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6302035
|
{'Case Presentation': "We present a case of cardiac paraganglioma with left coronary artery involvement. The patient was a 22-year-old woman with a clinical history of recurrent episodes of palpitations, diaphoresis, and headache. She was found to have high blood pressure and, because of her age, several studies were done looking for secondary hypertension. Results of transthoracic echocardiography and renal Doppler imaging were normal, and plasma and urine metanephrine levels were within normal limits. Ambulatory blood pressure monitoring found severe hypertension, and the patient started treatment with angiotensin receptor blockers. After 2 years, she continued to have the same symptoms, but at this time, a mesocardial systolic murmur with back irradiation was found on auscultation. New transthoracic echocardiography showed high velocities in the pulmonary artery and a mass with intermediate echogenicity located at the base of the heart in close relation to the aorta and the pulmonary artery, extending into the left atrioventricular groove ( Figure 1, Videos 1 and 2 ). Free metanephrines in plasma (noradrenaline 4,886.67 pg/mL) and urine (noradrenaline 1,426.9 μg/24 h) were high. Figure 1 Transthoracic echocardiography. Shown is a mass ( white arrow ) with intermediate echogenicity in relation to the great vessels. To obtain better characterization, cardiac magnetic resonance was performed and showed a middle mediastinal mass located in the left atrioventricular groove, extending posteriorly to the left atrial roof and almost surrounding the pulmonary artery anteriorly. The mass was closely associated with the aortic root, but the emergence and path of the left coronary artery and its branches were not adequately visualized ( Figure 2 ). Tissue characterization sequences showed a mass with a heterogeneous appearance on T2-weighted sequences and slightly hyperintense on T1-weighted and T2 with fat saturation sequences ( Figure 2 ). Important mass vascularization was demonstrated with the perfusion sequence, which showed rapid uptake of contrast shortly after its administration. We also found focal late gadolinium enhancement at the periphery of the mass, with no enhancement at its center, a finding that was considered highly suggestive of a paraganglioma ( Figure 3 ). Fluorine-18 fluorodeoxyglucose positron emission tomography was also performed, demonstrating a highly metabolic mass ( Figure 4 ). Figure 2 Cardiac magnetic resonance. (1) Coronal: isointense mass in relation to the left atrial roof. (2) Two-chamber longitudinal: isointense mass in the left atrioventricular groove. (3,4) Axial: mass in relation to the aortic root and the pulmonary artery. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 3 Cardiac magnetic resonance. Delayed enhancement. Focal deposit of gadolinium in the periphery of the mass. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 4 Positron emission tomography with 18F-fluorodeoxyglucose (10 mCi). Hypermetabolic mass in the middle mediastinum. Images reproduced with permission from Clínica del Country-Bogotá-Colombia. The case was discussed with the heart team and other departments, such as endocrinology and oncology, concluding that the patient had a clear indication for surgery, with α- and β-blockade, high sodium intake, and adequate hydration before the procedure. However, given that there were doubts regarding the emergence of the left coronary artery and its pathway, coronary angiotomography was performed. The mass was found to surround the left main coronary artery, the proximal segment of the left anterior descending coronary artery, the circumflex coronary artery, and two septal arteries, as well as the great cardiac vein ( Figure 5, Figure 6, Figure 7 ). At that time, and because of these findings, the intervention was considered to be a high-risk procedure. Isotopic radiation with 131 I meta-iodine benzyl guanidine (MIBG) was considered as a palliative intervention, but this approach was rejected because of the risk for hypertensive crises of unpredictable severity. Another approach that was considered was the use of octeotride, but this alternative was not accepted by the multidisciplinary group, because there was a risk for irradiation of adjacent tissue, including the coronary arteries, with an unknown benefit. The risk/benefit assessment of this therapy did not favor the patient either, and surgery was thought to be the only option. Coronary angiography was done looking for a main feeding artery that could be embolized preoperatively to reduce the tumor size and intraoperative blood loss. However, embolization could not be done, because there were many small feeding arteries coming from the left main coronary artery ( Figure 8 ). The patient underwent mass resection, requiring a complete transverse arteriotomy of the ascending aorta, pulmonary trunk, and section of the superior vena cava. The mass was exposed using caudal traction and was found to be closely associated with the posterior wall of the ascending aorta, the pulmonary artery, and the left atrial roof, without infiltration of these structures. Involvement of the left coronary artery trunk was documented, which required ligation and revascularization of the anterior descending coronary artery and the circumflex coronary artery. The mass could be completely resected ( Figure 9 ). Figure 5 Coronary computed tomography. Mass surrounding the left main coronary artery and the proximal segment of the anterior descending and the circumflex coronary arteries. Figure 6 Coronary computed tomography. Mass surrounding the pulmonary artery. Figure 7 Coronary computed tomography. Mass located in the left atrioventricular groove. Figure 8 Coronary arteriography. Mass irrigated by multiple small vessels arising from the anterior descending coronary artery. Figure 9 Surgical specimen. Resected mass. The patient progressed well and was able to be extubated and have her vasopressor support discontinued. Follow-up echocardiography showed that systolic function was moderately affected, with an ejection fraction of 35% and diffuse hypokinesia, which was more pronounced in the anterior descending coronary artery territory. Because of these findings, new coronary angiography was performed, ruling out saphenous bridge compromise ( Figure 10 ). Further follow-up echocardiography showed improvement in systolic function, with an ejection fraction of 55% and preserved contractility of all segments except the basal segment of the anterior septum, which continued to be akinetic. There was also moderate pericardial effusion without increased intrapericardial pressure ( Figure 11, Videos 3 and 4 ). Figure 10 Coronary angiography. Saphenous bridge patent to the anterior descending artery, without lesions. Figure 11 Transthoracic echocardiography. (1) Parasternal view in diastole: pericardial effusion. (2) Parasternal view in systole: akinesia of the basal anteroseptal segment. The pathology report of the surgical specimen described round and oval cells in an organoid pattern with fine chromatin nuclei and degenerative focal atypia ( Figure 12 ). These findings and the immunohistochemical studies were compatible with a paraganglioma. The genetic study showed a succinate dehydrogenase subunit B mutation. The patient progressed satisfactorily and was discharged. One month later, it was found that one of her father's cousins had a para-aortic pheochromocytoma, an incidental finding in the emergency department due to abdominal pain. Figure 12 Round and oval cells, arranged in an organoid pattern, with degenerative focal atypia."}
|
{'Case Presentation': "We present a case of cardiac paraganglioma with left coronary artery involvement. The patient was a 22-year-old woman with a clinical history of recurrent episodes of palpitations, diaphoresis, and headache. She was found to have high blood pressure and, because of her age, several studies were done looking for secondary hypertension. Results of transthoracic echocardiography and renal Doppler imaging were normal, and plasma and urine metanephrine levels were within normal limits. Ambulatory blood pressure monitoring found severe hypertension, and the patient started treatment with angiotensin receptor blockers. After 2 years, she continued to have the same symptoms, but at this time, a mesocardial systolic murmur with back irradiation was found on auscultation. New transthoracic echocardiography showed high velocities in the pulmonary artery and a mass with intermediate echogenicity located at the base of the heart in close relation to the aorta and the pulmonary artery, extending into the left atrioventricular groove ( Figure 1, Videos 1 and 2 ). Free metanephrines in plasma (noradrenaline 4,886.67 pg/mL) and urine (noradrenaline 1,426.9 μg/24 h) were high. Figure 1 Transthoracic echocardiography. Shown is a mass ( white arrow ) with intermediate echogenicity in relation to the great vessels. To obtain better characterization, cardiac magnetic resonance was performed and showed a middle mediastinal mass located in the left atrioventricular groove, extending posteriorly to the left atrial roof and almost surrounding the pulmonary artery anteriorly. The mass was closely associated with the aortic root, but the emergence and path of the left coronary artery and its branches were not adequately visualized ( Figure 2 ). Tissue characterization sequences showed a mass with a heterogeneous appearance on T2-weighted sequences and slightly hyperintense on T1-weighted and T2 with fat saturation sequences ( Figure 2 ). Important mass vascularization was demonstrated with the perfusion sequence, which showed rapid uptake of contrast shortly after its administration. We also found focal late gadolinium enhancement at the periphery of the mass, with no enhancement at its center, a finding that was considered highly suggestive of a paraganglioma ( Figure 3 ). Fluorine-18 fluorodeoxyglucose positron emission tomography was also performed, demonstrating a highly metabolic mass ( Figure 4 ). Figure 2 Cardiac magnetic resonance. (1) Coronal: isointense mass in relation to the left atrial roof. (2) Two-chamber longitudinal: isointense mass in the left atrioventricular groove. (3,4) Axial: mass in relation to the aortic root and the pulmonary artery. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 3 Cardiac magnetic resonance. Delayed enhancement. Focal deposit of gadolinium in the periphery of the mass. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 4 Positron emission tomography with 18F-fluorodeoxyglucose (10 mCi). Hypermetabolic mass in the middle mediastinum. Images reproduced with permission from Clínica del Country-Bogotá-Colombia. The case was discussed with the heart team and other departments, such as endocrinology and oncology, concluding that the patient had a clear indication for surgery, with α- and β-blockade, high sodium intake, and adequate hydration before the procedure. However, given that there were doubts regarding the emergence of the left coronary artery and its pathway, coronary angiotomography was performed. The mass was found to surround the left main coronary artery, the proximal segment of the left anterior descending coronary artery, the circumflex coronary artery, and two septal arteries, as well as the great cardiac vein ( Figure 5, Figure 6, Figure 7 ). At that time, and because of these findings, the intervention was considered to be a high-risk procedure. Isotopic radiation with 131 I meta-iodine benzyl guanidine (MIBG) was considered as a palliative intervention, but this approach was rejected because of the risk for hypertensive crises of unpredictable severity. Another approach that was considered was the use of octeotride, but this alternative was not accepted by the multidisciplinary group, because there was a risk for irradiation of adjacent tissue, including the coronary arteries, with an unknown benefit. The risk/benefit assessment of this therapy did not favor the patient either, and surgery was thought to be the only option. Coronary angiography was done looking for a main feeding artery that could be embolized preoperatively to reduce the tumor size and intraoperative blood loss. However, embolization could not be done, because there were many small feeding arteries coming from the left main coronary artery ( Figure 8 ). The patient underwent mass resection, requiring a complete transverse arteriotomy of the ascending aorta, pulmonary trunk, and section of the superior vena cava. The mass was exposed using caudal traction and was found to be closely associated with the posterior wall of the ascending aorta, the pulmonary artery, and the left atrial roof, without infiltration of these structures. Involvement of the left coronary artery trunk was documented, which required ligation and revascularization of the anterior descending coronary artery and the circumflex coronary artery. The mass could be completely resected ( Figure 9 ). Figure 5 Coronary computed tomography. Mass surrounding the left main coronary artery and the proximal segment of the anterior descending and the circumflex coronary arteries. Figure 6 Coronary computed tomography. Mass surrounding the pulmonary artery. Figure 7 Coronary computed tomography. Mass located in the left atrioventricular groove. Figure 8 Coronary arteriography. Mass irrigated by multiple small vessels arising from the anterior descending coronary artery. Figure 9 Surgical specimen. Resected mass. The patient progressed well and was able to be extubated and have her vasopressor support discontinued. Follow-up echocardiography showed that systolic function was moderately affected, with an ejection fraction of 35% and diffuse hypokinesia, which was more pronounced in the anterior descending coronary artery territory. Because of these findings, new coronary angiography was performed, ruling out saphenous bridge compromise ( Figure 10 ). Further follow-up echocardiography showed improvement in systolic function, with an ejection fraction of 55% and preserved contractility of all segments except the basal segment of the anterior septum, which continued to be akinetic. There was also moderate pericardial effusion without increased intrapericardial pressure ( Figure 11, Videos 3 and 4 ). Figure 10 Coronary angiography. Saphenous bridge patent to the anterior descending artery, without lesions. Figure 11 Transthoracic echocardiography. (1) Parasternal view in diastole: pericardial effusion. (2) Parasternal view in systole: akinesia of the basal anteroseptal segment. The pathology report of the surgical specimen described round and oval cells in an organoid pattern with fine chromatin nuclei and degenerative focal atypia ( Figure 12 ). These findings and the immunohistochemical studies were compatible with a paraganglioma. The genetic study showed a succinate dehydrogenase subunit B mutation. The patient progressed satisfactorily and was discharged. One month later, it was found that one of her father's cousins had a para-aortic pheochromocytoma, an incidental finding in the emergency department due to abdominal pain. Figure 12 Round and oval cells, arranged in an organoid pattern, with degenerative focal atypia."}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"Results of transthoracic echocardiography and renal Doppler imaging were normal, and plasma and urine metanephrine levels were within normal limits",
"New transthoracic echocardiography showed high velocities in the pulmonary artery and a mass with intermediate echogenicity located at the base of the heart in close relation to the aorta and the pulmonary artery, extending into the left atrioventricular groove",
"Free metanephrines in plasma ( noradrenaline 4,886.67 pg / mL ) and urine ( noradrenaline 1,426.9 μg/24 h ) were high.",
"Transthoracic echocardiography. Shown is a mass ( white arrow ) with intermediate echogenicity in relation to the great vessels.",
"cardiac magnetic resonance was performed and showed a middle mediastinal mass located in the left atrioventricular groove, extending posteriorly to the left atrial roof and almost surrounding the pulmonary artery anteriorly. The mass was closely associated with the aortic root, but the emergence and path of the left coronary artery and its branches were not adequately visualized ( Figure 2 ). Tissue characterization sequences showed a mass with a heterogeneous appearance on T2 - weighted sequences and slightly hyperintense on T1 - weighted and T2 with fat saturation sequences ( Figure 2 ). Important mass vascularization was demonstrated with the perfusion sequence, which showed rapid uptake of contrast shortly after its administration. We also found focal late gadolinium enhancement at the periphery of the mass, with no enhancement at its center, a finding that was considered highly suggestive of a paraganglioma",
"Fluorine-18 fluorodeoxyglucose positron emission tomography was also performed, demonstrating a highly metabolic mass",
"Cardiac magnetic resonance. ( 1 ) Coronal : isointense mass in relation to the left atrial roof. ( 2 ) Two - chamber longitudinal : isointense mass in the left atrioventricular groove. ( 3,4 ) Axial : mass in relation to the aortic root and the pulmonary artery.",
"Cardiac magnetic resonance. Delayed enhancement. Focal deposit of gadolinium in the periphery of the mass.",
"Positron emission tomography with 18F - fluorodeoxyglucose ( 10 mCi ). Hypermetabolic mass in the middle mediastinum",
"coronary angiotomography was performed. The mass was found to surround the left main coronary artery, the proximal segment of the left anterior descending coronary artery, the circumflex coronary artery, and two septal arteries, as well as the great cardiac vein",
"Figure 5 Coronary computed tomography. Mass surrounding the left main coronary artery and the proximal segment of the anterior descending and the circumflex coronary arteries. Figure 6 Coronary computed tomography. Mass surrounding the pulmonary artery. Figure 7 Coronary computed tomography. Mass located in the left atrioventricular groove. Figure 8 Coronary arteriography. Mass irrigated by multiple small vessels arising from the anterior descending coronary artery.",
"Follow - up echocardiography showed that systolic function was moderately affected, with an ejection fraction of 35 % and diffuse hypokinesia, which was more pronounced in the anterior descending coronary artery territory",
"new coronary angiography was performed, ruling out saphenous bridge compromise",
"Further follow - up echocardiography showed improvement in systolic function, with an ejection fraction of 55 % and preserved contractility of all segments except the basal segment of the anterior septum, which continued to be akinetic. There was also moderate pericardial effusion without increased intrapericardial pressure",
"Figure 10 Coronary angiography. Saphenous bridge patent to the anterior descending artery, without lesions. Figure 11 Transthoracic echocardiography. ( 1 ) Parasternal view in diastole : pericardial effusion. ( 2 ) Parasternal view in systole : akinesia of the basal anteroseptal segment",
"pathology report of the surgical specimen described round and oval cells in an organoid pattern with fine chromatin nuclei and degenerative focal atypia",
"Round and oval cells, arranged in an organoid pattern, with degenerative focal atypia."
] |
6302035
|
{'Case Presentation': "We present a case of cardiac paraganglioma with left coronary artery involvement. The patient was a 22-year-old woman with a clinical history of recurrent episodes of palpitations, diaphoresis, and headache. She was found to have high blood pressure and, because of her age, several studies were done looking for secondary hypertension. Results of transthoracic echocardiography and renal Doppler imaging were normal, and plasma and urine metanephrine levels were within normal limits. Ambulatory blood pressure monitoring found severe hypertension, and the patient started treatment with angiotensin receptor blockers. After 2 years, she continued to have the same symptoms, but at this time, a mesocardial systolic murmur with back irradiation was found on auscultation. New transthoracic echocardiography showed high velocities in the pulmonary artery and a mass with intermediate echogenicity located at the base of the heart in close relation to the aorta and the pulmonary artery, extending into the left atrioventricular groove ( Figure 1, Videos 1 and 2 ). Free metanephrines in plasma (noradrenaline 4,886.67 pg/mL) and urine (noradrenaline 1,426.9 μg/24 h) were high. Figure 1 Transthoracic echocardiography. Shown is a mass ( white arrow ) with intermediate echogenicity in relation to the great vessels. To obtain better characterization, cardiac magnetic resonance was performed and showed a middle mediastinal mass located in the left atrioventricular groove, extending posteriorly to the left atrial roof and almost surrounding the pulmonary artery anteriorly. The mass was closely associated with the aortic root, but the emergence and path of the left coronary artery and its branches were not adequately visualized ( Figure 2 ). Tissue characterization sequences showed a mass with a heterogeneous appearance on T2-weighted sequences and slightly hyperintense on T1-weighted and T2 with fat saturation sequences ( Figure 2 ). Important mass vascularization was demonstrated with the perfusion sequence, which showed rapid uptake of contrast shortly after its administration. We also found focal late gadolinium enhancement at the periphery of the mass, with no enhancement at its center, a finding that was considered highly suggestive of a paraganglioma ( Figure 3 ). Fluorine-18 fluorodeoxyglucose positron emission tomography was also performed, demonstrating a highly metabolic mass ( Figure 4 ). Figure 2 Cardiac magnetic resonance. (1) Coronal: isointense mass in relation to the left atrial roof. (2) Two-chamber longitudinal: isointense mass in the left atrioventricular groove. (3,4) Axial: mass in relation to the aortic root and the pulmonary artery. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 3 Cardiac magnetic resonance. Delayed enhancement. Focal deposit of gadolinium in the periphery of the mass. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 4 Positron emission tomography with 18F-fluorodeoxyglucose (10 mCi). Hypermetabolic mass in the middle mediastinum. Images reproduced with permission from Clínica del Country-Bogotá-Colombia. The case was discussed with the heart team and other departments, such as endocrinology and oncology, concluding that the patient had a clear indication for surgery, with α- and β-blockade, high sodium intake, and adequate hydration before the procedure. However, given that there were doubts regarding the emergence of the left coronary artery and its pathway, coronary angiotomography was performed. The mass was found to surround the left main coronary artery, the proximal segment of the left anterior descending coronary artery, the circumflex coronary artery, and two septal arteries, as well as the great cardiac vein ( Figure 5, Figure 6, Figure 7 ). At that time, and because of these findings, the intervention was considered to be a high-risk procedure. Isotopic radiation with 131 I meta-iodine benzyl guanidine (MIBG) was considered as a palliative intervention, but this approach was rejected because of the risk for hypertensive crises of unpredictable severity. Another approach that was considered was the use of octeotride, but this alternative was not accepted by the multidisciplinary group, because there was a risk for irradiation of adjacent tissue, including the coronary arteries, with an unknown benefit. The risk/benefit assessment of this therapy did not favor the patient either, and surgery was thought to be the only option. Coronary angiography was done looking for a main feeding artery that could be embolized preoperatively to reduce the tumor size and intraoperative blood loss. However, embolization could not be done, because there were many small feeding arteries coming from the left main coronary artery ( Figure 8 ). The patient underwent mass resection, requiring a complete transverse arteriotomy of the ascending aorta, pulmonary trunk, and section of the superior vena cava. The mass was exposed using caudal traction and was found to be closely associated with the posterior wall of the ascending aorta, the pulmonary artery, and the left atrial roof, without infiltration of these structures. Involvement of the left coronary artery trunk was documented, which required ligation and revascularization of the anterior descending coronary artery and the circumflex coronary artery. The mass could be completely resected ( Figure 9 ). Figure 5 Coronary computed tomography. Mass surrounding the left main coronary artery and the proximal segment of the anterior descending and the circumflex coronary arteries. Figure 6 Coronary computed tomography. Mass surrounding the pulmonary artery. Figure 7 Coronary computed tomography. Mass located in the left atrioventricular groove. Figure 8 Coronary arteriography. Mass irrigated by multiple small vessels arising from the anterior descending coronary artery. Figure 9 Surgical specimen. Resected mass. The patient progressed well and was able to be extubated and have her vasopressor support discontinued. Follow-up echocardiography showed that systolic function was moderately affected, with an ejection fraction of 35% and diffuse hypokinesia, which was more pronounced in the anterior descending coronary artery territory. Because of these findings, new coronary angiography was performed, ruling out saphenous bridge compromise ( Figure 10 ). Further follow-up echocardiography showed improvement in systolic function, with an ejection fraction of 55% and preserved contractility of all segments except the basal segment of the anterior septum, which continued to be akinetic. There was also moderate pericardial effusion without increased intrapericardial pressure ( Figure 11, Videos 3 and 4 ). Figure 10 Coronary angiography. Saphenous bridge patent to the anterior descending artery, without lesions. Figure 11 Transthoracic echocardiography. (1) Parasternal view in diastole: pericardial effusion. (2) Parasternal view in systole: akinesia of the basal anteroseptal segment. The pathology report of the surgical specimen described round and oval cells in an organoid pattern with fine chromatin nuclei and degenerative focal atypia ( Figure 12 ). These findings and the immunohistochemical studies were compatible with a paraganglioma. The genetic study showed a succinate dehydrogenase subunit B mutation. The patient progressed satisfactorily and was discharged. One month later, it was found that one of her father's cousins had a para-aortic pheochromocytoma, an incidental finding in the emergency department due to abdominal pain. Figure 12 Round and oval cells, arranged in an organoid pattern, with degenerative focal atypia."}
|
{'Case Presentation': "We present a case of cardiac paraganglioma with left coronary artery involvement. The patient was a 22-year-old woman with a clinical history of recurrent episodes of palpitations, diaphoresis, and headache. She was found to have high blood pressure and, because of her age, several studies were done looking for secondary hypertension. Results of transthoracic echocardiography and renal Doppler imaging were normal, and plasma and urine metanephrine levels were within normal limits. Ambulatory blood pressure monitoring found severe hypertension, and the patient started treatment with angiotensin receptor blockers. After 2 years, she continued to have the same symptoms, but at this time, a mesocardial systolic murmur with back irradiation was found on auscultation. New transthoracic echocardiography showed high velocities in the pulmonary artery and a mass with intermediate echogenicity located at the base of the heart in close relation to the aorta and the pulmonary artery, extending into the left atrioventricular groove ( Figure 1, Videos 1 and 2 ). Free metanephrines in plasma (noradrenaline 4,886.67 pg/mL) and urine (noradrenaline 1,426.9 μg/24 h) were high. Figure 1 Transthoracic echocardiography. Shown is a mass ( white arrow ) with intermediate echogenicity in relation to the great vessels. To obtain better characterization, cardiac magnetic resonance was performed and showed a middle mediastinal mass located in the left atrioventricular groove, extending posteriorly to the left atrial roof and almost surrounding the pulmonary artery anteriorly. The mass was closely associated with the aortic root, but the emergence and path of the left coronary artery and its branches were not adequately visualized ( Figure 2 ). Tissue characterization sequences showed a mass with a heterogeneous appearance on T2-weighted sequences and slightly hyperintense on T1-weighted and T2 with fat saturation sequences ( Figure 2 ). Important mass vascularization was demonstrated with the perfusion sequence, which showed rapid uptake of contrast shortly after its administration. We also found focal late gadolinium enhancement at the periphery of the mass, with no enhancement at its center, a finding that was considered highly suggestive of a paraganglioma ( Figure 3 ). Fluorine-18 fluorodeoxyglucose positron emission tomography was also performed, demonstrating a highly metabolic mass ( Figure 4 ). Figure 2 Cardiac magnetic resonance. (1) Coronal: isointense mass in relation to the left atrial roof. (2) Two-chamber longitudinal: isointense mass in the left atrioventricular groove. (3,4) Axial: mass in relation to the aortic root and the pulmonary artery. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 3 Cardiac magnetic resonance. Delayed enhancement. Focal deposit of gadolinium in the periphery of the mass. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 4 Positron emission tomography with 18F-fluorodeoxyglucose (10 mCi). Hypermetabolic mass in the middle mediastinum. Images reproduced with permission from Clínica del Country-Bogotá-Colombia. The case was discussed with the heart team and other departments, such as endocrinology and oncology, concluding that the patient had a clear indication for surgery, with α- and β-blockade, high sodium intake, and adequate hydration before the procedure. However, given that there were doubts regarding the emergence of the left coronary artery and its pathway, coronary angiotomography was performed. The mass was found to surround the left main coronary artery, the proximal segment of the left anterior descending coronary artery, the circumflex coronary artery, and two septal arteries, as well as the great cardiac vein ( Figure 5, Figure 6, Figure 7 ). At that time, and because of these findings, the intervention was considered to be a high-risk procedure. Isotopic radiation with 131 I meta-iodine benzyl guanidine (MIBG) was considered as a palliative intervention, but this approach was rejected because of the risk for hypertensive crises of unpredictable severity. Another approach that was considered was the use of octeotride, but this alternative was not accepted by the multidisciplinary group, because there was a risk for irradiation of adjacent tissue, including the coronary arteries, with an unknown benefit. The risk/benefit assessment of this therapy did not favor the patient either, and surgery was thought to be the only option. Coronary angiography was done looking for a main feeding artery that could be embolized preoperatively to reduce the tumor size and intraoperative blood loss. However, embolization could not be done, because there were many small feeding arteries coming from the left main coronary artery ( Figure 8 ). The patient underwent mass resection, requiring a complete transverse arteriotomy of the ascending aorta, pulmonary trunk, and section of the superior vena cava. The mass was exposed using caudal traction and was found to be closely associated with the posterior wall of the ascending aorta, the pulmonary artery, and the left atrial roof, without infiltration of these structures. Involvement of the left coronary artery trunk was documented, which required ligation and revascularization of the anterior descending coronary artery and the circumflex coronary artery. The mass could be completely resected ( Figure 9 ). Figure 5 Coronary computed tomography. Mass surrounding the left main coronary artery and the proximal segment of the anterior descending and the circumflex coronary arteries. Figure 6 Coronary computed tomography. Mass surrounding the pulmonary artery. Figure 7 Coronary computed tomography. Mass located in the left atrioventricular groove. Figure 8 Coronary arteriography. Mass irrigated by multiple small vessels arising from the anterior descending coronary artery. Figure 9 Surgical specimen. Resected mass. The patient progressed well and was able to be extubated and have her vasopressor support discontinued. Follow-up echocardiography showed that systolic function was moderately affected, with an ejection fraction of 35% and diffuse hypokinesia, which was more pronounced in the anterior descending coronary artery territory. Because of these findings, new coronary angiography was performed, ruling out saphenous bridge compromise ( Figure 10 ). Further follow-up echocardiography showed improvement in systolic function, with an ejection fraction of 55% and preserved contractility of all segments except the basal segment of the anterior septum, which continued to be akinetic. There was also moderate pericardial effusion without increased intrapericardial pressure ( Figure 11, Videos 3 and 4 ). Figure 10 Coronary angiography. Saphenous bridge patent to the anterior descending artery, without lesions. Figure 11 Transthoracic echocardiography. (1) Parasternal view in diastole: pericardial effusion. (2) Parasternal view in systole: akinesia of the basal anteroseptal segment. The pathology report of the surgical specimen described round and oval cells in an organoid pattern with fine chromatin nuclei and degenerative focal atypia ( Figure 12 ). These findings and the immunohistochemical studies were compatible with a paraganglioma. The genetic study showed a succinate dehydrogenase subunit B mutation. The patient progressed satisfactorily and was discharged. One month later, it was found that one of her father's cousins had a para-aortic pheochromocytoma, an incidental finding in the emergency department due to abdominal pain. Figure 12 Round and oval cells, arranged in an organoid pattern, with degenerative focal atypia."}
|
Cardiovascular-System
|
CVS
|
[
"cardiac paraganglioma with left coronary artery involvement.",
"recurrent episodes of palpitations, diaphoresis, and headache. She was found to have high blood pressure and, because of her age, several studies were done looking for secondary hypertension",
"Ambulatory blood pressure monitoring found severe hypertension, and the patient started treatment with angiotensin receptor blockers. After 2 years, she continued to have the same symptoms, but at this time, a mesocardial systolic murmur with back irradiation was found on auscultation",
"follow - up echocardiography showed improvement in systolic function, with an ejection fraction of 55 % and preserved contractility of all segments except the basal segment of the anterior septum, which continued to be akinetic. There was also moderate pericardial effusion without increased intrapericardial pressure"
] |
6302035
|
{'Case Presentation': "We present a case of cardiac paraganglioma with left coronary artery involvement. The patient was a 22-year-old woman with a clinical history of recurrent episodes of palpitations, diaphoresis, and headache. She was found to have high blood pressure and, because of her age, several studies were done looking for secondary hypertension. Results of transthoracic echocardiography and renal Doppler imaging were normal, and plasma and urine metanephrine levels were within normal limits. Ambulatory blood pressure monitoring found severe hypertension, and the patient started treatment with angiotensin receptor blockers. After 2 years, she continued to have the same symptoms, but at this time, a mesocardial systolic murmur with back irradiation was found on auscultation. New transthoracic echocardiography showed high velocities in the pulmonary artery and a mass with intermediate echogenicity located at the base of the heart in close relation to the aorta and the pulmonary artery, extending into the left atrioventricular groove ( Figure 1, Videos 1 and 2 ). Free metanephrines in plasma (noradrenaline 4,886.67 pg/mL) and urine (noradrenaline 1,426.9 μg/24 h) were high. Figure 1 Transthoracic echocardiography. Shown is a mass ( white arrow ) with intermediate echogenicity in relation to the great vessels. To obtain better characterization, cardiac magnetic resonance was performed and showed a middle mediastinal mass located in the left atrioventricular groove, extending posteriorly to the left atrial roof and almost surrounding the pulmonary artery anteriorly. The mass was closely associated with the aortic root, but the emergence and path of the left coronary artery and its branches were not adequately visualized ( Figure 2 ). Tissue characterization sequences showed a mass with a heterogeneous appearance on T2-weighted sequences and slightly hyperintense on T1-weighted and T2 with fat saturation sequences ( Figure 2 ). Important mass vascularization was demonstrated with the perfusion sequence, which showed rapid uptake of contrast shortly after its administration. We also found focal late gadolinium enhancement at the periphery of the mass, with no enhancement at its center, a finding that was considered highly suggestive of a paraganglioma ( Figure 3 ). Fluorine-18 fluorodeoxyglucose positron emission tomography was also performed, demonstrating a highly metabolic mass ( Figure 4 ). Figure 2 Cardiac magnetic resonance. (1) Coronal: isointense mass in relation to the left atrial roof. (2) Two-chamber longitudinal: isointense mass in the left atrioventricular groove. (3,4) Axial: mass in relation to the aortic root and the pulmonary artery. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 3 Cardiac magnetic resonance. Delayed enhancement. Focal deposit of gadolinium in the periphery of the mass. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 4 Positron emission tomography with 18F-fluorodeoxyglucose (10 mCi). Hypermetabolic mass in the middle mediastinum. Images reproduced with permission from Clínica del Country-Bogotá-Colombia. The case was discussed with the heart team and other departments, such as endocrinology and oncology, concluding that the patient had a clear indication for surgery, with α- and β-blockade, high sodium intake, and adequate hydration before the procedure. However, given that there were doubts regarding the emergence of the left coronary artery and its pathway, coronary angiotomography was performed. The mass was found to surround the left main coronary artery, the proximal segment of the left anterior descending coronary artery, the circumflex coronary artery, and two septal arteries, as well as the great cardiac vein ( Figure 5, Figure 6, Figure 7 ). At that time, and because of these findings, the intervention was considered to be a high-risk procedure. Isotopic radiation with 131 I meta-iodine benzyl guanidine (MIBG) was considered as a palliative intervention, but this approach was rejected because of the risk for hypertensive crises of unpredictable severity. Another approach that was considered was the use of octeotride, but this alternative was not accepted by the multidisciplinary group, because there was a risk for irradiation of adjacent tissue, including the coronary arteries, with an unknown benefit. The risk/benefit assessment of this therapy did not favor the patient either, and surgery was thought to be the only option. Coronary angiography was done looking for a main feeding artery that could be embolized preoperatively to reduce the tumor size and intraoperative blood loss. However, embolization could not be done, because there were many small feeding arteries coming from the left main coronary artery ( Figure 8 ). The patient underwent mass resection, requiring a complete transverse arteriotomy of the ascending aorta, pulmonary trunk, and section of the superior vena cava. The mass was exposed using caudal traction and was found to be closely associated with the posterior wall of the ascending aorta, the pulmonary artery, and the left atrial roof, without infiltration of these structures. Involvement of the left coronary artery trunk was documented, which required ligation and revascularization of the anterior descending coronary artery and the circumflex coronary artery. The mass could be completely resected ( Figure 9 ). Figure 5 Coronary computed tomography. Mass surrounding the left main coronary artery and the proximal segment of the anterior descending and the circumflex coronary arteries. Figure 6 Coronary computed tomography. Mass surrounding the pulmonary artery. Figure 7 Coronary computed tomography. Mass located in the left atrioventricular groove. Figure 8 Coronary arteriography. Mass irrigated by multiple small vessels arising from the anterior descending coronary artery. Figure 9 Surgical specimen. Resected mass. The patient progressed well and was able to be extubated and have her vasopressor support discontinued. Follow-up echocardiography showed that systolic function was moderately affected, with an ejection fraction of 35% and diffuse hypokinesia, which was more pronounced in the anterior descending coronary artery territory. Because of these findings, new coronary angiography was performed, ruling out saphenous bridge compromise ( Figure 10 ). Further follow-up echocardiography showed improvement in systolic function, with an ejection fraction of 55% and preserved contractility of all segments except the basal segment of the anterior septum, which continued to be akinetic. There was also moderate pericardial effusion without increased intrapericardial pressure ( Figure 11, Videos 3 and 4 ). Figure 10 Coronary angiography. Saphenous bridge patent to the anterior descending artery, without lesions. Figure 11 Transthoracic echocardiography. (1) Parasternal view in diastole: pericardial effusion. (2) Parasternal view in systole: akinesia of the basal anteroseptal segment. The pathology report of the surgical specimen described round and oval cells in an organoid pattern with fine chromatin nuclei and degenerative focal atypia ( Figure 12 ). These findings and the immunohistochemical studies were compatible with a paraganglioma. The genetic study showed a succinate dehydrogenase subunit B mutation. The patient progressed satisfactorily and was discharged. One month later, it was found that one of her father's cousins had a para-aortic pheochromocytoma, an incidental finding in the emergency department due to abdominal pain. Figure 12 Round and oval cells, arranged in an organoid pattern, with degenerative focal atypia."}
|
{'Case Presentation': "We present a case of cardiac paraganglioma with left coronary artery involvement. The patient was a 22-year-old woman with a clinical history of recurrent episodes of palpitations, diaphoresis, and headache. She was found to have high blood pressure and, because of her age, several studies were done looking for secondary hypertension. Results of transthoracic echocardiography and renal Doppler imaging were normal, and plasma and urine metanephrine levels were within normal limits. Ambulatory blood pressure monitoring found severe hypertension, and the patient started treatment with angiotensin receptor blockers. After 2 years, she continued to have the same symptoms, but at this time, a mesocardial systolic murmur with back irradiation was found on auscultation. New transthoracic echocardiography showed high velocities in the pulmonary artery and a mass with intermediate echogenicity located at the base of the heart in close relation to the aorta and the pulmonary artery, extending into the left atrioventricular groove ( Figure 1, Videos 1 and 2 ). Free metanephrines in plasma (noradrenaline 4,886.67 pg/mL) and urine (noradrenaline 1,426.9 μg/24 h) were high. Figure 1 Transthoracic echocardiography. Shown is a mass ( white arrow ) with intermediate echogenicity in relation to the great vessels. To obtain better characterization, cardiac magnetic resonance was performed and showed a middle mediastinal mass located in the left atrioventricular groove, extending posteriorly to the left atrial roof and almost surrounding the pulmonary artery anteriorly. The mass was closely associated with the aortic root, but the emergence and path of the left coronary artery and its branches were not adequately visualized ( Figure 2 ). Tissue characterization sequences showed a mass with a heterogeneous appearance on T2-weighted sequences and slightly hyperintense on T1-weighted and T2 with fat saturation sequences ( Figure 2 ). Important mass vascularization was demonstrated with the perfusion sequence, which showed rapid uptake of contrast shortly after its administration. We also found focal late gadolinium enhancement at the periphery of the mass, with no enhancement at its center, a finding that was considered highly suggestive of a paraganglioma ( Figure 3 ). Fluorine-18 fluorodeoxyglucose positron emission tomography was also performed, demonstrating a highly metabolic mass ( Figure 4 ). Figure 2 Cardiac magnetic resonance. (1) Coronal: isointense mass in relation to the left atrial roof. (2) Two-chamber longitudinal: isointense mass in the left atrioventricular groove. (3,4) Axial: mass in relation to the aortic root and the pulmonary artery. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 3 Cardiac magnetic resonance. Delayed enhancement. Focal deposit of gadolinium in the periphery of the mass. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 4 Positron emission tomography with 18F-fluorodeoxyglucose (10 mCi). Hypermetabolic mass in the middle mediastinum. Images reproduced with permission from Clínica del Country-Bogotá-Colombia. The case was discussed with the heart team and other departments, such as endocrinology and oncology, concluding that the patient had a clear indication for surgery, with α- and β-blockade, high sodium intake, and adequate hydration before the procedure. However, given that there were doubts regarding the emergence of the left coronary artery and its pathway, coronary angiotomography was performed. The mass was found to surround the left main coronary artery, the proximal segment of the left anterior descending coronary artery, the circumflex coronary artery, and two septal arteries, as well as the great cardiac vein ( Figure 5, Figure 6, Figure 7 ). At that time, and because of these findings, the intervention was considered to be a high-risk procedure. Isotopic radiation with 131 I meta-iodine benzyl guanidine (MIBG) was considered as a palliative intervention, but this approach was rejected because of the risk for hypertensive crises of unpredictable severity. Another approach that was considered was the use of octeotride, but this alternative was not accepted by the multidisciplinary group, because there was a risk for irradiation of adjacent tissue, including the coronary arteries, with an unknown benefit. The risk/benefit assessment of this therapy did not favor the patient either, and surgery was thought to be the only option. Coronary angiography was done looking for a main feeding artery that could be embolized preoperatively to reduce the tumor size and intraoperative blood loss. However, embolization could not be done, because there were many small feeding arteries coming from the left main coronary artery ( Figure 8 ). The patient underwent mass resection, requiring a complete transverse arteriotomy of the ascending aorta, pulmonary trunk, and section of the superior vena cava. The mass was exposed using caudal traction and was found to be closely associated with the posterior wall of the ascending aorta, the pulmonary artery, and the left atrial roof, without infiltration of these structures. Involvement of the left coronary artery trunk was documented, which required ligation and revascularization of the anterior descending coronary artery and the circumflex coronary artery. The mass could be completely resected ( Figure 9 ). Figure 5 Coronary computed tomography. Mass surrounding the left main coronary artery and the proximal segment of the anterior descending and the circumflex coronary arteries. Figure 6 Coronary computed tomography. Mass surrounding the pulmonary artery. Figure 7 Coronary computed tomography. Mass located in the left atrioventricular groove. Figure 8 Coronary arteriography. Mass irrigated by multiple small vessels arising from the anterior descending coronary artery. Figure 9 Surgical specimen. Resected mass. The patient progressed well and was able to be extubated and have her vasopressor support discontinued. Follow-up echocardiography showed that systolic function was moderately affected, with an ejection fraction of 35% and diffuse hypokinesia, which was more pronounced in the anterior descending coronary artery territory. Because of these findings, new coronary angiography was performed, ruling out saphenous bridge compromise ( Figure 10 ). Further follow-up echocardiography showed improvement in systolic function, with an ejection fraction of 55% and preserved contractility of all segments except the basal segment of the anterior septum, which continued to be akinetic. There was also moderate pericardial effusion without increased intrapericardial pressure ( Figure 11, Videos 3 and 4 ). Figure 10 Coronary angiography. Saphenous bridge patent to the anterior descending artery, without lesions. Figure 11 Transthoracic echocardiography. (1) Parasternal view in diastole: pericardial effusion. (2) Parasternal view in systole: akinesia of the basal anteroseptal segment. The pathology report of the surgical specimen described round and oval cells in an organoid pattern with fine chromatin nuclei and degenerative focal atypia ( Figure 12 ). These findings and the immunohistochemical studies were compatible with a paraganglioma. The genetic study showed a succinate dehydrogenase subunit B mutation. The patient progressed satisfactorily and was discharged. One month later, it was found that one of her father's cousins had a para-aortic pheochromocytoma, an incidental finding in the emergency department due to abdominal pain. Figure 12 Round and oval cells, arranged in an organoid pattern, with degenerative focal atypia."}
|
Endocrinology
|
ENDO
|
[] |
6302035
|
{'Case Presentation': "We present a case of cardiac paraganglioma with left coronary artery involvement. The patient was a 22-year-old woman with a clinical history of recurrent episodes of palpitations, diaphoresis, and headache. She was found to have high blood pressure and, because of her age, several studies were done looking for secondary hypertension. Results of transthoracic echocardiography and renal Doppler imaging were normal, and plasma and urine metanephrine levels were within normal limits. Ambulatory blood pressure monitoring found severe hypertension, and the patient started treatment with angiotensin receptor blockers. After 2 years, she continued to have the same symptoms, but at this time, a mesocardial systolic murmur with back irradiation was found on auscultation. New transthoracic echocardiography showed high velocities in the pulmonary artery and a mass with intermediate echogenicity located at the base of the heart in close relation to the aorta and the pulmonary artery, extending into the left atrioventricular groove ( Figure 1, Videos 1 and 2 ). Free metanephrines in plasma (noradrenaline 4,886.67 pg/mL) and urine (noradrenaline 1,426.9 μg/24 h) were high. Figure 1 Transthoracic echocardiography. Shown is a mass ( white arrow ) with intermediate echogenicity in relation to the great vessels. To obtain better characterization, cardiac magnetic resonance was performed and showed a middle mediastinal mass located in the left atrioventricular groove, extending posteriorly to the left atrial roof and almost surrounding the pulmonary artery anteriorly. The mass was closely associated with the aortic root, but the emergence and path of the left coronary artery and its branches were not adequately visualized ( Figure 2 ). Tissue characterization sequences showed a mass with a heterogeneous appearance on T2-weighted sequences and slightly hyperintense on T1-weighted and T2 with fat saturation sequences ( Figure 2 ). Important mass vascularization was demonstrated with the perfusion sequence, which showed rapid uptake of contrast shortly after its administration. We also found focal late gadolinium enhancement at the periphery of the mass, with no enhancement at its center, a finding that was considered highly suggestive of a paraganglioma ( Figure 3 ). Fluorine-18 fluorodeoxyglucose positron emission tomography was also performed, demonstrating a highly metabolic mass ( Figure 4 ). Figure 2 Cardiac magnetic resonance. (1) Coronal: isointense mass in relation to the left atrial roof. (2) Two-chamber longitudinal: isointense mass in the left atrioventricular groove. (3,4) Axial: mass in relation to the aortic root and the pulmonary artery. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 3 Cardiac magnetic resonance. Delayed enhancement. Focal deposit of gadolinium in the periphery of the mass. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 4 Positron emission tomography with 18F-fluorodeoxyglucose (10 mCi). Hypermetabolic mass in the middle mediastinum. Images reproduced with permission from Clínica del Country-Bogotá-Colombia. The case was discussed with the heart team and other departments, such as endocrinology and oncology, concluding that the patient had a clear indication for surgery, with α- and β-blockade, high sodium intake, and adequate hydration before the procedure. However, given that there were doubts regarding the emergence of the left coronary artery and its pathway, coronary angiotomography was performed. The mass was found to surround the left main coronary artery, the proximal segment of the left anterior descending coronary artery, the circumflex coronary artery, and two septal arteries, as well as the great cardiac vein ( Figure 5, Figure 6, Figure 7 ). At that time, and because of these findings, the intervention was considered to be a high-risk procedure. Isotopic radiation with 131 I meta-iodine benzyl guanidine (MIBG) was considered as a palliative intervention, but this approach was rejected because of the risk for hypertensive crises of unpredictable severity. Another approach that was considered was the use of octeotride, but this alternative was not accepted by the multidisciplinary group, because there was a risk for irradiation of adjacent tissue, including the coronary arteries, with an unknown benefit. The risk/benefit assessment of this therapy did not favor the patient either, and surgery was thought to be the only option. Coronary angiography was done looking for a main feeding artery that could be embolized preoperatively to reduce the tumor size and intraoperative blood loss. However, embolization could not be done, because there were many small feeding arteries coming from the left main coronary artery ( Figure 8 ). The patient underwent mass resection, requiring a complete transverse arteriotomy of the ascending aorta, pulmonary trunk, and section of the superior vena cava. The mass was exposed using caudal traction and was found to be closely associated with the posterior wall of the ascending aorta, the pulmonary artery, and the left atrial roof, without infiltration of these structures. Involvement of the left coronary artery trunk was documented, which required ligation and revascularization of the anterior descending coronary artery and the circumflex coronary artery. The mass could be completely resected ( Figure 9 ). Figure 5 Coronary computed tomography. Mass surrounding the left main coronary artery and the proximal segment of the anterior descending and the circumflex coronary arteries. Figure 6 Coronary computed tomography. Mass surrounding the pulmonary artery. Figure 7 Coronary computed tomography. Mass located in the left atrioventricular groove. Figure 8 Coronary arteriography. Mass irrigated by multiple small vessels arising from the anterior descending coronary artery. Figure 9 Surgical specimen. Resected mass. The patient progressed well and was able to be extubated and have her vasopressor support discontinued. Follow-up echocardiography showed that systolic function was moderately affected, with an ejection fraction of 35% and diffuse hypokinesia, which was more pronounced in the anterior descending coronary artery territory. Because of these findings, new coronary angiography was performed, ruling out saphenous bridge compromise ( Figure 10 ). Further follow-up echocardiography showed improvement in systolic function, with an ejection fraction of 55% and preserved contractility of all segments except the basal segment of the anterior septum, which continued to be akinetic. There was also moderate pericardial effusion without increased intrapericardial pressure ( Figure 11, Videos 3 and 4 ). Figure 10 Coronary angiography. Saphenous bridge patent to the anterior descending artery, without lesions. Figure 11 Transthoracic echocardiography. (1) Parasternal view in diastole: pericardial effusion. (2) Parasternal view in systole: akinesia of the basal anteroseptal segment. The pathology report of the surgical specimen described round and oval cells in an organoid pattern with fine chromatin nuclei and degenerative focal atypia ( Figure 12 ). These findings and the immunohistochemical studies were compatible with a paraganglioma. The genetic study showed a succinate dehydrogenase subunit B mutation. The patient progressed satisfactorily and was discharged. One month later, it was found that one of her father's cousins had a para-aortic pheochromocytoma, an incidental finding in the emergency department due to abdominal pain. Figure 12 Round and oval cells, arranged in an organoid pattern, with degenerative focal atypia."}
|
{'Case Presentation': "We present a case of cardiac paraganglioma with left coronary artery involvement. The patient was a 22-year-old woman with a clinical history of recurrent episodes of palpitations, diaphoresis, and headache. She was found to have high blood pressure and, because of her age, several studies were done looking for secondary hypertension. Results of transthoracic echocardiography and renal Doppler imaging were normal, and plasma and urine metanephrine levels were within normal limits. Ambulatory blood pressure monitoring found severe hypertension, and the patient started treatment with angiotensin receptor blockers. After 2 years, she continued to have the same symptoms, but at this time, a mesocardial systolic murmur with back irradiation was found on auscultation. New transthoracic echocardiography showed high velocities in the pulmonary artery and a mass with intermediate echogenicity located at the base of the heart in close relation to the aorta and the pulmonary artery, extending into the left atrioventricular groove ( Figure 1, Videos 1 and 2 ). Free metanephrines in plasma (noradrenaline 4,886.67 pg/mL) and urine (noradrenaline 1,426.9 μg/24 h) were high. Figure 1 Transthoracic echocardiography. Shown is a mass ( white arrow ) with intermediate echogenicity in relation to the great vessels. To obtain better characterization, cardiac magnetic resonance was performed and showed a middle mediastinal mass located in the left atrioventricular groove, extending posteriorly to the left atrial roof and almost surrounding the pulmonary artery anteriorly. The mass was closely associated with the aortic root, but the emergence and path of the left coronary artery and its branches were not adequately visualized ( Figure 2 ). Tissue characterization sequences showed a mass with a heterogeneous appearance on T2-weighted sequences and slightly hyperintense on T1-weighted and T2 with fat saturation sequences ( Figure 2 ). Important mass vascularization was demonstrated with the perfusion sequence, which showed rapid uptake of contrast shortly after its administration. We also found focal late gadolinium enhancement at the periphery of the mass, with no enhancement at its center, a finding that was considered highly suggestive of a paraganglioma ( Figure 3 ). Fluorine-18 fluorodeoxyglucose positron emission tomography was also performed, demonstrating a highly metabolic mass ( Figure 4 ). Figure 2 Cardiac magnetic resonance. (1) Coronal: isointense mass in relation to the left atrial roof. (2) Two-chamber longitudinal: isointense mass in the left atrioventricular groove. (3,4) Axial: mass in relation to the aortic root and the pulmonary artery. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 3 Cardiac magnetic resonance. Delayed enhancement. Focal deposit of gadolinium in the periphery of the mass. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 4 Positron emission tomography with 18F-fluorodeoxyglucose (10 mCi). Hypermetabolic mass in the middle mediastinum. Images reproduced with permission from Clínica del Country-Bogotá-Colombia. The case was discussed with the heart team and other departments, such as endocrinology and oncology, concluding that the patient had a clear indication for surgery, with α- and β-blockade, high sodium intake, and adequate hydration before the procedure. However, given that there were doubts regarding the emergence of the left coronary artery and its pathway, coronary angiotomography was performed. The mass was found to surround the left main coronary artery, the proximal segment of the left anterior descending coronary artery, the circumflex coronary artery, and two septal arteries, as well as the great cardiac vein ( Figure 5, Figure 6, Figure 7 ). At that time, and because of these findings, the intervention was considered to be a high-risk procedure. Isotopic radiation with 131 I meta-iodine benzyl guanidine (MIBG) was considered as a palliative intervention, but this approach was rejected because of the risk for hypertensive crises of unpredictable severity. Another approach that was considered was the use of octeotride, but this alternative was not accepted by the multidisciplinary group, because there was a risk for irradiation of adjacent tissue, including the coronary arteries, with an unknown benefit. The risk/benefit assessment of this therapy did not favor the patient either, and surgery was thought to be the only option. Coronary angiography was done looking for a main feeding artery that could be embolized preoperatively to reduce the tumor size and intraoperative blood loss. However, embolization could not be done, because there were many small feeding arteries coming from the left main coronary artery ( Figure 8 ). The patient underwent mass resection, requiring a complete transverse arteriotomy of the ascending aorta, pulmonary trunk, and section of the superior vena cava. The mass was exposed using caudal traction and was found to be closely associated with the posterior wall of the ascending aorta, the pulmonary artery, and the left atrial roof, without infiltration of these structures. Involvement of the left coronary artery trunk was documented, which required ligation and revascularization of the anterior descending coronary artery and the circumflex coronary artery. The mass could be completely resected ( Figure 9 ). Figure 5 Coronary computed tomography. Mass surrounding the left main coronary artery and the proximal segment of the anterior descending and the circumflex coronary arteries. Figure 6 Coronary computed tomography. Mass surrounding the pulmonary artery. Figure 7 Coronary computed tomography. Mass located in the left atrioventricular groove. Figure 8 Coronary arteriography. Mass irrigated by multiple small vessels arising from the anterior descending coronary artery. Figure 9 Surgical specimen. Resected mass. The patient progressed well and was able to be extubated and have her vasopressor support discontinued. Follow-up echocardiography showed that systolic function was moderately affected, with an ejection fraction of 35% and diffuse hypokinesia, which was more pronounced in the anterior descending coronary artery territory. Because of these findings, new coronary angiography was performed, ruling out saphenous bridge compromise ( Figure 10 ). Further follow-up echocardiography showed improvement in systolic function, with an ejection fraction of 55% and preserved contractility of all segments except the basal segment of the anterior septum, which continued to be akinetic. There was also moderate pericardial effusion without increased intrapericardial pressure ( Figure 11, Videos 3 and 4 ). Figure 10 Coronary angiography. Saphenous bridge patent to the anterior descending artery, without lesions. Figure 11 Transthoracic echocardiography. (1) Parasternal view in diastole: pericardial effusion. (2) Parasternal view in systole: akinesia of the basal anteroseptal segment. The pathology report of the surgical specimen described round and oval cells in an organoid pattern with fine chromatin nuclei and degenerative focal atypia ( Figure 12 ). These findings and the immunohistochemical studies were compatible with a paraganglioma. The genetic study showed a succinate dehydrogenase subunit B mutation. The patient progressed satisfactorily and was discharged. One month later, it was found that one of her father's cousins had a para-aortic pheochromocytoma, an incidental finding in the emergency department due to abdominal pain. Figure 12 Round and oval cells, arranged in an organoid pattern, with degenerative focal atypia."}
|
Genitourinary-System
|
GU
|
[] |
6302035
|
{'Case Presentation': "We present a case of cardiac paraganglioma with left coronary artery involvement. The patient was a 22-year-old woman with a clinical history of recurrent episodes of palpitations, diaphoresis, and headache. She was found to have high blood pressure and, because of her age, several studies were done looking for secondary hypertension. Results of transthoracic echocardiography and renal Doppler imaging were normal, and plasma and urine metanephrine levels were within normal limits. Ambulatory blood pressure monitoring found severe hypertension, and the patient started treatment with angiotensin receptor blockers. After 2 years, she continued to have the same symptoms, but at this time, a mesocardial systolic murmur with back irradiation was found on auscultation. New transthoracic echocardiography showed high velocities in the pulmonary artery and a mass with intermediate echogenicity located at the base of the heart in close relation to the aorta and the pulmonary artery, extending into the left atrioventricular groove ( Figure 1, Videos 1 and 2 ). Free metanephrines in plasma (noradrenaline 4,886.67 pg/mL) and urine (noradrenaline 1,426.9 μg/24 h) were high. Figure 1 Transthoracic echocardiography. Shown is a mass ( white arrow ) with intermediate echogenicity in relation to the great vessels. To obtain better characterization, cardiac magnetic resonance was performed and showed a middle mediastinal mass located in the left atrioventricular groove, extending posteriorly to the left atrial roof and almost surrounding the pulmonary artery anteriorly. The mass was closely associated with the aortic root, but the emergence and path of the left coronary artery and its branches were not adequately visualized ( Figure 2 ). Tissue characterization sequences showed a mass with a heterogeneous appearance on T2-weighted sequences and slightly hyperintense on T1-weighted and T2 with fat saturation sequences ( Figure 2 ). Important mass vascularization was demonstrated with the perfusion sequence, which showed rapid uptake of contrast shortly after its administration. We also found focal late gadolinium enhancement at the periphery of the mass, with no enhancement at its center, a finding that was considered highly suggestive of a paraganglioma ( Figure 3 ). Fluorine-18 fluorodeoxyglucose positron emission tomography was also performed, demonstrating a highly metabolic mass ( Figure 4 ). Figure 2 Cardiac magnetic resonance. (1) Coronal: isointense mass in relation to the left atrial roof. (2) Two-chamber longitudinal: isointense mass in the left atrioventricular groove. (3,4) Axial: mass in relation to the aortic root and the pulmonary artery. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 3 Cardiac magnetic resonance. Delayed enhancement. Focal deposit of gadolinium in the periphery of the mass. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 4 Positron emission tomography with 18F-fluorodeoxyglucose (10 mCi). Hypermetabolic mass in the middle mediastinum. Images reproduced with permission from Clínica del Country-Bogotá-Colombia. The case was discussed with the heart team and other departments, such as endocrinology and oncology, concluding that the patient had a clear indication for surgery, with α- and β-blockade, high sodium intake, and adequate hydration before the procedure. However, given that there were doubts regarding the emergence of the left coronary artery and its pathway, coronary angiotomography was performed. The mass was found to surround the left main coronary artery, the proximal segment of the left anterior descending coronary artery, the circumflex coronary artery, and two septal arteries, as well as the great cardiac vein ( Figure 5, Figure 6, Figure 7 ). At that time, and because of these findings, the intervention was considered to be a high-risk procedure. Isotopic radiation with 131 I meta-iodine benzyl guanidine (MIBG) was considered as a palliative intervention, but this approach was rejected because of the risk for hypertensive crises of unpredictable severity. Another approach that was considered was the use of octeotride, but this alternative was not accepted by the multidisciplinary group, because there was a risk for irradiation of adjacent tissue, including the coronary arteries, with an unknown benefit. The risk/benefit assessment of this therapy did not favor the patient either, and surgery was thought to be the only option. Coronary angiography was done looking for a main feeding artery that could be embolized preoperatively to reduce the tumor size and intraoperative blood loss. However, embolization could not be done, because there were many small feeding arteries coming from the left main coronary artery ( Figure 8 ). The patient underwent mass resection, requiring a complete transverse arteriotomy of the ascending aorta, pulmonary trunk, and section of the superior vena cava. The mass was exposed using caudal traction and was found to be closely associated with the posterior wall of the ascending aorta, the pulmonary artery, and the left atrial roof, without infiltration of these structures. Involvement of the left coronary artery trunk was documented, which required ligation and revascularization of the anterior descending coronary artery and the circumflex coronary artery. The mass could be completely resected ( Figure 9 ). Figure 5 Coronary computed tomography. Mass surrounding the left main coronary artery and the proximal segment of the anterior descending and the circumflex coronary arteries. Figure 6 Coronary computed tomography. Mass surrounding the pulmonary artery. Figure 7 Coronary computed tomography. Mass located in the left atrioventricular groove. Figure 8 Coronary arteriography. Mass irrigated by multiple small vessels arising from the anterior descending coronary artery. Figure 9 Surgical specimen. Resected mass. The patient progressed well and was able to be extubated and have her vasopressor support discontinued. Follow-up echocardiography showed that systolic function was moderately affected, with an ejection fraction of 35% and diffuse hypokinesia, which was more pronounced in the anterior descending coronary artery territory. Because of these findings, new coronary angiography was performed, ruling out saphenous bridge compromise ( Figure 10 ). Further follow-up echocardiography showed improvement in systolic function, with an ejection fraction of 55% and preserved contractility of all segments except the basal segment of the anterior septum, which continued to be akinetic. There was also moderate pericardial effusion without increased intrapericardial pressure ( Figure 11, Videos 3 and 4 ). Figure 10 Coronary angiography. Saphenous bridge patent to the anterior descending artery, without lesions. Figure 11 Transthoracic echocardiography. (1) Parasternal view in diastole: pericardial effusion. (2) Parasternal view in systole: akinesia of the basal anteroseptal segment. The pathology report of the surgical specimen described round and oval cells in an organoid pattern with fine chromatin nuclei and degenerative focal atypia ( Figure 12 ). These findings and the immunohistochemical studies were compatible with a paraganglioma. The genetic study showed a succinate dehydrogenase subunit B mutation. The patient progressed satisfactorily and was discharged. One month later, it was found that one of her father's cousins had a para-aortic pheochromocytoma, an incidental finding in the emergency department due to abdominal pain. Figure 12 Round and oval cells, arranged in an organoid pattern, with degenerative focal atypia."}
|
{'Case Presentation': "We present a case of cardiac paraganglioma with left coronary artery involvement. The patient was a 22-year-old woman with a clinical history of recurrent episodes of palpitations, diaphoresis, and headache. She was found to have high blood pressure and, because of her age, several studies were done looking for secondary hypertension. Results of transthoracic echocardiography and renal Doppler imaging were normal, and plasma and urine metanephrine levels were within normal limits. Ambulatory blood pressure monitoring found severe hypertension, and the patient started treatment with angiotensin receptor blockers. After 2 years, she continued to have the same symptoms, but at this time, a mesocardial systolic murmur with back irradiation was found on auscultation. New transthoracic echocardiography showed high velocities in the pulmonary artery and a mass with intermediate echogenicity located at the base of the heart in close relation to the aorta and the pulmonary artery, extending into the left atrioventricular groove ( Figure 1, Videos 1 and 2 ). Free metanephrines in plasma (noradrenaline 4,886.67 pg/mL) and urine (noradrenaline 1,426.9 μg/24 h) were high. Figure 1 Transthoracic echocardiography. Shown is a mass ( white arrow ) with intermediate echogenicity in relation to the great vessels. To obtain better characterization, cardiac magnetic resonance was performed and showed a middle mediastinal mass located in the left atrioventricular groove, extending posteriorly to the left atrial roof and almost surrounding the pulmonary artery anteriorly. The mass was closely associated with the aortic root, but the emergence and path of the left coronary artery and its branches were not adequately visualized ( Figure 2 ). Tissue characterization sequences showed a mass with a heterogeneous appearance on T2-weighted sequences and slightly hyperintense on T1-weighted and T2 with fat saturation sequences ( Figure 2 ). Important mass vascularization was demonstrated with the perfusion sequence, which showed rapid uptake of contrast shortly after its administration. We also found focal late gadolinium enhancement at the periphery of the mass, with no enhancement at its center, a finding that was considered highly suggestive of a paraganglioma ( Figure 3 ). Fluorine-18 fluorodeoxyglucose positron emission tomography was also performed, demonstrating a highly metabolic mass ( Figure 4 ). Figure 2 Cardiac magnetic resonance. (1) Coronal: isointense mass in relation to the left atrial roof. (2) Two-chamber longitudinal: isointense mass in the left atrioventricular groove. (3,4) Axial: mass in relation to the aortic root and the pulmonary artery. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 3 Cardiac magnetic resonance. Delayed enhancement. Focal deposit of gadolinium in the periphery of the mass. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 4 Positron emission tomography with 18F-fluorodeoxyglucose (10 mCi). Hypermetabolic mass in the middle mediastinum. Images reproduced with permission from Clínica del Country-Bogotá-Colombia. The case was discussed with the heart team and other departments, such as endocrinology and oncology, concluding that the patient had a clear indication for surgery, with α- and β-blockade, high sodium intake, and adequate hydration before the procedure. However, given that there were doubts regarding the emergence of the left coronary artery and its pathway, coronary angiotomography was performed. The mass was found to surround the left main coronary artery, the proximal segment of the left anterior descending coronary artery, the circumflex coronary artery, and two septal arteries, as well as the great cardiac vein ( Figure 5, Figure 6, Figure 7 ). At that time, and because of these findings, the intervention was considered to be a high-risk procedure. Isotopic radiation with 131 I meta-iodine benzyl guanidine (MIBG) was considered as a palliative intervention, but this approach was rejected because of the risk for hypertensive crises of unpredictable severity. Another approach that was considered was the use of octeotride, but this alternative was not accepted by the multidisciplinary group, because there was a risk for irradiation of adjacent tissue, including the coronary arteries, with an unknown benefit. The risk/benefit assessment of this therapy did not favor the patient either, and surgery was thought to be the only option. Coronary angiography was done looking for a main feeding artery that could be embolized preoperatively to reduce the tumor size and intraoperative blood loss. However, embolization could not be done, because there were many small feeding arteries coming from the left main coronary artery ( Figure 8 ). The patient underwent mass resection, requiring a complete transverse arteriotomy of the ascending aorta, pulmonary trunk, and section of the superior vena cava. The mass was exposed using caudal traction and was found to be closely associated with the posterior wall of the ascending aorta, the pulmonary artery, and the left atrial roof, without infiltration of these structures. Involvement of the left coronary artery trunk was documented, which required ligation and revascularization of the anterior descending coronary artery and the circumflex coronary artery. The mass could be completely resected ( Figure 9 ). Figure 5 Coronary computed tomography. Mass surrounding the left main coronary artery and the proximal segment of the anterior descending and the circumflex coronary arteries. Figure 6 Coronary computed tomography. Mass surrounding the pulmonary artery. Figure 7 Coronary computed tomography. Mass located in the left atrioventricular groove. Figure 8 Coronary arteriography. Mass irrigated by multiple small vessels arising from the anterior descending coronary artery. Figure 9 Surgical specimen. Resected mass. The patient progressed well and was able to be extubated and have her vasopressor support discontinued. Follow-up echocardiography showed that systolic function was moderately affected, with an ejection fraction of 35% and diffuse hypokinesia, which was more pronounced in the anterior descending coronary artery territory. Because of these findings, new coronary angiography was performed, ruling out saphenous bridge compromise ( Figure 10 ). Further follow-up echocardiography showed improvement in systolic function, with an ejection fraction of 55% and preserved contractility of all segments except the basal segment of the anterior septum, which continued to be akinetic. There was also moderate pericardial effusion without increased intrapericardial pressure ( Figure 11, Videos 3 and 4 ). Figure 10 Coronary angiography. Saphenous bridge patent to the anterior descending artery, without lesions. Figure 11 Transthoracic echocardiography. (1) Parasternal view in diastole: pericardial effusion. (2) Parasternal view in systole: akinesia of the basal anteroseptal segment. The pathology report of the surgical specimen described round and oval cells in an organoid pattern with fine chromatin nuclei and degenerative focal atypia ( Figure 12 ). These findings and the immunohistochemical studies were compatible with a paraganglioma. The genetic study showed a succinate dehydrogenase subunit B mutation. The patient progressed satisfactorily and was discharged. One month later, it was found that one of her father's cousins had a para-aortic pheochromocytoma, an incidental finding in the emergency department due to abdominal pain. Figure 12 Round and oval cells, arranged in an organoid pattern, with degenerative focal atypia."}
|
Respiratory-System
|
RESP
|
[] |
6302035
|
{'Case Presentation': "We present a case of cardiac paraganglioma with left coronary artery involvement. The patient was a 22-year-old woman with a clinical history of recurrent episodes of palpitations, diaphoresis, and headache. She was found to have high blood pressure and, because of her age, several studies were done looking for secondary hypertension. Results of transthoracic echocardiography and renal Doppler imaging were normal, and plasma and urine metanephrine levels were within normal limits. Ambulatory blood pressure monitoring found severe hypertension, and the patient started treatment with angiotensin receptor blockers. After 2 years, she continued to have the same symptoms, but at this time, a mesocardial systolic murmur with back irradiation was found on auscultation. New transthoracic echocardiography showed high velocities in the pulmonary artery and a mass with intermediate echogenicity located at the base of the heart in close relation to the aorta and the pulmonary artery, extending into the left atrioventricular groove ( Figure 1, Videos 1 and 2 ). Free metanephrines in plasma (noradrenaline 4,886.67 pg/mL) and urine (noradrenaline 1,426.9 μg/24 h) were high. Figure 1 Transthoracic echocardiography. Shown is a mass ( white arrow ) with intermediate echogenicity in relation to the great vessels. To obtain better characterization, cardiac magnetic resonance was performed and showed a middle mediastinal mass located in the left atrioventricular groove, extending posteriorly to the left atrial roof and almost surrounding the pulmonary artery anteriorly. The mass was closely associated with the aortic root, but the emergence and path of the left coronary artery and its branches were not adequately visualized ( Figure 2 ). Tissue characterization sequences showed a mass with a heterogeneous appearance on T2-weighted sequences and slightly hyperintense on T1-weighted and T2 with fat saturation sequences ( Figure 2 ). Important mass vascularization was demonstrated with the perfusion sequence, which showed rapid uptake of contrast shortly after its administration. We also found focal late gadolinium enhancement at the periphery of the mass, with no enhancement at its center, a finding that was considered highly suggestive of a paraganglioma ( Figure 3 ). Fluorine-18 fluorodeoxyglucose positron emission tomography was also performed, demonstrating a highly metabolic mass ( Figure 4 ). Figure 2 Cardiac magnetic resonance. (1) Coronal: isointense mass in relation to the left atrial roof. (2) Two-chamber longitudinal: isointense mass in the left atrioventricular groove. (3,4) Axial: mass in relation to the aortic root and the pulmonary artery. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 3 Cardiac magnetic resonance. Delayed enhancement. Focal deposit of gadolinium in the periphery of the mass. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 4 Positron emission tomography with 18F-fluorodeoxyglucose (10 mCi). Hypermetabolic mass in the middle mediastinum. Images reproduced with permission from Clínica del Country-Bogotá-Colombia. The case was discussed with the heart team and other departments, such as endocrinology and oncology, concluding that the patient had a clear indication for surgery, with α- and β-blockade, high sodium intake, and adequate hydration before the procedure. However, given that there were doubts regarding the emergence of the left coronary artery and its pathway, coronary angiotomography was performed. The mass was found to surround the left main coronary artery, the proximal segment of the left anterior descending coronary artery, the circumflex coronary artery, and two septal arteries, as well as the great cardiac vein ( Figure 5, Figure 6, Figure 7 ). At that time, and because of these findings, the intervention was considered to be a high-risk procedure. Isotopic radiation with 131 I meta-iodine benzyl guanidine (MIBG) was considered as a palliative intervention, but this approach was rejected because of the risk for hypertensive crises of unpredictable severity. Another approach that was considered was the use of octeotride, but this alternative was not accepted by the multidisciplinary group, because there was a risk for irradiation of adjacent tissue, including the coronary arteries, with an unknown benefit. The risk/benefit assessment of this therapy did not favor the patient either, and surgery was thought to be the only option. Coronary angiography was done looking for a main feeding artery that could be embolized preoperatively to reduce the tumor size and intraoperative blood loss. However, embolization could not be done, because there were many small feeding arteries coming from the left main coronary artery ( Figure 8 ). The patient underwent mass resection, requiring a complete transverse arteriotomy of the ascending aorta, pulmonary trunk, and section of the superior vena cava. The mass was exposed using caudal traction and was found to be closely associated with the posterior wall of the ascending aorta, the pulmonary artery, and the left atrial roof, without infiltration of these structures. Involvement of the left coronary artery trunk was documented, which required ligation and revascularization of the anterior descending coronary artery and the circumflex coronary artery. The mass could be completely resected ( Figure 9 ). Figure 5 Coronary computed tomography. Mass surrounding the left main coronary artery and the proximal segment of the anterior descending and the circumflex coronary arteries. Figure 6 Coronary computed tomography. Mass surrounding the pulmonary artery. Figure 7 Coronary computed tomography. Mass located in the left atrioventricular groove. Figure 8 Coronary arteriography. Mass irrigated by multiple small vessels arising from the anterior descending coronary artery. Figure 9 Surgical specimen. Resected mass. The patient progressed well and was able to be extubated and have her vasopressor support discontinued. Follow-up echocardiography showed that systolic function was moderately affected, with an ejection fraction of 35% and diffuse hypokinesia, which was more pronounced in the anterior descending coronary artery territory. Because of these findings, new coronary angiography was performed, ruling out saphenous bridge compromise ( Figure 10 ). Further follow-up echocardiography showed improvement in systolic function, with an ejection fraction of 55% and preserved contractility of all segments except the basal segment of the anterior septum, which continued to be akinetic. There was also moderate pericardial effusion without increased intrapericardial pressure ( Figure 11, Videos 3 and 4 ). Figure 10 Coronary angiography. Saphenous bridge patent to the anterior descending artery, without lesions. Figure 11 Transthoracic echocardiography. (1) Parasternal view in diastole: pericardial effusion. (2) Parasternal view in systole: akinesia of the basal anteroseptal segment. The pathology report of the surgical specimen described round and oval cells in an organoid pattern with fine chromatin nuclei and degenerative focal atypia ( Figure 12 ). These findings and the immunohistochemical studies were compatible with a paraganglioma. The genetic study showed a succinate dehydrogenase subunit B mutation. The patient progressed satisfactorily and was discharged. One month later, it was found that one of her father's cousins had a para-aortic pheochromocytoma, an incidental finding in the emergency department due to abdominal pain. Figure 12 Round and oval cells, arranged in an organoid pattern, with degenerative focal atypia."}
|
{'Case Presentation': "We present a case of cardiac paraganglioma with left coronary artery involvement. The patient was a 22-year-old woman with a clinical history of recurrent episodes of palpitations, diaphoresis, and headache. She was found to have high blood pressure and, because of her age, several studies were done looking for secondary hypertension. Results of transthoracic echocardiography and renal Doppler imaging were normal, and plasma and urine metanephrine levels were within normal limits. Ambulatory blood pressure monitoring found severe hypertension, and the patient started treatment with angiotensin receptor blockers. After 2 years, she continued to have the same symptoms, but at this time, a mesocardial systolic murmur with back irradiation was found on auscultation. New transthoracic echocardiography showed high velocities in the pulmonary artery and a mass with intermediate echogenicity located at the base of the heart in close relation to the aorta and the pulmonary artery, extending into the left atrioventricular groove ( Figure 1, Videos 1 and 2 ). Free metanephrines in plasma (noradrenaline 4,886.67 pg/mL) and urine (noradrenaline 1,426.9 μg/24 h) were high. Figure 1 Transthoracic echocardiography. Shown is a mass ( white arrow ) with intermediate echogenicity in relation to the great vessels. To obtain better characterization, cardiac magnetic resonance was performed and showed a middle mediastinal mass located in the left atrioventricular groove, extending posteriorly to the left atrial roof and almost surrounding the pulmonary artery anteriorly. The mass was closely associated with the aortic root, but the emergence and path of the left coronary artery and its branches were not adequately visualized ( Figure 2 ). Tissue characterization sequences showed a mass with a heterogeneous appearance on T2-weighted sequences and slightly hyperintense on T1-weighted and T2 with fat saturation sequences ( Figure 2 ). Important mass vascularization was demonstrated with the perfusion sequence, which showed rapid uptake of contrast shortly after its administration. We also found focal late gadolinium enhancement at the periphery of the mass, with no enhancement at its center, a finding that was considered highly suggestive of a paraganglioma ( Figure 3 ). Fluorine-18 fluorodeoxyglucose positron emission tomography was also performed, demonstrating a highly metabolic mass ( Figure 4 ). Figure 2 Cardiac magnetic resonance. (1) Coronal: isointense mass in relation to the left atrial roof. (2) Two-chamber longitudinal: isointense mass in the left atrioventricular groove. (3,4) Axial: mass in relation to the aortic root and the pulmonary artery. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 3 Cardiac magnetic resonance. Delayed enhancement. Focal deposit of gadolinium in the periphery of the mass. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 4 Positron emission tomography with 18F-fluorodeoxyglucose (10 mCi). Hypermetabolic mass in the middle mediastinum. Images reproduced with permission from Clínica del Country-Bogotá-Colombia. The case was discussed with the heart team and other departments, such as endocrinology and oncology, concluding that the patient had a clear indication for surgery, with α- and β-blockade, high sodium intake, and adequate hydration before the procedure. However, given that there were doubts regarding the emergence of the left coronary artery and its pathway, coronary angiotomography was performed. The mass was found to surround the left main coronary artery, the proximal segment of the left anterior descending coronary artery, the circumflex coronary artery, and two septal arteries, as well as the great cardiac vein ( Figure 5, Figure 6, Figure 7 ). At that time, and because of these findings, the intervention was considered to be a high-risk procedure. Isotopic radiation with 131 I meta-iodine benzyl guanidine (MIBG) was considered as a palliative intervention, but this approach was rejected because of the risk for hypertensive crises of unpredictable severity. Another approach that was considered was the use of octeotride, but this alternative was not accepted by the multidisciplinary group, because there was a risk for irradiation of adjacent tissue, including the coronary arteries, with an unknown benefit. The risk/benefit assessment of this therapy did not favor the patient either, and surgery was thought to be the only option. Coronary angiography was done looking for a main feeding artery that could be embolized preoperatively to reduce the tumor size and intraoperative blood loss. However, embolization could not be done, because there were many small feeding arteries coming from the left main coronary artery ( Figure 8 ). The patient underwent mass resection, requiring a complete transverse arteriotomy of the ascending aorta, pulmonary trunk, and section of the superior vena cava. The mass was exposed using caudal traction and was found to be closely associated with the posterior wall of the ascending aorta, the pulmonary artery, and the left atrial roof, without infiltration of these structures. Involvement of the left coronary artery trunk was documented, which required ligation and revascularization of the anterior descending coronary artery and the circumflex coronary artery. The mass could be completely resected ( Figure 9 ). Figure 5 Coronary computed tomography. Mass surrounding the left main coronary artery and the proximal segment of the anterior descending and the circumflex coronary arteries. Figure 6 Coronary computed tomography. Mass surrounding the pulmonary artery. Figure 7 Coronary computed tomography. Mass located in the left atrioventricular groove. Figure 8 Coronary arteriography. Mass irrigated by multiple small vessels arising from the anterior descending coronary artery. Figure 9 Surgical specimen. Resected mass. The patient progressed well and was able to be extubated and have her vasopressor support discontinued. Follow-up echocardiography showed that systolic function was moderately affected, with an ejection fraction of 35% and diffuse hypokinesia, which was more pronounced in the anterior descending coronary artery territory. Because of these findings, new coronary angiography was performed, ruling out saphenous bridge compromise ( Figure 10 ). Further follow-up echocardiography showed improvement in systolic function, with an ejection fraction of 55% and preserved contractility of all segments except the basal segment of the anterior septum, which continued to be akinetic. There was also moderate pericardial effusion without increased intrapericardial pressure ( Figure 11, Videos 3 and 4 ). Figure 10 Coronary angiography. Saphenous bridge patent to the anterior descending artery, without lesions. Figure 11 Transthoracic echocardiography. (1) Parasternal view in diastole: pericardial effusion. (2) Parasternal view in systole: akinesia of the basal anteroseptal segment. The pathology report of the surgical specimen described round and oval cells in an organoid pattern with fine chromatin nuclei and degenerative focal atypia ( Figure 12 ). These findings and the immunohistochemical studies were compatible with a paraganglioma. The genetic study showed a succinate dehydrogenase subunit B mutation. The patient progressed satisfactorily and was discharged. One month later, it was found that one of her father's cousins had a para-aortic pheochromocytoma, an incidental finding in the emergency department due to abdominal pain. Figure 12 Round and oval cells, arranged in an organoid pattern, with degenerative focal atypia."}
|
Musculoskeletal-System
|
MSK
|
[] |
6302035
|
{'Case Presentation': "We present a case of cardiac paraganglioma with left coronary artery involvement. The patient was a 22-year-old woman with a clinical history of recurrent episodes of palpitations, diaphoresis, and headache. She was found to have high blood pressure and, because of her age, several studies were done looking for secondary hypertension. Results of transthoracic echocardiography and renal Doppler imaging were normal, and plasma and urine metanephrine levels were within normal limits. Ambulatory blood pressure monitoring found severe hypertension, and the patient started treatment with angiotensin receptor blockers. After 2 years, she continued to have the same symptoms, but at this time, a mesocardial systolic murmur with back irradiation was found on auscultation. New transthoracic echocardiography showed high velocities in the pulmonary artery and a mass with intermediate echogenicity located at the base of the heart in close relation to the aorta and the pulmonary artery, extending into the left atrioventricular groove ( Figure 1, Videos 1 and 2 ). Free metanephrines in plasma (noradrenaline 4,886.67 pg/mL) and urine (noradrenaline 1,426.9 μg/24 h) were high. Figure 1 Transthoracic echocardiography. Shown is a mass ( white arrow ) with intermediate echogenicity in relation to the great vessels. To obtain better characterization, cardiac magnetic resonance was performed and showed a middle mediastinal mass located in the left atrioventricular groove, extending posteriorly to the left atrial roof and almost surrounding the pulmonary artery anteriorly. The mass was closely associated with the aortic root, but the emergence and path of the left coronary artery and its branches were not adequately visualized ( Figure 2 ). Tissue characterization sequences showed a mass with a heterogeneous appearance on T2-weighted sequences and slightly hyperintense on T1-weighted and T2 with fat saturation sequences ( Figure 2 ). Important mass vascularization was demonstrated with the perfusion sequence, which showed rapid uptake of contrast shortly after its administration. We also found focal late gadolinium enhancement at the periphery of the mass, with no enhancement at its center, a finding that was considered highly suggestive of a paraganglioma ( Figure 3 ). Fluorine-18 fluorodeoxyglucose positron emission tomography was also performed, demonstrating a highly metabolic mass ( Figure 4 ). Figure 2 Cardiac magnetic resonance. (1) Coronal: isointense mass in relation to the left atrial roof. (2) Two-chamber longitudinal: isointense mass in the left atrioventricular groove. (3,4) Axial: mass in relation to the aortic root and the pulmonary artery. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 3 Cardiac magnetic resonance. Delayed enhancement. Focal deposit of gadolinium in the periphery of the mass. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 4 Positron emission tomography with 18F-fluorodeoxyglucose (10 mCi). Hypermetabolic mass in the middle mediastinum. Images reproduced with permission from Clínica del Country-Bogotá-Colombia. The case was discussed with the heart team and other departments, such as endocrinology and oncology, concluding that the patient had a clear indication for surgery, with α- and β-blockade, high sodium intake, and adequate hydration before the procedure. However, given that there were doubts regarding the emergence of the left coronary artery and its pathway, coronary angiotomography was performed. The mass was found to surround the left main coronary artery, the proximal segment of the left anterior descending coronary artery, the circumflex coronary artery, and two septal arteries, as well as the great cardiac vein ( Figure 5, Figure 6, Figure 7 ). At that time, and because of these findings, the intervention was considered to be a high-risk procedure. Isotopic radiation with 131 I meta-iodine benzyl guanidine (MIBG) was considered as a palliative intervention, but this approach was rejected because of the risk for hypertensive crises of unpredictable severity. Another approach that was considered was the use of octeotride, but this alternative was not accepted by the multidisciplinary group, because there was a risk for irradiation of adjacent tissue, including the coronary arteries, with an unknown benefit. The risk/benefit assessment of this therapy did not favor the patient either, and surgery was thought to be the only option. Coronary angiography was done looking for a main feeding artery that could be embolized preoperatively to reduce the tumor size and intraoperative blood loss. However, embolization could not be done, because there were many small feeding arteries coming from the left main coronary artery ( Figure 8 ). The patient underwent mass resection, requiring a complete transverse arteriotomy of the ascending aorta, pulmonary trunk, and section of the superior vena cava. The mass was exposed using caudal traction and was found to be closely associated with the posterior wall of the ascending aorta, the pulmonary artery, and the left atrial roof, without infiltration of these structures. Involvement of the left coronary artery trunk was documented, which required ligation and revascularization of the anterior descending coronary artery and the circumflex coronary artery. The mass could be completely resected ( Figure 9 ). Figure 5 Coronary computed tomography. Mass surrounding the left main coronary artery and the proximal segment of the anterior descending and the circumflex coronary arteries. Figure 6 Coronary computed tomography. Mass surrounding the pulmonary artery. Figure 7 Coronary computed tomography. Mass located in the left atrioventricular groove. Figure 8 Coronary arteriography. Mass irrigated by multiple small vessels arising from the anterior descending coronary artery. Figure 9 Surgical specimen. Resected mass. The patient progressed well and was able to be extubated and have her vasopressor support discontinued. Follow-up echocardiography showed that systolic function was moderately affected, with an ejection fraction of 35% and diffuse hypokinesia, which was more pronounced in the anterior descending coronary artery territory. Because of these findings, new coronary angiography was performed, ruling out saphenous bridge compromise ( Figure 10 ). Further follow-up echocardiography showed improvement in systolic function, with an ejection fraction of 55% and preserved contractility of all segments except the basal segment of the anterior septum, which continued to be akinetic. There was also moderate pericardial effusion without increased intrapericardial pressure ( Figure 11, Videos 3 and 4 ). Figure 10 Coronary angiography. Saphenous bridge patent to the anterior descending artery, without lesions. Figure 11 Transthoracic echocardiography. (1) Parasternal view in diastole: pericardial effusion. (2) Parasternal view in systole: akinesia of the basal anteroseptal segment. The pathology report of the surgical specimen described round and oval cells in an organoid pattern with fine chromatin nuclei and degenerative focal atypia ( Figure 12 ). These findings and the immunohistochemical studies were compatible with a paraganglioma. The genetic study showed a succinate dehydrogenase subunit B mutation. The patient progressed satisfactorily and was discharged. One month later, it was found that one of her father's cousins had a para-aortic pheochromocytoma, an incidental finding in the emergency department due to abdominal pain. Figure 12 Round and oval cells, arranged in an organoid pattern, with degenerative focal atypia."}
|
{'Case Presentation': "We present a case of cardiac paraganglioma with left coronary artery involvement. The patient was a 22-year-old woman with a clinical history of recurrent episodes of palpitations, diaphoresis, and headache. She was found to have high blood pressure and, because of her age, several studies were done looking for secondary hypertension. Results of transthoracic echocardiography and renal Doppler imaging were normal, and plasma and urine metanephrine levels were within normal limits. Ambulatory blood pressure monitoring found severe hypertension, and the patient started treatment with angiotensin receptor blockers. After 2 years, she continued to have the same symptoms, but at this time, a mesocardial systolic murmur with back irradiation was found on auscultation. New transthoracic echocardiography showed high velocities in the pulmonary artery and a mass with intermediate echogenicity located at the base of the heart in close relation to the aorta and the pulmonary artery, extending into the left atrioventricular groove ( Figure 1, Videos 1 and 2 ). Free metanephrines in plasma (noradrenaline 4,886.67 pg/mL) and urine (noradrenaline 1,426.9 μg/24 h) were high. Figure 1 Transthoracic echocardiography. Shown is a mass ( white arrow ) with intermediate echogenicity in relation to the great vessels. To obtain better characterization, cardiac magnetic resonance was performed and showed a middle mediastinal mass located in the left atrioventricular groove, extending posteriorly to the left atrial roof and almost surrounding the pulmonary artery anteriorly. The mass was closely associated with the aortic root, but the emergence and path of the left coronary artery and its branches were not adequately visualized ( Figure 2 ). Tissue characterization sequences showed a mass with a heterogeneous appearance on T2-weighted sequences and slightly hyperintense on T1-weighted and T2 with fat saturation sequences ( Figure 2 ). Important mass vascularization was demonstrated with the perfusion sequence, which showed rapid uptake of contrast shortly after its administration. We also found focal late gadolinium enhancement at the periphery of the mass, with no enhancement at its center, a finding that was considered highly suggestive of a paraganglioma ( Figure 3 ). Fluorine-18 fluorodeoxyglucose positron emission tomography was also performed, demonstrating a highly metabolic mass ( Figure 4 ). Figure 2 Cardiac magnetic resonance. (1) Coronal: isointense mass in relation to the left atrial roof. (2) Two-chamber longitudinal: isointense mass in the left atrioventricular groove. (3,4) Axial: mass in relation to the aortic root and the pulmonary artery. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 3 Cardiac magnetic resonance. Delayed enhancement. Focal deposit of gadolinium in the periphery of the mass. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 4 Positron emission tomography with 18F-fluorodeoxyglucose (10 mCi). Hypermetabolic mass in the middle mediastinum. Images reproduced with permission from Clínica del Country-Bogotá-Colombia. The case was discussed with the heart team and other departments, such as endocrinology and oncology, concluding that the patient had a clear indication for surgery, with α- and β-blockade, high sodium intake, and adequate hydration before the procedure. However, given that there were doubts regarding the emergence of the left coronary artery and its pathway, coronary angiotomography was performed. The mass was found to surround the left main coronary artery, the proximal segment of the left anterior descending coronary artery, the circumflex coronary artery, and two septal arteries, as well as the great cardiac vein ( Figure 5, Figure 6, Figure 7 ). At that time, and because of these findings, the intervention was considered to be a high-risk procedure. Isotopic radiation with 131 I meta-iodine benzyl guanidine (MIBG) was considered as a palliative intervention, but this approach was rejected because of the risk for hypertensive crises of unpredictable severity. Another approach that was considered was the use of octeotride, but this alternative was not accepted by the multidisciplinary group, because there was a risk for irradiation of adjacent tissue, including the coronary arteries, with an unknown benefit. The risk/benefit assessment of this therapy did not favor the patient either, and surgery was thought to be the only option. Coronary angiography was done looking for a main feeding artery that could be embolized preoperatively to reduce the tumor size and intraoperative blood loss. However, embolization could not be done, because there were many small feeding arteries coming from the left main coronary artery ( Figure 8 ). The patient underwent mass resection, requiring a complete transverse arteriotomy of the ascending aorta, pulmonary trunk, and section of the superior vena cava. The mass was exposed using caudal traction and was found to be closely associated with the posterior wall of the ascending aorta, the pulmonary artery, and the left atrial roof, without infiltration of these structures. Involvement of the left coronary artery trunk was documented, which required ligation and revascularization of the anterior descending coronary artery and the circumflex coronary artery. The mass could be completely resected ( Figure 9 ). Figure 5 Coronary computed tomography. Mass surrounding the left main coronary artery and the proximal segment of the anterior descending and the circumflex coronary arteries. Figure 6 Coronary computed tomography. Mass surrounding the pulmonary artery. Figure 7 Coronary computed tomography. Mass located in the left atrioventricular groove. Figure 8 Coronary arteriography. Mass irrigated by multiple small vessels arising from the anterior descending coronary artery. Figure 9 Surgical specimen. Resected mass. The patient progressed well and was able to be extubated and have her vasopressor support discontinued. Follow-up echocardiography showed that systolic function was moderately affected, with an ejection fraction of 35% and diffuse hypokinesia, which was more pronounced in the anterior descending coronary artery territory. Because of these findings, new coronary angiography was performed, ruling out saphenous bridge compromise ( Figure 10 ). Further follow-up echocardiography showed improvement in systolic function, with an ejection fraction of 55% and preserved contractility of all segments except the basal segment of the anterior septum, which continued to be akinetic. There was also moderate pericardial effusion without increased intrapericardial pressure ( Figure 11, Videos 3 and 4 ). Figure 10 Coronary angiography. Saphenous bridge patent to the anterior descending artery, without lesions. Figure 11 Transthoracic echocardiography. (1) Parasternal view in diastole: pericardial effusion. (2) Parasternal view in systole: akinesia of the basal anteroseptal segment. The pathology report of the surgical specimen described round and oval cells in an organoid pattern with fine chromatin nuclei and degenerative focal atypia ( Figure 12 ). These findings and the immunohistochemical studies were compatible with a paraganglioma. The genetic study showed a succinate dehydrogenase subunit B mutation. The patient progressed satisfactorily and was discharged. One month later, it was found that one of her father's cousins had a para-aortic pheochromocytoma, an incidental finding in the emergency department due to abdominal pain. Figure 12 Round and oval cells, arranged in an organoid pattern, with degenerative focal atypia."}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[] |
6302035
|
{'Case Presentation': "We present a case of cardiac paraganglioma with left coronary artery involvement. The patient was a 22-year-old woman with a clinical history of recurrent episodes of palpitations, diaphoresis, and headache. She was found to have high blood pressure and, because of her age, several studies were done looking for secondary hypertension. Results of transthoracic echocardiography and renal Doppler imaging were normal, and plasma and urine metanephrine levels were within normal limits. Ambulatory blood pressure monitoring found severe hypertension, and the patient started treatment with angiotensin receptor blockers. After 2 years, she continued to have the same symptoms, but at this time, a mesocardial systolic murmur with back irradiation was found on auscultation. New transthoracic echocardiography showed high velocities in the pulmonary artery and a mass with intermediate echogenicity located at the base of the heart in close relation to the aorta and the pulmonary artery, extending into the left atrioventricular groove ( Figure 1, Videos 1 and 2 ). Free metanephrines in plasma (noradrenaline 4,886.67 pg/mL) and urine (noradrenaline 1,426.9 μg/24 h) were high. Figure 1 Transthoracic echocardiography. Shown is a mass ( white arrow ) with intermediate echogenicity in relation to the great vessels. To obtain better characterization, cardiac magnetic resonance was performed and showed a middle mediastinal mass located in the left atrioventricular groove, extending posteriorly to the left atrial roof and almost surrounding the pulmonary artery anteriorly. The mass was closely associated with the aortic root, but the emergence and path of the left coronary artery and its branches were not adequately visualized ( Figure 2 ). Tissue characterization sequences showed a mass with a heterogeneous appearance on T2-weighted sequences and slightly hyperintense on T1-weighted and T2 with fat saturation sequences ( Figure 2 ). Important mass vascularization was demonstrated with the perfusion sequence, which showed rapid uptake of contrast shortly after its administration. We also found focal late gadolinium enhancement at the periphery of the mass, with no enhancement at its center, a finding that was considered highly suggestive of a paraganglioma ( Figure 3 ). Fluorine-18 fluorodeoxyglucose positron emission tomography was also performed, demonstrating a highly metabolic mass ( Figure 4 ). Figure 2 Cardiac magnetic resonance. (1) Coronal: isointense mass in relation to the left atrial roof. (2) Two-chamber longitudinal: isointense mass in the left atrioventricular groove. (3,4) Axial: mass in relation to the aortic root and the pulmonary artery. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 3 Cardiac magnetic resonance. Delayed enhancement. Focal deposit of gadolinium in the periphery of the mass. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 4 Positron emission tomography with 18F-fluorodeoxyglucose (10 mCi). Hypermetabolic mass in the middle mediastinum. Images reproduced with permission from Clínica del Country-Bogotá-Colombia. The case was discussed with the heart team and other departments, such as endocrinology and oncology, concluding that the patient had a clear indication for surgery, with α- and β-blockade, high sodium intake, and adequate hydration before the procedure. However, given that there were doubts regarding the emergence of the left coronary artery and its pathway, coronary angiotomography was performed. The mass was found to surround the left main coronary artery, the proximal segment of the left anterior descending coronary artery, the circumflex coronary artery, and two septal arteries, as well as the great cardiac vein ( Figure 5, Figure 6, Figure 7 ). At that time, and because of these findings, the intervention was considered to be a high-risk procedure. Isotopic radiation with 131 I meta-iodine benzyl guanidine (MIBG) was considered as a palliative intervention, but this approach was rejected because of the risk for hypertensive crises of unpredictable severity. Another approach that was considered was the use of octeotride, but this alternative was not accepted by the multidisciplinary group, because there was a risk for irradiation of adjacent tissue, including the coronary arteries, with an unknown benefit. The risk/benefit assessment of this therapy did not favor the patient either, and surgery was thought to be the only option. Coronary angiography was done looking for a main feeding artery that could be embolized preoperatively to reduce the tumor size and intraoperative blood loss. However, embolization could not be done, because there were many small feeding arteries coming from the left main coronary artery ( Figure 8 ). The patient underwent mass resection, requiring a complete transverse arteriotomy of the ascending aorta, pulmonary trunk, and section of the superior vena cava. The mass was exposed using caudal traction and was found to be closely associated with the posterior wall of the ascending aorta, the pulmonary artery, and the left atrial roof, without infiltration of these structures. Involvement of the left coronary artery trunk was documented, which required ligation and revascularization of the anterior descending coronary artery and the circumflex coronary artery. The mass could be completely resected ( Figure 9 ). Figure 5 Coronary computed tomography. Mass surrounding the left main coronary artery and the proximal segment of the anterior descending and the circumflex coronary arteries. Figure 6 Coronary computed tomography. Mass surrounding the pulmonary artery. Figure 7 Coronary computed tomography. Mass located in the left atrioventricular groove. Figure 8 Coronary arteriography. Mass irrigated by multiple small vessels arising from the anterior descending coronary artery. Figure 9 Surgical specimen. Resected mass. The patient progressed well and was able to be extubated and have her vasopressor support discontinued. Follow-up echocardiography showed that systolic function was moderately affected, with an ejection fraction of 35% and diffuse hypokinesia, which was more pronounced in the anterior descending coronary artery territory. Because of these findings, new coronary angiography was performed, ruling out saphenous bridge compromise ( Figure 10 ). Further follow-up echocardiography showed improvement in systolic function, with an ejection fraction of 55% and preserved contractility of all segments except the basal segment of the anterior septum, which continued to be akinetic. There was also moderate pericardial effusion without increased intrapericardial pressure ( Figure 11, Videos 3 and 4 ). Figure 10 Coronary angiography. Saphenous bridge patent to the anterior descending artery, without lesions. Figure 11 Transthoracic echocardiography. (1) Parasternal view in diastole: pericardial effusion. (2) Parasternal view in systole: akinesia of the basal anteroseptal segment. The pathology report of the surgical specimen described round and oval cells in an organoid pattern with fine chromatin nuclei and degenerative focal atypia ( Figure 12 ). These findings and the immunohistochemical studies were compatible with a paraganglioma. The genetic study showed a succinate dehydrogenase subunit B mutation. The patient progressed satisfactorily and was discharged. One month later, it was found that one of her father's cousins had a para-aortic pheochromocytoma, an incidental finding in the emergency department due to abdominal pain. Figure 12 Round and oval cells, arranged in an organoid pattern, with degenerative focal atypia."}
|
{'Case Presentation': "We present a case of cardiac paraganglioma with left coronary artery involvement. The patient was a 22-year-old woman with a clinical history of recurrent episodes of palpitations, diaphoresis, and headache. She was found to have high blood pressure and, because of her age, several studies were done looking for secondary hypertension. Results of transthoracic echocardiography and renal Doppler imaging were normal, and plasma and urine metanephrine levels were within normal limits. Ambulatory blood pressure monitoring found severe hypertension, and the patient started treatment with angiotensin receptor blockers. After 2 years, she continued to have the same symptoms, but at this time, a mesocardial systolic murmur with back irradiation was found on auscultation. New transthoracic echocardiography showed high velocities in the pulmonary artery and a mass with intermediate echogenicity located at the base of the heart in close relation to the aorta and the pulmonary artery, extending into the left atrioventricular groove ( Figure 1, Videos 1 and 2 ). Free metanephrines in plasma (noradrenaline 4,886.67 pg/mL) and urine (noradrenaline 1,426.9 μg/24 h) were high. Figure 1 Transthoracic echocardiography. Shown is a mass ( white arrow ) with intermediate echogenicity in relation to the great vessels. To obtain better characterization, cardiac magnetic resonance was performed and showed a middle mediastinal mass located in the left atrioventricular groove, extending posteriorly to the left atrial roof and almost surrounding the pulmonary artery anteriorly. The mass was closely associated with the aortic root, but the emergence and path of the left coronary artery and its branches were not adequately visualized ( Figure 2 ). Tissue characterization sequences showed a mass with a heterogeneous appearance on T2-weighted sequences and slightly hyperintense on T1-weighted and T2 with fat saturation sequences ( Figure 2 ). Important mass vascularization was demonstrated with the perfusion sequence, which showed rapid uptake of contrast shortly after its administration. We also found focal late gadolinium enhancement at the periphery of the mass, with no enhancement at its center, a finding that was considered highly suggestive of a paraganglioma ( Figure 3 ). Fluorine-18 fluorodeoxyglucose positron emission tomography was also performed, demonstrating a highly metabolic mass ( Figure 4 ). Figure 2 Cardiac magnetic resonance. (1) Coronal: isointense mass in relation to the left atrial roof. (2) Two-chamber longitudinal: isointense mass in the left atrioventricular groove. (3,4) Axial: mass in relation to the aortic root and the pulmonary artery. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 3 Cardiac magnetic resonance. Delayed enhancement. Focal deposit of gadolinium in the periphery of the mass. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 4 Positron emission tomography with 18F-fluorodeoxyglucose (10 mCi). Hypermetabolic mass in the middle mediastinum. Images reproduced with permission from Clínica del Country-Bogotá-Colombia. The case was discussed with the heart team and other departments, such as endocrinology and oncology, concluding that the patient had a clear indication for surgery, with α- and β-blockade, high sodium intake, and adequate hydration before the procedure. However, given that there were doubts regarding the emergence of the left coronary artery and its pathway, coronary angiotomography was performed. The mass was found to surround the left main coronary artery, the proximal segment of the left anterior descending coronary artery, the circumflex coronary artery, and two septal arteries, as well as the great cardiac vein ( Figure 5, Figure 6, Figure 7 ). At that time, and because of these findings, the intervention was considered to be a high-risk procedure. Isotopic radiation with 131 I meta-iodine benzyl guanidine (MIBG) was considered as a palliative intervention, but this approach was rejected because of the risk for hypertensive crises of unpredictable severity. Another approach that was considered was the use of octeotride, but this alternative was not accepted by the multidisciplinary group, because there was a risk for irradiation of adjacent tissue, including the coronary arteries, with an unknown benefit. The risk/benefit assessment of this therapy did not favor the patient either, and surgery was thought to be the only option. Coronary angiography was done looking for a main feeding artery that could be embolized preoperatively to reduce the tumor size and intraoperative blood loss. However, embolization could not be done, because there were many small feeding arteries coming from the left main coronary artery ( Figure 8 ). The patient underwent mass resection, requiring a complete transverse arteriotomy of the ascending aorta, pulmonary trunk, and section of the superior vena cava. The mass was exposed using caudal traction and was found to be closely associated with the posterior wall of the ascending aorta, the pulmonary artery, and the left atrial roof, without infiltration of these structures. Involvement of the left coronary artery trunk was documented, which required ligation and revascularization of the anterior descending coronary artery and the circumflex coronary artery. The mass could be completely resected ( Figure 9 ). Figure 5 Coronary computed tomography. Mass surrounding the left main coronary artery and the proximal segment of the anterior descending and the circumflex coronary arteries. Figure 6 Coronary computed tomography. Mass surrounding the pulmonary artery. Figure 7 Coronary computed tomography. Mass located in the left atrioventricular groove. Figure 8 Coronary arteriography. Mass irrigated by multiple small vessels arising from the anterior descending coronary artery. Figure 9 Surgical specimen. Resected mass. The patient progressed well and was able to be extubated and have her vasopressor support discontinued. Follow-up echocardiography showed that systolic function was moderately affected, with an ejection fraction of 35% and diffuse hypokinesia, which was more pronounced in the anterior descending coronary artery territory. Because of these findings, new coronary angiography was performed, ruling out saphenous bridge compromise ( Figure 10 ). Further follow-up echocardiography showed improvement in systolic function, with an ejection fraction of 55% and preserved contractility of all segments except the basal segment of the anterior septum, which continued to be akinetic. There was also moderate pericardial effusion without increased intrapericardial pressure ( Figure 11, Videos 3 and 4 ). Figure 10 Coronary angiography. Saphenous bridge patent to the anterior descending artery, without lesions. Figure 11 Transthoracic echocardiography. (1) Parasternal view in diastole: pericardial effusion. (2) Parasternal view in systole: akinesia of the basal anteroseptal segment. The pathology report of the surgical specimen described round and oval cells in an organoid pattern with fine chromatin nuclei and degenerative focal atypia ( Figure 12 ). These findings and the immunohistochemical studies were compatible with a paraganglioma. The genetic study showed a succinate dehydrogenase subunit B mutation. The patient progressed satisfactorily and was discharged. One month later, it was found that one of her father's cousins had a para-aortic pheochromocytoma, an incidental finding in the emergency department due to abdominal pain. Figure 12 Round and oval cells, arranged in an organoid pattern, with degenerative focal atypia."}
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Dermatology
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DERM
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[] |
6302035
|
{'Case Presentation': "We present a case of cardiac paraganglioma with left coronary artery involvement. The patient was a 22-year-old woman with a clinical history of recurrent episodes of palpitations, diaphoresis, and headache. She was found to have high blood pressure and, because of her age, several studies were done looking for secondary hypertension. Results of transthoracic echocardiography and renal Doppler imaging were normal, and plasma and urine metanephrine levels were within normal limits. Ambulatory blood pressure monitoring found severe hypertension, and the patient started treatment with angiotensin receptor blockers. After 2 years, she continued to have the same symptoms, but at this time, a mesocardial systolic murmur with back irradiation was found on auscultation. New transthoracic echocardiography showed high velocities in the pulmonary artery and a mass with intermediate echogenicity located at the base of the heart in close relation to the aorta and the pulmonary artery, extending into the left atrioventricular groove ( Figure 1, Videos 1 and 2 ). Free metanephrines in plasma (noradrenaline 4,886.67 pg/mL) and urine (noradrenaline 1,426.9 μg/24 h) were high. Figure 1 Transthoracic echocardiography. Shown is a mass ( white arrow ) with intermediate echogenicity in relation to the great vessels. To obtain better characterization, cardiac magnetic resonance was performed and showed a middle mediastinal mass located in the left atrioventricular groove, extending posteriorly to the left atrial roof and almost surrounding the pulmonary artery anteriorly. The mass was closely associated with the aortic root, but the emergence and path of the left coronary artery and its branches were not adequately visualized ( Figure 2 ). Tissue characterization sequences showed a mass with a heterogeneous appearance on T2-weighted sequences and slightly hyperintense on T1-weighted and T2 with fat saturation sequences ( Figure 2 ). Important mass vascularization was demonstrated with the perfusion sequence, which showed rapid uptake of contrast shortly after its administration. We also found focal late gadolinium enhancement at the periphery of the mass, with no enhancement at its center, a finding that was considered highly suggestive of a paraganglioma ( Figure 3 ). Fluorine-18 fluorodeoxyglucose positron emission tomography was also performed, demonstrating a highly metabolic mass ( Figure 4 ). Figure 2 Cardiac magnetic resonance. (1) Coronal: isointense mass in relation to the left atrial roof. (2) Two-chamber longitudinal: isointense mass in the left atrioventricular groove. (3,4) Axial: mass in relation to the aortic root and the pulmonary artery. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 3 Cardiac magnetic resonance. Delayed enhancement. Focal deposit of gadolinium in the periphery of the mass. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 4 Positron emission tomography with 18F-fluorodeoxyglucose (10 mCi). Hypermetabolic mass in the middle mediastinum. Images reproduced with permission from Clínica del Country-Bogotá-Colombia. The case was discussed with the heart team and other departments, such as endocrinology and oncology, concluding that the patient had a clear indication for surgery, with α- and β-blockade, high sodium intake, and adequate hydration before the procedure. However, given that there were doubts regarding the emergence of the left coronary artery and its pathway, coronary angiotomography was performed. The mass was found to surround the left main coronary artery, the proximal segment of the left anterior descending coronary artery, the circumflex coronary artery, and two septal arteries, as well as the great cardiac vein ( Figure 5, Figure 6, Figure 7 ). At that time, and because of these findings, the intervention was considered to be a high-risk procedure. Isotopic radiation with 131 I meta-iodine benzyl guanidine (MIBG) was considered as a palliative intervention, but this approach was rejected because of the risk for hypertensive crises of unpredictable severity. Another approach that was considered was the use of octeotride, but this alternative was not accepted by the multidisciplinary group, because there was a risk for irradiation of adjacent tissue, including the coronary arteries, with an unknown benefit. The risk/benefit assessment of this therapy did not favor the patient either, and surgery was thought to be the only option. Coronary angiography was done looking for a main feeding artery that could be embolized preoperatively to reduce the tumor size and intraoperative blood loss. However, embolization could not be done, because there were many small feeding arteries coming from the left main coronary artery ( Figure 8 ). The patient underwent mass resection, requiring a complete transverse arteriotomy of the ascending aorta, pulmonary trunk, and section of the superior vena cava. The mass was exposed using caudal traction and was found to be closely associated with the posterior wall of the ascending aorta, the pulmonary artery, and the left atrial roof, without infiltration of these structures. Involvement of the left coronary artery trunk was documented, which required ligation and revascularization of the anterior descending coronary artery and the circumflex coronary artery. The mass could be completely resected ( Figure 9 ). Figure 5 Coronary computed tomography. Mass surrounding the left main coronary artery and the proximal segment of the anterior descending and the circumflex coronary arteries. Figure 6 Coronary computed tomography. Mass surrounding the pulmonary artery. Figure 7 Coronary computed tomography. Mass located in the left atrioventricular groove. Figure 8 Coronary arteriography. Mass irrigated by multiple small vessels arising from the anterior descending coronary artery. Figure 9 Surgical specimen. Resected mass. The patient progressed well and was able to be extubated and have her vasopressor support discontinued. Follow-up echocardiography showed that systolic function was moderately affected, with an ejection fraction of 35% and diffuse hypokinesia, which was more pronounced in the anterior descending coronary artery territory. Because of these findings, new coronary angiography was performed, ruling out saphenous bridge compromise ( Figure 10 ). Further follow-up echocardiography showed improvement in systolic function, with an ejection fraction of 55% and preserved contractility of all segments except the basal segment of the anterior septum, which continued to be akinetic. There was also moderate pericardial effusion without increased intrapericardial pressure ( Figure 11, Videos 3 and 4 ). Figure 10 Coronary angiography. Saphenous bridge patent to the anterior descending artery, without lesions. Figure 11 Transthoracic echocardiography. (1) Parasternal view in diastole: pericardial effusion. (2) Parasternal view in systole: akinesia of the basal anteroseptal segment. The pathology report of the surgical specimen described round and oval cells in an organoid pattern with fine chromatin nuclei and degenerative focal atypia ( Figure 12 ). These findings and the immunohistochemical studies were compatible with a paraganglioma. The genetic study showed a succinate dehydrogenase subunit B mutation. The patient progressed satisfactorily and was discharged. One month later, it was found that one of her father's cousins had a para-aortic pheochromocytoma, an incidental finding in the emergency department due to abdominal pain. Figure 12 Round and oval cells, arranged in an organoid pattern, with degenerative focal atypia."}
|
{'Case Presentation': "We present a case of cardiac paraganglioma with left coronary artery involvement. The patient was a 22-year-old woman with a clinical history of recurrent episodes of palpitations, diaphoresis, and headache. She was found to have high blood pressure and, because of her age, several studies were done looking for secondary hypertension. Results of transthoracic echocardiography and renal Doppler imaging were normal, and plasma and urine metanephrine levels were within normal limits. Ambulatory blood pressure monitoring found severe hypertension, and the patient started treatment with angiotensin receptor blockers. After 2 years, she continued to have the same symptoms, but at this time, a mesocardial systolic murmur with back irradiation was found on auscultation. New transthoracic echocardiography showed high velocities in the pulmonary artery and a mass with intermediate echogenicity located at the base of the heart in close relation to the aorta and the pulmonary artery, extending into the left atrioventricular groove ( Figure 1, Videos 1 and 2 ). Free metanephrines in plasma (noradrenaline 4,886.67 pg/mL) and urine (noradrenaline 1,426.9 μg/24 h) were high. Figure 1 Transthoracic echocardiography. Shown is a mass ( white arrow ) with intermediate echogenicity in relation to the great vessels. To obtain better characterization, cardiac magnetic resonance was performed and showed a middle mediastinal mass located in the left atrioventricular groove, extending posteriorly to the left atrial roof and almost surrounding the pulmonary artery anteriorly. The mass was closely associated with the aortic root, but the emergence and path of the left coronary artery and its branches were not adequately visualized ( Figure 2 ). Tissue characterization sequences showed a mass with a heterogeneous appearance on T2-weighted sequences and slightly hyperintense on T1-weighted and T2 with fat saturation sequences ( Figure 2 ). Important mass vascularization was demonstrated with the perfusion sequence, which showed rapid uptake of contrast shortly after its administration. We also found focal late gadolinium enhancement at the periphery of the mass, with no enhancement at its center, a finding that was considered highly suggestive of a paraganglioma ( Figure 3 ). Fluorine-18 fluorodeoxyglucose positron emission tomography was also performed, demonstrating a highly metabolic mass ( Figure 4 ). Figure 2 Cardiac magnetic resonance. (1) Coronal: isointense mass in relation to the left atrial roof. (2) Two-chamber longitudinal: isointense mass in the left atrioventricular groove. (3,4) Axial: mass in relation to the aortic root and the pulmonary artery. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 3 Cardiac magnetic resonance. Delayed enhancement. Focal deposit of gadolinium in the periphery of the mass. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 4 Positron emission tomography with 18F-fluorodeoxyglucose (10 mCi). Hypermetabolic mass in the middle mediastinum. Images reproduced with permission from Clínica del Country-Bogotá-Colombia. The case was discussed with the heart team and other departments, such as endocrinology and oncology, concluding that the patient had a clear indication for surgery, with α- and β-blockade, high sodium intake, and adequate hydration before the procedure. However, given that there were doubts regarding the emergence of the left coronary artery and its pathway, coronary angiotomography was performed. The mass was found to surround the left main coronary artery, the proximal segment of the left anterior descending coronary artery, the circumflex coronary artery, and two septal arteries, as well as the great cardiac vein ( Figure 5, Figure 6, Figure 7 ). At that time, and because of these findings, the intervention was considered to be a high-risk procedure. Isotopic radiation with 131 I meta-iodine benzyl guanidine (MIBG) was considered as a palliative intervention, but this approach was rejected because of the risk for hypertensive crises of unpredictable severity. Another approach that was considered was the use of octeotride, but this alternative was not accepted by the multidisciplinary group, because there was a risk for irradiation of adjacent tissue, including the coronary arteries, with an unknown benefit. The risk/benefit assessment of this therapy did not favor the patient either, and surgery was thought to be the only option. Coronary angiography was done looking for a main feeding artery that could be embolized preoperatively to reduce the tumor size and intraoperative blood loss. However, embolization could not be done, because there were many small feeding arteries coming from the left main coronary artery ( Figure 8 ). The patient underwent mass resection, requiring a complete transverse arteriotomy of the ascending aorta, pulmonary trunk, and section of the superior vena cava. The mass was exposed using caudal traction and was found to be closely associated with the posterior wall of the ascending aorta, the pulmonary artery, and the left atrial roof, without infiltration of these structures. Involvement of the left coronary artery trunk was documented, which required ligation and revascularization of the anterior descending coronary artery and the circumflex coronary artery. The mass could be completely resected ( Figure 9 ). Figure 5 Coronary computed tomography. Mass surrounding the left main coronary artery and the proximal segment of the anterior descending and the circumflex coronary arteries. Figure 6 Coronary computed tomography. Mass surrounding the pulmonary artery. Figure 7 Coronary computed tomography. Mass located in the left atrioventricular groove. Figure 8 Coronary arteriography. Mass irrigated by multiple small vessels arising from the anterior descending coronary artery. Figure 9 Surgical specimen. Resected mass. The patient progressed well and was able to be extubated and have her vasopressor support discontinued. Follow-up echocardiography showed that systolic function was moderately affected, with an ejection fraction of 35% and diffuse hypokinesia, which was more pronounced in the anterior descending coronary artery territory. Because of these findings, new coronary angiography was performed, ruling out saphenous bridge compromise ( Figure 10 ). Further follow-up echocardiography showed improvement in systolic function, with an ejection fraction of 55% and preserved contractility of all segments except the basal segment of the anterior septum, which continued to be akinetic. There was also moderate pericardial effusion without increased intrapericardial pressure ( Figure 11, Videos 3 and 4 ). Figure 10 Coronary angiography. Saphenous bridge patent to the anterior descending artery, without lesions. Figure 11 Transthoracic echocardiography. (1) Parasternal view in diastole: pericardial effusion. (2) Parasternal view in systole: akinesia of the basal anteroseptal segment. The pathology report of the surgical specimen described round and oval cells in an organoid pattern with fine chromatin nuclei and degenerative focal atypia ( Figure 12 ). These findings and the immunohistochemical studies were compatible with a paraganglioma. The genetic study showed a succinate dehydrogenase subunit B mutation. The patient progressed satisfactorily and was discharged. One month later, it was found that one of her father's cousins had a para-aortic pheochromocytoma, an incidental finding in the emergency department due to abdominal pain. Figure 12 Round and oval cells, arranged in an organoid pattern, with degenerative focal atypia."}
|
Pregnancy
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Pregnancy
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[] |
6302035
|
{'Case Presentation': "We present a case of cardiac paraganglioma with left coronary artery involvement. The patient was a 22-year-old woman with a clinical history of recurrent episodes of palpitations, diaphoresis, and headache. She was found to have high blood pressure and, because of her age, several studies were done looking for secondary hypertension. Results of transthoracic echocardiography and renal Doppler imaging were normal, and plasma and urine metanephrine levels were within normal limits. Ambulatory blood pressure monitoring found severe hypertension, and the patient started treatment with angiotensin receptor blockers. After 2 years, she continued to have the same symptoms, but at this time, a mesocardial systolic murmur with back irradiation was found on auscultation. New transthoracic echocardiography showed high velocities in the pulmonary artery and a mass with intermediate echogenicity located at the base of the heart in close relation to the aorta and the pulmonary artery, extending into the left atrioventricular groove ( Figure 1, Videos 1 and 2 ). Free metanephrines in plasma (noradrenaline 4,886.67 pg/mL) and urine (noradrenaline 1,426.9 μg/24 h) were high. Figure 1 Transthoracic echocardiography. Shown is a mass ( white arrow ) with intermediate echogenicity in relation to the great vessels. To obtain better characterization, cardiac magnetic resonance was performed and showed a middle mediastinal mass located in the left atrioventricular groove, extending posteriorly to the left atrial roof and almost surrounding the pulmonary artery anteriorly. The mass was closely associated with the aortic root, but the emergence and path of the left coronary artery and its branches were not adequately visualized ( Figure 2 ). Tissue characterization sequences showed a mass with a heterogeneous appearance on T2-weighted sequences and slightly hyperintense on T1-weighted and T2 with fat saturation sequences ( Figure 2 ). Important mass vascularization was demonstrated with the perfusion sequence, which showed rapid uptake of contrast shortly after its administration. We also found focal late gadolinium enhancement at the periphery of the mass, with no enhancement at its center, a finding that was considered highly suggestive of a paraganglioma ( Figure 3 ). Fluorine-18 fluorodeoxyglucose positron emission tomography was also performed, demonstrating a highly metabolic mass ( Figure 4 ). Figure 2 Cardiac magnetic resonance. (1) Coronal: isointense mass in relation to the left atrial roof. (2) Two-chamber longitudinal: isointense mass in the left atrioventricular groove. (3,4) Axial: mass in relation to the aortic root and the pulmonary artery. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 3 Cardiac magnetic resonance. Delayed enhancement. Focal deposit of gadolinium in the periphery of the mass. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 4 Positron emission tomography with 18F-fluorodeoxyglucose (10 mCi). Hypermetabolic mass in the middle mediastinum. Images reproduced with permission from Clínica del Country-Bogotá-Colombia. The case was discussed with the heart team and other departments, such as endocrinology and oncology, concluding that the patient had a clear indication for surgery, with α- and β-blockade, high sodium intake, and adequate hydration before the procedure. However, given that there were doubts regarding the emergence of the left coronary artery and its pathway, coronary angiotomography was performed. The mass was found to surround the left main coronary artery, the proximal segment of the left anterior descending coronary artery, the circumflex coronary artery, and two septal arteries, as well as the great cardiac vein ( Figure 5, Figure 6, Figure 7 ). At that time, and because of these findings, the intervention was considered to be a high-risk procedure. Isotopic radiation with 131 I meta-iodine benzyl guanidine (MIBG) was considered as a palliative intervention, but this approach was rejected because of the risk for hypertensive crises of unpredictable severity. Another approach that was considered was the use of octeotride, but this alternative was not accepted by the multidisciplinary group, because there was a risk for irradiation of adjacent tissue, including the coronary arteries, with an unknown benefit. The risk/benefit assessment of this therapy did not favor the patient either, and surgery was thought to be the only option. Coronary angiography was done looking for a main feeding artery that could be embolized preoperatively to reduce the tumor size and intraoperative blood loss. However, embolization could not be done, because there were many small feeding arteries coming from the left main coronary artery ( Figure 8 ). The patient underwent mass resection, requiring a complete transverse arteriotomy of the ascending aorta, pulmonary trunk, and section of the superior vena cava. The mass was exposed using caudal traction and was found to be closely associated with the posterior wall of the ascending aorta, the pulmonary artery, and the left atrial roof, without infiltration of these structures. Involvement of the left coronary artery trunk was documented, which required ligation and revascularization of the anterior descending coronary artery and the circumflex coronary artery. The mass could be completely resected ( Figure 9 ). Figure 5 Coronary computed tomography. Mass surrounding the left main coronary artery and the proximal segment of the anterior descending and the circumflex coronary arteries. Figure 6 Coronary computed tomography. Mass surrounding the pulmonary artery. Figure 7 Coronary computed tomography. Mass located in the left atrioventricular groove. Figure 8 Coronary arteriography. Mass irrigated by multiple small vessels arising from the anterior descending coronary artery. Figure 9 Surgical specimen. Resected mass. The patient progressed well and was able to be extubated and have her vasopressor support discontinued. Follow-up echocardiography showed that systolic function was moderately affected, with an ejection fraction of 35% and diffuse hypokinesia, which was more pronounced in the anterior descending coronary artery territory. Because of these findings, new coronary angiography was performed, ruling out saphenous bridge compromise ( Figure 10 ). Further follow-up echocardiography showed improvement in systolic function, with an ejection fraction of 55% and preserved contractility of all segments except the basal segment of the anterior septum, which continued to be akinetic. There was also moderate pericardial effusion without increased intrapericardial pressure ( Figure 11, Videos 3 and 4 ). Figure 10 Coronary angiography. Saphenous bridge patent to the anterior descending artery, without lesions. Figure 11 Transthoracic echocardiography. (1) Parasternal view in diastole: pericardial effusion. (2) Parasternal view in systole: akinesia of the basal anteroseptal segment. The pathology report of the surgical specimen described round and oval cells in an organoid pattern with fine chromatin nuclei and degenerative focal atypia ( Figure 12 ). These findings and the immunohistochemical studies were compatible with a paraganglioma. The genetic study showed a succinate dehydrogenase subunit B mutation. The patient progressed satisfactorily and was discharged. One month later, it was found that one of her father's cousins had a para-aortic pheochromocytoma, an incidental finding in the emergency department due to abdominal pain. Figure 12 Round and oval cells, arranged in an organoid pattern, with degenerative focal atypia."}
|
{'Case Presentation': "We present a case of cardiac paraganglioma with left coronary artery involvement. The patient was a 22-year-old woman with a clinical history of recurrent episodes of palpitations, diaphoresis, and headache. She was found to have high blood pressure and, because of her age, several studies were done looking for secondary hypertension. Results of transthoracic echocardiography and renal Doppler imaging were normal, and plasma and urine metanephrine levels were within normal limits. Ambulatory blood pressure monitoring found severe hypertension, and the patient started treatment with angiotensin receptor blockers. After 2 years, she continued to have the same symptoms, but at this time, a mesocardial systolic murmur with back irradiation was found on auscultation. New transthoracic echocardiography showed high velocities in the pulmonary artery and a mass with intermediate echogenicity located at the base of the heart in close relation to the aorta and the pulmonary artery, extending into the left atrioventricular groove ( Figure 1, Videos 1 and 2 ). Free metanephrines in plasma (noradrenaline 4,886.67 pg/mL) and urine (noradrenaline 1,426.9 μg/24 h) were high. Figure 1 Transthoracic echocardiography. Shown is a mass ( white arrow ) with intermediate echogenicity in relation to the great vessels. To obtain better characterization, cardiac magnetic resonance was performed and showed a middle mediastinal mass located in the left atrioventricular groove, extending posteriorly to the left atrial roof and almost surrounding the pulmonary artery anteriorly. The mass was closely associated with the aortic root, but the emergence and path of the left coronary artery and its branches were not adequately visualized ( Figure 2 ). Tissue characterization sequences showed a mass with a heterogeneous appearance on T2-weighted sequences and slightly hyperintense on T1-weighted and T2 with fat saturation sequences ( Figure 2 ). Important mass vascularization was demonstrated with the perfusion sequence, which showed rapid uptake of contrast shortly after its administration. We also found focal late gadolinium enhancement at the periphery of the mass, with no enhancement at its center, a finding that was considered highly suggestive of a paraganglioma ( Figure 3 ). Fluorine-18 fluorodeoxyglucose positron emission tomography was also performed, demonstrating a highly metabolic mass ( Figure 4 ). Figure 2 Cardiac magnetic resonance. (1) Coronal: isointense mass in relation to the left atrial roof. (2) Two-chamber longitudinal: isointense mass in the left atrioventricular groove. (3,4) Axial: mass in relation to the aortic root and the pulmonary artery. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 3 Cardiac magnetic resonance. Delayed enhancement. Focal deposit of gadolinium in the periphery of the mass. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 4 Positron emission tomography with 18F-fluorodeoxyglucose (10 mCi). Hypermetabolic mass in the middle mediastinum. Images reproduced with permission from Clínica del Country-Bogotá-Colombia. The case was discussed with the heart team and other departments, such as endocrinology and oncology, concluding that the patient had a clear indication for surgery, with α- and β-blockade, high sodium intake, and adequate hydration before the procedure. However, given that there were doubts regarding the emergence of the left coronary artery and its pathway, coronary angiotomography was performed. The mass was found to surround the left main coronary artery, the proximal segment of the left anterior descending coronary artery, the circumflex coronary artery, and two septal arteries, as well as the great cardiac vein ( Figure 5, Figure 6, Figure 7 ). At that time, and because of these findings, the intervention was considered to be a high-risk procedure. Isotopic radiation with 131 I meta-iodine benzyl guanidine (MIBG) was considered as a palliative intervention, but this approach was rejected because of the risk for hypertensive crises of unpredictable severity. Another approach that was considered was the use of octeotride, but this alternative was not accepted by the multidisciplinary group, because there was a risk for irradiation of adjacent tissue, including the coronary arteries, with an unknown benefit. The risk/benefit assessment of this therapy did not favor the patient either, and surgery was thought to be the only option. Coronary angiography was done looking for a main feeding artery that could be embolized preoperatively to reduce the tumor size and intraoperative blood loss. However, embolization could not be done, because there were many small feeding arteries coming from the left main coronary artery ( Figure 8 ). The patient underwent mass resection, requiring a complete transverse arteriotomy of the ascending aorta, pulmonary trunk, and section of the superior vena cava. The mass was exposed using caudal traction and was found to be closely associated with the posterior wall of the ascending aorta, the pulmonary artery, and the left atrial roof, without infiltration of these structures. Involvement of the left coronary artery trunk was documented, which required ligation and revascularization of the anterior descending coronary artery and the circumflex coronary artery. The mass could be completely resected ( Figure 9 ). Figure 5 Coronary computed tomography. Mass surrounding the left main coronary artery and the proximal segment of the anterior descending and the circumflex coronary arteries. Figure 6 Coronary computed tomography. Mass surrounding the pulmonary artery. Figure 7 Coronary computed tomography. Mass located in the left atrioventricular groove. Figure 8 Coronary arteriography. Mass irrigated by multiple small vessels arising from the anterior descending coronary artery. Figure 9 Surgical specimen. Resected mass. The patient progressed well and was able to be extubated and have her vasopressor support discontinued. Follow-up echocardiography showed that systolic function was moderately affected, with an ejection fraction of 35% and diffuse hypokinesia, which was more pronounced in the anterior descending coronary artery territory. Because of these findings, new coronary angiography was performed, ruling out saphenous bridge compromise ( Figure 10 ). Further follow-up echocardiography showed improvement in systolic function, with an ejection fraction of 55% and preserved contractility of all segments except the basal segment of the anterior septum, which continued to be akinetic. There was also moderate pericardial effusion without increased intrapericardial pressure ( Figure 11, Videos 3 and 4 ). Figure 10 Coronary angiography. Saphenous bridge patent to the anterior descending artery, without lesions. Figure 11 Transthoracic echocardiography. (1) Parasternal view in diastole: pericardial effusion. (2) Parasternal view in systole: akinesia of the basal anteroseptal segment. The pathology report of the surgical specimen described round and oval cells in an organoid pattern with fine chromatin nuclei and degenerative focal atypia ( Figure 12 ). These findings and the immunohistochemical studies were compatible with a paraganglioma. The genetic study showed a succinate dehydrogenase subunit B mutation. The patient progressed satisfactorily and was discharged. One month later, it was found that one of her father's cousins had a para-aortic pheochromocytoma, an incidental finding in the emergency department due to abdominal pain. Figure 12 Round and oval cells, arranged in an organoid pattern, with degenerative focal atypia."}
|
Lymphatic-System
|
LYMPH
|
[] |
6302035
|
{'Case Presentation': "We present a case of cardiac paraganglioma with left coronary artery involvement. The patient was a 22-year-old woman with a clinical history of recurrent episodes of palpitations, diaphoresis, and headache. She was found to have high blood pressure and, because of her age, several studies were done looking for secondary hypertension. Results of transthoracic echocardiography and renal Doppler imaging were normal, and plasma and urine metanephrine levels were within normal limits. Ambulatory blood pressure monitoring found severe hypertension, and the patient started treatment with angiotensin receptor blockers. After 2 years, she continued to have the same symptoms, but at this time, a mesocardial systolic murmur with back irradiation was found on auscultation. New transthoracic echocardiography showed high velocities in the pulmonary artery and a mass with intermediate echogenicity located at the base of the heart in close relation to the aorta and the pulmonary artery, extending into the left atrioventricular groove ( Figure 1, Videos 1 and 2 ). Free metanephrines in plasma (noradrenaline 4,886.67 pg/mL) and urine (noradrenaline 1,426.9 μg/24 h) were high. Figure 1 Transthoracic echocardiography. Shown is a mass ( white arrow ) with intermediate echogenicity in relation to the great vessels. To obtain better characterization, cardiac magnetic resonance was performed and showed a middle mediastinal mass located in the left atrioventricular groove, extending posteriorly to the left atrial roof and almost surrounding the pulmonary artery anteriorly. The mass was closely associated with the aortic root, but the emergence and path of the left coronary artery and its branches were not adequately visualized ( Figure 2 ). Tissue characterization sequences showed a mass with a heterogeneous appearance on T2-weighted sequences and slightly hyperintense on T1-weighted and T2 with fat saturation sequences ( Figure 2 ). Important mass vascularization was demonstrated with the perfusion sequence, which showed rapid uptake of contrast shortly after its administration. We also found focal late gadolinium enhancement at the periphery of the mass, with no enhancement at its center, a finding that was considered highly suggestive of a paraganglioma ( Figure 3 ). Fluorine-18 fluorodeoxyglucose positron emission tomography was also performed, demonstrating a highly metabolic mass ( Figure 4 ). Figure 2 Cardiac magnetic resonance. (1) Coronal: isointense mass in relation to the left atrial roof. (2) Two-chamber longitudinal: isointense mass in the left atrioventricular groove. (3,4) Axial: mass in relation to the aortic root and the pulmonary artery. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 3 Cardiac magnetic resonance. Delayed enhancement. Focal deposit of gadolinium in the periphery of the mass. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 4 Positron emission tomography with 18F-fluorodeoxyglucose (10 mCi). Hypermetabolic mass in the middle mediastinum. Images reproduced with permission from Clínica del Country-Bogotá-Colombia. The case was discussed with the heart team and other departments, such as endocrinology and oncology, concluding that the patient had a clear indication for surgery, with α- and β-blockade, high sodium intake, and adequate hydration before the procedure. However, given that there were doubts regarding the emergence of the left coronary artery and its pathway, coronary angiotomography was performed. The mass was found to surround the left main coronary artery, the proximal segment of the left anterior descending coronary artery, the circumflex coronary artery, and two septal arteries, as well as the great cardiac vein ( Figure 5, Figure 6, Figure 7 ). At that time, and because of these findings, the intervention was considered to be a high-risk procedure. Isotopic radiation with 131 I meta-iodine benzyl guanidine (MIBG) was considered as a palliative intervention, but this approach was rejected because of the risk for hypertensive crises of unpredictable severity. Another approach that was considered was the use of octeotride, but this alternative was not accepted by the multidisciplinary group, because there was a risk for irradiation of adjacent tissue, including the coronary arteries, with an unknown benefit. The risk/benefit assessment of this therapy did not favor the patient either, and surgery was thought to be the only option. Coronary angiography was done looking for a main feeding artery that could be embolized preoperatively to reduce the tumor size and intraoperative blood loss. However, embolization could not be done, because there were many small feeding arteries coming from the left main coronary artery ( Figure 8 ). The patient underwent mass resection, requiring a complete transverse arteriotomy of the ascending aorta, pulmonary trunk, and section of the superior vena cava. The mass was exposed using caudal traction and was found to be closely associated with the posterior wall of the ascending aorta, the pulmonary artery, and the left atrial roof, without infiltration of these structures. Involvement of the left coronary artery trunk was documented, which required ligation and revascularization of the anterior descending coronary artery and the circumflex coronary artery. The mass could be completely resected ( Figure 9 ). Figure 5 Coronary computed tomography. Mass surrounding the left main coronary artery and the proximal segment of the anterior descending and the circumflex coronary arteries. Figure 6 Coronary computed tomography. Mass surrounding the pulmonary artery. Figure 7 Coronary computed tomography. Mass located in the left atrioventricular groove. Figure 8 Coronary arteriography. Mass irrigated by multiple small vessels arising from the anterior descending coronary artery. Figure 9 Surgical specimen. Resected mass. The patient progressed well and was able to be extubated and have her vasopressor support discontinued. Follow-up echocardiography showed that systolic function was moderately affected, with an ejection fraction of 35% and diffuse hypokinesia, which was more pronounced in the anterior descending coronary artery territory. Because of these findings, new coronary angiography was performed, ruling out saphenous bridge compromise ( Figure 10 ). Further follow-up echocardiography showed improvement in systolic function, with an ejection fraction of 55% and preserved contractility of all segments except the basal segment of the anterior septum, which continued to be akinetic. There was also moderate pericardial effusion without increased intrapericardial pressure ( Figure 11, Videos 3 and 4 ). Figure 10 Coronary angiography. Saphenous bridge patent to the anterior descending artery, without lesions. Figure 11 Transthoracic echocardiography. (1) Parasternal view in diastole: pericardial effusion. (2) Parasternal view in systole: akinesia of the basal anteroseptal segment. The pathology report of the surgical specimen described round and oval cells in an organoid pattern with fine chromatin nuclei and degenerative focal atypia ( Figure 12 ). These findings and the immunohistochemical studies were compatible with a paraganglioma. The genetic study showed a succinate dehydrogenase subunit B mutation. The patient progressed satisfactorily and was discharged. One month later, it was found that one of her father's cousins had a para-aortic pheochromocytoma, an incidental finding in the emergency department due to abdominal pain. Figure 12 Round and oval cells, arranged in an organoid pattern, with degenerative focal atypia."}
|
{'Case Presentation': "We present a case of cardiac paraganglioma with left coronary artery involvement. The patient was a 22-year-old woman with a clinical history of recurrent episodes of palpitations, diaphoresis, and headache. She was found to have high blood pressure and, because of her age, several studies were done looking for secondary hypertension. Results of transthoracic echocardiography and renal Doppler imaging were normal, and plasma and urine metanephrine levels were within normal limits. Ambulatory blood pressure monitoring found severe hypertension, and the patient started treatment with angiotensin receptor blockers. After 2 years, she continued to have the same symptoms, but at this time, a mesocardial systolic murmur with back irradiation was found on auscultation. New transthoracic echocardiography showed high velocities in the pulmonary artery and a mass with intermediate echogenicity located at the base of the heart in close relation to the aorta and the pulmonary artery, extending into the left atrioventricular groove ( Figure 1, Videos 1 and 2 ). Free metanephrines in plasma (noradrenaline 4,886.67 pg/mL) and urine (noradrenaline 1,426.9 μg/24 h) were high. Figure 1 Transthoracic echocardiography. Shown is a mass ( white arrow ) with intermediate echogenicity in relation to the great vessels. To obtain better characterization, cardiac magnetic resonance was performed and showed a middle mediastinal mass located in the left atrioventricular groove, extending posteriorly to the left atrial roof and almost surrounding the pulmonary artery anteriorly. The mass was closely associated with the aortic root, but the emergence and path of the left coronary artery and its branches were not adequately visualized ( Figure 2 ). Tissue characterization sequences showed a mass with a heterogeneous appearance on T2-weighted sequences and slightly hyperintense on T1-weighted and T2 with fat saturation sequences ( Figure 2 ). Important mass vascularization was demonstrated with the perfusion sequence, which showed rapid uptake of contrast shortly after its administration. We also found focal late gadolinium enhancement at the periphery of the mass, with no enhancement at its center, a finding that was considered highly suggestive of a paraganglioma ( Figure 3 ). Fluorine-18 fluorodeoxyglucose positron emission tomography was also performed, demonstrating a highly metabolic mass ( Figure 4 ). Figure 2 Cardiac magnetic resonance. (1) Coronal: isointense mass in relation to the left atrial roof. (2) Two-chamber longitudinal: isointense mass in the left atrioventricular groove. (3,4) Axial: mass in relation to the aortic root and the pulmonary artery. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 3 Cardiac magnetic resonance. Delayed enhancement. Focal deposit of gadolinium in the periphery of the mass. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 4 Positron emission tomography with 18F-fluorodeoxyglucose (10 mCi). Hypermetabolic mass in the middle mediastinum. Images reproduced with permission from Clínica del Country-Bogotá-Colombia. The case was discussed with the heart team and other departments, such as endocrinology and oncology, concluding that the patient had a clear indication for surgery, with α- and β-blockade, high sodium intake, and adequate hydration before the procedure. However, given that there were doubts regarding the emergence of the left coronary artery and its pathway, coronary angiotomography was performed. The mass was found to surround the left main coronary artery, the proximal segment of the left anterior descending coronary artery, the circumflex coronary artery, and two septal arteries, as well as the great cardiac vein ( Figure 5, Figure 6, Figure 7 ). At that time, and because of these findings, the intervention was considered to be a high-risk procedure. Isotopic radiation with 131 I meta-iodine benzyl guanidine (MIBG) was considered as a palliative intervention, but this approach was rejected because of the risk for hypertensive crises of unpredictable severity. Another approach that was considered was the use of octeotride, but this alternative was not accepted by the multidisciplinary group, because there was a risk for irradiation of adjacent tissue, including the coronary arteries, with an unknown benefit. The risk/benefit assessment of this therapy did not favor the patient either, and surgery was thought to be the only option. Coronary angiography was done looking for a main feeding artery that could be embolized preoperatively to reduce the tumor size and intraoperative blood loss. However, embolization could not be done, because there were many small feeding arteries coming from the left main coronary artery ( Figure 8 ). The patient underwent mass resection, requiring a complete transverse arteriotomy of the ascending aorta, pulmonary trunk, and section of the superior vena cava. The mass was exposed using caudal traction and was found to be closely associated with the posterior wall of the ascending aorta, the pulmonary artery, and the left atrial roof, without infiltration of these structures. Involvement of the left coronary artery trunk was documented, which required ligation and revascularization of the anterior descending coronary artery and the circumflex coronary artery. The mass could be completely resected ( Figure 9 ). Figure 5 Coronary computed tomography. Mass surrounding the left main coronary artery and the proximal segment of the anterior descending and the circumflex coronary arteries. Figure 6 Coronary computed tomography. Mass surrounding the pulmonary artery. Figure 7 Coronary computed tomography. Mass located in the left atrioventricular groove. Figure 8 Coronary arteriography. Mass irrigated by multiple small vessels arising from the anterior descending coronary artery. Figure 9 Surgical specimen. Resected mass. The patient progressed well and was able to be extubated and have her vasopressor support discontinued. Follow-up echocardiography showed that systolic function was moderately affected, with an ejection fraction of 35% and diffuse hypokinesia, which was more pronounced in the anterior descending coronary artery territory. Because of these findings, new coronary angiography was performed, ruling out saphenous bridge compromise ( Figure 10 ). Further follow-up echocardiography showed improvement in systolic function, with an ejection fraction of 55% and preserved contractility of all segments except the basal segment of the anterior septum, which continued to be akinetic. There was also moderate pericardial effusion without increased intrapericardial pressure ( Figure 11, Videos 3 and 4 ). Figure 10 Coronary angiography. Saphenous bridge patent to the anterior descending artery, without lesions. Figure 11 Transthoracic echocardiography. (1) Parasternal view in diastole: pericardial effusion. (2) Parasternal view in systole: akinesia of the basal anteroseptal segment. The pathology report of the surgical specimen described round and oval cells in an organoid pattern with fine chromatin nuclei and degenerative focal atypia ( Figure 12 ). These findings and the immunohistochemical studies were compatible with a paraganglioma. The genetic study showed a succinate dehydrogenase subunit B mutation. The patient progressed satisfactorily and was discharged. One month later, it was found that one of her father's cousins had a para-aortic pheochromocytoma, an incidental finding in the emergency department due to abdominal pain. Figure 12 Round and oval cells, arranged in an organoid pattern, with degenerative focal atypia."}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"22 - year - old"
] |
6302035
|
{'Case Presentation': "We present a case of cardiac paraganglioma with left coronary artery involvement. The patient was a 22-year-old woman with a clinical history of recurrent episodes of palpitations, diaphoresis, and headache. She was found to have high blood pressure and, because of her age, several studies were done looking for secondary hypertension. Results of transthoracic echocardiography and renal Doppler imaging were normal, and plasma and urine metanephrine levels were within normal limits. Ambulatory blood pressure monitoring found severe hypertension, and the patient started treatment with angiotensin receptor blockers. After 2 years, she continued to have the same symptoms, but at this time, a mesocardial systolic murmur with back irradiation was found on auscultation. New transthoracic echocardiography showed high velocities in the pulmonary artery and a mass with intermediate echogenicity located at the base of the heart in close relation to the aorta and the pulmonary artery, extending into the left atrioventricular groove ( Figure 1, Videos 1 and 2 ). Free metanephrines in plasma (noradrenaline 4,886.67 pg/mL) and urine (noradrenaline 1,426.9 μg/24 h) were high. Figure 1 Transthoracic echocardiography. Shown is a mass ( white arrow ) with intermediate echogenicity in relation to the great vessels. To obtain better characterization, cardiac magnetic resonance was performed and showed a middle mediastinal mass located in the left atrioventricular groove, extending posteriorly to the left atrial roof and almost surrounding the pulmonary artery anteriorly. The mass was closely associated with the aortic root, but the emergence and path of the left coronary artery and its branches were not adequately visualized ( Figure 2 ). Tissue characterization sequences showed a mass with a heterogeneous appearance on T2-weighted sequences and slightly hyperintense on T1-weighted and T2 with fat saturation sequences ( Figure 2 ). Important mass vascularization was demonstrated with the perfusion sequence, which showed rapid uptake of contrast shortly after its administration. We also found focal late gadolinium enhancement at the periphery of the mass, with no enhancement at its center, a finding that was considered highly suggestive of a paraganglioma ( Figure 3 ). Fluorine-18 fluorodeoxyglucose positron emission tomography was also performed, demonstrating a highly metabolic mass ( Figure 4 ). Figure 2 Cardiac magnetic resonance. (1) Coronal: isointense mass in relation to the left atrial roof. (2) Two-chamber longitudinal: isointense mass in the left atrioventricular groove. (3,4) Axial: mass in relation to the aortic root and the pulmonary artery. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 3 Cardiac magnetic resonance. Delayed enhancement. Focal deposit of gadolinium in the periphery of the mass. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 4 Positron emission tomography with 18F-fluorodeoxyglucose (10 mCi). Hypermetabolic mass in the middle mediastinum. Images reproduced with permission from Clínica del Country-Bogotá-Colombia. The case was discussed with the heart team and other departments, such as endocrinology and oncology, concluding that the patient had a clear indication for surgery, with α- and β-blockade, high sodium intake, and adequate hydration before the procedure. However, given that there were doubts regarding the emergence of the left coronary artery and its pathway, coronary angiotomography was performed. The mass was found to surround the left main coronary artery, the proximal segment of the left anterior descending coronary artery, the circumflex coronary artery, and two septal arteries, as well as the great cardiac vein ( Figure 5, Figure 6, Figure 7 ). At that time, and because of these findings, the intervention was considered to be a high-risk procedure. Isotopic radiation with 131 I meta-iodine benzyl guanidine (MIBG) was considered as a palliative intervention, but this approach was rejected because of the risk for hypertensive crises of unpredictable severity. Another approach that was considered was the use of octeotride, but this alternative was not accepted by the multidisciplinary group, because there was a risk for irradiation of adjacent tissue, including the coronary arteries, with an unknown benefit. The risk/benefit assessment of this therapy did not favor the patient either, and surgery was thought to be the only option. Coronary angiography was done looking for a main feeding artery that could be embolized preoperatively to reduce the tumor size and intraoperative blood loss. However, embolization could not be done, because there were many small feeding arteries coming from the left main coronary artery ( Figure 8 ). The patient underwent mass resection, requiring a complete transverse arteriotomy of the ascending aorta, pulmonary trunk, and section of the superior vena cava. The mass was exposed using caudal traction and was found to be closely associated with the posterior wall of the ascending aorta, the pulmonary artery, and the left atrial roof, without infiltration of these structures. Involvement of the left coronary artery trunk was documented, which required ligation and revascularization of the anterior descending coronary artery and the circumflex coronary artery. The mass could be completely resected ( Figure 9 ). Figure 5 Coronary computed tomography. Mass surrounding the left main coronary artery and the proximal segment of the anterior descending and the circumflex coronary arteries. Figure 6 Coronary computed tomography. Mass surrounding the pulmonary artery. Figure 7 Coronary computed tomography. Mass located in the left atrioventricular groove. Figure 8 Coronary arteriography. Mass irrigated by multiple small vessels arising from the anterior descending coronary artery. Figure 9 Surgical specimen. Resected mass. The patient progressed well and was able to be extubated and have her vasopressor support discontinued. Follow-up echocardiography showed that systolic function was moderately affected, with an ejection fraction of 35% and diffuse hypokinesia, which was more pronounced in the anterior descending coronary artery territory. Because of these findings, new coronary angiography was performed, ruling out saphenous bridge compromise ( Figure 10 ). Further follow-up echocardiography showed improvement in systolic function, with an ejection fraction of 55% and preserved contractility of all segments except the basal segment of the anterior septum, which continued to be akinetic. There was also moderate pericardial effusion without increased intrapericardial pressure ( Figure 11, Videos 3 and 4 ). Figure 10 Coronary angiography. Saphenous bridge patent to the anterior descending artery, without lesions. Figure 11 Transthoracic echocardiography. (1) Parasternal view in diastole: pericardial effusion. (2) Parasternal view in systole: akinesia of the basal anteroseptal segment. The pathology report of the surgical specimen described round and oval cells in an organoid pattern with fine chromatin nuclei and degenerative focal atypia ( Figure 12 ). These findings and the immunohistochemical studies were compatible with a paraganglioma. The genetic study showed a succinate dehydrogenase subunit B mutation. The patient progressed satisfactorily and was discharged. One month later, it was found that one of her father's cousins had a para-aortic pheochromocytoma, an incidental finding in the emergency department due to abdominal pain. Figure 12 Round and oval cells, arranged in an organoid pattern, with degenerative focal atypia."}
|
{'Case Presentation': "We present a case of cardiac paraganglioma with left coronary artery involvement. The patient was a 22-year-old woman with a clinical history of recurrent episodes of palpitations, diaphoresis, and headache. She was found to have high blood pressure and, because of her age, several studies were done looking for secondary hypertension. Results of transthoracic echocardiography and renal Doppler imaging were normal, and plasma and urine metanephrine levels were within normal limits. Ambulatory blood pressure monitoring found severe hypertension, and the patient started treatment with angiotensin receptor blockers. After 2 years, she continued to have the same symptoms, but at this time, a mesocardial systolic murmur with back irradiation was found on auscultation. New transthoracic echocardiography showed high velocities in the pulmonary artery and a mass with intermediate echogenicity located at the base of the heart in close relation to the aorta and the pulmonary artery, extending into the left atrioventricular groove ( Figure 1, Videos 1 and 2 ). Free metanephrines in plasma (noradrenaline 4,886.67 pg/mL) and urine (noradrenaline 1,426.9 μg/24 h) were high. Figure 1 Transthoracic echocardiography. Shown is a mass ( white arrow ) with intermediate echogenicity in relation to the great vessels. To obtain better characterization, cardiac magnetic resonance was performed and showed a middle mediastinal mass located in the left atrioventricular groove, extending posteriorly to the left atrial roof and almost surrounding the pulmonary artery anteriorly. The mass was closely associated with the aortic root, but the emergence and path of the left coronary artery and its branches were not adequately visualized ( Figure 2 ). Tissue characterization sequences showed a mass with a heterogeneous appearance on T2-weighted sequences and slightly hyperintense on T1-weighted and T2 with fat saturation sequences ( Figure 2 ). Important mass vascularization was demonstrated with the perfusion sequence, which showed rapid uptake of contrast shortly after its administration. We also found focal late gadolinium enhancement at the periphery of the mass, with no enhancement at its center, a finding that was considered highly suggestive of a paraganglioma ( Figure 3 ). Fluorine-18 fluorodeoxyglucose positron emission tomography was also performed, demonstrating a highly metabolic mass ( Figure 4 ). Figure 2 Cardiac magnetic resonance. (1) Coronal: isointense mass in relation to the left atrial roof. (2) Two-chamber longitudinal: isointense mass in the left atrioventricular groove. (3,4) Axial: mass in relation to the aortic root and the pulmonary artery. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 3 Cardiac magnetic resonance. Delayed enhancement. Focal deposit of gadolinium in the periphery of the mass. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 4 Positron emission tomography with 18F-fluorodeoxyglucose (10 mCi). Hypermetabolic mass in the middle mediastinum. Images reproduced with permission from Clínica del Country-Bogotá-Colombia. The case was discussed with the heart team and other departments, such as endocrinology and oncology, concluding that the patient had a clear indication for surgery, with α- and β-blockade, high sodium intake, and adequate hydration before the procedure. However, given that there were doubts regarding the emergence of the left coronary artery and its pathway, coronary angiotomography was performed. The mass was found to surround the left main coronary artery, the proximal segment of the left anterior descending coronary artery, the circumflex coronary artery, and two septal arteries, as well as the great cardiac vein ( Figure 5, Figure 6, Figure 7 ). At that time, and because of these findings, the intervention was considered to be a high-risk procedure. Isotopic radiation with 131 I meta-iodine benzyl guanidine (MIBG) was considered as a palliative intervention, but this approach was rejected because of the risk for hypertensive crises of unpredictable severity. Another approach that was considered was the use of octeotride, but this alternative was not accepted by the multidisciplinary group, because there was a risk for irradiation of adjacent tissue, including the coronary arteries, with an unknown benefit. The risk/benefit assessment of this therapy did not favor the patient either, and surgery was thought to be the only option. Coronary angiography was done looking for a main feeding artery that could be embolized preoperatively to reduce the tumor size and intraoperative blood loss. However, embolization could not be done, because there were many small feeding arteries coming from the left main coronary artery ( Figure 8 ). The patient underwent mass resection, requiring a complete transverse arteriotomy of the ascending aorta, pulmonary trunk, and section of the superior vena cava. The mass was exposed using caudal traction and was found to be closely associated with the posterior wall of the ascending aorta, the pulmonary artery, and the left atrial roof, without infiltration of these structures. Involvement of the left coronary artery trunk was documented, which required ligation and revascularization of the anterior descending coronary artery and the circumflex coronary artery. The mass could be completely resected ( Figure 9 ). Figure 5 Coronary computed tomography. Mass surrounding the left main coronary artery and the proximal segment of the anterior descending and the circumflex coronary arteries. Figure 6 Coronary computed tomography. Mass surrounding the pulmonary artery. Figure 7 Coronary computed tomography. Mass located in the left atrioventricular groove. Figure 8 Coronary arteriography. Mass irrigated by multiple small vessels arising from the anterior descending coronary artery. Figure 9 Surgical specimen. Resected mass. The patient progressed well and was able to be extubated and have her vasopressor support discontinued. Follow-up echocardiography showed that systolic function was moderately affected, with an ejection fraction of 35% and diffuse hypokinesia, which was more pronounced in the anterior descending coronary artery territory. Because of these findings, new coronary angiography was performed, ruling out saphenous bridge compromise ( Figure 10 ). Further follow-up echocardiography showed improvement in systolic function, with an ejection fraction of 55% and preserved contractility of all segments except the basal segment of the anterior septum, which continued to be akinetic. There was also moderate pericardial effusion without increased intrapericardial pressure ( Figure 11, Videos 3 and 4 ). Figure 10 Coronary angiography. Saphenous bridge patent to the anterior descending artery, without lesions. Figure 11 Transthoracic echocardiography. (1) Parasternal view in diastole: pericardial effusion. (2) Parasternal view in systole: akinesia of the basal anteroseptal segment. The pathology report of the surgical specimen described round and oval cells in an organoid pattern with fine chromatin nuclei and degenerative focal atypia ( Figure 12 ). These findings and the immunohistochemical studies were compatible with a paraganglioma. The genetic study showed a succinate dehydrogenase subunit B mutation. The patient progressed satisfactorily and was discharged. One month later, it was found that one of her father's cousins had a para-aortic pheochromocytoma, an incidental finding in the emergency department due to abdominal pain. Figure 12 Round and oval cells, arranged in an organoid pattern, with degenerative focal atypia."}
|
Age-of-Onset
|
Age (of onset)
|
[] |
6302035
|
{'Case Presentation': "We present a case of cardiac paraganglioma with left coronary artery involvement. The patient was a 22-year-old woman with a clinical history of recurrent episodes of palpitations, diaphoresis, and headache. She was found to have high blood pressure and, because of her age, several studies were done looking for secondary hypertension. Results of transthoracic echocardiography and renal Doppler imaging were normal, and plasma and urine metanephrine levels were within normal limits. Ambulatory blood pressure monitoring found severe hypertension, and the patient started treatment with angiotensin receptor blockers. After 2 years, she continued to have the same symptoms, but at this time, a mesocardial systolic murmur with back irradiation was found on auscultation. New transthoracic echocardiography showed high velocities in the pulmonary artery and a mass with intermediate echogenicity located at the base of the heart in close relation to the aorta and the pulmonary artery, extending into the left atrioventricular groove ( Figure 1, Videos 1 and 2 ). Free metanephrines in plasma (noradrenaline 4,886.67 pg/mL) and urine (noradrenaline 1,426.9 μg/24 h) were high. Figure 1 Transthoracic echocardiography. Shown is a mass ( white arrow ) with intermediate echogenicity in relation to the great vessels. To obtain better characterization, cardiac magnetic resonance was performed and showed a middle mediastinal mass located in the left atrioventricular groove, extending posteriorly to the left atrial roof and almost surrounding the pulmonary artery anteriorly. The mass was closely associated with the aortic root, but the emergence and path of the left coronary artery and its branches were not adequately visualized ( Figure 2 ). Tissue characterization sequences showed a mass with a heterogeneous appearance on T2-weighted sequences and slightly hyperintense on T1-weighted and T2 with fat saturation sequences ( Figure 2 ). Important mass vascularization was demonstrated with the perfusion sequence, which showed rapid uptake of contrast shortly after its administration. We also found focal late gadolinium enhancement at the periphery of the mass, with no enhancement at its center, a finding that was considered highly suggestive of a paraganglioma ( Figure 3 ). Fluorine-18 fluorodeoxyglucose positron emission tomography was also performed, demonstrating a highly metabolic mass ( Figure 4 ). Figure 2 Cardiac magnetic resonance. (1) Coronal: isointense mass in relation to the left atrial roof. (2) Two-chamber longitudinal: isointense mass in the left atrioventricular groove. (3,4) Axial: mass in relation to the aortic root and the pulmonary artery. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 3 Cardiac magnetic resonance. Delayed enhancement. Focal deposit of gadolinium in the periphery of the mass. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 4 Positron emission tomography with 18F-fluorodeoxyglucose (10 mCi). Hypermetabolic mass in the middle mediastinum. Images reproduced with permission from Clínica del Country-Bogotá-Colombia. The case was discussed with the heart team and other departments, such as endocrinology and oncology, concluding that the patient had a clear indication for surgery, with α- and β-blockade, high sodium intake, and adequate hydration before the procedure. However, given that there were doubts regarding the emergence of the left coronary artery and its pathway, coronary angiotomography was performed. The mass was found to surround the left main coronary artery, the proximal segment of the left anterior descending coronary artery, the circumflex coronary artery, and two septal arteries, as well as the great cardiac vein ( Figure 5, Figure 6, Figure 7 ). At that time, and because of these findings, the intervention was considered to be a high-risk procedure. Isotopic radiation with 131 I meta-iodine benzyl guanidine (MIBG) was considered as a palliative intervention, but this approach was rejected because of the risk for hypertensive crises of unpredictable severity. Another approach that was considered was the use of octeotride, but this alternative was not accepted by the multidisciplinary group, because there was a risk for irradiation of adjacent tissue, including the coronary arteries, with an unknown benefit. The risk/benefit assessment of this therapy did not favor the patient either, and surgery was thought to be the only option. Coronary angiography was done looking for a main feeding artery that could be embolized preoperatively to reduce the tumor size and intraoperative blood loss. However, embolization could not be done, because there were many small feeding arteries coming from the left main coronary artery ( Figure 8 ). The patient underwent mass resection, requiring a complete transverse arteriotomy of the ascending aorta, pulmonary trunk, and section of the superior vena cava. The mass was exposed using caudal traction and was found to be closely associated with the posterior wall of the ascending aorta, the pulmonary artery, and the left atrial roof, without infiltration of these structures. Involvement of the left coronary artery trunk was documented, which required ligation and revascularization of the anterior descending coronary artery and the circumflex coronary artery. The mass could be completely resected ( Figure 9 ). Figure 5 Coronary computed tomography. Mass surrounding the left main coronary artery and the proximal segment of the anterior descending and the circumflex coronary arteries. Figure 6 Coronary computed tomography. Mass surrounding the pulmonary artery. Figure 7 Coronary computed tomography. Mass located in the left atrioventricular groove. Figure 8 Coronary arteriography. Mass irrigated by multiple small vessels arising from the anterior descending coronary artery. Figure 9 Surgical specimen. Resected mass. The patient progressed well and was able to be extubated and have her vasopressor support discontinued. Follow-up echocardiography showed that systolic function was moderately affected, with an ejection fraction of 35% and diffuse hypokinesia, which was more pronounced in the anterior descending coronary artery territory. Because of these findings, new coronary angiography was performed, ruling out saphenous bridge compromise ( Figure 10 ). Further follow-up echocardiography showed improvement in systolic function, with an ejection fraction of 55% and preserved contractility of all segments except the basal segment of the anterior septum, which continued to be akinetic. There was also moderate pericardial effusion without increased intrapericardial pressure ( Figure 11, Videos 3 and 4 ). Figure 10 Coronary angiography. Saphenous bridge patent to the anterior descending artery, without lesions. Figure 11 Transthoracic echocardiography. (1) Parasternal view in diastole: pericardial effusion. (2) Parasternal view in systole: akinesia of the basal anteroseptal segment. The pathology report of the surgical specimen described round and oval cells in an organoid pattern with fine chromatin nuclei and degenerative focal atypia ( Figure 12 ). These findings and the immunohistochemical studies were compatible with a paraganglioma. The genetic study showed a succinate dehydrogenase subunit B mutation. The patient progressed satisfactorily and was discharged. One month later, it was found that one of her father's cousins had a para-aortic pheochromocytoma, an incidental finding in the emergency department due to abdominal pain. Figure 12 Round and oval cells, arranged in an organoid pattern, with degenerative focal atypia."}
|
{'Case Presentation': "We present a case of cardiac paraganglioma with left coronary artery involvement. The patient was a 22-year-old woman with a clinical history of recurrent episodes of palpitations, diaphoresis, and headache. She was found to have high blood pressure and, because of her age, several studies were done looking for secondary hypertension. Results of transthoracic echocardiography and renal Doppler imaging were normal, and plasma and urine metanephrine levels were within normal limits. Ambulatory blood pressure monitoring found severe hypertension, and the patient started treatment with angiotensin receptor blockers. After 2 years, she continued to have the same symptoms, but at this time, a mesocardial systolic murmur with back irradiation was found on auscultation. New transthoracic echocardiography showed high velocities in the pulmonary artery and a mass with intermediate echogenicity located at the base of the heart in close relation to the aorta and the pulmonary artery, extending into the left atrioventricular groove ( Figure 1, Videos 1 and 2 ). Free metanephrines in plasma (noradrenaline 4,886.67 pg/mL) and urine (noradrenaline 1,426.9 μg/24 h) were high. Figure 1 Transthoracic echocardiography. Shown is a mass ( white arrow ) with intermediate echogenicity in relation to the great vessels. To obtain better characterization, cardiac magnetic resonance was performed and showed a middle mediastinal mass located in the left atrioventricular groove, extending posteriorly to the left atrial roof and almost surrounding the pulmonary artery anteriorly. The mass was closely associated with the aortic root, but the emergence and path of the left coronary artery and its branches were not adequately visualized ( Figure 2 ). Tissue characterization sequences showed a mass with a heterogeneous appearance on T2-weighted sequences and slightly hyperintense on T1-weighted and T2 with fat saturation sequences ( Figure 2 ). Important mass vascularization was demonstrated with the perfusion sequence, which showed rapid uptake of contrast shortly after its administration. We also found focal late gadolinium enhancement at the periphery of the mass, with no enhancement at its center, a finding that was considered highly suggestive of a paraganglioma ( Figure 3 ). Fluorine-18 fluorodeoxyglucose positron emission tomography was also performed, demonstrating a highly metabolic mass ( Figure 4 ). Figure 2 Cardiac magnetic resonance. (1) Coronal: isointense mass in relation to the left atrial roof. (2) Two-chamber longitudinal: isointense mass in the left atrioventricular groove. (3,4) Axial: mass in relation to the aortic root and the pulmonary artery. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 3 Cardiac magnetic resonance. Delayed enhancement. Focal deposit of gadolinium in the periphery of the mass. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 4 Positron emission tomography with 18F-fluorodeoxyglucose (10 mCi). Hypermetabolic mass in the middle mediastinum. Images reproduced with permission from Clínica del Country-Bogotá-Colombia. The case was discussed with the heart team and other departments, such as endocrinology and oncology, concluding that the patient had a clear indication for surgery, with α- and β-blockade, high sodium intake, and adequate hydration before the procedure. However, given that there were doubts regarding the emergence of the left coronary artery and its pathway, coronary angiotomography was performed. The mass was found to surround the left main coronary artery, the proximal segment of the left anterior descending coronary artery, the circumflex coronary artery, and two septal arteries, as well as the great cardiac vein ( Figure 5, Figure 6, Figure 7 ). At that time, and because of these findings, the intervention was considered to be a high-risk procedure. Isotopic radiation with 131 I meta-iodine benzyl guanidine (MIBG) was considered as a palliative intervention, but this approach was rejected because of the risk for hypertensive crises of unpredictable severity. Another approach that was considered was the use of octeotride, but this alternative was not accepted by the multidisciplinary group, because there was a risk for irradiation of adjacent tissue, including the coronary arteries, with an unknown benefit. The risk/benefit assessment of this therapy did not favor the patient either, and surgery was thought to be the only option. Coronary angiography was done looking for a main feeding artery that could be embolized preoperatively to reduce the tumor size and intraoperative blood loss. However, embolization could not be done, because there were many small feeding arteries coming from the left main coronary artery ( Figure 8 ). The patient underwent mass resection, requiring a complete transverse arteriotomy of the ascending aorta, pulmonary trunk, and section of the superior vena cava. The mass was exposed using caudal traction and was found to be closely associated with the posterior wall of the ascending aorta, the pulmonary artery, and the left atrial roof, without infiltration of these structures. Involvement of the left coronary artery trunk was documented, which required ligation and revascularization of the anterior descending coronary artery and the circumflex coronary artery. The mass could be completely resected ( Figure 9 ). Figure 5 Coronary computed tomography. Mass surrounding the left main coronary artery and the proximal segment of the anterior descending and the circumflex coronary arteries. Figure 6 Coronary computed tomography. Mass surrounding the pulmonary artery. Figure 7 Coronary computed tomography. Mass located in the left atrioventricular groove. Figure 8 Coronary arteriography. Mass irrigated by multiple small vessels arising from the anterior descending coronary artery. Figure 9 Surgical specimen. Resected mass. The patient progressed well and was able to be extubated and have her vasopressor support discontinued. Follow-up echocardiography showed that systolic function was moderately affected, with an ejection fraction of 35% and diffuse hypokinesia, which was more pronounced in the anterior descending coronary artery territory. Because of these findings, new coronary angiography was performed, ruling out saphenous bridge compromise ( Figure 10 ). Further follow-up echocardiography showed improvement in systolic function, with an ejection fraction of 55% and preserved contractility of all segments except the basal segment of the anterior septum, which continued to be akinetic. There was also moderate pericardial effusion without increased intrapericardial pressure ( Figure 11, Videos 3 and 4 ). Figure 10 Coronary angiography. Saphenous bridge patent to the anterior descending artery, without lesions. Figure 11 Transthoracic echocardiography. (1) Parasternal view in diastole: pericardial effusion. (2) Parasternal view in systole: akinesia of the basal anteroseptal segment. The pathology report of the surgical specimen described round and oval cells in an organoid pattern with fine chromatin nuclei and degenerative focal atypia ( Figure 12 ). These findings and the immunohistochemical studies were compatible with a paraganglioma. The genetic study showed a succinate dehydrogenase subunit B mutation. The patient progressed satisfactorily and was discharged. One month later, it was found that one of her father's cousins had a para-aortic pheochromocytoma, an incidental finding in the emergency department due to abdominal pain. Figure 12 Round and oval cells, arranged in an organoid pattern, with degenerative focal atypia."}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"The genetic study showed a succinate dehydrogenase subunit B mutation ."
] |
6302035
|
{'Case Presentation': "We present a case of cardiac paraganglioma with left coronary artery involvement. The patient was a 22-year-old woman with a clinical history of recurrent episodes of palpitations, diaphoresis, and headache. She was found to have high blood pressure and, because of her age, several studies were done looking for secondary hypertension. Results of transthoracic echocardiography and renal Doppler imaging were normal, and plasma and urine metanephrine levels were within normal limits. Ambulatory blood pressure monitoring found severe hypertension, and the patient started treatment with angiotensin receptor blockers. After 2 years, she continued to have the same symptoms, but at this time, a mesocardial systolic murmur with back irradiation was found on auscultation. New transthoracic echocardiography showed high velocities in the pulmonary artery and a mass with intermediate echogenicity located at the base of the heart in close relation to the aorta and the pulmonary artery, extending into the left atrioventricular groove ( Figure 1, Videos 1 and 2 ). Free metanephrines in plasma (noradrenaline 4,886.67 pg/mL) and urine (noradrenaline 1,426.9 μg/24 h) were high. Figure 1 Transthoracic echocardiography. Shown is a mass ( white arrow ) with intermediate echogenicity in relation to the great vessels. To obtain better characterization, cardiac magnetic resonance was performed and showed a middle mediastinal mass located in the left atrioventricular groove, extending posteriorly to the left atrial roof and almost surrounding the pulmonary artery anteriorly. The mass was closely associated with the aortic root, but the emergence and path of the left coronary artery and its branches were not adequately visualized ( Figure 2 ). Tissue characterization sequences showed a mass with a heterogeneous appearance on T2-weighted sequences and slightly hyperintense on T1-weighted and T2 with fat saturation sequences ( Figure 2 ). Important mass vascularization was demonstrated with the perfusion sequence, which showed rapid uptake of contrast shortly after its administration. We also found focal late gadolinium enhancement at the periphery of the mass, with no enhancement at its center, a finding that was considered highly suggestive of a paraganglioma ( Figure 3 ). Fluorine-18 fluorodeoxyglucose positron emission tomography was also performed, demonstrating a highly metabolic mass ( Figure 4 ). Figure 2 Cardiac magnetic resonance. (1) Coronal: isointense mass in relation to the left atrial roof. (2) Two-chamber longitudinal: isointense mass in the left atrioventricular groove. (3,4) Axial: mass in relation to the aortic root and the pulmonary artery. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 3 Cardiac magnetic resonance. Delayed enhancement. Focal deposit of gadolinium in the periphery of the mass. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 4 Positron emission tomography with 18F-fluorodeoxyglucose (10 mCi). Hypermetabolic mass in the middle mediastinum. Images reproduced with permission from Clínica del Country-Bogotá-Colombia. The case was discussed with the heart team and other departments, such as endocrinology and oncology, concluding that the patient had a clear indication for surgery, with α- and β-blockade, high sodium intake, and adequate hydration before the procedure. However, given that there were doubts regarding the emergence of the left coronary artery and its pathway, coronary angiotomography was performed. The mass was found to surround the left main coronary artery, the proximal segment of the left anterior descending coronary artery, the circumflex coronary artery, and two septal arteries, as well as the great cardiac vein ( Figure 5, Figure 6, Figure 7 ). At that time, and because of these findings, the intervention was considered to be a high-risk procedure. Isotopic radiation with 131 I meta-iodine benzyl guanidine (MIBG) was considered as a palliative intervention, but this approach was rejected because of the risk for hypertensive crises of unpredictable severity. Another approach that was considered was the use of octeotride, but this alternative was not accepted by the multidisciplinary group, because there was a risk for irradiation of adjacent tissue, including the coronary arteries, with an unknown benefit. The risk/benefit assessment of this therapy did not favor the patient either, and surgery was thought to be the only option. Coronary angiography was done looking for a main feeding artery that could be embolized preoperatively to reduce the tumor size and intraoperative blood loss. However, embolization could not be done, because there were many small feeding arteries coming from the left main coronary artery ( Figure 8 ). The patient underwent mass resection, requiring a complete transverse arteriotomy of the ascending aorta, pulmonary trunk, and section of the superior vena cava. The mass was exposed using caudal traction and was found to be closely associated with the posterior wall of the ascending aorta, the pulmonary artery, and the left atrial roof, without infiltration of these structures. Involvement of the left coronary artery trunk was documented, which required ligation and revascularization of the anterior descending coronary artery and the circumflex coronary artery. The mass could be completely resected ( Figure 9 ). Figure 5 Coronary computed tomography. Mass surrounding the left main coronary artery and the proximal segment of the anterior descending and the circumflex coronary arteries. Figure 6 Coronary computed tomography. Mass surrounding the pulmonary artery. Figure 7 Coronary computed tomography. Mass located in the left atrioventricular groove. Figure 8 Coronary arteriography. Mass irrigated by multiple small vessels arising from the anterior descending coronary artery. Figure 9 Surgical specimen. Resected mass. The patient progressed well and was able to be extubated and have her vasopressor support discontinued. Follow-up echocardiography showed that systolic function was moderately affected, with an ejection fraction of 35% and diffuse hypokinesia, which was more pronounced in the anterior descending coronary artery territory. Because of these findings, new coronary angiography was performed, ruling out saphenous bridge compromise ( Figure 10 ). Further follow-up echocardiography showed improvement in systolic function, with an ejection fraction of 55% and preserved contractility of all segments except the basal segment of the anterior septum, which continued to be akinetic. There was also moderate pericardial effusion without increased intrapericardial pressure ( Figure 11, Videos 3 and 4 ). Figure 10 Coronary angiography. Saphenous bridge patent to the anterior descending artery, without lesions. Figure 11 Transthoracic echocardiography. (1) Parasternal view in diastole: pericardial effusion. (2) Parasternal view in systole: akinesia of the basal anteroseptal segment. The pathology report of the surgical specimen described round and oval cells in an organoid pattern with fine chromatin nuclei and degenerative focal atypia ( Figure 12 ). These findings and the immunohistochemical studies were compatible with a paraganglioma. The genetic study showed a succinate dehydrogenase subunit B mutation. The patient progressed satisfactorily and was discharged. One month later, it was found that one of her father's cousins had a para-aortic pheochromocytoma, an incidental finding in the emergency department due to abdominal pain. Figure 12 Round and oval cells, arranged in an organoid pattern, with degenerative focal atypia."}
|
{'Case Presentation': "We present a case of cardiac paraganglioma with left coronary artery involvement. The patient was a 22-year-old woman with a clinical history of recurrent episodes of palpitations, diaphoresis, and headache. She was found to have high blood pressure and, because of her age, several studies were done looking for secondary hypertension. Results of transthoracic echocardiography and renal Doppler imaging were normal, and plasma and urine metanephrine levels were within normal limits. Ambulatory blood pressure monitoring found severe hypertension, and the patient started treatment with angiotensin receptor blockers. After 2 years, she continued to have the same symptoms, but at this time, a mesocardial systolic murmur with back irradiation was found on auscultation. New transthoracic echocardiography showed high velocities in the pulmonary artery and a mass with intermediate echogenicity located at the base of the heart in close relation to the aorta and the pulmonary artery, extending into the left atrioventricular groove ( Figure 1, Videos 1 and 2 ). Free metanephrines in plasma (noradrenaline 4,886.67 pg/mL) and urine (noradrenaline 1,426.9 μg/24 h) were high. Figure 1 Transthoracic echocardiography. Shown is a mass ( white arrow ) with intermediate echogenicity in relation to the great vessels. To obtain better characterization, cardiac magnetic resonance was performed and showed a middle mediastinal mass located in the left atrioventricular groove, extending posteriorly to the left atrial roof and almost surrounding the pulmonary artery anteriorly. The mass was closely associated with the aortic root, but the emergence and path of the left coronary artery and its branches were not adequately visualized ( Figure 2 ). Tissue characterization sequences showed a mass with a heterogeneous appearance on T2-weighted sequences and slightly hyperintense on T1-weighted and T2 with fat saturation sequences ( Figure 2 ). Important mass vascularization was demonstrated with the perfusion sequence, which showed rapid uptake of contrast shortly after its administration. We also found focal late gadolinium enhancement at the periphery of the mass, with no enhancement at its center, a finding that was considered highly suggestive of a paraganglioma ( Figure 3 ). Fluorine-18 fluorodeoxyglucose positron emission tomography was also performed, demonstrating a highly metabolic mass ( Figure 4 ). Figure 2 Cardiac magnetic resonance. (1) Coronal: isointense mass in relation to the left atrial roof. (2) Two-chamber longitudinal: isointense mass in the left atrioventricular groove. (3,4) Axial: mass in relation to the aortic root and the pulmonary artery. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 3 Cardiac magnetic resonance. Delayed enhancement. Focal deposit of gadolinium in the periphery of the mass. Images reproduced with permission from Clínica Shaio-Bogotá-Colombia. Figure 4 Positron emission tomography with 18F-fluorodeoxyglucose (10 mCi). Hypermetabolic mass in the middle mediastinum. Images reproduced with permission from Clínica del Country-Bogotá-Colombia. The case was discussed with the heart team and other departments, such as endocrinology and oncology, concluding that the patient had a clear indication for surgery, with α- and β-blockade, high sodium intake, and adequate hydration before the procedure. However, given that there were doubts regarding the emergence of the left coronary artery and its pathway, coronary angiotomography was performed. The mass was found to surround the left main coronary artery, the proximal segment of the left anterior descending coronary artery, the circumflex coronary artery, and two septal arteries, as well as the great cardiac vein ( Figure 5, Figure 6, Figure 7 ). At that time, and because of these findings, the intervention was considered to be a high-risk procedure. Isotopic radiation with 131 I meta-iodine benzyl guanidine (MIBG) was considered as a palliative intervention, but this approach was rejected because of the risk for hypertensive crises of unpredictable severity. Another approach that was considered was the use of octeotride, but this alternative was not accepted by the multidisciplinary group, because there was a risk for irradiation of adjacent tissue, including the coronary arteries, with an unknown benefit. The risk/benefit assessment of this therapy did not favor the patient either, and surgery was thought to be the only option. Coronary angiography was done looking for a main feeding artery that could be embolized preoperatively to reduce the tumor size and intraoperative blood loss. However, embolization could not be done, because there were many small feeding arteries coming from the left main coronary artery ( Figure 8 ). The patient underwent mass resection, requiring a complete transverse arteriotomy of the ascending aorta, pulmonary trunk, and section of the superior vena cava. The mass was exposed using caudal traction and was found to be closely associated with the posterior wall of the ascending aorta, the pulmonary artery, and the left atrial roof, without infiltration of these structures. Involvement of the left coronary artery trunk was documented, which required ligation and revascularization of the anterior descending coronary artery and the circumflex coronary artery. The mass could be completely resected ( Figure 9 ). Figure 5 Coronary computed tomography. Mass surrounding the left main coronary artery and the proximal segment of the anterior descending and the circumflex coronary arteries. Figure 6 Coronary computed tomography. Mass surrounding the pulmonary artery. Figure 7 Coronary computed tomography. Mass located in the left atrioventricular groove. Figure 8 Coronary arteriography. Mass irrigated by multiple small vessels arising from the anterior descending coronary artery. Figure 9 Surgical specimen. Resected mass. The patient progressed well and was able to be extubated and have her vasopressor support discontinued. Follow-up echocardiography showed that systolic function was moderately affected, with an ejection fraction of 35% and diffuse hypokinesia, which was more pronounced in the anterior descending coronary artery territory. Because of these findings, new coronary angiography was performed, ruling out saphenous bridge compromise ( Figure 10 ). Further follow-up echocardiography showed improvement in systolic function, with an ejection fraction of 55% and preserved contractility of all segments except the basal segment of the anterior septum, which continued to be akinetic. There was also moderate pericardial effusion without increased intrapericardial pressure ( Figure 11, Videos 3 and 4 ). Figure 10 Coronary angiography. Saphenous bridge patent to the anterior descending artery, without lesions. Figure 11 Transthoracic echocardiography. (1) Parasternal view in diastole: pericardial effusion. (2) Parasternal view in systole: akinesia of the basal anteroseptal segment. The pathology report of the surgical specimen described round and oval cells in an organoid pattern with fine chromatin nuclei and degenerative focal atypia ( Figure 12 ). These findings and the immunohistochemical studies were compatible with a paraganglioma. The genetic study showed a succinate dehydrogenase subunit B mutation. The patient progressed satisfactorily and was discharged. One month later, it was found that one of her father's cousins had a para-aortic pheochromocytoma, an incidental finding in the emergency department due to abdominal pain. Figure 12 Round and oval cells, arranged in an organoid pattern, with degenerative focal atypia."}
|
IEM-Treatment
|
IEM_Treatment
|
[] |
6143699
|
{'Case Report': 'A 57-year-old woman presented with a history of multiple painful subcutaneous masses especially around her neck but also bilaterally on her upper arms, back, abdomen, and upper legs. The patient was referred from the neurology department for management of these painful masses, which were obstructing her ability to breath and sleep, forcing her to require home oxygen and a wheelchair for ambulation. She could not lie on her back because of the prominence of the lipomatosis behind her neck and upper back. Our patient reported a history of myoclonus epilepsy with ragged red fibers (MERRF) syndrome with symptoms including cardiomyopathy, peripheral neuropathy, ataxia, muscle weakness, and myoclonus. She reported multiple family members having MERRF syndrome including her mother, maternal grandmother, maternal great grandmother, sisters, brothers, her sons, and nephews with variable presentations and lipomas. Physical examination found the patient seated in a wheelchair on supplemental oxygen. Multiple symmetric large, variably sized tender masses were easily apparent and palpable around her neck, upper back, upper lateral arms, mid and lower back, lower abdomen, and upper thighs ( Fig 1, Fig 2, Fig 3 ). Fig 1 Frontal view. Patient with symmetric supraclavicular lipomatosis. Fig 2 Posterior neck. Upper back buffalo hump lipomatosis. Fig 3 Lateral view. Symmetric lipomatosis of upper arms.'}
|
{'Case Report': 'A 57-year-old woman presented with a history of multiple painful subcutaneous masses especially around her neck but also bilaterally on her upper arms, back, abdomen, and upper legs. The patient was referred from the neurology department for management of these painful masses, which were obstructing her ability to breath and sleep, forcing her to require home oxygen and a wheelchair for ambulation. She could not lie on her back because of the prominence of the lipomatosis behind her neck and upper back. Our patient reported a history of myoclonus epilepsy with ragged red fibers (MERRF) syndrome with symptoms including cardiomyopathy, peripheral neuropathy, ataxia, muscle weakness, and myoclonus. She reported multiple family members having MERRF syndrome including her mother, maternal grandmother, maternal great grandmother, sisters, brothers, her sons, and nephews with variable presentations and lipomas. Physical examination found the patient seated in a wheelchair on supplemental oxygen. Multiple symmetric large, variably sized tender masses were easily apparent and palpable around her neck, upper back, upper lateral arms, mid and lower back, lower abdomen, and upper thighs ( Fig 1, Fig 2, Fig 3 ). Fig 1 Frontal view. Patient with symmetric supraclavicular lipomatosis. Fig 2 Posterior neck. Upper back buffalo hump lipomatosis. Fig 3 Lateral view. Symmetric lipomatosis of upper arms.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[] |
6143699
|
{'Case Report': 'A 57-year-old woman presented with a history of multiple painful subcutaneous masses especially around her neck but also bilaterally on her upper arms, back, abdomen, and upper legs. The patient was referred from the neurology department for management of these painful masses, which were obstructing her ability to breath and sleep, forcing her to require home oxygen and a wheelchair for ambulation. She could not lie on her back because of the prominence of the lipomatosis behind her neck and upper back. Our patient reported a history of myoclonus epilepsy with ragged red fibers (MERRF) syndrome with symptoms including cardiomyopathy, peripheral neuropathy, ataxia, muscle weakness, and myoclonus. She reported multiple family members having MERRF syndrome including her mother, maternal grandmother, maternal great grandmother, sisters, brothers, her sons, and nephews with variable presentations and lipomas. Physical examination found the patient seated in a wheelchair on supplemental oxygen. Multiple symmetric large, variably sized tender masses were easily apparent and palpable around her neck, upper back, upper lateral arms, mid and lower back, lower abdomen, and upper thighs ( Fig 1, Fig 2, Fig 3 ). Fig 1 Frontal view. Patient with symmetric supraclavicular lipomatosis. Fig 2 Posterior neck. Upper back buffalo hump lipomatosis. Fig 3 Lateral view. Symmetric lipomatosis of upper arms.'}
|
{'Case Report': 'A 57-year-old woman presented with a history of multiple painful subcutaneous masses especially around her neck but also bilaterally on her upper arms, back, abdomen, and upper legs. The patient was referred from the neurology department for management of these painful masses, which were obstructing her ability to breath and sleep, forcing her to require home oxygen and a wheelchair for ambulation. She could not lie on her back because of the prominence of the lipomatosis behind her neck and upper back. Our patient reported a history of myoclonus epilepsy with ragged red fibers (MERRF) syndrome with symptoms including cardiomyopathy, peripheral neuropathy, ataxia, muscle weakness, and myoclonus. She reported multiple family members having MERRF syndrome including her mother, maternal grandmother, maternal great grandmother, sisters, brothers, her sons, and nephews with variable presentations and lipomas. Physical examination found the patient seated in a wheelchair on supplemental oxygen. Multiple symmetric large, variably sized tender masses were easily apparent and palpable around her neck, upper back, upper lateral arms, mid and lower back, lower abdomen, and upper thighs ( Fig 1, Fig 2, Fig 3 ). Fig 1 Frontal view. Patient with symmetric supraclavicular lipomatosis. Fig 2 Posterior neck. Upper back buffalo hump lipomatosis. Fig 3 Lateral view. Symmetric lipomatosis of upper arms.'}
|
Gastrointestinal-System
|
GI
|
[] |
6143699
|
{'Case Report': 'A 57-year-old woman presented with a history of multiple painful subcutaneous masses especially around her neck but also bilaterally on her upper arms, back, abdomen, and upper legs. The patient was referred from the neurology department for management of these painful masses, which were obstructing her ability to breath and sleep, forcing her to require home oxygen and a wheelchair for ambulation. She could not lie on her back because of the prominence of the lipomatosis behind her neck and upper back. Our patient reported a history of myoclonus epilepsy with ragged red fibers (MERRF) syndrome with symptoms including cardiomyopathy, peripheral neuropathy, ataxia, muscle weakness, and myoclonus. She reported multiple family members having MERRF syndrome including her mother, maternal grandmother, maternal great grandmother, sisters, brothers, her sons, and nephews with variable presentations and lipomas. Physical examination found the patient seated in a wheelchair on supplemental oxygen. Multiple symmetric large, variably sized tender masses were easily apparent and palpable around her neck, upper back, upper lateral arms, mid and lower back, lower abdomen, and upper thighs ( Fig 1, Fig 2, Fig 3 ). Fig 1 Frontal view. Patient with symmetric supraclavicular lipomatosis. Fig 2 Posterior neck. Upper back buffalo hump lipomatosis. Fig 3 Lateral view. Symmetric lipomatosis of upper arms.'}
|
{'Case Report': 'A 57-year-old woman presented with a history of multiple painful subcutaneous masses especially around her neck but also bilaterally on her upper arms, back, abdomen, and upper legs. The patient was referred from the neurology department for management of these painful masses, which were obstructing her ability to breath and sleep, forcing her to require home oxygen and a wheelchair for ambulation. She could not lie on her back because of the prominence of the lipomatosis behind her neck and upper back. Our patient reported a history of myoclonus epilepsy with ragged red fibers (MERRF) syndrome with symptoms including cardiomyopathy, peripheral neuropathy, ataxia, muscle weakness, and myoclonus. She reported multiple family members having MERRF syndrome including her mother, maternal grandmother, maternal great grandmother, sisters, brothers, her sons, and nephews with variable presentations and lipomas. Physical examination found the patient seated in a wheelchair on supplemental oxygen. Multiple symmetric large, variably sized tender masses were easily apparent and palpable around her neck, upper back, upper lateral arms, mid and lower back, lower abdomen, and upper thighs ( Fig 1, Fig 2, Fig 3 ). Fig 1 Frontal view. Patient with symmetric supraclavicular lipomatosis. Fig 2 Posterior neck. Upper back buffalo hump lipomatosis. Fig 3 Lateral view. Symmetric lipomatosis of upper arms.'}
|
Patient-History
|
History
|
[
"A 57 - year - old woman presented with a history of multiple painful subcutaneous masses especially around her neck but also bilaterally on her upper arms, back, abdomen, and upper legs. The patient was referred from the neurology department for management of these painful masses, which were obstructing her ability to breath and sleep, forcing her to require home oxygen and a wheelchair for ambulation. She could not lie on her back because of the prominence of the lipomatosis behind her neck and upper back",
"Our patient reported a history of myoclonus epilepsy with ragged red fibers ( MERRF ) syndrome with symptoms including cardiomyopathy, peripheral neuropathy, ataxia, muscle weakness, and myoclonus",
"She reported multiple family members having MERRF syndrome including her mother, maternal grandmother, maternal great grandmother, sisters, brothers, her sons, and nephews with variable presentations and lipomas"
] |
6143699
|
{'Case Report': 'A 57-year-old woman presented with a history of multiple painful subcutaneous masses especially around her neck but also bilaterally on her upper arms, back, abdomen, and upper legs. The patient was referred from the neurology department for management of these painful masses, which were obstructing her ability to breath and sleep, forcing her to require home oxygen and a wheelchair for ambulation. She could not lie on her back because of the prominence of the lipomatosis behind her neck and upper back. Our patient reported a history of myoclonus epilepsy with ragged red fibers (MERRF) syndrome with symptoms including cardiomyopathy, peripheral neuropathy, ataxia, muscle weakness, and myoclonus. She reported multiple family members having MERRF syndrome including her mother, maternal grandmother, maternal great grandmother, sisters, brothers, her sons, and nephews with variable presentations and lipomas. Physical examination found the patient seated in a wheelchair on supplemental oxygen. Multiple symmetric large, variably sized tender masses were easily apparent and palpable around her neck, upper back, upper lateral arms, mid and lower back, lower abdomen, and upper thighs ( Fig 1, Fig 2, Fig 3 ). Fig 1 Frontal view. Patient with symmetric supraclavicular lipomatosis. Fig 2 Posterior neck. Upper back buffalo hump lipomatosis. Fig 3 Lateral view. Symmetric lipomatosis of upper arms.'}
|
{'Case Report': 'A 57-year-old woman presented with a history of multiple painful subcutaneous masses especially around her neck but also bilaterally on her upper arms, back, abdomen, and upper legs. The patient was referred from the neurology department for management of these painful masses, which were obstructing her ability to breath and sleep, forcing her to require home oxygen and a wheelchair for ambulation. She could not lie on her back because of the prominence of the lipomatosis behind her neck and upper back. Our patient reported a history of myoclonus epilepsy with ragged red fibers (MERRF) syndrome with symptoms including cardiomyopathy, peripheral neuropathy, ataxia, muscle weakness, and myoclonus. She reported multiple family members having MERRF syndrome including her mother, maternal grandmother, maternal great grandmother, sisters, brothers, her sons, and nephews with variable presentations and lipomas. Physical examination found the patient seated in a wheelchair on supplemental oxygen. Multiple symmetric large, variably sized tender masses were easily apparent and palpable around her neck, upper back, upper lateral arms, mid and lower back, lower abdomen, and upper thighs ( Fig 1, Fig 2, Fig 3 ). Fig 1 Frontal view. Patient with symmetric supraclavicular lipomatosis. Fig 2 Posterior neck. Upper back buffalo hump lipomatosis. Fig 3 Lateral view. Symmetric lipomatosis of upper arms.'}
|
Neurology
|
Neuro
|
[
"wheelchair for ambulation.",
"peripheral neuropathy, ataxia,",
"myoclonus"
] |
6143699
|
{'Case Report': 'A 57-year-old woman presented with a history of multiple painful subcutaneous masses especially around her neck but also bilaterally on her upper arms, back, abdomen, and upper legs. The patient was referred from the neurology department for management of these painful masses, which were obstructing her ability to breath and sleep, forcing her to require home oxygen and a wheelchair for ambulation. She could not lie on her back because of the prominence of the lipomatosis behind her neck and upper back. Our patient reported a history of myoclonus epilepsy with ragged red fibers (MERRF) syndrome with symptoms including cardiomyopathy, peripheral neuropathy, ataxia, muscle weakness, and myoclonus. She reported multiple family members having MERRF syndrome including her mother, maternal grandmother, maternal great grandmother, sisters, brothers, her sons, and nephews with variable presentations and lipomas. Physical examination found the patient seated in a wheelchair on supplemental oxygen. Multiple symmetric large, variably sized tender masses were easily apparent and palpable around her neck, upper back, upper lateral arms, mid and lower back, lower abdomen, and upper thighs ( Fig 1, Fig 2, Fig 3 ). Fig 1 Frontal view. Patient with symmetric supraclavicular lipomatosis. Fig 2 Posterior neck. Upper back buffalo hump lipomatosis. Fig 3 Lateral view. Symmetric lipomatosis of upper arms.'}
|
{'Case Report': 'A 57-year-old woman presented with a history of multiple painful subcutaneous masses especially around her neck but also bilaterally on her upper arms, back, abdomen, and upper legs. The patient was referred from the neurology department for management of these painful masses, which were obstructing her ability to breath and sleep, forcing her to require home oxygen and a wheelchair for ambulation. She could not lie on her back because of the prominence of the lipomatosis behind her neck and upper back. Our patient reported a history of myoclonus epilepsy with ragged red fibers (MERRF) syndrome with symptoms including cardiomyopathy, peripheral neuropathy, ataxia, muscle weakness, and myoclonus. She reported multiple family members having MERRF syndrome including her mother, maternal grandmother, maternal great grandmother, sisters, brothers, her sons, and nephews with variable presentations and lipomas. Physical examination found the patient seated in a wheelchair on supplemental oxygen. Multiple symmetric large, variably sized tender masses were easily apparent and palpable around her neck, upper back, upper lateral arms, mid and lower back, lower abdomen, and upper thighs ( Fig 1, Fig 2, Fig 3 ). Fig 1 Frontal view. Patient with symmetric supraclavicular lipomatosis. Fig 2 Posterior neck. Upper back buffalo hump lipomatosis. Fig 3 Lateral view. Symmetric lipomatosis of upper arms.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[] |
6143699
|
{'Case Report': 'A 57-year-old woman presented with a history of multiple painful subcutaneous masses especially around her neck but also bilaterally on her upper arms, back, abdomen, and upper legs. The patient was referred from the neurology department for management of these painful masses, which were obstructing her ability to breath and sleep, forcing her to require home oxygen and a wheelchair for ambulation. She could not lie on her back because of the prominence of the lipomatosis behind her neck and upper back. Our patient reported a history of myoclonus epilepsy with ragged red fibers (MERRF) syndrome with symptoms including cardiomyopathy, peripheral neuropathy, ataxia, muscle weakness, and myoclonus. She reported multiple family members having MERRF syndrome including her mother, maternal grandmother, maternal great grandmother, sisters, brothers, her sons, and nephews with variable presentations and lipomas. Physical examination found the patient seated in a wheelchair on supplemental oxygen. Multiple symmetric large, variably sized tender masses were easily apparent and palpable around her neck, upper back, upper lateral arms, mid and lower back, lower abdomen, and upper thighs ( Fig 1, Fig 2, Fig 3 ). Fig 1 Frontal view. Patient with symmetric supraclavicular lipomatosis. Fig 2 Posterior neck. Upper back buffalo hump lipomatosis. Fig 3 Lateral view. Symmetric lipomatosis of upper arms.'}
|
{'Case Report': 'A 57-year-old woman presented with a history of multiple painful subcutaneous masses especially around her neck but also bilaterally on her upper arms, back, abdomen, and upper legs. The patient was referred from the neurology department for management of these painful masses, which were obstructing her ability to breath and sleep, forcing her to require home oxygen and a wheelchair for ambulation. She could not lie on her back because of the prominence of the lipomatosis behind her neck and upper back. Our patient reported a history of myoclonus epilepsy with ragged red fibers (MERRF) syndrome with symptoms including cardiomyopathy, peripheral neuropathy, ataxia, muscle weakness, and myoclonus. She reported multiple family members having MERRF syndrome including her mother, maternal grandmother, maternal great grandmother, sisters, brothers, her sons, and nephews with variable presentations and lipomas. Physical examination found the patient seated in a wheelchair on supplemental oxygen. Multiple symmetric large, variably sized tender masses were easily apparent and palpable around her neck, upper back, upper lateral arms, mid and lower back, lower abdomen, and upper thighs ( Fig 1, Fig 2, Fig 3 ). Fig 1 Frontal view. Patient with symmetric supraclavicular lipomatosis. Fig 2 Posterior neck. Upper back buffalo hump lipomatosis. Fig 3 Lateral view. Symmetric lipomatosis of upper arms.'}
|
Cardiovascular-System
|
CVS
|
[
"cardiomyopathy"
] |
6143699
|
{'Case Report': 'A 57-year-old woman presented with a history of multiple painful subcutaneous masses especially around her neck but also bilaterally on her upper arms, back, abdomen, and upper legs. The patient was referred from the neurology department for management of these painful masses, which were obstructing her ability to breath and sleep, forcing her to require home oxygen and a wheelchair for ambulation. She could not lie on her back because of the prominence of the lipomatosis behind her neck and upper back. Our patient reported a history of myoclonus epilepsy with ragged red fibers (MERRF) syndrome with symptoms including cardiomyopathy, peripheral neuropathy, ataxia, muscle weakness, and myoclonus. She reported multiple family members having MERRF syndrome including her mother, maternal grandmother, maternal great grandmother, sisters, brothers, her sons, and nephews with variable presentations and lipomas. Physical examination found the patient seated in a wheelchair on supplemental oxygen. Multiple symmetric large, variably sized tender masses were easily apparent and palpable around her neck, upper back, upper lateral arms, mid and lower back, lower abdomen, and upper thighs ( Fig 1, Fig 2, Fig 3 ). Fig 1 Frontal view. Patient with symmetric supraclavicular lipomatosis. Fig 2 Posterior neck. Upper back buffalo hump lipomatosis. Fig 3 Lateral view. Symmetric lipomatosis of upper arms.'}
|
{'Case Report': 'A 57-year-old woman presented with a history of multiple painful subcutaneous masses especially around her neck but also bilaterally on her upper arms, back, abdomen, and upper legs. The patient was referred from the neurology department for management of these painful masses, which were obstructing her ability to breath and sleep, forcing her to require home oxygen and a wheelchair for ambulation. She could not lie on her back because of the prominence of the lipomatosis behind her neck and upper back. Our patient reported a history of myoclonus epilepsy with ragged red fibers (MERRF) syndrome with symptoms including cardiomyopathy, peripheral neuropathy, ataxia, muscle weakness, and myoclonus. She reported multiple family members having MERRF syndrome including her mother, maternal grandmother, maternal great grandmother, sisters, brothers, her sons, and nephews with variable presentations and lipomas. Physical examination found the patient seated in a wheelchair on supplemental oxygen. Multiple symmetric large, variably sized tender masses were easily apparent and palpable around her neck, upper back, upper lateral arms, mid and lower back, lower abdomen, and upper thighs ( Fig 1, Fig 2, Fig 3 ). Fig 1 Frontal view. Patient with symmetric supraclavicular lipomatosis. Fig 2 Posterior neck. Upper back buffalo hump lipomatosis. Fig 3 Lateral view. Symmetric lipomatosis of upper arms.'}
|
Endocrinology
|
ENDO
|
[] |
6143699
|
{'Case Report': 'A 57-year-old woman presented with a history of multiple painful subcutaneous masses especially around her neck but also bilaterally on her upper arms, back, abdomen, and upper legs. The patient was referred from the neurology department for management of these painful masses, which were obstructing her ability to breath and sleep, forcing her to require home oxygen and a wheelchair for ambulation. She could not lie on her back because of the prominence of the lipomatosis behind her neck and upper back. Our patient reported a history of myoclonus epilepsy with ragged red fibers (MERRF) syndrome with symptoms including cardiomyopathy, peripheral neuropathy, ataxia, muscle weakness, and myoclonus. She reported multiple family members having MERRF syndrome including her mother, maternal grandmother, maternal great grandmother, sisters, brothers, her sons, and nephews with variable presentations and lipomas. Physical examination found the patient seated in a wheelchair on supplemental oxygen. Multiple symmetric large, variably sized tender masses were easily apparent and palpable around her neck, upper back, upper lateral arms, mid and lower back, lower abdomen, and upper thighs ( Fig 1, Fig 2, Fig 3 ). Fig 1 Frontal view. Patient with symmetric supraclavicular lipomatosis. Fig 2 Posterior neck. Upper back buffalo hump lipomatosis. Fig 3 Lateral view. Symmetric lipomatosis of upper arms.'}
|
{'Case Report': 'A 57-year-old woman presented with a history of multiple painful subcutaneous masses especially around her neck but also bilaterally on her upper arms, back, abdomen, and upper legs. The patient was referred from the neurology department for management of these painful masses, which were obstructing her ability to breath and sleep, forcing her to require home oxygen and a wheelchair for ambulation. She could not lie on her back because of the prominence of the lipomatosis behind her neck and upper back. Our patient reported a history of myoclonus epilepsy with ragged red fibers (MERRF) syndrome with symptoms including cardiomyopathy, peripheral neuropathy, ataxia, muscle weakness, and myoclonus. She reported multiple family members having MERRF syndrome including her mother, maternal grandmother, maternal great grandmother, sisters, brothers, her sons, and nephews with variable presentations and lipomas. Physical examination found the patient seated in a wheelchair on supplemental oxygen. Multiple symmetric large, variably sized tender masses were easily apparent and palpable around her neck, upper back, upper lateral arms, mid and lower back, lower abdomen, and upper thighs ( Fig 1, Fig 2, Fig 3 ). Fig 1 Frontal view. Patient with symmetric supraclavicular lipomatosis. Fig 2 Posterior neck. Upper back buffalo hump lipomatosis. Fig 3 Lateral view. Symmetric lipomatosis of upper arms.'}
|
Genitourinary-System
|
GU
|
[] |
6143699
|
{'Case Report': 'A 57-year-old woman presented with a history of multiple painful subcutaneous masses especially around her neck but also bilaterally on her upper arms, back, abdomen, and upper legs. The patient was referred from the neurology department for management of these painful masses, which were obstructing her ability to breath and sleep, forcing her to require home oxygen and a wheelchair for ambulation. She could not lie on her back because of the prominence of the lipomatosis behind her neck and upper back. Our patient reported a history of myoclonus epilepsy with ragged red fibers (MERRF) syndrome with symptoms including cardiomyopathy, peripheral neuropathy, ataxia, muscle weakness, and myoclonus. She reported multiple family members having MERRF syndrome including her mother, maternal grandmother, maternal great grandmother, sisters, brothers, her sons, and nephews with variable presentations and lipomas. Physical examination found the patient seated in a wheelchair on supplemental oxygen. Multiple symmetric large, variably sized tender masses were easily apparent and palpable around her neck, upper back, upper lateral arms, mid and lower back, lower abdomen, and upper thighs ( Fig 1, Fig 2, Fig 3 ). Fig 1 Frontal view. Patient with symmetric supraclavicular lipomatosis. Fig 2 Posterior neck. Upper back buffalo hump lipomatosis. Fig 3 Lateral view. Symmetric lipomatosis of upper arms.'}
|
{'Case Report': 'A 57-year-old woman presented with a history of multiple painful subcutaneous masses especially around her neck but also bilaterally on her upper arms, back, abdomen, and upper legs. The patient was referred from the neurology department for management of these painful masses, which were obstructing her ability to breath and sleep, forcing her to require home oxygen and a wheelchair for ambulation. She could not lie on her back because of the prominence of the lipomatosis behind her neck and upper back. Our patient reported a history of myoclonus epilepsy with ragged red fibers (MERRF) syndrome with symptoms including cardiomyopathy, peripheral neuropathy, ataxia, muscle weakness, and myoclonus. She reported multiple family members having MERRF syndrome including her mother, maternal grandmother, maternal great grandmother, sisters, brothers, her sons, and nephews with variable presentations and lipomas. Physical examination found the patient seated in a wheelchair on supplemental oxygen. Multiple symmetric large, variably sized tender masses were easily apparent and palpable around her neck, upper back, upper lateral arms, mid and lower back, lower abdomen, and upper thighs ( Fig 1, Fig 2, Fig 3 ). Fig 1 Frontal view. Patient with symmetric supraclavicular lipomatosis. Fig 2 Posterior neck. Upper back buffalo hump lipomatosis. Fig 3 Lateral view. Symmetric lipomatosis of upper arms.'}
|
Respiratory-System
|
RESP
|
[
"these painful masses, which were obstructing her ability to breath and sleep"
] |
6143699
|
{'Case Report': 'A 57-year-old woman presented with a history of multiple painful subcutaneous masses especially around her neck but also bilaterally on her upper arms, back, abdomen, and upper legs. The patient was referred from the neurology department for management of these painful masses, which were obstructing her ability to breath and sleep, forcing her to require home oxygen and a wheelchair for ambulation. She could not lie on her back because of the prominence of the lipomatosis behind her neck and upper back. Our patient reported a history of myoclonus epilepsy with ragged red fibers (MERRF) syndrome with symptoms including cardiomyopathy, peripheral neuropathy, ataxia, muscle weakness, and myoclonus. She reported multiple family members having MERRF syndrome including her mother, maternal grandmother, maternal great grandmother, sisters, brothers, her sons, and nephews with variable presentations and lipomas. Physical examination found the patient seated in a wheelchair on supplemental oxygen. Multiple symmetric large, variably sized tender masses were easily apparent and palpable around her neck, upper back, upper lateral arms, mid and lower back, lower abdomen, and upper thighs ( Fig 1, Fig 2, Fig 3 ). Fig 1 Frontal view. Patient with symmetric supraclavicular lipomatosis. Fig 2 Posterior neck. Upper back buffalo hump lipomatosis. Fig 3 Lateral view. Symmetric lipomatosis of upper arms.'}
|
{'Case Report': 'A 57-year-old woman presented with a history of multiple painful subcutaneous masses especially around her neck but also bilaterally on her upper arms, back, abdomen, and upper legs. The patient was referred from the neurology department for management of these painful masses, which were obstructing her ability to breath and sleep, forcing her to require home oxygen and a wheelchair for ambulation. She could not lie on her back because of the prominence of the lipomatosis behind her neck and upper back. Our patient reported a history of myoclonus epilepsy with ragged red fibers (MERRF) syndrome with symptoms including cardiomyopathy, peripheral neuropathy, ataxia, muscle weakness, and myoclonus. She reported multiple family members having MERRF syndrome including her mother, maternal grandmother, maternal great grandmother, sisters, brothers, her sons, and nephews with variable presentations and lipomas. Physical examination found the patient seated in a wheelchair on supplemental oxygen. Multiple symmetric large, variably sized tender masses were easily apparent and palpable around her neck, upper back, upper lateral arms, mid and lower back, lower abdomen, and upper thighs ( Fig 1, Fig 2, Fig 3 ). Fig 1 Frontal view. Patient with symmetric supraclavicular lipomatosis. Fig 2 Posterior neck. Upper back buffalo hump lipomatosis. Fig 3 Lateral view. Symmetric lipomatosis of upper arms.'}
|
Musculoskeletal-System
|
MSK
|
[
"muscle weakness,"
] |
6143699
|
{'Case Report': 'A 57-year-old woman presented with a history of multiple painful subcutaneous masses especially around her neck but also bilaterally on her upper arms, back, abdomen, and upper legs. The patient was referred from the neurology department for management of these painful masses, which were obstructing her ability to breath and sleep, forcing her to require home oxygen and a wheelchair for ambulation. She could not lie on her back because of the prominence of the lipomatosis behind her neck and upper back. Our patient reported a history of myoclonus epilepsy with ragged red fibers (MERRF) syndrome with symptoms including cardiomyopathy, peripheral neuropathy, ataxia, muscle weakness, and myoclonus. She reported multiple family members having MERRF syndrome including her mother, maternal grandmother, maternal great grandmother, sisters, brothers, her sons, and nephews with variable presentations and lipomas. Physical examination found the patient seated in a wheelchair on supplemental oxygen. Multiple symmetric large, variably sized tender masses were easily apparent and palpable around her neck, upper back, upper lateral arms, mid and lower back, lower abdomen, and upper thighs ( Fig 1, Fig 2, Fig 3 ). Fig 1 Frontal view. Patient with symmetric supraclavicular lipomatosis. Fig 2 Posterior neck. Upper back buffalo hump lipomatosis. Fig 3 Lateral view. Symmetric lipomatosis of upper arms.'}
|
{'Case Report': 'A 57-year-old woman presented with a history of multiple painful subcutaneous masses especially around her neck but also bilaterally on her upper arms, back, abdomen, and upper legs. The patient was referred from the neurology department for management of these painful masses, which were obstructing her ability to breath and sleep, forcing her to require home oxygen and a wheelchair for ambulation. She could not lie on her back because of the prominence of the lipomatosis behind her neck and upper back. Our patient reported a history of myoclonus epilepsy with ragged red fibers (MERRF) syndrome with symptoms including cardiomyopathy, peripheral neuropathy, ataxia, muscle weakness, and myoclonus. She reported multiple family members having MERRF syndrome including her mother, maternal grandmother, maternal great grandmother, sisters, brothers, her sons, and nephews with variable presentations and lipomas. Physical examination found the patient seated in a wheelchair on supplemental oxygen. Multiple symmetric large, variably sized tender masses were easily apparent and palpable around her neck, upper back, upper lateral arms, mid and lower back, lower abdomen, and upper thighs ( Fig 1, Fig 2, Fig 3 ). Fig 1 Frontal view. Patient with symmetric supraclavicular lipomatosis. Fig 2 Posterior neck. Upper back buffalo hump lipomatosis. Fig 3 Lateral view. Symmetric lipomatosis of upper arms.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[] |
6143699
|
{'Case Report': 'A 57-year-old woman presented with a history of multiple painful subcutaneous masses especially around her neck but also bilaterally on her upper arms, back, abdomen, and upper legs. The patient was referred from the neurology department for management of these painful masses, which were obstructing her ability to breath and sleep, forcing her to require home oxygen and a wheelchair for ambulation. She could not lie on her back because of the prominence of the lipomatosis behind her neck and upper back. Our patient reported a history of myoclonus epilepsy with ragged red fibers (MERRF) syndrome with symptoms including cardiomyopathy, peripheral neuropathy, ataxia, muscle weakness, and myoclonus. She reported multiple family members having MERRF syndrome including her mother, maternal grandmother, maternal great grandmother, sisters, brothers, her sons, and nephews with variable presentations and lipomas. Physical examination found the patient seated in a wheelchair on supplemental oxygen. Multiple symmetric large, variably sized tender masses were easily apparent and palpable around her neck, upper back, upper lateral arms, mid and lower back, lower abdomen, and upper thighs ( Fig 1, Fig 2, Fig 3 ). Fig 1 Frontal view. Patient with symmetric supraclavicular lipomatosis. Fig 2 Posterior neck. Upper back buffalo hump lipomatosis. Fig 3 Lateral view. Symmetric lipomatosis of upper arms.'}
|
{'Case Report': 'A 57-year-old woman presented with a history of multiple painful subcutaneous masses especially around her neck but also bilaterally on her upper arms, back, abdomen, and upper legs. The patient was referred from the neurology department for management of these painful masses, which were obstructing her ability to breath and sleep, forcing her to require home oxygen and a wheelchair for ambulation. She could not lie on her back because of the prominence of the lipomatosis behind her neck and upper back. Our patient reported a history of myoclonus epilepsy with ragged red fibers (MERRF) syndrome with symptoms including cardiomyopathy, peripheral neuropathy, ataxia, muscle weakness, and myoclonus. She reported multiple family members having MERRF syndrome including her mother, maternal grandmother, maternal great grandmother, sisters, brothers, her sons, and nephews with variable presentations and lipomas. Physical examination found the patient seated in a wheelchair on supplemental oxygen. Multiple symmetric large, variably sized tender masses were easily apparent and palpable around her neck, upper back, upper lateral arms, mid and lower back, lower abdomen, and upper thighs ( Fig 1, Fig 2, Fig 3 ). Fig 1 Frontal view. Patient with symmetric supraclavicular lipomatosis. Fig 2 Posterior neck. Upper back buffalo hump lipomatosis. Fig 3 Lateral view. Symmetric lipomatosis of upper arms.'}
|
Dermatology
|
DERM
|
[
"multiple painful subcutaneous masses especially around her neck but also bilaterally on her upper arms, back, abdomen, and upper legs",
"She could not lie on her back because of the prominence of the lipomatosis behind her neck and upper back.",
"Multiple symmetric large, variably sized tender masses were easily apparent and palpable around her neck, upper back, upper lateral arms, mid and lower back, lower abdomen, and upper thighs",
"symmetric supraclavicular lipomatosis",
"Upper back buffalo hump lipomatosis",
"Symmetric lipomatosis of upper arms."
] |
6143699
|
{'Case Report': 'A 57-year-old woman presented with a history of multiple painful subcutaneous masses especially around her neck but also bilaterally on her upper arms, back, abdomen, and upper legs. The patient was referred from the neurology department for management of these painful masses, which were obstructing her ability to breath and sleep, forcing her to require home oxygen and a wheelchair for ambulation. She could not lie on her back because of the prominence of the lipomatosis behind her neck and upper back. Our patient reported a history of myoclonus epilepsy with ragged red fibers (MERRF) syndrome with symptoms including cardiomyopathy, peripheral neuropathy, ataxia, muscle weakness, and myoclonus. She reported multiple family members having MERRF syndrome including her mother, maternal grandmother, maternal great grandmother, sisters, brothers, her sons, and nephews with variable presentations and lipomas. Physical examination found the patient seated in a wheelchair on supplemental oxygen. Multiple symmetric large, variably sized tender masses were easily apparent and palpable around her neck, upper back, upper lateral arms, mid and lower back, lower abdomen, and upper thighs ( Fig 1, Fig 2, Fig 3 ). Fig 1 Frontal view. Patient with symmetric supraclavicular lipomatosis. Fig 2 Posterior neck. Upper back buffalo hump lipomatosis. Fig 3 Lateral view. Symmetric lipomatosis of upper arms.'}
|
{'Case Report': 'A 57-year-old woman presented with a history of multiple painful subcutaneous masses especially around her neck but also bilaterally on her upper arms, back, abdomen, and upper legs. The patient was referred from the neurology department for management of these painful masses, which were obstructing her ability to breath and sleep, forcing her to require home oxygen and a wheelchair for ambulation. She could not lie on her back because of the prominence of the lipomatosis behind her neck and upper back. Our patient reported a history of myoclonus epilepsy with ragged red fibers (MERRF) syndrome with symptoms including cardiomyopathy, peripheral neuropathy, ataxia, muscle weakness, and myoclonus. She reported multiple family members having MERRF syndrome including her mother, maternal grandmother, maternal great grandmother, sisters, brothers, her sons, and nephews with variable presentations and lipomas. Physical examination found the patient seated in a wheelchair on supplemental oxygen. Multiple symmetric large, variably sized tender masses were easily apparent and palpable around her neck, upper back, upper lateral arms, mid and lower back, lower abdomen, and upper thighs ( Fig 1, Fig 2, Fig 3 ). Fig 1 Frontal view. Patient with symmetric supraclavicular lipomatosis. Fig 2 Posterior neck. Upper back buffalo hump lipomatosis. Fig 3 Lateral view. Symmetric lipomatosis of upper arms.'}
|
Pregnancy
|
Pregnancy
|
[] |
6143699
|
{'Case Report': 'A 57-year-old woman presented with a history of multiple painful subcutaneous masses especially around her neck but also bilaterally on her upper arms, back, abdomen, and upper legs. The patient was referred from the neurology department for management of these painful masses, which were obstructing her ability to breath and sleep, forcing her to require home oxygen and a wheelchair for ambulation. She could not lie on her back because of the prominence of the lipomatosis behind her neck and upper back. Our patient reported a history of myoclonus epilepsy with ragged red fibers (MERRF) syndrome with symptoms including cardiomyopathy, peripheral neuropathy, ataxia, muscle weakness, and myoclonus. She reported multiple family members having MERRF syndrome including her mother, maternal grandmother, maternal great grandmother, sisters, brothers, her sons, and nephews with variable presentations and lipomas. Physical examination found the patient seated in a wheelchair on supplemental oxygen. Multiple symmetric large, variably sized tender masses were easily apparent and palpable around her neck, upper back, upper lateral arms, mid and lower back, lower abdomen, and upper thighs ( Fig 1, Fig 2, Fig 3 ). Fig 1 Frontal view. Patient with symmetric supraclavicular lipomatosis. Fig 2 Posterior neck. Upper back buffalo hump lipomatosis. Fig 3 Lateral view. Symmetric lipomatosis of upper arms.'}
|
{'Case Report': 'A 57-year-old woman presented with a history of multiple painful subcutaneous masses especially around her neck but also bilaterally on her upper arms, back, abdomen, and upper legs. The patient was referred from the neurology department for management of these painful masses, which were obstructing her ability to breath and sleep, forcing her to require home oxygen and a wheelchair for ambulation. She could not lie on her back because of the prominence of the lipomatosis behind her neck and upper back. Our patient reported a history of myoclonus epilepsy with ragged red fibers (MERRF) syndrome with symptoms including cardiomyopathy, peripheral neuropathy, ataxia, muscle weakness, and myoclonus. She reported multiple family members having MERRF syndrome including her mother, maternal grandmother, maternal great grandmother, sisters, brothers, her sons, and nephews with variable presentations and lipomas. Physical examination found the patient seated in a wheelchair on supplemental oxygen. Multiple symmetric large, variably sized tender masses were easily apparent and palpable around her neck, upper back, upper lateral arms, mid and lower back, lower abdomen, and upper thighs ( Fig 1, Fig 2, Fig 3 ). Fig 1 Frontal view. Patient with symmetric supraclavicular lipomatosis. Fig 2 Posterior neck. Upper back buffalo hump lipomatosis. Fig 3 Lateral view. Symmetric lipomatosis of upper arms.'}
|
Lymphatic-System
|
LYMPH
|
[] |
6143699
|
{'Case Report': 'A 57-year-old woman presented with a history of multiple painful subcutaneous masses especially around her neck but also bilaterally on her upper arms, back, abdomen, and upper legs. The patient was referred from the neurology department for management of these painful masses, which were obstructing her ability to breath and sleep, forcing her to require home oxygen and a wheelchair for ambulation. She could not lie on her back because of the prominence of the lipomatosis behind her neck and upper back. Our patient reported a history of myoclonus epilepsy with ragged red fibers (MERRF) syndrome with symptoms including cardiomyopathy, peripheral neuropathy, ataxia, muscle weakness, and myoclonus. She reported multiple family members having MERRF syndrome including her mother, maternal grandmother, maternal great grandmother, sisters, brothers, her sons, and nephews with variable presentations and lipomas. Physical examination found the patient seated in a wheelchair on supplemental oxygen. Multiple symmetric large, variably sized tender masses were easily apparent and palpable around her neck, upper back, upper lateral arms, mid and lower back, lower abdomen, and upper thighs ( Fig 1, Fig 2, Fig 3 ). Fig 1 Frontal view. Patient with symmetric supraclavicular lipomatosis. Fig 2 Posterior neck. Upper back buffalo hump lipomatosis. Fig 3 Lateral view. Symmetric lipomatosis of upper arms.'}
|
{'Case Report': 'A 57-year-old woman presented with a history of multiple painful subcutaneous masses especially around her neck but also bilaterally on her upper arms, back, abdomen, and upper legs. The patient was referred from the neurology department for management of these painful masses, which were obstructing her ability to breath and sleep, forcing her to require home oxygen and a wheelchair for ambulation. She could not lie on her back because of the prominence of the lipomatosis behind her neck and upper back. Our patient reported a history of myoclonus epilepsy with ragged red fibers (MERRF) syndrome with symptoms including cardiomyopathy, peripheral neuropathy, ataxia, muscle weakness, and myoclonus. She reported multiple family members having MERRF syndrome including her mother, maternal grandmother, maternal great grandmother, sisters, brothers, her sons, and nephews with variable presentations and lipomas. Physical examination found the patient seated in a wheelchair on supplemental oxygen. Multiple symmetric large, variably sized tender masses were easily apparent and palpable around her neck, upper back, upper lateral arms, mid and lower back, lower abdomen, and upper thighs ( Fig 1, Fig 2, Fig 3 ). Fig 1 Frontal view. Patient with symmetric supraclavicular lipomatosis. Fig 2 Posterior neck. Upper back buffalo hump lipomatosis. Fig 3 Lateral view. Symmetric lipomatosis of upper arms.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"57 - year - old"
] |
6143699
|
{'Case Report': 'A 57-year-old woman presented with a history of multiple painful subcutaneous masses especially around her neck but also bilaterally on her upper arms, back, abdomen, and upper legs. The patient was referred from the neurology department for management of these painful masses, which were obstructing her ability to breath and sleep, forcing her to require home oxygen and a wheelchair for ambulation. She could not lie on her back because of the prominence of the lipomatosis behind her neck and upper back. Our patient reported a history of myoclonus epilepsy with ragged red fibers (MERRF) syndrome with symptoms including cardiomyopathy, peripheral neuropathy, ataxia, muscle weakness, and myoclonus. She reported multiple family members having MERRF syndrome including her mother, maternal grandmother, maternal great grandmother, sisters, brothers, her sons, and nephews with variable presentations and lipomas. Physical examination found the patient seated in a wheelchair on supplemental oxygen. Multiple symmetric large, variably sized tender masses were easily apparent and palpable around her neck, upper back, upper lateral arms, mid and lower back, lower abdomen, and upper thighs ( Fig 1, Fig 2, Fig 3 ). Fig 1 Frontal view. Patient with symmetric supraclavicular lipomatosis. Fig 2 Posterior neck. Upper back buffalo hump lipomatosis. Fig 3 Lateral view. Symmetric lipomatosis of upper arms.'}
|
{'Case Report': 'A 57-year-old woman presented with a history of multiple painful subcutaneous masses especially around her neck but also bilaterally on her upper arms, back, abdomen, and upper legs. The patient was referred from the neurology department for management of these painful masses, which were obstructing her ability to breath and sleep, forcing her to require home oxygen and a wheelchair for ambulation. She could not lie on her back because of the prominence of the lipomatosis behind her neck and upper back. Our patient reported a history of myoclonus epilepsy with ragged red fibers (MERRF) syndrome with symptoms including cardiomyopathy, peripheral neuropathy, ataxia, muscle weakness, and myoclonus. She reported multiple family members having MERRF syndrome including her mother, maternal grandmother, maternal great grandmother, sisters, brothers, her sons, and nephews with variable presentations and lipomas. Physical examination found the patient seated in a wheelchair on supplemental oxygen. Multiple symmetric large, variably sized tender masses were easily apparent and palpable around her neck, upper back, upper lateral arms, mid and lower back, lower abdomen, and upper thighs ( Fig 1, Fig 2, Fig 3 ). Fig 1 Frontal view. Patient with symmetric supraclavicular lipomatosis. Fig 2 Posterior neck. Upper back buffalo hump lipomatosis. Fig 3 Lateral view. Symmetric lipomatosis of upper arms.'}
|
Age-of-Onset
|
Age (of onset)
|
[] |
6143699
|
{'Case Report': 'A 57-year-old woman presented with a history of multiple painful subcutaneous masses especially around her neck but also bilaterally on her upper arms, back, abdomen, and upper legs. The patient was referred from the neurology department for management of these painful masses, which were obstructing her ability to breath and sleep, forcing her to require home oxygen and a wheelchair for ambulation. She could not lie on her back because of the prominence of the lipomatosis behind her neck and upper back. Our patient reported a history of myoclonus epilepsy with ragged red fibers (MERRF) syndrome with symptoms including cardiomyopathy, peripheral neuropathy, ataxia, muscle weakness, and myoclonus. She reported multiple family members having MERRF syndrome including her mother, maternal grandmother, maternal great grandmother, sisters, brothers, her sons, and nephews with variable presentations and lipomas. Physical examination found the patient seated in a wheelchair on supplemental oxygen. Multiple symmetric large, variably sized tender masses were easily apparent and palpable around her neck, upper back, upper lateral arms, mid and lower back, lower abdomen, and upper thighs ( Fig 1, Fig 2, Fig 3 ). Fig 1 Frontal view. Patient with symmetric supraclavicular lipomatosis. Fig 2 Posterior neck. Upper back buffalo hump lipomatosis. Fig 3 Lateral view. Symmetric lipomatosis of upper arms.'}
|
{'Case Report': 'A 57-year-old woman presented with a history of multiple painful subcutaneous masses especially around her neck but also bilaterally on her upper arms, back, abdomen, and upper legs. The patient was referred from the neurology department for management of these painful masses, which were obstructing her ability to breath and sleep, forcing her to require home oxygen and a wheelchair for ambulation. She could not lie on her back because of the prominence of the lipomatosis behind her neck and upper back. Our patient reported a history of myoclonus epilepsy with ragged red fibers (MERRF) syndrome with symptoms including cardiomyopathy, peripheral neuropathy, ataxia, muscle weakness, and myoclonus. She reported multiple family members having MERRF syndrome including her mother, maternal grandmother, maternal great grandmother, sisters, brothers, her sons, and nephews with variable presentations and lipomas. Physical examination found the patient seated in a wheelchair on supplemental oxygen. Multiple symmetric large, variably sized tender masses were easily apparent and palpable around her neck, upper back, upper lateral arms, mid and lower back, lower abdomen, and upper thighs ( Fig 1, Fig 2, Fig 3 ). Fig 1 Frontal view. Patient with symmetric supraclavicular lipomatosis. Fig 2 Posterior neck. Upper back buffalo hump lipomatosis. Fig 3 Lateral view. Symmetric lipomatosis of upper arms.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"myoclonus epilepsy with ragged red fibers ( MERRF )"
] |
6143699
|
{'Case Report': 'A 57-year-old woman presented with a history of multiple painful subcutaneous masses especially around her neck but also bilaterally on her upper arms, back, abdomen, and upper legs. The patient was referred from the neurology department for management of these painful masses, which were obstructing her ability to breath and sleep, forcing her to require home oxygen and a wheelchair for ambulation. She could not lie on her back because of the prominence of the lipomatosis behind her neck and upper back. Our patient reported a history of myoclonus epilepsy with ragged red fibers (MERRF) syndrome with symptoms including cardiomyopathy, peripheral neuropathy, ataxia, muscle weakness, and myoclonus. She reported multiple family members having MERRF syndrome including her mother, maternal grandmother, maternal great grandmother, sisters, brothers, her sons, and nephews with variable presentations and lipomas. Physical examination found the patient seated in a wheelchair on supplemental oxygen. Multiple symmetric large, variably sized tender masses were easily apparent and palpable around her neck, upper back, upper lateral arms, mid and lower back, lower abdomen, and upper thighs ( Fig 1, Fig 2, Fig 3 ). Fig 1 Frontal view. Patient with symmetric supraclavicular lipomatosis. Fig 2 Posterior neck. Upper back buffalo hump lipomatosis. Fig 3 Lateral view. Symmetric lipomatosis of upper arms.'}
|
{'Case Report': 'A 57-year-old woman presented with a history of multiple painful subcutaneous masses especially around her neck but also bilaterally on her upper arms, back, abdomen, and upper legs. The patient was referred from the neurology department for management of these painful masses, which were obstructing her ability to breath and sleep, forcing her to require home oxygen and a wheelchair for ambulation. She could not lie on her back because of the prominence of the lipomatosis behind her neck and upper back. Our patient reported a history of myoclonus epilepsy with ragged red fibers (MERRF) syndrome with symptoms including cardiomyopathy, peripheral neuropathy, ataxia, muscle weakness, and myoclonus. She reported multiple family members having MERRF syndrome including her mother, maternal grandmother, maternal great grandmother, sisters, brothers, her sons, and nephews with variable presentations and lipomas. Physical examination found the patient seated in a wheelchair on supplemental oxygen. Multiple symmetric large, variably sized tender masses were easily apparent and palpable around her neck, upper back, upper lateral arms, mid and lower back, lower abdomen, and upper thighs ( Fig 1, Fig 2, Fig 3 ). Fig 1 Frontal view. Patient with symmetric supraclavicular lipomatosis. Fig 2 Posterior neck. Upper back buffalo hump lipomatosis. Fig 3 Lateral view. Symmetric lipomatosis of upper arms.'}
|
IEM-Treatment
|
IEM_Treatment
|
[] |
6531061
|
{'Diagnoses:': 'The proband underwent a thorough examination in our hospital and was diagnosed as mitochondrial encephalomyopathy. The proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene. Although his parents did not carry the mutation.', 'Case presentation': "The proband was a 12-year-old boy on first visiting to our hospital. The proband was the first and the only child of his healthy, nonconsanguineous parents of Han Chinese descentand was born at 38 weeks gestation by spontaneous delivery. The proband had no postnatal adaptation, and the Apgar score was unknown. He was admitted to the hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after the treatment of unexplained fever and somnolence. The highest temperature was 37.8°C, accompanied by vomiting 4 to 5 times on the same day, with insufficient spirits. The study was conducted in accordance with the Declaration of Helsinki and was approved by the local ethics committee of our hospital (no. 2018021). Informed written consent was obtained from all participants prior to their enrollment in this study. The proband underwent a thorough examination in our hospital, including electroencephalogram, echocardiogram, electrocardiogram, brain magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS), physical examination, laboratory examination, and mitochondrial gene detection. Genomic DNA from the family was extracted from peripheral whole blood samples using the genomic DNA extraction kit (Qiagen) according to the manufacturer's instructions. The entire mitochondrial genomes of the family were PCR amplified in 24 overlapping fragments by using sets of the light strand and the heavy strand oligonucleotide primers, as described elsewhere. Each fragment was purified and subsequently Sanger sequencings were conducted by TSINGKE Biological Technology(Beijing, China). The resultant sequence data were compared with the revised consensus Cambridge sequence (GenBank accession no. NC-012920). His electroencephalogram showed clear increase of 4–5c/s theta waves, 2–3c/s delta waves, with a small amount of sharp waves. His brain MRI revealed abnormal signal, brain tissue swelling, and midline structure was shifted slightly to the right (Fig. 1 A). A large lactate peak and decreased N -acetylaspartate were found in this region on proton MRS (Fig. 1 B). Normal structure and ejection fraction were observed via echocardiography. Serum lactate dehydrogenase, creatine kinase, α-hydroxybutyrate dehydrogenase were significantly higher than normal, whereas creatinine, sodium, and chloride were significantly lower than normal. In the cerebrospinal fluid examination, the leucocyte count was zero, red blood cell count was 210×10 6 L, chloride was slightly lower, the protein and sugar quantifications were in normal control range. Mitochondrial sequencing revealed that the proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene, while his parents did not carry the mutation (Fig. 2 ). The patient was treated according to the diagnosis of mitochondrial encephalomyopathy. Intravenous acyclovir, ceftriaxone and dexamethasone were used for antiviral, antimicrobial, and anti-inflammatory therapy, respectively. Intravenous mannitol was gradually tapered for reducing intracranial pressure with furosemide for inducing diuresis. Intravenous arginine could help to treat alkalosis and supple some essential amino acids. Oral oxiracetam capsules, vitamin B1, and coenzyme Q10 were used for providing nutrition and improving energy. His medications were 30 mg vitamin B1, 0.1gm vitamin C and mecobalamin 750 μg daily after discharge from our hospital. The patient was able to walk and talk slowly with improved writing skills and no stroke-like episodes. The neurological examination was negative and muscle tension was identified as grade V.", 'Patient concerns:': "A 12-year-old boy was admitted to Shaoxing People's Hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after treatment of unexplained fever and somnolence."}
|
{'Diagnoses:': 'The proband underwent a thorough examination in our hospital and was diagnosed as mitochondrial encephalomyopathy. The proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene. Although his parents did not carry the mutation.', 'Case presentation': "The proband was a 12-year-old boy on first visiting to our hospital. The proband was the first and the only child of his healthy, nonconsanguineous parents of Han Chinese descentand was born at 38 weeks gestation by spontaneous delivery. The proband had no postnatal adaptation, and the Apgar score was unknown. He was admitted to the hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after the treatment of unexplained fever and somnolence. The highest temperature was 37.8°C, accompanied by vomiting 4 to 5 times on the same day, with insufficient spirits. The study was conducted in accordance with the Declaration of Helsinki and was approved by the local ethics committee of our hospital (no. 2018021). Informed written consent was obtained from all participants prior to their enrollment in this study. The proband underwent a thorough examination in our hospital, including electroencephalogram, echocardiogram, electrocardiogram, brain magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS), physical examination, laboratory examination, and mitochondrial gene detection. Genomic DNA from the family was extracted from peripheral whole blood samples using the genomic DNA extraction kit (Qiagen) according to the manufacturer's instructions. The entire mitochondrial genomes of the family were PCR amplified in 24 overlapping fragments by using sets of the light strand and the heavy strand oligonucleotide primers, as described elsewhere. Each fragment was purified and subsequently Sanger sequencings were conducted by TSINGKE Biological Technology(Beijing, China). The resultant sequence data were compared with the revised consensus Cambridge sequence (GenBank accession no. NC-012920). His electroencephalogram showed clear increase of 4–5c/s theta waves, 2–3c/s delta waves, with a small amount of sharp waves. His brain MRI revealed abnormal signal, brain tissue swelling, and midline structure was shifted slightly to the right (Fig. 1 A). A large lactate peak and decreased N -acetylaspartate were found in this region on proton MRS (Fig. 1 B). Normal structure and ejection fraction were observed via echocardiography. Serum lactate dehydrogenase, creatine kinase, α-hydroxybutyrate dehydrogenase were significantly higher than normal, whereas creatinine, sodium, and chloride were significantly lower than normal. In the cerebrospinal fluid examination, the leucocyte count was zero, red blood cell count was 210×10 6 L, chloride was slightly lower, the protein and sugar quantifications were in normal control range. Mitochondrial sequencing revealed that the proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene, while his parents did not carry the mutation (Fig. 2 ). The patient was treated according to the diagnosis of mitochondrial encephalomyopathy. Intravenous acyclovir, ceftriaxone and dexamethasone were used for antiviral, antimicrobial, and anti-inflammatory therapy, respectively. Intravenous mannitol was gradually tapered for reducing intracranial pressure with furosemide for inducing diuresis. Intravenous arginine could help to treat alkalosis and supple some essential amino acids. Oral oxiracetam capsules, vitamin B1, and coenzyme Q10 were used for providing nutrition and improving energy. His medications were 30 mg vitamin B1, 0.1gm vitamin C and mecobalamin 750 μg daily after discharge from our hospital. The patient was able to walk and talk slowly with improved writing skills and no stroke-like episodes. The neurological examination was negative and muscle tension was identified as grade V.", 'Patient concerns:': "A 12-year-old boy was admitted to Shaoxing People's Hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after treatment of unexplained fever and somnolence."}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[
"The highest temperature was 37.8 ° C"
] |
6531061
|
{'Diagnoses:': 'The proband underwent a thorough examination in our hospital and was diagnosed as mitochondrial encephalomyopathy. The proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene. Although his parents did not carry the mutation.', 'Case presentation': "The proband was a 12-year-old boy on first visiting to our hospital. The proband was the first and the only child of his healthy, nonconsanguineous parents of Han Chinese descentand was born at 38 weeks gestation by spontaneous delivery. The proband had no postnatal adaptation, and the Apgar score was unknown. He was admitted to the hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after the treatment of unexplained fever and somnolence. The highest temperature was 37.8°C, accompanied by vomiting 4 to 5 times on the same day, with insufficient spirits. The study was conducted in accordance with the Declaration of Helsinki and was approved by the local ethics committee of our hospital (no. 2018021). Informed written consent was obtained from all participants prior to their enrollment in this study. The proband underwent a thorough examination in our hospital, including electroencephalogram, echocardiogram, electrocardiogram, brain magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS), physical examination, laboratory examination, and mitochondrial gene detection. Genomic DNA from the family was extracted from peripheral whole blood samples using the genomic DNA extraction kit (Qiagen) according to the manufacturer's instructions. The entire mitochondrial genomes of the family were PCR amplified in 24 overlapping fragments by using sets of the light strand and the heavy strand oligonucleotide primers, as described elsewhere. Each fragment was purified and subsequently Sanger sequencings were conducted by TSINGKE Biological Technology(Beijing, China). The resultant sequence data were compared with the revised consensus Cambridge sequence (GenBank accession no. NC-012920). His electroencephalogram showed clear increase of 4–5c/s theta waves, 2–3c/s delta waves, with a small amount of sharp waves. His brain MRI revealed abnormal signal, brain tissue swelling, and midline structure was shifted slightly to the right (Fig. 1 A). A large lactate peak and decreased N -acetylaspartate were found in this region on proton MRS (Fig. 1 B). Normal structure and ejection fraction were observed via echocardiography. Serum lactate dehydrogenase, creatine kinase, α-hydroxybutyrate dehydrogenase were significantly higher than normal, whereas creatinine, sodium, and chloride were significantly lower than normal. In the cerebrospinal fluid examination, the leucocyte count was zero, red blood cell count was 210×10 6 L, chloride was slightly lower, the protein and sugar quantifications were in normal control range. Mitochondrial sequencing revealed that the proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene, while his parents did not carry the mutation (Fig. 2 ). The patient was treated according to the diagnosis of mitochondrial encephalomyopathy. Intravenous acyclovir, ceftriaxone and dexamethasone were used for antiviral, antimicrobial, and anti-inflammatory therapy, respectively. Intravenous mannitol was gradually tapered for reducing intracranial pressure with furosemide for inducing diuresis. Intravenous arginine could help to treat alkalosis and supple some essential amino acids. Oral oxiracetam capsules, vitamin B1, and coenzyme Q10 were used for providing nutrition and improving energy. His medications were 30 mg vitamin B1, 0.1gm vitamin C and mecobalamin 750 μg daily after discharge from our hospital. The patient was able to walk and talk slowly with improved writing skills and no stroke-like episodes. The neurological examination was negative and muscle tension was identified as grade V.", 'Patient concerns:': "A 12-year-old boy was admitted to Shaoxing People's Hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after treatment of unexplained fever and somnolence."}
|
{'Diagnoses:': 'The proband underwent a thorough examination in our hospital and was diagnosed as mitochondrial encephalomyopathy. The proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene. Although his parents did not carry the mutation.', 'Case presentation': "The proband was a 12-year-old boy on first visiting to our hospital. The proband was the first and the only child of his healthy, nonconsanguineous parents of Han Chinese descentand was born at 38 weeks gestation by spontaneous delivery. The proband had no postnatal adaptation, and the Apgar score was unknown. He was admitted to the hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after the treatment of unexplained fever and somnolence. The highest temperature was 37.8°C, accompanied by vomiting 4 to 5 times on the same day, with insufficient spirits. The study was conducted in accordance with the Declaration of Helsinki and was approved by the local ethics committee of our hospital (no. 2018021). Informed written consent was obtained from all participants prior to their enrollment in this study. The proband underwent a thorough examination in our hospital, including electroencephalogram, echocardiogram, electrocardiogram, brain magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS), physical examination, laboratory examination, and mitochondrial gene detection. Genomic DNA from the family was extracted from peripheral whole blood samples using the genomic DNA extraction kit (Qiagen) according to the manufacturer's instructions. The entire mitochondrial genomes of the family were PCR amplified in 24 overlapping fragments by using sets of the light strand and the heavy strand oligonucleotide primers, as described elsewhere. Each fragment was purified and subsequently Sanger sequencings were conducted by TSINGKE Biological Technology(Beijing, China). The resultant sequence data were compared with the revised consensus Cambridge sequence (GenBank accession no. NC-012920). His electroencephalogram showed clear increase of 4–5c/s theta waves, 2–3c/s delta waves, with a small amount of sharp waves. His brain MRI revealed abnormal signal, brain tissue swelling, and midline structure was shifted slightly to the right (Fig. 1 A). A large lactate peak and decreased N -acetylaspartate were found in this region on proton MRS (Fig. 1 B). Normal structure and ejection fraction were observed via echocardiography. Serum lactate dehydrogenase, creatine kinase, α-hydroxybutyrate dehydrogenase were significantly higher than normal, whereas creatinine, sodium, and chloride were significantly lower than normal. In the cerebrospinal fluid examination, the leucocyte count was zero, red blood cell count was 210×10 6 L, chloride was slightly lower, the protein and sugar quantifications were in normal control range. Mitochondrial sequencing revealed that the proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene, while his parents did not carry the mutation (Fig. 2 ). The patient was treated according to the diagnosis of mitochondrial encephalomyopathy. Intravenous acyclovir, ceftriaxone and dexamethasone were used for antiviral, antimicrobial, and anti-inflammatory therapy, respectively. Intravenous mannitol was gradually tapered for reducing intracranial pressure with furosemide for inducing diuresis. Intravenous arginine could help to treat alkalosis and supple some essential amino acids. Oral oxiracetam capsules, vitamin B1, and coenzyme Q10 were used for providing nutrition and improving energy. His medications were 30 mg vitamin B1, 0.1gm vitamin C and mecobalamin 750 μg daily after discharge from our hospital. The patient was able to walk and talk slowly with improved writing skills and no stroke-like episodes. The neurological examination was negative and muscle tension was identified as grade V.", 'Patient concerns:': "A 12-year-old boy was admitted to Shaoxing People's Hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after treatment of unexplained fever and somnolence."}
|
Gastrointestinal-System
|
GI
|
[
"vomiting 4 to 5 times on the same day,"
] |
6531061
|
{'Diagnoses:': 'The proband underwent a thorough examination in our hospital and was diagnosed as mitochondrial encephalomyopathy. The proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene. Although his parents did not carry the mutation.', 'Case presentation': "The proband was a 12-year-old boy on first visiting to our hospital. The proband was the first and the only child of his healthy, nonconsanguineous parents of Han Chinese descentand was born at 38 weeks gestation by spontaneous delivery. The proband had no postnatal adaptation, and the Apgar score was unknown. He was admitted to the hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after the treatment of unexplained fever and somnolence. The highest temperature was 37.8°C, accompanied by vomiting 4 to 5 times on the same day, with insufficient spirits. The study was conducted in accordance with the Declaration of Helsinki and was approved by the local ethics committee of our hospital (no. 2018021). Informed written consent was obtained from all participants prior to their enrollment in this study. The proband underwent a thorough examination in our hospital, including electroencephalogram, echocardiogram, electrocardiogram, brain magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS), physical examination, laboratory examination, and mitochondrial gene detection. Genomic DNA from the family was extracted from peripheral whole blood samples using the genomic DNA extraction kit (Qiagen) according to the manufacturer's instructions. The entire mitochondrial genomes of the family were PCR amplified in 24 overlapping fragments by using sets of the light strand and the heavy strand oligonucleotide primers, as described elsewhere. Each fragment was purified and subsequently Sanger sequencings were conducted by TSINGKE Biological Technology(Beijing, China). The resultant sequence data were compared with the revised consensus Cambridge sequence (GenBank accession no. NC-012920). His electroencephalogram showed clear increase of 4–5c/s theta waves, 2–3c/s delta waves, with a small amount of sharp waves. His brain MRI revealed abnormal signal, brain tissue swelling, and midline structure was shifted slightly to the right (Fig. 1 A). A large lactate peak and decreased N -acetylaspartate were found in this region on proton MRS (Fig. 1 B). Normal structure and ejection fraction were observed via echocardiography. Serum lactate dehydrogenase, creatine kinase, α-hydroxybutyrate dehydrogenase were significantly higher than normal, whereas creatinine, sodium, and chloride were significantly lower than normal. In the cerebrospinal fluid examination, the leucocyte count was zero, red blood cell count was 210×10 6 L, chloride was slightly lower, the protein and sugar quantifications were in normal control range. Mitochondrial sequencing revealed that the proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene, while his parents did not carry the mutation (Fig. 2 ). The patient was treated according to the diagnosis of mitochondrial encephalomyopathy. Intravenous acyclovir, ceftriaxone and dexamethasone were used for antiviral, antimicrobial, and anti-inflammatory therapy, respectively. Intravenous mannitol was gradually tapered for reducing intracranial pressure with furosemide for inducing diuresis. Intravenous arginine could help to treat alkalosis and supple some essential amino acids. Oral oxiracetam capsules, vitamin B1, and coenzyme Q10 were used for providing nutrition and improving energy. His medications were 30 mg vitamin B1, 0.1gm vitamin C and mecobalamin 750 μg daily after discharge from our hospital. The patient was able to walk and talk slowly with improved writing skills and no stroke-like episodes. The neurological examination was negative and muscle tension was identified as grade V.", 'Patient concerns:': "A 12-year-old boy was admitted to Shaoxing People's Hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after treatment of unexplained fever and somnolence."}
|
{'Diagnoses:': 'The proband underwent a thorough examination in our hospital and was diagnosed as mitochondrial encephalomyopathy. The proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene. Although his parents did not carry the mutation.', 'Case presentation': "The proband was a 12-year-old boy on first visiting to our hospital. The proband was the first and the only child of his healthy, nonconsanguineous parents of Han Chinese descentand was born at 38 weeks gestation by spontaneous delivery. The proband had no postnatal adaptation, and the Apgar score was unknown. He was admitted to the hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after the treatment of unexplained fever and somnolence. The highest temperature was 37.8°C, accompanied by vomiting 4 to 5 times on the same day, with insufficient spirits. The study was conducted in accordance with the Declaration of Helsinki and was approved by the local ethics committee of our hospital (no. 2018021). Informed written consent was obtained from all participants prior to their enrollment in this study. The proband underwent a thorough examination in our hospital, including electroencephalogram, echocardiogram, electrocardiogram, brain magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS), physical examination, laboratory examination, and mitochondrial gene detection. Genomic DNA from the family was extracted from peripheral whole blood samples using the genomic DNA extraction kit (Qiagen) according to the manufacturer's instructions. The entire mitochondrial genomes of the family were PCR amplified in 24 overlapping fragments by using sets of the light strand and the heavy strand oligonucleotide primers, as described elsewhere. Each fragment was purified and subsequently Sanger sequencings were conducted by TSINGKE Biological Technology(Beijing, China). The resultant sequence data were compared with the revised consensus Cambridge sequence (GenBank accession no. NC-012920). His electroencephalogram showed clear increase of 4–5c/s theta waves, 2–3c/s delta waves, with a small amount of sharp waves. His brain MRI revealed abnormal signal, brain tissue swelling, and midline structure was shifted slightly to the right (Fig. 1 A). A large lactate peak and decreased N -acetylaspartate were found in this region on proton MRS (Fig. 1 B). Normal structure and ejection fraction were observed via echocardiography. Serum lactate dehydrogenase, creatine kinase, α-hydroxybutyrate dehydrogenase were significantly higher than normal, whereas creatinine, sodium, and chloride were significantly lower than normal. In the cerebrospinal fluid examination, the leucocyte count was zero, red blood cell count was 210×10 6 L, chloride was slightly lower, the protein and sugar quantifications were in normal control range. Mitochondrial sequencing revealed that the proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene, while his parents did not carry the mutation (Fig. 2 ). The patient was treated according to the diagnosis of mitochondrial encephalomyopathy. Intravenous acyclovir, ceftriaxone and dexamethasone were used for antiviral, antimicrobial, and anti-inflammatory therapy, respectively. Intravenous mannitol was gradually tapered for reducing intracranial pressure with furosemide for inducing diuresis. Intravenous arginine could help to treat alkalosis and supple some essential amino acids. Oral oxiracetam capsules, vitamin B1, and coenzyme Q10 were used for providing nutrition and improving energy. His medications were 30 mg vitamin B1, 0.1gm vitamin C and mecobalamin 750 μg daily after discharge from our hospital. The patient was able to walk and talk slowly with improved writing skills and no stroke-like episodes. The neurological examination was negative and muscle tension was identified as grade V.", 'Patient concerns:': "A 12-year-old boy was admitted to Shaoxing People's Hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after treatment of unexplained fever and somnolence."}
|
Patient-History
|
History
|
[
"A 12 - year - old boy was admitted to Shaoxing People 's Hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after treatment of unexplained fever and somnolence"
] |
6531061
|
{'Diagnoses:': 'The proband underwent a thorough examination in our hospital and was diagnosed as mitochondrial encephalomyopathy. The proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene. Although his parents did not carry the mutation.', 'Case presentation': "The proband was a 12-year-old boy on first visiting to our hospital. The proband was the first and the only child of his healthy, nonconsanguineous parents of Han Chinese descentand was born at 38 weeks gestation by spontaneous delivery. The proband had no postnatal adaptation, and the Apgar score was unknown. He was admitted to the hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after the treatment of unexplained fever and somnolence. The highest temperature was 37.8°C, accompanied by vomiting 4 to 5 times on the same day, with insufficient spirits. The study was conducted in accordance with the Declaration of Helsinki and was approved by the local ethics committee of our hospital (no. 2018021). Informed written consent was obtained from all participants prior to their enrollment in this study. The proband underwent a thorough examination in our hospital, including electroencephalogram, echocardiogram, electrocardiogram, brain magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS), physical examination, laboratory examination, and mitochondrial gene detection. Genomic DNA from the family was extracted from peripheral whole blood samples using the genomic DNA extraction kit (Qiagen) according to the manufacturer's instructions. The entire mitochondrial genomes of the family were PCR amplified in 24 overlapping fragments by using sets of the light strand and the heavy strand oligonucleotide primers, as described elsewhere. Each fragment was purified and subsequently Sanger sequencings were conducted by TSINGKE Biological Technology(Beijing, China). The resultant sequence data were compared with the revised consensus Cambridge sequence (GenBank accession no. NC-012920). His electroencephalogram showed clear increase of 4–5c/s theta waves, 2–3c/s delta waves, with a small amount of sharp waves. His brain MRI revealed abnormal signal, brain tissue swelling, and midline structure was shifted slightly to the right (Fig. 1 A). A large lactate peak and decreased N -acetylaspartate were found in this region on proton MRS (Fig. 1 B). Normal structure and ejection fraction were observed via echocardiography. Serum lactate dehydrogenase, creatine kinase, α-hydroxybutyrate dehydrogenase were significantly higher than normal, whereas creatinine, sodium, and chloride were significantly lower than normal. In the cerebrospinal fluid examination, the leucocyte count was zero, red blood cell count was 210×10 6 L, chloride was slightly lower, the protein and sugar quantifications were in normal control range. Mitochondrial sequencing revealed that the proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene, while his parents did not carry the mutation (Fig. 2 ). The patient was treated according to the diagnosis of mitochondrial encephalomyopathy. Intravenous acyclovir, ceftriaxone and dexamethasone were used for antiviral, antimicrobial, and anti-inflammatory therapy, respectively. Intravenous mannitol was gradually tapered for reducing intracranial pressure with furosemide for inducing diuresis. Intravenous arginine could help to treat alkalosis and supple some essential amino acids. Oral oxiracetam capsules, vitamin B1, and coenzyme Q10 were used for providing nutrition and improving energy. His medications were 30 mg vitamin B1, 0.1gm vitamin C and mecobalamin 750 μg daily after discharge from our hospital. The patient was able to walk and talk slowly with improved writing skills and no stroke-like episodes. The neurological examination was negative and muscle tension was identified as grade V.", 'Patient concerns:': "A 12-year-old boy was admitted to Shaoxing People's Hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after treatment of unexplained fever and somnolence."}
|
{'Diagnoses:': 'The proband underwent a thorough examination in our hospital and was diagnosed as mitochondrial encephalomyopathy. The proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene. Although his parents did not carry the mutation.', 'Case presentation': "The proband was a 12-year-old boy on first visiting to our hospital. The proband was the first and the only child of his healthy, nonconsanguineous parents of Han Chinese descentand was born at 38 weeks gestation by spontaneous delivery. The proband had no postnatal adaptation, and the Apgar score was unknown. He was admitted to the hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after the treatment of unexplained fever and somnolence. The highest temperature was 37.8°C, accompanied by vomiting 4 to 5 times on the same day, with insufficient spirits. The study was conducted in accordance with the Declaration of Helsinki and was approved by the local ethics committee of our hospital (no. 2018021). Informed written consent was obtained from all participants prior to their enrollment in this study. The proband underwent a thorough examination in our hospital, including electroencephalogram, echocardiogram, electrocardiogram, brain magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS), physical examination, laboratory examination, and mitochondrial gene detection. Genomic DNA from the family was extracted from peripheral whole blood samples using the genomic DNA extraction kit (Qiagen) according to the manufacturer's instructions. The entire mitochondrial genomes of the family were PCR amplified in 24 overlapping fragments by using sets of the light strand and the heavy strand oligonucleotide primers, as described elsewhere. Each fragment was purified and subsequently Sanger sequencings were conducted by TSINGKE Biological Technology(Beijing, China). The resultant sequence data were compared with the revised consensus Cambridge sequence (GenBank accession no. NC-012920). His electroencephalogram showed clear increase of 4–5c/s theta waves, 2–3c/s delta waves, with a small amount of sharp waves. His brain MRI revealed abnormal signal, brain tissue swelling, and midline structure was shifted slightly to the right (Fig. 1 A). A large lactate peak and decreased N -acetylaspartate were found in this region on proton MRS (Fig. 1 B). Normal structure and ejection fraction were observed via echocardiography. Serum lactate dehydrogenase, creatine kinase, α-hydroxybutyrate dehydrogenase were significantly higher than normal, whereas creatinine, sodium, and chloride were significantly lower than normal. In the cerebrospinal fluid examination, the leucocyte count was zero, red blood cell count was 210×10 6 L, chloride was slightly lower, the protein and sugar quantifications were in normal control range. Mitochondrial sequencing revealed that the proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene, while his parents did not carry the mutation (Fig. 2 ). The patient was treated according to the diagnosis of mitochondrial encephalomyopathy. Intravenous acyclovir, ceftriaxone and dexamethasone were used for antiviral, antimicrobial, and anti-inflammatory therapy, respectively. Intravenous mannitol was gradually tapered for reducing intracranial pressure with furosemide for inducing diuresis. Intravenous arginine could help to treat alkalosis and supple some essential amino acids. Oral oxiracetam capsules, vitamin B1, and coenzyme Q10 were used for providing nutrition and improving energy. His medications were 30 mg vitamin B1, 0.1gm vitamin C and mecobalamin 750 μg daily after discharge from our hospital. The patient was able to walk and talk slowly with improved writing skills and no stroke-like episodes. The neurological examination was negative and muscle tension was identified as grade V.", 'Patient concerns:': "A 12-year-old boy was admitted to Shaoxing People's Hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after treatment of unexplained fever and somnolence."}
|
Neurology
|
Neuro
|
[
"a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking",
"and somnolence.",
"insufficient spirits.",
"His electroencephalogram showed clear increase of 4–5c / s theta waves, 2–3c / s delta waves, with a small amount of sharp waves",
"His brain MRI revealed abnormal signal, brain tissue swelling, and midline structure was shifted slightly to the right ( Fig. 1 A ). A large lactate peak and decreased N -acetylaspartate were found in this region on proton MRS",
"In the cerebrospinal fluid examination, the leucocyte count was zero, red blood cell count was 210×10 6 L, chloride was slightly lower, the protein and sugar quantifications were in normal control range",
"able to walk and talk slowly with improved writing skills and no stroke - like episodes",
"neurological examination was negative",
"reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking",
"somnolence."
] |
6531061
|
{'Diagnoses:': 'The proband underwent a thorough examination in our hospital and was diagnosed as mitochondrial encephalomyopathy. The proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene. Although his parents did not carry the mutation.', 'Case presentation': "The proband was a 12-year-old boy on first visiting to our hospital. The proband was the first and the only child of his healthy, nonconsanguineous parents of Han Chinese descentand was born at 38 weeks gestation by spontaneous delivery. The proband had no postnatal adaptation, and the Apgar score was unknown. He was admitted to the hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after the treatment of unexplained fever and somnolence. The highest temperature was 37.8°C, accompanied by vomiting 4 to 5 times on the same day, with insufficient spirits. The study was conducted in accordance with the Declaration of Helsinki and was approved by the local ethics committee of our hospital (no. 2018021). Informed written consent was obtained from all participants prior to their enrollment in this study. The proband underwent a thorough examination in our hospital, including electroencephalogram, echocardiogram, electrocardiogram, brain magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS), physical examination, laboratory examination, and mitochondrial gene detection. Genomic DNA from the family was extracted from peripheral whole blood samples using the genomic DNA extraction kit (Qiagen) according to the manufacturer's instructions. The entire mitochondrial genomes of the family were PCR amplified in 24 overlapping fragments by using sets of the light strand and the heavy strand oligonucleotide primers, as described elsewhere. Each fragment was purified and subsequently Sanger sequencings were conducted by TSINGKE Biological Technology(Beijing, China). The resultant sequence data were compared with the revised consensus Cambridge sequence (GenBank accession no. NC-012920). His electroencephalogram showed clear increase of 4–5c/s theta waves, 2–3c/s delta waves, with a small amount of sharp waves. His brain MRI revealed abnormal signal, brain tissue swelling, and midline structure was shifted slightly to the right (Fig. 1 A). A large lactate peak and decreased N -acetylaspartate were found in this region on proton MRS (Fig. 1 B). Normal structure and ejection fraction were observed via echocardiography. Serum lactate dehydrogenase, creatine kinase, α-hydroxybutyrate dehydrogenase were significantly higher than normal, whereas creatinine, sodium, and chloride were significantly lower than normal. In the cerebrospinal fluid examination, the leucocyte count was zero, red blood cell count was 210×10 6 L, chloride was slightly lower, the protein and sugar quantifications were in normal control range. Mitochondrial sequencing revealed that the proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene, while his parents did not carry the mutation (Fig. 2 ). The patient was treated according to the diagnosis of mitochondrial encephalomyopathy. Intravenous acyclovir, ceftriaxone and dexamethasone were used for antiviral, antimicrobial, and anti-inflammatory therapy, respectively. Intravenous mannitol was gradually tapered for reducing intracranial pressure with furosemide for inducing diuresis. Intravenous arginine could help to treat alkalosis and supple some essential amino acids. Oral oxiracetam capsules, vitamin B1, and coenzyme Q10 were used for providing nutrition and improving energy. His medications were 30 mg vitamin B1, 0.1gm vitamin C and mecobalamin 750 μg daily after discharge from our hospital. The patient was able to walk and talk slowly with improved writing skills and no stroke-like episodes. The neurological examination was negative and muscle tension was identified as grade V.", 'Patient concerns:': "A 12-year-old boy was admitted to Shaoxing People's Hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after treatment of unexplained fever and somnolence."}
|
{'Diagnoses:': 'The proband underwent a thorough examination in our hospital and was diagnosed as mitochondrial encephalomyopathy. The proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene. Although his parents did not carry the mutation.', 'Case presentation': "The proband was a 12-year-old boy on first visiting to our hospital. The proband was the first and the only child of his healthy, nonconsanguineous parents of Han Chinese descentand was born at 38 weeks gestation by spontaneous delivery. The proband had no postnatal adaptation, and the Apgar score was unknown. He was admitted to the hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after the treatment of unexplained fever and somnolence. The highest temperature was 37.8°C, accompanied by vomiting 4 to 5 times on the same day, with insufficient spirits. The study was conducted in accordance with the Declaration of Helsinki and was approved by the local ethics committee of our hospital (no. 2018021). Informed written consent was obtained from all participants prior to their enrollment in this study. The proband underwent a thorough examination in our hospital, including electroencephalogram, echocardiogram, electrocardiogram, brain magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS), physical examination, laboratory examination, and mitochondrial gene detection. Genomic DNA from the family was extracted from peripheral whole blood samples using the genomic DNA extraction kit (Qiagen) according to the manufacturer's instructions. The entire mitochondrial genomes of the family were PCR amplified in 24 overlapping fragments by using sets of the light strand and the heavy strand oligonucleotide primers, as described elsewhere. Each fragment was purified and subsequently Sanger sequencings were conducted by TSINGKE Biological Technology(Beijing, China). The resultant sequence data were compared with the revised consensus Cambridge sequence (GenBank accession no. NC-012920). His electroencephalogram showed clear increase of 4–5c/s theta waves, 2–3c/s delta waves, with a small amount of sharp waves. His brain MRI revealed abnormal signal, brain tissue swelling, and midline structure was shifted slightly to the right (Fig. 1 A). A large lactate peak and decreased N -acetylaspartate were found in this region on proton MRS (Fig. 1 B). Normal structure and ejection fraction were observed via echocardiography. Serum lactate dehydrogenase, creatine kinase, α-hydroxybutyrate dehydrogenase were significantly higher than normal, whereas creatinine, sodium, and chloride were significantly lower than normal. In the cerebrospinal fluid examination, the leucocyte count was zero, red blood cell count was 210×10 6 L, chloride was slightly lower, the protein and sugar quantifications were in normal control range. Mitochondrial sequencing revealed that the proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene, while his parents did not carry the mutation (Fig. 2 ). The patient was treated according to the diagnosis of mitochondrial encephalomyopathy. Intravenous acyclovir, ceftriaxone and dexamethasone were used for antiviral, antimicrobial, and anti-inflammatory therapy, respectively. Intravenous mannitol was gradually tapered for reducing intracranial pressure with furosemide for inducing diuresis. Intravenous arginine could help to treat alkalosis and supple some essential amino acids. Oral oxiracetam capsules, vitamin B1, and coenzyme Q10 were used for providing nutrition and improving energy. His medications were 30 mg vitamin B1, 0.1gm vitamin C and mecobalamin 750 μg daily after discharge from our hospital. The patient was able to walk and talk slowly with improved writing skills and no stroke-like episodes. The neurological examination was negative and muscle tension was identified as grade V.", 'Patient concerns:': "A 12-year-old boy was admitted to Shaoxing People's Hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after treatment of unexplained fever and somnolence."}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"proband carried the pathogenic heteroplasmic mutation A3243 G mutation in mitochondrial 12S rRNA gene",
"His brain MRI revealed abnormal signal, brain tissue swelling, and midline structure was shifted slightly to the right ( Fig. 1 A ). A large lactate peak and decreased N -acetylaspartate were found in this region on proton MRS",
"Normal structure and ejection fraction were observed via echocardiography",
"Serum lactate dehydrogenase, creatine kinase, α - hydroxybutyrate dehydrogenase were significantly higher than normal, whereas creatinine, sodium, and chloride were significantly lower than normal. In the cerebrospinal fluid examination, the leucocyte count was zero, red blood cell count was 210×10 6 L, chloride was slightly lower, the protein and sugar quantifications were in normal control range",
"Mitochondrial sequencing revealed that the proband carried the pathogenic heteroplasmic mutation A3243 G mutation in mitochondrial 12S rRNA gene, while his parents did not carry the mutation"
] |
6531061
|
{'Diagnoses:': 'The proband underwent a thorough examination in our hospital and was diagnosed as mitochondrial encephalomyopathy. The proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene. Although his parents did not carry the mutation.', 'Case presentation': "The proband was a 12-year-old boy on first visiting to our hospital. The proband was the first and the only child of his healthy, nonconsanguineous parents of Han Chinese descentand was born at 38 weeks gestation by spontaneous delivery. The proband had no postnatal adaptation, and the Apgar score was unknown. He was admitted to the hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after the treatment of unexplained fever and somnolence. The highest temperature was 37.8°C, accompanied by vomiting 4 to 5 times on the same day, with insufficient spirits. The study was conducted in accordance with the Declaration of Helsinki and was approved by the local ethics committee of our hospital (no. 2018021). Informed written consent was obtained from all participants prior to their enrollment in this study. The proband underwent a thorough examination in our hospital, including electroencephalogram, echocardiogram, electrocardiogram, brain magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS), physical examination, laboratory examination, and mitochondrial gene detection. Genomic DNA from the family was extracted from peripheral whole blood samples using the genomic DNA extraction kit (Qiagen) according to the manufacturer's instructions. The entire mitochondrial genomes of the family were PCR amplified in 24 overlapping fragments by using sets of the light strand and the heavy strand oligonucleotide primers, as described elsewhere. Each fragment was purified and subsequently Sanger sequencings were conducted by TSINGKE Biological Technology(Beijing, China). The resultant sequence data were compared with the revised consensus Cambridge sequence (GenBank accession no. NC-012920). His electroencephalogram showed clear increase of 4–5c/s theta waves, 2–3c/s delta waves, with a small amount of sharp waves. His brain MRI revealed abnormal signal, brain tissue swelling, and midline structure was shifted slightly to the right (Fig. 1 A). A large lactate peak and decreased N -acetylaspartate were found in this region on proton MRS (Fig. 1 B). Normal structure and ejection fraction were observed via echocardiography. Serum lactate dehydrogenase, creatine kinase, α-hydroxybutyrate dehydrogenase were significantly higher than normal, whereas creatinine, sodium, and chloride were significantly lower than normal. In the cerebrospinal fluid examination, the leucocyte count was zero, red blood cell count was 210×10 6 L, chloride was slightly lower, the protein and sugar quantifications were in normal control range. Mitochondrial sequencing revealed that the proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene, while his parents did not carry the mutation (Fig. 2 ). The patient was treated according to the diagnosis of mitochondrial encephalomyopathy. Intravenous acyclovir, ceftriaxone and dexamethasone were used for antiviral, antimicrobial, and anti-inflammatory therapy, respectively. Intravenous mannitol was gradually tapered for reducing intracranial pressure with furosemide for inducing diuresis. Intravenous arginine could help to treat alkalosis and supple some essential amino acids. Oral oxiracetam capsules, vitamin B1, and coenzyme Q10 were used for providing nutrition and improving energy. His medications were 30 mg vitamin B1, 0.1gm vitamin C and mecobalamin 750 μg daily after discharge from our hospital. The patient was able to walk and talk slowly with improved writing skills and no stroke-like episodes. The neurological examination was negative and muscle tension was identified as grade V.", 'Patient concerns:': "A 12-year-old boy was admitted to Shaoxing People's Hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after treatment of unexplained fever and somnolence."}
|
{'Diagnoses:': 'The proband underwent a thorough examination in our hospital and was diagnosed as mitochondrial encephalomyopathy. The proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene. Although his parents did not carry the mutation.', 'Case presentation': "The proband was a 12-year-old boy on first visiting to our hospital. The proband was the first and the only child of his healthy, nonconsanguineous parents of Han Chinese descentand was born at 38 weeks gestation by spontaneous delivery. The proband had no postnatal adaptation, and the Apgar score was unknown. He was admitted to the hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after the treatment of unexplained fever and somnolence. The highest temperature was 37.8°C, accompanied by vomiting 4 to 5 times on the same day, with insufficient spirits. The study was conducted in accordance with the Declaration of Helsinki and was approved by the local ethics committee of our hospital (no. 2018021). Informed written consent was obtained from all participants prior to their enrollment in this study. The proband underwent a thorough examination in our hospital, including electroencephalogram, echocardiogram, electrocardiogram, brain magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS), physical examination, laboratory examination, and mitochondrial gene detection. Genomic DNA from the family was extracted from peripheral whole blood samples using the genomic DNA extraction kit (Qiagen) according to the manufacturer's instructions. The entire mitochondrial genomes of the family were PCR amplified in 24 overlapping fragments by using sets of the light strand and the heavy strand oligonucleotide primers, as described elsewhere. Each fragment was purified and subsequently Sanger sequencings were conducted by TSINGKE Biological Technology(Beijing, China). The resultant sequence data were compared with the revised consensus Cambridge sequence (GenBank accession no. NC-012920). His electroencephalogram showed clear increase of 4–5c/s theta waves, 2–3c/s delta waves, with a small amount of sharp waves. His brain MRI revealed abnormal signal, brain tissue swelling, and midline structure was shifted slightly to the right (Fig. 1 A). A large lactate peak and decreased N -acetylaspartate were found in this region on proton MRS (Fig. 1 B). Normal structure and ejection fraction were observed via echocardiography. Serum lactate dehydrogenase, creatine kinase, α-hydroxybutyrate dehydrogenase were significantly higher than normal, whereas creatinine, sodium, and chloride were significantly lower than normal. In the cerebrospinal fluid examination, the leucocyte count was zero, red blood cell count was 210×10 6 L, chloride was slightly lower, the protein and sugar quantifications were in normal control range. Mitochondrial sequencing revealed that the proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene, while his parents did not carry the mutation (Fig. 2 ). The patient was treated according to the diagnosis of mitochondrial encephalomyopathy. Intravenous acyclovir, ceftriaxone and dexamethasone were used for antiviral, antimicrobial, and anti-inflammatory therapy, respectively. Intravenous mannitol was gradually tapered for reducing intracranial pressure with furosemide for inducing diuresis. Intravenous arginine could help to treat alkalosis and supple some essential amino acids. Oral oxiracetam capsules, vitamin B1, and coenzyme Q10 were used for providing nutrition and improving energy. His medications were 30 mg vitamin B1, 0.1gm vitamin C and mecobalamin 750 μg daily after discharge from our hospital. The patient was able to walk and talk slowly with improved writing skills and no stroke-like episodes. The neurological examination was negative and muscle tension was identified as grade V.", 'Patient concerns:': "A 12-year-old boy was admitted to Shaoxing People's Hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after treatment of unexplained fever and somnolence."}
|
Cardiovascular-System
|
CVS
|
[] |
6531061
|
{'Diagnoses:': 'The proband underwent a thorough examination in our hospital and was diagnosed as mitochondrial encephalomyopathy. The proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene. Although his parents did not carry the mutation.', 'Case presentation': "The proband was a 12-year-old boy on first visiting to our hospital. The proband was the first and the only child of his healthy, nonconsanguineous parents of Han Chinese descentand was born at 38 weeks gestation by spontaneous delivery. The proband had no postnatal adaptation, and the Apgar score was unknown. He was admitted to the hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after the treatment of unexplained fever and somnolence. The highest temperature was 37.8°C, accompanied by vomiting 4 to 5 times on the same day, with insufficient spirits. The study was conducted in accordance with the Declaration of Helsinki and was approved by the local ethics committee of our hospital (no. 2018021). Informed written consent was obtained from all participants prior to their enrollment in this study. The proband underwent a thorough examination in our hospital, including electroencephalogram, echocardiogram, electrocardiogram, brain magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS), physical examination, laboratory examination, and mitochondrial gene detection. Genomic DNA from the family was extracted from peripheral whole blood samples using the genomic DNA extraction kit (Qiagen) according to the manufacturer's instructions. The entire mitochondrial genomes of the family were PCR amplified in 24 overlapping fragments by using sets of the light strand and the heavy strand oligonucleotide primers, as described elsewhere. Each fragment was purified and subsequently Sanger sequencings were conducted by TSINGKE Biological Technology(Beijing, China). The resultant sequence data were compared with the revised consensus Cambridge sequence (GenBank accession no. NC-012920). His electroencephalogram showed clear increase of 4–5c/s theta waves, 2–3c/s delta waves, with a small amount of sharp waves. His brain MRI revealed abnormal signal, brain tissue swelling, and midline structure was shifted slightly to the right (Fig. 1 A). A large lactate peak and decreased N -acetylaspartate were found in this region on proton MRS (Fig. 1 B). Normal structure and ejection fraction were observed via echocardiography. Serum lactate dehydrogenase, creatine kinase, α-hydroxybutyrate dehydrogenase were significantly higher than normal, whereas creatinine, sodium, and chloride were significantly lower than normal. In the cerebrospinal fluid examination, the leucocyte count was zero, red blood cell count was 210×10 6 L, chloride was slightly lower, the protein and sugar quantifications were in normal control range. Mitochondrial sequencing revealed that the proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene, while his parents did not carry the mutation (Fig. 2 ). The patient was treated according to the diagnosis of mitochondrial encephalomyopathy. Intravenous acyclovir, ceftriaxone and dexamethasone were used for antiviral, antimicrobial, and anti-inflammatory therapy, respectively. Intravenous mannitol was gradually tapered for reducing intracranial pressure with furosemide for inducing diuresis. Intravenous arginine could help to treat alkalosis and supple some essential amino acids. Oral oxiracetam capsules, vitamin B1, and coenzyme Q10 were used for providing nutrition and improving energy. His medications were 30 mg vitamin B1, 0.1gm vitamin C and mecobalamin 750 μg daily after discharge from our hospital. The patient was able to walk and talk slowly with improved writing skills and no stroke-like episodes. The neurological examination was negative and muscle tension was identified as grade V.", 'Patient concerns:': "A 12-year-old boy was admitted to Shaoxing People's Hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after treatment of unexplained fever and somnolence."}
|
{'Diagnoses:': 'The proband underwent a thorough examination in our hospital and was diagnosed as mitochondrial encephalomyopathy. The proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene. Although his parents did not carry the mutation.', 'Case presentation': "The proband was a 12-year-old boy on first visiting to our hospital. The proband was the first and the only child of his healthy, nonconsanguineous parents of Han Chinese descentand was born at 38 weeks gestation by spontaneous delivery. The proband had no postnatal adaptation, and the Apgar score was unknown. He was admitted to the hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after the treatment of unexplained fever and somnolence. The highest temperature was 37.8°C, accompanied by vomiting 4 to 5 times on the same day, with insufficient spirits. The study was conducted in accordance with the Declaration of Helsinki and was approved by the local ethics committee of our hospital (no. 2018021). Informed written consent was obtained from all participants prior to their enrollment in this study. The proband underwent a thorough examination in our hospital, including electroencephalogram, echocardiogram, electrocardiogram, brain magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS), physical examination, laboratory examination, and mitochondrial gene detection. Genomic DNA from the family was extracted from peripheral whole blood samples using the genomic DNA extraction kit (Qiagen) according to the manufacturer's instructions. The entire mitochondrial genomes of the family were PCR amplified in 24 overlapping fragments by using sets of the light strand and the heavy strand oligonucleotide primers, as described elsewhere. Each fragment was purified and subsequently Sanger sequencings were conducted by TSINGKE Biological Technology(Beijing, China). The resultant sequence data were compared with the revised consensus Cambridge sequence (GenBank accession no. NC-012920). His electroencephalogram showed clear increase of 4–5c/s theta waves, 2–3c/s delta waves, with a small amount of sharp waves. His brain MRI revealed abnormal signal, brain tissue swelling, and midline structure was shifted slightly to the right (Fig. 1 A). A large lactate peak and decreased N -acetylaspartate were found in this region on proton MRS (Fig. 1 B). Normal structure and ejection fraction were observed via echocardiography. Serum lactate dehydrogenase, creatine kinase, α-hydroxybutyrate dehydrogenase were significantly higher than normal, whereas creatinine, sodium, and chloride were significantly lower than normal. In the cerebrospinal fluid examination, the leucocyte count was zero, red blood cell count was 210×10 6 L, chloride was slightly lower, the protein and sugar quantifications were in normal control range. Mitochondrial sequencing revealed that the proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene, while his parents did not carry the mutation (Fig. 2 ). The patient was treated according to the diagnosis of mitochondrial encephalomyopathy. Intravenous acyclovir, ceftriaxone and dexamethasone were used for antiviral, antimicrobial, and anti-inflammatory therapy, respectively. Intravenous mannitol was gradually tapered for reducing intracranial pressure with furosemide for inducing diuresis. Intravenous arginine could help to treat alkalosis and supple some essential amino acids. Oral oxiracetam capsules, vitamin B1, and coenzyme Q10 were used for providing nutrition and improving energy. His medications were 30 mg vitamin B1, 0.1gm vitamin C and mecobalamin 750 μg daily after discharge from our hospital. The patient was able to walk and talk slowly with improved writing skills and no stroke-like episodes. The neurological examination was negative and muscle tension was identified as grade V.", 'Patient concerns:': "A 12-year-old boy was admitted to Shaoxing People's Hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after treatment of unexplained fever and somnolence."}
|
Endocrinology
|
ENDO
|
[] |
6531061
|
{'Diagnoses:': 'The proband underwent a thorough examination in our hospital and was diagnosed as mitochondrial encephalomyopathy. The proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene. Although his parents did not carry the mutation.', 'Case presentation': "The proband was a 12-year-old boy on first visiting to our hospital. The proband was the first and the only child of his healthy, nonconsanguineous parents of Han Chinese descentand was born at 38 weeks gestation by spontaneous delivery. The proband had no postnatal adaptation, and the Apgar score was unknown. He was admitted to the hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after the treatment of unexplained fever and somnolence. The highest temperature was 37.8°C, accompanied by vomiting 4 to 5 times on the same day, with insufficient spirits. The study was conducted in accordance with the Declaration of Helsinki and was approved by the local ethics committee of our hospital (no. 2018021). Informed written consent was obtained from all participants prior to their enrollment in this study. The proband underwent a thorough examination in our hospital, including electroencephalogram, echocardiogram, electrocardiogram, brain magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS), physical examination, laboratory examination, and mitochondrial gene detection. Genomic DNA from the family was extracted from peripheral whole blood samples using the genomic DNA extraction kit (Qiagen) according to the manufacturer's instructions. The entire mitochondrial genomes of the family were PCR amplified in 24 overlapping fragments by using sets of the light strand and the heavy strand oligonucleotide primers, as described elsewhere. Each fragment was purified and subsequently Sanger sequencings were conducted by TSINGKE Biological Technology(Beijing, China). The resultant sequence data were compared with the revised consensus Cambridge sequence (GenBank accession no. NC-012920). His electroencephalogram showed clear increase of 4–5c/s theta waves, 2–3c/s delta waves, with a small amount of sharp waves. His brain MRI revealed abnormal signal, brain tissue swelling, and midline structure was shifted slightly to the right (Fig. 1 A). A large lactate peak and decreased N -acetylaspartate were found in this region on proton MRS (Fig. 1 B). Normal structure and ejection fraction were observed via echocardiography. Serum lactate dehydrogenase, creatine kinase, α-hydroxybutyrate dehydrogenase were significantly higher than normal, whereas creatinine, sodium, and chloride were significantly lower than normal. In the cerebrospinal fluid examination, the leucocyte count was zero, red blood cell count was 210×10 6 L, chloride was slightly lower, the protein and sugar quantifications were in normal control range. Mitochondrial sequencing revealed that the proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene, while his parents did not carry the mutation (Fig. 2 ). The patient was treated according to the diagnosis of mitochondrial encephalomyopathy. Intravenous acyclovir, ceftriaxone and dexamethasone were used for antiviral, antimicrobial, and anti-inflammatory therapy, respectively. Intravenous mannitol was gradually tapered for reducing intracranial pressure with furosemide for inducing diuresis. Intravenous arginine could help to treat alkalosis and supple some essential amino acids. Oral oxiracetam capsules, vitamin B1, and coenzyme Q10 were used for providing nutrition and improving energy. His medications were 30 mg vitamin B1, 0.1gm vitamin C and mecobalamin 750 μg daily after discharge from our hospital. The patient was able to walk and talk slowly with improved writing skills and no stroke-like episodes. The neurological examination was negative and muscle tension was identified as grade V.", 'Patient concerns:': "A 12-year-old boy was admitted to Shaoxing People's Hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after treatment of unexplained fever and somnolence."}
|
{'Diagnoses:': 'The proband underwent a thorough examination in our hospital and was diagnosed as mitochondrial encephalomyopathy. The proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene. Although his parents did not carry the mutation.', 'Case presentation': "The proband was a 12-year-old boy on first visiting to our hospital. The proband was the first and the only child of his healthy, nonconsanguineous parents of Han Chinese descentand was born at 38 weeks gestation by spontaneous delivery. The proband had no postnatal adaptation, and the Apgar score was unknown. He was admitted to the hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after the treatment of unexplained fever and somnolence. The highest temperature was 37.8°C, accompanied by vomiting 4 to 5 times on the same day, with insufficient spirits. The study was conducted in accordance with the Declaration of Helsinki and was approved by the local ethics committee of our hospital (no. 2018021). Informed written consent was obtained from all participants prior to their enrollment in this study. The proband underwent a thorough examination in our hospital, including electroencephalogram, echocardiogram, electrocardiogram, brain magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS), physical examination, laboratory examination, and mitochondrial gene detection. Genomic DNA from the family was extracted from peripheral whole blood samples using the genomic DNA extraction kit (Qiagen) according to the manufacturer's instructions. The entire mitochondrial genomes of the family were PCR amplified in 24 overlapping fragments by using sets of the light strand and the heavy strand oligonucleotide primers, as described elsewhere. Each fragment was purified and subsequently Sanger sequencings were conducted by TSINGKE Biological Technology(Beijing, China). The resultant sequence data were compared with the revised consensus Cambridge sequence (GenBank accession no. NC-012920). His electroencephalogram showed clear increase of 4–5c/s theta waves, 2–3c/s delta waves, with a small amount of sharp waves. His brain MRI revealed abnormal signal, brain tissue swelling, and midline structure was shifted slightly to the right (Fig. 1 A). A large lactate peak and decreased N -acetylaspartate were found in this region on proton MRS (Fig. 1 B). Normal structure and ejection fraction were observed via echocardiography. Serum lactate dehydrogenase, creatine kinase, α-hydroxybutyrate dehydrogenase were significantly higher than normal, whereas creatinine, sodium, and chloride were significantly lower than normal. In the cerebrospinal fluid examination, the leucocyte count was zero, red blood cell count was 210×10 6 L, chloride was slightly lower, the protein and sugar quantifications were in normal control range. Mitochondrial sequencing revealed that the proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene, while his parents did not carry the mutation (Fig. 2 ). The patient was treated according to the diagnosis of mitochondrial encephalomyopathy. Intravenous acyclovir, ceftriaxone and dexamethasone were used for antiviral, antimicrobial, and anti-inflammatory therapy, respectively. Intravenous mannitol was gradually tapered for reducing intracranial pressure with furosemide for inducing diuresis. Intravenous arginine could help to treat alkalosis and supple some essential amino acids. Oral oxiracetam capsules, vitamin B1, and coenzyme Q10 were used for providing nutrition and improving energy. His medications were 30 mg vitamin B1, 0.1gm vitamin C and mecobalamin 750 μg daily after discharge from our hospital. The patient was able to walk and talk slowly with improved writing skills and no stroke-like episodes. The neurological examination was negative and muscle tension was identified as grade V.", 'Patient concerns:': "A 12-year-old boy was admitted to Shaoxing People's Hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after treatment of unexplained fever and somnolence."}
|
Genitourinary-System
|
GU
|
[] |
6531061
|
{'Diagnoses:': 'The proband underwent a thorough examination in our hospital and was diagnosed as mitochondrial encephalomyopathy. The proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene. Although his parents did not carry the mutation.', 'Case presentation': "The proband was a 12-year-old boy on first visiting to our hospital. The proband was the first and the only child of his healthy, nonconsanguineous parents of Han Chinese descentand was born at 38 weeks gestation by spontaneous delivery. The proband had no postnatal adaptation, and the Apgar score was unknown. He was admitted to the hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after the treatment of unexplained fever and somnolence. The highest temperature was 37.8°C, accompanied by vomiting 4 to 5 times on the same day, with insufficient spirits. The study was conducted in accordance with the Declaration of Helsinki and was approved by the local ethics committee of our hospital (no. 2018021). Informed written consent was obtained from all participants prior to their enrollment in this study. The proband underwent a thorough examination in our hospital, including electroencephalogram, echocardiogram, electrocardiogram, brain magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS), physical examination, laboratory examination, and mitochondrial gene detection. Genomic DNA from the family was extracted from peripheral whole blood samples using the genomic DNA extraction kit (Qiagen) according to the manufacturer's instructions. The entire mitochondrial genomes of the family were PCR amplified in 24 overlapping fragments by using sets of the light strand and the heavy strand oligonucleotide primers, as described elsewhere. Each fragment was purified and subsequently Sanger sequencings were conducted by TSINGKE Biological Technology(Beijing, China). The resultant sequence data were compared with the revised consensus Cambridge sequence (GenBank accession no. NC-012920). His electroencephalogram showed clear increase of 4–5c/s theta waves, 2–3c/s delta waves, with a small amount of sharp waves. His brain MRI revealed abnormal signal, brain tissue swelling, and midline structure was shifted slightly to the right (Fig. 1 A). A large lactate peak and decreased N -acetylaspartate were found in this region on proton MRS (Fig. 1 B). Normal structure and ejection fraction were observed via echocardiography. Serum lactate dehydrogenase, creatine kinase, α-hydroxybutyrate dehydrogenase were significantly higher than normal, whereas creatinine, sodium, and chloride were significantly lower than normal. In the cerebrospinal fluid examination, the leucocyte count was zero, red blood cell count was 210×10 6 L, chloride was slightly lower, the protein and sugar quantifications were in normal control range. Mitochondrial sequencing revealed that the proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene, while his parents did not carry the mutation (Fig. 2 ). The patient was treated according to the diagnosis of mitochondrial encephalomyopathy. Intravenous acyclovir, ceftriaxone and dexamethasone were used for antiviral, antimicrobial, and anti-inflammatory therapy, respectively. Intravenous mannitol was gradually tapered for reducing intracranial pressure with furosemide for inducing diuresis. Intravenous arginine could help to treat alkalosis and supple some essential amino acids. Oral oxiracetam capsules, vitamin B1, and coenzyme Q10 were used for providing nutrition and improving energy. His medications were 30 mg vitamin B1, 0.1gm vitamin C and mecobalamin 750 μg daily after discharge from our hospital. The patient was able to walk and talk slowly with improved writing skills and no stroke-like episodes. The neurological examination was negative and muscle tension was identified as grade V.", 'Patient concerns:': "A 12-year-old boy was admitted to Shaoxing People's Hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after treatment of unexplained fever and somnolence."}
|
{'Diagnoses:': 'The proband underwent a thorough examination in our hospital and was diagnosed as mitochondrial encephalomyopathy. The proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene. Although his parents did not carry the mutation.', 'Case presentation': "The proband was a 12-year-old boy on first visiting to our hospital. The proband was the first and the only child of his healthy, nonconsanguineous parents of Han Chinese descentand was born at 38 weeks gestation by spontaneous delivery. The proband had no postnatal adaptation, and the Apgar score was unknown. He was admitted to the hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after the treatment of unexplained fever and somnolence. The highest temperature was 37.8°C, accompanied by vomiting 4 to 5 times on the same day, with insufficient spirits. The study was conducted in accordance with the Declaration of Helsinki and was approved by the local ethics committee of our hospital (no. 2018021). Informed written consent was obtained from all participants prior to their enrollment in this study. The proband underwent a thorough examination in our hospital, including electroencephalogram, echocardiogram, electrocardiogram, brain magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS), physical examination, laboratory examination, and mitochondrial gene detection. Genomic DNA from the family was extracted from peripheral whole blood samples using the genomic DNA extraction kit (Qiagen) according to the manufacturer's instructions. The entire mitochondrial genomes of the family were PCR amplified in 24 overlapping fragments by using sets of the light strand and the heavy strand oligonucleotide primers, as described elsewhere. Each fragment was purified and subsequently Sanger sequencings were conducted by TSINGKE Biological Technology(Beijing, China). The resultant sequence data were compared with the revised consensus Cambridge sequence (GenBank accession no. NC-012920). His electroencephalogram showed clear increase of 4–5c/s theta waves, 2–3c/s delta waves, with a small amount of sharp waves. His brain MRI revealed abnormal signal, brain tissue swelling, and midline structure was shifted slightly to the right (Fig. 1 A). A large lactate peak and decreased N -acetylaspartate were found in this region on proton MRS (Fig. 1 B). Normal structure and ejection fraction were observed via echocardiography. Serum lactate dehydrogenase, creatine kinase, α-hydroxybutyrate dehydrogenase were significantly higher than normal, whereas creatinine, sodium, and chloride were significantly lower than normal. In the cerebrospinal fluid examination, the leucocyte count was zero, red blood cell count was 210×10 6 L, chloride was slightly lower, the protein and sugar quantifications were in normal control range. Mitochondrial sequencing revealed that the proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene, while his parents did not carry the mutation (Fig. 2 ). The patient was treated according to the diagnosis of mitochondrial encephalomyopathy. Intravenous acyclovir, ceftriaxone and dexamethasone were used for antiviral, antimicrobial, and anti-inflammatory therapy, respectively. Intravenous mannitol was gradually tapered for reducing intracranial pressure with furosemide for inducing diuresis. Intravenous arginine could help to treat alkalosis and supple some essential amino acids. Oral oxiracetam capsules, vitamin B1, and coenzyme Q10 were used for providing nutrition and improving energy. His medications were 30 mg vitamin B1, 0.1gm vitamin C and mecobalamin 750 μg daily after discharge from our hospital. The patient was able to walk and talk slowly with improved writing skills and no stroke-like episodes. The neurological examination was negative and muscle tension was identified as grade V.", 'Patient concerns:': "A 12-year-old boy was admitted to Shaoxing People's Hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after treatment of unexplained fever and somnolence."}
|
Respiratory-System
|
RESP
|
[] |
6531061
|
{'Diagnoses:': 'The proband underwent a thorough examination in our hospital and was diagnosed as mitochondrial encephalomyopathy. The proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene. Although his parents did not carry the mutation.', 'Case presentation': "The proband was a 12-year-old boy on first visiting to our hospital. The proband was the first and the only child of his healthy, nonconsanguineous parents of Han Chinese descentand was born at 38 weeks gestation by spontaneous delivery. The proband had no postnatal adaptation, and the Apgar score was unknown. He was admitted to the hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after the treatment of unexplained fever and somnolence. The highest temperature was 37.8°C, accompanied by vomiting 4 to 5 times on the same day, with insufficient spirits. The study was conducted in accordance with the Declaration of Helsinki and was approved by the local ethics committee of our hospital (no. 2018021). Informed written consent was obtained from all participants prior to their enrollment in this study. The proband underwent a thorough examination in our hospital, including electroencephalogram, echocardiogram, electrocardiogram, brain magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS), physical examination, laboratory examination, and mitochondrial gene detection. Genomic DNA from the family was extracted from peripheral whole blood samples using the genomic DNA extraction kit (Qiagen) according to the manufacturer's instructions. The entire mitochondrial genomes of the family were PCR amplified in 24 overlapping fragments by using sets of the light strand and the heavy strand oligonucleotide primers, as described elsewhere. Each fragment was purified and subsequently Sanger sequencings were conducted by TSINGKE Biological Technology(Beijing, China). The resultant sequence data were compared with the revised consensus Cambridge sequence (GenBank accession no. NC-012920). His electroencephalogram showed clear increase of 4–5c/s theta waves, 2–3c/s delta waves, with a small amount of sharp waves. His brain MRI revealed abnormal signal, brain tissue swelling, and midline structure was shifted slightly to the right (Fig. 1 A). A large lactate peak and decreased N -acetylaspartate were found in this region on proton MRS (Fig. 1 B). Normal structure and ejection fraction were observed via echocardiography. Serum lactate dehydrogenase, creatine kinase, α-hydroxybutyrate dehydrogenase were significantly higher than normal, whereas creatinine, sodium, and chloride were significantly lower than normal. In the cerebrospinal fluid examination, the leucocyte count was zero, red blood cell count was 210×10 6 L, chloride was slightly lower, the protein and sugar quantifications were in normal control range. Mitochondrial sequencing revealed that the proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene, while his parents did not carry the mutation (Fig. 2 ). The patient was treated according to the diagnosis of mitochondrial encephalomyopathy. Intravenous acyclovir, ceftriaxone and dexamethasone were used for antiviral, antimicrobial, and anti-inflammatory therapy, respectively. Intravenous mannitol was gradually tapered for reducing intracranial pressure with furosemide for inducing diuresis. Intravenous arginine could help to treat alkalosis and supple some essential amino acids. Oral oxiracetam capsules, vitamin B1, and coenzyme Q10 were used for providing nutrition and improving energy. His medications were 30 mg vitamin B1, 0.1gm vitamin C and mecobalamin 750 μg daily after discharge from our hospital. The patient was able to walk and talk slowly with improved writing skills and no stroke-like episodes. The neurological examination was negative and muscle tension was identified as grade V.", 'Patient concerns:': "A 12-year-old boy was admitted to Shaoxing People's Hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after treatment of unexplained fever and somnolence."}
|
{'Diagnoses:': 'The proband underwent a thorough examination in our hospital and was diagnosed as mitochondrial encephalomyopathy. The proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene. Although his parents did not carry the mutation.', 'Case presentation': "The proband was a 12-year-old boy on first visiting to our hospital. The proband was the first and the only child of his healthy, nonconsanguineous parents of Han Chinese descentand was born at 38 weeks gestation by spontaneous delivery. The proband had no postnatal adaptation, and the Apgar score was unknown. He was admitted to the hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after the treatment of unexplained fever and somnolence. The highest temperature was 37.8°C, accompanied by vomiting 4 to 5 times on the same day, with insufficient spirits. The study was conducted in accordance with the Declaration of Helsinki and was approved by the local ethics committee of our hospital (no. 2018021). Informed written consent was obtained from all participants prior to their enrollment in this study. The proband underwent a thorough examination in our hospital, including electroencephalogram, echocardiogram, electrocardiogram, brain magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS), physical examination, laboratory examination, and mitochondrial gene detection. Genomic DNA from the family was extracted from peripheral whole blood samples using the genomic DNA extraction kit (Qiagen) according to the manufacturer's instructions. The entire mitochondrial genomes of the family were PCR amplified in 24 overlapping fragments by using sets of the light strand and the heavy strand oligonucleotide primers, as described elsewhere. Each fragment was purified and subsequently Sanger sequencings were conducted by TSINGKE Biological Technology(Beijing, China). The resultant sequence data were compared with the revised consensus Cambridge sequence (GenBank accession no. NC-012920). His electroencephalogram showed clear increase of 4–5c/s theta waves, 2–3c/s delta waves, with a small amount of sharp waves. His brain MRI revealed abnormal signal, brain tissue swelling, and midline structure was shifted slightly to the right (Fig. 1 A). A large lactate peak and decreased N -acetylaspartate were found in this region on proton MRS (Fig. 1 B). Normal structure and ejection fraction were observed via echocardiography. Serum lactate dehydrogenase, creatine kinase, α-hydroxybutyrate dehydrogenase were significantly higher than normal, whereas creatinine, sodium, and chloride were significantly lower than normal. In the cerebrospinal fluid examination, the leucocyte count was zero, red blood cell count was 210×10 6 L, chloride was slightly lower, the protein and sugar quantifications were in normal control range. Mitochondrial sequencing revealed that the proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene, while his parents did not carry the mutation (Fig. 2 ). The patient was treated according to the diagnosis of mitochondrial encephalomyopathy. Intravenous acyclovir, ceftriaxone and dexamethasone were used for antiviral, antimicrobial, and anti-inflammatory therapy, respectively. Intravenous mannitol was gradually tapered for reducing intracranial pressure with furosemide for inducing diuresis. Intravenous arginine could help to treat alkalosis and supple some essential amino acids. Oral oxiracetam capsules, vitamin B1, and coenzyme Q10 were used for providing nutrition and improving energy. His medications were 30 mg vitamin B1, 0.1gm vitamin C and mecobalamin 750 μg daily after discharge from our hospital. The patient was able to walk and talk slowly with improved writing skills and no stroke-like episodes. The neurological examination was negative and muscle tension was identified as grade V.", 'Patient concerns:': "A 12-year-old boy was admitted to Shaoxing People's Hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after treatment of unexplained fever and somnolence."}
|
Musculoskeletal-System
|
MSK
|
[
"muscle tension was identified as grade V."
] |
6531061
|
{'Diagnoses:': 'The proband underwent a thorough examination in our hospital and was diagnosed as mitochondrial encephalomyopathy. The proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene. Although his parents did not carry the mutation.', 'Case presentation': "The proband was a 12-year-old boy on first visiting to our hospital. The proband was the first and the only child of his healthy, nonconsanguineous parents of Han Chinese descentand was born at 38 weeks gestation by spontaneous delivery. The proband had no postnatal adaptation, and the Apgar score was unknown. He was admitted to the hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after the treatment of unexplained fever and somnolence. The highest temperature was 37.8°C, accompanied by vomiting 4 to 5 times on the same day, with insufficient spirits. The study was conducted in accordance with the Declaration of Helsinki and was approved by the local ethics committee of our hospital (no. 2018021). Informed written consent was obtained from all participants prior to their enrollment in this study. The proband underwent a thorough examination in our hospital, including electroencephalogram, echocardiogram, electrocardiogram, brain magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS), physical examination, laboratory examination, and mitochondrial gene detection. Genomic DNA from the family was extracted from peripheral whole blood samples using the genomic DNA extraction kit (Qiagen) according to the manufacturer's instructions. The entire mitochondrial genomes of the family were PCR amplified in 24 overlapping fragments by using sets of the light strand and the heavy strand oligonucleotide primers, as described elsewhere. Each fragment was purified and subsequently Sanger sequencings were conducted by TSINGKE Biological Technology(Beijing, China). The resultant sequence data were compared with the revised consensus Cambridge sequence (GenBank accession no. NC-012920). His electroencephalogram showed clear increase of 4–5c/s theta waves, 2–3c/s delta waves, with a small amount of sharp waves. His brain MRI revealed abnormal signal, brain tissue swelling, and midline structure was shifted slightly to the right (Fig. 1 A). A large lactate peak and decreased N -acetylaspartate were found in this region on proton MRS (Fig. 1 B). Normal structure and ejection fraction were observed via echocardiography. Serum lactate dehydrogenase, creatine kinase, α-hydroxybutyrate dehydrogenase were significantly higher than normal, whereas creatinine, sodium, and chloride were significantly lower than normal. In the cerebrospinal fluid examination, the leucocyte count was zero, red blood cell count was 210×10 6 L, chloride was slightly lower, the protein and sugar quantifications were in normal control range. Mitochondrial sequencing revealed that the proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene, while his parents did not carry the mutation (Fig. 2 ). The patient was treated according to the diagnosis of mitochondrial encephalomyopathy. Intravenous acyclovir, ceftriaxone and dexamethasone were used for antiviral, antimicrobial, and anti-inflammatory therapy, respectively. Intravenous mannitol was gradually tapered for reducing intracranial pressure with furosemide for inducing diuresis. Intravenous arginine could help to treat alkalosis and supple some essential amino acids. Oral oxiracetam capsules, vitamin B1, and coenzyme Q10 were used for providing nutrition and improving energy. His medications were 30 mg vitamin B1, 0.1gm vitamin C and mecobalamin 750 μg daily after discharge from our hospital. The patient was able to walk and talk slowly with improved writing skills and no stroke-like episodes. The neurological examination was negative and muscle tension was identified as grade V.", 'Patient concerns:': "A 12-year-old boy was admitted to Shaoxing People's Hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after treatment of unexplained fever and somnolence."}
|
{'Diagnoses:': 'The proband underwent a thorough examination in our hospital and was diagnosed as mitochondrial encephalomyopathy. The proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene. Although his parents did not carry the mutation.', 'Case presentation': "The proband was a 12-year-old boy on first visiting to our hospital. The proband was the first and the only child of his healthy, nonconsanguineous parents of Han Chinese descentand was born at 38 weeks gestation by spontaneous delivery. The proband had no postnatal adaptation, and the Apgar score was unknown. He was admitted to the hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after the treatment of unexplained fever and somnolence. The highest temperature was 37.8°C, accompanied by vomiting 4 to 5 times on the same day, with insufficient spirits. The study was conducted in accordance with the Declaration of Helsinki and was approved by the local ethics committee of our hospital (no. 2018021). Informed written consent was obtained from all participants prior to their enrollment in this study. The proband underwent a thorough examination in our hospital, including electroencephalogram, echocardiogram, electrocardiogram, brain magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS), physical examination, laboratory examination, and mitochondrial gene detection. Genomic DNA from the family was extracted from peripheral whole blood samples using the genomic DNA extraction kit (Qiagen) according to the manufacturer's instructions. The entire mitochondrial genomes of the family were PCR amplified in 24 overlapping fragments by using sets of the light strand and the heavy strand oligonucleotide primers, as described elsewhere. Each fragment was purified and subsequently Sanger sequencings were conducted by TSINGKE Biological Technology(Beijing, China). The resultant sequence data were compared with the revised consensus Cambridge sequence (GenBank accession no. NC-012920). His electroencephalogram showed clear increase of 4–5c/s theta waves, 2–3c/s delta waves, with a small amount of sharp waves. His brain MRI revealed abnormal signal, brain tissue swelling, and midline structure was shifted slightly to the right (Fig. 1 A). A large lactate peak and decreased N -acetylaspartate were found in this region on proton MRS (Fig. 1 B). Normal structure and ejection fraction were observed via echocardiography. Serum lactate dehydrogenase, creatine kinase, α-hydroxybutyrate dehydrogenase were significantly higher than normal, whereas creatinine, sodium, and chloride were significantly lower than normal. In the cerebrospinal fluid examination, the leucocyte count was zero, red blood cell count was 210×10 6 L, chloride was slightly lower, the protein and sugar quantifications were in normal control range. Mitochondrial sequencing revealed that the proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene, while his parents did not carry the mutation (Fig. 2 ). The patient was treated according to the diagnosis of mitochondrial encephalomyopathy. Intravenous acyclovir, ceftriaxone and dexamethasone were used for antiviral, antimicrobial, and anti-inflammatory therapy, respectively. Intravenous mannitol was gradually tapered for reducing intracranial pressure with furosemide for inducing diuresis. Intravenous arginine could help to treat alkalosis and supple some essential amino acids. Oral oxiracetam capsules, vitamin B1, and coenzyme Q10 were used for providing nutrition and improving energy. His medications were 30 mg vitamin B1, 0.1gm vitamin C and mecobalamin 750 μg daily after discharge from our hospital. The patient was able to walk and talk slowly with improved writing skills and no stroke-like episodes. The neurological examination was negative and muscle tension was identified as grade V.", 'Patient concerns:': "A 12-year-old boy was admitted to Shaoxing People's Hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after treatment of unexplained fever and somnolence."}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[] |
6531061
|
{'Diagnoses:': 'The proband underwent a thorough examination in our hospital and was diagnosed as mitochondrial encephalomyopathy. The proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene. Although his parents did not carry the mutation.', 'Case presentation': "The proband was a 12-year-old boy on first visiting to our hospital. The proband was the first and the only child of his healthy, nonconsanguineous parents of Han Chinese descentand was born at 38 weeks gestation by spontaneous delivery. The proband had no postnatal adaptation, and the Apgar score was unknown. He was admitted to the hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after the treatment of unexplained fever and somnolence. The highest temperature was 37.8°C, accompanied by vomiting 4 to 5 times on the same day, with insufficient spirits. The study was conducted in accordance with the Declaration of Helsinki and was approved by the local ethics committee of our hospital (no. 2018021). Informed written consent was obtained from all participants prior to their enrollment in this study. The proband underwent a thorough examination in our hospital, including electroencephalogram, echocardiogram, electrocardiogram, brain magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS), physical examination, laboratory examination, and mitochondrial gene detection. Genomic DNA from the family was extracted from peripheral whole blood samples using the genomic DNA extraction kit (Qiagen) according to the manufacturer's instructions. The entire mitochondrial genomes of the family were PCR amplified in 24 overlapping fragments by using sets of the light strand and the heavy strand oligonucleotide primers, as described elsewhere. Each fragment was purified and subsequently Sanger sequencings were conducted by TSINGKE Biological Technology(Beijing, China). The resultant sequence data were compared with the revised consensus Cambridge sequence (GenBank accession no. NC-012920). His electroencephalogram showed clear increase of 4–5c/s theta waves, 2–3c/s delta waves, with a small amount of sharp waves. His brain MRI revealed abnormal signal, brain tissue swelling, and midline structure was shifted slightly to the right (Fig. 1 A). A large lactate peak and decreased N -acetylaspartate were found in this region on proton MRS (Fig. 1 B). Normal structure and ejection fraction were observed via echocardiography. Serum lactate dehydrogenase, creatine kinase, α-hydroxybutyrate dehydrogenase were significantly higher than normal, whereas creatinine, sodium, and chloride were significantly lower than normal. In the cerebrospinal fluid examination, the leucocyte count was zero, red blood cell count was 210×10 6 L, chloride was slightly lower, the protein and sugar quantifications were in normal control range. Mitochondrial sequencing revealed that the proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene, while his parents did not carry the mutation (Fig. 2 ). The patient was treated according to the diagnosis of mitochondrial encephalomyopathy. Intravenous acyclovir, ceftriaxone and dexamethasone were used for antiviral, antimicrobial, and anti-inflammatory therapy, respectively. Intravenous mannitol was gradually tapered for reducing intracranial pressure with furosemide for inducing diuresis. Intravenous arginine could help to treat alkalosis and supple some essential amino acids. Oral oxiracetam capsules, vitamin B1, and coenzyme Q10 were used for providing nutrition and improving energy. His medications were 30 mg vitamin B1, 0.1gm vitamin C and mecobalamin 750 μg daily after discharge from our hospital. The patient was able to walk and talk slowly with improved writing skills and no stroke-like episodes. The neurological examination was negative and muscle tension was identified as grade V.", 'Patient concerns:': "A 12-year-old boy was admitted to Shaoxing People's Hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after treatment of unexplained fever and somnolence."}
|
{'Diagnoses:': 'The proband underwent a thorough examination in our hospital and was diagnosed as mitochondrial encephalomyopathy. The proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene. Although his parents did not carry the mutation.', 'Case presentation': "The proband was a 12-year-old boy on first visiting to our hospital. The proband was the first and the only child of his healthy, nonconsanguineous parents of Han Chinese descentand was born at 38 weeks gestation by spontaneous delivery. The proband had no postnatal adaptation, and the Apgar score was unknown. He was admitted to the hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after the treatment of unexplained fever and somnolence. The highest temperature was 37.8°C, accompanied by vomiting 4 to 5 times on the same day, with insufficient spirits. The study was conducted in accordance with the Declaration of Helsinki and was approved by the local ethics committee of our hospital (no. 2018021). Informed written consent was obtained from all participants prior to their enrollment in this study. The proband underwent a thorough examination in our hospital, including electroencephalogram, echocardiogram, electrocardiogram, brain magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS), physical examination, laboratory examination, and mitochondrial gene detection. Genomic DNA from the family was extracted from peripheral whole blood samples using the genomic DNA extraction kit (Qiagen) according to the manufacturer's instructions. The entire mitochondrial genomes of the family were PCR amplified in 24 overlapping fragments by using sets of the light strand and the heavy strand oligonucleotide primers, as described elsewhere. Each fragment was purified and subsequently Sanger sequencings were conducted by TSINGKE Biological Technology(Beijing, China). The resultant sequence data were compared with the revised consensus Cambridge sequence (GenBank accession no. NC-012920). His electroencephalogram showed clear increase of 4–5c/s theta waves, 2–3c/s delta waves, with a small amount of sharp waves. His brain MRI revealed abnormal signal, brain tissue swelling, and midline structure was shifted slightly to the right (Fig. 1 A). A large lactate peak and decreased N -acetylaspartate were found in this region on proton MRS (Fig. 1 B). Normal structure and ejection fraction were observed via echocardiography. Serum lactate dehydrogenase, creatine kinase, α-hydroxybutyrate dehydrogenase were significantly higher than normal, whereas creatinine, sodium, and chloride were significantly lower than normal. In the cerebrospinal fluid examination, the leucocyte count was zero, red blood cell count was 210×10 6 L, chloride was slightly lower, the protein and sugar quantifications were in normal control range. Mitochondrial sequencing revealed that the proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene, while his parents did not carry the mutation (Fig. 2 ). The patient was treated according to the diagnosis of mitochondrial encephalomyopathy. Intravenous acyclovir, ceftriaxone and dexamethasone were used for antiviral, antimicrobial, and anti-inflammatory therapy, respectively. Intravenous mannitol was gradually tapered for reducing intracranial pressure with furosemide for inducing diuresis. Intravenous arginine could help to treat alkalosis and supple some essential amino acids. Oral oxiracetam capsules, vitamin B1, and coenzyme Q10 were used for providing nutrition and improving energy. His medications were 30 mg vitamin B1, 0.1gm vitamin C and mecobalamin 750 μg daily after discharge from our hospital. The patient was able to walk and talk slowly with improved writing skills and no stroke-like episodes. The neurological examination was negative and muscle tension was identified as grade V.", 'Patient concerns:': "A 12-year-old boy was admitted to Shaoxing People's Hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after treatment of unexplained fever and somnolence."}
|
Dermatology
|
DERM
|
[] |
6531061
|
{'Diagnoses:': 'The proband underwent a thorough examination in our hospital and was diagnosed as mitochondrial encephalomyopathy. The proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene. Although his parents did not carry the mutation.', 'Case presentation': "The proband was a 12-year-old boy on first visiting to our hospital. The proband was the first and the only child of his healthy, nonconsanguineous parents of Han Chinese descentand was born at 38 weeks gestation by spontaneous delivery. The proband had no postnatal adaptation, and the Apgar score was unknown. He was admitted to the hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after the treatment of unexplained fever and somnolence. The highest temperature was 37.8°C, accompanied by vomiting 4 to 5 times on the same day, with insufficient spirits. The study was conducted in accordance with the Declaration of Helsinki and was approved by the local ethics committee of our hospital (no. 2018021). Informed written consent was obtained from all participants prior to their enrollment in this study. The proband underwent a thorough examination in our hospital, including electroencephalogram, echocardiogram, electrocardiogram, brain magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS), physical examination, laboratory examination, and mitochondrial gene detection. Genomic DNA from the family was extracted from peripheral whole blood samples using the genomic DNA extraction kit (Qiagen) according to the manufacturer's instructions. The entire mitochondrial genomes of the family were PCR amplified in 24 overlapping fragments by using sets of the light strand and the heavy strand oligonucleotide primers, as described elsewhere. Each fragment was purified and subsequently Sanger sequencings were conducted by TSINGKE Biological Technology(Beijing, China). The resultant sequence data were compared with the revised consensus Cambridge sequence (GenBank accession no. NC-012920). His electroencephalogram showed clear increase of 4–5c/s theta waves, 2–3c/s delta waves, with a small amount of sharp waves. His brain MRI revealed abnormal signal, brain tissue swelling, and midline structure was shifted slightly to the right (Fig. 1 A). A large lactate peak and decreased N -acetylaspartate were found in this region on proton MRS (Fig. 1 B). Normal structure and ejection fraction were observed via echocardiography. Serum lactate dehydrogenase, creatine kinase, α-hydroxybutyrate dehydrogenase were significantly higher than normal, whereas creatinine, sodium, and chloride were significantly lower than normal. In the cerebrospinal fluid examination, the leucocyte count was zero, red blood cell count was 210×10 6 L, chloride was slightly lower, the protein and sugar quantifications were in normal control range. Mitochondrial sequencing revealed that the proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene, while his parents did not carry the mutation (Fig. 2 ). The patient was treated according to the diagnosis of mitochondrial encephalomyopathy. Intravenous acyclovir, ceftriaxone and dexamethasone were used for antiviral, antimicrobial, and anti-inflammatory therapy, respectively. Intravenous mannitol was gradually tapered for reducing intracranial pressure with furosemide for inducing diuresis. Intravenous arginine could help to treat alkalosis and supple some essential amino acids. Oral oxiracetam capsules, vitamin B1, and coenzyme Q10 were used for providing nutrition and improving energy. His medications were 30 mg vitamin B1, 0.1gm vitamin C and mecobalamin 750 μg daily after discharge from our hospital. The patient was able to walk and talk slowly with improved writing skills and no stroke-like episodes. The neurological examination was negative and muscle tension was identified as grade V.", 'Patient concerns:': "A 12-year-old boy was admitted to Shaoxing People's Hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after treatment of unexplained fever and somnolence."}
|
{'Diagnoses:': 'The proband underwent a thorough examination in our hospital and was diagnosed as mitochondrial encephalomyopathy. The proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene. Although his parents did not carry the mutation.', 'Case presentation': "The proband was a 12-year-old boy on first visiting to our hospital. The proband was the first and the only child of his healthy, nonconsanguineous parents of Han Chinese descentand was born at 38 weeks gestation by spontaneous delivery. The proband had no postnatal adaptation, and the Apgar score was unknown. He was admitted to the hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after the treatment of unexplained fever and somnolence. The highest temperature was 37.8°C, accompanied by vomiting 4 to 5 times on the same day, with insufficient spirits. The study was conducted in accordance with the Declaration of Helsinki and was approved by the local ethics committee of our hospital (no. 2018021). Informed written consent was obtained from all participants prior to their enrollment in this study. The proband underwent a thorough examination in our hospital, including electroencephalogram, echocardiogram, electrocardiogram, brain magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS), physical examination, laboratory examination, and mitochondrial gene detection. Genomic DNA from the family was extracted from peripheral whole blood samples using the genomic DNA extraction kit (Qiagen) according to the manufacturer's instructions. The entire mitochondrial genomes of the family were PCR amplified in 24 overlapping fragments by using sets of the light strand and the heavy strand oligonucleotide primers, as described elsewhere. Each fragment was purified and subsequently Sanger sequencings were conducted by TSINGKE Biological Technology(Beijing, China). The resultant sequence data were compared with the revised consensus Cambridge sequence (GenBank accession no. NC-012920). His electroencephalogram showed clear increase of 4–5c/s theta waves, 2–3c/s delta waves, with a small amount of sharp waves. His brain MRI revealed abnormal signal, brain tissue swelling, and midline structure was shifted slightly to the right (Fig. 1 A). A large lactate peak and decreased N -acetylaspartate were found in this region on proton MRS (Fig. 1 B). Normal structure and ejection fraction were observed via echocardiography. Serum lactate dehydrogenase, creatine kinase, α-hydroxybutyrate dehydrogenase were significantly higher than normal, whereas creatinine, sodium, and chloride were significantly lower than normal. In the cerebrospinal fluid examination, the leucocyte count was zero, red blood cell count was 210×10 6 L, chloride was slightly lower, the protein and sugar quantifications were in normal control range. Mitochondrial sequencing revealed that the proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene, while his parents did not carry the mutation (Fig. 2 ). The patient was treated according to the diagnosis of mitochondrial encephalomyopathy. Intravenous acyclovir, ceftriaxone and dexamethasone were used for antiviral, antimicrobial, and anti-inflammatory therapy, respectively. Intravenous mannitol was gradually tapered for reducing intracranial pressure with furosemide for inducing diuresis. Intravenous arginine could help to treat alkalosis and supple some essential amino acids. Oral oxiracetam capsules, vitamin B1, and coenzyme Q10 were used for providing nutrition and improving energy. His medications were 30 mg vitamin B1, 0.1gm vitamin C and mecobalamin 750 μg daily after discharge from our hospital. The patient was able to walk and talk slowly with improved writing skills and no stroke-like episodes. The neurological examination was negative and muscle tension was identified as grade V.", 'Patient concerns:': "A 12-year-old boy was admitted to Shaoxing People's Hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after treatment of unexplained fever and somnolence."}
|
Pregnancy
|
Pregnancy
|
[
"born at 38 weeks gestation by spontaneous delivery",
"had no postnatal adaptation"
] |
6531061
|
{'Diagnoses:': 'The proband underwent a thorough examination in our hospital and was diagnosed as mitochondrial encephalomyopathy. The proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene. Although his parents did not carry the mutation.', 'Case presentation': "The proband was a 12-year-old boy on first visiting to our hospital. The proband was the first and the only child of his healthy, nonconsanguineous parents of Han Chinese descentand was born at 38 weeks gestation by spontaneous delivery. The proband had no postnatal adaptation, and the Apgar score was unknown. He was admitted to the hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after the treatment of unexplained fever and somnolence. The highest temperature was 37.8°C, accompanied by vomiting 4 to 5 times on the same day, with insufficient spirits. The study was conducted in accordance with the Declaration of Helsinki and was approved by the local ethics committee of our hospital (no. 2018021). Informed written consent was obtained from all participants prior to their enrollment in this study. The proband underwent a thorough examination in our hospital, including electroencephalogram, echocardiogram, electrocardiogram, brain magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS), physical examination, laboratory examination, and mitochondrial gene detection. Genomic DNA from the family was extracted from peripheral whole blood samples using the genomic DNA extraction kit (Qiagen) according to the manufacturer's instructions. The entire mitochondrial genomes of the family were PCR amplified in 24 overlapping fragments by using sets of the light strand and the heavy strand oligonucleotide primers, as described elsewhere. Each fragment was purified and subsequently Sanger sequencings were conducted by TSINGKE Biological Technology(Beijing, China). The resultant sequence data were compared with the revised consensus Cambridge sequence (GenBank accession no. NC-012920). His electroencephalogram showed clear increase of 4–5c/s theta waves, 2–3c/s delta waves, with a small amount of sharp waves. His brain MRI revealed abnormal signal, brain tissue swelling, and midline structure was shifted slightly to the right (Fig. 1 A). A large lactate peak and decreased N -acetylaspartate were found in this region on proton MRS (Fig. 1 B). Normal structure and ejection fraction were observed via echocardiography. Serum lactate dehydrogenase, creatine kinase, α-hydroxybutyrate dehydrogenase were significantly higher than normal, whereas creatinine, sodium, and chloride were significantly lower than normal. In the cerebrospinal fluid examination, the leucocyte count was zero, red blood cell count was 210×10 6 L, chloride was slightly lower, the protein and sugar quantifications were in normal control range. Mitochondrial sequencing revealed that the proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene, while his parents did not carry the mutation (Fig. 2 ). The patient was treated according to the diagnosis of mitochondrial encephalomyopathy. Intravenous acyclovir, ceftriaxone and dexamethasone were used for antiviral, antimicrobial, and anti-inflammatory therapy, respectively. Intravenous mannitol was gradually tapered for reducing intracranial pressure with furosemide for inducing diuresis. Intravenous arginine could help to treat alkalosis and supple some essential amino acids. Oral oxiracetam capsules, vitamin B1, and coenzyme Q10 were used for providing nutrition and improving energy. His medications were 30 mg vitamin B1, 0.1gm vitamin C and mecobalamin 750 μg daily after discharge from our hospital. The patient was able to walk and talk slowly with improved writing skills and no stroke-like episodes. The neurological examination was negative and muscle tension was identified as grade V.", 'Patient concerns:': "A 12-year-old boy was admitted to Shaoxing People's Hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after treatment of unexplained fever and somnolence."}
|
{'Diagnoses:': 'The proband underwent a thorough examination in our hospital and was diagnosed as mitochondrial encephalomyopathy. The proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene. Although his parents did not carry the mutation.', 'Case presentation': "The proband was a 12-year-old boy on first visiting to our hospital. The proband was the first and the only child of his healthy, nonconsanguineous parents of Han Chinese descentand was born at 38 weeks gestation by spontaneous delivery. The proband had no postnatal adaptation, and the Apgar score was unknown. He was admitted to the hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after the treatment of unexplained fever and somnolence. The highest temperature was 37.8°C, accompanied by vomiting 4 to 5 times on the same day, with insufficient spirits. The study was conducted in accordance with the Declaration of Helsinki and was approved by the local ethics committee of our hospital (no. 2018021). Informed written consent was obtained from all participants prior to their enrollment in this study. The proband underwent a thorough examination in our hospital, including electroencephalogram, echocardiogram, electrocardiogram, brain magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS), physical examination, laboratory examination, and mitochondrial gene detection. Genomic DNA from the family was extracted from peripheral whole blood samples using the genomic DNA extraction kit (Qiagen) according to the manufacturer's instructions. The entire mitochondrial genomes of the family were PCR amplified in 24 overlapping fragments by using sets of the light strand and the heavy strand oligonucleotide primers, as described elsewhere. Each fragment was purified and subsequently Sanger sequencings were conducted by TSINGKE Biological Technology(Beijing, China). The resultant sequence data were compared with the revised consensus Cambridge sequence (GenBank accession no. NC-012920). His electroencephalogram showed clear increase of 4–5c/s theta waves, 2–3c/s delta waves, with a small amount of sharp waves. His brain MRI revealed abnormal signal, brain tissue swelling, and midline structure was shifted slightly to the right (Fig. 1 A). A large lactate peak and decreased N -acetylaspartate were found in this region on proton MRS (Fig. 1 B). Normal structure and ejection fraction were observed via echocardiography. Serum lactate dehydrogenase, creatine kinase, α-hydroxybutyrate dehydrogenase were significantly higher than normal, whereas creatinine, sodium, and chloride were significantly lower than normal. In the cerebrospinal fluid examination, the leucocyte count was zero, red blood cell count was 210×10 6 L, chloride was slightly lower, the protein and sugar quantifications were in normal control range. Mitochondrial sequencing revealed that the proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene, while his parents did not carry the mutation (Fig. 2 ). The patient was treated according to the diagnosis of mitochondrial encephalomyopathy. Intravenous acyclovir, ceftriaxone and dexamethasone were used for antiviral, antimicrobial, and anti-inflammatory therapy, respectively. Intravenous mannitol was gradually tapered for reducing intracranial pressure with furosemide for inducing diuresis. Intravenous arginine could help to treat alkalosis and supple some essential amino acids. Oral oxiracetam capsules, vitamin B1, and coenzyme Q10 were used for providing nutrition and improving energy. His medications were 30 mg vitamin B1, 0.1gm vitamin C and mecobalamin 750 μg daily after discharge from our hospital. The patient was able to walk and talk slowly with improved writing skills and no stroke-like episodes. The neurological examination was negative and muscle tension was identified as grade V.", 'Patient concerns:': "A 12-year-old boy was admitted to Shaoxing People's Hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after treatment of unexplained fever and somnolence."}
|
Lymphatic-System
|
LYMPH
|
[] |
6531061
|
{'Diagnoses:': 'The proband underwent a thorough examination in our hospital and was diagnosed as mitochondrial encephalomyopathy. The proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene. Although his parents did not carry the mutation.', 'Case presentation': "The proband was a 12-year-old boy on first visiting to our hospital. The proband was the first and the only child of his healthy, nonconsanguineous parents of Han Chinese descentand was born at 38 weeks gestation by spontaneous delivery. The proband had no postnatal adaptation, and the Apgar score was unknown. He was admitted to the hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after the treatment of unexplained fever and somnolence. The highest temperature was 37.8°C, accompanied by vomiting 4 to 5 times on the same day, with insufficient spirits. The study was conducted in accordance with the Declaration of Helsinki and was approved by the local ethics committee of our hospital (no. 2018021). Informed written consent was obtained from all participants prior to their enrollment in this study. The proband underwent a thorough examination in our hospital, including electroencephalogram, echocardiogram, electrocardiogram, brain magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS), physical examination, laboratory examination, and mitochondrial gene detection. Genomic DNA from the family was extracted from peripheral whole blood samples using the genomic DNA extraction kit (Qiagen) according to the manufacturer's instructions. The entire mitochondrial genomes of the family were PCR amplified in 24 overlapping fragments by using sets of the light strand and the heavy strand oligonucleotide primers, as described elsewhere. Each fragment was purified and subsequently Sanger sequencings were conducted by TSINGKE Biological Technology(Beijing, China). The resultant sequence data were compared with the revised consensus Cambridge sequence (GenBank accession no. NC-012920). His electroencephalogram showed clear increase of 4–5c/s theta waves, 2–3c/s delta waves, with a small amount of sharp waves. His brain MRI revealed abnormal signal, brain tissue swelling, and midline structure was shifted slightly to the right (Fig. 1 A). A large lactate peak and decreased N -acetylaspartate were found in this region on proton MRS (Fig. 1 B). Normal structure and ejection fraction were observed via echocardiography. Serum lactate dehydrogenase, creatine kinase, α-hydroxybutyrate dehydrogenase were significantly higher than normal, whereas creatinine, sodium, and chloride were significantly lower than normal. In the cerebrospinal fluid examination, the leucocyte count was zero, red blood cell count was 210×10 6 L, chloride was slightly lower, the protein and sugar quantifications were in normal control range. Mitochondrial sequencing revealed that the proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene, while his parents did not carry the mutation (Fig. 2 ). The patient was treated according to the diagnosis of mitochondrial encephalomyopathy. Intravenous acyclovir, ceftriaxone and dexamethasone were used for antiviral, antimicrobial, and anti-inflammatory therapy, respectively. Intravenous mannitol was gradually tapered for reducing intracranial pressure with furosemide for inducing diuresis. Intravenous arginine could help to treat alkalosis and supple some essential amino acids. Oral oxiracetam capsules, vitamin B1, and coenzyme Q10 were used for providing nutrition and improving energy. His medications were 30 mg vitamin B1, 0.1gm vitamin C and mecobalamin 750 μg daily after discharge from our hospital. The patient was able to walk and talk slowly with improved writing skills and no stroke-like episodes. The neurological examination was negative and muscle tension was identified as grade V.", 'Patient concerns:': "A 12-year-old boy was admitted to Shaoxing People's Hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after treatment of unexplained fever and somnolence."}
|
{'Diagnoses:': 'The proband underwent a thorough examination in our hospital and was diagnosed as mitochondrial encephalomyopathy. The proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene. Although his parents did not carry the mutation.', 'Case presentation': "The proband was a 12-year-old boy on first visiting to our hospital. The proband was the first and the only child of his healthy, nonconsanguineous parents of Han Chinese descentand was born at 38 weeks gestation by spontaneous delivery. The proband had no postnatal adaptation, and the Apgar score was unknown. He was admitted to the hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after the treatment of unexplained fever and somnolence. The highest temperature was 37.8°C, accompanied by vomiting 4 to 5 times on the same day, with insufficient spirits. The study was conducted in accordance with the Declaration of Helsinki and was approved by the local ethics committee of our hospital (no. 2018021). Informed written consent was obtained from all participants prior to their enrollment in this study. The proband underwent a thorough examination in our hospital, including electroencephalogram, echocardiogram, electrocardiogram, brain magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS), physical examination, laboratory examination, and mitochondrial gene detection. Genomic DNA from the family was extracted from peripheral whole blood samples using the genomic DNA extraction kit (Qiagen) according to the manufacturer's instructions. The entire mitochondrial genomes of the family were PCR amplified in 24 overlapping fragments by using sets of the light strand and the heavy strand oligonucleotide primers, as described elsewhere. Each fragment was purified and subsequently Sanger sequencings were conducted by TSINGKE Biological Technology(Beijing, China). The resultant sequence data were compared with the revised consensus Cambridge sequence (GenBank accession no. NC-012920). His electroencephalogram showed clear increase of 4–5c/s theta waves, 2–3c/s delta waves, with a small amount of sharp waves. His brain MRI revealed abnormal signal, brain tissue swelling, and midline structure was shifted slightly to the right (Fig. 1 A). A large lactate peak and decreased N -acetylaspartate were found in this region on proton MRS (Fig. 1 B). Normal structure and ejection fraction were observed via echocardiography. Serum lactate dehydrogenase, creatine kinase, α-hydroxybutyrate dehydrogenase were significantly higher than normal, whereas creatinine, sodium, and chloride were significantly lower than normal. In the cerebrospinal fluid examination, the leucocyte count was zero, red blood cell count was 210×10 6 L, chloride was slightly lower, the protein and sugar quantifications were in normal control range. Mitochondrial sequencing revealed that the proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene, while his parents did not carry the mutation (Fig. 2 ). The patient was treated according to the diagnosis of mitochondrial encephalomyopathy. Intravenous acyclovir, ceftriaxone and dexamethasone were used for antiviral, antimicrobial, and anti-inflammatory therapy, respectively. Intravenous mannitol was gradually tapered for reducing intracranial pressure with furosemide for inducing diuresis. Intravenous arginine could help to treat alkalosis and supple some essential amino acids. Oral oxiracetam capsules, vitamin B1, and coenzyme Q10 were used for providing nutrition and improving energy. His medications were 30 mg vitamin B1, 0.1gm vitamin C and mecobalamin 750 μg daily after discharge from our hospital. The patient was able to walk and talk slowly with improved writing skills and no stroke-like episodes. The neurological examination was negative and muscle tension was identified as grade V.", 'Patient concerns:': "A 12-year-old boy was admitted to Shaoxing People's Hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after treatment of unexplained fever and somnolence."}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"12 - year - old",
"12 - year - old"
] |
6531061
|
{'Diagnoses:': 'The proband underwent a thorough examination in our hospital and was diagnosed as mitochondrial encephalomyopathy. The proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene. Although his parents did not carry the mutation.', 'Case presentation': "The proband was a 12-year-old boy on first visiting to our hospital. The proband was the first and the only child of his healthy, nonconsanguineous parents of Han Chinese descentand was born at 38 weeks gestation by spontaneous delivery. The proband had no postnatal adaptation, and the Apgar score was unknown. He was admitted to the hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after the treatment of unexplained fever and somnolence. The highest temperature was 37.8°C, accompanied by vomiting 4 to 5 times on the same day, with insufficient spirits. The study was conducted in accordance with the Declaration of Helsinki and was approved by the local ethics committee of our hospital (no. 2018021). Informed written consent was obtained from all participants prior to their enrollment in this study. The proband underwent a thorough examination in our hospital, including electroencephalogram, echocardiogram, electrocardiogram, brain magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS), physical examination, laboratory examination, and mitochondrial gene detection. Genomic DNA from the family was extracted from peripheral whole blood samples using the genomic DNA extraction kit (Qiagen) according to the manufacturer's instructions. The entire mitochondrial genomes of the family were PCR amplified in 24 overlapping fragments by using sets of the light strand and the heavy strand oligonucleotide primers, as described elsewhere. Each fragment was purified and subsequently Sanger sequencings were conducted by TSINGKE Biological Technology(Beijing, China). The resultant sequence data were compared with the revised consensus Cambridge sequence (GenBank accession no. NC-012920). His electroencephalogram showed clear increase of 4–5c/s theta waves, 2–3c/s delta waves, with a small amount of sharp waves. His brain MRI revealed abnormal signal, brain tissue swelling, and midline structure was shifted slightly to the right (Fig. 1 A). A large lactate peak and decreased N -acetylaspartate were found in this region on proton MRS (Fig. 1 B). Normal structure and ejection fraction were observed via echocardiography. Serum lactate dehydrogenase, creatine kinase, α-hydroxybutyrate dehydrogenase were significantly higher than normal, whereas creatinine, sodium, and chloride were significantly lower than normal. In the cerebrospinal fluid examination, the leucocyte count was zero, red blood cell count was 210×10 6 L, chloride was slightly lower, the protein and sugar quantifications were in normal control range. Mitochondrial sequencing revealed that the proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene, while his parents did not carry the mutation (Fig. 2 ). The patient was treated according to the diagnosis of mitochondrial encephalomyopathy. Intravenous acyclovir, ceftriaxone and dexamethasone were used for antiviral, antimicrobial, and anti-inflammatory therapy, respectively. Intravenous mannitol was gradually tapered for reducing intracranial pressure with furosemide for inducing diuresis. Intravenous arginine could help to treat alkalosis and supple some essential amino acids. Oral oxiracetam capsules, vitamin B1, and coenzyme Q10 were used for providing nutrition and improving energy. His medications were 30 mg vitamin B1, 0.1gm vitamin C and mecobalamin 750 μg daily after discharge from our hospital. The patient was able to walk and talk slowly with improved writing skills and no stroke-like episodes. The neurological examination was negative and muscle tension was identified as grade V.", 'Patient concerns:': "A 12-year-old boy was admitted to Shaoxing People's Hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after treatment of unexplained fever and somnolence."}
|
{'Diagnoses:': 'The proband underwent a thorough examination in our hospital and was diagnosed as mitochondrial encephalomyopathy. The proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene. Although his parents did not carry the mutation.', 'Case presentation': "The proband was a 12-year-old boy on first visiting to our hospital. The proband was the first and the only child of his healthy, nonconsanguineous parents of Han Chinese descentand was born at 38 weeks gestation by spontaneous delivery. The proband had no postnatal adaptation, and the Apgar score was unknown. He was admitted to the hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after the treatment of unexplained fever and somnolence. The highest temperature was 37.8°C, accompanied by vomiting 4 to 5 times on the same day, with insufficient spirits. The study was conducted in accordance with the Declaration of Helsinki and was approved by the local ethics committee of our hospital (no. 2018021). Informed written consent was obtained from all participants prior to their enrollment in this study. The proband underwent a thorough examination in our hospital, including electroencephalogram, echocardiogram, electrocardiogram, brain magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS), physical examination, laboratory examination, and mitochondrial gene detection. Genomic DNA from the family was extracted from peripheral whole blood samples using the genomic DNA extraction kit (Qiagen) according to the manufacturer's instructions. The entire mitochondrial genomes of the family were PCR amplified in 24 overlapping fragments by using sets of the light strand and the heavy strand oligonucleotide primers, as described elsewhere. Each fragment was purified and subsequently Sanger sequencings were conducted by TSINGKE Biological Technology(Beijing, China). The resultant sequence data were compared with the revised consensus Cambridge sequence (GenBank accession no. NC-012920). His electroencephalogram showed clear increase of 4–5c/s theta waves, 2–3c/s delta waves, with a small amount of sharp waves. His brain MRI revealed abnormal signal, brain tissue swelling, and midline structure was shifted slightly to the right (Fig. 1 A). A large lactate peak and decreased N -acetylaspartate were found in this region on proton MRS (Fig. 1 B). Normal structure and ejection fraction were observed via echocardiography. Serum lactate dehydrogenase, creatine kinase, α-hydroxybutyrate dehydrogenase were significantly higher than normal, whereas creatinine, sodium, and chloride were significantly lower than normal. In the cerebrospinal fluid examination, the leucocyte count was zero, red blood cell count was 210×10 6 L, chloride was slightly lower, the protein and sugar quantifications were in normal control range. Mitochondrial sequencing revealed that the proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene, while his parents did not carry the mutation (Fig. 2 ). The patient was treated according to the diagnosis of mitochondrial encephalomyopathy. Intravenous acyclovir, ceftriaxone and dexamethasone were used for antiviral, antimicrobial, and anti-inflammatory therapy, respectively. Intravenous mannitol was gradually tapered for reducing intracranial pressure with furosemide for inducing diuresis. Intravenous arginine could help to treat alkalosis and supple some essential amino acids. Oral oxiracetam capsules, vitamin B1, and coenzyme Q10 were used for providing nutrition and improving energy. His medications were 30 mg vitamin B1, 0.1gm vitamin C and mecobalamin 750 μg daily after discharge from our hospital. The patient was able to walk and talk slowly with improved writing skills and no stroke-like episodes. The neurological examination was negative and muscle tension was identified as grade V.", 'Patient concerns:': "A 12-year-old boy was admitted to Shaoxing People's Hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after treatment of unexplained fever and somnolence."}
|
Age-of-Onset
|
Age (of onset)
|
[] |
6531061
|
{'Diagnoses:': 'The proband underwent a thorough examination in our hospital and was diagnosed as mitochondrial encephalomyopathy. The proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene. Although his parents did not carry the mutation.', 'Case presentation': "The proband was a 12-year-old boy on first visiting to our hospital. The proband was the first and the only child of his healthy, nonconsanguineous parents of Han Chinese descentand was born at 38 weeks gestation by spontaneous delivery. The proband had no postnatal adaptation, and the Apgar score was unknown. He was admitted to the hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after the treatment of unexplained fever and somnolence. The highest temperature was 37.8°C, accompanied by vomiting 4 to 5 times on the same day, with insufficient spirits. The study was conducted in accordance with the Declaration of Helsinki and was approved by the local ethics committee of our hospital (no. 2018021). Informed written consent was obtained from all participants prior to their enrollment in this study. The proband underwent a thorough examination in our hospital, including electroencephalogram, echocardiogram, electrocardiogram, brain magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS), physical examination, laboratory examination, and mitochondrial gene detection. Genomic DNA from the family was extracted from peripheral whole blood samples using the genomic DNA extraction kit (Qiagen) according to the manufacturer's instructions. The entire mitochondrial genomes of the family were PCR amplified in 24 overlapping fragments by using sets of the light strand and the heavy strand oligonucleotide primers, as described elsewhere. Each fragment was purified and subsequently Sanger sequencings were conducted by TSINGKE Biological Technology(Beijing, China). The resultant sequence data were compared with the revised consensus Cambridge sequence (GenBank accession no. NC-012920). His electroencephalogram showed clear increase of 4–5c/s theta waves, 2–3c/s delta waves, with a small amount of sharp waves. His brain MRI revealed abnormal signal, brain tissue swelling, and midline structure was shifted slightly to the right (Fig. 1 A). A large lactate peak and decreased N -acetylaspartate were found in this region on proton MRS (Fig. 1 B). Normal structure and ejection fraction were observed via echocardiography. Serum lactate dehydrogenase, creatine kinase, α-hydroxybutyrate dehydrogenase were significantly higher than normal, whereas creatinine, sodium, and chloride were significantly lower than normal. In the cerebrospinal fluid examination, the leucocyte count was zero, red blood cell count was 210×10 6 L, chloride was slightly lower, the protein and sugar quantifications were in normal control range. Mitochondrial sequencing revealed that the proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene, while his parents did not carry the mutation (Fig. 2 ). The patient was treated according to the diagnosis of mitochondrial encephalomyopathy. Intravenous acyclovir, ceftriaxone and dexamethasone were used for antiviral, antimicrobial, and anti-inflammatory therapy, respectively. Intravenous mannitol was gradually tapered for reducing intracranial pressure with furosemide for inducing diuresis. Intravenous arginine could help to treat alkalosis and supple some essential amino acids. Oral oxiracetam capsules, vitamin B1, and coenzyme Q10 were used for providing nutrition and improving energy. His medications were 30 mg vitamin B1, 0.1gm vitamin C and mecobalamin 750 μg daily after discharge from our hospital. The patient was able to walk and talk slowly with improved writing skills and no stroke-like episodes. The neurological examination was negative and muscle tension was identified as grade V.", 'Patient concerns:': "A 12-year-old boy was admitted to Shaoxing People's Hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after treatment of unexplained fever and somnolence."}
|
{'Diagnoses:': 'The proband underwent a thorough examination in our hospital and was diagnosed as mitochondrial encephalomyopathy. The proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene. Although his parents did not carry the mutation.', 'Case presentation': "The proband was a 12-year-old boy on first visiting to our hospital. The proband was the first and the only child of his healthy, nonconsanguineous parents of Han Chinese descentand was born at 38 weeks gestation by spontaneous delivery. The proband had no postnatal adaptation, and the Apgar score was unknown. He was admitted to the hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after the treatment of unexplained fever and somnolence. The highest temperature was 37.8°C, accompanied by vomiting 4 to 5 times on the same day, with insufficient spirits. The study was conducted in accordance with the Declaration of Helsinki and was approved by the local ethics committee of our hospital (no. 2018021). Informed written consent was obtained from all participants prior to their enrollment in this study. The proband underwent a thorough examination in our hospital, including electroencephalogram, echocardiogram, electrocardiogram, brain magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS), physical examination, laboratory examination, and mitochondrial gene detection. Genomic DNA from the family was extracted from peripheral whole blood samples using the genomic DNA extraction kit (Qiagen) according to the manufacturer's instructions. The entire mitochondrial genomes of the family were PCR amplified in 24 overlapping fragments by using sets of the light strand and the heavy strand oligonucleotide primers, as described elsewhere. Each fragment was purified and subsequently Sanger sequencings were conducted by TSINGKE Biological Technology(Beijing, China). The resultant sequence data were compared with the revised consensus Cambridge sequence (GenBank accession no. NC-012920). His electroencephalogram showed clear increase of 4–5c/s theta waves, 2–3c/s delta waves, with a small amount of sharp waves. His brain MRI revealed abnormal signal, brain tissue swelling, and midline structure was shifted slightly to the right (Fig. 1 A). A large lactate peak and decreased N -acetylaspartate were found in this region on proton MRS (Fig. 1 B). Normal structure and ejection fraction were observed via echocardiography. Serum lactate dehydrogenase, creatine kinase, α-hydroxybutyrate dehydrogenase were significantly higher than normal, whereas creatinine, sodium, and chloride were significantly lower than normal. In the cerebrospinal fluid examination, the leucocyte count was zero, red blood cell count was 210×10 6 L, chloride was slightly lower, the protein and sugar quantifications were in normal control range. Mitochondrial sequencing revealed that the proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene, while his parents did not carry the mutation (Fig. 2 ). The patient was treated according to the diagnosis of mitochondrial encephalomyopathy. Intravenous acyclovir, ceftriaxone and dexamethasone were used for antiviral, antimicrobial, and anti-inflammatory therapy, respectively. Intravenous mannitol was gradually tapered for reducing intracranial pressure with furosemide for inducing diuresis. Intravenous arginine could help to treat alkalosis and supple some essential amino acids. Oral oxiracetam capsules, vitamin B1, and coenzyme Q10 were used for providing nutrition and improving energy. His medications were 30 mg vitamin B1, 0.1gm vitamin C and mecobalamin 750 μg daily after discharge from our hospital. The patient was able to walk and talk slowly with improved writing skills and no stroke-like episodes. The neurological examination was negative and muscle tension was identified as grade V.", 'Patient concerns:': "A 12-year-old boy was admitted to Shaoxing People's Hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after treatment of unexplained fever and somnolence."}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"mitochondrial encephalomyopathy . The proband carried the pathogenic heteroplasmic mutation A3243 G mutation in mitochondrial 12S rRNA gene .",
"mitochondrial encephalomyopathy"
] |
6531061
|
{'Diagnoses:': 'The proband underwent a thorough examination in our hospital and was diagnosed as mitochondrial encephalomyopathy. The proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene. Although his parents did not carry the mutation.', 'Case presentation': "The proband was a 12-year-old boy on first visiting to our hospital. The proband was the first and the only child of his healthy, nonconsanguineous parents of Han Chinese descentand was born at 38 weeks gestation by spontaneous delivery. The proband had no postnatal adaptation, and the Apgar score was unknown. He was admitted to the hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after the treatment of unexplained fever and somnolence. The highest temperature was 37.8°C, accompanied by vomiting 4 to 5 times on the same day, with insufficient spirits. The study was conducted in accordance with the Declaration of Helsinki and was approved by the local ethics committee of our hospital (no. 2018021). Informed written consent was obtained from all participants prior to their enrollment in this study. The proband underwent a thorough examination in our hospital, including electroencephalogram, echocardiogram, electrocardiogram, brain magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS), physical examination, laboratory examination, and mitochondrial gene detection. Genomic DNA from the family was extracted from peripheral whole blood samples using the genomic DNA extraction kit (Qiagen) according to the manufacturer's instructions. The entire mitochondrial genomes of the family were PCR amplified in 24 overlapping fragments by using sets of the light strand and the heavy strand oligonucleotide primers, as described elsewhere. Each fragment was purified and subsequently Sanger sequencings were conducted by TSINGKE Biological Technology(Beijing, China). The resultant sequence data were compared with the revised consensus Cambridge sequence (GenBank accession no. NC-012920). His electroencephalogram showed clear increase of 4–5c/s theta waves, 2–3c/s delta waves, with a small amount of sharp waves. His brain MRI revealed abnormal signal, brain tissue swelling, and midline structure was shifted slightly to the right (Fig. 1 A). A large lactate peak and decreased N -acetylaspartate were found in this region on proton MRS (Fig. 1 B). Normal structure and ejection fraction were observed via echocardiography. Serum lactate dehydrogenase, creatine kinase, α-hydroxybutyrate dehydrogenase were significantly higher than normal, whereas creatinine, sodium, and chloride were significantly lower than normal. In the cerebrospinal fluid examination, the leucocyte count was zero, red blood cell count was 210×10 6 L, chloride was slightly lower, the protein and sugar quantifications were in normal control range. Mitochondrial sequencing revealed that the proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene, while his parents did not carry the mutation (Fig. 2 ). The patient was treated according to the diagnosis of mitochondrial encephalomyopathy. Intravenous acyclovir, ceftriaxone and dexamethasone were used for antiviral, antimicrobial, and anti-inflammatory therapy, respectively. Intravenous mannitol was gradually tapered for reducing intracranial pressure with furosemide for inducing diuresis. Intravenous arginine could help to treat alkalosis and supple some essential amino acids. Oral oxiracetam capsules, vitamin B1, and coenzyme Q10 were used for providing nutrition and improving energy. His medications were 30 mg vitamin B1, 0.1gm vitamin C and mecobalamin 750 μg daily after discharge from our hospital. The patient was able to walk and talk slowly with improved writing skills and no stroke-like episodes. The neurological examination was negative and muscle tension was identified as grade V.", 'Patient concerns:': "A 12-year-old boy was admitted to Shaoxing People's Hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after treatment of unexplained fever and somnolence."}
|
{'Diagnoses:': 'The proband underwent a thorough examination in our hospital and was diagnosed as mitochondrial encephalomyopathy. The proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene. Although his parents did not carry the mutation.', 'Case presentation': "The proband was a 12-year-old boy on first visiting to our hospital. The proband was the first and the only child of his healthy, nonconsanguineous parents of Han Chinese descentand was born at 38 weeks gestation by spontaneous delivery. The proband had no postnatal adaptation, and the Apgar score was unknown. He was admitted to the hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after the treatment of unexplained fever and somnolence. The highest temperature was 37.8°C, accompanied by vomiting 4 to 5 times on the same day, with insufficient spirits. The study was conducted in accordance with the Declaration of Helsinki and was approved by the local ethics committee of our hospital (no. 2018021). Informed written consent was obtained from all participants prior to their enrollment in this study. The proband underwent a thorough examination in our hospital, including electroencephalogram, echocardiogram, electrocardiogram, brain magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS), physical examination, laboratory examination, and mitochondrial gene detection. Genomic DNA from the family was extracted from peripheral whole blood samples using the genomic DNA extraction kit (Qiagen) according to the manufacturer's instructions. The entire mitochondrial genomes of the family were PCR amplified in 24 overlapping fragments by using sets of the light strand and the heavy strand oligonucleotide primers, as described elsewhere. Each fragment was purified and subsequently Sanger sequencings were conducted by TSINGKE Biological Technology(Beijing, China). The resultant sequence data were compared with the revised consensus Cambridge sequence (GenBank accession no. NC-012920). His electroencephalogram showed clear increase of 4–5c/s theta waves, 2–3c/s delta waves, with a small amount of sharp waves. His brain MRI revealed abnormal signal, brain tissue swelling, and midline structure was shifted slightly to the right (Fig. 1 A). A large lactate peak and decreased N -acetylaspartate were found in this region on proton MRS (Fig. 1 B). Normal structure and ejection fraction were observed via echocardiography. Serum lactate dehydrogenase, creatine kinase, α-hydroxybutyrate dehydrogenase were significantly higher than normal, whereas creatinine, sodium, and chloride were significantly lower than normal. In the cerebrospinal fluid examination, the leucocyte count was zero, red blood cell count was 210×10 6 L, chloride was slightly lower, the protein and sugar quantifications were in normal control range. Mitochondrial sequencing revealed that the proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene, while his parents did not carry the mutation (Fig. 2 ). The patient was treated according to the diagnosis of mitochondrial encephalomyopathy. Intravenous acyclovir, ceftriaxone and dexamethasone were used for antiviral, antimicrobial, and anti-inflammatory therapy, respectively. Intravenous mannitol was gradually tapered for reducing intracranial pressure with furosemide for inducing diuresis. Intravenous arginine could help to treat alkalosis and supple some essential amino acids. Oral oxiracetam capsules, vitamin B1, and coenzyme Q10 were used for providing nutrition and improving energy. His medications were 30 mg vitamin B1, 0.1gm vitamin C and mecobalamin 750 μg daily after discharge from our hospital. The patient was able to walk and talk slowly with improved writing skills and no stroke-like episodes. The neurological examination was negative and muscle tension was identified as grade V.", 'Patient concerns:': "A 12-year-old boy was admitted to Shaoxing People's Hospital because there is a reduction in the volume of speech, dysphonia, unable to write, recognize words, and unable to wear clothes, accompanied by unstable walking after treatment of unexplained fever and somnolence."}
|
IEM-Treatment
|
IEM_Treatment
|
[
"Intravenous arginine",
"coenzyme Q10"
] |
2910953
|
{'Case Report': 'A 20-year-old Turner syndrome (TS) patient with Neurofibromatosis 1 (NF1) and Tuberous sclerosis complex (TSC) was apparently normal till five years of age. She later started developing small skin lesions of the size of pin head over the face which gradually increased in size and number. There was also a swelling over the left forearm, about the size of a marble, which gradually increased to attain the size as shown in Figure 1a . The developmental milestones were within normal limits and the patient had attained menarche at 12 years of age with regular menstrual cycles with no history of seizures. Table 1 presents the phenotypic observation of the patient, in comparison with standard clinical manifestation. The expression level varies for all three disease conditions. Clinical investigations revealed that the girl had typical features of TSC in the form of Adenoma Sebaceum, Plexiform Neurofibroma Shagreen patch and Periungual Fibromas and multiple Café-au-lait spots ranging in size from 1.5cm to 4cm scattered all over the body confirmed NF1. Along with NF 1 and TSC, Turner features were evident with short stature, webbing of neck, low hair line, low set ears, high arched palate and cubitus valgus deformity. About 10-20% of Turner syndrome girls had spontaneous breast development and a small percentage may have menstrual periods. Pregnancies have been reported for spontaneously menstruating patients. The patient studied had also shown menstruation regularly with normal breast development, normal uterus and ovaries in pelvic ultrasound. Chromosomal analysis of the proband was carried out on peripheral blood lymphocyte culture by using the standard protocol of Seabright. with slight modifications. G-banded metaphases were screened by using a Leica DMRA2 research microscope. A total of 100 well banded metaphase plates were analyzed and karyotyped according to the International System for Human Cytogenetic Nomenclature-2005. Chromosome analysis of the patient confirmed with 45, XO Karyotype. An informed consent was obtained from the affected family members, before their inclusion in the study. Pedigree of the proband family revealed that there was no parental consanguinity. At the conception of the proband, the ages of the mother and father were 45 and 50 years respectively. There was no history of miscarriage or birth defects but her elder brother also had similar skin lesions over the face, which appeared at the age of seven years with Adenoma Sebaceum, Shagreen patch revealed the appearance of TSC.'}
|
{'Case Report': 'A 20-year-old Turner syndrome (TS) patient with Neurofibromatosis 1 (NF1) and Tuberous sclerosis complex (TSC) was apparently normal till five years of age. She later started developing small skin lesions of the size of pin head over the face which gradually increased in size and number. There was also a swelling over the left forearm, about the size of a marble, which gradually increased to attain the size as shown in Figure 1a . The developmental milestones were within normal limits and the patient had attained menarche at 12 years of age with regular menstrual cycles with no history of seizures. Table 1 presents the phenotypic observation of the patient, in comparison with standard clinical manifestation. The expression level varies for all three disease conditions. Clinical investigations revealed that the girl had typical features of TSC in the form of Adenoma Sebaceum, Plexiform Neurofibroma Shagreen patch and Periungual Fibromas and multiple Café-au-lait spots ranging in size from 1.5cm to 4cm scattered all over the body confirmed NF1. Along with NF 1 and TSC, Turner features were evident with short stature, webbing of neck, low hair line, low set ears, high arched palate and cubitus valgus deformity. About 10-20% of Turner syndrome girls had spontaneous breast development and a small percentage may have menstrual periods. Pregnancies have been reported for spontaneously menstruating patients. The patient studied had also shown menstruation regularly with normal breast development, normal uterus and ovaries in pelvic ultrasound. Chromosomal analysis of the proband was carried out on peripheral blood lymphocyte culture by using the standard protocol of Seabright. with slight modifications. G-banded metaphases were screened by using a Leica DMRA2 research microscope. A total of 100 well banded metaphase plates were analyzed and karyotyped according to the International System for Human Cytogenetic Nomenclature-2005. Chromosome analysis of the patient confirmed with 45, XO Karyotype. An informed consent was obtained from the affected family members, before their inclusion in the study. Pedigree of the proband family revealed that there was no parental consanguinity. At the conception of the proband, the ages of the mother and father were 45 and 50 years respectively. There was no history of miscarriage or birth defects but her elder brother also had similar skin lesions over the face, which appeared at the age of seven years with Adenoma Sebaceum, Shagreen patch revealed the appearance of TSC.'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[] |
2910953
|
{'Case Report': 'A 20-year-old Turner syndrome (TS) patient with Neurofibromatosis 1 (NF1) and Tuberous sclerosis complex (TSC) was apparently normal till five years of age. She later started developing small skin lesions of the size of pin head over the face which gradually increased in size and number. There was also a swelling over the left forearm, about the size of a marble, which gradually increased to attain the size as shown in Figure 1a . The developmental milestones were within normal limits and the patient had attained menarche at 12 years of age with regular menstrual cycles with no history of seizures. Table 1 presents the phenotypic observation of the patient, in comparison with standard clinical manifestation. The expression level varies for all three disease conditions. Clinical investigations revealed that the girl had typical features of TSC in the form of Adenoma Sebaceum, Plexiform Neurofibroma Shagreen patch and Periungual Fibromas and multiple Café-au-lait spots ranging in size from 1.5cm to 4cm scattered all over the body confirmed NF1. Along with NF 1 and TSC, Turner features were evident with short stature, webbing of neck, low hair line, low set ears, high arched palate and cubitus valgus deformity. About 10-20% of Turner syndrome girls had spontaneous breast development and a small percentage may have menstrual periods. Pregnancies have been reported for spontaneously menstruating patients. The patient studied had also shown menstruation regularly with normal breast development, normal uterus and ovaries in pelvic ultrasound. Chromosomal analysis of the proband was carried out on peripheral blood lymphocyte culture by using the standard protocol of Seabright. with slight modifications. G-banded metaphases were screened by using a Leica DMRA2 research microscope. A total of 100 well banded metaphase plates were analyzed and karyotyped according to the International System for Human Cytogenetic Nomenclature-2005. Chromosome analysis of the patient confirmed with 45, XO Karyotype. An informed consent was obtained from the affected family members, before their inclusion in the study. Pedigree of the proband family revealed that there was no parental consanguinity. At the conception of the proband, the ages of the mother and father were 45 and 50 years respectively. There was no history of miscarriage or birth defects but her elder brother also had similar skin lesions over the face, which appeared at the age of seven years with Adenoma Sebaceum, Shagreen patch revealed the appearance of TSC.'}
|
{'Case Report': 'A 20-year-old Turner syndrome (TS) patient with Neurofibromatosis 1 (NF1) and Tuberous sclerosis complex (TSC) was apparently normal till five years of age. She later started developing small skin lesions of the size of pin head over the face which gradually increased in size and number. There was also a swelling over the left forearm, about the size of a marble, which gradually increased to attain the size as shown in Figure 1a . The developmental milestones were within normal limits and the patient had attained menarche at 12 years of age with regular menstrual cycles with no history of seizures. Table 1 presents the phenotypic observation of the patient, in comparison with standard clinical manifestation. The expression level varies for all three disease conditions. Clinical investigations revealed that the girl had typical features of TSC in the form of Adenoma Sebaceum, Plexiform Neurofibroma Shagreen patch and Periungual Fibromas and multiple Café-au-lait spots ranging in size from 1.5cm to 4cm scattered all over the body confirmed NF1. Along with NF 1 and TSC, Turner features were evident with short stature, webbing of neck, low hair line, low set ears, high arched palate and cubitus valgus deformity. About 10-20% of Turner syndrome girls had spontaneous breast development and a small percentage may have menstrual periods. Pregnancies have been reported for spontaneously menstruating patients. The patient studied had also shown menstruation regularly with normal breast development, normal uterus and ovaries in pelvic ultrasound. Chromosomal analysis of the proband was carried out on peripheral blood lymphocyte culture by using the standard protocol of Seabright. with slight modifications. G-banded metaphases were screened by using a Leica DMRA2 research microscope. A total of 100 well banded metaphase plates were analyzed and karyotyped according to the International System for Human Cytogenetic Nomenclature-2005. Chromosome analysis of the patient confirmed with 45, XO Karyotype. An informed consent was obtained from the affected family members, before their inclusion in the study. Pedigree of the proband family revealed that there was no parental consanguinity. At the conception of the proband, the ages of the mother and father were 45 and 50 years respectively. There was no history of miscarriage or birth defects but her elder brother also had similar skin lesions over the face, which appeared at the age of seven years with Adenoma Sebaceum, Shagreen patch revealed the appearance of TSC.'}
|
Gastrointestinal-System
|
GI
|
[] |
2910953
|
{'Case Report': 'A 20-year-old Turner syndrome (TS) patient with Neurofibromatosis 1 (NF1) and Tuberous sclerosis complex (TSC) was apparently normal till five years of age. She later started developing small skin lesions of the size of pin head over the face which gradually increased in size and number. There was also a swelling over the left forearm, about the size of a marble, which gradually increased to attain the size as shown in Figure 1a . The developmental milestones were within normal limits and the patient had attained menarche at 12 years of age with regular menstrual cycles with no history of seizures. Table 1 presents the phenotypic observation of the patient, in comparison with standard clinical manifestation. The expression level varies for all three disease conditions. Clinical investigations revealed that the girl had typical features of TSC in the form of Adenoma Sebaceum, Plexiform Neurofibroma Shagreen patch and Periungual Fibromas and multiple Café-au-lait spots ranging in size from 1.5cm to 4cm scattered all over the body confirmed NF1. Along with NF 1 and TSC, Turner features were evident with short stature, webbing of neck, low hair line, low set ears, high arched palate and cubitus valgus deformity. About 10-20% of Turner syndrome girls had spontaneous breast development and a small percentage may have menstrual periods. Pregnancies have been reported for spontaneously menstruating patients. The patient studied had also shown menstruation regularly with normal breast development, normal uterus and ovaries in pelvic ultrasound. Chromosomal analysis of the proband was carried out on peripheral blood lymphocyte culture by using the standard protocol of Seabright. with slight modifications. G-banded metaphases were screened by using a Leica DMRA2 research microscope. A total of 100 well banded metaphase plates were analyzed and karyotyped according to the International System for Human Cytogenetic Nomenclature-2005. Chromosome analysis of the patient confirmed with 45, XO Karyotype. An informed consent was obtained from the affected family members, before their inclusion in the study. Pedigree of the proband family revealed that there was no parental consanguinity. At the conception of the proband, the ages of the mother and father were 45 and 50 years respectively. There was no history of miscarriage or birth defects but her elder brother also had similar skin lesions over the face, which appeared at the age of seven years with Adenoma Sebaceum, Shagreen patch revealed the appearance of TSC.'}
|
{'Case Report': 'A 20-year-old Turner syndrome (TS) patient with Neurofibromatosis 1 (NF1) and Tuberous sclerosis complex (TSC) was apparently normal till five years of age. She later started developing small skin lesions of the size of pin head over the face which gradually increased in size and number. There was also a swelling over the left forearm, about the size of a marble, which gradually increased to attain the size as shown in Figure 1a . The developmental milestones were within normal limits and the patient had attained menarche at 12 years of age with regular menstrual cycles with no history of seizures. Table 1 presents the phenotypic observation of the patient, in comparison with standard clinical manifestation. The expression level varies for all three disease conditions. Clinical investigations revealed that the girl had typical features of TSC in the form of Adenoma Sebaceum, Plexiform Neurofibroma Shagreen patch and Periungual Fibromas and multiple Café-au-lait spots ranging in size from 1.5cm to 4cm scattered all over the body confirmed NF1. Along with NF 1 and TSC, Turner features were evident with short stature, webbing of neck, low hair line, low set ears, high arched palate and cubitus valgus deformity. About 10-20% of Turner syndrome girls had spontaneous breast development and a small percentage may have menstrual periods. Pregnancies have been reported for spontaneously menstruating patients. The patient studied had also shown menstruation regularly with normal breast development, normal uterus and ovaries in pelvic ultrasound. Chromosomal analysis of the proband was carried out on peripheral blood lymphocyte culture by using the standard protocol of Seabright. with slight modifications. G-banded metaphases were screened by using a Leica DMRA2 research microscope. A total of 100 well banded metaphase plates were analyzed and karyotyped according to the International System for Human Cytogenetic Nomenclature-2005. Chromosome analysis of the patient confirmed with 45, XO Karyotype. An informed consent was obtained from the affected family members, before their inclusion in the study. Pedigree of the proband family revealed that there was no parental consanguinity. At the conception of the proband, the ages of the mother and father were 45 and 50 years respectively. There was no history of miscarriage or birth defects but her elder brother also had similar skin lesions over the face, which appeared at the age of seven years with Adenoma Sebaceum, Shagreen patch revealed the appearance of TSC.'}
|
Patient-History
|
History
|
[
"A 20 - year - old Turner syndrome ( TS ) patient with Neurofibromatosis 1 ( NF1 ) and Tuberous sclerosis complex ( TSC ) was apparently normal till five years of age."
] |
2910953
|
{'Case Report': 'A 20-year-old Turner syndrome (TS) patient with Neurofibromatosis 1 (NF1) and Tuberous sclerosis complex (TSC) was apparently normal till five years of age. She later started developing small skin lesions of the size of pin head over the face which gradually increased in size and number. There was also a swelling over the left forearm, about the size of a marble, which gradually increased to attain the size as shown in Figure 1a . The developmental milestones were within normal limits and the patient had attained menarche at 12 years of age with regular menstrual cycles with no history of seizures. Table 1 presents the phenotypic observation of the patient, in comparison with standard clinical manifestation. The expression level varies for all three disease conditions. Clinical investigations revealed that the girl had typical features of TSC in the form of Adenoma Sebaceum, Plexiform Neurofibroma Shagreen patch and Periungual Fibromas and multiple Café-au-lait spots ranging in size from 1.5cm to 4cm scattered all over the body confirmed NF1. Along with NF 1 and TSC, Turner features were evident with short stature, webbing of neck, low hair line, low set ears, high arched palate and cubitus valgus deformity. About 10-20% of Turner syndrome girls had spontaneous breast development and a small percentage may have menstrual periods. Pregnancies have been reported for spontaneously menstruating patients. The patient studied had also shown menstruation regularly with normal breast development, normal uterus and ovaries in pelvic ultrasound. Chromosomal analysis of the proband was carried out on peripheral blood lymphocyte culture by using the standard protocol of Seabright. with slight modifications. G-banded metaphases were screened by using a Leica DMRA2 research microscope. A total of 100 well banded metaphase plates were analyzed and karyotyped according to the International System for Human Cytogenetic Nomenclature-2005. Chromosome analysis of the patient confirmed with 45, XO Karyotype. An informed consent was obtained from the affected family members, before their inclusion in the study. Pedigree of the proband family revealed that there was no parental consanguinity. At the conception of the proband, the ages of the mother and father were 45 and 50 years respectively. There was no history of miscarriage or birth defects but her elder brother also had similar skin lesions over the face, which appeared at the age of seven years with Adenoma Sebaceum, Shagreen patch revealed the appearance of TSC.'}
|
{'Case Report': 'A 20-year-old Turner syndrome (TS) patient with Neurofibromatosis 1 (NF1) and Tuberous sclerosis complex (TSC) was apparently normal till five years of age. She later started developing small skin lesions of the size of pin head over the face which gradually increased in size and number. There was also a swelling over the left forearm, about the size of a marble, which gradually increased to attain the size as shown in Figure 1a . The developmental milestones were within normal limits and the patient had attained menarche at 12 years of age with regular menstrual cycles with no history of seizures. Table 1 presents the phenotypic observation of the patient, in comparison with standard clinical manifestation. The expression level varies for all three disease conditions. Clinical investigations revealed that the girl had typical features of TSC in the form of Adenoma Sebaceum, Plexiform Neurofibroma Shagreen patch and Periungual Fibromas and multiple Café-au-lait spots ranging in size from 1.5cm to 4cm scattered all over the body confirmed NF1. Along with NF 1 and TSC, Turner features were evident with short stature, webbing of neck, low hair line, low set ears, high arched palate and cubitus valgus deformity. About 10-20% of Turner syndrome girls had spontaneous breast development and a small percentage may have menstrual periods. Pregnancies have been reported for spontaneously menstruating patients. The patient studied had also shown menstruation regularly with normal breast development, normal uterus and ovaries in pelvic ultrasound. Chromosomal analysis of the proband was carried out on peripheral blood lymphocyte culture by using the standard protocol of Seabright. with slight modifications. G-banded metaphases were screened by using a Leica DMRA2 research microscope. A total of 100 well banded metaphase plates were analyzed and karyotyped according to the International System for Human Cytogenetic Nomenclature-2005. Chromosome analysis of the patient confirmed with 45, XO Karyotype. An informed consent was obtained from the affected family members, before their inclusion in the study. Pedigree of the proband family revealed that there was no parental consanguinity. At the conception of the proband, the ages of the mother and father were 45 and 50 years respectively. There was no history of miscarriage or birth defects but her elder brother also had similar skin lesions over the face, which appeared at the age of seven years with Adenoma Sebaceum, Shagreen patch revealed the appearance of TSC.'}
|
Neurology
|
Neuro
|
[
"developmental milestones were within normal limits",
"no history of seizures",
"Plexiform Neurofibroma"
] |
2910953
|
{'Case Report': 'A 20-year-old Turner syndrome (TS) patient with Neurofibromatosis 1 (NF1) and Tuberous sclerosis complex (TSC) was apparently normal till five years of age. She later started developing small skin lesions of the size of pin head over the face which gradually increased in size and number. There was also a swelling over the left forearm, about the size of a marble, which gradually increased to attain the size as shown in Figure 1a . The developmental milestones were within normal limits and the patient had attained menarche at 12 years of age with regular menstrual cycles with no history of seizures. Table 1 presents the phenotypic observation of the patient, in comparison with standard clinical manifestation. The expression level varies for all three disease conditions. Clinical investigations revealed that the girl had typical features of TSC in the form of Adenoma Sebaceum, Plexiform Neurofibroma Shagreen patch and Periungual Fibromas and multiple Café-au-lait spots ranging in size from 1.5cm to 4cm scattered all over the body confirmed NF1. Along with NF 1 and TSC, Turner features were evident with short stature, webbing of neck, low hair line, low set ears, high arched palate and cubitus valgus deformity. About 10-20% of Turner syndrome girls had spontaneous breast development and a small percentage may have menstrual periods. Pregnancies have been reported for spontaneously menstruating patients. The patient studied had also shown menstruation regularly with normal breast development, normal uterus and ovaries in pelvic ultrasound. Chromosomal analysis of the proband was carried out on peripheral blood lymphocyte culture by using the standard protocol of Seabright. with slight modifications. G-banded metaphases were screened by using a Leica DMRA2 research microscope. A total of 100 well banded metaphase plates were analyzed and karyotyped according to the International System for Human Cytogenetic Nomenclature-2005. Chromosome analysis of the patient confirmed with 45, XO Karyotype. An informed consent was obtained from the affected family members, before their inclusion in the study. Pedigree of the proband family revealed that there was no parental consanguinity. At the conception of the proband, the ages of the mother and father were 45 and 50 years respectively. There was no history of miscarriage or birth defects but her elder brother also had similar skin lesions over the face, which appeared at the age of seven years with Adenoma Sebaceum, Shagreen patch revealed the appearance of TSC.'}
|
{'Case Report': 'A 20-year-old Turner syndrome (TS) patient with Neurofibromatosis 1 (NF1) and Tuberous sclerosis complex (TSC) was apparently normal till five years of age. She later started developing small skin lesions of the size of pin head over the face which gradually increased in size and number. There was also a swelling over the left forearm, about the size of a marble, which gradually increased to attain the size as shown in Figure 1a . The developmental milestones were within normal limits and the patient had attained menarche at 12 years of age with regular menstrual cycles with no history of seizures. Table 1 presents the phenotypic observation of the patient, in comparison with standard clinical manifestation. The expression level varies for all three disease conditions. Clinical investigations revealed that the girl had typical features of TSC in the form of Adenoma Sebaceum, Plexiform Neurofibroma Shagreen patch and Periungual Fibromas and multiple Café-au-lait spots ranging in size from 1.5cm to 4cm scattered all over the body confirmed NF1. Along with NF 1 and TSC, Turner features were evident with short stature, webbing of neck, low hair line, low set ears, high arched palate and cubitus valgus deformity. About 10-20% of Turner syndrome girls had spontaneous breast development and a small percentage may have menstrual periods. Pregnancies have been reported for spontaneously menstruating patients. The patient studied had also shown menstruation regularly with normal breast development, normal uterus and ovaries in pelvic ultrasound. Chromosomal analysis of the proband was carried out on peripheral blood lymphocyte culture by using the standard protocol of Seabright. with slight modifications. G-banded metaphases were screened by using a Leica DMRA2 research microscope. A total of 100 well banded metaphase plates were analyzed and karyotyped according to the International System for Human Cytogenetic Nomenclature-2005. Chromosome analysis of the patient confirmed with 45, XO Karyotype. An informed consent was obtained from the affected family members, before their inclusion in the study. Pedigree of the proband family revealed that there was no parental consanguinity. At the conception of the proband, the ages of the mother and father were 45 and 50 years respectively. There was no history of miscarriage or birth defects but her elder brother also had similar skin lesions over the face, which appeared at the age of seven years with Adenoma Sebaceum, Shagreen patch revealed the appearance of TSC.'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"normal uterus and ovaries in pelvic ultrasound.",
"Chromosome analysis of the patient confirmed with 45, XO Karyotype"
] |
2910953
|
{'Case Report': 'A 20-year-old Turner syndrome (TS) patient with Neurofibromatosis 1 (NF1) and Tuberous sclerosis complex (TSC) was apparently normal till five years of age. She later started developing small skin lesions of the size of pin head over the face which gradually increased in size and number. There was also a swelling over the left forearm, about the size of a marble, which gradually increased to attain the size as shown in Figure 1a . The developmental milestones were within normal limits and the patient had attained menarche at 12 years of age with regular menstrual cycles with no history of seizures. Table 1 presents the phenotypic observation of the patient, in comparison with standard clinical manifestation. The expression level varies for all three disease conditions. Clinical investigations revealed that the girl had typical features of TSC in the form of Adenoma Sebaceum, Plexiform Neurofibroma Shagreen patch and Periungual Fibromas and multiple Café-au-lait spots ranging in size from 1.5cm to 4cm scattered all over the body confirmed NF1. Along with NF 1 and TSC, Turner features were evident with short stature, webbing of neck, low hair line, low set ears, high arched palate and cubitus valgus deformity. About 10-20% of Turner syndrome girls had spontaneous breast development and a small percentage may have menstrual periods. Pregnancies have been reported for spontaneously menstruating patients. The patient studied had also shown menstruation regularly with normal breast development, normal uterus and ovaries in pelvic ultrasound. Chromosomal analysis of the proband was carried out on peripheral blood lymphocyte culture by using the standard protocol of Seabright. with slight modifications. G-banded metaphases were screened by using a Leica DMRA2 research microscope. A total of 100 well banded metaphase plates were analyzed and karyotyped according to the International System for Human Cytogenetic Nomenclature-2005. Chromosome analysis of the patient confirmed with 45, XO Karyotype. An informed consent was obtained from the affected family members, before their inclusion in the study. Pedigree of the proband family revealed that there was no parental consanguinity. At the conception of the proband, the ages of the mother and father were 45 and 50 years respectively. There was no history of miscarriage or birth defects but her elder brother also had similar skin lesions over the face, which appeared at the age of seven years with Adenoma Sebaceum, Shagreen patch revealed the appearance of TSC.'}
|
{'Case Report': 'A 20-year-old Turner syndrome (TS) patient with Neurofibromatosis 1 (NF1) and Tuberous sclerosis complex (TSC) was apparently normal till five years of age. She later started developing small skin lesions of the size of pin head over the face which gradually increased in size and number. There was also a swelling over the left forearm, about the size of a marble, which gradually increased to attain the size as shown in Figure 1a . The developmental milestones were within normal limits and the patient had attained menarche at 12 years of age with regular menstrual cycles with no history of seizures. Table 1 presents the phenotypic observation of the patient, in comparison with standard clinical manifestation. The expression level varies for all three disease conditions. Clinical investigations revealed that the girl had typical features of TSC in the form of Adenoma Sebaceum, Plexiform Neurofibroma Shagreen patch and Periungual Fibromas and multiple Café-au-lait spots ranging in size from 1.5cm to 4cm scattered all over the body confirmed NF1. Along with NF 1 and TSC, Turner features were evident with short stature, webbing of neck, low hair line, low set ears, high arched palate and cubitus valgus deformity. About 10-20% of Turner syndrome girls had spontaneous breast development and a small percentage may have menstrual periods. Pregnancies have been reported for spontaneously menstruating patients. The patient studied had also shown menstruation regularly with normal breast development, normal uterus and ovaries in pelvic ultrasound. Chromosomal analysis of the proband was carried out on peripheral blood lymphocyte culture by using the standard protocol of Seabright. with slight modifications. G-banded metaphases were screened by using a Leica DMRA2 research microscope. A total of 100 well banded metaphase plates were analyzed and karyotyped according to the International System for Human Cytogenetic Nomenclature-2005. Chromosome analysis of the patient confirmed with 45, XO Karyotype. An informed consent was obtained from the affected family members, before their inclusion in the study. Pedigree of the proband family revealed that there was no parental consanguinity. At the conception of the proband, the ages of the mother and father were 45 and 50 years respectively. There was no history of miscarriage or birth defects but her elder brother also had similar skin lesions over the face, which appeared at the age of seven years with Adenoma Sebaceum, Shagreen patch revealed the appearance of TSC.'}
|
Cardiovascular-System
|
CVS
|
[] |
2910953
|
{'Case Report': 'A 20-year-old Turner syndrome (TS) patient with Neurofibromatosis 1 (NF1) and Tuberous sclerosis complex (TSC) was apparently normal till five years of age. She later started developing small skin lesions of the size of pin head over the face which gradually increased in size and number. There was also a swelling over the left forearm, about the size of a marble, which gradually increased to attain the size as shown in Figure 1a . The developmental milestones were within normal limits and the patient had attained menarche at 12 years of age with regular menstrual cycles with no history of seizures. Table 1 presents the phenotypic observation of the patient, in comparison with standard clinical manifestation. The expression level varies for all three disease conditions. Clinical investigations revealed that the girl had typical features of TSC in the form of Adenoma Sebaceum, Plexiform Neurofibroma Shagreen patch and Periungual Fibromas and multiple Café-au-lait spots ranging in size from 1.5cm to 4cm scattered all over the body confirmed NF1. Along with NF 1 and TSC, Turner features were evident with short stature, webbing of neck, low hair line, low set ears, high arched palate and cubitus valgus deformity. About 10-20% of Turner syndrome girls had spontaneous breast development and a small percentage may have menstrual periods. Pregnancies have been reported for spontaneously menstruating patients. The patient studied had also shown menstruation regularly with normal breast development, normal uterus and ovaries in pelvic ultrasound. Chromosomal analysis of the proband was carried out on peripheral blood lymphocyte culture by using the standard protocol of Seabright. with slight modifications. G-banded metaphases were screened by using a Leica DMRA2 research microscope. A total of 100 well banded metaphase plates were analyzed and karyotyped according to the International System for Human Cytogenetic Nomenclature-2005. Chromosome analysis of the patient confirmed with 45, XO Karyotype. An informed consent was obtained from the affected family members, before their inclusion in the study. Pedigree of the proband family revealed that there was no parental consanguinity. At the conception of the proband, the ages of the mother and father were 45 and 50 years respectively. There was no history of miscarriage or birth defects but her elder brother also had similar skin lesions over the face, which appeared at the age of seven years with Adenoma Sebaceum, Shagreen patch revealed the appearance of TSC.'}
|
{'Case Report': 'A 20-year-old Turner syndrome (TS) patient with Neurofibromatosis 1 (NF1) and Tuberous sclerosis complex (TSC) was apparently normal till five years of age. She later started developing small skin lesions of the size of pin head over the face which gradually increased in size and number. There was also a swelling over the left forearm, about the size of a marble, which gradually increased to attain the size as shown in Figure 1a . The developmental milestones were within normal limits and the patient had attained menarche at 12 years of age with regular menstrual cycles with no history of seizures. Table 1 presents the phenotypic observation of the patient, in comparison with standard clinical manifestation. The expression level varies for all three disease conditions. Clinical investigations revealed that the girl had typical features of TSC in the form of Adenoma Sebaceum, Plexiform Neurofibroma Shagreen patch and Periungual Fibromas and multiple Café-au-lait spots ranging in size from 1.5cm to 4cm scattered all over the body confirmed NF1. Along with NF 1 and TSC, Turner features were evident with short stature, webbing of neck, low hair line, low set ears, high arched palate and cubitus valgus deformity. About 10-20% of Turner syndrome girls had spontaneous breast development and a small percentage may have menstrual periods. Pregnancies have been reported for spontaneously menstruating patients. The patient studied had also shown menstruation regularly with normal breast development, normal uterus and ovaries in pelvic ultrasound. Chromosomal analysis of the proband was carried out on peripheral blood lymphocyte culture by using the standard protocol of Seabright. with slight modifications. G-banded metaphases were screened by using a Leica DMRA2 research microscope. A total of 100 well banded metaphase plates were analyzed and karyotyped according to the International System for Human Cytogenetic Nomenclature-2005. Chromosome analysis of the patient confirmed with 45, XO Karyotype. An informed consent was obtained from the affected family members, before their inclusion in the study. Pedigree of the proband family revealed that there was no parental consanguinity. At the conception of the proband, the ages of the mother and father were 45 and 50 years respectively. There was no history of miscarriage or birth defects but her elder brother also had similar skin lesions over the face, which appeared at the age of seven years with Adenoma Sebaceum, Shagreen patch revealed the appearance of TSC.'}
|
Endocrinology
|
ENDO
|
[
"menarche at 12 years of age with regular menstrual cycles"
] |
2910953
|
{'Case Report': 'A 20-year-old Turner syndrome (TS) patient with Neurofibromatosis 1 (NF1) and Tuberous sclerosis complex (TSC) was apparently normal till five years of age. She later started developing small skin lesions of the size of pin head over the face which gradually increased in size and number. There was also a swelling over the left forearm, about the size of a marble, which gradually increased to attain the size as shown in Figure 1a . The developmental milestones were within normal limits and the patient had attained menarche at 12 years of age with regular menstrual cycles with no history of seizures. Table 1 presents the phenotypic observation of the patient, in comparison with standard clinical manifestation. The expression level varies for all three disease conditions. Clinical investigations revealed that the girl had typical features of TSC in the form of Adenoma Sebaceum, Plexiform Neurofibroma Shagreen patch and Periungual Fibromas and multiple Café-au-lait spots ranging in size from 1.5cm to 4cm scattered all over the body confirmed NF1. Along with NF 1 and TSC, Turner features were evident with short stature, webbing of neck, low hair line, low set ears, high arched palate and cubitus valgus deformity. About 10-20% of Turner syndrome girls had spontaneous breast development and a small percentage may have menstrual periods. Pregnancies have been reported for spontaneously menstruating patients. The patient studied had also shown menstruation regularly with normal breast development, normal uterus and ovaries in pelvic ultrasound. Chromosomal analysis of the proband was carried out on peripheral blood lymphocyte culture by using the standard protocol of Seabright. with slight modifications. G-banded metaphases were screened by using a Leica DMRA2 research microscope. A total of 100 well banded metaphase plates were analyzed and karyotyped according to the International System for Human Cytogenetic Nomenclature-2005. Chromosome analysis of the patient confirmed with 45, XO Karyotype. An informed consent was obtained from the affected family members, before their inclusion in the study. Pedigree of the proband family revealed that there was no parental consanguinity. At the conception of the proband, the ages of the mother and father were 45 and 50 years respectively. There was no history of miscarriage or birth defects but her elder brother also had similar skin lesions over the face, which appeared at the age of seven years with Adenoma Sebaceum, Shagreen patch revealed the appearance of TSC.'}
|
{'Case Report': 'A 20-year-old Turner syndrome (TS) patient with Neurofibromatosis 1 (NF1) and Tuberous sclerosis complex (TSC) was apparently normal till five years of age. She later started developing small skin lesions of the size of pin head over the face which gradually increased in size and number. There was also a swelling over the left forearm, about the size of a marble, which gradually increased to attain the size as shown in Figure 1a . The developmental milestones were within normal limits and the patient had attained menarche at 12 years of age with regular menstrual cycles with no history of seizures. Table 1 presents the phenotypic observation of the patient, in comparison with standard clinical manifestation. The expression level varies for all three disease conditions. Clinical investigations revealed that the girl had typical features of TSC in the form of Adenoma Sebaceum, Plexiform Neurofibroma Shagreen patch and Periungual Fibromas and multiple Café-au-lait spots ranging in size from 1.5cm to 4cm scattered all over the body confirmed NF1. Along with NF 1 and TSC, Turner features were evident with short stature, webbing of neck, low hair line, low set ears, high arched palate and cubitus valgus deformity. About 10-20% of Turner syndrome girls had spontaneous breast development and a small percentage may have menstrual periods. Pregnancies have been reported for spontaneously menstruating patients. The patient studied had also shown menstruation regularly with normal breast development, normal uterus and ovaries in pelvic ultrasound. Chromosomal analysis of the proband was carried out on peripheral blood lymphocyte culture by using the standard protocol of Seabright. with slight modifications. G-banded metaphases were screened by using a Leica DMRA2 research microscope. A total of 100 well banded metaphase plates were analyzed and karyotyped according to the International System for Human Cytogenetic Nomenclature-2005. Chromosome analysis of the patient confirmed with 45, XO Karyotype. An informed consent was obtained from the affected family members, before their inclusion in the study. Pedigree of the proband family revealed that there was no parental consanguinity. At the conception of the proband, the ages of the mother and father were 45 and 50 years respectively. There was no history of miscarriage or birth defects but her elder brother also had similar skin lesions over the face, which appeared at the age of seven years with Adenoma Sebaceum, Shagreen patch revealed the appearance of TSC.'}
|
Genitourinary-System
|
GU
|
[
"attained menarche at 12 years of age with regular menstrual cycles",
"patient studied had also shown menstruation regularly with normal breast development"
] |
2910953
|
{'Case Report': 'A 20-year-old Turner syndrome (TS) patient with Neurofibromatosis 1 (NF1) and Tuberous sclerosis complex (TSC) was apparently normal till five years of age. She later started developing small skin lesions of the size of pin head over the face which gradually increased in size and number. There was also a swelling over the left forearm, about the size of a marble, which gradually increased to attain the size as shown in Figure 1a . The developmental milestones were within normal limits and the patient had attained menarche at 12 years of age with regular menstrual cycles with no history of seizures. Table 1 presents the phenotypic observation of the patient, in comparison with standard clinical manifestation. The expression level varies for all three disease conditions. Clinical investigations revealed that the girl had typical features of TSC in the form of Adenoma Sebaceum, Plexiform Neurofibroma Shagreen patch and Periungual Fibromas and multiple Café-au-lait spots ranging in size from 1.5cm to 4cm scattered all over the body confirmed NF1. Along with NF 1 and TSC, Turner features were evident with short stature, webbing of neck, low hair line, low set ears, high arched palate and cubitus valgus deformity. About 10-20% of Turner syndrome girls had spontaneous breast development and a small percentage may have menstrual periods. Pregnancies have been reported for spontaneously menstruating patients. The patient studied had also shown menstruation regularly with normal breast development, normal uterus and ovaries in pelvic ultrasound. Chromosomal analysis of the proband was carried out on peripheral blood lymphocyte culture by using the standard protocol of Seabright. with slight modifications. G-banded metaphases were screened by using a Leica DMRA2 research microscope. A total of 100 well banded metaphase plates were analyzed and karyotyped according to the International System for Human Cytogenetic Nomenclature-2005. Chromosome analysis of the patient confirmed with 45, XO Karyotype. An informed consent was obtained from the affected family members, before their inclusion in the study. Pedigree of the proband family revealed that there was no parental consanguinity. At the conception of the proband, the ages of the mother and father were 45 and 50 years respectively. There was no history of miscarriage or birth defects but her elder brother also had similar skin lesions over the face, which appeared at the age of seven years with Adenoma Sebaceum, Shagreen patch revealed the appearance of TSC.'}
|
{'Case Report': 'A 20-year-old Turner syndrome (TS) patient with Neurofibromatosis 1 (NF1) and Tuberous sclerosis complex (TSC) was apparently normal till five years of age. She later started developing small skin lesions of the size of pin head over the face which gradually increased in size and number. There was also a swelling over the left forearm, about the size of a marble, which gradually increased to attain the size as shown in Figure 1a . The developmental milestones were within normal limits and the patient had attained menarche at 12 years of age with regular menstrual cycles with no history of seizures. Table 1 presents the phenotypic observation of the patient, in comparison with standard clinical manifestation. The expression level varies for all three disease conditions. Clinical investigations revealed that the girl had typical features of TSC in the form of Adenoma Sebaceum, Plexiform Neurofibroma Shagreen patch and Periungual Fibromas and multiple Café-au-lait spots ranging in size from 1.5cm to 4cm scattered all over the body confirmed NF1. Along with NF 1 and TSC, Turner features were evident with short stature, webbing of neck, low hair line, low set ears, high arched palate and cubitus valgus deformity. About 10-20% of Turner syndrome girls had spontaneous breast development and a small percentage may have menstrual periods. Pregnancies have been reported for spontaneously menstruating patients. The patient studied had also shown menstruation regularly with normal breast development, normal uterus and ovaries in pelvic ultrasound. Chromosomal analysis of the proband was carried out on peripheral blood lymphocyte culture by using the standard protocol of Seabright. with slight modifications. G-banded metaphases were screened by using a Leica DMRA2 research microscope. A total of 100 well banded metaphase plates were analyzed and karyotyped according to the International System for Human Cytogenetic Nomenclature-2005. Chromosome analysis of the patient confirmed with 45, XO Karyotype. An informed consent was obtained from the affected family members, before their inclusion in the study. Pedigree of the proband family revealed that there was no parental consanguinity. At the conception of the proband, the ages of the mother and father were 45 and 50 years respectively. There was no history of miscarriage or birth defects but her elder brother also had similar skin lesions over the face, which appeared at the age of seven years with Adenoma Sebaceum, Shagreen patch revealed the appearance of TSC.'}
|
Respiratory-System
|
RESP
|
[] |
2910953
|
{'Case Report': 'A 20-year-old Turner syndrome (TS) patient with Neurofibromatosis 1 (NF1) and Tuberous sclerosis complex (TSC) was apparently normal till five years of age. She later started developing small skin lesions of the size of pin head over the face which gradually increased in size and number. There was also a swelling over the left forearm, about the size of a marble, which gradually increased to attain the size as shown in Figure 1a . The developmental milestones were within normal limits and the patient had attained menarche at 12 years of age with regular menstrual cycles with no history of seizures. Table 1 presents the phenotypic observation of the patient, in comparison with standard clinical manifestation. The expression level varies for all three disease conditions. Clinical investigations revealed that the girl had typical features of TSC in the form of Adenoma Sebaceum, Plexiform Neurofibroma Shagreen patch and Periungual Fibromas and multiple Café-au-lait spots ranging in size from 1.5cm to 4cm scattered all over the body confirmed NF1. Along with NF 1 and TSC, Turner features were evident with short stature, webbing of neck, low hair line, low set ears, high arched palate and cubitus valgus deformity. About 10-20% of Turner syndrome girls had spontaneous breast development and a small percentage may have menstrual periods. Pregnancies have been reported for spontaneously menstruating patients. The patient studied had also shown menstruation regularly with normal breast development, normal uterus and ovaries in pelvic ultrasound. Chromosomal analysis of the proband was carried out on peripheral blood lymphocyte culture by using the standard protocol of Seabright. with slight modifications. G-banded metaphases were screened by using a Leica DMRA2 research microscope. A total of 100 well banded metaphase plates were analyzed and karyotyped according to the International System for Human Cytogenetic Nomenclature-2005. Chromosome analysis of the patient confirmed with 45, XO Karyotype. An informed consent was obtained from the affected family members, before their inclusion in the study. Pedigree of the proband family revealed that there was no parental consanguinity. At the conception of the proband, the ages of the mother and father were 45 and 50 years respectively. There was no history of miscarriage or birth defects but her elder brother also had similar skin lesions over the face, which appeared at the age of seven years with Adenoma Sebaceum, Shagreen patch revealed the appearance of TSC.'}
|
{'Case Report': 'A 20-year-old Turner syndrome (TS) patient with Neurofibromatosis 1 (NF1) and Tuberous sclerosis complex (TSC) was apparently normal till five years of age. She later started developing small skin lesions of the size of pin head over the face which gradually increased in size and number. There was also a swelling over the left forearm, about the size of a marble, which gradually increased to attain the size as shown in Figure 1a . The developmental milestones were within normal limits and the patient had attained menarche at 12 years of age with regular menstrual cycles with no history of seizures. Table 1 presents the phenotypic observation of the patient, in comparison with standard clinical manifestation. The expression level varies for all three disease conditions. Clinical investigations revealed that the girl had typical features of TSC in the form of Adenoma Sebaceum, Plexiform Neurofibroma Shagreen patch and Periungual Fibromas and multiple Café-au-lait spots ranging in size from 1.5cm to 4cm scattered all over the body confirmed NF1. Along with NF 1 and TSC, Turner features were evident with short stature, webbing of neck, low hair line, low set ears, high arched palate and cubitus valgus deformity. About 10-20% of Turner syndrome girls had spontaneous breast development and a small percentage may have menstrual periods. Pregnancies have been reported for spontaneously menstruating patients. The patient studied had also shown menstruation regularly with normal breast development, normal uterus and ovaries in pelvic ultrasound. Chromosomal analysis of the proband was carried out on peripheral blood lymphocyte culture by using the standard protocol of Seabright. with slight modifications. G-banded metaphases were screened by using a Leica DMRA2 research microscope. A total of 100 well banded metaphase plates were analyzed and karyotyped according to the International System for Human Cytogenetic Nomenclature-2005. Chromosome analysis of the patient confirmed with 45, XO Karyotype. An informed consent was obtained from the affected family members, before their inclusion in the study. Pedigree of the proband family revealed that there was no parental consanguinity. At the conception of the proband, the ages of the mother and father were 45 and 50 years respectively. There was no history of miscarriage or birth defects but her elder brother also had similar skin lesions over the face, which appeared at the age of seven years with Adenoma Sebaceum, Shagreen patch revealed the appearance of TSC.'}
|
Musculoskeletal-System
|
MSK
|
[
"short stature",
"cubitus valgus deformity"
] |
2910953
|
{'Case Report': 'A 20-year-old Turner syndrome (TS) patient with Neurofibromatosis 1 (NF1) and Tuberous sclerosis complex (TSC) was apparently normal till five years of age. She later started developing small skin lesions of the size of pin head over the face which gradually increased in size and number. There was also a swelling over the left forearm, about the size of a marble, which gradually increased to attain the size as shown in Figure 1a . The developmental milestones were within normal limits and the patient had attained menarche at 12 years of age with regular menstrual cycles with no history of seizures. Table 1 presents the phenotypic observation of the patient, in comparison with standard clinical manifestation. The expression level varies for all three disease conditions. Clinical investigations revealed that the girl had typical features of TSC in the form of Adenoma Sebaceum, Plexiform Neurofibroma Shagreen patch and Periungual Fibromas and multiple Café-au-lait spots ranging in size from 1.5cm to 4cm scattered all over the body confirmed NF1. Along with NF 1 and TSC, Turner features were evident with short stature, webbing of neck, low hair line, low set ears, high arched palate and cubitus valgus deformity. About 10-20% of Turner syndrome girls had spontaneous breast development and a small percentage may have menstrual periods. Pregnancies have been reported for spontaneously menstruating patients. The patient studied had also shown menstruation regularly with normal breast development, normal uterus and ovaries in pelvic ultrasound. Chromosomal analysis of the proband was carried out on peripheral blood lymphocyte culture by using the standard protocol of Seabright. with slight modifications. G-banded metaphases were screened by using a Leica DMRA2 research microscope. A total of 100 well banded metaphase plates were analyzed and karyotyped according to the International System for Human Cytogenetic Nomenclature-2005. Chromosome analysis of the patient confirmed with 45, XO Karyotype. An informed consent was obtained from the affected family members, before their inclusion in the study. Pedigree of the proband family revealed that there was no parental consanguinity. At the conception of the proband, the ages of the mother and father were 45 and 50 years respectively. There was no history of miscarriage or birth defects but her elder brother also had similar skin lesions over the face, which appeared at the age of seven years with Adenoma Sebaceum, Shagreen patch revealed the appearance of TSC.'}
|
{'Case Report': 'A 20-year-old Turner syndrome (TS) patient with Neurofibromatosis 1 (NF1) and Tuberous sclerosis complex (TSC) was apparently normal till five years of age. She later started developing small skin lesions of the size of pin head over the face which gradually increased in size and number. There was also a swelling over the left forearm, about the size of a marble, which gradually increased to attain the size as shown in Figure 1a . The developmental milestones were within normal limits and the patient had attained menarche at 12 years of age with regular menstrual cycles with no history of seizures. Table 1 presents the phenotypic observation of the patient, in comparison with standard clinical manifestation. The expression level varies for all three disease conditions. Clinical investigations revealed that the girl had typical features of TSC in the form of Adenoma Sebaceum, Plexiform Neurofibroma Shagreen patch and Periungual Fibromas and multiple Café-au-lait spots ranging in size from 1.5cm to 4cm scattered all over the body confirmed NF1. Along with NF 1 and TSC, Turner features were evident with short stature, webbing of neck, low hair line, low set ears, high arched palate and cubitus valgus deformity. About 10-20% of Turner syndrome girls had spontaneous breast development and a small percentage may have menstrual periods. Pregnancies have been reported for spontaneously menstruating patients. The patient studied had also shown menstruation regularly with normal breast development, normal uterus and ovaries in pelvic ultrasound. Chromosomal analysis of the proband was carried out on peripheral blood lymphocyte culture by using the standard protocol of Seabright. with slight modifications. G-banded metaphases were screened by using a Leica DMRA2 research microscope. A total of 100 well banded metaphase plates were analyzed and karyotyped according to the International System for Human Cytogenetic Nomenclature-2005. Chromosome analysis of the patient confirmed with 45, XO Karyotype. An informed consent was obtained from the affected family members, before their inclusion in the study. Pedigree of the proband family revealed that there was no parental consanguinity. At the conception of the proband, the ages of the mother and father were 45 and 50 years respectively. There was no history of miscarriage or birth defects but her elder brother also had similar skin lesions over the face, which appeared at the age of seven years with Adenoma Sebaceum, Shagreen patch revealed the appearance of TSC.'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[
"high arched palate"
] |
2910953
|
{'Case Report': 'A 20-year-old Turner syndrome (TS) patient with Neurofibromatosis 1 (NF1) and Tuberous sclerosis complex (TSC) was apparently normal till five years of age. She later started developing small skin lesions of the size of pin head over the face which gradually increased in size and number. There was also a swelling over the left forearm, about the size of a marble, which gradually increased to attain the size as shown in Figure 1a . The developmental milestones were within normal limits and the patient had attained menarche at 12 years of age with regular menstrual cycles with no history of seizures. Table 1 presents the phenotypic observation of the patient, in comparison with standard clinical manifestation. The expression level varies for all three disease conditions. Clinical investigations revealed that the girl had typical features of TSC in the form of Adenoma Sebaceum, Plexiform Neurofibroma Shagreen patch and Periungual Fibromas and multiple Café-au-lait spots ranging in size from 1.5cm to 4cm scattered all over the body confirmed NF1. Along with NF 1 and TSC, Turner features were evident with short stature, webbing of neck, low hair line, low set ears, high arched palate and cubitus valgus deformity. About 10-20% of Turner syndrome girls had spontaneous breast development and a small percentage may have menstrual periods. Pregnancies have been reported for spontaneously menstruating patients. The patient studied had also shown menstruation regularly with normal breast development, normal uterus and ovaries in pelvic ultrasound. Chromosomal analysis of the proband was carried out on peripheral blood lymphocyte culture by using the standard protocol of Seabright. with slight modifications. G-banded metaphases were screened by using a Leica DMRA2 research microscope. A total of 100 well banded metaphase plates were analyzed and karyotyped according to the International System for Human Cytogenetic Nomenclature-2005. Chromosome analysis of the patient confirmed with 45, XO Karyotype. An informed consent was obtained from the affected family members, before their inclusion in the study. Pedigree of the proband family revealed that there was no parental consanguinity. At the conception of the proband, the ages of the mother and father were 45 and 50 years respectively. There was no history of miscarriage or birth defects but her elder brother also had similar skin lesions over the face, which appeared at the age of seven years with Adenoma Sebaceum, Shagreen patch revealed the appearance of TSC.'}
|
{'Case Report': 'A 20-year-old Turner syndrome (TS) patient with Neurofibromatosis 1 (NF1) and Tuberous sclerosis complex (TSC) was apparently normal till five years of age. She later started developing small skin lesions of the size of pin head over the face which gradually increased in size and number. There was also a swelling over the left forearm, about the size of a marble, which gradually increased to attain the size as shown in Figure 1a . The developmental milestones were within normal limits and the patient had attained menarche at 12 years of age with regular menstrual cycles with no history of seizures. Table 1 presents the phenotypic observation of the patient, in comparison with standard clinical manifestation. The expression level varies for all three disease conditions. Clinical investigations revealed that the girl had typical features of TSC in the form of Adenoma Sebaceum, Plexiform Neurofibroma Shagreen patch and Periungual Fibromas and multiple Café-au-lait spots ranging in size from 1.5cm to 4cm scattered all over the body confirmed NF1. Along with NF 1 and TSC, Turner features were evident with short stature, webbing of neck, low hair line, low set ears, high arched palate and cubitus valgus deformity. About 10-20% of Turner syndrome girls had spontaneous breast development and a small percentage may have menstrual periods. Pregnancies have been reported for spontaneously menstruating patients. The patient studied had also shown menstruation regularly with normal breast development, normal uterus and ovaries in pelvic ultrasound. Chromosomal analysis of the proband was carried out on peripheral blood lymphocyte culture by using the standard protocol of Seabright. with slight modifications. G-banded metaphases were screened by using a Leica DMRA2 research microscope. A total of 100 well banded metaphase plates were analyzed and karyotyped according to the International System for Human Cytogenetic Nomenclature-2005. Chromosome analysis of the patient confirmed with 45, XO Karyotype. An informed consent was obtained from the affected family members, before their inclusion in the study. Pedigree of the proband family revealed that there was no parental consanguinity. At the conception of the proband, the ages of the mother and father were 45 and 50 years respectively. There was no history of miscarriage or birth defects but her elder brother also had similar skin lesions over the face, which appeared at the age of seven years with Adenoma Sebaceum, Shagreen patch revealed the appearance of TSC.'}
|
Dermatology
|
DERM
|
[
"small skin lesions of the size of pin head over the face which gradually increased in size and number.",
"swelling over the left forearm, about the size of a marble, which gradually increased",
"Adenoma Sebaceum, Plexiform Neurofibroma Shagreen patch and Periungual Fibromas and multiple Café - au - lait spots ranging in size from 1.5 cm to 4 cm scattered all over the body",
"webbing of neck, low hair line, low set ears, high arched palate"
] |
2910953
|
{'Case Report': 'A 20-year-old Turner syndrome (TS) patient with Neurofibromatosis 1 (NF1) and Tuberous sclerosis complex (TSC) was apparently normal till five years of age. She later started developing small skin lesions of the size of pin head over the face which gradually increased in size and number. There was also a swelling over the left forearm, about the size of a marble, which gradually increased to attain the size as shown in Figure 1a . The developmental milestones were within normal limits and the patient had attained menarche at 12 years of age with regular menstrual cycles with no history of seizures. Table 1 presents the phenotypic observation of the patient, in comparison with standard clinical manifestation. The expression level varies for all three disease conditions. Clinical investigations revealed that the girl had typical features of TSC in the form of Adenoma Sebaceum, Plexiform Neurofibroma Shagreen patch and Periungual Fibromas and multiple Café-au-lait spots ranging in size from 1.5cm to 4cm scattered all over the body confirmed NF1. Along with NF 1 and TSC, Turner features were evident with short stature, webbing of neck, low hair line, low set ears, high arched palate and cubitus valgus deformity. About 10-20% of Turner syndrome girls had spontaneous breast development and a small percentage may have menstrual periods. Pregnancies have been reported for spontaneously menstruating patients. The patient studied had also shown menstruation regularly with normal breast development, normal uterus and ovaries in pelvic ultrasound. Chromosomal analysis of the proband was carried out on peripheral blood lymphocyte culture by using the standard protocol of Seabright. with slight modifications. G-banded metaphases were screened by using a Leica DMRA2 research microscope. A total of 100 well banded metaphase plates were analyzed and karyotyped according to the International System for Human Cytogenetic Nomenclature-2005. Chromosome analysis of the patient confirmed with 45, XO Karyotype. An informed consent was obtained from the affected family members, before their inclusion in the study. Pedigree of the proband family revealed that there was no parental consanguinity. At the conception of the proband, the ages of the mother and father were 45 and 50 years respectively. There was no history of miscarriage or birth defects but her elder brother also had similar skin lesions over the face, which appeared at the age of seven years with Adenoma Sebaceum, Shagreen patch revealed the appearance of TSC.'}
|
{'Case Report': 'A 20-year-old Turner syndrome (TS) patient with Neurofibromatosis 1 (NF1) and Tuberous sclerosis complex (TSC) was apparently normal till five years of age. She later started developing small skin lesions of the size of pin head over the face which gradually increased in size and number. There was also a swelling over the left forearm, about the size of a marble, which gradually increased to attain the size as shown in Figure 1a . The developmental milestones were within normal limits and the patient had attained menarche at 12 years of age with regular menstrual cycles with no history of seizures. Table 1 presents the phenotypic observation of the patient, in comparison with standard clinical manifestation. The expression level varies for all three disease conditions. Clinical investigations revealed that the girl had typical features of TSC in the form of Adenoma Sebaceum, Plexiform Neurofibroma Shagreen patch and Periungual Fibromas and multiple Café-au-lait spots ranging in size from 1.5cm to 4cm scattered all over the body confirmed NF1. Along with NF 1 and TSC, Turner features were evident with short stature, webbing of neck, low hair line, low set ears, high arched palate and cubitus valgus deformity. About 10-20% of Turner syndrome girls had spontaneous breast development and a small percentage may have menstrual periods. Pregnancies have been reported for spontaneously menstruating patients. The patient studied had also shown menstruation regularly with normal breast development, normal uterus and ovaries in pelvic ultrasound. Chromosomal analysis of the proband was carried out on peripheral blood lymphocyte culture by using the standard protocol of Seabright. with slight modifications. G-banded metaphases were screened by using a Leica DMRA2 research microscope. A total of 100 well banded metaphase plates were analyzed and karyotyped according to the International System for Human Cytogenetic Nomenclature-2005. Chromosome analysis of the patient confirmed with 45, XO Karyotype. An informed consent was obtained from the affected family members, before their inclusion in the study. Pedigree of the proband family revealed that there was no parental consanguinity. At the conception of the proband, the ages of the mother and father were 45 and 50 years respectively. There was no history of miscarriage or birth defects but her elder brother also had similar skin lesions over the face, which appeared at the age of seven years with Adenoma Sebaceum, Shagreen patch revealed the appearance of TSC.'}
|
Pregnancy
|
Pregnancy
|
[] |
2910953
|
{'Case Report': 'A 20-year-old Turner syndrome (TS) patient with Neurofibromatosis 1 (NF1) and Tuberous sclerosis complex (TSC) was apparently normal till five years of age. She later started developing small skin lesions of the size of pin head over the face which gradually increased in size and number. There was also a swelling over the left forearm, about the size of a marble, which gradually increased to attain the size as shown in Figure 1a . The developmental milestones were within normal limits and the patient had attained menarche at 12 years of age with regular menstrual cycles with no history of seizures. Table 1 presents the phenotypic observation of the patient, in comparison with standard clinical manifestation. The expression level varies for all three disease conditions. Clinical investigations revealed that the girl had typical features of TSC in the form of Adenoma Sebaceum, Plexiform Neurofibroma Shagreen patch and Periungual Fibromas and multiple Café-au-lait spots ranging in size from 1.5cm to 4cm scattered all over the body confirmed NF1. Along with NF 1 and TSC, Turner features were evident with short stature, webbing of neck, low hair line, low set ears, high arched palate and cubitus valgus deformity. About 10-20% of Turner syndrome girls had spontaneous breast development and a small percentage may have menstrual periods. Pregnancies have been reported for spontaneously menstruating patients. The patient studied had also shown menstruation regularly with normal breast development, normal uterus and ovaries in pelvic ultrasound. Chromosomal analysis of the proband was carried out on peripheral blood lymphocyte culture by using the standard protocol of Seabright. with slight modifications. G-banded metaphases were screened by using a Leica DMRA2 research microscope. A total of 100 well banded metaphase plates were analyzed and karyotyped according to the International System for Human Cytogenetic Nomenclature-2005. Chromosome analysis of the patient confirmed with 45, XO Karyotype. An informed consent was obtained from the affected family members, before their inclusion in the study. Pedigree of the proband family revealed that there was no parental consanguinity. At the conception of the proband, the ages of the mother and father were 45 and 50 years respectively. There was no history of miscarriage or birth defects but her elder brother also had similar skin lesions over the face, which appeared at the age of seven years with Adenoma Sebaceum, Shagreen patch revealed the appearance of TSC.'}
|
{'Case Report': 'A 20-year-old Turner syndrome (TS) patient with Neurofibromatosis 1 (NF1) and Tuberous sclerosis complex (TSC) was apparently normal till five years of age. She later started developing small skin lesions of the size of pin head over the face which gradually increased in size and number. There was also a swelling over the left forearm, about the size of a marble, which gradually increased to attain the size as shown in Figure 1a . The developmental milestones were within normal limits and the patient had attained menarche at 12 years of age with regular menstrual cycles with no history of seizures. Table 1 presents the phenotypic observation of the patient, in comparison with standard clinical manifestation. The expression level varies for all three disease conditions. Clinical investigations revealed that the girl had typical features of TSC in the form of Adenoma Sebaceum, Plexiform Neurofibroma Shagreen patch and Periungual Fibromas and multiple Café-au-lait spots ranging in size from 1.5cm to 4cm scattered all over the body confirmed NF1. Along with NF 1 and TSC, Turner features were evident with short stature, webbing of neck, low hair line, low set ears, high arched palate and cubitus valgus deformity. About 10-20% of Turner syndrome girls had spontaneous breast development and a small percentage may have menstrual periods. Pregnancies have been reported for spontaneously menstruating patients. The patient studied had also shown menstruation regularly with normal breast development, normal uterus and ovaries in pelvic ultrasound. Chromosomal analysis of the proband was carried out on peripheral blood lymphocyte culture by using the standard protocol of Seabright. with slight modifications. G-banded metaphases were screened by using a Leica DMRA2 research microscope. A total of 100 well banded metaphase plates were analyzed and karyotyped according to the International System for Human Cytogenetic Nomenclature-2005. Chromosome analysis of the patient confirmed with 45, XO Karyotype. An informed consent was obtained from the affected family members, before their inclusion in the study. Pedigree of the proband family revealed that there was no parental consanguinity. At the conception of the proband, the ages of the mother and father were 45 and 50 years respectively. There was no history of miscarriage or birth defects but her elder brother also had similar skin lesions over the face, which appeared at the age of seven years with Adenoma Sebaceum, Shagreen patch revealed the appearance of TSC.'}
|
Lymphatic-System
|
LYMPH
|
[] |
2910953
|
{'Case Report': 'A 20-year-old Turner syndrome (TS) patient with Neurofibromatosis 1 (NF1) and Tuberous sclerosis complex (TSC) was apparently normal till five years of age. She later started developing small skin lesions of the size of pin head over the face which gradually increased in size and number. There was also a swelling over the left forearm, about the size of a marble, which gradually increased to attain the size as shown in Figure 1a . The developmental milestones were within normal limits and the patient had attained menarche at 12 years of age with regular menstrual cycles with no history of seizures. Table 1 presents the phenotypic observation of the patient, in comparison with standard clinical manifestation. The expression level varies for all three disease conditions. Clinical investigations revealed that the girl had typical features of TSC in the form of Adenoma Sebaceum, Plexiform Neurofibroma Shagreen patch and Periungual Fibromas and multiple Café-au-lait spots ranging in size from 1.5cm to 4cm scattered all over the body confirmed NF1. Along with NF 1 and TSC, Turner features were evident with short stature, webbing of neck, low hair line, low set ears, high arched palate and cubitus valgus deformity. About 10-20% of Turner syndrome girls had spontaneous breast development and a small percentage may have menstrual periods. Pregnancies have been reported for spontaneously menstruating patients. The patient studied had also shown menstruation regularly with normal breast development, normal uterus and ovaries in pelvic ultrasound. Chromosomal analysis of the proband was carried out on peripheral blood lymphocyte culture by using the standard protocol of Seabright. with slight modifications. G-banded metaphases were screened by using a Leica DMRA2 research microscope. A total of 100 well banded metaphase plates were analyzed and karyotyped according to the International System for Human Cytogenetic Nomenclature-2005. Chromosome analysis of the patient confirmed with 45, XO Karyotype. An informed consent was obtained from the affected family members, before their inclusion in the study. Pedigree of the proband family revealed that there was no parental consanguinity. At the conception of the proband, the ages of the mother and father were 45 and 50 years respectively. There was no history of miscarriage or birth defects but her elder brother also had similar skin lesions over the face, which appeared at the age of seven years with Adenoma Sebaceum, Shagreen patch revealed the appearance of TSC.'}
|
{'Case Report': 'A 20-year-old Turner syndrome (TS) patient with Neurofibromatosis 1 (NF1) and Tuberous sclerosis complex (TSC) was apparently normal till five years of age. She later started developing small skin lesions of the size of pin head over the face which gradually increased in size and number. There was also a swelling over the left forearm, about the size of a marble, which gradually increased to attain the size as shown in Figure 1a . The developmental milestones were within normal limits and the patient had attained menarche at 12 years of age with regular menstrual cycles with no history of seizures. Table 1 presents the phenotypic observation of the patient, in comparison with standard clinical manifestation. The expression level varies for all three disease conditions. Clinical investigations revealed that the girl had typical features of TSC in the form of Adenoma Sebaceum, Plexiform Neurofibroma Shagreen patch and Periungual Fibromas and multiple Café-au-lait spots ranging in size from 1.5cm to 4cm scattered all over the body confirmed NF1. Along with NF 1 and TSC, Turner features were evident with short stature, webbing of neck, low hair line, low set ears, high arched palate and cubitus valgus deformity. About 10-20% of Turner syndrome girls had spontaneous breast development and a small percentage may have menstrual periods. Pregnancies have been reported for spontaneously menstruating patients. The patient studied had also shown menstruation regularly with normal breast development, normal uterus and ovaries in pelvic ultrasound. Chromosomal analysis of the proband was carried out on peripheral blood lymphocyte culture by using the standard protocol of Seabright. with slight modifications. G-banded metaphases were screened by using a Leica DMRA2 research microscope. A total of 100 well banded metaphase plates were analyzed and karyotyped according to the International System for Human Cytogenetic Nomenclature-2005. Chromosome analysis of the patient confirmed with 45, XO Karyotype. An informed consent was obtained from the affected family members, before their inclusion in the study. Pedigree of the proband family revealed that there was no parental consanguinity. At the conception of the proband, the ages of the mother and father were 45 and 50 years respectively. There was no history of miscarriage or birth defects but her elder brother also had similar skin lesions over the face, which appeared at the age of seven years with Adenoma Sebaceum, Shagreen patch revealed the appearance of TSC.'}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"20 - year - old"
] |
2910953
|
{'Case Report': 'A 20-year-old Turner syndrome (TS) patient with Neurofibromatosis 1 (NF1) and Tuberous sclerosis complex (TSC) was apparently normal till five years of age. She later started developing small skin lesions of the size of pin head over the face which gradually increased in size and number. There was also a swelling over the left forearm, about the size of a marble, which gradually increased to attain the size as shown in Figure 1a . The developmental milestones were within normal limits and the patient had attained menarche at 12 years of age with regular menstrual cycles with no history of seizures. Table 1 presents the phenotypic observation of the patient, in comparison with standard clinical manifestation. The expression level varies for all three disease conditions. Clinical investigations revealed that the girl had typical features of TSC in the form of Adenoma Sebaceum, Plexiform Neurofibroma Shagreen patch and Periungual Fibromas and multiple Café-au-lait spots ranging in size from 1.5cm to 4cm scattered all over the body confirmed NF1. Along with NF 1 and TSC, Turner features were evident with short stature, webbing of neck, low hair line, low set ears, high arched palate and cubitus valgus deformity. About 10-20% of Turner syndrome girls had spontaneous breast development and a small percentage may have menstrual periods. Pregnancies have been reported for spontaneously menstruating patients. The patient studied had also shown menstruation regularly with normal breast development, normal uterus and ovaries in pelvic ultrasound. Chromosomal analysis of the proband was carried out on peripheral blood lymphocyte culture by using the standard protocol of Seabright. with slight modifications. G-banded metaphases were screened by using a Leica DMRA2 research microscope. A total of 100 well banded metaphase plates were analyzed and karyotyped according to the International System for Human Cytogenetic Nomenclature-2005. Chromosome analysis of the patient confirmed with 45, XO Karyotype. An informed consent was obtained from the affected family members, before their inclusion in the study. Pedigree of the proband family revealed that there was no parental consanguinity. At the conception of the proband, the ages of the mother and father were 45 and 50 years respectively. There was no history of miscarriage or birth defects but her elder brother also had similar skin lesions over the face, which appeared at the age of seven years with Adenoma Sebaceum, Shagreen patch revealed the appearance of TSC.'}
|
{'Case Report': 'A 20-year-old Turner syndrome (TS) patient with Neurofibromatosis 1 (NF1) and Tuberous sclerosis complex (TSC) was apparently normal till five years of age. She later started developing small skin lesions of the size of pin head over the face which gradually increased in size and number. There was also a swelling over the left forearm, about the size of a marble, which gradually increased to attain the size as shown in Figure 1a . The developmental milestones were within normal limits and the patient had attained menarche at 12 years of age with regular menstrual cycles with no history of seizures. Table 1 presents the phenotypic observation of the patient, in comparison with standard clinical manifestation. The expression level varies for all three disease conditions. Clinical investigations revealed that the girl had typical features of TSC in the form of Adenoma Sebaceum, Plexiform Neurofibroma Shagreen patch and Periungual Fibromas and multiple Café-au-lait spots ranging in size from 1.5cm to 4cm scattered all over the body confirmed NF1. Along with NF 1 and TSC, Turner features were evident with short stature, webbing of neck, low hair line, low set ears, high arched palate and cubitus valgus deformity. About 10-20% of Turner syndrome girls had spontaneous breast development and a small percentage may have menstrual periods. Pregnancies have been reported for spontaneously menstruating patients. The patient studied had also shown menstruation regularly with normal breast development, normal uterus and ovaries in pelvic ultrasound. Chromosomal analysis of the proband was carried out on peripheral blood lymphocyte culture by using the standard protocol of Seabright. with slight modifications. G-banded metaphases were screened by using a Leica DMRA2 research microscope. A total of 100 well banded metaphase plates were analyzed and karyotyped according to the International System for Human Cytogenetic Nomenclature-2005. Chromosome analysis of the patient confirmed with 45, XO Karyotype. An informed consent was obtained from the affected family members, before their inclusion in the study. Pedigree of the proband family revealed that there was no parental consanguinity. At the conception of the proband, the ages of the mother and father were 45 and 50 years respectively. There was no history of miscarriage or birth defects but her elder brother also had similar skin lesions over the face, which appeared at the age of seven years with Adenoma Sebaceum, Shagreen patch revealed the appearance of TSC.'}
|
Age-of-Onset
|
Age (of onset)
|
[
"five years of age"
] |
2910953
|
{'Case Report': 'A 20-year-old Turner syndrome (TS) patient with Neurofibromatosis 1 (NF1) and Tuberous sclerosis complex (TSC) was apparently normal till five years of age. She later started developing small skin lesions of the size of pin head over the face which gradually increased in size and number. There was also a swelling over the left forearm, about the size of a marble, which gradually increased to attain the size as shown in Figure 1a . The developmental milestones were within normal limits and the patient had attained menarche at 12 years of age with regular menstrual cycles with no history of seizures. Table 1 presents the phenotypic observation of the patient, in comparison with standard clinical manifestation. The expression level varies for all three disease conditions. Clinical investigations revealed that the girl had typical features of TSC in the form of Adenoma Sebaceum, Plexiform Neurofibroma Shagreen patch and Periungual Fibromas and multiple Café-au-lait spots ranging in size from 1.5cm to 4cm scattered all over the body confirmed NF1. Along with NF 1 and TSC, Turner features were evident with short stature, webbing of neck, low hair line, low set ears, high arched palate and cubitus valgus deformity. About 10-20% of Turner syndrome girls had spontaneous breast development and a small percentage may have menstrual periods. Pregnancies have been reported for spontaneously menstruating patients. The patient studied had also shown menstruation regularly with normal breast development, normal uterus and ovaries in pelvic ultrasound. Chromosomal analysis of the proband was carried out on peripheral blood lymphocyte culture by using the standard protocol of Seabright. with slight modifications. G-banded metaphases were screened by using a Leica DMRA2 research microscope. A total of 100 well banded metaphase plates were analyzed and karyotyped according to the International System for Human Cytogenetic Nomenclature-2005. Chromosome analysis of the patient confirmed with 45, XO Karyotype. An informed consent was obtained from the affected family members, before their inclusion in the study. Pedigree of the proband family revealed that there was no parental consanguinity. At the conception of the proband, the ages of the mother and father were 45 and 50 years respectively. There was no history of miscarriage or birth defects but her elder brother also had similar skin lesions over the face, which appeared at the age of seven years with Adenoma Sebaceum, Shagreen patch revealed the appearance of TSC.'}
|
{'Case Report': 'A 20-year-old Turner syndrome (TS) patient with Neurofibromatosis 1 (NF1) and Tuberous sclerosis complex (TSC) was apparently normal till five years of age. She later started developing small skin lesions of the size of pin head over the face which gradually increased in size and number. There was also a swelling over the left forearm, about the size of a marble, which gradually increased to attain the size as shown in Figure 1a . The developmental milestones were within normal limits and the patient had attained menarche at 12 years of age with regular menstrual cycles with no history of seizures. Table 1 presents the phenotypic observation of the patient, in comparison with standard clinical manifestation. The expression level varies for all three disease conditions. Clinical investigations revealed that the girl had typical features of TSC in the form of Adenoma Sebaceum, Plexiform Neurofibroma Shagreen patch and Periungual Fibromas and multiple Café-au-lait spots ranging in size from 1.5cm to 4cm scattered all over the body confirmed NF1. Along with NF 1 and TSC, Turner features were evident with short stature, webbing of neck, low hair line, low set ears, high arched palate and cubitus valgus deformity. About 10-20% of Turner syndrome girls had spontaneous breast development and a small percentage may have menstrual periods. Pregnancies have been reported for spontaneously menstruating patients. The patient studied had also shown menstruation regularly with normal breast development, normal uterus and ovaries in pelvic ultrasound. Chromosomal analysis of the proband was carried out on peripheral blood lymphocyte culture by using the standard protocol of Seabright. with slight modifications. G-banded metaphases were screened by using a Leica DMRA2 research microscope. A total of 100 well banded metaphase plates were analyzed and karyotyped according to the International System for Human Cytogenetic Nomenclature-2005. Chromosome analysis of the patient confirmed with 45, XO Karyotype. An informed consent was obtained from the affected family members, before their inclusion in the study. Pedigree of the proband family revealed that there was no parental consanguinity. At the conception of the proband, the ages of the mother and father were 45 and 50 years respectively. There was no history of miscarriage or birth defects but her elder brother also had similar skin lesions over the face, which appeared at the age of seven years with Adenoma Sebaceum, Shagreen patch revealed the appearance of TSC.'}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"Turner syndrome ( TS ) patient with Neurofibromatosis 1 ( NF1 ) and Tuberous sclerosis complex ( TSC )"
] |
2910953
|
{'Case Report': 'A 20-year-old Turner syndrome (TS) patient with Neurofibromatosis 1 (NF1) and Tuberous sclerosis complex (TSC) was apparently normal till five years of age. She later started developing small skin lesions of the size of pin head over the face which gradually increased in size and number. There was also a swelling over the left forearm, about the size of a marble, which gradually increased to attain the size as shown in Figure 1a . The developmental milestones were within normal limits and the patient had attained menarche at 12 years of age with regular menstrual cycles with no history of seizures. Table 1 presents the phenotypic observation of the patient, in comparison with standard clinical manifestation. The expression level varies for all three disease conditions. Clinical investigations revealed that the girl had typical features of TSC in the form of Adenoma Sebaceum, Plexiform Neurofibroma Shagreen patch and Periungual Fibromas and multiple Café-au-lait spots ranging in size from 1.5cm to 4cm scattered all over the body confirmed NF1. Along with NF 1 and TSC, Turner features were evident with short stature, webbing of neck, low hair line, low set ears, high arched palate and cubitus valgus deformity. About 10-20% of Turner syndrome girls had spontaneous breast development and a small percentage may have menstrual periods. Pregnancies have been reported for spontaneously menstruating patients. The patient studied had also shown menstruation regularly with normal breast development, normal uterus and ovaries in pelvic ultrasound. Chromosomal analysis of the proband was carried out on peripheral blood lymphocyte culture by using the standard protocol of Seabright. with slight modifications. G-banded metaphases were screened by using a Leica DMRA2 research microscope. A total of 100 well banded metaphase plates were analyzed and karyotyped according to the International System for Human Cytogenetic Nomenclature-2005. Chromosome analysis of the patient confirmed with 45, XO Karyotype. An informed consent was obtained from the affected family members, before their inclusion in the study. Pedigree of the proband family revealed that there was no parental consanguinity. At the conception of the proband, the ages of the mother and father were 45 and 50 years respectively. There was no history of miscarriage or birth defects but her elder brother also had similar skin lesions over the face, which appeared at the age of seven years with Adenoma Sebaceum, Shagreen patch revealed the appearance of TSC.'}
|
{'Case Report': 'A 20-year-old Turner syndrome (TS) patient with Neurofibromatosis 1 (NF1) and Tuberous sclerosis complex (TSC) was apparently normal till five years of age. She later started developing small skin lesions of the size of pin head over the face which gradually increased in size and number. There was also a swelling over the left forearm, about the size of a marble, which gradually increased to attain the size as shown in Figure 1a . The developmental milestones were within normal limits and the patient had attained menarche at 12 years of age with regular menstrual cycles with no history of seizures. Table 1 presents the phenotypic observation of the patient, in comparison with standard clinical manifestation. The expression level varies for all three disease conditions. Clinical investigations revealed that the girl had typical features of TSC in the form of Adenoma Sebaceum, Plexiform Neurofibroma Shagreen patch and Periungual Fibromas and multiple Café-au-lait spots ranging in size from 1.5cm to 4cm scattered all over the body confirmed NF1. Along with NF 1 and TSC, Turner features were evident with short stature, webbing of neck, low hair line, low set ears, high arched palate and cubitus valgus deformity. About 10-20% of Turner syndrome girls had spontaneous breast development and a small percentage may have menstrual periods. Pregnancies have been reported for spontaneously menstruating patients. The patient studied had also shown menstruation regularly with normal breast development, normal uterus and ovaries in pelvic ultrasound. Chromosomal analysis of the proband was carried out on peripheral blood lymphocyte culture by using the standard protocol of Seabright. with slight modifications. G-banded metaphases were screened by using a Leica DMRA2 research microscope. A total of 100 well banded metaphase plates were analyzed and karyotyped according to the International System for Human Cytogenetic Nomenclature-2005. Chromosome analysis of the patient confirmed with 45, XO Karyotype. An informed consent was obtained from the affected family members, before their inclusion in the study. Pedigree of the proband family revealed that there was no parental consanguinity. At the conception of the proband, the ages of the mother and father were 45 and 50 years respectively. There was no history of miscarriage or birth defects but her elder brother also had similar skin lesions over the face, which appeared at the age of seven years with Adenoma Sebaceum, Shagreen patch revealed the appearance of TSC.'}
|
IEM-Treatment
|
IEM_Treatment
|
[] |
2526489
|
{'CASE REPORT': "A 3-yr-old boy was admitted because of eczema, recurrent infection, and thrombocytopenia with a platelet count less than 10×10 9 /L and was diagnosed as having WAS with a large deletion in the exon 1 to 11 of the WAS gene ( Fig. 1 ). For the detection of mutation, the following primers were used; exon 1 forward 5'-GGT TTT TTG CAT TTC CTG TTC-3' and exon 1 reverse 5'-AGG AAG AGG AAG AAA CGG TG-3', exon 2 forward 5'-CCT GAC CAG ACT CCA CTG AC-3' and exon 2 reverse 5'-CTT GAA GCT ATG GAC ACA TAT G-3', exon 3 forward 5'CCT CAG TGC CAC TGT GCC TC3' and exon 3 reverse 5'-TTC CCA TCT CCT CTC CAC AC-3', exon 4 forward 5'-GTG TGG AGA GGA GAT GGG AA-3' and exon 4 reverse 5'-CAC TCA CCT CTG CCC AAC TT-3', exon 5 forward 5'-AAG TTG GGC AGA GGT GAG TG-3' and exon 5 reverse 5'-AGA GAG TTA TCA CAG CCC TG-3', exon 6 forward 5'-GGC TGT GAT AAC TCT CTA CA-3' and exon 6 reverse 5'-CCA TCC ATC CAG AGA CAC AG-3', exon 7 forward 5'-TGG TAA GTG GGT CAA TGA GC-3' and exon 7 reverse 5'-CAG CTG TCC ACT TGT TCA TG-3', exon 8 forward 5'-AAG GAA GGG CAG TGA GGA TT-3'and exon 8 reverse 5'-GGT GGA AGT TTA GTG GAG TC-3', exon 9 forward 5'-CGC CTT ATT CCT CTA CTC CT-3'and exon 9 reverse 5'-GAC TGA GTG ACT TAG TGC GT-3', exon 10-1 forward 5'-TCA GTC AGG AGT TGG TCA GT-3'and exon 10-1 reverse 5'-GTC CAG AAC GTC CAG TAG CT-3', exon 10-2 forward 5'-CAG CTA CTG GAC GTT CTG GA-3'and exon 10-2 reverse 5'-CAG TAT CCT GAC TTA GAC GG-3', exon 11 forward 5'-GAG AAA TGC TCC TTT CCC AG-3'and exon 11 reverse 5'-TAG CCC TGG GAG CCA GGT TT-3', exon 12 forward 5'-CTC CCA GGG CAT CTT ATC TT-3'and exon 12 reverse 5'-AGC ACA GGG CAG CAA GTA AC-3'. He received transplantation from an HLA-A, B, C, DR, and DQ-matched unrelated male donor confirmed by a high-resolution molecular method, after the conditioning regimen composed of fludarabine (40 mg/m 2 on days -8, -7, -6, -5, -4, -3), busulfan (0.8 mg/kg i.v. q 6 hr on days -6, -5, -4, -3), and thymoglobulin (2.5 mg/kg on days -4, -3, -2). Written informed consent was obtained from parents of the patient before transplantation. Graft versus host disease (GVHD) prophylaxis was composed of cyclosporin, methotrexate (15 mg/kg on day 1, 10 mg/kg on days 3 and 6), and thymoglobulin (1.25 mg/kg on days 7, 9, 11). Other supportive care was performed according to the guideline for stem cell transplantation of our center ( 6 ). The number of infused nucleated cells and CD34-positive cells were 7.6×10 8 /kg and 6.2×10 6 /kg, respectively. He received G-CSF from 7 days after stem cell infusion and the nadir of white blood cells (0.09×10 9 /L) occurred 12 days after transplantation. The number of days required for absolute neutrophil count of more than 0.5×10 9 /L and 1.0× 10 9 /L were 14 days and 15 days, respectively, and spontaneous platelet recovery to more than 20×10 9 /L and 100× 10 9 /L required 16 days and 43 days, respectively. Grade I hematuria, grade II proteinuria, and grade II hepatic toxicity occurred during the transplantation but recovered spontaneously. No other serious complications occurred during transplantation. Grade II acute GVHD occurred 17 days after transplantation but resolved after the treatment with steroid. Bone marrow examination performed at one month post-transplantation revealed the donor type chimerism at 98.4% analyzed by short tandem repeat analysis and the normal polymerase chain reaction pattern in exons of the WAS gene ( Fig. 1 ). After 3 months of transplantation, complete donor type chimerism was achieved. Post-transplatation lymphoproliferative disease occurred 4 months after BMT but completely resolved with rituximab therapy. Chronic GVHD did not occur, and he is alive at 16 months after transplantation without any disease characteristics of WAS."}
|
{'CASE REPORT': "A 3-yr-old boy was admitted because of eczema, recurrent infection, and thrombocytopenia with a platelet count less than 10×10 9 /L and was diagnosed as having WAS with a large deletion in the exon 1 to 11 of the WAS gene ( Fig. 1 ). For the detection of mutation, the following primers were used; exon 1 forward 5'-GGT TTT TTG CAT TTC CTG TTC-3' and exon 1 reverse 5'-AGG AAG AGG AAG AAA CGG TG-3', exon 2 forward 5'-CCT GAC CAG ACT CCA CTG AC-3' and exon 2 reverse 5'-CTT GAA GCT ATG GAC ACA TAT G-3', exon 3 forward 5'CCT CAG TGC CAC TGT GCC TC3' and exon 3 reverse 5'-TTC CCA TCT CCT CTC CAC AC-3', exon 4 forward 5'-GTG TGG AGA GGA GAT GGG AA-3' and exon 4 reverse 5'-CAC TCA CCT CTG CCC AAC TT-3', exon 5 forward 5'-AAG TTG GGC AGA GGT GAG TG-3' and exon 5 reverse 5'-AGA GAG TTA TCA CAG CCC TG-3', exon 6 forward 5'-GGC TGT GAT AAC TCT CTA CA-3' and exon 6 reverse 5'-CCA TCC ATC CAG AGA CAC AG-3', exon 7 forward 5'-TGG TAA GTG GGT CAA TGA GC-3' and exon 7 reverse 5'-CAG CTG TCC ACT TGT TCA TG-3', exon 8 forward 5'-AAG GAA GGG CAG TGA GGA TT-3'and exon 8 reverse 5'-GGT GGA AGT TTA GTG GAG TC-3', exon 9 forward 5'-CGC CTT ATT CCT CTA CTC CT-3'and exon 9 reverse 5'-GAC TGA GTG ACT TAG TGC GT-3', exon 10-1 forward 5'-TCA GTC AGG AGT TGG TCA GT-3'and exon 10-1 reverse 5'-GTC CAG AAC GTC CAG TAG CT-3', exon 10-2 forward 5'-CAG CTA CTG GAC GTT CTG GA-3'and exon 10-2 reverse 5'-CAG TAT CCT GAC TTA GAC GG-3', exon 11 forward 5'-GAG AAA TGC TCC TTT CCC AG-3'and exon 11 reverse 5'-TAG CCC TGG GAG CCA GGT TT-3', exon 12 forward 5'-CTC CCA GGG CAT CTT ATC TT-3'and exon 12 reverse 5'-AGC ACA GGG CAG CAA GTA AC-3'. He received transplantation from an HLA-A, B, C, DR, and DQ-matched unrelated male donor confirmed by a high-resolution molecular method, after the conditioning regimen composed of fludarabine (40 mg/m 2 on days -8, -7, -6, -5, -4, -3), busulfan (0.8 mg/kg i.v. q 6 hr on days -6, -5, -4, -3), and thymoglobulin (2.5 mg/kg on days -4, -3, -2). Written informed consent was obtained from parents of the patient before transplantation. Graft versus host disease (GVHD) prophylaxis was composed of cyclosporin, methotrexate (15 mg/kg on day 1, 10 mg/kg on days 3 and 6), and thymoglobulin (1.25 mg/kg on days 7, 9, 11). Other supportive care was performed according to the guideline for stem cell transplantation of our center ( 6 ). The number of infused nucleated cells and CD34-positive cells were 7.6×10 8 /kg and 6.2×10 6 /kg, respectively. He received G-CSF from 7 days after stem cell infusion and the nadir of white blood cells (0.09×10 9 /L) occurred 12 days after transplantation. The number of days required for absolute neutrophil count of more than 0.5×10 9 /L and 1.0× 10 9 /L were 14 days and 15 days, respectively, and spontaneous platelet recovery to more than 20×10 9 /L and 100× 10 9 /L required 16 days and 43 days, respectively. Grade I hematuria, grade II proteinuria, and grade II hepatic toxicity occurred during the transplantation but recovered spontaneously. No other serious complications occurred during transplantation. Grade II acute GVHD occurred 17 days after transplantation but resolved after the treatment with steroid. Bone marrow examination performed at one month post-transplantation revealed the donor type chimerism at 98.4% analyzed by short tandem repeat analysis and the normal polymerase chain reaction pattern in exons of the WAS gene ( Fig. 1 ). After 3 months of transplantation, complete donor type chimerism was achieved. Post-transplatation lymphoproliferative disease occurred 4 months after BMT but completely resolved with rituximab therapy. Chronic GVHD did not occur, and he is alive at 16 months after transplantation without any disease characteristics of WAS."}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[
"thrombocytopenia with a platelet count less than 10×10 9 /L"
] |
2526489
|
{'CASE REPORT': "A 3-yr-old boy was admitted because of eczema, recurrent infection, and thrombocytopenia with a platelet count less than 10×10 9 /L and was diagnosed as having WAS with a large deletion in the exon 1 to 11 of the WAS gene ( Fig. 1 ). For the detection of mutation, the following primers were used; exon 1 forward 5'-GGT TTT TTG CAT TTC CTG TTC-3' and exon 1 reverse 5'-AGG AAG AGG AAG AAA CGG TG-3', exon 2 forward 5'-CCT GAC CAG ACT CCA CTG AC-3' and exon 2 reverse 5'-CTT GAA GCT ATG GAC ACA TAT G-3', exon 3 forward 5'CCT CAG TGC CAC TGT GCC TC3' and exon 3 reverse 5'-TTC CCA TCT CCT CTC CAC AC-3', exon 4 forward 5'-GTG TGG AGA GGA GAT GGG AA-3' and exon 4 reverse 5'-CAC TCA CCT CTG CCC AAC TT-3', exon 5 forward 5'-AAG TTG GGC AGA GGT GAG TG-3' and exon 5 reverse 5'-AGA GAG TTA TCA CAG CCC TG-3', exon 6 forward 5'-GGC TGT GAT AAC TCT CTA CA-3' and exon 6 reverse 5'-CCA TCC ATC CAG AGA CAC AG-3', exon 7 forward 5'-TGG TAA GTG GGT CAA TGA GC-3' and exon 7 reverse 5'-CAG CTG TCC ACT TGT TCA TG-3', exon 8 forward 5'-AAG GAA GGG CAG TGA GGA TT-3'and exon 8 reverse 5'-GGT GGA AGT TTA GTG GAG TC-3', exon 9 forward 5'-CGC CTT ATT CCT CTA CTC CT-3'and exon 9 reverse 5'-GAC TGA GTG ACT TAG TGC GT-3', exon 10-1 forward 5'-TCA GTC AGG AGT TGG TCA GT-3'and exon 10-1 reverse 5'-GTC CAG AAC GTC CAG TAG CT-3', exon 10-2 forward 5'-CAG CTA CTG GAC GTT CTG GA-3'and exon 10-2 reverse 5'-CAG TAT CCT GAC TTA GAC GG-3', exon 11 forward 5'-GAG AAA TGC TCC TTT CCC AG-3'and exon 11 reverse 5'-TAG CCC TGG GAG CCA GGT TT-3', exon 12 forward 5'-CTC CCA GGG CAT CTT ATC TT-3'and exon 12 reverse 5'-AGC ACA GGG CAG CAA GTA AC-3'. He received transplantation from an HLA-A, B, C, DR, and DQ-matched unrelated male donor confirmed by a high-resolution molecular method, after the conditioning regimen composed of fludarabine (40 mg/m 2 on days -8, -7, -6, -5, -4, -3), busulfan (0.8 mg/kg i.v. q 6 hr on days -6, -5, -4, -3), and thymoglobulin (2.5 mg/kg on days -4, -3, -2). Written informed consent was obtained from parents of the patient before transplantation. Graft versus host disease (GVHD) prophylaxis was composed of cyclosporin, methotrexate (15 mg/kg on day 1, 10 mg/kg on days 3 and 6), and thymoglobulin (1.25 mg/kg on days 7, 9, 11). Other supportive care was performed according to the guideline for stem cell transplantation of our center ( 6 ). The number of infused nucleated cells and CD34-positive cells were 7.6×10 8 /kg and 6.2×10 6 /kg, respectively. He received G-CSF from 7 days after stem cell infusion and the nadir of white blood cells (0.09×10 9 /L) occurred 12 days after transplantation. The number of days required for absolute neutrophil count of more than 0.5×10 9 /L and 1.0× 10 9 /L were 14 days and 15 days, respectively, and spontaneous platelet recovery to more than 20×10 9 /L and 100× 10 9 /L required 16 days and 43 days, respectively. Grade I hematuria, grade II proteinuria, and grade II hepatic toxicity occurred during the transplantation but recovered spontaneously. No other serious complications occurred during transplantation. Grade II acute GVHD occurred 17 days after transplantation but resolved after the treatment with steroid. Bone marrow examination performed at one month post-transplantation revealed the donor type chimerism at 98.4% analyzed by short tandem repeat analysis and the normal polymerase chain reaction pattern in exons of the WAS gene ( Fig. 1 ). After 3 months of transplantation, complete donor type chimerism was achieved. Post-transplatation lymphoproliferative disease occurred 4 months after BMT but completely resolved with rituximab therapy. Chronic GVHD did not occur, and he is alive at 16 months after transplantation without any disease characteristics of WAS."}
|
{'CASE REPORT': "A 3-yr-old boy was admitted because of eczema, recurrent infection, and thrombocytopenia with a platelet count less than 10×10 9 /L and was diagnosed as having WAS with a large deletion in the exon 1 to 11 of the WAS gene ( Fig. 1 ). For the detection of mutation, the following primers were used; exon 1 forward 5'-GGT TTT TTG CAT TTC CTG TTC-3' and exon 1 reverse 5'-AGG AAG AGG AAG AAA CGG TG-3', exon 2 forward 5'-CCT GAC CAG ACT CCA CTG AC-3' and exon 2 reverse 5'-CTT GAA GCT ATG GAC ACA TAT G-3', exon 3 forward 5'CCT CAG TGC CAC TGT GCC TC3' and exon 3 reverse 5'-TTC CCA TCT CCT CTC CAC AC-3', exon 4 forward 5'-GTG TGG AGA GGA GAT GGG AA-3' and exon 4 reverse 5'-CAC TCA CCT CTG CCC AAC TT-3', exon 5 forward 5'-AAG TTG GGC AGA GGT GAG TG-3' and exon 5 reverse 5'-AGA GAG TTA TCA CAG CCC TG-3', exon 6 forward 5'-GGC TGT GAT AAC TCT CTA CA-3' and exon 6 reverse 5'-CCA TCC ATC CAG AGA CAC AG-3', exon 7 forward 5'-TGG TAA GTG GGT CAA TGA GC-3' and exon 7 reverse 5'-CAG CTG TCC ACT TGT TCA TG-3', exon 8 forward 5'-AAG GAA GGG CAG TGA GGA TT-3'and exon 8 reverse 5'-GGT GGA AGT TTA GTG GAG TC-3', exon 9 forward 5'-CGC CTT ATT CCT CTA CTC CT-3'and exon 9 reverse 5'-GAC TGA GTG ACT TAG TGC GT-3', exon 10-1 forward 5'-TCA GTC AGG AGT TGG TCA GT-3'and exon 10-1 reverse 5'-GTC CAG AAC GTC CAG TAG CT-3', exon 10-2 forward 5'-CAG CTA CTG GAC GTT CTG GA-3'and exon 10-2 reverse 5'-CAG TAT CCT GAC TTA GAC GG-3', exon 11 forward 5'-GAG AAA TGC TCC TTT CCC AG-3'and exon 11 reverse 5'-TAG CCC TGG GAG CCA GGT TT-3', exon 12 forward 5'-CTC CCA GGG CAT CTT ATC TT-3'and exon 12 reverse 5'-AGC ACA GGG CAG CAA GTA AC-3'. He received transplantation from an HLA-A, B, C, DR, and DQ-matched unrelated male donor confirmed by a high-resolution molecular method, after the conditioning regimen composed of fludarabine (40 mg/m 2 on days -8, -7, -6, -5, -4, -3), busulfan (0.8 mg/kg i.v. q 6 hr on days -6, -5, -4, -3), and thymoglobulin (2.5 mg/kg on days -4, -3, -2). Written informed consent was obtained from parents of the patient before transplantation. Graft versus host disease (GVHD) prophylaxis was composed of cyclosporin, methotrexate (15 mg/kg on day 1, 10 mg/kg on days 3 and 6), and thymoglobulin (1.25 mg/kg on days 7, 9, 11). Other supportive care was performed according to the guideline for stem cell transplantation of our center ( 6 ). The number of infused nucleated cells and CD34-positive cells were 7.6×10 8 /kg and 6.2×10 6 /kg, respectively. He received G-CSF from 7 days after stem cell infusion and the nadir of white blood cells (0.09×10 9 /L) occurred 12 days after transplantation. The number of days required for absolute neutrophil count of more than 0.5×10 9 /L and 1.0× 10 9 /L were 14 days and 15 days, respectively, and spontaneous platelet recovery to more than 20×10 9 /L and 100× 10 9 /L required 16 days and 43 days, respectively. Grade I hematuria, grade II proteinuria, and grade II hepatic toxicity occurred during the transplantation but recovered spontaneously. No other serious complications occurred during transplantation. Grade II acute GVHD occurred 17 days after transplantation but resolved after the treatment with steroid. Bone marrow examination performed at one month post-transplantation revealed the donor type chimerism at 98.4% analyzed by short tandem repeat analysis and the normal polymerase chain reaction pattern in exons of the WAS gene ( Fig. 1 ). After 3 months of transplantation, complete donor type chimerism was achieved. Post-transplatation lymphoproliferative disease occurred 4 months after BMT but completely resolved with rituximab therapy. Chronic GVHD did not occur, and he is alive at 16 months after transplantation without any disease characteristics of WAS."}
|
Gastrointestinal-System
|
GI
|
[] |
2526489
|
{'CASE REPORT': "A 3-yr-old boy was admitted because of eczema, recurrent infection, and thrombocytopenia with a platelet count less than 10×10 9 /L and was diagnosed as having WAS with a large deletion in the exon 1 to 11 of the WAS gene ( Fig. 1 ). For the detection of mutation, the following primers were used; exon 1 forward 5'-GGT TTT TTG CAT TTC CTG TTC-3' and exon 1 reverse 5'-AGG AAG AGG AAG AAA CGG TG-3', exon 2 forward 5'-CCT GAC CAG ACT CCA CTG AC-3' and exon 2 reverse 5'-CTT GAA GCT ATG GAC ACA TAT G-3', exon 3 forward 5'CCT CAG TGC CAC TGT GCC TC3' and exon 3 reverse 5'-TTC CCA TCT CCT CTC CAC AC-3', exon 4 forward 5'-GTG TGG AGA GGA GAT GGG AA-3' and exon 4 reverse 5'-CAC TCA CCT CTG CCC AAC TT-3', exon 5 forward 5'-AAG TTG GGC AGA GGT GAG TG-3' and exon 5 reverse 5'-AGA GAG TTA TCA CAG CCC TG-3', exon 6 forward 5'-GGC TGT GAT AAC TCT CTA CA-3' and exon 6 reverse 5'-CCA TCC ATC CAG AGA CAC AG-3', exon 7 forward 5'-TGG TAA GTG GGT CAA TGA GC-3' and exon 7 reverse 5'-CAG CTG TCC ACT TGT TCA TG-3', exon 8 forward 5'-AAG GAA GGG CAG TGA GGA TT-3'and exon 8 reverse 5'-GGT GGA AGT TTA GTG GAG TC-3', exon 9 forward 5'-CGC CTT ATT CCT CTA CTC CT-3'and exon 9 reverse 5'-GAC TGA GTG ACT TAG TGC GT-3', exon 10-1 forward 5'-TCA GTC AGG AGT TGG TCA GT-3'and exon 10-1 reverse 5'-GTC CAG AAC GTC CAG TAG CT-3', exon 10-2 forward 5'-CAG CTA CTG GAC GTT CTG GA-3'and exon 10-2 reverse 5'-CAG TAT CCT GAC TTA GAC GG-3', exon 11 forward 5'-GAG AAA TGC TCC TTT CCC AG-3'and exon 11 reverse 5'-TAG CCC TGG GAG CCA GGT TT-3', exon 12 forward 5'-CTC CCA GGG CAT CTT ATC TT-3'and exon 12 reverse 5'-AGC ACA GGG CAG CAA GTA AC-3'. He received transplantation from an HLA-A, B, C, DR, and DQ-matched unrelated male donor confirmed by a high-resolution molecular method, after the conditioning regimen composed of fludarabine (40 mg/m 2 on days -8, -7, -6, -5, -4, -3), busulfan (0.8 mg/kg i.v. q 6 hr on days -6, -5, -4, -3), and thymoglobulin (2.5 mg/kg on days -4, -3, -2). Written informed consent was obtained from parents of the patient before transplantation. Graft versus host disease (GVHD) prophylaxis was composed of cyclosporin, methotrexate (15 mg/kg on day 1, 10 mg/kg on days 3 and 6), and thymoglobulin (1.25 mg/kg on days 7, 9, 11). Other supportive care was performed according to the guideline for stem cell transplantation of our center ( 6 ). The number of infused nucleated cells and CD34-positive cells were 7.6×10 8 /kg and 6.2×10 6 /kg, respectively. He received G-CSF from 7 days after stem cell infusion and the nadir of white blood cells (0.09×10 9 /L) occurred 12 days after transplantation. The number of days required for absolute neutrophil count of more than 0.5×10 9 /L and 1.0× 10 9 /L were 14 days and 15 days, respectively, and spontaneous platelet recovery to more than 20×10 9 /L and 100× 10 9 /L required 16 days and 43 days, respectively. Grade I hematuria, grade II proteinuria, and grade II hepatic toxicity occurred during the transplantation but recovered spontaneously. No other serious complications occurred during transplantation. Grade II acute GVHD occurred 17 days after transplantation but resolved after the treatment with steroid. Bone marrow examination performed at one month post-transplantation revealed the donor type chimerism at 98.4% analyzed by short tandem repeat analysis and the normal polymerase chain reaction pattern in exons of the WAS gene ( Fig. 1 ). After 3 months of transplantation, complete donor type chimerism was achieved. Post-transplatation lymphoproliferative disease occurred 4 months after BMT but completely resolved with rituximab therapy. Chronic GVHD did not occur, and he is alive at 16 months after transplantation without any disease characteristics of WAS."}
|
{'CASE REPORT': "A 3-yr-old boy was admitted because of eczema, recurrent infection, and thrombocytopenia with a platelet count less than 10×10 9 /L and was diagnosed as having WAS with a large deletion in the exon 1 to 11 of the WAS gene ( Fig. 1 ). For the detection of mutation, the following primers were used; exon 1 forward 5'-GGT TTT TTG CAT TTC CTG TTC-3' and exon 1 reverse 5'-AGG AAG AGG AAG AAA CGG TG-3', exon 2 forward 5'-CCT GAC CAG ACT CCA CTG AC-3' and exon 2 reverse 5'-CTT GAA GCT ATG GAC ACA TAT G-3', exon 3 forward 5'CCT CAG TGC CAC TGT GCC TC3' and exon 3 reverse 5'-TTC CCA TCT CCT CTC CAC AC-3', exon 4 forward 5'-GTG TGG AGA GGA GAT GGG AA-3' and exon 4 reverse 5'-CAC TCA CCT CTG CCC AAC TT-3', exon 5 forward 5'-AAG TTG GGC AGA GGT GAG TG-3' and exon 5 reverse 5'-AGA GAG TTA TCA CAG CCC TG-3', exon 6 forward 5'-GGC TGT GAT AAC TCT CTA CA-3' and exon 6 reverse 5'-CCA TCC ATC CAG AGA CAC AG-3', exon 7 forward 5'-TGG TAA GTG GGT CAA TGA GC-3' and exon 7 reverse 5'-CAG CTG TCC ACT TGT TCA TG-3', exon 8 forward 5'-AAG GAA GGG CAG TGA GGA TT-3'and exon 8 reverse 5'-GGT GGA AGT TTA GTG GAG TC-3', exon 9 forward 5'-CGC CTT ATT CCT CTA CTC CT-3'and exon 9 reverse 5'-GAC TGA GTG ACT TAG TGC GT-3', exon 10-1 forward 5'-TCA GTC AGG AGT TGG TCA GT-3'and exon 10-1 reverse 5'-GTC CAG AAC GTC CAG TAG CT-3', exon 10-2 forward 5'-CAG CTA CTG GAC GTT CTG GA-3'and exon 10-2 reverse 5'-CAG TAT CCT GAC TTA GAC GG-3', exon 11 forward 5'-GAG AAA TGC TCC TTT CCC AG-3'and exon 11 reverse 5'-TAG CCC TGG GAG CCA GGT TT-3', exon 12 forward 5'-CTC CCA GGG CAT CTT ATC TT-3'and exon 12 reverse 5'-AGC ACA GGG CAG CAA GTA AC-3'. He received transplantation from an HLA-A, B, C, DR, and DQ-matched unrelated male donor confirmed by a high-resolution molecular method, after the conditioning regimen composed of fludarabine (40 mg/m 2 on days -8, -7, -6, -5, -4, -3), busulfan (0.8 mg/kg i.v. q 6 hr on days -6, -5, -4, -3), and thymoglobulin (2.5 mg/kg on days -4, -3, -2). Written informed consent was obtained from parents of the patient before transplantation. Graft versus host disease (GVHD) prophylaxis was composed of cyclosporin, methotrexate (15 mg/kg on day 1, 10 mg/kg on days 3 and 6), and thymoglobulin (1.25 mg/kg on days 7, 9, 11). Other supportive care was performed according to the guideline for stem cell transplantation of our center ( 6 ). The number of infused nucleated cells and CD34-positive cells were 7.6×10 8 /kg and 6.2×10 6 /kg, respectively. He received G-CSF from 7 days after stem cell infusion and the nadir of white blood cells (0.09×10 9 /L) occurred 12 days after transplantation. The number of days required for absolute neutrophil count of more than 0.5×10 9 /L and 1.0× 10 9 /L were 14 days and 15 days, respectively, and spontaneous platelet recovery to more than 20×10 9 /L and 100× 10 9 /L required 16 days and 43 days, respectively. Grade I hematuria, grade II proteinuria, and grade II hepatic toxicity occurred during the transplantation but recovered spontaneously. No other serious complications occurred during transplantation. Grade II acute GVHD occurred 17 days after transplantation but resolved after the treatment with steroid. Bone marrow examination performed at one month post-transplantation revealed the donor type chimerism at 98.4% analyzed by short tandem repeat analysis and the normal polymerase chain reaction pattern in exons of the WAS gene ( Fig. 1 ). After 3 months of transplantation, complete donor type chimerism was achieved. Post-transplatation lymphoproliferative disease occurred 4 months after BMT but completely resolved with rituximab therapy. Chronic GVHD did not occur, and he is alive at 16 months after transplantation without any disease characteristics of WAS."}
|
Patient-History
|
History
|
[
"A 3 - yr - old boy was admitted because of eczema, recurrent infection, and thrombocytopenia with a platelet count less than 10×10 9 /L",
"was diagnosed as having WAS"
] |
2526489
|
{'CASE REPORT': "A 3-yr-old boy was admitted because of eczema, recurrent infection, and thrombocytopenia with a platelet count less than 10×10 9 /L and was diagnosed as having WAS with a large deletion in the exon 1 to 11 of the WAS gene ( Fig. 1 ). For the detection of mutation, the following primers were used; exon 1 forward 5'-GGT TTT TTG CAT TTC CTG TTC-3' and exon 1 reverse 5'-AGG AAG AGG AAG AAA CGG TG-3', exon 2 forward 5'-CCT GAC CAG ACT CCA CTG AC-3' and exon 2 reverse 5'-CTT GAA GCT ATG GAC ACA TAT G-3', exon 3 forward 5'CCT CAG TGC CAC TGT GCC TC3' and exon 3 reverse 5'-TTC CCA TCT CCT CTC CAC AC-3', exon 4 forward 5'-GTG TGG AGA GGA GAT GGG AA-3' and exon 4 reverse 5'-CAC TCA CCT CTG CCC AAC TT-3', exon 5 forward 5'-AAG TTG GGC AGA GGT GAG TG-3' and exon 5 reverse 5'-AGA GAG TTA TCA CAG CCC TG-3', exon 6 forward 5'-GGC TGT GAT AAC TCT CTA CA-3' and exon 6 reverse 5'-CCA TCC ATC CAG AGA CAC AG-3', exon 7 forward 5'-TGG TAA GTG GGT CAA TGA GC-3' and exon 7 reverse 5'-CAG CTG TCC ACT TGT TCA TG-3', exon 8 forward 5'-AAG GAA GGG CAG TGA GGA TT-3'and exon 8 reverse 5'-GGT GGA AGT TTA GTG GAG TC-3', exon 9 forward 5'-CGC CTT ATT CCT CTA CTC CT-3'and exon 9 reverse 5'-GAC TGA GTG ACT TAG TGC GT-3', exon 10-1 forward 5'-TCA GTC AGG AGT TGG TCA GT-3'and exon 10-1 reverse 5'-GTC CAG AAC GTC CAG TAG CT-3', exon 10-2 forward 5'-CAG CTA CTG GAC GTT CTG GA-3'and exon 10-2 reverse 5'-CAG TAT CCT GAC TTA GAC GG-3', exon 11 forward 5'-GAG AAA TGC TCC TTT CCC AG-3'and exon 11 reverse 5'-TAG CCC TGG GAG CCA GGT TT-3', exon 12 forward 5'-CTC CCA GGG CAT CTT ATC TT-3'and exon 12 reverse 5'-AGC ACA GGG CAG CAA GTA AC-3'. He received transplantation from an HLA-A, B, C, DR, and DQ-matched unrelated male donor confirmed by a high-resolution molecular method, after the conditioning regimen composed of fludarabine (40 mg/m 2 on days -8, -7, -6, -5, -4, -3), busulfan (0.8 mg/kg i.v. q 6 hr on days -6, -5, -4, -3), and thymoglobulin (2.5 mg/kg on days -4, -3, -2). Written informed consent was obtained from parents of the patient before transplantation. Graft versus host disease (GVHD) prophylaxis was composed of cyclosporin, methotrexate (15 mg/kg on day 1, 10 mg/kg on days 3 and 6), and thymoglobulin (1.25 mg/kg on days 7, 9, 11). Other supportive care was performed according to the guideline for stem cell transplantation of our center ( 6 ). The number of infused nucleated cells and CD34-positive cells were 7.6×10 8 /kg and 6.2×10 6 /kg, respectively. He received G-CSF from 7 days after stem cell infusion and the nadir of white blood cells (0.09×10 9 /L) occurred 12 days after transplantation. The number of days required for absolute neutrophil count of more than 0.5×10 9 /L and 1.0× 10 9 /L were 14 days and 15 days, respectively, and spontaneous platelet recovery to more than 20×10 9 /L and 100× 10 9 /L required 16 days and 43 days, respectively. Grade I hematuria, grade II proteinuria, and grade II hepatic toxicity occurred during the transplantation but recovered spontaneously. No other serious complications occurred during transplantation. Grade II acute GVHD occurred 17 days after transplantation but resolved after the treatment with steroid. Bone marrow examination performed at one month post-transplantation revealed the donor type chimerism at 98.4% analyzed by short tandem repeat analysis and the normal polymerase chain reaction pattern in exons of the WAS gene ( Fig. 1 ). After 3 months of transplantation, complete donor type chimerism was achieved. Post-transplatation lymphoproliferative disease occurred 4 months after BMT but completely resolved with rituximab therapy. Chronic GVHD did not occur, and he is alive at 16 months after transplantation without any disease characteristics of WAS."}
|
{'CASE REPORT': "A 3-yr-old boy was admitted because of eczema, recurrent infection, and thrombocytopenia with a platelet count less than 10×10 9 /L and was diagnosed as having WAS with a large deletion in the exon 1 to 11 of the WAS gene ( Fig. 1 ). For the detection of mutation, the following primers were used; exon 1 forward 5'-GGT TTT TTG CAT TTC CTG TTC-3' and exon 1 reverse 5'-AGG AAG AGG AAG AAA CGG TG-3', exon 2 forward 5'-CCT GAC CAG ACT CCA CTG AC-3' and exon 2 reverse 5'-CTT GAA GCT ATG GAC ACA TAT G-3', exon 3 forward 5'CCT CAG TGC CAC TGT GCC TC3' and exon 3 reverse 5'-TTC CCA TCT CCT CTC CAC AC-3', exon 4 forward 5'-GTG TGG AGA GGA GAT GGG AA-3' and exon 4 reverse 5'-CAC TCA CCT CTG CCC AAC TT-3', exon 5 forward 5'-AAG TTG GGC AGA GGT GAG TG-3' and exon 5 reverse 5'-AGA GAG TTA TCA CAG CCC TG-3', exon 6 forward 5'-GGC TGT GAT AAC TCT CTA CA-3' and exon 6 reverse 5'-CCA TCC ATC CAG AGA CAC AG-3', exon 7 forward 5'-TGG TAA GTG GGT CAA TGA GC-3' and exon 7 reverse 5'-CAG CTG TCC ACT TGT TCA TG-3', exon 8 forward 5'-AAG GAA GGG CAG TGA GGA TT-3'and exon 8 reverse 5'-GGT GGA AGT TTA GTG GAG TC-3', exon 9 forward 5'-CGC CTT ATT CCT CTA CTC CT-3'and exon 9 reverse 5'-GAC TGA GTG ACT TAG TGC GT-3', exon 10-1 forward 5'-TCA GTC AGG AGT TGG TCA GT-3'and exon 10-1 reverse 5'-GTC CAG AAC GTC CAG TAG CT-3', exon 10-2 forward 5'-CAG CTA CTG GAC GTT CTG GA-3'and exon 10-2 reverse 5'-CAG TAT CCT GAC TTA GAC GG-3', exon 11 forward 5'-GAG AAA TGC TCC TTT CCC AG-3'and exon 11 reverse 5'-TAG CCC TGG GAG CCA GGT TT-3', exon 12 forward 5'-CTC CCA GGG CAT CTT ATC TT-3'and exon 12 reverse 5'-AGC ACA GGG CAG CAA GTA AC-3'. He received transplantation from an HLA-A, B, C, DR, and DQ-matched unrelated male donor confirmed by a high-resolution molecular method, after the conditioning regimen composed of fludarabine (40 mg/m 2 on days -8, -7, -6, -5, -4, -3), busulfan (0.8 mg/kg i.v. q 6 hr on days -6, -5, -4, -3), and thymoglobulin (2.5 mg/kg on days -4, -3, -2). Written informed consent was obtained from parents of the patient before transplantation. Graft versus host disease (GVHD) prophylaxis was composed of cyclosporin, methotrexate (15 mg/kg on day 1, 10 mg/kg on days 3 and 6), and thymoglobulin (1.25 mg/kg on days 7, 9, 11). Other supportive care was performed according to the guideline for stem cell transplantation of our center ( 6 ). The number of infused nucleated cells and CD34-positive cells were 7.6×10 8 /kg and 6.2×10 6 /kg, respectively. He received G-CSF from 7 days after stem cell infusion and the nadir of white blood cells (0.09×10 9 /L) occurred 12 days after transplantation. The number of days required for absolute neutrophil count of more than 0.5×10 9 /L and 1.0× 10 9 /L were 14 days and 15 days, respectively, and spontaneous platelet recovery to more than 20×10 9 /L and 100× 10 9 /L required 16 days and 43 days, respectively. Grade I hematuria, grade II proteinuria, and grade II hepatic toxicity occurred during the transplantation but recovered spontaneously. No other serious complications occurred during transplantation. Grade II acute GVHD occurred 17 days after transplantation but resolved after the treatment with steroid. Bone marrow examination performed at one month post-transplantation revealed the donor type chimerism at 98.4% analyzed by short tandem repeat analysis and the normal polymerase chain reaction pattern in exons of the WAS gene ( Fig. 1 ). After 3 months of transplantation, complete donor type chimerism was achieved. Post-transplatation lymphoproliferative disease occurred 4 months after BMT but completely resolved with rituximab therapy. Chronic GVHD did not occur, and he is alive at 16 months after transplantation without any disease characteristics of WAS."}
|
Neurology
|
Neuro
|
[] |
2526489
|
{'CASE REPORT': "A 3-yr-old boy was admitted because of eczema, recurrent infection, and thrombocytopenia with a platelet count less than 10×10 9 /L and was diagnosed as having WAS with a large deletion in the exon 1 to 11 of the WAS gene ( Fig. 1 ). For the detection of mutation, the following primers were used; exon 1 forward 5'-GGT TTT TTG CAT TTC CTG TTC-3' and exon 1 reverse 5'-AGG AAG AGG AAG AAA CGG TG-3', exon 2 forward 5'-CCT GAC CAG ACT CCA CTG AC-3' and exon 2 reverse 5'-CTT GAA GCT ATG GAC ACA TAT G-3', exon 3 forward 5'CCT CAG TGC CAC TGT GCC TC3' and exon 3 reverse 5'-TTC CCA TCT CCT CTC CAC AC-3', exon 4 forward 5'-GTG TGG AGA GGA GAT GGG AA-3' and exon 4 reverse 5'-CAC TCA CCT CTG CCC AAC TT-3', exon 5 forward 5'-AAG TTG GGC AGA GGT GAG TG-3' and exon 5 reverse 5'-AGA GAG TTA TCA CAG CCC TG-3', exon 6 forward 5'-GGC TGT GAT AAC TCT CTA CA-3' and exon 6 reverse 5'-CCA TCC ATC CAG AGA CAC AG-3', exon 7 forward 5'-TGG TAA GTG GGT CAA TGA GC-3' and exon 7 reverse 5'-CAG CTG TCC ACT TGT TCA TG-3', exon 8 forward 5'-AAG GAA GGG CAG TGA GGA TT-3'and exon 8 reverse 5'-GGT GGA AGT TTA GTG GAG TC-3', exon 9 forward 5'-CGC CTT ATT CCT CTA CTC CT-3'and exon 9 reverse 5'-GAC TGA GTG ACT TAG TGC GT-3', exon 10-1 forward 5'-TCA GTC AGG AGT TGG TCA GT-3'and exon 10-1 reverse 5'-GTC CAG AAC GTC CAG TAG CT-3', exon 10-2 forward 5'-CAG CTA CTG GAC GTT CTG GA-3'and exon 10-2 reverse 5'-CAG TAT CCT GAC TTA GAC GG-3', exon 11 forward 5'-GAG AAA TGC TCC TTT CCC AG-3'and exon 11 reverse 5'-TAG CCC TGG GAG CCA GGT TT-3', exon 12 forward 5'-CTC CCA GGG CAT CTT ATC TT-3'and exon 12 reverse 5'-AGC ACA GGG CAG CAA GTA AC-3'. He received transplantation from an HLA-A, B, C, DR, and DQ-matched unrelated male donor confirmed by a high-resolution molecular method, after the conditioning regimen composed of fludarabine (40 mg/m 2 on days -8, -7, -6, -5, -4, -3), busulfan (0.8 mg/kg i.v. q 6 hr on days -6, -5, -4, -3), and thymoglobulin (2.5 mg/kg on days -4, -3, -2). Written informed consent was obtained from parents of the patient before transplantation. Graft versus host disease (GVHD) prophylaxis was composed of cyclosporin, methotrexate (15 mg/kg on day 1, 10 mg/kg on days 3 and 6), and thymoglobulin (1.25 mg/kg on days 7, 9, 11). Other supportive care was performed according to the guideline for stem cell transplantation of our center ( 6 ). The number of infused nucleated cells and CD34-positive cells were 7.6×10 8 /kg and 6.2×10 6 /kg, respectively. He received G-CSF from 7 days after stem cell infusion and the nadir of white blood cells (0.09×10 9 /L) occurred 12 days after transplantation. The number of days required for absolute neutrophil count of more than 0.5×10 9 /L and 1.0× 10 9 /L were 14 days and 15 days, respectively, and spontaneous platelet recovery to more than 20×10 9 /L and 100× 10 9 /L required 16 days and 43 days, respectively. Grade I hematuria, grade II proteinuria, and grade II hepatic toxicity occurred during the transplantation but recovered spontaneously. No other serious complications occurred during transplantation. Grade II acute GVHD occurred 17 days after transplantation but resolved after the treatment with steroid. Bone marrow examination performed at one month post-transplantation revealed the donor type chimerism at 98.4% analyzed by short tandem repeat analysis and the normal polymerase chain reaction pattern in exons of the WAS gene ( Fig. 1 ). After 3 months of transplantation, complete donor type chimerism was achieved. Post-transplatation lymphoproliferative disease occurred 4 months after BMT but completely resolved with rituximab therapy. Chronic GVHD did not occur, and he is alive at 16 months after transplantation without any disease characteristics of WAS."}
|
{'CASE REPORT': "A 3-yr-old boy was admitted because of eczema, recurrent infection, and thrombocytopenia with a platelet count less than 10×10 9 /L and was diagnosed as having WAS with a large deletion in the exon 1 to 11 of the WAS gene ( Fig. 1 ). For the detection of mutation, the following primers were used; exon 1 forward 5'-GGT TTT TTG CAT TTC CTG TTC-3' and exon 1 reverse 5'-AGG AAG AGG AAG AAA CGG TG-3', exon 2 forward 5'-CCT GAC CAG ACT CCA CTG AC-3' and exon 2 reverse 5'-CTT GAA GCT ATG GAC ACA TAT G-3', exon 3 forward 5'CCT CAG TGC CAC TGT GCC TC3' and exon 3 reverse 5'-TTC CCA TCT CCT CTC CAC AC-3', exon 4 forward 5'-GTG TGG AGA GGA GAT GGG AA-3' and exon 4 reverse 5'-CAC TCA CCT CTG CCC AAC TT-3', exon 5 forward 5'-AAG TTG GGC AGA GGT GAG TG-3' and exon 5 reverse 5'-AGA GAG TTA TCA CAG CCC TG-3', exon 6 forward 5'-GGC TGT GAT AAC TCT CTA CA-3' and exon 6 reverse 5'-CCA TCC ATC CAG AGA CAC AG-3', exon 7 forward 5'-TGG TAA GTG GGT CAA TGA GC-3' and exon 7 reverse 5'-CAG CTG TCC ACT TGT TCA TG-3', exon 8 forward 5'-AAG GAA GGG CAG TGA GGA TT-3'and exon 8 reverse 5'-GGT GGA AGT TTA GTG GAG TC-3', exon 9 forward 5'-CGC CTT ATT CCT CTA CTC CT-3'and exon 9 reverse 5'-GAC TGA GTG ACT TAG TGC GT-3', exon 10-1 forward 5'-TCA GTC AGG AGT TGG TCA GT-3'and exon 10-1 reverse 5'-GTC CAG AAC GTC CAG TAG CT-3', exon 10-2 forward 5'-CAG CTA CTG GAC GTT CTG GA-3'and exon 10-2 reverse 5'-CAG TAT CCT GAC TTA GAC GG-3', exon 11 forward 5'-GAG AAA TGC TCC TTT CCC AG-3'and exon 11 reverse 5'-TAG CCC TGG GAG CCA GGT TT-3', exon 12 forward 5'-CTC CCA GGG CAT CTT ATC TT-3'and exon 12 reverse 5'-AGC ACA GGG CAG CAA GTA AC-3'. He received transplantation from an HLA-A, B, C, DR, and DQ-matched unrelated male donor confirmed by a high-resolution molecular method, after the conditioning regimen composed of fludarabine (40 mg/m 2 on days -8, -7, -6, -5, -4, -3), busulfan (0.8 mg/kg i.v. q 6 hr on days -6, -5, -4, -3), and thymoglobulin (2.5 mg/kg on days -4, -3, -2). Written informed consent was obtained from parents of the patient before transplantation. Graft versus host disease (GVHD) prophylaxis was composed of cyclosporin, methotrexate (15 mg/kg on day 1, 10 mg/kg on days 3 and 6), and thymoglobulin (1.25 mg/kg on days 7, 9, 11). Other supportive care was performed according to the guideline for stem cell transplantation of our center ( 6 ). The number of infused nucleated cells and CD34-positive cells were 7.6×10 8 /kg and 6.2×10 6 /kg, respectively. He received G-CSF from 7 days after stem cell infusion and the nadir of white blood cells (0.09×10 9 /L) occurred 12 days after transplantation. The number of days required for absolute neutrophil count of more than 0.5×10 9 /L and 1.0× 10 9 /L were 14 days and 15 days, respectively, and spontaneous platelet recovery to more than 20×10 9 /L and 100× 10 9 /L required 16 days and 43 days, respectively. Grade I hematuria, grade II proteinuria, and grade II hepatic toxicity occurred during the transplantation but recovered spontaneously. No other serious complications occurred during transplantation. Grade II acute GVHD occurred 17 days after transplantation but resolved after the treatment with steroid. Bone marrow examination performed at one month post-transplantation revealed the donor type chimerism at 98.4% analyzed by short tandem repeat analysis and the normal polymerase chain reaction pattern in exons of the WAS gene ( Fig. 1 ). After 3 months of transplantation, complete donor type chimerism was achieved. Post-transplatation lymphoproliferative disease occurred 4 months after BMT but completely resolved with rituximab therapy. Chronic GVHD did not occur, and he is alive at 16 months after transplantation without any disease characteristics of WAS."}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"large deletion in the exon 1 to 11 of the WAS gene"
] |
2526489
|
{'CASE REPORT': "A 3-yr-old boy was admitted because of eczema, recurrent infection, and thrombocytopenia with a platelet count less than 10×10 9 /L and was diagnosed as having WAS with a large deletion in the exon 1 to 11 of the WAS gene ( Fig. 1 ). For the detection of mutation, the following primers were used; exon 1 forward 5'-GGT TTT TTG CAT TTC CTG TTC-3' and exon 1 reverse 5'-AGG AAG AGG AAG AAA CGG TG-3', exon 2 forward 5'-CCT GAC CAG ACT CCA CTG AC-3' and exon 2 reverse 5'-CTT GAA GCT ATG GAC ACA TAT G-3', exon 3 forward 5'CCT CAG TGC CAC TGT GCC TC3' and exon 3 reverse 5'-TTC CCA TCT CCT CTC CAC AC-3', exon 4 forward 5'-GTG TGG AGA GGA GAT GGG AA-3' and exon 4 reverse 5'-CAC TCA CCT CTG CCC AAC TT-3', exon 5 forward 5'-AAG TTG GGC AGA GGT GAG TG-3' and exon 5 reverse 5'-AGA GAG TTA TCA CAG CCC TG-3', exon 6 forward 5'-GGC TGT GAT AAC TCT CTA CA-3' and exon 6 reverse 5'-CCA TCC ATC CAG AGA CAC AG-3', exon 7 forward 5'-TGG TAA GTG GGT CAA TGA GC-3' and exon 7 reverse 5'-CAG CTG TCC ACT TGT TCA TG-3', exon 8 forward 5'-AAG GAA GGG CAG TGA GGA TT-3'and exon 8 reverse 5'-GGT GGA AGT TTA GTG GAG TC-3', exon 9 forward 5'-CGC CTT ATT CCT CTA CTC CT-3'and exon 9 reverse 5'-GAC TGA GTG ACT TAG TGC GT-3', exon 10-1 forward 5'-TCA GTC AGG AGT TGG TCA GT-3'and exon 10-1 reverse 5'-GTC CAG AAC GTC CAG TAG CT-3', exon 10-2 forward 5'-CAG CTA CTG GAC GTT CTG GA-3'and exon 10-2 reverse 5'-CAG TAT CCT GAC TTA GAC GG-3', exon 11 forward 5'-GAG AAA TGC TCC TTT CCC AG-3'and exon 11 reverse 5'-TAG CCC TGG GAG CCA GGT TT-3', exon 12 forward 5'-CTC CCA GGG CAT CTT ATC TT-3'and exon 12 reverse 5'-AGC ACA GGG CAG CAA GTA AC-3'. He received transplantation from an HLA-A, B, C, DR, and DQ-matched unrelated male donor confirmed by a high-resolution molecular method, after the conditioning regimen composed of fludarabine (40 mg/m 2 on days -8, -7, -6, -5, -4, -3), busulfan (0.8 mg/kg i.v. q 6 hr on days -6, -5, -4, -3), and thymoglobulin (2.5 mg/kg on days -4, -3, -2). Written informed consent was obtained from parents of the patient before transplantation. Graft versus host disease (GVHD) prophylaxis was composed of cyclosporin, methotrexate (15 mg/kg on day 1, 10 mg/kg on days 3 and 6), and thymoglobulin (1.25 mg/kg on days 7, 9, 11). Other supportive care was performed according to the guideline for stem cell transplantation of our center ( 6 ). The number of infused nucleated cells and CD34-positive cells were 7.6×10 8 /kg and 6.2×10 6 /kg, respectively. He received G-CSF from 7 days after stem cell infusion and the nadir of white blood cells (0.09×10 9 /L) occurred 12 days after transplantation. The number of days required for absolute neutrophil count of more than 0.5×10 9 /L and 1.0× 10 9 /L were 14 days and 15 days, respectively, and spontaneous platelet recovery to more than 20×10 9 /L and 100× 10 9 /L required 16 days and 43 days, respectively. Grade I hematuria, grade II proteinuria, and grade II hepatic toxicity occurred during the transplantation but recovered spontaneously. No other serious complications occurred during transplantation. Grade II acute GVHD occurred 17 days after transplantation but resolved after the treatment with steroid. Bone marrow examination performed at one month post-transplantation revealed the donor type chimerism at 98.4% analyzed by short tandem repeat analysis and the normal polymerase chain reaction pattern in exons of the WAS gene ( Fig. 1 ). After 3 months of transplantation, complete donor type chimerism was achieved. Post-transplatation lymphoproliferative disease occurred 4 months after BMT but completely resolved with rituximab therapy. Chronic GVHD did not occur, and he is alive at 16 months after transplantation without any disease characteristics of WAS."}
|
{'CASE REPORT': "A 3-yr-old boy was admitted because of eczema, recurrent infection, and thrombocytopenia with a platelet count less than 10×10 9 /L and was diagnosed as having WAS with a large deletion in the exon 1 to 11 of the WAS gene ( Fig. 1 ). For the detection of mutation, the following primers were used; exon 1 forward 5'-GGT TTT TTG CAT TTC CTG TTC-3' and exon 1 reverse 5'-AGG AAG AGG AAG AAA CGG TG-3', exon 2 forward 5'-CCT GAC CAG ACT CCA CTG AC-3' and exon 2 reverse 5'-CTT GAA GCT ATG GAC ACA TAT G-3', exon 3 forward 5'CCT CAG TGC CAC TGT GCC TC3' and exon 3 reverse 5'-TTC CCA TCT CCT CTC CAC AC-3', exon 4 forward 5'-GTG TGG AGA GGA GAT GGG AA-3' and exon 4 reverse 5'-CAC TCA CCT CTG CCC AAC TT-3', exon 5 forward 5'-AAG TTG GGC AGA GGT GAG TG-3' and exon 5 reverse 5'-AGA GAG TTA TCA CAG CCC TG-3', exon 6 forward 5'-GGC TGT GAT AAC TCT CTA CA-3' and exon 6 reverse 5'-CCA TCC ATC CAG AGA CAC AG-3', exon 7 forward 5'-TGG TAA GTG GGT CAA TGA GC-3' and exon 7 reverse 5'-CAG CTG TCC ACT TGT TCA TG-3', exon 8 forward 5'-AAG GAA GGG CAG TGA GGA TT-3'and exon 8 reverse 5'-GGT GGA AGT TTA GTG GAG TC-3', exon 9 forward 5'-CGC CTT ATT CCT CTA CTC CT-3'and exon 9 reverse 5'-GAC TGA GTG ACT TAG TGC GT-3', exon 10-1 forward 5'-TCA GTC AGG AGT TGG TCA GT-3'and exon 10-1 reverse 5'-GTC CAG AAC GTC CAG TAG CT-3', exon 10-2 forward 5'-CAG CTA CTG GAC GTT CTG GA-3'and exon 10-2 reverse 5'-CAG TAT CCT GAC TTA GAC GG-3', exon 11 forward 5'-GAG AAA TGC TCC TTT CCC AG-3'and exon 11 reverse 5'-TAG CCC TGG GAG CCA GGT TT-3', exon 12 forward 5'-CTC CCA GGG CAT CTT ATC TT-3'and exon 12 reverse 5'-AGC ACA GGG CAG CAA GTA AC-3'. He received transplantation from an HLA-A, B, C, DR, and DQ-matched unrelated male donor confirmed by a high-resolution molecular method, after the conditioning regimen composed of fludarabine (40 mg/m 2 on days -8, -7, -6, -5, -4, -3), busulfan (0.8 mg/kg i.v. q 6 hr on days -6, -5, -4, -3), and thymoglobulin (2.5 mg/kg on days -4, -3, -2). Written informed consent was obtained from parents of the patient before transplantation. Graft versus host disease (GVHD) prophylaxis was composed of cyclosporin, methotrexate (15 mg/kg on day 1, 10 mg/kg on days 3 and 6), and thymoglobulin (1.25 mg/kg on days 7, 9, 11). Other supportive care was performed according to the guideline for stem cell transplantation of our center ( 6 ). The number of infused nucleated cells and CD34-positive cells were 7.6×10 8 /kg and 6.2×10 6 /kg, respectively. He received G-CSF from 7 days after stem cell infusion and the nadir of white blood cells (0.09×10 9 /L) occurred 12 days after transplantation. The number of days required for absolute neutrophil count of more than 0.5×10 9 /L and 1.0× 10 9 /L were 14 days and 15 days, respectively, and spontaneous platelet recovery to more than 20×10 9 /L and 100× 10 9 /L required 16 days and 43 days, respectively. Grade I hematuria, grade II proteinuria, and grade II hepatic toxicity occurred during the transplantation but recovered spontaneously. No other serious complications occurred during transplantation. Grade II acute GVHD occurred 17 days after transplantation but resolved after the treatment with steroid. Bone marrow examination performed at one month post-transplantation revealed the donor type chimerism at 98.4% analyzed by short tandem repeat analysis and the normal polymerase chain reaction pattern in exons of the WAS gene ( Fig. 1 ). After 3 months of transplantation, complete donor type chimerism was achieved. Post-transplatation lymphoproliferative disease occurred 4 months after BMT but completely resolved with rituximab therapy. Chronic GVHD did not occur, and he is alive at 16 months after transplantation without any disease characteristics of WAS."}
|
Cardiovascular-System
|
CVS
|
[] |
2526489
|
{'CASE REPORT': "A 3-yr-old boy was admitted because of eczema, recurrent infection, and thrombocytopenia with a platelet count less than 10×10 9 /L and was diagnosed as having WAS with a large deletion in the exon 1 to 11 of the WAS gene ( Fig. 1 ). For the detection of mutation, the following primers were used; exon 1 forward 5'-GGT TTT TTG CAT TTC CTG TTC-3' and exon 1 reverse 5'-AGG AAG AGG AAG AAA CGG TG-3', exon 2 forward 5'-CCT GAC CAG ACT CCA CTG AC-3' and exon 2 reverse 5'-CTT GAA GCT ATG GAC ACA TAT G-3', exon 3 forward 5'CCT CAG TGC CAC TGT GCC TC3' and exon 3 reverse 5'-TTC CCA TCT CCT CTC CAC AC-3', exon 4 forward 5'-GTG TGG AGA GGA GAT GGG AA-3' and exon 4 reverse 5'-CAC TCA CCT CTG CCC AAC TT-3', exon 5 forward 5'-AAG TTG GGC AGA GGT GAG TG-3' and exon 5 reverse 5'-AGA GAG TTA TCA CAG CCC TG-3', exon 6 forward 5'-GGC TGT GAT AAC TCT CTA CA-3' and exon 6 reverse 5'-CCA TCC ATC CAG AGA CAC AG-3', exon 7 forward 5'-TGG TAA GTG GGT CAA TGA GC-3' and exon 7 reverse 5'-CAG CTG TCC ACT TGT TCA TG-3', exon 8 forward 5'-AAG GAA GGG CAG TGA GGA TT-3'and exon 8 reverse 5'-GGT GGA AGT TTA GTG GAG TC-3', exon 9 forward 5'-CGC CTT ATT CCT CTA CTC CT-3'and exon 9 reverse 5'-GAC TGA GTG ACT TAG TGC GT-3', exon 10-1 forward 5'-TCA GTC AGG AGT TGG TCA GT-3'and exon 10-1 reverse 5'-GTC CAG AAC GTC CAG TAG CT-3', exon 10-2 forward 5'-CAG CTA CTG GAC GTT CTG GA-3'and exon 10-2 reverse 5'-CAG TAT CCT GAC TTA GAC GG-3', exon 11 forward 5'-GAG AAA TGC TCC TTT CCC AG-3'and exon 11 reverse 5'-TAG CCC TGG GAG CCA GGT TT-3', exon 12 forward 5'-CTC CCA GGG CAT CTT ATC TT-3'and exon 12 reverse 5'-AGC ACA GGG CAG CAA GTA AC-3'. He received transplantation from an HLA-A, B, C, DR, and DQ-matched unrelated male donor confirmed by a high-resolution molecular method, after the conditioning regimen composed of fludarabine (40 mg/m 2 on days -8, -7, -6, -5, -4, -3), busulfan (0.8 mg/kg i.v. q 6 hr on days -6, -5, -4, -3), and thymoglobulin (2.5 mg/kg on days -4, -3, -2). Written informed consent was obtained from parents of the patient before transplantation. Graft versus host disease (GVHD) prophylaxis was composed of cyclosporin, methotrexate (15 mg/kg on day 1, 10 mg/kg on days 3 and 6), and thymoglobulin (1.25 mg/kg on days 7, 9, 11). Other supportive care was performed according to the guideline for stem cell transplantation of our center ( 6 ). The number of infused nucleated cells and CD34-positive cells were 7.6×10 8 /kg and 6.2×10 6 /kg, respectively. He received G-CSF from 7 days after stem cell infusion and the nadir of white blood cells (0.09×10 9 /L) occurred 12 days after transplantation. The number of days required for absolute neutrophil count of more than 0.5×10 9 /L and 1.0× 10 9 /L were 14 days and 15 days, respectively, and spontaneous platelet recovery to more than 20×10 9 /L and 100× 10 9 /L required 16 days and 43 days, respectively. Grade I hematuria, grade II proteinuria, and grade II hepatic toxicity occurred during the transplantation but recovered spontaneously. No other serious complications occurred during transplantation. Grade II acute GVHD occurred 17 days after transplantation but resolved after the treatment with steroid. Bone marrow examination performed at one month post-transplantation revealed the donor type chimerism at 98.4% analyzed by short tandem repeat analysis and the normal polymerase chain reaction pattern in exons of the WAS gene ( Fig. 1 ). After 3 months of transplantation, complete donor type chimerism was achieved. Post-transplatation lymphoproliferative disease occurred 4 months after BMT but completely resolved with rituximab therapy. Chronic GVHD did not occur, and he is alive at 16 months after transplantation without any disease characteristics of WAS."}
|
{'CASE REPORT': "A 3-yr-old boy was admitted because of eczema, recurrent infection, and thrombocytopenia with a platelet count less than 10×10 9 /L and was diagnosed as having WAS with a large deletion in the exon 1 to 11 of the WAS gene ( Fig. 1 ). For the detection of mutation, the following primers were used; exon 1 forward 5'-GGT TTT TTG CAT TTC CTG TTC-3' and exon 1 reverse 5'-AGG AAG AGG AAG AAA CGG TG-3', exon 2 forward 5'-CCT GAC CAG ACT CCA CTG AC-3' and exon 2 reverse 5'-CTT GAA GCT ATG GAC ACA TAT G-3', exon 3 forward 5'CCT CAG TGC CAC TGT GCC TC3' and exon 3 reverse 5'-TTC CCA TCT CCT CTC CAC AC-3', exon 4 forward 5'-GTG TGG AGA GGA GAT GGG AA-3' and exon 4 reverse 5'-CAC TCA CCT CTG CCC AAC TT-3', exon 5 forward 5'-AAG TTG GGC AGA GGT GAG TG-3' and exon 5 reverse 5'-AGA GAG TTA TCA CAG CCC TG-3', exon 6 forward 5'-GGC TGT GAT AAC TCT CTA CA-3' and exon 6 reverse 5'-CCA TCC ATC CAG AGA CAC AG-3', exon 7 forward 5'-TGG TAA GTG GGT CAA TGA GC-3' and exon 7 reverse 5'-CAG CTG TCC ACT TGT TCA TG-3', exon 8 forward 5'-AAG GAA GGG CAG TGA GGA TT-3'and exon 8 reverse 5'-GGT GGA AGT TTA GTG GAG TC-3', exon 9 forward 5'-CGC CTT ATT CCT CTA CTC CT-3'and exon 9 reverse 5'-GAC TGA GTG ACT TAG TGC GT-3', exon 10-1 forward 5'-TCA GTC AGG AGT TGG TCA GT-3'and exon 10-1 reverse 5'-GTC CAG AAC GTC CAG TAG CT-3', exon 10-2 forward 5'-CAG CTA CTG GAC GTT CTG GA-3'and exon 10-2 reverse 5'-CAG TAT CCT GAC TTA GAC GG-3', exon 11 forward 5'-GAG AAA TGC TCC TTT CCC AG-3'and exon 11 reverse 5'-TAG CCC TGG GAG CCA GGT TT-3', exon 12 forward 5'-CTC CCA GGG CAT CTT ATC TT-3'and exon 12 reverse 5'-AGC ACA GGG CAG CAA GTA AC-3'. He received transplantation from an HLA-A, B, C, DR, and DQ-matched unrelated male donor confirmed by a high-resolution molecular method, after the conditioning regimen composed of fludarabine (40 mg/m 2 on days -8, -7, -6, -5, -4, -3), busulfan (0.8 mg/kg i.v. q 6 hr on days -6, -5, -4, -3), and thymoglobulin (2.5 mg/kg on days -4, -3, -2). Written informed consent was obtained from parents of the patient before transplantation. Graft versus host disease (GVHD) prophylaxis was composed of cyclosporin, methotrexate (15 mg/kg on day 1, 10 mg/kg on days 3 and 6), and thymoglobulin (1.25 mg/kg on days 7, 9, 11). Other supportive care was performed according to the guideline for stem cell transplantation of our center ( 6 ). The number of infused nucleated cells and CD34-positive cells were 7.6×10 8 /kg and 6.2×10 6 /kg, respectively. He received G-CSF from 7 days after stem cell infusion and the nadir of white blood cells (0.09×10 9 /L) occurred 12 days after transplantation. The number of days required for absolute neutrophil count of more than 0.5×10 9 /L and 1.0× 10 9 /L were 14 days and 15 days, respectively, and spontaneous platelet recovery to more than 20×10 9 /L and 100× 10 9 /L required 16 days and 43 days, respectively. Grade I hematuria, grade II proteinuria, and grade II hepatic toxicity occurred during the transplantation but recovered spontaneously. No other serious complications occurred during transplantation. Grade II acute GVHD occurred 17 days after transplantation but resolved after the treatment with steroid. Bone marrow examination performed at one month post-transplantation revealed the donor type chimerism at 98.4% analyzed by short tandem repeat analysis and the normal polymerase chain reaction pattern in exons of the WAS gene ( Fig. 1 ). After 3 months of transplantation, complete donor type chimerism was achieved. Post-transplatation lymphoproliferative disease occurred 4 months after BMT but completely resolved with rituximab therapy. Chronic GVHD did not occur, and he is alive at 16 months after transplantation without any disease characteristics of WAS."}
|
Endocrinology
|
ENDO
|
[] |
2526489
|
{'CASE REPORT': "A 3-yr-old boy was admitted because of eczema, recurrent infection, and thrombocytopenia with a platelet count less than 10×10 9 /L and was diagnosed as having WAS with a large deletion in the exon 1 to 11 of the WAS gene ( Fig. 1 ). For the detection of mutation, the following primers were used; exon 1 forward 5'-GGT TTT TTG CAT TTC CTG TTC-3' and exon 1 reverse 5'-AGG AAG AGG AAG AAA CGG TG-3', exon 2 forward 5'-CCT GAC CAG ACT CCA CTG AC-3' and exon 2 reverse 5'-CTT GAA GCT ATG GAC ACA TAT G-3', exon 3 forward 5'CCT CAG TGC CAC TGT GCC TC3' and exon 3 reverse 5'-TTC CCA TCT CCT CTC CAC AC-3', exon 4 forward 5'-GTG TGG AGA GGA GAT GGG AA-3' and exon 4 reverse 5'-CAC TCA CCT CTG CCC AAC TT-3', exon 5 forward 5'-AAG TTG GGC AGA GGT GAG TG-3' and exon 5 reverse 5'-AGA GAG TTA TCA CAG CCC TG-3', exon 6 forward 5'-GGC TGT GAT AAC TCT CTA CA-3' and exon 6 reverse 5'-CCA TCC ATC CAG AGA CAC AG-3', exon 7 forward 5'-TGG TAA GTG GGT CAA TGA GC-3' and exon 7 reverse 5'-CAG CTG TCC ACT TGT TCA TG-3', exon 8 forward 5'-AAG GAA GGG CAG TGA GGA TT-3'and exon 8 reverse 5'-GGT GGA AGT TTA GTG GAG TC-3', exon 9 forward 5'-CGC CTT ATT CCT CTA CTC CT-3'and exon 9 reverse 5'-GAC TGA GTG ACT TAG TGC GT-3', exon 10-1 forward 5'-TCA GTC AGG AGT TGG TCA GT-3'and exon 10-1 reverse 5'-GTC CAG AAC GTC CAG TAG CT-3', exon 10-2 forward 5'-CAG CTA CTG GAC GTT CTG GA-3'and exon 10-2 reverse 5'-CAG TAT CCT GAC TTA GAC GG-3', exon 11 forward 5'-GAG AAA TGC TCC TTT CCC AG-3'and exon 11 reverse 5'-TAG CCC TGG GAG CCA GGT TT-3', exon 12 forward 5'-CTC CCA GGG CAT CTT ATC TT-3'and exon 12 reverse 5'-AGC ACA GGG CAG CAA GTA AC-3'. He received transplantation from an HLA-A, B, C, DR, and DQ-matched unrelated male donor confirmed by a high-resolution molecular method, after the conditioning regimen composed of fludarabine (40 mg/m 2 on days -8, -7, -6, -5, -4, -3), busulfan (0.8 mg/kg i.v. q 6 hr on days -6, -5, -4, -3), and thymoglobulin (2.5 mg/kg on days -4, -3, -2). Written informed consent was obtained from parents of the patient before transplantation. Graft versus host disease (GVHD) prophylaxis was composed of cyclosporin, methotrexate (15 mg/kg on day 1, 10 mg/kg on days 3 and 6), and thymoglobulin (1.25 mg/kg on days 7, 9, 11). Other supportive care was performed according to the guideline for stem cell transplantation of our center ( 6 ). The number of infused nucleated cells and CD34-positive cells were 7.6×10 8 /kg and 6.2×10 6 /kg, respectively. He received G-CSF from 7 days after stem cell infusion and the nadir of white blood cells (0.09×10 9 /L) occurred 12 days after transplantation. The number of days required for absolute neutrophil count of more than 0.5×10 9 /L and 1.0× 10 9 /L were 14 days and 15 days, respectively, and spontaneous platelet recovery to more than 20×10 9 /L and 100× 10 9 /L required 16 days and 43 days, respectively. Grade I hematuria, grade II proteinuria, and grade II hepatic toxicity occurred during the transplantation but recovered spontaneously. No other serious complications occurred during transplantation. Grade II acute GVHD occurred 17 days after transplantation but resolved after the treatment with steroid. Bone marrow examination performed at one month post-transplantation revealed the donor type chimerism at 98.4% analyzed by short tandem repeat analysis and the normal polymerase chain reaction pattern in exons of the WAS gene ( Fig. 1 ). After 3 months of transplantation, complete donor type chimerism was achieved. Post-transplatation lymphoproliferative disease occurred 4 months after BMT but completely resolved with rituximab therapy. Chronic GVHD did not occur, and he is alive at 16 months after transplantation without any disease characteristics of WAS."}
|
{'CASE REPORT': "A 3-yr-old boy was admitted because of eczema, recurrent infection, and thrombocytopenia with a platelet count less than 10×10 9 /L and was diagnosed as having WAS with a large deletion in the exon 1 to 11 of the WAS gene ( Fig. 1 ). For the detection of mutation, the following primers were used; exon 1 forward 5'-GGT TTT TTG CAT TTC CTG TTC-3' and exon 1 reverse 5'-AGG AAG AGG AAG AAA CGG TG-3', exon 2 forward 5'-CCT GAC CAG ACT CCA CTG AC-3' and exon 2 reverse 5'-CTT GAA GCT ATG GAC ACA TAT G-3', exon 3 forward 5'CCT CAG TGC CAC TGT GCC TC3' and exon 3 reverse 5'-TTC CCA TCT CCT CTC CAC AC-3', exon 4 forward 5'-GTG TGG AGA GGA GAT GGG AA-3' and exon 4 reverse 5'-CAC TCA CCT CTG CCC AAC TT-3', exon 5 forward 5'-AAG TTG GGC AGA GGT GAG TG-3' and exon 5 reverse 5'-AGA GAG TTA TCA CAG CCC TG-3', exon 6 forward 5'-GGC TGT GAT AAC TCT CTA CA-3' and exon 6 reverse 5'-CCA TCC ATC CAG AGA CAC AG-3', exon 7 forward 5'-TGG TAA GTG GGT CAA TGA GC-3' and exon 7 reverse 5'-CAG CTG TCC ACT TGT TCA TG-3', exon 8 forward 5'-AAG GAA GGG CAG TGA GGA TT-3'and exon 8 reverse 5'-GGT GGA AGT TTA GTG GAG TC-3', exon 9 forward 5'-CGC CTT ATT CCT CTA CTC CT-3'and exon 9 reverse 5'-GAC TGA GTG ACT TAG TGC GT-3', exon 10-1 forward 5'-TCA GTC AGG AGT TGG TCA GT-3'and exon 10-1 reverse 5'-GTC CAG AAC GTC CAG TAG CT-3', exon 10-2 forward 5'-CAG CTA CTG GAC GTT CTG GA-3'and exon 10-2 reverse 5'-CAG TAT CCT GAC TTA GAC GG-3', exon 11 forward 5'-GAG AAA TGC TCC TTT CCC AG-3'and exon 11 reverse 5'-TAG CCC TGG GAG CCA GGT TT-3', exon 12 forward 5'-CTC CCA GGG CAT CTT ATC TT-3'and exon 12 reverse 5'-AGC ACA GGG CAG CAA GTA AC-3'. He received transplantation from an HLA-A, B, C, DR, and DQ-matched unrelated male donor confirmed by a high-resolution molecular method, after the conditioning regimen composed of fludarabine (40 mg/m 2 on days -8, -7, -6, -5, -4, -3), busulfan (0.8 mg/kg i.v. q 6 hr on days -6, -5, -4, -3), and thymoglobulin (2.5 mg/kg on days -4, -3, -2). Written informed consent was obtained from parents of the patient before transplantation. Graft versus host disease (GVHD) prophylaxis was composed of cyclosporin, methotrexate (15 mg/kg on day 1, 10 mg/kg on days 3 and 6), and thymoglobulin (1.25 mg/kg on days 7, 9, 11). Other supportive care was performed according to the guideline for stem cell transplantation of our center ( 6 ). The number of infused nucleated cells and CD34-positive cells were 7.6×10 8 /kg and 6.2×10 6 /kg, respectively. He received G-CSF from 7 days after stem cell infusion and the nadir of white blood cells (0.09×10 9 /L) occurred 12 days after transplantation. The number of days required for absolute neutrophil count of more than 0.5×10 9 /L and 1.0× 10 9 /L were 14 days and 15 days, respectively, and spontaneous platelet recovery to more than 20×10 9 /L and 100× 10 9 /L required 16 days and 43 days, respectively. Grade I hematuria, grade II proteinuria, and grade II hepatic toxicity occurred during the transplantation but recovered spontaneously. No other serious complications occurred during transplantation. Grade II acute GVHD occurred 17 days after transplantation but resolved after the treatment with steroid. Bone marrow examination performed at one month post-transplantation revealed the donor type chimerism at 98.4% analyzed by short tandem repeat analysis and the normal polymerase chain reaction pattern in exons of the WAS gene ( Fig. 1 ). After 3 months of transplantation, complete donor type chimerism was achieved. Post-transplatation lymphoproliferative disease occurred 4 months after BMT but completely resolved with rituximab therapy. Chronic GVHD did not occur, and he is alive at 16 months after transplantation without any disease characteristics of WAS."}
|
Genitourinary-System
|
GU
|
[] |
2526489
|
{'CASE REPORT': "A 3-yr-old boy was admitted because of eczema, recurrent infection, and thrombocytopenia with a platelet count less than 10×10 9 /L and was diagnosed as having WAS with a large deletion in the exon 1 to 11 of the WAS gene ( Fig. 1 ). For the detection of mutation, the following primers were used; exon 1 forward 5'-GGT TTT TTG CAT TTC CTG TTC-3' and exon 1 reverse 5'-AGG AAG AGG AAG AAA CGG TG-3', exon 2 forward 5'-CCT GAC CAG ACT CCA CTG AC-3' and exon 2 reverse 5'-CTT GAA GCT ATG GAC ACA TAT G-3', exon 3 forward 5'CCT CAG TGC CAC TGT GCC TC3' and exon 3 reverse 5'-TTC CCA TCT CCT CTC CAC AC-3', exon 4 forward 5'-GTG TGG AGA GGA GAT GGG AA-3' and exon 4 reverse 5'-CAC TCA CCT CTG CCC AAC TT-3', exon 5 forward 5'-AAG TTG GGC AGA GGT GAG TG-3' and exon 5 reverse 5'-AGA GAG TTA TCA CAG CCC TG-3', exon 6 forward 5'-GGC TGT GAT AAC TCT CTA CA-3' and exon 6 reverse 5'-CCA TCC ATC CAG AGA CAC AG-3', exon 7 forward 5'-TGG TAA GTG GGT CAA TGA GC-3' and exon 7 reverse 5'-CAG CTG TCC ACT TGT TCA TG-3', exon 8 forward 5'-AAG GAA GGG CAG TGA GGA TT-3'and exon 8 reverse 5'-GGT GGA AGT TTA GTG GAG TC-3', exon 9 forward 5'-CGC CTT ATT CCT CTA CTC CT-3'and exon 9 reverse 5'-GAC TGA GTG ACT TAG TGC GT-3', exon 10-1 forward 5'-TCA GTC AGG AGT TGG TCA GT-3'and exon 10-1 reverse 5'-GTC CAG AAC GTC CAG TAG CT-3', exon 10-2 forward 5'-CAG CTA CTG GAC GTT CTG GA-3'and exon 10-2 reverse 5'-CAG TAT CCT GAC TTA GAC GG-3', exon 11 forward 5'-GAG AAA TGC TCC TTT CCC AG-3'and exon 11 reverse 5'-TAG CCC TGG GAG CCA GGT TT-3', exon 12 forward 5'-CTC CCA GGG CAT CTT ATC TT-3'and exon 12 reverse 5'-AGC ACA GGG CAG CAA GTA AC-3'. He received transplantation from an HLA-A, B, C, DR, and DQ-matched unrelated male donor confirmed by a high-resolution molecular method, after the conditioning regimen composed of fludarabine (40 mg/m 2 on days -8, -7, -6, -5, -4, -3), busulfan (0.8 mg/kg i.v. q 6 hr on days -6, -5, -4, -3), and thymoglobulin (2.5 mg/kg on days -4, -3, -2). Written informed consent was obtained from parents of the patient before transplantation. Graft versus host disease (GVHD) prophylaxis was composed of cyclosporin, methotrexate (15 mg/kg on day 1, 10 mg/kg on days 3 and 6), and thymoglobulin (1.25 mg/kg on days 7, 9, 11). Other supportive care was performed according to the guideline for stem cell transplantation of our center ( 6 ). The number of infused nucleated cells and CD34-positive cells were 7.6×10 8 /kg and 6.2×10 6 /kg, respectively. He received G-CSF from 7 days after stem cell infusion and the nadir of white blood cells (0.09×10 9 /L) occurred 12 days after transplantation. The number of days required for absolute neutrophil count of more than 0.5×10 9 /L and 1.0× 10 9 /L were 14 days and 15 days, respectively, and spontaneous platelet recovery to more than 20×10 9 /L and 100× 10 9 /L required 16 days and 43 days, respectively. Grade I hematuria, grade II proteinuria, and grade II hepatic toxicity occurred during the transplantation but recovered spontaneously. No other serious complications occurred during transplantation. Grade II acute GVHD occurred 17 days after transplantation but resolved after the treatment with steroid. Bone marrow examination performed at one month post-transplantation revealed the donor type chimerism at 98.4% analyzed by short tandem repeat analysis and the normal polymerase chain reaction pattern in exons of the WAS gene ( Fig. 1 ). After 3 months of transplantation, complete donor type chimerism was achieved. Post-transplatation lymphoproliferative disease occurred 4 months after BMT but completely resolved with rituximab therapy. Chronic GVHD did not occur, and he is alive at 16 months after transplantation without any disease characteristics of WAS."}
|
{'CASE REPORT': "A 3-yr-old boy was admitted because of eczema, recurrent infection, and thrombocytopenia with a platelet count less than 10×10 9 /L and was diagnosed as having WAS with a large deletion in the exon 1 to 11 of the WAS gene ( Fig. 1 ). For the detection of mutation, the following primers were used; exon 1 forward 5'-GGT TTT TTG CAT TTC CTG TTC-3' and exon 1 reverse 5'-AGG AAG AGG AAG AAA CGG TG-3', exon 2 forward 5'-CCT GAC CAG ACT CCA CTG AC-3' and exon 2 reverse 5'-CTT GAA GCT ATG GAC ACA TAT G-3', exon 3 forward 5'CCT CAG TGC CAC TGT GCC TC3' and exon 3 reverse 5'-TTC CCA TCT CCT CTC CAC AC-3', exon 4 forward 5'-GTG TGG AGA GGA GAT GGG AA-3' and exon 4 reverse 5'-CAC TCA CCT CTG CCC AAC TT-3', exon 5 forward 5'-AAG TTG GGC AGA GGT GAG TG-3' and exon 5 reverse 5'-AGA GAG TTA TCA CAG CCC TG-3', exon 6 forward 5'-GGC TGT GAT AAC TCT CTA CA-3' and exon 6 reverse 5'-CCA TCC ATC CAG AGA CAC AG-3', exon 7 forward 5'-TGG TAA GTG GGT CAA TGA GC-3' and exon 7 reverse 5'-CAG CTG TCC ACT TGT TCA TG-3', exon 8 forward 5'-AAG GAA GGG CAG TGA GGA TT-3'and exon 8 reverse 5'-GGT GGA AGT TTA GTG GAG TC-3', exon 9 forward 5'-CGC CTT ATT CCT CTA CTC CT-3'and exon 9 reverse 5'-GAC TGA GTG ACT TAG TGC GT-3', exon 10-1 forward 5'-TCA GTC AGG AGT TGG TCA GT-3'and exon 10-1 reverse 5'-GTC CAG AAC GTC CAG TAG CT-3', exon 10-2 forward 5'-CAG CTA CTG GAC GTT CTG GA-3'and exon 10-2 reverse 5'-CAG TAT CCT GAC TTA GAC GG-3', exon 11 forward 5'-GAG AAA TGC TCC TTT CCC AG-3'and exon 11 reverse 5'-TAG CCC TGG GAG CCA GGT TT-3', exon 12 forward 5'-CTC CCA GGG CAT CTT ATC TT-3'and exon 12 reverse 5'-AGC ACA GGG CAG CAA GTA AC-3'. He received transplantation from an HLA-A, B, C, DR, and DQ-matched unrelated male donor confirmed by a high-resolution molecular method, after the conditioning regimen composed of fludarabine (40 mg/m 2 on days -8, -7, -6, -5, -4, -3), busulfan (0.8 mg/kg i.v. q 6 hr on days -6, -5, -4, -3), and thymoglobulin (2.5 mg/kg on days -4, -3, -2). Written informed consent was obtained from parents of the patient before transplantation. Graft versus host disease (GVHD) prophylaxis was composed of cyclosporin, methotrexate (15 mg/kg on day 1, 10 mg/kg on days 3 and 6), and thymoglobulin (1.25 mg/kg on days 7, 9, 11). Other supportive care was performed according to the guideline for stem cell transplantation of our center ( 6 ). The number of infused nucleated cells and CD34-positive cells were 7.6×10 8 /kg and 6.2×10 6 /kg, respectively. He received G-CSF from 7 days after stem cell infusion and the nadir of white blood cells (0.09×10 9 /L) occurred 12 days after transplantation. The number of days required for absolute neutrophil count of more than 0.5×10 9 /L and 1.0× 10 9 /L were 14 days and 15 days, respectively, and spontaneous platelet recovery to more than 20×10 9 /L and 100× 10 9 /L required 16 days and 43 days, respectively. Grade I hematuria, grade II proteinuria, and grade II hepatic toxicity occurred during the transplantation but recovered spontaneously. No other serious complications occurred during transplantation. Grade II acute GVHD occurred 17 days after transplantation but resolved after the treatment with steroid. Bone marrow examination performed at one month post-transplantation revealed the donor type chimerism at 98.4% analyzed by short tandem repeat analysis and the normal polymerase chain reaction pattern in exons of the WAS gene ( Fig. 1 ). After 3 months of transplantation, complete donor type chimerism was achieved. Post-transplatation lymphoproliferative disease occurred 4 months after BMT but completely resolved with rituximab therapy. Chronic GVHD did not occur, and he is alive at 16 months after transplantation without any disease characteristics of WAS."}
|
Respiratory-System
|
RESP
|
[] |
2526489
|
{'CASE REPORT': "A 3-yr-old boy was admitted because of eczema, recurrent infection, and thrombocytopenia with a platelet count less than 10×10 9 /L and was diagnosed as having WAS with a large deletion in the exon 1 to 11 of the WAS gene ( Fig. 1 ). For the detection of mutation, the following primers were used; exon 1 forward 5'-GGT TTT TTG CAT TTC CTG TTC-3' and exon 1 reverse 5'-AGG AAG AGG AAG AAA CGG TG-3', exon 2 forward 5'-CCT GAC CAG ACT CCA CTG AC-3' and exon 2 reverse 5'-CTT GAA GCT ATG GAC ACA TAT G-3', exon 3 forward 5'CCT CAG TGC CAC TGT GCC TC3' and exon 3 reverse 5'-TTC CCA TCT CCT CTC CAC AC-3', exon 4 forward 5'-GTG TGG AGA GGA GAT GGG AA-3' and exon 4 reverse 5'-CAC TCA CCT CTG CCC AAC TT-3', exon 5 forward 5'-AAG TTG GGC AGA GGT GAG TG-3' and exon 5 reverse 5'-AGA GAG TTA TCA CAG CCC TG-3', exon 6 forward 5'-GGC TGT GAT AAC TCT CTA CA-3' and exon 6 reverse 5'-CCA TCC ATC CAG AGA CAC AG-3', exon 7 forward 5'-TGG TAA GTG GGT CAA TGA GC-3' and exon 7 reverse 5'-CAG CTG TCC ACT TGT TCA TG-3', exon 8 forward 5'-AAG GAA GGG CAG TGA GGA TT-3'and exon 8 reverse 5'-GGT GGA AGT TTA GTG GAG TC-3', exon 9 forward 5'-CGC CTT ATT CCT CTA CTC CT-3'and exon 9 reverse 5'-GAC TGA GTG ACT TAG TGC GT-3', exon 10-1 forward 5'-TCA GTC AGG AGT TGG TCA GT-3'and exon 10-1 reverse 5'-GTC CAG AAC GTC CAG TAG CT-3', exon 10-2 forward 5'-CAG CTA CTG GAC GTT CTG GA-3'and exon 10-2 reverse 5'-CAG TAT CCT GAC TTA GAC GG-3', exon 11 forward 5'-GAG AAA TGC TCC TTT CCC AG-3'and exon 11 reverse 5'-TAG CCC TGG GAG CCA GGT TT-3', exon 12 forward 5'-CTC CCA GGG CAT CTT ATC TT-3'and exon 12 reverse 5'-AGC ACA GGG CAG CAA GTA AC-3'. He received transplantation from an HLA-A, B, C, DR, and DQ-matched unrelated male donor confirmed by a high-resolution molecular method, after the conditioning regimen composed of fludarabine (40 mg/m 2 on days -8, -7, -6, -5, -4, -3), busulfan (0.8 mg/kg i.v. q 6 hr on days -6, -5, -4, -3), and thymoglobulin (2.5 mg/kg on days -4, -3, -2). Written informed consent was obtained from parents of the patient before transplantation. Graft versus host disease (GVHD) prophylaxis was composed of cyclosporin, methotrexate (15 mg/kg on day 1, 10 mg/kg on days 3 and 6), and thymoglobulin (1.25 mg/kg on days 7, 9, 11). Other supportive care was performed according to the guideline for stem cell transplantation of our center ( 6 ). The number of infused nucleated cells and CD34-positive cells were 7.6×10 8 /kg and 6.2×10 6 /kg, respectively. He received G-CSF from 7 days after stem cell infusion and the nadir of white blood cells (0.09×10 9 /L) occurred 12 days after transplantation. The number of days required for absolute neutrophil count of more than 0.5×10 9 /L and 1.0× 10 9 /L were 14 days and 15 days, respectively, and spontaneous platelet recovery to more than 20×10 9 /L and 100× 10 9 /L required 16 days and 43 days, respectively. Grade I hematuria, grade II proteinuria, and grade II hepatic toxicity occurred during the transplantation but recovered spontaneously. No other serious complications occurred during transplantation. Grade II acute GVHD occurred 17 days after transplantation but resolved after the treatment with steroid. Bone marrow examination performed at one month post-transplantation revealed the donor type chimerism at 98.4% analyzed by short tandem repeat analysis and the normal polymerase chain reaction pattern in exons of the WAS gene ( Fig. 1 ). After 3 months of transplantation, complete donor type chimerism was achieved. Post-transplatation lymphoproliferative disease occurred 4 months after BMT but completely resolved with rituximab therapy. Chronic GVHD did not occur, and he is alive at 16 months after transplantation without any disease characteristics of WAS."}
|
{'CASE REPORT': "A 3-yr-old boy was admitted because of eczema, recurrent infection, and thrombocytopenia with a platelet count less than 10×10 9 /L and was diagnosed as having WAS with a large deletion in the exon 1 to 11 of the WAS gene ( Fig. 1 ). For the detection of mutation, the following primers were used; exon 1 forward 5'-GGT TTT TTG CAT TTC CTG TTC-3' and exon 1 reverse 5'-AGG AAG AGG AAG AAA CGG TG-3', exon 2 forward 5'-CCT GAC CAG ACT CCA CTG AC-3' and exon 2 reverse 5'-CTT GAA GCT ATG GAC ACA TAT G-3', exon 3 forward 5'CCT CAG TGC CAC TGT GCC TC3' and exon 3 reverse 5'-TTC CCA TCT CCT CTC CAC AC-3', exon 4 forward 5'-GTG TGG AGA GGA GAT GGG AA-3' and exon 4 reverse 5'-CAC TCA CCT CTG CCC AAC TT-3', exon 5 forward 5'-AAG TTG GGC AGA GGT GAG TG-3' and exon 5 reverse 5'-AGA GAG TTA TCA CAG CCC TG-3', exon 6 forward 5'-GGC TGT GAT AAC TCT CTA CA-3' and exon 6 reverse 5'-CCA TCC ATC CAG AGA CAC AG-3', exon 7 forward 5'-TGG TAA GTG GGT CAA TGA GC-3' and exon 7 reverse 5'-CAG CTG TCC ACT TGT TCA TG-3', exon 8 forward 5'-AAG GAA GGG CAG TGA GGA TT-3'and exon 8 reverse 5'-GGT GGA AGT TTA GTG GAG TC-3', exon 9 forward 5'-CGC CTT ATT CCT CTA CTC CT-3'and exon 9 reverse 5'-GAC TGA GTG ACT TAG TGC GT-3', exon 10-1 forward 5'-TCA GTC AGG AGT TGG TCA GT-3'and exon 10-1 reverse 5'-GTC CAG AAC GTC CAG TAG CT-3', exon 10-2 forward 5'-CAG CTA CTG GAC GTT CTG GA-3'and exon 10-2 reverse 5'-CAG TAT CCT GAC TTA GAC GG-3', exon 11 forward 5'-GAG AAA TGC TCC TTT CCC AG-3'and exon 11 reverse 5'-TAG CCC TGG GAG CCA GGT TT-3', exon 12 forward 5'-CTC CCA GGG CAT CTT ATC TT-3'and exon 12 reverse 5'-AGC ACA GGG CAG CAA GTA AC-3'. He received transplantation from an HLA-A, B, C, DR, and DQ-matched unrelated male donor confirmed by a high-resolution molecular method, after the conditioning regimen composed of fludarabine (40 mg/m 2 on days -8, -7, -6, -5, -4, -3), busulfan (0.8 mg/kg i.v. q 6 hr on days -6, -5, -4, -3), and thymoglobulin (2.5 mg/kg on days -4, -3, -2). Written informed consent was obtained from parents of the patient before transplantation. Graft versus host disease (GVHD) prophylaxis was composed of cyclosporin, methotrexate (15 mg/kg on day 1, 10 mg/kg on days 3 and 6), and thymoglobulin (1.25 mg/kg on days 7, 9, 11). Other supportive care was performed according to the guideline for stem cell transplantation of our center ( 6 ). The number of infused nucleated cells and CD34-positive cells were 7.6×10 8 /kg and 6.2×10 6 /kg, respectively. He received G-CSF from 7 days after stem cell infusion and the nadir of white blood cells (0.09×10 9 /L) occurred 12 days after transplantation. The number of days required for absolute neutrophil count of more than 0.5×10 9 /L and 1.0× 10 9 /L were 14 days and 15 days, respectively, and spontaneous platelet recovery to more than 20×10 9 /L and 100× 10 9 /L required 16 days and 43 days, respectively. Grade I hematuria, grade II proteinuria, and grade II hepatic toxicity occurred during the transplantation but recovered spontaneously. No other serious complications occurred during transplantation. Grade II acute GVHD occurred 17 days after transplantation but resolved after the treatment with steroid. Bone marrow examination performed at one month post-transplantation revealed the donor type chimerism at 98.4% analyzed by short tandem repeat analysis and the normal polymerase chain reaction pattern in exons of the WAS gene ( Fig. 1 ). After 3 months of transplantation, complete donor type chimerism was achieved. Post-transplatation lymphoproliferative disease occurred 4 months after BMT but completely resolved with rituximab therapy. Chronic GVHD did not occur, and he is alive at 16 months after transplantation without any disease characteristics of WAS."}
|
Musculoskeletal-System
|
MSK
|
[] |
2526489
|
{'CASE REPORT': "A 3-yr-old boy was admitted because of eczema, recurrent infection, and thrombocytopenia with a platelet count less than 10×10 9 /L and was diagnosed as having WAS with a large deletion in the exon 1 to 11 of the WAS gene ( Fig. 1 ). For the detection of mutation, the following primers were used; exon 1 forward 5'-GGT TTT TTG CAT TTC CTG TTC-3' and exon 1 reverse 5'-AGG AAG AGG AAG AAA CGG TG-3', exon 2 forward 5'-CCT GAC CAG ACT CCA CTG AC-3' and exon 2 reverse 5'-CTT GAA GCT ATG GAC ACA TAT G-3', exon 3 forward 5'CCT CAG TGC CAC TGT GCC TC3' and exon 3 reverse 5'-TTC CCA TCT CCT CTC CAC AC-3', exon 4 forward 5'-GTG TGG AGA GGA GAT GGG AA-3' and exon 4 reverse 5'-CAC TCA CCT CTG CCC AAC TT-3', exon 5 forward 5'-AAG TTG GGC AGA GGT GAG TG-3' and exon 5 reverse 5'-AGA GAG TTA TCA CAG CCC TG-3', exon 6 forward 5'-GGC TGT GAT AAC TCT CTA CA-3' and exon 6 reverse 5'-CCA TCC ATC CAG AGA CAC AG-3', exon 7 forward 5'-TGG TAA GTG GGT CAA TGA GC-3' and exon 7 reverse 5'-CAG CTG TCC ACT TGT TCA TG-3', exon 8 forward 5'-AAG GAA GGG CAG TGA GGA TT-3'and exon 8 reverse 5'-GGT GGA AGT TTA GTG GAG TC-3', exon 9 forward 5'-CGC CTT ATT CCT CTA CTC CT-3'and exon 9 reverse 5'-GAC TGA GTG ACT TAG TGC GT-3', exon 10-1 forward 5'-TCA GTC AGG AGT TGG TCA GT-3'and exon 10-1 reverse 5'-GTC CAG AAC GTC CAG TAG CT-3', exon 10-2 forward 5'-CAG CTA CTG GAC GTT CTG GA-3'and exon 10-2 reverse 5'-CAG TAT CCT GAC TTA GAC GG-3', exon 11 forward 5'-GAG AAA TGC TCC TTT CCC AG-3'and exon 11 reverse 5'-TAG CCC TGG GAG CCA GGT TT-3', exon 12 forward 5'-CTC CCA GGG CAT CTT ATC TT-3'and exon 12 reverse 5'-AGC ACA GGG CAG CAA GTA AC-3'. He received transplantation from an HLA-A, B, C, DR, and DQ-matched unrelated male donor confirmed by a high-resolution molecular method, after the conditioning regimen composed of fludarabine (40 mg/m 2 on days -8, -7, -6, -5, -4, -3), busulfan (0.8 mg/kg i.v. q 6 hr on days -6, -5, -4, -3), and thymoglobulin (2.5 mg/kg on days -4, -3, -2). Written informed consent was obtained from parents of the patient before transplantation. Graft versus host disease (GVHD) prophylaxis was composed of cyclosporin, methotrexate (15 mg/kg on day 1, 10 mg/kg on days 3 and 6), and thymoglobulin (1.25 mg/kg on days 7, 9, 11). Other supportive care was performed according to the guideline for stem cell transplantation of our center ( 6 ). The number of infused nucleated cells and CD34-positive cells were 7.6×10 8 /kg and 6.2×10 6 /kg, respectively. He received G-CSF from 7 days after stem cell infusion and the nadir of white blood cells (0.09×10 9 /L) occurred 12 days after transplantation. The number of days required for absolute neutrophil count of more than 0.5×10 9 /L and 1.0× 10 9 /L were 14 days and 15 days, respectively, and spontaneous platelet recovery to more than 20×10 9 /L and 100× 10 9 /L required 16 days and 43 days, respectively. Grade I hematuria, grade II proteinuria, and grade II hepatic toxicity occurred during the transplantation but recovered spontaneously. No other serious complications occurred during transplantation. Grade II acute GVHD occurred 17 days after transplantation but resolved after the treatment with steroid. Bone marrow examination performed at one month post-transplantation revealed the donor type chimerism at 98.4% analyzed by short tandem repeat analysis and the normal polymerase chain reaction pattern in exons of the WAS gene ( Fig. 1 ). After 3 months of transplantation, complete donor type chimerism was achieved. Post-transplatation lymphoproliferative disease occurred 4 months after BMT but completely resolved with rituximab therapy. Chronic GVHD did not occur, and he is alive at 16 months after transplantation without any disease characteristics of WAS."}
|
{'CASE REPORT': "A 3-yr-old boy was admitted because of eczema, recurrent infection, and thrombocytopenia with a platelet count less than 10×10 9 /L and was diagnosed as having WAS with a large deletion in the exon 1 to 11 of the WAS gene ( Fig. 1 ). For the detection of mutation, the following primers were used; exon 1 forward 5'-GGT TTT TTG CAT TTC CTG TTC-3' and exon 1 reverse 5'-AGG AAG AGG AAG AAA CGG TG-3', exon 2 forward 5'-CCT GAC CAG ACT CCA CTG AC-3' and exon 2 reverse 5'-CTT GAA GCT ATG GAC ACA TAT G-3', exon 3 forward 5'CCT CAG TGC CAC TGT GCC TC3' and exon 3 reverse 5'-TTC CCA TCT CCT CTC CAC AC-3', exon 4 forward 5'-GTG TGG AGA GGA GAT GGG AA-3' and exon 4 reverse 5'-CAC TCA CCT CTG CCC AAC TT-3', exon 5 forward 5'-AAG TTG GGC AGA GGT GAG TG-3' and exon 5 reverse 5'-AGA GAG TTA TCA CAG CCC TG-3', exon 6 forward 5'-GGC TGT GAT AAC TCT CTA CA-3' and exon 6 reverse 5'-CCA TCC ATC CAG AGA CAC AG-3', exon 7 forward 5'-TGG TAA GTG GGT CAA TGA GC-3' and exon 7 reverse 5'-CAG CTG TCC ACT TGT TCA TG-3', exon 8 forward 5'-AAG GAA GGG CAG TGA GGA TT-3'and exon 8 reverse 5'-GGT GGA AGT TTA GTG GAG TC-3', exon 9 forward 5'-CGC CTT ATT CCT CTA CTC CT-3'and exon 9 reverse 5'-GAC TGA GTG ACT TAG TGC GT-3', exon 10-1 forward 5'-TCA GTC AGG AGT TGG TCA GT-3'and exon 10-1 reverse 5'-GTC CAG AAC GTC CAG TAG CT-3', exon 10-2 forward 5'-CAG CTA CTG GAC GTT CTG GA-3'and exon 10-2 reverse 5'-CAG TAT CCT GAC TTA GAC GG-3', exon 11 forward 5'-GAG AAA TGC TCC TTT CCC AG-3'and exon 11 reverse 5'-TAG CCC TGG GAG CCA GGT TT-3', exon 12 forward 5'-CTC CCA GGG CAT CTT ATC TT-3'and exon 12 reverse 5'-AGC ACA GGG CAG CAA GTA AC-3'. He received transplantation from an HLA-A, B, C, DR, and DQ-matched unrelated male donor confirmed by a high-resolution molecular method, after the conditioning regimen composed of fludarabine (40 mg/m 2 on days -8, -7, -6, -5, -4, -3), busulfan (0.8 mg/kg i.v. q 6 hr on days -6, -5, -4, -3), and thymoglobulin (2.5 mg/kg on days -4, -3, -2). Written informed consent was obtained from parents of the patient before transplantation. Graft versus host disease (GVHD) prophylaxis was composed of cyclosporin, methotrexate (15 mg/kg on day 1, 10 mg/kg on days 3 and 6), and thymoglobulin (1.25 mg/kg on days 7, 9, 11). Other supportive care was performed according to the guideline for stem cell transplantation of our center ( 6 ). The number of infused nucleated cells and CD34-positive cells were 7.6×10 8 /kg and 6.2×10 6 /kg, respectively. He received G-CSF from 7 days after stem cell infusion and the nadir of white blood cells (0.09×10 9 /L) occurred 12 days after transplantation. The number of days required for absolute neutrophil count of more than 0.5×10 9 /L and 1.0× 10 9 /L were 14 days and 15 days, respectively, and spontaneous platelet recovery to more than 20×10 9 /L and 100× 10 9 /L required 16 days and 43 days, respectively. Grade I hematuria, grade II proteinuria, and grade II hepatic toxicity occurred during the transplantation but recovered spontaneously. No other serious complications occurred during transplantation. Grade II acute GVHD occurred 17 days after transplantation but resolved after the treatment with steroid. Bone marrow examination performed at one month post-transplantation revealed the donor type chimerism at 98.4% analyzed by short tandem repeat analysis and the normal polymerase chain reaction pattern in exons of the WAS gene ( Fig. 1 ). After 3 months of transplantation, complete donor type chimerism was achieved. Post-transplatation lymphoproliferative disease occurred 4 months after BMT but completely resolved with rituximab therapy. Chronic GVHD did not occur, and he is alive at 16 months after transplantation without any disease characteristics of WAS."}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[] |
2526489
|
{'CASE REPORT': "A 3-yr-old boy was admitted because of eczema, recurrent infection, and thrombocytopenia with a platelet count less than 10×10 9 /L and was diagnosed as having WAS with a large deletion in the exon 1 to 11 of the WAS gene ( Fig. 1 ). For the detection of mutation, the following primers were used; exon 1 forward 5'-GGT TTT TTG CAT TTC CTG TTC-3' and exon 1 reverse 5'-AGG AAG AGG AAG AAA CGG TG-3', exon 2 forward 5'-CCT GAC CAG ACT CCA CTG AC-3' and exon 2 reverse 5'-CTT GAA GCT ATG GAC ACA TAT G-3', exon 3 forward 5'CCT CAG TGC CAC TGT GCC TC3' and exon 3 reverse 5'-TTC CCA TCT CCT CTC CAC AC-3', exon 4 forward 5'-GTG TGG AGA GGA GAT GGG AA-3' and exon 4 reverse 5'-CAC TCA CCT CTG CCC AAC TT-3', exon 5 forward 5'-AAG TTG GGC AGA GGT GAG TG-3' and exon 5 reverse 5'-AGA GAG TTA TCA CAG CCC TG-3', exon 6 forward 5'-GGC TGT GAT AAC TCT CTA CA-3' and exon 6 reverse 5'-CCA TCC ATC CAG AGA CAC AG-3', exon 7 forward 5'-TGG TAA GTG GGT CAA TGA GC-3' and exon 7 reverse 5'-CAG CTG TCC ACT TGT TCA TG-3', exon 8 forward 5'-AAG GAA GGG CAG TGA GGA TT-3'and exon 8 reverse 5'-GGT GGA AGT TTA GTG GAG TC-3', exon 9 forward 5'-CGC CTT ATT CCT CTA CTC CT-3'and exon 9 reverse 5'-GAC TGA GTG ACT TAG TGC GT-3', exon 10-1 forward 5'-TCA GTC AGG AGT TGG TCA GT-3'and exon 10-1 reverse 5'-GTC CAG AAC GTC CAG TAG CT-3', exon 10-2 forward 5'-CAG CTA CTG GAC GTT CTG GA-3'and exon 10-2 reverse 5'-CAG TAT CCT GAC TTA GAC GG-3', exon 11 forward 5'-GAG AAA TGC TCC TTT CCC AG-3'and exon 11 reverse 5'-TAG CCC TGG GAG CCA GGT TT-3', exon 12 forward 5'-CTC CCA GGG CAT CTT ATC TT-3'and exon 12 reverse 5'-AGC ACA GGG CAG CAA GTA AC-3'. He received transplantation from an HLA-A, B, C, DR, and DQ-matched unrelated male donor confirmed by a high-resolution molecular method, after the conditioning regimen composed of fludarabine (40 mg/m 2 on days -8, -7, -6, -5, -4, -3), busulfan (0.8 mg/kg i.v. q 6 hr on days -6, -5, -4, -3), and thymoglobulin (2.5 mg/kg on days -4, -3, -2). Written informed consent was obtained from parents of the patient before transplantation. Graft versus host disease (GVHD) prophylaxis was composed of cyclosporin, methotrexate (15 mg/kg on day 1, 10 mg/kg on days 3 and 6), and thymoglobulin (1.25 mg/kg on days 7, 9, 11). Other supportive care was performed according to the guideline for stem cell transplantation of our center ( 6 ). The number of infused nucleated cells and CD34-positive cells were 7.6×10 8 /kg and 6.2×10 6 /kg, respectively. He received G-CSF from 7 days after stem cell infusion and the nadir of white blood cells (0.09×10 9 /L) occurred 12 days after transplantation. The number of days required for absolute neutrophil count of more than 0.5×10 9 /L and 1.0× 10 9 /L were 14 days and 15 days, respectively, and spontaneous platelet recovery to more than 20×10 9 /L and 100× 10 9 /L required 16 days and 43 days, respectively. Grade I hematuria, grade II proteinuria, and grade II hepatic toxicity occurred during the transplantation but recovered spontaneously. No other serious complications occurred during transplantation. Grade II acute GVHD occurred 17 days after transplantation but resolved after the treatment with steroid. Bone marrow examination performed at one month post-transplantation revealed the donor type chimerism at 98.4% analyzed by short tandem repeat analysis and the normal polymerase chain reaction pattern in exons of the WAS gene ( Fig. 1 ). After 3 months of transplantation, complete donor type chimerism was achieved. Post-transplatation lymphoproliferative disease occurred 4 months after BMT but completely resolved with rituximab therapy. Chronic GVHD did not occur, and he is alive at 16 months after transplantation without any disease characteristics of WAS."}
|
{'CASE REPORT': "A 3-yr-old boy was admitted because of eczema, recurrent infection, and thrombocytopenia with a platelet count less than 10×10 9 /L and was diagnosed as having WAS with a large deletion in the exon 1 to 11 of the WAS gene ( Fig. 1 ). For the detection of mutation, the following primers were used; exon 1 forward 5'-GGT TTT TTG CAT TTC CTG TTC-3' and exon 1 reverse 5'-AGG AAG AGG AAG AAA CGG TG-3', exon 2 forward 5'-CCT GAC CAG ACT CCA CTG AC-3' and exon 2 reverse 5'-CTT GAA GCT ATG GAC ACA TAT G-3', exon 3 forward 5'CCT CAG TGC CAC TGT GCC TC3' and exon 3 reverse 5'-TTC CCA TCT CCT CTC CAC AC-3', exon 4 forward 5'-GTG TGG AGA GGA GAT GGG AA-3' and exon 4 reverse 5'-CAC TCA CCT CTG CCC AAC TT-3', exon 5 forward 5'-AAG TTG GGC AGA GGT GAG TG-3' and exon 5 reverse 5'-AGA GAG TTA TCA CAG CCC TG-3', exon 6 forward 5'-GGC TGT GAT AAC TCT CTA CA-3' and exon 6 reverse 5'-CCA TCC ATC CAG AGA CAC AG-3', exon 7 forward 5'-TGG TAA GTG GGT CAA TGA GC-3' and exon 7 reverse 5'-CAG CTG TCC ACT TGT TCA TG-3', exon 8 forward 5'-AAG GAA GGG CAG TGA GGA TT-3'and exon 8 reverse 5'-GGT GGA AGT TTA GTG GAG TC-3', exon 9 forward 5'-CGC CTT ATT CCT CTA CTC CT-3'and exon 9 reverse 5'-GAC TGA GTG ACT TAG TGC GT-3', exon 10-1 forward 5'-TCA GTC AGG AGT TGG TCA GT-3'and exon 10-1 reverse 5'-GTC CAG AAC GTC CAG TAG CT-3', exon 10-2 forward 5'-CAG CTA CTG GAC GTT CTG GA-3'and exon 10-2 reverse 5'-CAG TAT CCT GAC TTA GAC GG-3', exon 11 forward 5'-GAG AAA TGC TCC TTT CCC AG-3'and exon 11 reverse 5'-TAG CCC TGG GAG CCA GGT TT-3', exon 12 forward 5'-CTC CCA GGG CAT CTT ATC TT-3'and exon 12 reverse 5'-AGC ACA GGG CAG CAA GTA AC-3'. He received transplantation from an HLA-A, B, C, DR, and DQ-matched unrelated male donor confirmed by a high-resolution molecular method, after the conditioning regimen composed of fludarabine (40 mg/m 2 on days -8, -7, -6, -5, -4, -3), busulfan (0.8 mg/kg i.v. q 6 hr on days -6, -5, -4, -3), and thymoglobulin (2.5 mg/kg on days -4, -3, -2). Written informed consent was obtained from parents of the patient before transplantation. Graft versus host disease (GVHD) prophylaxis was composed of cyclosporin, methotrexate (15 mg/kg on day 1, 10 mg/kg on days 3 and 6), and thymoglobulin (1.25 mg/kg on days 7, 9, 11). Other supportive care was performed according to the guideline for stem cell transplantation of our center ( 6 ). The number of infused nucleated cells and CD34-positive cells were 7.6×10 8 /kg and 6.2×10 6 /kg, respectively. He received G-CSF from 7 days after stem cell infusion and the nadir of white blood cells (0.09×10 9 /L) occurred 12 days after transplantation. The number of days required for absolute neutrophil count of more than 0.5×10 9 /L and 1.0× 10 9 /L were 14 days and 15 days, respectively, and spontaneous platelet recovery to more than 20×10 9 /L and 100× 10 9 /L required 16 days and 43 days, respectively. Grade I hematuria, grade II proteinuria, and grade II hepatic toxicity occurred during the transplantation but recovered spontaneously. No other serious complications occurred during transplantation. Grade II acute GVHD occurred 17 days after transplantation but resolved after the treatment with steroid. Bone marrow examination performed at one month post-transplantation revealed the donor type chimerism at 98.4% analyzed by short tandem repeat analysis and the normal polymerase chain reaction pattern in exons of the WAS gene ( Fig. 1 ). After 3 months of transplantation, complete donor type chimerism was achieved. Post-transplatation lymphoproliferative disease occurred 4 months after BMT but completely resolved with rituximab therapy. Chronic GVHD did not occur, and he is alive at 16 months after transplantation without any disease characteristics of WAS."}
|
Dermatology
|
DERM
|
[
"eczema,"
] |
2526489
|
{'CASE REPORT': "A 3-yr-old boy was admitted because of eczema, recurrent infection, and thrombocytopenia with a platelet count less than 10×10 9 /L and was diagnosed as having WAS with a large deletion in the exon 1 to 11 of the WAS gene ( Fig. 1 ). For the detection of mutation, the following primers were used; exon 1 forward 5'-GGT TTT TTG CAT TTC CTG TTC-3' and exon 1 reverse 5'-AGG AAG AGG AAG AAA CGG TG-3', exon 2 forward 5'-CCT GAC CAG ACT CCA CTG AC-3' and exon 2 reverse 5'-CTT GAA GCT ATG GAC ACA TAT G-3', exon 3 forward 5'CCT CAG TGC CAC TGT GCC TC3' and exon 3 reverse 5'-TTC CCA TCT CCT CTC CAC AC-3', exon 4 forward 5'-GTG TGG AGA GGA GAT GGG AA-3' and exon 4 reverse 5'-CAC TCA CCT CTG CCC AAC TT-3', exon 5 forward 5'-AAG TTG GGC AGA GGT GAG TG-3' and exon 5 reverse 5'-AGA GAG TTA TCA CAG CCC TG-3', exon 6 forward 5'-GGC TGT GAT AAC TCT CTA CA-3' and exon 6 reverse 5'-CCA TCC ATC CAG AGA CAC AG-3', exon 7 forward 5'-TGG TAA GTG GGT CAA TGA GC-3' and exon 7 reverse 5'-CAG CTG TCC ACT TGT TCA TG-3', exon 8 forward 5'-AAG GAA GGG CAG TGA GGA TT-3'and exon 8 reverse 5'-GGT GGA AGT TTA GTG GAG TC-3', exon 9 forward 5'-CGC CTT ATT CCT CTA CTC CT-3'and exon 9 reverse 5'-GAC TGA GTG ACT TAG TGC GT-3', exon 10-1 forward 5'-TCA GTC AGG AGT TGG TCA GT-3'and exon 10-1 reverse 5'-GTC CAG AAC GTC CAG TAG CT-3', exon 10-2 forward 5'-CAG CTA CTG GAC GTT CTG GA-3'and exon 10-2 reverse 5'-CAG TAT CCT GAC TTA GAC GG-3', exon 11 forward 5'-GAG AAA TGC TCC TTT CCC AG-3'and exon 11 reverse 5'-TAG CCC TGG GAG CCA GGT TT-3', exon 12 forward 5'-CTC CCA GGG CAT CTT ATC TT-3'and exon 12 reverse 5'-AGC ACA GGG CAG CAA GTA AC-3'. He received transplantation from an HLA-A, B, C, DR, and DQ-matched unrelated male donor confirmed by a high-resolution molecular method, after the conditioning regimen composed of fludarabine (40 mg/m 2 on days -8, -7, -6, -5, -4, -3), busulfan (0.8 mg/kg i.v. q 6 hr on days -6, -5, -4, -3), and thymoglobulin (2.5 mg/kg on days -4, -3, -2). Written informed consent was obtained from parents of the patient before transplantation. Graft versus host disease (GVHD) prophylaxis was composed of cyclosporin, methotrexate (15 mg/kg on day 1, 10 mg/kg on days 3 and 6), and thymoglobulin (1.25 mg/kg on days 7, 9, 11). Other supportive care was performed according to the guideline for stem cell transplantation of our center ( 6 ). The number of infused nucleated cells and CD34-positive cells were 7.6×10 8 /kg and 6.2×10 6 /kg, respectively. He received G-CSF from 7 days after stem cell infusion and the nadir of white blood cells (0.09×10 9 /L) occurred 12 days after transplantation. The number of days required for absolute neutrophil count of more than 0.5×10 9 /L and 1.0× 10 9 /L were 14 days and 15 days, respectively, and spontaneous platelet recovery to more than 20×10 9 /L and 100× 10 9 /L required 16 days and 43 days, respectively. Grade I hematuria, grade II proteinuria, and grade II hepatic toxicity occurred during the transplantation but recovered spontaneously. No other serious complications occurred during transplantation. Grade II acute GVHD occurred 17 days after transplantation but resolved after the treatment with steroid. Bone marrow examination performed at one month post-transplantation revealed the donor type chimerism at 98.4% analyzed by short tandem repeat analysis and the normal polymerase chain reaction pattern in exons of the WAS gene ( Fig. 1 ). After 3 months of transplantation, complete donor type chimerism was achieved. Post-transplatation lymphoproliferative disease occurred 4 months after BMT but completely resolved with rituximab therapy. Chronic GVHD did not occur, and he is alive at 16 months after transplantation without any disease characteristics of WAS."}
|
{'CASE REPORT': "A 3-yr-old boy was admitted because of eczema, recurrent infection, and thrombocytopenia with a platelet count less than 10×10 9 /L and was diagnosed as having WAS with a large deletion in the exon 1 to 11 of the WAS gene ( Fig. 1 ). For the detection of mutation, the following primers were used; exon 1 forward 5'-GGT TTT TTG CAT TTC CTG TTC-3' and exon 1 reverse 5'-AGG AAG AGG AAG AAA CGG TG-3', exon 2 forward 5'-CCT GAC CAG ACT CCA CTG AC-3' and exon 2 reverse 5'-CTT GAA GCT ATG GAC ACA TAT G-3', exon 3 forward 5'CCT CAG TGC CAC TGT GCC TC3' and exon 3 reverse 5'-TTC CCA TCT CCT CTC CAC AC-3', exon 4 forward 5'-GTG TGG AGA GGA GAT GGG AA-3' and exon 4 reverse 5'-CAC TCA CCT CTG CCC AAC TT-3', exon 5 forward 5'-AAG TTG GGC AGA GGT GAG TG-3' and exon 5 reverse 5'-AGA GAG TTA TCA CAG CCC TG-3', exon 6 forward 5'-GGC TGT GAT AAC TCT CTA CA-3' and exon 6 reverse 5'-CCA TCC ATC CAG AGA CAC AG-3', exon 7 forward 5'-TGG TAA GTG GGT CAA TGA GC-3' and exon 7 reverse 5'-CAG CTG TCC ACT TGT TCA TG-3', exon 8 forward 5'-AAG GAA GGG CAG TGA GGA TT-3'and exon 8 reverse 5'-GGT GGA AGT TTA GTG GAG TC-3', exon 9 forward 5'-CGC CTT ATT CCT CTA CTC CT-3'and exon 9 reverse 5'-GAC TGA GTG ACT TAG TGC GT-3', exon 10-1 forward 5'-TCA GTC AGG AGT TGG TCA GT-3'and exon 10-1 reverse 5'-GTC CAG AAC GTC CAG TAG CT-3', exon 10-2 forward 5'-CAG CTA CTG GAC GTT CTG GA-3'and exon 10-2 reverse 5'-CAG TAT CCT GAC TTA GAC GG-3', exon 11 forward 5'-GAG AAA TGC TCC TTT CCC AG-3'and exon 11 reverse 5'-TAG CCC TGG GAG CCA GGT TT-3', exon 12 forward 5'-CTC CCA GGG CAT CTT ATC TT-3'and exon 12 reverse 5'-AGC ACA GGG CAG CAA GTA AC-3'. He received transplantation from an HLA-A, B, C, DR, and DQ-matched unrelated male donor confirmed by a high-resolution molecular method, after the conditioning regimen composed of fludarabine (40 mg/m 2 on days -8, -7, -6, -5, -4, -3), busulfan (0.8 mg/kg i.v. q 6 hr on days -6, -5, -4, -3), and thymoglobulin (2.5 mg/kg on days -4, -3, -2). Written informed consent was obtained from parents of the patient before transplantation. Graft versus host disease (GVHD) prophylaxis was composed of cyclosporin, methotrexate (15 mg/kg on day 1, 10 mg/kg on days 3 and 6), and thymoglobulin (1.25 mg/kg on days 7, 9, 11). Other supportive care was performed according to the guideline for stem cell transplantation of our center ( 6 ). The number of infused nucleated cells and CD34-positive cells were 7.6×10 8 /kg and 6.2×10 6 /kg, respectively. He received G-CSF from 7 days after stem cell infusion and the nadir of white blood cells (0.09×10 9 /L) occurred 12 days after transplantation. The number of days required for absolute neutrophil count of more than 0.5×10 9 /L and 1.0× 10 9 /L were 14 days and 15 days, respectively, and spontaneous platelet recovery to more than 20×10 9 /L and 100× 10 9 /L required 16 days and 43 days, respectively. Grade I hematuria, grade II proteinuria, and grade II hepatic toxicity occurred during the transplantation but recovered spontaneously. No other serious complications occurred during transplantation. Grade II acute GVHD occurred 17 days after transplantation but resolved after the treatment with steroid. Bone marrow examination performed at one month post-transplantation revealed the donor type chimerism at 98.4% analyzed by short tandem repeat analysis and the normal polymerase chain reaction pattern in exons of the WAS gene ( Fig. 1 ). After 3 months of transplantation, complete donor type chimerism was achieved. Post-transplatation lymphoproliferative disease occurred 4 months after BMT but completely resolved with rituximab therapy. Chronic GVHD did not occur, and he is alive at 16 months after transplantation without any disease characteristics of WAS."}
|
Pregnancy
|
Pregnancy
|
[] |
2526489
|
{'CASE REPORT': "A 3-yr-old boy was admitted because of eczema, recurrent infection, and thrombocytopenia with a platelet count less than 10×10 9 /L and was diagnosed as having WAS with a large deletion in the exon 1 to 11 of the WAS gene ( Fig. 1 ). For the detection of mutation, the following primers were used; exon 1 forward 5'-GGT TTT TTG CAT TTC CTG TTC-3' and exon 1 reverse 5'-AGG AAG AGG AAG AAA CGG TG-3', exon 2 forward 5'-CCT GAC CAG ACT CCA CTG AC-3' and exon 2 reverse 5'-CTT GAA GCT ATG GAC ACA TAT G-3', exon 3 forward 5'CCT CAG TGC CAC TGT GCC TC3' and exon 3 reverse 5'-TTC CCA TCT CCT CTC CAC AC-3', exon 4 forward 5'-GTG TGG AGA GGA GAT GGG AA-3' and exon 4 reverse 5'-CAC TCA CCT CTG CCC AAC TT-3', exon 5 forward 5'-AAG TTG GGC AGA GGT GAG TG-3' and exon 5 reverse 5'-AGA GAG TTA TCA CAG CCC TG-3', exon 6 forward 5'-GGC TGT GAT AAC TCT CTA CA-3' and exon 6 reverse 5'-CCA TCC ATC CAG AGA CAC AG-3', exon 7 forward 5'-TGG TAA GTG GGT CAA TGA GC-3' and exon 7 reverse 5'-CAG CTG TCC ACT TGT TCA TG-3', exon 8 forward 5'-AAG GAA GGG CAG TGA GGA TT-3'and exon 8 reverse 5'-GGT GGA AGT TTA GTG GAG TC-3', exon 9 forward 5'-CGC CTT ATT CCT CTA CTC CT-3'and exon 9 reverse 5'-GAC TGA GTG ACT TAG TGC GT-3', exon 10-1 forward 5'-TCA GTC AGG AGT TGG TCA GT-3'and exon 10-1 reverse 5'-GTC CAG AAC GTC CAG TAG CT-3', exon 10-2 forward 5'-CAG CTA CTG GAC GTT CTG GA-3'and exon 10-2 reverse 5'-CAG TAT CCT GAC TTA GAC GG-3', exon 11 forward 5'-GAG AAA TGC TCC TTT CCC AG-3'and exon 11 reverse 5'-TAG CCC TGG GAG CCA GGT TT-3', exon 12 forward 5'-CTC CCA GGG CAT CTT ATC TT-3'and exon 12 reverse 5'-AGC ACA GGG CAG CAA GTA AC-3'. He received transplantation from an HLA-A, B, C, DR, and DQ-matched unrelated male donor confirmed by a high-resolution molecular method, after the conditioning regimen composed of fludarabine (40 mg/m 2 on days -8, -7, -6, -5, -4, -3), busulfan (0.8 mg/kg i.v. q 6 hr on days -6, -5, -4, -3), and thymoglobulin (2.5 mg/kg on days -4, -3, -2). Written informed consent was obtained from parents of the patient before transplantation. Graft versus host disease (GVHD) prophylaxis was composed of cyclosporin, methotrexate (15 mg/kg on day 1, 10 mg/kg on days 3 and 6), and thymoglobulin (1.25 mg/kg on days 7, 9, 11). Other supportive care was performed according to the guideline for stem cell transplantation of our center ( 6 ). The number of infused nucleated cells and CD34-positive cells were 7.6×10 8 /kg and 6.2×10 6 /kg, respectively. He received G-CSF from 7 days after stem cell infusion and the nadir of white blood cells (0.09×10 9 /L) occurred 12 days after transplantation. The number of days required for absolute neutrophil count of more than 0.5×10 9 /L and 1.0× 10 9 /L were 14 days and 15 days, respectively, and spontaneous platelet recovery to more than 20×10 9 /L and 100× 10 9 /L required 16 days and 43 days, respectively. Grade I hematuria, grade II proteinuria, and grade II hepatic toxicity occurred during the transplantation but recovered spontaneously. No other serious complications occurred during transplantation. Grade II acute GVHD occurred 17 days after transplantation but resolved after the treatment with steroid. Bone marrow examination performed at one month post-transplantation revealed the donor type chimerism at 98.4% analyzed by short tandem repeat analysis and the normal polymerase chain reaction pattern in exons of the WAS gene ( Fig. 1 ). After 3 months of transplantation, complete donor type chimerism was achieved. Post-transplatation lymphoproliferative disease occurred 4 months after BMT but completely resolved with rituximab therapy. Chronic GVHD did not occur, and he is alive at 16 months after transplantation without any disease characteristics of WAS."}
|
{'CASE REPORT': "A 3-yr-old boy was admitted because of eczema, recurrent infection, and thrombocytopenia with a platelet count less than 10×10 9 /L and was diagnosed as having WAS with a large deletion in the exon 1 to 11 of the WAS gene ( Fig. 1 ). For the detection of mutation, the following primers were used; exon 1 forward 5'-GGT TTT TTG CAT TTC CTG TTC-3' and exon 1 reverse 5'-AGG AAG AGG AAG AAA CGG TG-3', exon 2 forward 5'-CCT GAC CAG ACT CCA CTG AC-3' and exon 2 reverse 5'-CTT GAA GCT ATG GAC ACA TAT G-3', exon 3 forward 5'CCT CAG TGC CAC TGT GCC TC3' and exon 3 reverse 5'-TTC CCA TCT CCT CTC CAC AC-3', exon 4 forward 5'-GTG TGG AGA GGA GAT GGG AA-3' and exon 4 reverse 5'-CAC TCA CCT CTG CCC AAC TT-3', exon 5 forward 5'-AAG TTG GGC AGA GGT GAG TG-3' and exon 5 reverse 5'-AGA GAG TTA TCA CAG CCC TG-3', exon 6 forward 5'-GGC TGT GAT AAC TCT CTA CA-3' and exon 6 reverse 5'-CCA TCC ATC CAG AGA CAC AG-3', exon 7 forward 5'-TGG TAA GTG GGT CAA TGA GC-3' and exon 7 reverse 5'-CAG CTG TCC ACT TGT TCA TG-3', exon 8 forward 5'-AAG GAA GGG CAG TGA GGA TT-3'and exon 8 reverse 5'-GGT GGA AGT TTA GTG GAG TC-3', exon 9 forward 5'-CGC CTT ATT CCT CTA CTC CT-3'and exon 9 reverse 5'-GAC TGA GTG ACT TAG TGC GT-3', exon 10-1 forward 5'-TCA GTC AGG AGT TGG TCA GT-3'and exon 10-1 reverse 5'-GTC CAG AAC GTC CAG TAG CT-3', exon 10-2 forward 5'-CAG CTA CTG GAC GTT CTG GA-3'and exon 10-2 reverse 5'-CAG TAT CCT GAC TTA GAC GG-3', exon 11 forward 5'-GAG AAA TGC TCC TTT CCC AG-3'and exon 11 reverse 5'-TAG CCC TGG GAG CCA GGT TT-3', exon 12 forward 5'-CTC CCA GGG CAT CTT ATC TT-3'and exon 12 reverse 5'-AGC ACA GGG CAG CAA GTA AC-3'. He received transplantation from an HLA-A, B, C, DR, and DQ-matched unrelated male donor confirmed by a high-resolution molecular method, after the conditioning regimen composed of fludarabine (40 mg/m 2 on days -8, -7, -6, -5, -4, -3), busulfan (0.8 mg/kg i.v. q 6 hr on days -6, -5, -4, -3), and thymoglobulin (2.5 mg/kg on days -4, -3, -2). Written informed consent was obtained from parents of the patient before transplantation. Graft versus host disease (GVHD) prophylaxis was composed of cyclosporin, methotrexate (15 mg/kg on day 1, 10 mg/kg on days 3 and 6), and thymoglobulin (1.25 mg/kg on days 7, 9, 11). Other supportive care was performed according to the guideline for stem cell transplantation of our center ( 6 ). The number of infused nucleated cells and CD34-positive cells were 7.6×10 8 /kg and 6.2×10 6 /kg, respectively. He received G-CSF from 7 days after stem cell infusion and the nadir of white blood cells (0.09×10 9 /L) occurred 12 days after transplantation. The number of days required for absolute neutrophil count of more than 0.5×10 9 /L and 1.0× 10 9 /L were 14 days and 15 days, respectively, and spontaneous platelet recovery to more than 20×10 9 /L and 100× 10 9 /L required 16 days and 43 days, respectively. Grade I hematuria, grade II proteinuria, and grade II hepatic toxicity occurred during the transplantation but recovered spontaneously. No other serious complications occurred during transplantation. Grade II acute GVHD occurred 17 days after transplantation but resolved after the treatment with steroid. Bone marrow examination performed at one month post-transplantation revealed the donor type chimerism at 98.4% analyzed by short tandem repeat analysis and the normal polymerase chain reaction pattern in exons of the WAS gene ( Fig. 1 ). After 3 months of transplantation, complete donor type chimerism was achieved. Post-transplatation lymphoproliferative disease occurred 4 months after BMT but completely resolved with rituximab therapy. Chronic GVHD did not occur, and he is alive at 16 months after transplantation without any disease characteristics of WAS."}
|
Lymphatic-System
|
LYMPH
|
[] |
2526489
|
{'CASE REPORT': "A 3-yr-old boy was admitted because of eczema, recurrent infection, and thrombocytopenia with a platelet count less than 10×10 9 /L and was diagnosed as having WAS with a large deletion in the exon 1 to 11 of the WAS gene ( Fig. 1 ). For the detection of mutation, the following primers were used; exon 1 forward 5'-GGT TTT TTG CAT TTC CTG TTC-3' and exon 1 reverse 5'-AGG AAG AGG AAG AAA CGG TG-3', exon 2 forward 5'-CCT GAC CAG ACT CCA CTG AC-3' and exon 2 reverse 5'-CTT GAA GCT ATG GAC ACA TAT G-3', exon 3 forward 5'CCT CAG TGC CAC TGT GCC TC3' and exon 3 reverse 5'-TTC CCA TCT CCT CTC CAC AC-3', exon 4 forward 5'-GTG TGG AGA GGA GAT GGG AA-3' and exon 4 reverse 5'-CAC TCA CCT CTG CCC AAC TT-3', exon 5 forward 5'-AAG TTG GGC AGA GGT GAG TG-3' and exon 5 reverse 5'-AGA GAG TTA TCA CAG CCC TG-3', exon 6 forward 5'-GGC TGT GAT AAC TCT CTA CA-3' and exon 6 reverse 5'-CCA TCC ATC CAG AGA CAC AG-3', exon 7 forward 5'-TGG TAA GTG GGT CAA TGA GC-3' and exon 7 reverse 5'-CAG CTG TCC ACT TGT TCA TG-3', exon 8 forward 5'-AAG GAA GGG CAG TGA GGA TT-3'and exon 8 reverse 5'-GGT GGA AGT TTA GTG GAG TC-3', exon 9 forward 5'-CGC CTT ATT CCT CTA CTC CT-3'and exon 9 reverse 5'-GAC TGA GTG ACT TAG TGC GT-3', exon 10-1 forward 5'-TCA GTC AGG AGT TGG TCA GT-3'and exon 10-1 reverse 5'-GTC CAG AAC GTC CAG TAG CT-3', exon 10-2 forward 5'-CAG CTA CTG GAC GTT CTG GA-3'and exon 10-2 reverse 5'-CAG TAT CCT GAC TTA GAC GG-3', exon 11 forward 5'-GAG AAA TGC TCC TTT CCC AG-3'and exon 11 reverse 5'-TAG CCC TGG GAG CCA GGT TT-3', exon 12 forward 5'-CTC CCA GGG CAT CTT ATC TT-3'and exon 12 reverse 5'-AGC ACA GGG CAG CAA GTA AC-3'. He received transplantation from an HLA-A, B, C, DR, and DQ-matched unrelated male donor confirmed by a high-resolution molecular method, after the conditioning regimen composed of fludarabine (40 mg/m 2 on days -8, -7, -6, -5, -4, -3), busulfan (0.8 mg/kg i.v. q 6 hr on days -6, -5, -4, -3), and thymoglobulin (2.5 mg/kg on days -4, -3, -2). Written informed consent was obtained from parents of the patient before transplantation. Graft versus host disease (GVHD) prophylaxis was composed of cyclosporin, methotrexate (15 mg/kg on day 1, 10 mg/kg on days 3 and 6), and thymoglobulin (1.25 mg/kg on days 7, 9, 11). Other supportive care was performed according to the guideline for stem cell transplantation of our center ( 6 ). The number of infused nucleated cells and CD34-positive cells were 7.6×10 8 /kg and 6.2×10 6 /kg, respectively. He received G-CSF from 7 days after stem cell infusion and the nadir of white blood cells (0.09×10 9 /L) occurred 12 days after transplantation. The number of days required for absolute neutrophil count of more than 0.5×10 9 /L and 1.0× 10 9 /L were 14 days and 15 days, respectively, and spontaneous platelet recovery to more than 20×10 9 /L and 100× 10 9 /L required 16 days and 43 days, respectively. Grade I hematuria, grade II proteinuria, and grade II hepatic toxicity occurred during the transplantation but recovered spontaneously. No other serious complications occurred during transplantation. Grade II acute GVHD occurred 17 days after transplantation but resolved after the treatment with steroid. Bone marrow examination performed at one month post-transplantation revealed the donor type chimerism at 98.4% analyzed by short tandem repeat analysis and the normal polymerase chain reaction pattern in exons of the WAS gene ( Fig. 1 ). After 3 months of transplantation, complete donor type chimerism was achieved. Post-transplatation lymphoproliferative disease occurred 4 months after BMT but completely resolved with rituximab therapy. Chronic GVHD did not occur, and he is alive at 16 months after transplantation without any disease characteristics of WAS."}
|
{'CASE REPORT': "A 3-yr-old boy was admitted because of eczema, recurrent infection, and thrombocytopenia with a platelet count less than 10×10 9 /L and was diagnosed as having WAS with a large deletion in the exon 1 to 11 of the WAS gene ( Fig. 1 ). For the detection of mutation, the following primers were used; exon 1 forward 5'-GGT TTT TTG CAT TTC CTG TTC-3' and exon 1 reverse 5'-AGG AAG AGG AAG AAA CGG TG-3', exon 2 forward 5'-CCT GAC CAG ACT CCA CTG AC-3' and exon 2 reverse 5'-CTT GAA GCT ATG GAC ACA TAT G-3', exon 3 forward 5'CCT CAG TGC CAC TGT GCC TC3' and exon 3 reverse 5'-TTC CCA TCT CCT CTC CAC AC-3', exon 4 forward 5'-GTG TGG AGA GGA GAT GGG AA-3' and exon 4 reverse 5'-CAC TCA CCT CTG CCC AAC TT-3', exon 5 forward 5'-AAG TTG GGC AGA GGT GAG TG-3' and exon 5 reverse 5'-AGA GAG TTA TCA CAG CCC TG-3', exon 6 forward 5'-GGC TGT GAT AAC TCT CTA CA-3' and exon 6 reverse 5'-CCA TCC ATC CAG AGA CAC AG-3', exon 7 forward 5'-TGG TAA GTG GGT CAA TGA GC-3' and exon 7 reverse 5'-CAG CTG TCC ACT TGT TCA TG-3', exon 8 forward 5'-AAG GAA GGG CAG TGA GGA TT-3'and exon 8 reverse 5'-GGT GGA AGT TTA GTG GAG TC-3', exon 9 forward 5'-CGC CTT ATT CCT CTA CTC CT-3'and exon 9 reverse 5'-GAC TGA GTG ACT TAG TGC GT-3', exon 10-1 forward 5'-TCA GTC AGG AGT TGG TCA GT-3'and exon 10-1 reverse 5'-GTC CAG AAC GTC CAG TAG CT-3', exon 10-2 forward 5'-CAG CTA CTG GAC GTT CTG GA-3'and exon 10-2 reverse 5'-CAG TAT CCT GAC TTA GAC GG-3', exon 11 forward 5'-GAG AAA TGC TCC TTT CCC AG-3'and exon 11 reverse 5'-TAG CCC TGG GAG CCA GGT TT-3', exon 12 forward 5'-CTC CCA GGG CAT CTT ATC TT-3'and exon 12 reverse 5'-AGC ACA GGG CAG CAA GTA AC-3'. He received transplantation from an HLA-A, B, C, DR, and DQ-matched unrelated male donor confirmed by a high-resolution molecular method, after the conditioning regimen composed of fludarabine (40 mg/m 2 on days -8, -7, -6, -5, -4, -3), busulfan (0.8 mg/kg i.v. q 6 hr on days -6, -5, -4, -3), and thymoglobulin (2.5 mg/kg on days -4, -3, -2). Written informed consent was obtained from parents of the patient before transplantation. Graft versus host disease (GVHD) prophylaxis was composed of cyclosporin, methotrexate (15 mg/kg on day 1, 10 mg/kg on days 3 and 6), and thymoglobulin (1.25 mg/kg on days 7, 9, 11). Other supportive care was performed according to the guideline for stem cell transplantation of our center ( 6 ). The number of infused nucleated cells and CD34-positive cells were 7.6×10 8 /kg and 6.2×10 6 /kg, respectively. He received G-CSF from 7 days after stem cell infusion and the nadir of white blood cells (0.09×10 9 /L) occurred 12 days after transplantation. The number of days required for absolute neutrophil count of more than 0.5×10 9 /L and 1.0× 10 9 /L were 14 days and 15 days, respectively, and spontaneous platelet recovery to more than 20×10 9 /L and 100× 10 9 /L required 16 days and 43 days, respectively. Grade I hematuria, grade II proteinuria, and grade II hepatic toxicity occurred during the transplantation but recovered spontaneously. No other serious complications occurred during transplantation. Grade II acute GVHD occurred 17 days after transplantation but resolved after the treatment with steroid. Bone marrow examination performed at one month post-transplantation revealed the donor type chimerism at 98.4% analyzed by short tandem repeat analysis and the normal polymerase chain reaction pattern in exons of the WAS gene ( Fig. 1 ). After 3 months of transplantation, complete donor type chimerism was achieved. Post-transplatation lymphoproliferative disease occurred 4 months after BMT but completely resolved with rituximab therapy. Chronic GVHD did not occur, and he is alive at 16 months after transplantation without any disease characteristics of WAS."}
|
Age-at-Presentation
|
Age (at case presentation)
|
[
"3 - yr - old"
] |
2526489
|
{'CASE REPORT': "A 3-yr-old boy was admitted because of eczema, recurrent infection, and thrombocytopenia with a platelet count less than 10×10 9 /L and was diagnosed as having WAS with a large deletion in the exon 1 to 11 of the WAS gene ( Fig. 1 ). For the detection of mutation, the following primers were used; exon 1 forward 5'-GGT TTT TTG CAT TTC CTG TTC-3' and exon 1 reverse 5'-AGG AAG AGG AAG AAA CGG TG-3', exon 2 forward 5'-CCT GAC CAG ACT CCA CTG AC-3' and exon 2 reverse 5'-CTT GAA GCT ATG GAC ACA TAT G-3', exon 3 forward 5'CCT CAG TGC CAC TGT GCC TC3' and exon 3 reverse 5'-TTC CCA TCT CCT CTC CAC AC-3', exon 4 forward 5'-GTG TGG AGA GGA GAT GGG AA-3' and exon 4 reverse 5'-CAC TCA CCT CTG CCC AAC TT-3', exon 5 forward 5'-AAG TTG GGC AGA GGT GAG TG-3' and exon 5 reverse 5'-AGA GAG TTA TCA CAG CCC TG-3', exon 6 forward 5'-GGC TGT GAT AAC TCT CTA CA-3' and exon 6 reverse 5'-CCA TCC ATC CAG AGA CAC AG-3', exon 7 forward 5'-TGG TAA GTG GGT CAA TGA GC-3' and exon 7 reverse 5'-CAG CTG TCC ACT TGT TCA TG-3', exon 8 forward 5'-AAG GAA GGG CAG TGA GGA TT-3'and exon 8 reverse 5'-GGT GGA AGT TTA GTG GAG TC-3', exon 9 forward 5'-CGC CTT ATT CCT CTA CTC CT-3'and exon 9 reverse 5'-GAC TGA GTG ACT TAG TGC GT-3', exon 10-1 forward 5'-TCA GTC AGG AGT TGG TCA GT-3'and exon 10-1 reverse 5'-GTC CAG AAC GTC CAG TAG CT-3', exon 10-2 forward 5'-CAG CTA CTG GAC GTT CTG GA-3'and exon 10-2 reverse 5'-CAG TAT CCT GAC TTA GAC GG-3', exon 11 forward 5'-GAG AAA TGC TCC TTT CCC AG-3'and exon 11 reverse 5'-TAG CCC TGG GAG CCA GGT TT-3', exon 12 forward 5'-CTC CCA GGG CAT CTT ATC TT-3'and exon 12 reverse 5'-AGC ACA GGG CAG CAA GTA AC-3'. He received transplantation from an HLA-A, B, C, DR, and DQ-matched unrelated male donor confirmed by a high-resolution molecular method, after the conditioning regimen composed of fludarabine (40 mg/m 2 on days -8, -7, -6, -5, -4, -3), busulfan (0.8 mg/kg i.v. q 6 hr on days -6, -5, -4, -3), and thymoglobulin (2.5 mg/kg on days -4, -3, -2). Written informed consent was obtained from parents of the patient before transplantation. Graft versus host disease (GVHD) prophylaxis was composed of cyclosporin, methotrexate (15 mg/kg on day 1, 10 mg/kg on days 3 and 6), and thymoglobulin (1.25 mg/kg on days 7, 9, 11). Other supportive care was performed according to the guideline for stem cell transplantation of our center ( 6 ). The number of infused nucleated cells and CD34-positive cells were 7.6×10 8 /kg and 6.2×10 6 /kg, respectively. He received G-CSF from 7 days after stem cell infusion and the nadir of white blood cells (0.09×10 9 /L) occurred 12 days after transplantation. The number of days required for absolute neutrophil count of more than 0.5×10 9 /L and 1.0× 10 9 /L were 14 days and 15 days, respectively, and spontaneous platelet recovery to more than 20×10 9 /L and 100× 10 9 /L required 16 days and 43 days, respectively. Grade I hematuria, grade II proteinuria, and grade II hepatic toxicity occurred during the transplantation but recovered spontaneously. No other serious complications occurred during transplantation. Grade II acute GVHD occurred 17 days after transplantation but resolved after the treatment with steroid. Bone marrow examination performed at one month post-transplantation revealed the donor type chimerism at 98.4% analyzed by short tandem repeat analysis and the normal polymerase chain reaction pattern in exons of the WAS gene ( Fig. 1 ). After 3 months of transplantation, complete donor type chimerism was achieved. Post-transplatation lymphoproliferative disease occurred 4 months after BMT but completely resolved with rituximab therapy. Chronic GVHD did not occur, and he is alive at 16 months after transplantation without any disease characteristics of WAS."}
|
{'CASE REPORT': "A 3-yr-old boy was admitted because of eczema, recurrent infection, and thrombocytopenia with a platelet count less than 10×10 9 /L and was diagnosed as having WAS with a large deletion in the exon 1 to 11 of the WAS gene ( Fig. 1 ). For the detection of mutation, the following primers were used; exon 1 forward 5'-GGT TTT TTG CAT TTC CTG TTC-3' and exon 1 reverse 5'-AGG AAG AGG AAG AAA CGG TG-3', exon 2 forward 5'-CCT GAC CAG ACT CCA CTG AC-3' and exon 2 reverse 5'-CTT GAA GCT ATG GAC ACA TAT G-3', exon 3 forward 5'CCT CAG TGC CAC TGT GCC TC3' and exon 3 reverse 5'-TTC CCA TCT CCT CTC CAC AC-3', exon 4 forward 5'-GTG TGG AGA GGA GAT GGG AA-3' and exon 4 reverse 5'-CAC TCA CCT CTG CCC AAC TT-3', exon 5 forward 5'-AAG TTG GGC AGA GGT GAG TG-3' and exon 5 reverse 5'-AGA GAG TTA TCA CAG CCC TG-3', exon 6 forward 5'-GGC TGT GAT AAC TCT CTA CA-3' and exon 6 reverse 5'-CCA TCC ATC CAG AGA CAC AG-3', exon 7 forward 5'-TGG TAA GTG GGT CAA TGA GC-3' and exon 7 reverse 5'-CAG CTG TCC ACT TGT TCA TG-3', exon 8 forward 5'-AAG GAA GGG CAG TGA GGA TT-3'and exon 8 reverse 5'-GGT GGA AGT TTA GTG GAG TC-3', exon 9 forward 5'-CGC CTT ATT CCT CTA CTC CT-3'and exon 9 reverse 5'-GAC TGA GTG ACT TAG TGC GT-3', exon 10-1 forward 5'-TCA GTC AGG AGT TGG TCA GT-3'and exon 10-1 reverse 5'-GTC CAG AAC GTC CAG TAG CT-3', exon 10-2 forward 5'-CAG CTA CTG GAC GTT CTG GA-3'and exon 10-2 reverse 5'-CAG TAT CCT GAC TTA GAC GG-3', exon 11 forward 5'-GAG AAA TGC TCC TTT CCC AG-3'and exon 11 reverse 5'-TAG CCC TGG GAG CCA GGT TT-3', exon 12 forward 5'-CTC CCA GGG CAT CTT ATC TT-3'and exon 12 reverse 5'-AGC ACA GGG CAG CAA GTA AC-3'. He received transplantation from an HLA-A, B, C, DR, and DQ-matched unrelated male donor confirmed by a high-resolution molecular method, after the conditioning regimen composed of fludarabine (40 mg/m 2 on days -8, -7, -6, -5, -4, -3), busulfan (0.8 mg/kg i.v. q 6 hr on days -6, -5, -4, -3), and thymoglobulin (2.5 mg/kg on days -4, -3, -2). Written informed consent was obtained from parents of the patient before transplantation. Graft versus host disease (GVHD) prophylaxis was composed of cyclosporin, methotrexate (15 mg/kg on day 1, 10 mg/kg on days 3 and 6), and thymoglobulin (1.25 mg/kg on days 7, 9, 11). Other supportive care was performed according to the guideline for stem cell transplantation of our center ( 6 ). The number of infused nucleated cells and CD34-positive cells were 7.6×10 8 /kg and 6.2×10 6 /kg, respectively. He received G-CSF from 7 days after stem cell infusion and the nadir of white blood cells (0.09×10 9 /L) occurred 12 days after transplantation. The number of days required for absolute neutrophil count of more than 0.5×10 9 /L and 1.0× 10 9 /L were 14 days and 15 days, respectively, and spontaneous platelet recovery to more than 20×10 9 /L and 100× 10 9 /L required 16 days and 43 days, respectively. Grade I hematuria, grade II proteinuria, and grade II hepatic toxicity occurred during the transplantation but recovered spontaneously. No other serious complications occurred during transplantation. Grade II acute GVHD occurred 17 days after transplantation but resolved after the treatment with steroid. Bone marrow examination performed at one month post-transplantation revealed the donor type chimerism at 98.4% analyzed by short tandem repeat analysis and the normal polymerase chain reaction pattern in exons of the WAS gene ( Fig. 1 ). After 3 months of transplantation, complete donor type chimerism was achieved. Post-transplatation lymphoproliferative disease occurred 4 months after BMT but completely resolved with rituximab therapy. Chronic GVHD did not occur, and he is alive at 16 months after transplantation without any disease characteristics of WAS."}
|
Age-of-Onset
|
Age (of onset)
|
[] |
2526489
|
{'CASE REPORT': "A 3-yr-old boy was admitted because of eczema, recurrent infection, and thrombocytopenia with a platelet count less than 10×10 9 /L and was diagnosed as having WAS with a large deletion in the exon 1 to 11 of the WAS gene ( Fig. 1 ). For the detection of mutation, the following primers were used; exon 1 forward 5'-GGT TTT TTG CAT TTC CTG TTC-3' and exon 1 reverse 5'-AGG AAG AGG AAG AAA CGG TG-3', exon 2 forward 5'-CCT GAC CAG ACT CCA CTG AC-3' and exon 2 reverse 5'-CTT GAA GCT ATG GAC ACA TAT G-3', exon 3 forward 5'CCT CAG TGC CAC TGT GCC TC3' and exon 3 reverse 5'-TTC CCA TCT CCT CTC CAC AC-3', exon 4 forward 5'-GTG TGG AGA GGA GAT GGG AA-3' and exon 4 reverse 5'-CAC TCA CCT CTG CCC AAC TT-3', exon 5 forward 5'-AAG TTG GGC AGA GGT GAG TG-3' and exon 5 reverse 5'-AGA GAG TTA TCA CAG CCC TG-3', exon 6 forward 5'-GGC TGT GAT AAC TCT CTA CA-3' and exon 6 reverse 5'-CCA TCC ATC CAG AGA CAC AG-3', exon 7 forward 5'-TGG TAA GTG GGT CAA TGA GC-3' and exon 7 reverse 5'-CAG CTG TCC ACT TGT TCA TG-3', exon 8 forward 5'-AAG GAA GGG CAG TGA GGA TT-3'and exon 8 reverse 5'-GGT GGA AGT TTA GTG GAG TC-3', exon 9 forward 5'-CGC CTT ATT CCT CTA CTC CT-3'and exon 9 reverse 5'-GAC TGA GTG ACT TAG TGC GT-3', exon 10-1 forward 5'-TCA GTC AGG AGT TGG TCA GT-3'and exon 10-1 reverse 5'-GTC CAG AAC GTC CAG TAG CT-3', exon 10-2 forward 5'-CAG CTA CTG GAC GTT CTG GA-3'and exon 10-2 reverse 5'-CAG TAT CCT GAC TTA GAC GG-3', exon 11 forward 5'-GAG AAA TGC TCC TTT CCC AG-3'and exon 11 reverse 5'-TAG CCC TGG GAG CCA GGT TT-3', exon 12 forward 5'-CTC CCA GGG CAT CTT ATC TT-3'and exon 12 reverse 5'-AGC ACA GGG CAG CAA GTA AC-3'. He received transplantation from an HLA-A, B, C, DR, and DQ-matched unrelated male donor confirmed by a high-resolution molecular method, after the conditioning regimen composed of fludarabine (40 mg/m 2 on days -8, -7, -6, -5, -4, -3), busulfan (0.8 mg/kg i.v. q 6 hr on days -6, -5, -4, -3), and thymoglobulin (2.5 mg/kg on days -4, -3, -2). Written informed consent was obtained from parents of the patient before transplantation. Graft versus host disease (GVHD) prophylaxis was composed of cyclosporin, methotrexate (15 mg/kg on day 1, 10 mg/kg on days 3 and 6), and thymoglobulin (1.25 mg/kg on days 7, 9, 11). Other supportive care was performed according to the guideline for stem cell transplantation of our center ( 6 ). The number of infused nucleated cells and CD34-positive cells were 7.6×10 8 /kg and 6.2×10 6 /kg, respectively. He received G-CSF from 7 days after stem cell infusion and the nadir of white blood cells (0.09×10 9 /L) occurred 12 days after transplantation. The number of days required for absolute neutrophil count of more than 0.5×10 9 /L and 1.0× 10 9 /L were 14 days and 15 days, respectively, and spontaneous platelet recovery to more than 20×10 9 /L and 100× 10 9 /L required 16 days and 43 days, respectively. Grade I hematuria, grade II proteinuria, and grade II hepatic toxicity occurred during the transplantation but recovered spontaneously. No other serious complications occurred during transplantation. Grade II acute GVHD occurred 17 days after transplantation but resolved after the treatment with steroid. Bone marrow examination performed at one month post-transplantation revealed the donor type chimerism at 98.4% analyzed by short tandem repeat analysis and the normal polymerase chain reaction pattern in exons of the WAS gene ( Fig. 1 ). After 3 months of transplantation, complete donor type chimerism was achieved. Post-transplatation lymphoproliferative disease occurred 4 months after BMT but completely resolved with rituximab therapy. Chronic GVHD did not occur, and he is alive at 16 months after transplantation without any disease characteristics of WAS."}
|
{'CASE REPORT': "A 3-yr-old boy was admitted because of eczema, recurrent infection, and thrombocytopenia with a platelet count less than 10×10 9 /L and was diagnosed as having WAS with a large deletion in the exon 1 to 11 of the WAS gene ( Fig. 1 ). For the detection of mutation, the following primers were used; exon 1 forward 5'-GGT TTT TTG CAT TTC CTG TTC-3' and exon 1 reverse 5'-AGG AAG AGG AAG AAA CGG TG-3', exon 2 forward 5'-CCT GAC CAG ACT CCA CTG AC-3' and exon 2 reverse 5'-CTT GAA GCT ATG GAC ACA TAT G-3', exon 3 forward 5'CCT CAG TGC CAC TGT GCC TC3' and exon 3 reverse 5'-TTC CCA TCT CCT CTC CAC AC-3', exon 4 forward 5'-GTG TGG AGA GGA GAT GGG AA-3' and exon 4 reverse 5'-CAC TCA CCT CTG CCC AAC TT-3', exon 5 forward 5'-AAG TTG GGC AGA GGT GAG TG-3' and exon 5 reverse 5'-AGA GAG TTA TCA CAG CCC TG-3', exon 6 forward 5'-GGC TGT GAT AAC TCT CTA CA-3' and exon 6 reverse 5'-CCA TCC ATC CAG AGA CAC AG-3', exon 7 forward 5'-TGG TAA GTG GGT CAA TGA GC-3' and exon 7 reverse 5'-CAG CTG TCC ACT TGT TCA TG-3', exon 8 forward 5'-AAG GAA GGG CAG TGA GGA TT-3'and exon 8 reverse 5'-GGT GGA AGT TTA GTG GAG TC-3', exon 9 forward 5'-CGC CTT ATT CCT CTA CTC CT-3'and exon 9 reverse 5'-GAC TGA GTG ACT TAG TGC GT-3', exon 10-1 forward 5'-TCA GTC AGG AGT TGG TCA GT-3'and exon 10-1 reverse 5'-GTC CAG AAC GTC CAG TAG CT-3', exon 10-2 forward 5'-CAG CTA CTG GAC GTT CTG GA-3'and exon 10-2 reverse 5'-CAG TAT CCT GAC TTA GAC GG-3', exon 11 forward 5'-GAG AAA TGC TCC TTT CCC AG-3'and exon 11 reverse 5'-TAG CCC TGG GAG CCA GGT TT-3', exon 12 forward 5'-CTC CCA GGG CAT CTT ATC TT-3'and exon 12 reverse 5'-AGC ACA GGG CAG CAA GTA AC-3'. He received transplantation from an HLA-A, B, C, DR, and DQ-matched unrelated male donor confirmed by a high-resolution molecular method, after the conditioning regimen composed of fludarabine (40 mg/m 2 on days -8, -7, -6, -5, -4, -3), busulfan (0.8 mg/kg i.v. q 6 hr on days -6, -5, -4, -3), and thymoglobulin (2.5 mg/kg on days -4, -3, -2). Written informed consent was obtained from parents of the patient before transplantation. Graft versus host disease (GVHD) prophylaxis was composed of cyclosporin, methotrexate (15 mg/kg on day 1, 10 mg/kg on days 3 and 6), and thymoglobulin (1.25 mg/kg on days 7, 9, 11). Other supportive care was performed according to the guideline for stem cell transplantation of our center ( 6 ). The number of infused nucleated cells and CD34-positive cells were 7.6×10 8 /kg and 6.2×10 6 /kg, respectively. He received G-CSF from 7 days after stem cell infusion and the nadir of white blood cells (0.09×10 9 /L) occurred 12 days after transplantation. The number of days required for absolute neutrophil count of more than 0.5×10 9 /L and 1.0× 10 9 /L were 14 days and 15 days, respectively, and spontaneous platelet recovery to more than 20×10 9 /L and 100× 10 9 /L required 16 days and 43 days, respectively. Grade I hematuria, grade II proteinuria, and grade II hepatic toxicity occurred during the transplantation but recovered spontaneously. No other serious complications occurred during transplantation. Grade II acute GVHD occurred 17 days after transplantation but resolved after the treatment with steroid. Bone marrow examination performed at one month post-transplantation revealed the donor type chimerism at 98.4% analyzed by short tandem repeat analysis and the normal polymerase chain reaction pattern in exons of the WAS gene ( Fig. 1 ). After 3 months of transplantation, complete donor type chimerism was achieved. Post-transplatation lymphoproliferative disease occurred 4 months after BMT but completely resolved with rituximab therapy. Chronic GVHD did not occur, and he is alive at 16 months after transplantation without any disease characteristics of WAS."}
|
Confirmed-Diagnosis-IEM
|
Confirmed_Diagnosis(IEM)
|
[
"WAS with a large deletion in the exon 1 to 11 of the WAS gene"
] |
2526489
|
{'CASE REPORT': "A 3-yr-old boy was admitted because of eczema, recurrent infection, and thrombocytopenia with a platelet count less than 10×10 9 /L and was diagnosed as having WAS with a large deletion in the exon 1 to 11 of the WAS gene ( Fig. 1 ). For the detection of mutation, the following primers were used; exon 1 forward 5'-GGT TTT TTG CAT TTC CTG TTC-3' and exon 1 reverse 5'-AGG AAG AGG AAG AAA CGG TG-3', exon 2 forward 5'-CCT GAC CAG ACT CCA CTG AC-3' and exon 2 reverse 5'-CTT GAA GCT ATG GAC ACA TAT G-3', exon 3 forward 5'CCT CAG TGC CAC TGT GCC TC3' and exon 3 reverse 5'-TTC CCA TCT CCT CTC CAC AC-3', exon 4 forward 5'-GTG TGG AGA GGA GAT GGG AA-3' and exon 4 reverse 5'-CAC TCA CCT CTG CCC AAC TT-3', exon 5 forward 5'-AAG TTG GGC AGA GGT GAG TG-3' and exon 5 reverse 5'-AGA GAG TTA TCA CAG CCC TG-3', exon 6 forward 5'-GGC TGT GAT AAC TCT CTA CA-3' and exon 6 reverse 5'-CCA TCC ATC CAG AGA CAC AG-3', exon 7 forward 5'-TGG TAA GTG GGT CAA TGA GC-3' and exon 7 reverse 5'-CAG CTG TCC ACT TGT TCA TG-3', exon 8 forward 5'-AAG GAA GGG CAG TGA GGA TT-3'and exon 8 reverse 5'-GGT GGA AGT TTA GTG GAG TC-3', exon 9 forward 5'-CGC CTT ATT CCT CTA CTC CT-3'and exon 9 reverse 5'-GAC TGA GTG ACT TAG TGC GT-3', exon 10-1 forward 5'-TCA GTC AGG AGT TGG TCA GT-3'and exon 10-1 reverse 5'-GTC CAG AAC GTC CAG TAG CT-3', exon 10-2 forward 5'-CAG CTA CTG GAC GTT CTG GA-3'and exon 10-2 reverse 5'-CAG TAT CCT GAC TTA GAC GG-3', exon 11 forward 5'-GAG AAA TGC TCC TTT CCC AG-3'and exon 11 reverse 5'-TAG CCC TGG GAG CCA GGT TT-3', exon 12 forward 5'-CTC CCA GGG CAT CTT ATC TT-3'and exon 12 reverse 5'-AGC ACA GGG CAG CAA GTA AC-3'. He received transplantation from an HLA-A, B, C, DR, and DQ-matched unrelated male donor confirmed by a high-resolution molecular method, after the conditioning regimen composed of fludarabine (40 mg/m 2 on days -8, -7, -6, -5, -4, -3), busulfan (0.8 mg/kg i.v. q 6 hr on days -6, -5, -4, -3), and thymoglobulin (2.5 mg/kg on days -4, -3, -2). Written informed consent was obtained from parents of the patient before transplantation. Graft versus host disease (GVHD) prophylaxis was composed of cyclosporin, methotrexate (15 mg/kg on day 1, 10 mg/kg on days 3 and 6), and thymoglobulin (1.25 mg/kg on days 7, 9, 11). Other supportive care was performed according to the guideline for stem cell transplantation of our center ( 6 ). The number of infused nucleated cells and CD34-positive cells were 7.6×10 8 /kg and 6.2×10 6 /kg, respectively. He received G-CSF from 7 days after stem cell infusion and the nadir of white blood cells (0.09×10 9 /L) occurred 12 days after transplantation. The number of days required for absolute neutrophil count of more than 0.5×10 9 /L and 1.0× 10 9 /L were 14 days and 15 days, respectively, and spontaneous platelet recovery to more than 20×10 9 /L and 100× 10 9 /L required 16 days and 43 days, respectively. Grade I hematuria, grade II proteinuria, and grade II hepatic toxicity occurred during the transplantation but recovered spontaneously. No other serious complications occurred during transplantation. Grade II acute GVHD occurred 17 days after transplantation but resolved after the treatment with steroid. Bone marrow examination performed at one month post-transplantation revealed the donor type chimerism at 98.4% analyzed by short tandem repeat analysis and the normal polymerase chain reaction pattern in exons of the WAS gene ( Fig. 1 ). After 3 months of transplantation, complete donor type chimerism was achieved. Post-transplatation lymphoproliferative disease occurred 4 months after BMT but completely resolved with rituximab therapy. Chronic GVHD did not occur, and he is alive at 16 months after transplantation without any disease characteristics of WAS."}
|
{'CASE REPORT': "A 3-yr-old boy was admitted because of eczema, recurrent infection, and thrombocytopenia with a platelet count less than 10×10 9 /L and was diagnosed as having WAS with a large deletion in the exon 1 to 11 of the WAS gene ( Fig. 1 ). For the detection of mutation, the following primers were used; exon 1 forward 5'-GGT TTT TTG CAT TTC CTG TTC-3' and exon 1 reverse 5'-AGG AAG AGG AAG AAA CGG TG-3', exon 2 forward 5'-CCT GAC CAG ACT CCA CTG AC-3' and exon 2 reverse 5'-CTT GAA GCT ATG GAC ACA TAT G-3', exon 3 forward 5'CCT CAG TGC CAC TGT GCC TC3' and exon 3 reverse 5'-TTC CCA TCT CCT CTC CAC AC-3', exon 4 forward 5'-GTG TGG AGA GGA GAT GGG AA-3' and exon 4 reverse 5'-CAC TCA CCT CTG CCC AAC TT-3', exon 5 forward 5'-AAG TTG GGC AGA GGT GAG TG-3' and exon 5 reverse 5'-AGA GAG TTA TCA CAG CCC TG-3', exon 6 forward 5'-GGC TGT GAT AAC TCT CTA CA-3' and exon 6 reverse 5'-CCA TCC ATC CAG AGA CAC AG-3', exon 7 forward 5'-TGG TAA GTG GGT CAA TGA GC-3' and exon 7 reverse 5'-CAG CTG TCC ACT TGT TCA TG-3', exon 8 forward 5'-AAG GAA GGG CAG TGA GGA TT-3'and exon 8 reverse 5'-GGT GGA AGT TTA GTG GAG TC-3', exon 9 forward 5'-CGC CTT ATT CCT CTA CTC CT-3'and exon 9 reverse 5'-GAC TGA GTG ACT TAG TGC GT-3', exon 10-1 forward 5'-TCA GTC AGG AGT TGG TCA GT-3'and exon 10-1 reverse 5'-GTC CAG AAC GTC CAG TAG CT-3', exon 10-2 forward 5'-CAG CTA CTG GAC GTT CTG GA-3'and exon 10-2 reverse 5'-CAG TAT CCT GAC TTA GAC GG-3', exon 11 forward 5'-GAG AAA TGC TCC TTT CCC AG-3'and exon 11 reverse 5'-TAG CCC TGG GAG CCA GGT TT-3', exon 12 forward 5'-CTC CCA GGG CAT CTT ATC TT-3'and exon 12 reverse 5'-AGC ACA GGG CAG CAA GTA AC-3'. He received transplantation from an HLA-A, B, C, DR, and DQ-matched unrelated male donor confirmed by a high-resolution molecular method, after the conditioning regimen composed of fludarabine (40 mg/m 2 on days -8, -7, -6, -5, -4, -3), busulfan (0.8 mg/kg i.v. q 6 hr on days -6, -5, -4, -3), and thymoglobulin (2.5 mg/kg on days -4, -3, -2). Written informed consent was obtained from parents of the patient before transplantation. Graft versus host disease (GVHD) prophylaxis was composed of cyclosporin, methotrexate (15 mg/kg on day 1, 10 mg/kg on days 3 and 6), and thymoglobulin (1.25 mg/kg on days 7, 9, 11). Other supportive care was performed according to the guideline for stem cell transplantation of our center ( 6 ). The number of infused nucleated cells and CD34-positive cells were 7.6×10 8 /kg and 6.2×10 6 /kg, respectively. He received G-CSF from 7 days after stem cell infusion and the nadir of white blood cells (0.09×10 9 /L) occurred 12 days after transplantation. The number of days required for absolute neutrophil count of more than 0.5×10 9 /L and 1.0× 10 9 /L were 14 days and 15 days, respectively, and spontaneous platelet recovery to more than 20×10 9 /L and 100× 10 9 /L required 16 days and 43 days, respectively. Grade I hematuria, grade II proteinuria, and grade II hepatic toxicity occurred during the transplantation but recovered spontaneously. No other serious complications occurred during transplantation. Grade II acute GVHD occurred 17 days after transplantation but resolved after the treatment with steroid. Bone marrow examination performed at one month post-transplantation revealed the donor type chimerism at 98.4% analyzed by short tandem repeat analysis and the normal polymerase chain reaction pattern in exons of the WAS gene ( Fig. 1 ). After 3 months of transplantation, complete donor type chimerism was achieved. Post-transplatation lymphoproliferative disease occurred 4 months after BMT but completely resolved with rituximab therapy. Chronic GVHD did not occur, and he is alive at 16 months after transplantation without any disease characteristics of WAS."}
|
IEM-Treatment
|
IEM_Treatment
|
[] |
2719213
|
{'CASE REPORT': 'Patient 1 (UPN 1) is a male who was diagnosed with WAS at the age of 5 months. He presented with incidentally detected thrombocytopenia (23,000/µL) with skin eczema and severe, recurrent otitis media and diarrhea on admission. The second male patient (UPN 2) presented with neonatal thrombocytopenia at birth and received intermittent intravenous immunoglobulin (IVIG). Thereafter he experienced skin eczema and recurrent infections such as cellulitis and pneumonia, until he visited our hospital at 3 months old. Flow cytometric analysis of peripheral blood mononuclear cells (PBMC) for these 2 patients revealed a defect in WASP, leading to the diagnosis of WAS. Subsequently, the nonsense mutations, Arg211stop and Arg13stop, were confirmed by genomic analysis ( 17 ). Before transplantation, these patients were treated with monthly infusions of IVIG as well as supportive treatment but there was no clinical improvement. CBSCT was performed in a laminar air flow room with conventional supportive therapy. The pre-transplantation conditioning regimen for the 2 patients was 1 mg/kg of busulfan intravenously every 6 hr on days -9 through -6. This was followed by 50 mg/kg of intravenous cyclophosphamide on days -5 through -3 and 30 mg/kg of intravenous antithymocyte globulin (ATG) on days -3 through -1. Prophylaxis for acute graft versus host disease (GVHD) included continuous infusion of cyclosporine A beginning on day -1, targeting whole blood levels to be 200 to 400 ng/mL, and 1 mg/kg/dose of methylprednisone every 12 hr on days 5 through 19, and then a taper. The degree of human leukocyte antigen (HLA) match confirmed by high resolution DNA typing between the infused CB and the patients was 4/6 for UPN 1 and 5/6 for UPN 2. Infused cell doses of TNC and CD34+ cells for UPN1 and UPN2 were 6.24×10 7 /kg and 5.08×10 7 /kg for TNC, respectively, and 1.33×10 5 /kg and 4.8×10 5 /kg for CD34+ cells, respectively. T-, NK-, and B-cell enumeration and quantitative immunoglobulin studies (for immunoglobulin G, A, M, D, and E) were performed. Cytofluorographic analyses of lymphocyte subpopulations were performed with murine monoclonal antibodies conjugated to either fluorescein (FITC) or phycoerythrin (PE) and then analyzed by flow cytometry (FACScan; Becton Dickinson, San Jose, CA, U.S.A.). Heparinized venous blood samples from patients and family members were fractionated on a Ficoll-Hypaque gradient to isolate PBMCs. For mutational analysis, genomic DNA was extracted from the peripheral lymphocytes, and 12 WASP gene exons were amplified by polymerase chain reaction (PCR) followed by direct sequencing according to the protocol of Sasahara et al. ( 18 ). Hematopoietic reconstitution following CBSCT was uneventful, with an absolute neutrophil count (ANC) of more than 500/µL on days 31 and 13 and a platelet count of more than 20,000/µL on days 58 and 50, for UPN 1 and UPN 2, respectively. Molecular chimerism studies using the VNTR method showed a complete donor cell type for these patients (data not shown). Acute GVHD did not occur, even after the infusion of HLA 1 or 2 antigen mismatched CB. UPN 1 experienced 1 episode of sepsis with B. cepacia during the pre-engraftment period without any complications. UPN 2 experienced fever and respiratory distress with hypoxemia due to pulmonary edema as well as skin rashes on the trunk in the pre-engraftment period (from days 8 to days 10), which mimics engraftment syndrome. He recovered with oxygen supply via endotracheal tube and fluid restriction as well as methylprednisone therapy. Both patients were clinically well without eczematous skin and recurrent infections at 60 months (UPN 1) and 55 months (UPN 2) post CBSCT. Clinical data regarding CBSCT are shown in Table 1 . The elevated total eosinophil counts and serum IgE levels have been normalized since 7 months post-transplantation in both children ( Table 2 ). Other immunologic parameters including IgG, IgA, IgM, IgD and lymphocyte subsets are summarized at Table 2 . To determine whether the genotype was corrected by CBSCT, we analyzed the WASP gene sequence before and after CBSCT in UPN 1. UPN 1 had a single base substitution (C665T) in exon 7 that results in an amino acid change in codon 211 (Arg211stop) before CBSCT. Following CBSCT, UPN1 had a normal sequence at the mutation site in exon 7 of the WASP gene ( Fig. 1 ).'}
|
{'CASE REPORT': 'Patient 1 (UPN 1) is a male who was diagnosed with WAS at the age of 5 months. He presented with incidentally detected thrombocytopenia (23,000/µL) with skin eczema and severe, recurrent otitis media and diarrhea on admission. The second male patient (UPN 2) presented with neonatal thrombocytopenia at birth and received intermittent intravenous immunoglobulin (IVIG). Thereafter he experienced skin eczema and recurrent infections such as cellulitis and pneumonia, until he visited our hospital at 3 months old. Flow cytometric analysis of peripheral blood mononuclear cells (PBMC) for these 2 patients revealed a defect in WASP, leading to the diagnosis of WAS. Subsequently, the nonsense mutations, Arg211stop and Arg13stop, were confirmed by genomic analysis ( 17 ). Before transplantation, these patients were treated with monthly infusions of IVIG as well as supportive treatment but there was no clinical improvement. CBSCT was performed in a laminar air flow room with conventional supportive therapy. The pre-transplantation conditioning regimen for the 2 patients was 1 mg/kg of busulfan intravenously every 6 hr on days -9 through -6. This was followed by 50 mg/kg of intravenous cyclophosphamide on days -5 through -3 and 30 mg/kg of intravenous antithymocyte globulin (ATG) on days -3 through -1. Prophylaxis for acute graft versus host disease (GVHD) included continuous infusion of cyclosporine A beginning on day -1, targeting whole blood levels to be 200 to 400 ng/mL, and 1 mg/kg/dose of methylprednisone every 12 hr on days 5 through 19, and then a taper. The degree of human leukocyte antigen (HLA) match confirmed by high resolution DNA typing between the infused CB and the patients was 4/6 for UPN 1 and 5/6 for UPN 2. Infused cell doses of TNC and CD34+ cells for UPN1 and UPN2 were 6.24×10 7 /kg and 5.08×10 7 /kg for TNC, respectively, and 1.33×10 5 /kg and 4.8×10 5 /kg for CD34+ cells, respectively. T-, NK-, and B-cell enumeration and quantitative immunoglobulin studies (for immunoglobulin G, A, M, D, and E) were performed. Cytofluorographic analyses of lymphocyte subpopulations were performed with murine monoclonal antibodies conjugated to either fluorescein (FITC) or phycoerythrin (PE) and then analyzed by flow cytometry (FACScan; Becton Dickinson, San Jose, CA, U.S.A.). Heparinized venous blood samples from patients and family members were fractionated on a Ficoll-Hypaque gradient to isolate PBMCs. For mutational analysis, genomic DNA was extracted from the peripheral lymphocytes, and 12 WASP gene exons were amplified by polymerase chain reaction (PCR) followed by direct sequencing according to the protocol of Sasahara et al. ( 18 ). Hematopoietic reconstitution following CBSCT was uneventful, with an absolute neutrophil count (ANC) of more than 500/µL on days 31 and 13 and a platelet count of more than 20,000/µL on days 58 and 50, for UPN 1 and UPN 2, respectively. Molecular chimerism studies using the VNTR method showed a complete donor cell type for these patients (data not shown). Acute GVHD did not occur, even after the infusion of HLA 1 or 2 antigen mismatched CB. UPN 1 experienced 1 episode of sepsis with B. cepacia during the pre-engraftment period without any complications. UPN 2 experienced fever and respiratory distress with hypoxemia due to pulmonary edema as well as skin rashes on the trunk in the pre-engraftment period (from days 8 to days 10), which mimics engraftment syndrome. He recovered with oxygen supply via endotracheal tube and fluid restriction as well as methylprednisone therapy. Both patients were clinically well without eczematous skin and recurrent infections at 60 months (UPN 1) and 55 months (UPN 2) post CBSCT. Clinical data regarding CBSCT are shown in Table 1 . The elevated total eosinophil counts and serum IgE levels have been normalized since 7 months post-transplantation in both children ( Table 2 ). Other immunologic parameters including IgG, IgA, IgM, IgD and lymphocyte subsets are summarized at Table 2 . To determine whether the genotype was corrected by CBSCT, we analyzed the WASP gene sequence before and after CBSCT in UPN 1. UPN 1 had a single base substitution (C665T) in exon 7 that results in an amino acid change in codon 211 (Arg211stop) before CBSCT. Following CBSCT, UPN1 had a normal sequence at the mutation site in exon 7 of the WASP gene ( Fig. 1 ).'}
|
Vitals-and-Hematology
|
Vitals_Hema
|
[
"thrombocytopenia ( 23,000/µL )",
"neonatal thrombocytopenia at birth"
] |
2719213
|
{'CASE REPORT': 'Patient 1 (UPN 1) is a male who was diagnosed with WAS at the age of 5 months. He presented with incidentally detected thrombocytopenia (23,000/µL) with skin eczema and severe, recurrent otitis media and diarrhea on admission. The second male patient (UPN 2) presented with neonatal thrombocytopenia at birth and received intermittent intravenous immunoglobulin (IVIG). Thereafter he experienced skin eczema and recurrent infections such as cellulitis and pneumonia, until he visited our hospital at 3 months old. Flow cytometric analysis of peripheral blood mononuclear cells (PBMC) for these 2 patients revealed a defect in WASP, leading to the diagnosis of WAS. Subsequently, the nonsense mutations, Arg211stop and Arg13stop, were confirmed by genomic analysis ( 17 ). Before transplantation, these patients were treated with monthly infusions of IVIG as well as supportive treatment but there was no clinical improvement. CBSCT was performed in a laminar air flow room with conventional supportive therapy. The pre-transplantation conditioning regimen for the 2 patients was 1 mg/kg of busulfan intravenously every 6 hr on days -9 through -6. This was followed by 50 mg/kg of intravenous cyclophosphamide on days -5 through -3 and 30 mg/kg of intravenous antithymocyte globulin (ATG) on days -3 through -1. Prophylaxis for acute graft versus host disease (GVHD) included continuous infusion of cyclosporine A beginning on day -1, targeting whole blood levels to be 200 to 400 ng/mL, and 1 mg/kg/dose of methylprednisone every 12 hr on days 5 through 19, and then a taper. The degree of human leukocyte antigen (HLA) match confirmed by high resolution DNA typing between the infused CB and the patients was 4/6 for UPN 1 and 5/6 for UPN 2. Infused cell doses of TNC and CD34+ cells for UPN1 and UPN2 were 6.24×10 7 /kg and 5.08×10 7 /kg for TNC, respectively, and 1.33×10 5 /kg and 4.8×10 5 /kg for CD34+ cells, respectively. T-, NK-, and B-cell enumeration and quantitative immunoglobulin studies (for immunoglobulin G, A, M, D, and E) were performed. Cytofluorographic analyses of lymphocyte subpopulations were performed with murine monoclonal antibodies conjugated to either fluorescein (FITC) or phycoerythrin (PE) and then analyzed by flow cytometry (FACScan; Becton Dickinson, San Jose, CA, U.S.A.). Heparinized venous blood samples from patients and family members were fractionated on a Ficoll-Hypaque gradient to isolate PBMCs. For mutational analysis, genomic DNA was extracted from the peripheral lymphocytes, and 12 WASP gene exons were amplified by polymerase chain reaction (PCR) followed by direct sequencing according to the protocol of Sasahara et al. ( 18 ). Hematopoietic reconstitution following CBSCT was uneventful, with an absolute neutrophil count (ANC) of more than 500/µL on days 31 and 13 and a platelet count of more than 20,000/µL on days 58 and 50, for UPN 1 and UPN 2, respectively. Molecular chimerism studies using the VNTR method showed a complete donor cell type for these patients (data not shown). Acute GVHD did not occur, even after the infusion of HLA 1 or 2 antigen mismatched CB. UPN 1 experienced 1 episode of sepsis with B. cepacia during the pre-engraftment period without any complications. UPN 2 experienced fever and respiratory distress with hypoxemia due to pulmonary edema as well as skin rashes on the trunk in the pre-engraftment period (from days 8 to days 10), which mimics engraftment syndrome. He recovered with oxygen supply via endotracheal tube and fluid restriction as well as methylprednisone therapy. Both patients were clinically well without eczematous skin and recurrent infections at 60 months (UPN 1) and 55 months (UPN 2) post CBSCT. Clinical data regarding CBSCT are shown in Table 1 . The elevated total eosinophil counts and serum IgE levels have been normalized since 7 months post-transplantation in both children ( Table 2 ). Other immunologic parameters including IgG, IgA, IgM, IgD and lymphocyte subsets are summarized at Table 2 . To determine whether the genotype was corrected by CBSCT, we analyzed the WASP gene sequence before and after CBSCT in UPN 1. UPN 1 had a single base substitution (C665T) in exon 7 that results in an amino acid change in codon 211 (Arg211stop) before CBSCT. Following CBSCT, UPN1 had a normal sequence at the mutation site in exon 7 of the WASP gene ( Fig. 1 ).'}
|
{'CASE REPORT': 'Patient 1 (UPN 1) is a male who was diagnosed with WAS at the age of 5 months. He presented with incidentally detected thrombocytopenia (23,000/µL) with skin eczema and severe, recurrent otitis media and diarrhea on admission. The second male patient (UPN 2) presented with neonatal thrombocytopenia at birth and received intermittent intravenous immunoglobulin (IVIG). Thereafter he experienced skin eczema and recurrent infections such as cellulitis and pneumonia, until he visited our hospital at 3 months old. Flow cytometric analysis of peripheral blood mononuclear cells (PBMC) for these 2 patients revealed a defect in WASP, leading to the diagnosis of WAS. Subsequently, the nonsense mutations, Arg211stop and Arg13stop, were confirmed by genomic analysis ( 17 ). Before transplantation, these patients were treated with monthly infusions of IVIG as well as supportive treatment but there was no clinical improvement. CBSCT was performed in a laminar air flow room with conventional supportive therapy. The pre-transplantation conditioning regimen for the 2 patients was 1 mg/kg of busulfan intravenously every 6 hr on days -9 through -6. This was followed by 50 mg/kg of intravenous cyclophosphamide on days -5 through -3 and 30 mg/kg of intravenous antithymocyte globulin (ATG) on days -3 through -1. Prophylaxis for acute graft versus host disease (GVHD) included continuous infusion of cyclosporine A beginning on day -1, targeting whole blood levels to be 200 to 400 ng/mL, and 1 mg/kg/dose of methylprednisone every 12 hr on days 5 through 19, and then a taper. The degree of human leukocyte antigen (HLA) match confirmed by high resolution DNA typing between the infused CB and the patients was 4/6 for UPN 1 and 5/6 for UPN 2. Infused cell doses of TNC and CD34+ cells for UPN1 and UPN2 were 6.24×10 7 /kg and 5.08×10 7 /kg for TNC, respectively, and 1.33×10 5 /kg and 4.8×10 5 /kg for CD34+ cells, respectively. T-, NK-, and B-cell enumeration and quantitative immunoglobulin studies (for immunoglobulin G, A, M, D, and E) were performed. Cytofluorographic analyses of lymphocyte subpopulations were performed with murine monoclonal antibodies conjugated to either fluorescein (FITC) or phycoerythrin (PE) and then analyzed by flow cytometry (FACScan; Becton Dickinson, San Jose, CA, U.S.A.). Heparinized venous blood samples from patients and family members were fractionated on a Ficoll-Hypaque gradient to isolate PBMCs. For mutational analysis, genomic DNA was extracted from the peripheral lymphocytes, and 12 WASP gene exons were amplified by polymerase chain reaction (PCR) followed by direct sequencing according to the protocol of Sasahara et al. ( 18 ). Hematopoietic reconstitution following CBSCT was uneventful, with an absolute neutrophil count (ANC) of more than 500/µL on days 31 and 13 and a platelet count of more than 20,000/µL on days 58 and 50, for UPN 1 and UPN 2, respectively. Molecular chimerism studies using the VNTR method showed a complete donor cell type for these patients (data not shown). Acute GVHD did not occur, even after the infusion of HLA 1 or 2 antigen mismatched CB. UPN 1 experienced 1 episode of sepsis with B. cepacia during the pre-engraftment period without any complications. UPN 2 experienced fever and respiratory distress with hypoxemia due to pulmonary edema as well as skin rashes on the trunk in the pre-engraftment period (from days 8 to days 10), which mimics engraftment syndrome. He recovered with oxygen supply via endotracheal tube and fluid restriction as well as methylprednisone therapy. Both patients were clinically well without eczematous skin and recurrent infections at 60 months (UPN 1) and 55 months (UPN 2) post CBSCT. Clinical data regarding CBSCT are shown in Table 1 . The elevated total eosinophil counts and serum IgE levels have been normalized since 7 months post-transplantation in both children ( Table 2 ). Other immunologic parameters including IgG, IgA, IgM, IgD and lymphocyte subsets are summarized at Table 2 . To determine whether the genotype was corrected by CBSCT, we analyzed the WASP gene sequence before and after CBSCT in UPN 1. UPN 1 had a single base substitution (C665T) in exon 7 that results in an amino acid change in codon 211 (Arg211stop) before CBSCT. Following CBSCT, UPN1 had a normal sequence at the mutation site in exon 7 of the WASP gene ( Fig. 1 ).'}
|
Gastrointestinal-System
|
GI
|
[
"diarrhea"
] |
2719213
|
{'CASE REPORT': 'Patient 1 (UPN 1) is a male who was diagnosed with WAS at the age of 5 months. He presented with incidentally detected thrombocytopenia (23,000/µL) with skin eczema and severe, recurrent otitis media and diarrhea on admission. The second male patient (UPN 2) presented with neonatal thrombocytopenia at birth and received intermittent intravenous immunoglobulin (IVIG). Thereafter he experienced skin eczema and recurrent infections such as cellulitis and pneumonia, until he visited our hospital at 3 months old. Flow cytometric analysis of peripheral blood mononuclear cells (PBMC) for these 2 patients revealed a defect in WASP, leading to the diagnosis of WAS. Subsequently, the nonsense mutations, Arg211stop and Arg13stop, were confirmed by genomic analysis ( 17 ). Before transplantation, these patients were treated with monthly infusions of IVIG as well as supportive treatment but there was no clinical improvement. CBSCT was performed in a laminar air flow room with conventional supportive therapy. The pre-transplantation conditioning regimen for the 2 patients was 1 mg/kg of busulfan intravenously every 6 hr on days -9 through -6. This was followed by 50 mg/kg of intravenous cyclophosphamide on days -5 through -3 and 30 mg/kg of intravenous antithymocyte globulin (ATG) on days -3 through -1. Prophylaxis for acute graft versus host disease (GVHD) included continuous infusion of cyclosporine A beginning on day -1, targeting whole blood levels to be 200 to 400 ng/mL, and 1 mg/kg/dose of methylprednisone every 12 hr on days 5 through 19, and then a taper. The degree of human leukocyte antigen (HLA) match confirmed by high resolution DNA typing between the infused CB and the patients was 4/6 for UPN 1 and 5/6 for UPN 2. Infused cell doses of TNC and CD34+ cells for UPN1 and UPN2 were 6.24×10 7 /kg and 5.08×10 7 /kg for TNC, respectively, and 1.33×10 5 /kg and 4.8×10 5 /kg for CD34+ cells, respectively. T-, NK-, and B-cell enumeration and quantitative immunoglobulin studies (for immunoglobulin G, A, M, D, and E) were performed. Cytofluorographic analyses of lymphocyte subpopulations were performed with murine monoclonal antibodies conjugated to either fluorescein (FITC) or phycoerythrin (PE) and then analyzed by flow cytometry (FACScan; Becton Dickinson, San Jose, CA, U.S.A.). Heparinized venous blood samples from patients and family members were fractionated on a Ficoll-Hypaque gradient to isolate PBMCs. For mutational analysis, genomic DNA was extracted from the peripheral lymphocytes, and 12 WASP gene exons were amplified by polymerase chain reaction (PCR) followed by direct sequencing according to the protocol of Sasahara et al. ( 18 ). Hematopoietic reconstitution following CBSCT was uneventful, with an absolute neutrophil count (ANC) of more than 500/µL on days 31 and 13 and a platelet count of more than 20,000/µL on days 58 and 50, for UPN 1 and UPN 2, respectively. Molecular chimerism studies using the VNTR method showed a complete donor cell type for these patients (data not shown). Acute GVHD did not occur, even after the infusion of HLA 1 or 2 antigen mismatched CB. UPN 1 experienced 1 episode of sepsis with B. cepacia during the pre-engraftment period without any complications. UPN 2 experienced fever and respiratory distress with hypoxemia due to pulmonary edema as well as skin rashes on the trunk in the pre-engraftment period (from days 8 to days 10), which mimics engraftment syndrome. He recovered with oxygen supply via endotracheal tube and fluid restriction as well as methylprednisone therapy. Both patients were clinically well without eczematous skin and recurrent infections at 60 months (UPN 1) and 55 months (UPN 2) post CBSCT. Clinical data regarding CBSCT are shown in Table 1 . The elevated total eosinophil counts and serum IgE levels have been normalized since 7 months post-transplantation in both children ( Table 2 ). Other immunologic parameters including IgG, IgA, IgM, IgD and lymphocyte subsets are summarized at Table 2 . To determine whether the genotype was corrected by CBSCT, we analyzed the WASP gene sequence before and after CBSCT in UPN 1. UPN 1 had a single base substitution (C665T) in exon 7 that results in an amino acid change in codon 211 (Arg211stop) before CBSCT. Following CBSCT, UPN1 had a normal sequence at the mutation site in exon 7 of the WASP gene ( Fig. 1 ).'}
|
{'CASE REPORT': 'Patient 1 (UPN 1) is a male who was diagnosed with WAS at the age of 5 months. He presented with incidentally detected thrombocytopenia (23,000/µL) with skin eczema and severe, recurrent otitis media and diarrhea on admission. The second male patient (UPN 2) presented with neonatal thrombocytopenia at birth and received intermittent intravenous immunoglobulin (IVIG). Thereafter he experienced skin eczema and recurrent infections such as cellulitis and pneumonia, until he visited our hospital at 3 months old. Flow cytometric analysis of peripheral blood mononuclear cells (PBMC) for these 2 patients revealed a defect in WASP, leading to the diagnosis of WAS. Subsequently, the nonsense mutations, Arg211stop and Arg13stop, were confirmed by genomic analysis ( 17 ). Before transplantation, these patients were treated with monthly infusions of IVIG as well as supportive treatment but there was no clinical improvement. CBSCT was performed in a laminar air flow room with conventional supportive therapy. The pre-transplantation conditioning regimen for the 2 patients was 1 mg/kg of busulfan intravenously every 6 hr on days -9 through -6. This was followed by 50 mg/kg of intravenous cyclophosphamide on days -5 through -3 and 30 mg/kg of intravenous antithymocyte globulin (ATG) on days -3 through -1. Prophylaxis for acute graft versus host disease (GVHD) included continuous infusion of cyclosporine A beginning on day -1, targeting whole blood levels to be 200 to 400 ng/mL, and 1 mg/kg/dose of methylprednisone every 12 hr on days 5 through 19, and then a taper. The degree of human leukocyte antigen (HLA) match confirmed by high resolution DNA typing between the infused CB and the patients was 4/6 for UPN 1 and 5/6 for UPN 2. Infused cell doses of TNC and CD34+ cells for UPN1 and UPN2 were 6.24×10 7 /kg and 5.08×10 7 /kg for TNC, respectively, and 1.33×10 5 /kg and 4.8×10 5 /kg for CD34+ cells, respectively. T-, NK-, and B-cell enumeration and quantitative immunoglobulin studies (for immunoglobulin G, A, M, D, and E) were performed. Cytofluorographic analyses of lymphocyte subpopulations were performed with murine monoclonal antibodies conjugated to either fluorescein (FITC) or phycoerythrin (PE) and then analyzed by flow cytometry (FACScan; Becton Dickinson, San Jose, CA, U.S.A.). Heparinized venous blood samples from patients and family members were fractionated on a Ficoll-Hypaque gradient to isolate PBMCs. For mutational analysis, genomic DNA was extracted from the peripheral lymphocytes, and 12 WASP gene exons were amplified by polymerase chain reaction (PCR) followed by direct sequencing according to the protocol of Sasahara et al. ( 18 ). Hematopoietic reconstitution following CBSCT was uneventful, with an absolute neutrophil count (ANC) of more than 500/µL on days 31 and 13 and a platelet count of more than 20,000/µL on days 58 and 50, for UPN 1 and UPN 2, respectively. Molecular chimerism studies using the VNTR method showed a complete donor cell type for these patients (data not shown). Acute GVHD did not occur, even after the infusion of HLA 1 or 2 antigen mismatched CB. UPN 1 experienced 1 episode of sepsis with B. cepacia during the pre-engraftment period without any complications. UPN 2 experienced fever and respiratory distress with hypoxemia due to pulmonary edema as well as skin rashes on the trunk in the pre-engraftment period (from days 8 to days 10), which mimics engraftment syndrome. He recovered with oxygen supply via endotracheal tube and fluid restriction as well as methylprednisone therapy. Both patients were clinically well without eczematous skin and recurrent infections at 60 months (UPN 1) and 55 months (UPN 2) post CBSCT. Clinical data regarding CBSCT are shown in Table 1 . The elevated total eosinophil counts and serum IgE levels have been normalized since 7 months post-transplantation in both children ( Table 2 ). Other immunologic parameters including IgG, IgA, IgM, IgD and lymphocyte subsets are summarized at Table 2 . To determine whether the genotype was corrected by CBSCT, we analyzed the WASP gene sequence before and after CBSCT in UPN 1. UPN 1 had a single base substitution (C665T) in exon 7 that results in an amino acid change in codon 211 (Arg211stop) before CBSCT. Following CBSCT, UPN1 had a normal sequence at the mutation site in exon 7 of the WASP gene ( Fig. 1 ).'}
|
Patient-History
|
History
|
[
"Patient 1 ( UPN 1 ) is a male who was diagnosed with WAS at the age of 5 months. He presented with incidentally detected thrombocytopenia ( 23,000/µL ) with skin eczema and severe, recurrent otitis media and diarrhea on admission",
"The second male patient ( UPN 2 ) presented with neonatal thrombocytopenia at birth",
"Thereafter he experienced skin eczema and recurrent infections such as cellulitis and pneumonia, until he visited our hospital at 3 months old"
] |
2719213
|
{'CASE REPORT': 'Patient 1 (UPN 1) is a male who was diagnosed with WAS at the age of 5 months. He presented with incidentally detected thrombocytopenia (23,000/µL) with skin eczema and severe, recurrent otitis media and diarrhea on admission. The second male patient (UPN 2) presented with neonatal thrombocytopenia at birth and received intermittent intravenous immunoglobulin (IVIG). Thereafter he experienced skin eczema and recurrent infections such as cellulitis and pneumonia, until he visited our hospital at 3 months old. Flow cytometric analysis of peripheral blood mononuclear cells (PBMC) for these 2 patients revealed a defect in WASP, leading to the diagnosis of WAS. Subsequently, the nonsense mutations, Arg211stop and Arg13stop, were confirmed by genomic analysis ( 17 ). Before transplantation, these patients were treated with monthly infusions of IVIG as well as supportive treatment but there was no clinical improvement. CBSCT was performed in a laminar air flow room with conventional supportive therapy. The pre-transplantation conditioning regimen for the 2 patients was 1 mg/kg of busulfan intravenously every 6 hr on days -9 through -6. This was followed by 50 mg/kg of intravenous cyclophosphamide on days -5 through -3 and 30 mg/kg of intravenous antithymocyte globulin (ATG) on days -3 through -1. Prophylaxis for acute graft versus host disease (GVHD) included continuous infusion of cyclosporine A beginning on day -1, targeting whole blood levels to be 200 to 400 ng/mL, and 1 mg/kg/dose of methylprednisone every 12 hr on days 5 through 19, and then a taper. The degree of human leukocyte antigen (HLA) match confirmed by high resolution DNA typing between the infused CB and the patients was 4/6 for UPN 1 and 5/6 for UPN 2. Infused cell doses of TNC and CD34+ cells for UPN1 and UPN2 were 6.24×10 7 /kg and 5.08×10 7 /kg for TNC, respectively, and 1.33×10 5 /kg and 4.8×10 5 /kg for CD34+ cells, respectively. T-, NK-, and B-cell enumeration and quantitative immunoglobulin studies (for immunoglobulin G, A, M, D, and E) were performed. Cytofluorographic analyses of lymphocyte subpopulations were performed with murine monoclonal antibodies conjugated to either fluorescein (FITC) or phycoerythrin (PE) and then analyzed by flow cytometry (FACScan; Becton Dickinson, San Jose, CA, U.S.A.). Heparinized venous blood samples from patients and family members were fractionated on a Ficoll-Hypaque gradient to isolate PBMCs. For mutational analysis, genomic DNA was extracted from the peripheral lymphocytes, and 12 WASP gene exons were amplified by polymerase chain reaction (PCR) followed by direct sequencing according to the protocol of Sasahara et al. ( 18 ). Hematopoietic reconstitution following CBSCT was uneventful, with an absolute neutrophil count (ANC) of more than 500/µL on days 31 and 13 and a platelet count of more than 20,000/µL on days 58 and 50, for UPN 1 and UPN 2, respectively. Molecular chimerism studies using the VNTR method showed a complete donor cell type for these patients (data not shown). Acute GVHD did not occur, even after the infusion of HLA 1 or 2 antigen mismatched CB. UPN 1 experienced 1 episode of sepsis with B. cepacia during the pre-engraftment period without any complications. UPN 2 experienced fever and respiratory distress with hypoxemia due to pulmonary edema as well as skin rashes on the trunk in the pre-engraftment period (from days 8 to days 10), which mimics engraftment syndrome. He recovered with oxygen supply via endotracheal tube and fluid restriction as well as methylprednisone therapy. Both patients were clinically well without eczematous skin and recurrent infections at 60 months (UPN 1) and 55 months (UPN 2) post CBSCT. Clinical data regarding CBSCT are shown in Table 1 . The elevated total eosinophil counts and serum IgE levels have been normalized since 7 months post-transplantation in both children ( Table 2 ). Other immunologic parameters including IgG, IgA, IgM, IgD and lymphocyte subsets are summarized at Table 2 . To determine whether the genotype was corrected by CBSCT, we analyzed the WASP gene sequence before and after CBSCT in UPN 1. UPN 1 had a single base substitution (C665T) in exon 7 that results in an amino acid change in codon 211 (Arg211stop) before CBSCT. Following CBSCT, UPN1 had a normal sequence at the mutation site in exon 7 of the WASP gene ( Fig. 1 ).'}
|
{'CASE REPORT': 'Patient 1 (UPN 1) is a male who was diagnosed with WAS at the age of 5 months. He presented with incidentally detected thrombocytopenia (23,000/µL) with skin eczema and severe, recurrent otitis media and diarrhea on admission. The second male patient (UPN 2) presented with neonatal thrombocytopenia at birth and received intermittent intravenous immunoglobulin (IVIG). Thereafter he experienced skin eczema and recurrent infections such as cellulitis and pneumonia, until he visited our hospital at 3 months old. Flow cytometric analysis of peripheral blood mononuclear cells (PBMC) for these 2 patients revealed a defect in WASP, leading to the diagnosis of WAS. Subsequently, the nonsense mutations, Arg211stop and Arg13stop, were confirmed by genomic analysis ( 17 ). Before transplantation, these patients were treated with monthly infusions of IVIG as well as supportive treatment but there was no clinical improvement. CBSCT was performed in a laminar air flow room with conventional supportive therapy. The pre-transplantation conditioning regimen for the 2 patients was 1 mg/kg of busulfan intravenously every 6 hr on days -9 through -6. This was followed by 50 mg/kg of intravenous cyclophosphamide on days -5 through -3 and 30 mg/kg of intravenous antithymocyte globulin (ATG) on days -3 through -1. Prophylaxis for acute graft versus host disease (GVHD) included continuous infusion of cyclosporine A beginning on day -1, targeting whole blood levels to be 200 to 400 ng/mL, and 1 mg/kg/dose of methylprednisone every 12 hr on days 5 through 19, and then a taper. The degree of human leukocyte antigen (HLA) match confirmed by high resolution DNA typing between the infused CB and the patients was 4/6 for UPN 1 and 5/6 for UPN 2. Infused cell doses of TNC and CD34+ cells for UPN1 and UPN2 were 6.24×10 7 /kg and 5.08×10 7 /kg for TNC, respectively, and 1.33×10 5 /kg and 4.8×10 5 /kg for CD34+ cells, respectively. T-, NK-, and B-cell enumeration and quantitative immunoglobulin studies (for immunoglobulin G, A, M, D, and E) were performed. Cytofluorographic analyses of lymphocyte subpopulations were performed with murine monoclonal antibodies conjugated to either fluorescein (FITC) or phycoerythrin (PE) and then analyzed by flow cytometry (FACScan; Becton Dickinson, San Jose, CA, U.S.A.). Heparinized venous blood samples from patients and family members were fractionated on a Ficoll-Hypaque gradient to isolate PBMCs. For mutational analysis, genomic DNA was extracted from the peripheral lymphocytes, and 12 WASP gene exons were amplified by polymerase chain reaction (PCR) followed by direct sequencing according to the protocol of Sasahara et al. ( 18 ). Hematopoietic reconstitution following CBSCT was uneventful, with an absolute neutrophil count (ANC) of more than 500/µL on days 31 and 13 and a platelet count of more than 20,000/µL on days 58 and 50, for UPN 1 and UPN 2, respectively. Molecular chimerism studies using the VNTR method showed a complete donor cell type for these patients (data not shown). Acute GVHD did not occur, even after the infusion of HLA 1 or 2 antigen mismatched CB. UPN 1 experienced 1 episode of sepsis with B. cepacia during the pre-engraftment period without any complications. UPN 2 experienced fever and respiratory distress with hypoxemia due to pulmonary edema as well as skin rashes on the trunk in the pre-engraftment period (from days 8 to days 10), which mimics engraftment syndrome. He recovered with oxygen supply via endotracheal tube and fluid restriction as well as methylprednisone therapy. Both patients were clinically well without eczematous skin and recurrent infections at 60 months (UPN 1) and 55 months (UPN 2) post CBSCT. Clinical data regarding CBSCT are shown in Table 1 . The elevated total eosinophil counts and serum IgE levels have been normalized since 7 months post-transplantation in both children ( Table 2 ). Other immunologic parameters including IgG, IgA, IgM, IgD and lymphocyte subsets are summarized at Table 2 . To determine whether the genotype was corrected by CBSCT, we analyzed the WASP gene sequence before and after CBSCT in UPN 1. UPN 1 had a single base substitution (C665T) in exon 7 that results in an amino acid change in codon 211 (Arg211stop) before CBSCT. Following CBSCT, UPN1 had a normal sequence at the mutation site in exon 7 of the WASP gene ( Fig. 1 ).'}
|
Neurology
|
Neuro
|
[] |
2719213
|
{'CASE REPORT': 'Patient 1 (UPN 1) is a male who was diagnosed with WAS at the age of 5 months. He presented with incidentally detected thrombocytopenia (23,000/µL) with skin eczema and severe, recurrent otitis media and diarrhea on admission. The second male patient (UPN 2) presented with neonatal thrombocytopenia at birth and received intermittent intravenous immunoglobulin (IVIG). Thereafter he experienced skin eczema and recurrent infections such as cellulitis and pneumonia, until he visited our hospital at 3 months old. Flow cytometric analysis of peripheral blood mononuclear cells (PBMC) for these 2 patients revealed a defect in WASP, leading to the diagnosis of WAS. Subsequently, the nonsense mutations, Arg211stop and Arg13stop, were confirmed by genomic analysis ( 17 ). Before transplantation, these patients were treated with monthly infusions of IVIG as well as supportive treatment but there was no clinical improvement. CBSCT was performed in a laminar air flow room with conventional supportive therapy. The pre-transplantation conditioning regimen for the 2 patients was 1 mg/kg of busulfan intravenously every 6 hr on days -9 through -6. This was followed by 50 mg/kg of intravenous cyclophosphamide on days -5 through -3 and 30 mg/kg of intravenous antithymocyte globulin (ATG) on days -3 through -1. Prophylaxis for acute graft versus host disease (GVHD) included continuous infusion of cyclosporine A beginning on day -1, targeting whole blood levels to be 200 to 400 ng/mL, and 1 mg/kg/dose of methylprednisone every 12 hr on days 5 through 19, and then a taper. The degree of human leukocyte antigen (HLA) match confirmed by high resolution DNA typing between the infused CB and the patients was 4/6 for UPN 1 and 5/6 for UPN 2. Infused cell doses of TNC and CD34+ cells for UPN1 and UPN2 were 6.24×10 7 /kg and 5.08×10 7 /kg for TNC, respectively, and 1.33×10 5 /kg and 4.8×10 5 /kg for CD34+ cells, respectively. T-, NK-, and B-cell enumeration and quantitative immunoglobulin studies (for immunoglobulin G, A, M, D, and E) were performed. Cytofluorographic analyses of lymphocyte subpopulations were performed with murine monoclonal antibodies conjugated to either fluorescein (FITC) or phycoerythrin (PE) and then analyzed by flow cytometry (FACScan; Becton Dickinson, San Jose, CA, U.S.A.). Heparinized venous blood samples from patients and family members were fractionated on a Ficoll-Hypaque gradient to isolate PBMCs. For mutational analysis, genomic DNA was extracted from the peripheral lymphocytes, and 12 WASP gene exons were amplified by polymerase chain reaction (PCR) followed by direct sequencing according to the protocol of Sasahara et al. ( 18 ). Hematopoietic reconstitution following CBSCT was uneventful, with an absolute neutrophil count (ANC) of more than 500/µL on days 31 and 13 and a platelet count of more than 20,000/µL on days 58 and 50, for UPN 1 and UPN 2, respectively. Molecular chimerism studies using the VNTR method showed a complete donor cell type for these patients (data not shown). Acute GVHD did not occur, even after the infusion of HLA 1 or 2 antigen mismatched CB. UPN 1 experienced 1 episode of sepsis with B. cepacia during the pre-engraftment period without any complications. UPN 2 experienced fever and respiratory distress with hypoxemia due to pulmonary edema as well as skin rashes on the trunk in the pre-engraftment period (from days 8 to days 10), which mimics engraftment syndrome. He recovered with oxygen supply via endotracheal tube and fluid restriction as well as methylprednisone therapy. Both patients were clinically well without eczematous skin and recurrent infections at 60 months (UPN 1) and 55 months (UPN 2) post CBSCT. Clinical data regarding CBSCT are shown in Table 1 . The elevated total eosinophil counts and serum IgE levels have been normalized since 7 months post-transplantation in both children ( Table 2 ). Other immunologic parameters including IgG, IgA, IgM, IgD and lymphocyte subsets are summarized at Table 2 . To determine whether the genotype was corrected by CBSCT, we analyzed the WASP gene sequence before and after CBSCT in UPN 1. UPN 1 had a single base substitution (C665T) in exon 7 that results in an amino acid change in codon 211 (Arg211stop) before CBSCT. Following CBSCT, UPN1 had a normal sequence at the mutation site in exon 7 of the WASP gene ( Fig. 1 ).'}
|
{'CASE REPORT': 'Patient 1 (UPN 1) is a male who was diagnosed with WAS at the age of 5 months. He presented with incidentally detected thrombocytopenia (23,000/µL) with skin eczema and severe, recurrent otitis media and diarrhea on admission. The second male patient (UPN 2) presented with neonatal thrombocytopenia at birth and received intermittent intravenous immunoglobulin (IVIG). Thereafter he experienced skin eczema and recurrent infections such as cellulitis and pneumonia, until he visited our hospital at 3 months old. Flow cytometric analysis of peripheral blood mononuclear cells (PBMC) for these 2 patients revealed a defect in WASP, leading to the diagnosis of WAS. Subsequently, the nonsense mutations, Arg211stop and Arg13stop, were confirmed by genomic analysis ( 17 ). Before transplantation, these patients were treated with monthly infusions of IVIG as well as supportive treatment but there was no clinical improvement. CBSCT was performed in a laminar air flow room with conventional supportive therapy. The pre-transplantation conditioning regimen for the 2 patients was 1 mg/kg of busulfan intravenously every 6 hr on days -9 through -6. This was followed by 50 mg/kg of intravenous cyclophosphamide on days -5 through -3 and 30 mg/kg of intravenous antithymocyte globulin (ATG) on days -3 through -1. Prophylaxis for acute graft versus host disease (GVHD) included continuous infusion of cyclosporine A beginning on day -1, targeting whole blood levels to be 200 to 400 ng/mL, and 1 mg/kg/dose of methylprednisone every 12 hr on days 5 through 19, and then a taper. The degree of human leukocyte antigen (HLA) match confirmed by high resolution DNA typing between the infused CB and the patients was 4/6 for UPN 1 and 5/6 for UPN 2. Infused cell doses of TNC and CD34+ cells for UPN1 and UPN2 were 6.24×10 7 /kg and 5.08×10 7 /kg for TNC, respectively, and 1.33×10 5 /kg and 4.8×10 5 /kg for CD34+ cells, respectively. T-, NK-, and B-cell enumeration and quantitative immunoglobulin studies (for immunoglobulin G, A, M, D, and E) were performed. Cytofluorographic analyses of lymphocyte subpopulations were performed with murine monoclonal antibodies conjugated to either fluorescein (FITC) or phycoerythrin (PE) and then analyzed by flow cytometry (FACScan; Becton Dickinson, San Jose, CA, U.S.A.). Heparinized venous blood samples from patients and family members were fractionated on a Ficoll-Hypaque gradient to isolate PBMCs. For mutational analysis, genomic DNA was extracted from the peripheral lymphocytes, and 12 WASP gene exons were amplified by polymerase chain reaction (PCR) followed by direct sequencing according to the protocol of Sasahara et al. ( 18 ). Hematopoietic reconstitution following CBSCT was uneventful, with an absolute neutrophil count (ANC) of more than 500/µL on days 31 and 13 and a platelet count of more than 20,000/µL on days 58 and 50, for UPN 1 and UPN 2, respectively. Molecular chimerism studies using the VNTR method showed a complete donor cell type for these patients (data not shown). Acute GVHD did not occur, even after the infusion of HLA 1 or 2 antigen mismatched CB. UPN 1 experienced 1 episode of sepsis with B. cepacia during the pre-engraftment period without any complications. UPN 2 experienced fever and respiratory distress with hypoxemia due to pulmonary edema as well as skin rashes on the trunk in the pre-engraftment period (from days 8 to days 10), which mimics engraftment syndrome. He recovered with oxygen supply via endotracheal tube and fluid restriction as well as methylprednisone therapy. Both patients were clinically well without eczematous skin and recurrent infections at 60 months (UPN 1) and 55 months (UPN 2) post CBSCT. Clinical data regarding CBSCT are shown in Table 1 . The elevated total eosinophil counts and serum IgE levels have been normalized since 7 months post-transplantation in both children ( Table 2 ). Other immunologic parameters including IgG, IgA, IgM, IgD and lymphocyte subsets are summarized at Table 2 . To determine whether the genotype was corrected by CBSCT, we analyzed the WASP gene sequence before and after CBSCT in UPN 1. UPN 1 had a single base substitution (C665T) in exon 7 that results in an amino acid change in codon 211 (Arg211stop) before CBSCT. Following CBSCT, UPN1 had a normal sequence at the mutation site in exon 7 of the WASP gene ( Fig. 1 ).'}
|
Laboratory-and-Imaging
|
Lab_Image
|
[
"Flow cytometric analysis of peripheral blood mononuclear cells ( PBMC ) for these 2 patients revealed a defect in WASP",
"the nonsense mutations, Arg211stop and Arg13stop, were confirmed by genomic analysis",
"an absolute neutrophil count ( ANC ) of more than 500/µL on days 31 and 13 and a platelet count of more than 20,000/µL on days 58 and 50, for UPN 1 and UPN 2, respectively",
"The elevated total eosinophil counts and serum IgE levels",
"UPN 1 had a single base substitution ( C665 T ) in exon 7 that results in an amino acid change in codon 211 ( Arg211stop )"
] |
2719213
|
{'CASE REPORT': 'Patient 1 (UPN 1) is a male who was diagnosed with WAS at the age of 5 months. He presented with incidentally detected thrombocytopenia (23,000/µL) with skin eczema and severe, recurrent otitis media and diarrhea on admission. The second male patient (UPN 2) presented with neonatal thrombocytopenia at birth and received intermittent intravenous immunoglobulin (IVIG). Thereafter he experienced skin eczema and recurrent infections such as cellulitis and pneumonia, until he visited our hospital at 3 months old. Flow cytometric analysis of peripheral blood mononuclear cells (PBMC) for these 2 patients revealed a defect in WASP, leading to the diagnosis of WAS. Subsequently, the nonsense mutations, Arg211stop and Arg13stop, were confirmed by genomic analysis ( 17 ). Before transplantation, these patients were treated with monthly infusions of IVIG as well as supportive treatment but there was no clinical improvement. CBSCT was performed in a laminar air flow room with conventional supportive therapy. The pre-transplantation conditioning regimen for the 2 patients was 1 mg/kg of busulfan intravenously every 6 hr on days -9 through -6. This was followed by 50 mg/kg of intravenous cyclophosphamide on days -5 through -3 and 30 mg/kg of intravenous antithymocyte globulin (ATG) on days -3 through -1. Prophylaxis for acute graft versus host disease (GVHD) included continuous infusion of cyclosporine A beginning on day -1, targeting whole blood levels to be 200 to 400 ng/mL, and 1 mg/kg/dose of methylprednisone every 12 hr on days 5 through 19, and then a taper. The degree of human leukocyte antigen (HLA) match confirmed by high resolution DNA typing between the infused CB and the patients was 4/6 for UPN 1 and 5/6 for UPN 2. Infused cell doses of TNC and CD34+ cells for UPN1 and UPN2 were 6.24×10 7 /kg and 5.08×10 7 /kg for TNC, respectively, and 1.33×10 5 /kg and 4.8×10 5 /kg for CD34+ cells, respectively. T-, NK-, and B-cell enumeration and quantitative immunoglobulin studies (for immunoglobulin G, A, M, D, and E) were performed. Cytofluorographic analyses of lymphocyte subpopulations were performed with murine monoclonal antibodies conjugated to either fluorescein (FITC) or phycoerythrin (PE) and then analyzed by flow cytometry (FACScan; Becton Dickinson, San Jose, CA, U.S.A.). Heparinized venous blood samples from patients and family members were fractionated on a Ficoll-Hypaque gradient to isolate PBMCs. For mutational analysis, genomic DNA was extracted from the peripheral lymphocytes, and 12 WASP gene exons were amplified by polymerase chain reaction (PCR) followed by direct sequencing according to the protocol of Sasahara et al. ( 18 ). Hematopoietic reconstitution following CBSCT was uneventful, with an absolute neutrophil count (ANC) of more than 500/µL on days 31 and 13 and a platelet count of more than 20,000/µL on days 58 and 50, for UPN 1 and UPN 2, respectively. Molecular chimerism studies using the VNTR method showed a complete donor cell type for these patients (data not shown). Acute GVHD did not occur, even after the infusion of HLA 1 or 2 antigen mismatched CB. UPN 1 experienced 1 episode of sepsis with B. cepacia during the pre-engraftment period without any complications. UPN 2 experienced fever and respiratory distress with hypoxemia due to pulmonary edema as well as skin rashes on the trunk in the pre-engraftment period (from days 8 to days 10), which mimics engraftment syndrome. He recovered with oxygen supply via endotracheal tube and fluid restriction as well as methylprednisone therapy. Both patients were clinically well without eczematous skin and recurrent infections at 60 months (UPN 1) and 55 months (UPN 2) post CBSCT. Clinical data regarding CBSCT are shown in Table 1 . The elevated total eosinophil counts and serum IgE levels have been normalized since 7 months post-transplantation in both children ( Table 2 ). Other immunologic parameters including IgG, IgA, IgM, IgD and lymphocyte subsets are summarized at Table 2 . To determine whether the genotype was corrected by CBSCT, we analyzed the WASP gene sequence before and after CBSCT in UPN 1. UPN 1 had a single base substitution (C665T) in exon 7 that results in an amino acid change in codon 211 (Arg211stop) before CBSCT. Following CBSCT, UPN1 had a normal sequence at the mutation site in exon 7 of the WASP gene ( Fig. 1 ).'}
|
{'CASE REPORT': 'Patient 1 (UPN 1) is a male who was diagnosed with WAS at the age of 5 months. He presented with incidentally detected thrombocytopenia (23,000/µL) with skin eczema and severe, recurrent otitis media and diarrhea on admission. The second male patient (UPN 2) presented with neonatal thrombocytopenia at birth and received intermittent intravenous immunoglobulin (IVIG). Thereafter he experienced skin eczema and recurrent infections such as cellulitis and pneumonia, until he visited our hospital at 3 months old. Flow cytometric analysis of peripheral blood mononuclear cells (PBMC) for these 2 patients revealed a defect in WASP, leading to the diagnosis of WAS. Subsequently, the nonsense mutations, Arg211stop and Arg13stop, were confirmed by genomic analysis ( 17 ). Before transplantation, these patients were treated with monthly infusions of IVIG as well as supportive treatment but there was no clinical improvement. CBSCT was performed in a laminar air flow room with conventional supportive therapy. The pre-transplantation conditioning regimen for the 2 patients was 1 mg/kg of busulfan intravenously every 6 hr on days -9 through -6. This was followed by 50 mg/kg of intravenous cyclophosphamide on days -5 through -3 and 30 mg/kg of intravenous antithymocyte globulin (ATG) on days -3 through -1. Prophylaxis for acute graft versus host disease (GVHD) included continuous infusion of cyclosporine A beginning on day -1, targeting whole blood levels to be 200 to 400 ng/mL, and 1 mg/kg/dose of methylprednisone every 12 hr on days 5 through 19, and then a taper. The degree of human leukocyte antigen (HLA) match confirmed by high resolution DNA typing between the infused CB and the patients was 4/6 for UPN 1 and 5/6 for UPN 2. Infused cell doses of TNC and CD34+ cells for UPN1 and UPN2 were 6.24×10 7 /kg and 5.08×10 7 /kg for TNC, respectively, and 1.33×10 5 /kg and 4.8×10 5 /kg for CD34+ cells, respectively. T-, NK-, and B-cell enumeration and quantitative immunoglobulin studies (for immunoglobulin G, A, M, D, and E) were performed. Cytofluorographic analyses of lymphocyte subpopulations were performed with murine monoclonal antibodies conjugated to either fluorescein (FITC) or phycoerythrin (PE) and then analyzed by flow cytometry (FACScan; Becton Dickinson, San Jose, CA, U.S.A.). Heparinized venous blood samples from patients and family members were fractionated on a Ficoll-Hypaque gradient to isolate PBMCs. For mutational analysis, genomic DNA was extracted from the peripheral lymphocytes, and 12 WASP gene exons were amplified by polymerase chain reaction (PCR) followed by direct sequencing according to the protocol of Sasahara et al. ( 18 ). Hematopoietic reconstitution following CBSCT was uneventful, with an absolute neutrophil count (ANC) of more than 500/µL on days 31 and 13 and a platelet count of more than 20,000/µL on days 58 and 50, for UPN 1 and UPN 2, respectively. Molecular chimerism studies using the VNTR method showed a complete donor cell type for these patients (data not shown). Acute GVHD did not occur, even after the infusion of HLA 1 or 2 antigen mismatched CB. UPN 1 experienced 1 episode of sepsis with B. cepacia during the pre-engraftment period without any complications. UPN 2 experienced fever and respiratory distress with hypoxemia due to pulmonary edema as well as skin rashes on the trunk in the pre-engraftment period (from days 8 to days 10), which mimics engraftment syndrome. He recovered with oxygen supply via endotracheal tube and fluid restriction as well as methylprednisone therapy. Both patients were clinically well without eczematous skin and recurrent infections at 60 months (UPN 1) and 55 months (UPN 2) post CBSCT. Clinical data regarding CBSCT are shown in Table 1 . The elevated total eosinophil counts and serum IgE levels have been normalized since 7 months post-transplantation in both children ( Table 2 ). Other immunologic parameters including IgG, IgA, IgM, IgD and lymphocyte subsets are summarized at Table 2 . To determine whether the genotype was corrected by CBSCT, we analyzed the WASP gene sequence before and after CBSCT in UPN 1. UPN 1 had a single base substitution (C665T) in exon 7 that results in an amino acid change in codon 211 (Arg211stop) before CBSCT. Following CBSCT, UPN1 had a normal sequence at the mutation site in exon 7 of the WASP gene ( Fig. 1 ).'}
|
Cardiovascular-System
|
CVS
|
[] |
2719213
|
{'CASE REPORT': 'Patient 1 (UPN 1) is a male who was diagnosed with WAS at the age of 5 months. He presented with incidentally detected thrombocytopenia (23,000/µL) with skin eczema and severe, recurrent otitis media and diarrhea on admission. The second male patient (UPN 2) presented with neonatal thrombocytopenia at birth and received intermittent intravenous immunoglobulin (IVIG). Thereafter he experienced skin eczema and recurrent infections such as cellulitis and pneumonia, until he visited our hospital at 3 months old. Flow cytometric analysis of peripheral blood mononuclear cells (PBMC) for these 2 patients revealed a defect in WASP, leading to the diagnosis of WAS. Subsequently, the nonsense mutations, Arg211stop and Arg13stop, were confirmed by genomic analysis ( 17 ). Before transplantation, these patients were treated with monthly infusions of IVIG as well as supportive treatment but there was no clinical improvement. CBSCT was performed in a laminar air flow room with conventional supportive therapy. The pre-transplantation conditioning regimen for the 2 patients was 1 mg/kg of busulfan intravenously every 6 hr on days -9 through -6. This was followed by 50 mg/kg of intravenous cyclophosphamide on days -5 through -3 and 30 mg/kg of intravenous antithymocyte globulin (ATG) on days -3 through -1. Prophylaxis for acute graft versus host disease (GVHD) included continuous infusion of cyclosporine A beginning on day -1, targeting whole blood levels to be 200 to 400 ng/mL, and 1 mg/kg/dose of methylprednisone every 12 hr on days 5 through 19, and then a taper. The degree of human leukocyte antigen (HLA) match confirmed by high resolution DNA typing between the infused CB and the patients was 4/6 for UPN 1 and 5/6 for UPN 2. Infused cell doses of TNC and CD34+ cells for UPN1 and UPN2 were 6.24×10 7 /kg and 5.08×10 7 /kg for TNC, respectively, and 1.33×10 5 /kg and 4.8×10 5 /kg for CD34+ cells, respectively. T-, NK-, and B-cell enumeration and quantitative immunoglobulin studies (for immunoglobulin G, A, M, D, and E) were performed. Cytofluorographic analyses of lymphocyte subpopulations were performed with murine monoclonal antibodies conjugated to either fluorescein (FITC) or phycoerythrin (PE) and then analyzed by flow cytometry (FACScan; Becton Dickinson, San Jose, CA, U.S.A.). Heparinized venous blood samples from patients and family members were fractionated on a Ficoll-Hypaque gradient to isolate PBMCs. For mutational analysis, genomic DNA was extracted from the peripheral lymphocytes, and 12 WASP gene exons were amplified by polymerase chain reaction (PCR) followed by direct sequencing according to the protocol of Sasahara et al. ( 18 ). Hematopoietic reconstitution following CBSCT was uneventful, with an absolute neutrophil count (ANC) of more than 500/µL on days 31 and 13 and a platelet count of more than 20,000/µL on days 58 and 50, for UPN 1 and UPN 2, respectively. Molecular chimerism studies using the VNTR method showed a complete donor cell type for these patients (data not shown). Acute GVHD did not occur, even after the infusion of HLA 1 or 2 antigen mismatched CB. UPN 1 experienced 1 episode of sepsis with B. cepacia during the pre-engraftment period without any complications. UPN 2 experienced fever and respiratory distress with hypoxemia due to pulmonary edema as well as skin rashes on the trunk in the pre-engraftment period (from days 8 to days 10), which mimics engraftment syndrome. He recovered with oxygen supply via endotracheal tube and fluid restriction as well as methylprednisone therapy. Both patients were clinically well without eczematous skin and recurrent infections at 60 months (UPN 1) and 55 months (UPN 2) post CBSCT. Clinical data regarding CBSCT are shown in Table 1 . The elevated total eosinophil counts and serum IgE levels have been normalized since 7 months post-transplantation in both children ( Table 2 ). Other immunologic parameters including IgG, IgA, IgM, IgD and lymphocyte subsets are summarized at Table 2 . To determine whether the genotype was corrected by CBSCT, we analyzed the WASP gene sequence before and after CBSCT in UPN 1. UPN 1 had a single base substitution (C665T) in exon 7 that results in an amino acid change in codon 211 (Arg211stop) before CBSCT. Following CBSCT, UPN1 had a normal sequence at the mutation site in exon 7 of the WASP gene ( Fig. 1 ).'}
|
{'CASE REPORT': 'Patient 1 (UPN 1) is a male who was diagnosed with WAS at the age of 5 months. He presented with incidentally detected thrombocytopenia (23,000/µL) with skin eczema and severe, recurrent otitis media and diarrhea on admission. The second male patient (UPN 2) presented with neonatal thrombocytopenia at birth and received intermittent intravenous immunoglobulin (IVIG). Thereafter he experienced skin eczema and recurrent infections such as cellulitis and pneumonia, until he visited our hospital at 3 months old. Flow cytometric analysis of peripheral blood mononuclear cells (PBMC) for these 2 patients revealed a defect in WASP, leading to the diagnosis of WAS. Subsequently, the nonsense mutations, Arg211stop and Arg13stop, were confirmed by genomic analysis ( 17 ). Before transplantation, these patients were treated with monthly infusions of IVIG as well as supportive treatment but there was no clinical improvement. CBSCT was performed in a laminar air flow room with conventional supportive therapy. The pre-transplantation conditioning regimen for the 2 patients was 1 mg/kg of busulfan intravenously every 6 hr on days -9 through -6. This was followed by 50 mg/kg of intravenous cyclophosphamide on days -5 through -3 and 30 mg/kg of intravenous antithymocyte globulin (ATG) on days -3 through -1. Prophylaxis for acute graft versus host disease (GVHD) included continuous infusion of cyclosporine A beginning on day -1, targeting whole blood levels to be 200 to 400 ng/mL, and 1 mg/kg/dose of methylprednisone every 12 hr on days 5 through 19, and then a taper. The degree of human leukocyte antigen (HLA) match confirmed by high resolution DNA typing between the infused CB and the patients was 4/6 for UPN 1 and 5/6 for UPN 2. Infused cell doses of TNC and CD34+ cells for UPN1 and UPN2 were 6.24×10 7 /kg and 5.08×10 7 /kg for TNC, respectively, and 1.33×10 5 /kg and 4.8×10 5 /kg for CD34+ cells, respectively. T-, NK-, and B-cell enumeration and quantitative immunoglobulin studies (for immunoglobulin G, A, M, D, and E) were performed. Cytofluorographic analyses of lymphocyte subpopulations were performed with murine monoclonal antibodies conjugated to either fluorescein (FITC) or phycoerythrin (PE) and then analyzed by flow cytometry (FACScan; Becton Dickinson, San Jose, CA, U.S.A.). Heparinized venous blood samples from patients and family members were fractionated on a Ficoll-Hypaque gradient to isolate PBMCs. For mutational analysis, genomic DNA was extracted from the peripheral lymphocytes, and 12 WASP gene exons were amplified by polymerase chain reaction (PCR) followed by direct sequencing according to the protocol of Sasahara et al. ( 18 ). Hematopoietic reconstitution following CBSCT was uneventful, with an absolute neutrophil count (ANC) of more than 500/µL on days 31 and 13 and a platelet count of more than 20,000/µL on days 58 and 50, for UPN 1 and UPN 2, respectively. Molecular chimerism studies using the VNTR method showed a complete donor cell type for these patients (data not shown). Acute GVHD did not occur, even after the infusion of HLA 1 or 2 antigen mismatched CB. UPN 1 experienced 1 episode of sepsis with B. cepacia during the pre-engraftment period without any complications. UPN 2 experienced fever and respiratory distress with hypoxemia due to pulmonary edema as well as skin rashes on the trunk in the pre-engraftment period (from days 8 to days 10), which mimics engraftment syndrome. He recovered with oxygen supply via endotracheal tube and fluid restriction as well as methylprednisone therapy. Both patients were clinically well without eczematous skin and recurrent infections at 60 months (UPN 1) and 55 months (UPN 2) post CBSCT. Clinical data regarding CBSCT are shown in Table 1 . The elevated total eosinophil counts and serum IgE levels have been normalized since 7 months post-transplantation in both children ( Table 2 ). Other immunologic parameters including IgG, IgA, IgM, IgD and lymphocyte subsets are summarized at Table 2 . To determine whether the genotype was corrected by CBSCT, we analyzed the WASP gene sequence before and after CBSCT in UPN 1. UPN 1 had a single base substitution (C665T) in exon 7 that results in an amino acid change in codon 211 (Arg211stop) before CBSCT. Following CBSCT, UPN1 had a normal sequence at the mutation site in exon 7 of the WASP gene ( Fig. 1 ).'}
|
Endocrinology
|
ENDO
|
[] |
2719213
|
{'CASE REPORT': 'Patient 1 (UPN 1) is a male who was diagnosed with WAS at the age of 5 months. He presented with incidentally detected thrombocytopenia (23,000/µL) with skin eczema and severe, recurrent otitis media and diarrhea on admission. The second male patient (UPN 2) presented with neonatal thrombocytopenia at birth and received intermittent intravenous immunoglobulin (IVIG). Thereafter he experienced skin eczema and recurrent infections such as cellulitis and pneumonia, until he visited our hospital at 3 months old. Flow cytometric analysis of peripheral blood mononuclear cells (PBMC) for these 2 patients revealed a defect in WASP, leading to the diagnosis of WAS. Subsequently, the nonsense mutations, Arg211stop and Arg13stop, were confirmed by genomic analysis ( 17 ). Before transplantation, these patients were treated with monthly infusions of IVIG as well as supportive treatment but there was no clinical improvement. CBSCT was performed in a laminar air flow room with conventional supportive therapy. The pre-transplantation conditioning regimen for the 2 patients was 1 mg/kg of busulfan intravenously every 6 hr on days -9 through -6. This was followed by 50 mg/kg of intravenous cyclophosphamide on days -5 through -3 and 30 mg/kg of intravenous antithymocyte globulin (ATG) on days -3 through -1. Prophylaxis for acute graft versus host disease (GVHD) included continuous infusion of cyclosporine A beginning on day -1, targeting whole blood levels to be 200 to 400 ng/mL, and 1 mg/kg/dose of methylprednisone every 12 hr on days 5 through 19, and then a taper. The degree of human leukocyte antigen (HLA) match confirmed by high resolution DNA typing between the infused CB and the patients was 4/6 for UPN 1 and 5/6 for UPN 2. Infused cell doses of TNC and CD34+ cells for UPN1 and UPN2 were 6.24×10 7 /kg and 5.08×10 7 /kg for TNC, respectively, and 1.33×10 5 /kg and 4.8×10 5 /kg for CD34+ cells, respectively. T-, NK-, and B-cell enumeration and quantitative immunoglobulin studies (for immunoglobulin G, A, M, D, and E) were performed. Cytofluorographic analyses of lymphocyte subpopulations were performed with murine monoclonal antibodies conjugated to either fluorescein (FITC) or phycoerythrin (PE) and then analyzed by flow cytometry (FACScan; Becton Dickinson, San Jose, CA, U.S.A.). Heparinized venous blood samples from patients and family members were fractionated on a Ficoll-Hypaque gradient to isolate PBMCs. For mutational analysis, genomic DNA was extracted from the peripheral lymphocytes, and 12 WASP gene exons were amplified by polymerase chain reaction (PCR) followed by direct sequencing according to the protocol of Sasahara et al. ( 18 ). Hematopoietic reconstitution following CBSCT was uneventful, with an absolute neutrophil count (ANC) of more than 500/µL on days 31 and 13 and a platelet count of more than 20,000/µL on days 58 and 50, for UPN 1 and UPN 2, respectively. Molecular chimerism studies using the VNTR method showed a complete donor cell type for these patients (data not shown). Acute GVHD did not occur, even after the infusion of HLA 1 or 2 antigen mismatched CB. UPN 1 experienced 1 episode of sepsis with B. cepacia during the pre-engraftment period without any complications. UPN 2 experienced fever and respiratory distress with hypoxemia due to pulmonary edema as well as skin rashes on the trunk in the pre-engraftment period (from days 8 to days 10), which mimics engraftment syndrome. He recovered with oxygen supply via endotracheal tube and fluid restriction as well as methylprednisone therapy. Both patients were clinically well without eczematous skin and recurrent infections at 60 months (UPN 1) and 55 months (UPN 2) post CBSCT. Clinical data regarding CBSCT are shown in Table 1 . The elevated total eosinophil counts and serum IgE levels have been normalized since 7 months post-transplantation in both children ( Table 2 ). Other immunologic parameters including IgG, IgA, IgM, IgD and lymphocyte subsets are summarized at Table 2 . To determine whether the genotype was corrected by CBSCT, we analyzed the WASP gene sequence before and after CBSCT in UPN 1. UPN 1 had a single base substitution (C665T) in exon 7 that results in an amino acid change in codon 211 (Arg211stop) before CBSCT. Following CBSCT, UPN1 had a normal sequence at the mutation site in exon 7 of the WASP gene ( Fig. 1 ).'}
|
{'CASE REPORT': 'Patient 1 (UPN 1) is a male who was diagnosed with WAS at the age of 5 months. He presented with incidentally detected thrombocytopenia (23,000/µL) with skin eczema and severe, recurrent otitis media and diarrhea on admission. The second male patient (UPN 2) presented with neonatal thrombocytopenia at birth and received intermittent intravenous immunoglobulin (IVIG). Thereafter he experienced skin eczema and recurrent infections such as cellulitis and pneumonia, until he visited our hospital at 3 months old. Flow cytometric analysis of peripheral blood mononuclear cells (PBMC) for these 2 patients revealed a defect in WASP, leading to the diagnosis of WAS. Subsequently, the nonsense mutations, Arg211stop and Arg13stop, were confirmed by genomic analysis ( 17 ). Before transplantation, these patients were treated with monthly infusions of IVIG as well as supportive treatment but there was no clinical improvement. CBSCT was performed in a laminar air flow room with conventional supportive therapy. The pre-transplantation conditioning regimen for the 2 patients was 1 mg/kg of busulfan intravenously every 6 hr on days -9 through -6. This was followed by 50 mg/kg of intravenous cyclophosphamide on days -5 through -3 and 30 mg/kg of intravenous antithymocyte globulin (ATG) on days -3 through -1. Prophylaxis for acute graft versus host disease (GVHD) included continuous infusion of cyclosporine A beginning on day -1, targeting whole blood levels to be 200 to 400 ng/mL, and 1 mg/kg/dose of methylprednisone every 12 hr on days 5 through 19, and then a taper. The degree of human leukocyte antigen (HLA) match confirmed by high resolution DNA typing between the infused CB and the patients was 4/6 for UPN 1 and 5/6 for UPN 2. Infused cell doses of TNC and CD34+ cells for UPN1 and UPN2 were 6.24×10 7 /kg and 5.08×10 7 /kg for TNC, respectively, and 1.33×10 5 /kg and 4.8×10 5 /kg for CD34+ cells, respectively. T-, NK-, and B-cell enumeration and quantitative immunoglobulin studies (for immunoglobulin G, A, M, D, and E) were performed. Cytofluorographic analyses of lymphocyte subpopulations were performed with murine monoclonal antibodies conjugated to either fluorescein (FITC) or phycoerythrin (PE) and then analyzed by flow cytometry (FACScan; Becton Dickinson, San Jose, CA, U.S.A.). Heparinized venous blood samples from patients and family members were fractionated on a Ficoll-Hypaque gradient to isolate PBMCs. For mutational analysis, genomic DNA was extracted from the peripheral lymphocytes, and 12 WASP gene exons were amplified by polymerase chain reaction (PCR) followed by direct sequencing according to the protocol of Sasahara et al. ( 18 ). Hematopoietic reconstitution following CBSCT was uneventful, with an absolute neutrophil count (ANC) of more than 500/µL on days 31 and 13 and a platelet count of more than 20,000/µL on days 58 and 50, for UPN 1 and UPN 2, respectively. Molecular chimerism studies using the VNTR method showed a complete donor cell type for these patients (data not shown). Acute GVHD did not occur, even after the infusion of HLA 1 or 2 antigen mismatched CB. UPN 1 experienced 1 episode of sepsis with B. cepacia during the pre-engraftment period without any complications. UPN 2 experienced fever and respiratory distress with hypoxemia due to pulmonary edema as well as skin rashes on the trunk in the pre-engraftment period (from days 8 to days 10), which mimics engraftment syndrome. He recovered with oxygen supply via endotracheal tube and fluid restriction as well as methylprednisone therapy. Both patients were clinically well without eczematous skin and recurrent infections at 60 months (UPN 1) and 55 months (UPN 2) post CBSCT. Clinical data regarding CBSCT are shown in Table 1 . The elevated total eosinophil counts and serum IgE levels have been normalized since 7 months post-transplantation in both children ( Table 2 ). Other immunologic parameters including IgG, IgA, IgM, IgD and lymphocyte subsets are summarized at Table 2 . To determine whether the genotype was corrected by CBSCT, we analyzed the WASP gene sequence before and after CBSCT in UPN 1. UPN 1 had a single base substitution (C665T) in exon 7 that results in an amino acid change in codon 211 (Arg211stop) before CBSCT. Following CBSCT, UPN1 had a normal sequence at the mutation site in exon 7 of the WASP gene ( Fig. 1 ).'}
|
Genitourinary-System
|
GU
|
[] |
2719213
|
{'CASE REPORT': 'Patient 1 (UPN 1) is a male who was diagnosed with WAS at the age of 5 months. He presented with incidentally detected thrombocytopenia (23,000/µL) with skin eczema and severe, recurrent otitis media and diarrhea on admission. The second male patient (UPN 2) presented with neonatal thrombocytopenia at birth and received intermittent intravenous immunoglobulin (IVIG). Thereafter he experienced skin eczema and recurrent infections such as cellulitis and pneumonia, until he visited our hospital at 3 months old. Flow cytometric analysis of peripheral blood mononuclear cells (PBMC) for these 2 patients revealed a defect in WASP, leading to the diagnosis of WAS. Subsequently, the nonsense mutations, Arg211stop and Arg13stop, were confirmed by genomic analysis ( 17 ). Before transplantation, these patients were treated with monthly infusions of IVIG as well as supportive treatment but there was no clinical improvement. CBSCT was performed in a laminar air flow room with conventional supportive therapy. The pre-transplantation conditioning regimen for the 2 patients was 1 mg/kg of busulfan intravenously every 6 hr on days -9 through -6. This was followed by 50 mg/kg of intravenous cyclophosphamide on days -5 through -3 and 30 mg/kg of intravenous antithymocyte globulin (ATG) on days -3 through -1. Prophylaxis for acute graft versus host disease (GVHD) included continuous infusion of cyclosporine A beginning on day -1, targeting whole blood levels to be 200 to 400 ng/mL, and 1 mg/kg/dose of methylprednisone every 12 hr on days 5 through 19, and then a taper. The degree of human leukocyte antigen (HLA) match confirmed by high resolution DNA typing between the infused CB and the patients was 4/6 for UPN 1 and 5/6 for UPN 2. Infused cell doses of TNC and CD34+ cells for UPN1 and UPN2 were 6.24×10 7 /kg and 5.08×10 7 /kg for TNC, respectively, and 1.33×10 5 /kg and 4.8×10 5 /kg for CD34+ cells, respectively. T-, NK-, and B-cell enumeration and quantitative immunoglobulin studies (for immunoglobulin G, A, M, D, and E) were performed. Cytofluorographic analyses of lymphocyte subpopulations were performed with murine monoclonal antibodies conjugated to either fluorescein (FITC) or phycoerythrin (PE) and then analyzed by flow cytometry (FACScan; Becton Dickinson, San Jose, CA, U.S.A.). Heparinized venous blood samples from patients and family members were fractionated on a Ficoll-Hypaque gradient to isolate PBMCs. For mutational analysis, genomic DNA was extracted from the peripheral lymphocytes, and 12 WASP gene exons were amplified by polymerase chain reaction (PCR) followed by direct sequencing according to the protocol of Sasahara et al. ( 18 ). Hematopoietic reconstitution following CBSCT was uneventful, with an absolute neutrophil count (ANC) of more than 500/µL on days 31 and 13 and a platelet count of more than 20,000/µL on days 58 and 50, for UPN 1 and UPN 2, respectively. Molecular chimerism studies using the VNTR method showed a complete donor cell type for these patients (data not shown). Acute GVHD did not occur, even after the infusion of HLA 1 or 2 antigen mismatched CB. UPN 1 experienced 1 episode of sepsis with B. cepacia during the pre-engraftment period without any complications. UPN 2 experienced fever and respiratory distress with hypoxemia due to pulmonary edema as well as skin rashes on the trunk in the pre-engraftment period (from days 8 to days 10), which mimics engraftment syndrome. He recovered with oxygen supply via endotracheal tube and fluid restriction as well as methylprednisone therapy. Both patients were clinically well without eczematous skin and recurrent infections at 60 months (UPN 1) and 55 months (UPN 2) post CBSCT. Clinical data regarding CBSCT are shown in Table 1 . The elevated total eosinophil counts and serum IgE levels have been normalized since 7 months post-transplantation in both children ( Table 2 ). Other immunologic parameters including IgG, IgA, IgM, IgD and lymphocyte subsets are summarized at Table 2 . To determine whether the genotype was corrected by CBSCT, we analyzed the WASP gene sequence before and after CBSCT in UPN 1. UPN 1 had a single base substitution (C665T) in exon 7 that results in an amino acid change in codon 211 (Arg211stop) before CBSCT. Following CBSCT, UPN1 had a normal sequence at the mutation site in exon 7 of the WASP gene ( Fig. 1 ).'}
|
{'CASE REPORT': 'Patient 1 (UPN 1) is a male who was diagnosed with WAS at the age of 5 months. He presented with incidentally detected thrombocytopenia (23,000/µL) with skin eczema and severe, recurrent otitis media and diarrhea on admission. The second male patient (UPN 2) presented with neonatal thrombocytopenia at birth and received intermittent intravenous immunoglobulin (IVIG). Thereafter he experienced skin eczema and recurrent infections such as cellulitis and pneumonia, until he visited our hospital at 3 months old. Flow cytometric analysis of peripheral blood mononuclear cells (PBMC) for these 2 patients revealed a defect in WASP, leading to the diagnosis of WAS. Subsequently, the nonsense mutations, Arg211stop and Arg13stop, were confirmed by genomic analysis ( 17 ). Before transplantation, these patients were treated with monthly infusions of IVIG as well as supportive treatment but there was no clinical improvement. CBSCT was performed in a laminar air flow room with conventional supportive therapy. The pre-transplantation conditioning regimen for the 2 patients was 1 mg/kg of busulfan intravenously every 6 hr on days -9 through -6. This was followed by 50 mg/kg of intravenous cyclophosphamide on days -5 through -3 and 30 mg/kg of intravenous antithymocyte globulin (ATG) on days -3 through -1. Prophylaxis for acute graft versus host disease (GVHD) included continuous infusion of cyclosporine A beginning on day -1, targeting whole blood levels to be 200 to 400 ng/mL, and 1 mg/kg/dose of methylprednisone every 12 hr on days 5 through 19, and then a taper. The degree of human leukocyte antigen (HLA) match confirmed by high resolution DNA typing between the infused CB and the patients was 4/6 for UPN 1 and 5/6 for UPN 2. Infused cell doses of TNC and CD34+ cells for UPN1 and UPN2 were 6.24×10 7 /kg and 5.08×10 7 /kg for TNC, respectively, and 1.33×10 5 /kg and 4.8×10 5 /kg for CD34+ cells, respectively. T-, NK-, and B-cell enumeration and quantitative immunoglobulin studies (for immunoglobulin G, A, M, D, and E) were performed. Cytofluorographic analyses of lymphocyte subpopulations were performed with murine monoclonal antibodies conjugated to either fluorescein (FITC) or phycoerythrin (PE) and then analyzed by flow cytometry (FACScan; Becton Dickinson, San Jose, CA, U.S.A.). Heparinized venous blood samples from patients and family members were fractionated on a Ficoll-Hypaque gradient to isolate PBMCs. For mutational analysis, genomic DNA was extracted from the peripheral lymphocytes, and 12 WASP gene exons were amplified by polymerase chain reaction (PCR) followed by direct sequencing according to the protocol of Sasahara et al. ( 18 ). Hematopoietic reconstitution following CBSCT was uneventful, with an absolute neutrophil count (ANC) of more than 500/µL on days 31 and 13 and a platelet count of more than 20,000/µL on days 58 and 50, for UPN 1 and UPN 2, respectively. Molecular chimerism studies using the VNTR method showed a complete donor cell type for these patients (data not shown). Acute GVHD did not occur, even after the infusion of HLA 1 or 2 antigen mismatched CB. UPN 1 experienced 1 episode of sepsis with B. cepacia during the pre-engraftment period without any complications. UPN 2 experienced fever and respiratory distress with hypoxemia due to pulmonary edema as well as skin rashes on the trunk in the pre-engraftment period (from days 8 to days 10), which mimics engraftment syndrome. He recovered with oxygen supply via endotracheal tube and fluid restriction as well as methylprednisone therapy. Both patients were clinically well without eczematous skin and recurrent infections at 60 months (UPN 1) and 55 months (UPN 2) post CBSCT. Clinical data regarding CBSCT are shown in Table 1 . The elevated total eosinophil counts and serum IgE levels have been normalized since 7 months post-transplantation in both children ( Table 2 ). Other immunologic parameters including IgG, IgA, IgM, IgD and lymphocyte subsets are summarized at Table 2 . To determine whether the genotype was corrected by CBSCT, we analyzed the WASP gene sequence before and after CBSCT in UPN 1. UPN 1 had a single base substitution (C665T) in exon 7 that results in an amino acid change in codon 211 (Arg211stop) before CBSCT. Following CBSCT, UPN1 had a normal sequence at the mutation site in exon 7 of the WASP gene ( Fig. 1 ).'}
|
Respiratory-System
|
RESP
|
[
"respiratory distress with hypoxemia due to pulmonary edema"
] |
2719213
|
{'CASE REPORT': 'Patient 1 (UPN 1) is a male who was diagnosed with WAS at the age of 5 months. He presented with incidentally detected thrombocytopenia (23,000/µL) with skin eczema and severe, recurrent otitis media and diarrhea on admission. The second male patient (UPN 2) presented with neonatal thrombocytopenia at birth and received intermittent intravenous immunoglobulin (IVIG). Thereafter he experienced skin eczema and recurrent infections such as cellulitis and pneumonia, until he visited our hospital at 3 months old. Flow cytometric analysis of peripheral blood mononuclear cells (PBMC) for these 2 patients revealed a defect in WASP, leading to the diagnosis of WAS. Subsequently, the nonsense mutations, Arg211stop and Arg13stop, were confirmed by genomic analysis ( 17 ). Before transplantation, these patients were treated with monthly infusions of IVIG as well as supportive treatment but there was no clinical improvement. CBSCT was performed in a laminar air flow room with conventional supportive therapy. The pre-transplantation conditioning regimen for the 2 patients was 1 mg/kg of busulfan intravenously every 6 hr on days -9 through -6. This was followed by 50 mg/kg of intravenous cyclophosphamide on days -5 through -3 and 30 mg/kg of intravenous antithymocyte globulin (ATG) on days -3 through -1. Prophylaxis for acute graft versus host disease (GVHD) included continuous infusion of cyclosporine A beginning on day -1, targeting whole blood levels to be 200 to 400 ng/mL, and 1 mg/kg/dose of methylprednisone every 12 hr on days 5 through 19, and then a taper. The degree of human leukocyte antigen (HLA) match confirmed by high resolution DNA typing between the infused CB and the patients was 4/6 for UPN 1 and 5/6 for UPN 2. Infused cell doses of TNC and CD34+ cells for UPN1 and UPN2 were 6.24×10 7 /kg and 5.08×10 7 /kg for TNC, respectively, and 1.33×10 5 /kg and 4.8×10 5 /kg for CD34+ cells, respectively. T-, NK-, and B-cell enumeration and quantitative immunoglobulin studies (for immunoglobulin G, A, M, D, and E) were performed. Cytofluorographic analyses of lymphocyte subpopulations were performed with murine monoclonal antibodies conjugated to either fluorescein (FITC) or phycoerythrin (PE) and then analyzed by flow cytometry (FACScan; Becton Dickinson, San Jose, CA, U.S.A.). Heparinized venous blood samples from patients and family members were fractionated on a Ficoll-Hypaque gradient to isolate PBMCs. For mutational analysis, genomic DNA was extracted from the peripheral lymphocytes, and 12 WASP gene exons were amplified by polymerase chain reaction (PCR) followed by direct sequencing according to the protocol of Sasahara et al. ( 18 ). Hematopoietic reconstitution following CBSCT was uneventful, with an absolute neutrophil count (ANC) of more than 500/µL on days 31 and 13 and a platelet count of more than 20,000/µL on days 58 and 50, for UPN 1 and UPN 2, respectively. Molecular chimerism studies using the VNTR method showed a complete donor cell type for these patients (data not shown). Acute GVHD did not occur, even after the infusion of HLA 1 or 2 antigen mismatched CB. UPN 1 experienced 1 episode of sepsis with B. cepacia during the pre-engraftment period without any complications. UPN 2 experienced fever and respiratory distress with hypoxemia due to pulmonary edema as well as skin rashes on the trunk in the pre-engraftment period (from days 8 to days 10), which mimics engraftment syndrome. He recovered with oxygen supply via endotracheal tube and fluid restriction as well as methylprednisone therapy. Both patients were clinically well without eczematous skin and recurrent infections at 60 months (UPN 1) and 55 months (UPN 2) post CBSCT. Clinical data regarding CBSCT are shown in Table 1 . The elevated total eosinophil counts and serum IgE levels have been normalized since 7 months post-transplantation in both children ( Table 2 ). Other immunologic parameters including IgG, IgA, IgM, IgD and lymphocyte subsets are summarized at Table 2 . To determine whether the genotype was corrected by CBSCT, we analyzed the WASP gene sequence before and after CBSCT in UPN 1. UPN 1 had a single base substitution (C665T) in exon 7 that results in an amino acid change in codon 211 (Arg211stop) before CBSCT. Following CBSCT, UPN1 had a normal sequence at the mutation site in exon 7 of the WASP gene ( Fig. 1 ).'}
|
{'CASE REPORT': 'Patient 1 (UPN 1) is a male who was diagnosed with WAS at the age of 5 months. He presented with incidentally detected thrombocytopenia (23,000/µL) with skin eczema and severe, recurrent otitis media and diarrhea on admission. The second male patient (UPN 2) presented with neonatal thrombocytopenia at birth and received intermittent intravenous immunoglobulin (IVIG). Thereafter he experienced skin eczema and recurrent infections such as cellulitis and pneumonia, until he visited our hospital at 3 months old. Flow cytometric analysis of peripheral blood mononuclear cells (PBMC) for these 2 patients revealed a defect in WASP, leading to the diagnosis of WAS. Subsequently, the nonsense mutations, Arg211stop and Arg13stop, were confirmed by genomic analysis ( 17 ). Before transplantation, these patients were treated with monthly infusions of IVIG as well as supportive treatment but there was no clinical improvement. CBSCT was performed in a laminar air flow room with conventional supportive therapy. The pre-transplantation conditioning regimen for the 2 patients was 1 mg/kg of busulfan intravenously every 6 hr on days -9 through -6. This was followed by 50 mg/kg of intravenous cyclophosphamide on days -5 through -3 and 30 mg/kg of intravenous antithymocyte globulin (ATG) on days -3 through -1. Prophylaxis for acute graft versus host disease (GVHD) included continuous infusion of cyclosporine A beginning on day -1, targeting whole blood levels to be 200 to 400 ng/mL, and 1 mg/kg/dose of methylprednisone every 12 hr on days 5 through 19, and then a taper. The degree of human leukocyte antigen (HLA) match confirmed by high resolution DNA typing between the infused CB and the patients was 4/6 for UPN 1 and 5/6 for UPN 2. Infused cell doses of TNC and CD34+ cells for UPN1 and UPN2 were 6.24×10 7 /kg and 5.08×10 7 /kg for TNC, respectively, and 1.33×10 5 /kg and 4.8×10 5 /kg for CD34+ cells, respectively. T-, NK-, and B-cell enumeration and quantitative immunoglobulin studies (for immunoglobulin G, A, M, D, and E) were performed. Cytofluorographic analyses of lymphocyte subpopulations were performed with murine monoclonal antibodies conjugated to either fluorescein (FITC) or phycoerythrin (PE) and then analyzed by flow cytometry (FACScan; Becton Dickinson, San Jose, CA, U.S.A.). Heparinized venous blood samples from patients and family members were fractionated on a Ficoll-Hypaque gradient to isolate PBMCs. For mutational analysis, genomic DNA was extracted from the peripheral lymphocytes, and 12 WASP gene exons were amplified by polymerase chain reaction (PCR) followed by direct sequencing according to the protocol of Sasahara et al. ( 18 ). Hematopoietic reconstitution following CBSCT was uneventful, with an absolute neutrophil count (ANC) of more than 500/µL on days 31 and 13 and a platelet count of more than 20,000/µL on days 58 and 50, for UPN 1 and UPN 2, respectively. Molecular chimerism studies using the VNTR method showed a complete donor cell type for these patients (data not shown). Acute GVHD did not occur, even after the infusion of HLA 1 or 2 antigen mismatched CB. UPN 1 experienced 1 episode of sepsis with B. cepacia during the pre-engraftment period without any complications. UPN 2 experienced fever and respiratory distress with hypoxemia due to pulmonary edema as well as skin rashes on the trunk in the pre-engraftment period (from days 8 to days 10), which mimics engraftment syndrome. He recovered with oxygen supply via endotracheal tube and fluid restriction as well as methylprednisone therapy. Both patients were clinically well without eczematous skin and recurrent infections at 60 months (UPN 1) and 55 months (UPN 2) post CBSCT. Clinical data regarding CBSCT are shown in Table 1 . The elevated total eosinophil counts and serum IgE levels have been normalized since 7 months post-transplantation in both children ( Table 2 ). Other immunologic parameters including IgG, IgA, IgM, IgD and lymphocyte subsets are summarized at Table 2 . To determine whether the genotype was corrected by CBSCT, we analyzed the WASP gene sequence before and after CBSCT in UPN 1. UPN 1 had a single base substitution (C665T) in exon 7 that results in an amino acid change in codon 211 (Arg211stop) before CBSCT. Following CBSCT, UPN1 had a normal sequence at the mutation site in exon 7 of the WASP gene ( Fig. 1 ).'}
|
Musculoskeletal-System
|
MSK
|
[] |
2719213
|
{'CASE REPORT': 'Patient 1 (UPN 1) is a male who was diagnosed with WAS at the age of 5 months. He presented with incidentally detected thrombocytopenia (23,000/µL) with skin eczema and severe, recurrent otitis media and diarrhea on admission. The second male patient (UPN 2) presented with neonatal thrombocytopenia at birth and received intermittent intravenous immunoglobulin (IVIG). Thereafter he experienced skin eczema and recurrent infections such as cellulitis and pneumonia, until he visited our hospital at 3 months old. Flow cytometric analysis of peripheral blood mononuclear cells (PBMC) for these 2 patients revealed a defect in WASP, leading to the diagnosis of WAS. Subsequently, the nonsense mutations, Arg211stop and Arg13stop, were confirmed by genomic analysis ( 17 ). Before transplantation, these patients were treated with monthly infusions of IVIG as well as supportive treatment but there was no clinical improvement. CBSCT was performed in a laminar air flow room with conventional supportive therapy. The pre-transplantation conditioning regimen for the 2 patients was 1 mg/kg of busulfan intravenously every 6 hr on days -9 through -6. This was followed by 50 mg/kg of intravenous cyclophosphamide on days -5 through -3 and 30 mg/kg of intravenous antithymocyte globulin (ATG) on days -3 through -1. Prophylaxis for acute graft versus host disease (GVHD) included continuous infusion of cyclosporine A beginning on day -1, targeting whole blood levels to be 200 to 400 ng/mL, and 1 mg/kg/dose of methylprednisone every 12 hr on days 5 through 19, and then a taper. The degree of human leukocyte antigen (HLA) match confirmed by high resolution DNA typing between the infused CB and the patients was 4/6 for UPN 1 and 5/6 for UPN 2. Infused cell doses of TNC and CD34+ cells for UPN1 and UPN2 were 6.24×10 7 /kg and 5.08×10 7 /kg for TNC, respectively, and 1.33×10 5 /kg and 4.8×10 5 /kg for CD34+ cells, respectively. T-, NK-, and B-cell enumeration and quantitative immunoglobulin studies (for immunoglobulin G, A, M, D, and E) were performed. Cytofluorographic analyses of lymphocyte subpopulations were performed with murine monoclonal antibodies conjugated to either fluorescein (FITC) or phycoerythrin (PE) and then analyzed by flow cytometry (FACScan; Becton Dickinson, San Jose, CA, U.S.A.). Heparinized venous blood samples from patients and family members were fractionated on a Ficoll-Hypaque gradient to isolate PBMCs. For mutational analysis, genomic DNA was extracted from the peripheral lymphocytes, and 12 WASP gene exons were amplified by polymerase chain reaction (PCR) followed by direct sequencing according to the protocol of Sasahara et al. ( 18 ). Hematopoietic reconstitution following CBSCT was uneventful, with an absolute neutrophil count (ANC) of more than 500/µL on days 31 and 13 and a platelet count of more than 20,000/µL on days 58 and 50, for UPN 1 and UPN 2, respectively. Molecular chimerism studies using the VNTR method showed a complete donor cell type for these patients (data not shown). Acute GVHD did not occur, even after the infusion of HLA 1 or 2 antigen mismatched CB. UPN 1 experienced 1 episode of sepsis with B. cepacia during the pre-engraftment period without any complications. UPN 2 experienced fever and respiratory distress with hypoxemia due to pulmonary edema as well as skin rashes on the trunk in the pre-engraftment period (from days 8 to days 10), which mimics engraftment syndrome. He recovered with oxygen supply via endotracheal tube and fluid restriction as well as methylprednisone therapy. Both patients were clinically well without eczematous skin and recurrent infections at 60 months (UPN 1) and 55 months (UPN 2) post CBSCT. Clinical data regarding CBSCT are shown in Table 1 . The elevated total eosinophil counts and serum IgE levels have been normalized since 7 months post-transplantation in both children ( Table 2 ). Other immunologic parameters including IgG, IgA, IgM, IgD and lymphocyte subsets are summarized at Table 2 . To determine whether the genotype was corrected by CBSCT, we analyzed the WASP gene sequence before and after CBSCT in UPN 1. UPN 1 had a single base substitution (C665T) in exon 7 that results in an amino acid change in codon 211 (Arg211stop) before CBSCT. Following CBSCT, UPN1 had a normal sequence at the mutation site in exon 7 of the WASP gene ( Fig. 1 ).'}
|
{'CASE REPORT': 'Patient 1 (UPN 1) is a male who was diagnosed with WAS at the age of 5 months. He presented with incidentally detected thrombocytopenia (23,000/µL) with skin eczema and severe, recurrent otitis media and diarrhea on admission. The second male patient (UPN 2) presented with neonatal thrombocytopenia at birth and received intermittent intravenous immunoglobulin (IVIG). Thereafter he experienced skin eczema and recurrent infections such as cellulitis and pneumonia, until he visited our hospital at 3 months old. Flow cytometric analysis of peripheral blood mononuclear cells (PBMC) for these 2 patients revealed a defect in WASP, leading to the diagnosis of WAS. Subsequently, the nonsense mutations, Arg211stop and Arg13stop, were confirmed by genomic analysis ( 17 ). Before transplantation, these patients were treated with monthly infusions of IVIG as well as supportive treatment but there was no clinical improvement. CBSCT was performed in a laminar air flow room with conventional supportive therapy. The pre-transplantation conditioning regimen for the 2 patients was 1 mg/kg of busulfan intravenously every 6 hr on days -9 through -6. This was followed by 50 mg/kg of intravenous cyclophosphamide on days -5 through -3 and 30 mg/kg of intravenous antithymocyte globulin (ATG) on days -3 through -1. Prophylaxis for acute graft versus host disease (GVHD) included continuous infusion of cyclosporine A beginning on day -1, targeting whole blood levels to be 200 to 400 ng/mL, and 1 mg/kg/dose of methylprednisone every 12 hr on days 5 through 19, and then a taper. The degree of human leukocyte antigen (HLA) match confirmed by high resolution DNA typing between the infused CB and the patients was 4/6 for UPN 1 and 5/6 for UPN 2. Infused cell doses of TNC and CD34+ cells for UPN1 and UPN2 were 6.24×10 7 /kg and 5.08×10 7 /kg for TNC, respectively, and 1.33×10 5 /kg and 4.8×10 5 /kg for CD34+ cells, respectively. T-, NK-, and B-cell enumeration and quantitative immunoglobulin studies (for immunoglobulin G, A, M, D, and E) were performed. Cytofluorographic analyses of lymphocyte subpopulations were performed with murine monoclonal antibodies conjugated to either fluorescein (FITC) or phycoerythrin (PE) and then analyzed by flow cytometry (FACScan; Becton Dickinson, San Jose, CA, U.S.A.). Heparinized venous blood samples from patients and family members were fractionated on a Ficoll-Hypaque gradient to isolate PBMCs. For mutational analysis, genomic DNA was extracted from the peripheral lymphocytes, and 12 WASP gene exons were amplified by polymerase chain reaction (PCR) followed by direct sequencing according to the protocol of Sasahara et al. ( 18 ). Hematopoietic reconstitution following CBSCT was uneventful, with an absolute neutrophil count (ANC) of more than 500/µL on days 31 and 13 and a platelet count of more than 20,000/µL on days 58 and 50, for UPN 1 and UPN 2, respectively. Molecular chimerism studies using the VNTR method showed a complete donor cell type for these patients (data not shown). Acute GVHD did not occur, even after the infusion of HLA 1 or 2 antigen mismatched CB. UPN 1 experienced 1 episode of sepsis with B. cepacia during the pre-engraftment period without any complications. UPN 2 experienced fever and respiratory distress with hypoxemia due to pulmonary edema as well as skin rashes on the trunk in the pre-engraftment period (from days 8 to days 10), which mimics engraftment syndrome. He recovered with oxygen supply via endotracheal tube and fluid restriction as well as methylprednisone therapy. Both patients were clinically well without eczematous skin and recurrent infections at 60 months (UPN 1) and 55 months (UPN 2) post CBSCT. Clinical data regarding CBSCT are shown in Table 1 . The elevated total eosinophil counts and serum IgE levels have been normalized since 7 months post-transplantation in both children ( Table 2 ). Other immunologic parameters including IgG, IgA, IgM, IgD and lymphocyte subsets are summarized at Table 2 . To determine whether the genotype was corrected by CBSCT, we analyzed the WASP gene sequence before and after CBSCT in UPN 1. UPN 1 had a single base substitution (C665T) in exon 7 that results in an amino acid change in codon 211 (Arg211stop) before CBSCT. Following CBSCT, UPN1 had a normal sequence at the mutation site in exon 7 of the WASP gene ( Fig. 1 ).'}
|
Eyes-Ears-Nose-Throat
|
EENT
|
[] |
2719213
|
{'CASE REPORT': 'Patient 1 (UPN 1) is a male who was diagnosed with WAS at the age of 5 months. He presented with incidentally detected thrombocytopenia (23,000/µL) with skin eczema and severe, recurrent otitis media and diarrhea on admission. The second male patient (UPN 2) presented with neonatal thrombocytopenia at birth and received intermittent intravenous immunoglobulin (IVIG). Thereafter he experienced skin eczema and recurrent infections such as cellulitis and pneumonia, until he visited our hospital at 3 months old. Flow cytometric analysis of peripheral blood mononuclear cells (PBMC) for these 2 patients revealed a defect in WASP, leading to the diagnosis of WAS. Subsequently, the nonsense mutations, Arg211stop and Arg13stop, were confirmed by genomic analysis ( 17 ). Before transplantation, these patients were treated with monthly infusions of IVIG as well as supportive treatment but there was no clinical improvement. CBSCT was performed in a laminar air flow room with conventional supportive therapy. The pre-transplantation conditioning regimen for the 2 patients was 1 mg/kg of busulfan intravenously every 6 hr on days -9 through -6. This was followed by 50 mg/kg of intravenous cyclophosphamide on days -5 through -3 and 30 mg/kg of intravenous antithymocyte globulin (ATG) on days -3 through -1. Prophylaxis for acute graft versus host disease (GVHD) included continuous infusion of cyclosporine A beginning on day -1, targeting whole blood levels to be 200 to 400 ng/mL, and 1 mg/kg/dose of methylprednisone every 12 hr on days 5 through 19, and then a taper. The degree of human leukocyte antigen (HLA) match confirmed by high resolution DNA typing between the infused CB and the patients was 4/6 for UPN 1 and 5/6 for UPN 2. Infused cell doses of TNC and CD34+ cells for UPN1 and UPN2 were 6.24×10 7 /kg and 5.08×10 7 /kg for TNC, respectively, and 1.33×10 5 /kg and 4.8×10 5 /kg for CD34+ cells, respectively. T-, NK-, and B-cell enumeration and quantitative immunoglobulin studies (for immunoglobulin G, A, M, D, and E) were performed. Cytofluorographic analyses of lymphocyte subpopulations were performed with murine monoclonal antibodies conjugated to either fluorescein (FITC) or phycoerythrin (PE) and then analyzed by flow cytometry (FACScan; Becton Dickinson, San Jose, CA, U.S.A.). Heparinized venous blood samples from patients and family members were fractionated on a Ficoll-Hypaque gradient to isolate PBMCs. For mutational analysis, genomic DNA was extracted from the peripheral lymphocytes, and 12 WASP gene exons were amplified by polymerase chain reaction (PCR) followed by direct sequencing according to the protocol of Sasahara et al. ( 18 ). Hematopoietic reconstitution following CBSCT was uneventful, with an absolute neutrophil count (ANC) of more than 500/µL on days 31 and 13 and a platelet count of more than 20,000/µL on days 58 and 50, for UPN 1 and UPN 2, respectively. Molecular chimerism studies using the VNTR method showed a complete donor cell type for these patients (data not shown). Acute GVHD did not occur, even after the infusion of HLA 1 or 2 antigen mismatched CB. UPN 1 experienced 1 episode of sepsis with B. cepacia during the pre-engraftment period without any complications. UPN 2 experienced fever and respiratory distress with hypoxemia due to pulmonary edema as well as skin rashes on the trunk in the pre-engraftment period (from days 8 to days 10), which mimics engraftment syndrome. He recovered with oxygen supply via endotracheal tube and fluid restriction as well as methylprednisone therapy. Both patients were clinically well without eczematous skin and recurrent infections at 60 months (UPN 1) and 55 months (UPN 2) post CBSCT. Clinical data regarding CBSCT are shown in Table 1 . The elevated total eosinophil counts and serum IgE levels have been normalized since 7 months post-transplantation in both children ( Table 2 ). Other immunologic parameters including IgG, IgA, IgM, IgD and lymphocyte subsets are summarized at Table 2 . To determine whether the genotype was corrected by CBSCT, we analyzed the WASP gene sequence before and after CBSCT in UPN 1. UPN 1 had a single base substitution (C665T) in exon 7 that results in an amino acid change in codon 211 (Arg211stop) before CBSCT. Following CBSCT, UPN1 had a normal sequence at the mutation site in exon 7 of the WASP gene ( Fig. 1 ).'}
|
{'CASE REPORT': 'Patient 1 (UPN 1) is a male who was diagnosed with WAS at the age of 5 months. He presented with incidentally detected thrombocytopenia (23,000/µL) with skin eczema and severe, recurrent otitis media and diarrhea on admission. The second male patient (UPN 2) presented with neonatal thrombocytopenia at birth and received intermittent intravenous immunoglobulin (IVIG). Thereafter he experienced skin eczema and recurrent infections such as cellulitis and pneumonia, until he visited our hospital at 3 months old. Flow cytometric analysis of peripheral blood mononuclear cells (PBMC) for these 2 patients revealed a defect in WASP, leading to the diagnosis of WAS. Subsequently, the nonsense mutations, Arg211stop and Arg13stop, were confirmed by genomic analysis ( 17 ). Before transplantation, these patients were treated with monthly infusions of IVIG as well as supportive treatment but there was no clinical improvement. CBSCT was performed in a laminar air flow room with conventional supportive therapy. The pre-transplantation conditioning regimen for the 2 patients was 1 mg/kg of busulfan intravenously every 6 hr on days -9 through -6. This was followed by 50 mg/kg of intravenous cyclophosphamide on days -5 through -3 and 30 mg/kg of intravenous antithymocyte globulin (ATG) on days -3 through -1. Prophylaxis for acute graft versus host disease (GVHD) included continuous infusion of cyclosporine A beginning on day -1, targeting whole blood levels to be 200 to 400 ng/mL, and 1 mg/kg/dose of methylprednisone every 12 hr on days 5 through 19, and then a taper. The degree of human leukocyte antigen (HLA) match confirmed by high resolution DNA typing between the infused CB and the patients was 4/6 for UPN 1 and 5/6 for UPN 2. Infused cell doses of TNC and CD34+ cells for UPN1 and UPN2 were 6.24×10 7 /kg and 5.08×10 7 /kg for TNC, respectively, and 1.33×10 5 /kg and 4.8×10 5 /kg for CD34+ cells, respectively. T-, NK-, and B-cell enumeration and quantitative immunoglobulin studies (for immunoglobulin G, A, M, D, and E) were performed. Cytofluorographic analyses of lymphocyte subpopulations were performed with murine monoclonal antibodies conjugated to either fluorescein (FITC) or phycoerythrin (PE) and then analyzed by flow cytometry (FACScan; Becton Dickinson, San Jose, CA, U.S.A.). Heparinized venous blood samples from patients and family members were fractionated on a Ficoll-Hypaque gradient to isolate PBMCs. For mutational analysis, genomic DNA was extracted from the peripheral lymphocytes, and 12 WASP gene exons were amplified by polymerase chain reaction (PCR) followed by direct sequencing according to the protocol of Sasahara et al. ( 18 ). Hematopoietic reconstitution following CBSCT was uneventful, with an absolute neutrophil count (ANC) of more than 500/µL on days 31 and 13 and a platelet count of more than 20,000/µL on days 58 and 50, for UPN 1 and UPN 2, respectively. Molecular chimerism studies using the VNTR method showed a complete donor cell type for these patients (data not shown). Acute GVHD did not occur, even after the infusion of HLA 1 or 2 antigen mismatched CB. UPN 1 experienced 1 episode of sepsis with B. cepacia during the pre-engraftment period without any complications. UPN 2 experienced fever and respiratory distress with hypoxemia due to pulmonary edema as well as skin rashes on the trunk in the pre-engraftment period (from days 8 to days 10), which mimics engraftment syndrome. He recovered with oxygen supply via endotracheal tube and fluid restriction as well as methylprednisone therapy. Both patients were clinically well without eczematous skin and recurrent infections at 60 months (UPN 1) and 55 months (UPN 2) post CBSCT. Clinical data regarding CBSCT are shown in Table 1 . The elevated total eosinophil counts and serum IgE levels have been normalized since 7 months post-transplantation in both children ( Table 2 ). Other immunologic parameters including IgG, IgA, IgM, IgD and lymphocyte subsets are summarized at Table 2 . To determine whether the genotype was corrected by CBSCT, we analyzed the WASP gene sequence before and after CBSCT in UPN 1. UPN 1 had a single base substitution (C665T) in exon 7 that results in an amino acid change in codon 211 (Arg211stop) before CBSCT. Following CBSCT, UPN1 had a normal sequence at the mutation site in exon 7 of the WASP gene ( Fig. 1 ).'}
|
Dermatology
|
DERM
|
[
"skin eczema",
"skin eczema and recurrent infections such as cellulitis",
"skin rashes on the trunk in the pre - engraftment period",
"Both patients were clinically well without eczematous skin"
] |
2719213
|
{'CASE REPORT': 'Patient 1 (UPN 1) is a male who was diagnosed with WAS at the age of 5 months. He presented with incidentally detected thrombocytopenia (23,000/µL) with skin eczema and severe, recurrent otitis media and diarrhea on admission. The second male patient (UPN 2) presented with neonatal thrombocytopenia at birth and received intermittent intravenous immunoglobulin (IVIG). Thereafter he experienced skin eczema and recurrent infections such as cellulitis and pneumonia, until he visited our hospital at 3 months old. Flow cytometric analysis of peripheral blood mononuclear cells (PBMC) for these 2 patients revealed a defect in WASP, leading to the diagnosis of WAS. Subsequently, the nonsense mutations, Arg211stop and Arg13stop, were confirmed by genomic analysis ( 17 ). Before transplantation, these patients were treated with monthly infusions of IVIG as well as supportive treatment but there was no clinical improvement. CBSCT was performed in a laminar air flow room with conventional supportive therapy. The pre-transplantation conditioning regimen for the 2 patients was 1 mg/kg of busulfan intravenously every 6 hr on days -9 through -6. This was followed by 50 mg/kg of intravenous cyclophosphamide on days -5 through -3 and 30 mg/kg of intravenous antithymocyte globulin (ATG) on days -3 through -1. Prophylaxis for acute graft versus host disease (GVHD) included continuous infusion of cyclosporine A beginning on day -1, targeting whole blood levels to be 200 to 400 ng/mL, and 1 mg/kg/dose of methylprednisone every 12 hr on days 5 through 19, and then a taper. The degree of human leukocyte antigen (HLA) match confirmed by high resolution DNA typing between the infused CB and the patients was 4/6 for UPN 1 and 5/6 for UPN 2. Infused cell doses of TNC and CD34+ cells for UPN1 and UPN2 were 6.24×10 7 /kg and 5.08×10 7 /kg for TNC, respectively, and 1.33×10 5 /kg and 4.8×10 5 /kg for CD34+ cells, respectively. T-, NK-, and B-cell enumeration and quantitative immunoglobulin studies (for immunoglobulin G, A, M, D, and E) were performed. Cytofluorographic analyses of lymphocyte subpopulations were performed with murine monoclonal antibodies conjugated to either fluorescein (FITC) or phycoerythrin (PE) and then analyzed by flow cytometry (FACScan; Becton Dickinson, San Jose, CA, U.S.A.). Heparinized venous blood samples from patients and family members were fractionated on a Ficoll-Hypaque gradient to isolate PBMCs. For mutational analysis, genomic DNA was extracted from the peripheral lymphocytes, and 12 WASP gene exons were amplified by polymerase chain reaction (PCR) followed by direct sequencing according to the protocol of Sasahara et al. ( 18 ). Hematopoietic reconstitution following CBSCT was uneventful, with an absolute neutrophil count (ANC) of more than 500/µL on days 31 and 13 and a platelet count of more than 20,000/µL on days 58 and 50, for UPN 1 and UPN 2, respectively. Molecular chimerism studies using the VNTR method showed a complete donor cell type for these patients (data not shown). Acute GVHD did not occur, even after the infusion of HLA 1 or 2 antigen mismatched CB. UPN 1 experienced 1 episode of sepsis with B. cepacia during the pre-engraftment period without any complications. UPN 2 experienced fever and respiratory distress with hypoxemia due to pulmonary edema as well as skin rashes on the trunk in the pre-engraftment period (from days 8 to days 10), which mimics engraftment syndrome. He recovered with oxygen supply via endotracheal tube and fluid restriction as well as methylprednisone therapy. Both patients were clinically well without eczematous skin and recurrent infections at 60 months (UPN 1) and 55 months (UPN 2) post CBSCT. Clinical data regarding CBSCT are shown in Table 1 . The elevated total eosinophil counts and serum IgE levels have been normalized since 7 months post-transplantation in both children ( Table 2 ). Other immunologic parameters including IgG, IgA, IgM, IgD and lymphocyte subsets are summarized at Table 2 . To determine whether the genotype was corrected by CBSCT, we analyzed the WASP gene sequence before and after CBSCT in UPN 1. UPN 1 had a single base substitution (C665T) in exon 7 that results in an amino acid change in codon 211 (Arg211stop) before CBSCT. Following CBSCT, UPN1 had a normal sequence at the mutation site in exon 7 of the WASP gene ( Fig. 1 ).'}
|
{'CASE REPORT': 'Patient 1 (UPN 1) is a male who was diagnosed with WAS at the age of 5 months. He presented with incidentally detected thrombocytopenia (23,000/µL) with skin eczema and severe, recurrent otitis media and diarrhea on admission. The second male patient (UPN 2) presented with neonatal thrombocytopenia at birth and received intermittent intravenous immunoglobulin (IVIG). Thereafter he experienced skin eczema and recurrent infections such as cellulitis and pneumonia, until he visited our hospital at 3 months old. Flow cytometric analysis of peripheral blood mononuclear cells (PBMC) for these 2 patients revealed a defect in WASP, leading to the diagnosis of WAS. Subsequently, the nonsense mutations, Arg211stop and Arg13stop, were confirmed by genomic analysis ( 17 ). Before transplantation, these patients were treated with monthly infusions of IVIG as well as supportive treatment but there was no clinical improvement. CBSCT was performed in a laminar air flow room with conventional supportive therapy. The pre-transplantation conditioning regimen for the 2 patients was 1 mg/kg of busulfan intravenously every 6 hr on days -9 through -6. This was followed by 50 mg/kg of intravenous cyclophosphamide on days -5 through -3 and 30 mg/kg of intravenous antithymocyte globulin (ATG) on days -3 through -1. Prophylaxis for acute graft versus host disease (GVHD) included continuous infusion of cyclosporine A beginning on day -1, targeting whole blood levels to be 200 to 400 ng/mL, and 1 mg/kg/dose of methylprednisone every 12 hr on days 5 through 19, and then a taper. The degree of human leukocyte antigen (HLA) match confirmed by high resolution DNA typing between the infused CB and the patients was 4/6 for UPN 1 and 5/6 for UPN 2. Infused cell doses of TNC and CD34+ cells for UPN1 and UPN2 were 6.24×10 7 /kg and 5.08×10 7 /kg for TNC, respectively, and 1.33×10 5 /kg and 4.8×10 5 /kg for CD34+ cells, respectively. T-, NK-, and B-cell enumeration and quantitative immunoglobulin studies (for immunoglobulin G, A, M, D, and E) were performed. Cytofluorographic analyses of lymphocyte subpopulations were performed with murine monoclonal antibodies conjugated to either fluorescein (FITC) or phycoerythrin (PE) and then analyzed by flow cytometry (FACScan; Becton Dickinson, San Jose, CA, U.S.A.). Heparinized venous blood samples from patients and family members were fractionated on a Ficoll-Hypaque gradient to isolate PBMCs. For mutational analysis, genomic DNA was extracted from the peripheral lymphocytes, and 12 WASP gene exons were amplified by polymerase chain reaction (PCR) followed by direct sequencing according to the protocol of Sasahara et al. ( 18 ). Hematopoietic reconstitution following CBSCT was uneventful, with an absolute neutrophil count (ANC) of more than 500/µL on days 31 and 13 and a platelet count of more than 20,000/µL on days 58 and 50, for UPN 1 and UPN 2, respectively. Molecular chimerism studies using the VNTR method showed a complete donor cell type for these patients (data not shown). Acute GVHD did not occur, even after the infusion of HLA 1 or 2 antigen mismatched CB. UPN 1 experienced 1 episode of sepsis with B. cepacia during the pre-engraftment period without any complications. UPN 2 experienced fever and respiratory distress with hypoxemia due to pulmonary edema as well as skin rashes on the trunk in the pre-engraftment period (from days 8 to days 10), which mimics engraftment syndrome. He recovered with oxygen supply via endotracheal tube and fluid restriction as well as methylprednisone therapy. Both patients were clinically well without eczematous skin and recurrent infections at 60 months (UPN 1) and 55 months (UPN 2) post CBSCT. Clinical data regarding CBSCT are shown in Table 1 . The elevated total eosinophil counts and serum IgE levels have been normalized since 7 months post-transplantation in both children ( Table 2 ). Other immunologic parameters including IgG, IgA, IgM, IgD and lymphocyte subsets are summarized at Table 2 . To determine whether the genotype was corrected by CBSCT, we analyzed the WASP gene sequence before and after CBSCT in UPN 1. UPN 1 had a single base substitution (C665T) in exon 7 that results in an amino acid change in codon 211 (Arg211stop) before CBSCT. Following CBSCT, UPN1 had a normal sequence at the mutation site in exon 7 of the WASP gene ( Fig. 1 ).'}
|
Pregnancy
|
Pregnancy
|
[] |
2719213
|
{'CASE REPORT': 'Patient 1 (UPN 1) is a male who was diagnosed with WAS at the age of 5 months. He presented with incidentally detected thrombocytopenia (23,000/µL) with skin eczema and severe, recurrent otitis media and diarrhea on admission. The second male patient (UPN 2) presented with neonatal thrombocytopenia at birth and received intermittent intravenous immunoglobulin (IVIG). Thereafter he experienced skin eczema and recurrent infections such as cellulitis and pneumonia, until he visited our hospital at 3 months old. Flow cytometric analysis of peripheral blood mononuclear cells (PBMC) for these 2 patients revealed a defect in WASP, leading to the diagnosis of WAS. Subsequently, the nonsense mutations, Arg211stop and Arg13stop, were confirmed by genomic analysis ( 17 ). Before transplantation, these patients were treated with monthly infusions of IVIG as well as supportive treatment but there was no clinical improvement. CBSCT was performed in a laminar air flow room with conventional supportive therapy. The pre-transplantation conditioning regimen for the 2 patients was 1 mg/kg of busulfan intravenously every 6 hr on days -9 through -6. This was followed by 50 mg/kg of intravenous cyclophosphamide on days -5 through -3 and 30 mg/kg of intravenous antithymocyte globulin (ATG) on days -3 through -1. Prophylaxis for acute graft versus host disease (GVHD) included continuous infusion of cyclosporine A beginning on day -1, targeting whole blood levels to be 200 to 400 ng/mL, and 1 mg/kg/dose of methylprednisone every 12 hr on days 5 through 19, and then a taper. The degree of human leukocyte antigen (HLA) match confirmed by high resolution DNA typing between the infused CB and the patients was 4/6 for UPN 1 and 5/6 for UPN 2. Infused cell doses of TNC and CD34+ cells for UPN1 and UPN2 were 6.24×10 7 /kg and 5.08×10 7 /kg for TNC, respectively, and 1.33×10 5 /kg and 4.8×10 5 /kg for CD34+ cells, respectively. T-, NK-, and B-cell enumeration and quantitative immunoglobulin studies (for immunoglobulin G, A, M, D, and E) were performed. Cytofluorographic analyses of lymphocyte subpopulations were performed with murine monoclonal antibodies conjugated to either fluorescein (FITC) or phycoerythrin (PE) and then analyzed by flow cytometry (FACScan; Becton Dickinson, San Jose, CA, U.S.A.). Heparinized venous blood samples from patients and family members were fractionated on a Ficoll-Hypaque gradient to isolate PBMCs. For mutational analysis, genomic DNA was extracted from the peripheral lymphocytes, and 12 WASP gene exons were amplified by polymerase chain reaction (PCR) followed by direct sequencing according to the protocol of Sasahara et al. ( 18 ). Hematopoietic reconstitution following CBSCT was uneventful, with an absolute neutrophil count (ANC) of more than 500/µL on days 31 and 13 and a platelet count of more than 20,000/µL on days 58 and 50, for UPN 1 and UPN 2, respectively. Molecular chimerism studies using the VNTR method showed a complete donor cell type for these patients (data not shown). Acute GVHD did not occur, even after the infusion of HLA 1 or 2 antigen mismatched CB. UPN 1 experienced 1 episode of sepsis with B. cepacia during the pre-engraftment period without any complications. UPN 2 experienced fever and respiratory distress with hypoxemia due to pulmonary edema as well as skin rashes on the trunk in the pre-engraftment period (from days 8 to days 10), which mimics engraftment syndrome. He recovered with oxygen supply via endotracheal tube and fluid restriction as well as methylprednisone therapy. Both patients were clinically well without eczematous skin and recurrent infections at 60 months (UPN 1) and 55 months (UPN 2) post CBSCT. Clinical data regarding CBSCT are shown in Table 1 . The elevated total eosinophil counts and serum IgE levels have been normalized since 7 months post-transplantation in both children ( Table 2 ). Other immunologic parameters including IgG, IgA, IgM, IgD and lymphocyte subsets are summarized at Table 2 . To determine whether the genotype was corrected by CBSCT, we analyzed the WASP gene sequence before and after CBSCT in UPN 1. UPN 1 had a single base substitution (C665T) in exon 7 that results in an amino acid change in codon 211 (Arg211stop) before CBSCT. Following CBSCT, UPN1 had a normal sequence at the mutation site in exon 7 of the WASP gene ( Fig. 1 ).'}
|
{'CASE REPORT': 'Patient 1 (UPN 1) is a male who was diagnosed with WAS at the age of 5 months. He presented with incidentally detected thrombocytopenia (23,000/µL) with skin eczema and severe, recurrent otitis media and diarrhea on admission. The second male patient (UPN 2) presented with neonatal thrombocytopenia at birth and received intermittent intravenous immunoglobulin (IVIG). Thereafter he experienced skin eczema and recurrent infections such as cellulitis and pneumonia, until he visited our hospital at 3 months old. Flow cytometric analysis of peripheral blood mononuclear cells (PBMC) for these 2 patients revealed a defect in WASP, leading to the diagnosis of WAS. Subsequently, the nonsense mutations, Arg211stop and Arg13stop, were confirmed by genomic analysis ( 17 ). Before transplantation, these patients were treated with monthly infusions of IVIG as well as supportive treatment but there was no clinical improvement. CBSCT was performed in a laminar air flow room with conventional supportive therapy. The pre-transplantation conditioning regimen for the 2 patients was 1 mg/kg of busulfan intravenously every 6 hr on days -9 through -6. This was followed by 50 mg/kg of intravenous cyclophosphamide on days -5 through -3 and 30 mg/kg of intravenous antithymocyte globulin (ATG) on days -3 through -1. Prophylaxis for acute graft versus host disease (GVHD) included continuous infusion of cyclosporine A beginning on day -1, targeting whole blood levels to be 200 to 400 ng/mL, and 1 mg/kg/dose of methylprednisone every 12 hr on days 5 through 19, and then a taper. The degree of human leukocyte antigen (HLA) match confirmed by high resolution DNA typing between the infused CB and the patients was 4/6 for UPN 1 and 5/6 for UPN 2. Infused cell doses of TNC and CD34+ cells for UPN1 and UPN2 were 6.24×10 7 /kg and 5.08×10 7 /kg for TNC, respectively, and 1.33×10 5 /kg and 4.8×10 5 /kg for CD34+ cells, respectively. T-, NK-, and B-cell enumeration and quantitative immunoglobulin studies (for immunoglobulin G, A, M, D, and E) were performed. Cytofluorographic analyses of lymphocyte subpopulations were performed with murine monoclonal antibodies conjugated to either fluorescein (FITC) or phycoerythrin (PE) and then analyzed by flow cytometry (FACScan; Becton Dickinson, San Jose, CA, U.S.A.). Heparinized venous blood samples from patients and family members were fractionated on a Ficoll-Hypaque gradient to isolate PBMCs. For mutational analysis, genomic DNA was extracted from the peripheral lymphocytes, and 12 WASP gene exons were amplified by polymerase chain reaction (PCR) followed by direct sequencing according to the protocol of Sasahara et al. ( 18 ). Hematopoietic reconstitution following CBSCT was uneventful, with an absolute neutrophil count (ANC) of more than 500/µL on days 31 and 13 and a platelet count of more than 20,000/µL on days 58 and 50, for UPN 1 and UPN 2, respectively. Molecular chimerism studies using the VNTR method showed a complete donor cell type for these patients (data not shown). Acute GVHD did not occur, even after the infusion of HLA 1 or 2 antigen mismatched CB. UPN 1 experienced 1 episode of sepsis with B. cepacia during the pre-engraftment period without any complications. UPN 2 experienced fever and respiratory distress with hypoxemia due to pulmonary edema as well as skin rashes on the trunk in the pre-engraftment period (from days 8 to days 10), which mimics engraftment syndrome. He recovered with oxygen supply via endotracheal tube and fluid restriction as well as methylprednisone therapy. Both patients were clinically well without eczematous skin and recurrent infections at 60 months (UPN 1) and 55 months (UPN 2) post CBSCT. Clinical data regarding CBSCT are shown in Table 1 . The elevated total eosinophil counts and serum IgE levels have been normalized since 7 months post-transplantation in both children ( Table 2 ). Other immunologic parameters including IgG, IgA, IgM, IgD and lymphocyte subsets are summarized at Table 2 . To determine whether the genotype was corrected by CBSCT, we analyzed the WASP gene sequence before and after CBSCT in UPN 1. UPN 1 had a single base substitution (C665T) in exon 7 that results in an amino acid change in codon 211 (Arg211stop) before CBSCT. Following CBSCT, UPN1 had a normal sequence at the mutation site in exon 7 of the WASP gene ( Fig. 1 ).'}
|
Lymphatic-System
|
LYMPH
|
[] |
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