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values | role stringclasses 18
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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 d... | {'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 d... | 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 cl... |
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 d... | {'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 d... | 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 hyp... |
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 d... | {'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 d... | 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 d... | {'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 d... | 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 d... | {'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 d... | 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 d... | {'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 d... | 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 d... | {'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 d... | 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 d... | {'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 d... | Dermatology | DERM | [] |
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 d... | {'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 d... | Pregnancy | Pregnancy | [] |
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 d... | {'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 d... | 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 d... | {'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 d... | 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 d... | {'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 d... | 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 d... | {'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 d... | 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 d... | {'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 d... | 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 he... | {'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 he... | 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 he... | {'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 he... | 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 he... | {'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 he... | 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 abilit... |
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 he... | {'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 he... | 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 he... | {'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 he... | 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 he... | {'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 he... | 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 he... | {'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 he... | 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 he... | {'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 he... | 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 he... | {'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 he... | 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 he... | {'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 he... | 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 he... | {'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 he... | 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 he... | {'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 he... | 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 easi... |
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 he... | {'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 he... | 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 he... | {'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 he... | 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 he... | {'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 he... | 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 he... | {'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 he... | 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 he... | {'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 he... | 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 he... | {'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 he... | 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 proban... | {'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 proban... | 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 proban... | {'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 proban... | 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 proban... | {'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 proban... | 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 proban... | {'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 proban... | 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 sha... |
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 proban... | {'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 proban... | 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 re... |
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 proban... | {'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 proban... | 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 proban... | {'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 proban... | 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 proban... | {'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 proban... | 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 proban... | {'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 proban... | 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 proban... | {'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 proban... | 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 proban... | {'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 proban... | 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 proban... | {'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 proban... | 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 proban... | {'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 proban... | 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 proban... | {'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 proban... | 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 proban... | {'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 proban... | 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 proban... | {'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 proban... | 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 proban... | {'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 proban... | 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 proban... | {'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 proban... | 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... | {'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... | 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... | {'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... | 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... | {'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... | 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... | {'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... | 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... | {'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... | 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... | {'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... | 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... | {'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... | 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... | {'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... | 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... | {'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... | 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... | {'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... | 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... | {'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... | 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... | {'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... | 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 ... |
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... | {'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... | 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... | {'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... | 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... | {'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... | 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... | {'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... | 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... | {'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... | 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... | {'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... | 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 ... | {'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 ... | 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 ... | {'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 ... | 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 ... | {'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 ... | 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 ... | {'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 ... | 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 ... | {'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 ... | 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 ... | {'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 ... | 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 ... | {'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 ... | 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 ... | {'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 ... | 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 ... | {'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 ... | 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 ... | {'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 ... | 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 ... | {'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 ... | 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 ... | {'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 ... | 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 ... | {'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 ... | 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 ... | {'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 ... | 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 ... | {'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 ... | 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 ... | {'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 ... | 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 ... | {'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 ... | 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 ... | {'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 ... | 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 ... | {'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 ... | 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 ... | {'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 ... | 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 ... | {'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 ... | 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 b... |
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 ... | {'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 ... | 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 ... | {'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 ... | 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 mo... |
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 ... | {'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 ... | 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 ... | {'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 ... | 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 ... | {'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 ... | 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 ... | {'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 ... | 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 ... | {'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 ... | 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 ... | {'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 ... | 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 ... | {'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 ... | 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 ... | {'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 ... | 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 ... | {'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 ... | Lymphatic-System | LYMPH | [] |
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