[ { "doc_id": 20, "label": "proficient_health_literacy", "fulltext": "Patient A.P., female, born in 1979, has been diagnosed with dilatation cardiomyopathy in 1996. Anamnestically, disease started with tonsillitis, possible myocarditis (which was never proven), with pronounced symptoms of heart failure and general symptoms. She was hospitalized and after one month, the left ventricular ejection fraction was 10% with the aforementioned signs of congestive heart failure. She was hospitalized for 10 months and 9 days, with standard therapy for vitally endangered patient, oxygen support, numerous adjuvant therapy, and intensive monitoring. Therapy was administered (ACE inhibitor - ramipril, cardiotonic - digoxin, beta-blockers - metoprolol and combination of diuretics - furosemide and spironolactone), with the indication of heart transplantation. Clinical improvement occured with an ejection fraction that was gradually increasing and at the age of 21 she entered in remission or stabilization phase, with the ejection fraction value of 48-57% (regular echocardiography was performed every three months). For the following four years therapy remained the same, but in Jun 2004 (after an episode of low immunity), ejection fraction fell to 25%, with a clinical deterioration of the disease. The patient was hospitalized for a period of two months, and the condition stabilized, and she was discharged with therapy that was the same but without cardiotonic. Ejection fraction was stabilized, and in year 2006 it was 50%. At the age of 27, the patient decided on the first pregnancy that was successful with beta blocker (metoprolol) in therapy. After the first pregnancy, the ejection fraction was 40% and she was treated with the same therapy with eplerenone (25 mg) instead of spironolactone. The ejection fraction was controlled and did not fall below 45%. At the end of 2015 the patient became pregnant for the second time, and the pregnancy went neatly until eighth month (35 weeks), when she was urgently admitted to hospital, due to sense of suffocation and inability to walk. Ejection fraction decreased to 18% (brain natriuretic peptide (BNP) was 2600 pg/ mL (reference values are 100-400 pg/ mL)). During pregnancy she received only metoprolol in therapy. Physicians decide to continue with her pregnancy, in the 39th week they performed c-section, and the condition stabilized again after twenty days. In October 2016 new mode of therapy was administered, ramipril (2.5 mg, in the morning), metoprolol (47.5 mg, in the morning), spironolactone (50 mg, once a day) and ivabradine (5 mg, twice a day) with torasemide (5 mg, once a day). LifeVest Defibrillator was carried from 06 December 2016 until 27 February 2017 when it was removed. When removed and after examination (ejection fraction was 44%) she continued with ramipril therapy (1.25 mg) metoprolol (23.75 mg), torasemide (5 mg), spironolactone (25 mg) and ivabradine (7.5 mg, twice a day) with potassium supplements, and compliance with non-pharmacological measures (fluid intake restricted to 1.5 L/ day). The echocardiographic finding in March 2017 showed left ventricular dilatation with moderately reduced left ventricular function and left ventricular wall hypokinesia with ejection fraction of 44% (insignificant pericardial effusion was present, inferior vena cava with physiological flow, preserved valves function - Dopler sonography showed slight insufficiency of mitral valve with dilatation of anulus). Evaluation of a patient with ejection fraction 44% showed no indication for an implantable cardioverter defibrillator (ICD), and conservative procedure and medication therapy were recommended. Regular check-ups and body mass reduction, regular control of renal function parameters and electrolytes were recommended. She is led under the diagnosis of dilated cardiomyopathy and heart failure NYHA stage II without any indication for the ICD prophylactic implantation.", "diff_label_texts": "Patient A.P., female, born 1979, was diagnosed with dilated cardiomyopathy (DCM) in 1996 after a prodrome of tonsillitis with possible myocarditis (never proven), presenting with pronounced symptoms of heart failure and systemic symptoms. After one month of hospitalization, the left ventricular ejection fraction (LVEF) was 10% with signs of congestive heart failure. She remained hospitalized for 10 months and 9 days with standard therapy for a vitally endangered patient, oxygen support, numerous adjuvant therapies, and intensive monitoring. Pharmacotherapy included an ACE inhibitor (ramipril), a cardiotonic (digoxin), a beta‑blocker (metoprolol), and combined diuretics (furosemide and spironolactone), with the indication of heart transplantation.\nClinical improvement ensued with gradual LVEF increase; by age 21 she entered a remission/stabilization phase with LVEF 48–57%, with echocardiography every three months. Over the next four years therapy was unchanged. In June 2004, following an episode of low immunity, LVEF fell to 25% with clinical deterioration; she was hospitalized for two months, stabilized, and discharged on the same regimen but without the cardiotonic. LVEF stabilized and was 50% in 2006. At age 27, the first pregnancy was successful on metoprolol. Postpartum, LVEF was 40%, and eplerenone 25 mg replaced spironolactone; LVEF remained ≥45%.\nAt the end of 2015 she became pregnant again. The course was uneventful until 35 weeks, when she was urgently admitted with dyspnea and inability to walk. LVEF was 18% and BNP 2600 pg/mL (reference 100–400 pg/mL). During pregnancy she received only metoprolol. The team decided to continue the pregnancy; at 39 weeks a cesarean section was performed, and the condition stabilized after 20 days.\nIn October 2016, therapy was adjusted to ramipril 2.5 mg qAM, metoprolol 47.5 mg qAM, spironolactone 50 mg daily, ivabradine 5 mg BID, and torasemide 5 mg daily. A LifeVest defibrillator was worn from 06 Dec 2016 to 27 Feb 2017, then removed. On removal/examination, LVEF was 44%. Maintenance therapy was ramipril 1.25 mg, metoprolol 23.75 mg, torasemide 5 mg, spironolactone 25 mg, and ivabradine 7.5 mg BID, plus potassium supplements and non‑pharmacological measures (fluid restriction to 1.5 L/day).\nEchocardiography in March 2017 showed left ventricular dilatation with moderately reduced LV systolic function and LV wall hypokinesia; LVEF 44%; insignificant pericardial effusion; inferior vena cava with physiological flow; preserved valvular function with Doppler evidence of slight mitral regurgitation due to annular dilatation. With LVEF 44%, there was no indication for implantable cardioverter‑defibrillator (ICD); conservative management and medical therapy were recommended, along with regular follow‑up, body mass reduction, and periodic monitoring of renal function and electrolytes. She carries the diagnosis of DCM with heart failure NYHA class II, without indication for prophylactic ICD implantation. As of May 2017 she was clinically stable on ACE inhibitor, beta‑blocker, diuretics, and an If‑channel blocker, and is a mother of two and unemployed.", "summary": "Patient A.P., female, 38 years old, had symptoms of dilated cardiomyopathy (with possible infectious myocarditis in the background) at age 17. After hospitalization for ten months and ten days, while waiting for heart transplantation (with threatening death outcome), without a clearly pronounced threatening arrhythmia, but with a low ejection fraction and a poor general condition, remission occurred. The therapy focused primarily on the treatment of heart failure, prevention of arrhythmia and thromboembolism. Normalization of the disease by improving the function of the left ventricle (expected in 16% of patients) occurred and lasted for 4 years, followed by an exacerbation of the disease that lasted for two years. In the next few years the patient was stable, had a first child with normal pregnancy. During the second trimester of the second pregnancy, there was an exacerbation (postpartum dilatation cardiomyopathy) lasting for couple of months. At the time of case report (May 2017), the patient is stable on therapy (ACE inhibitor, beta blocker, diuretics, If channel blocker), without limitation of physical capacity, mother of two children, unemployed." }, { "doc_id": 21, "label": "proficient_health_literacy", "fulltext": "27-year-old male patient with a history of fibrous dysplasia in the right proximal femur, which was managed prophylactically to reduce the risk of fracture 20 years ago by curettage (intralesional resection), application of bone graft and fixation with osteosynthesis material, which was removed one year after the fixation. Two weeks before admission to hospital, the patient experienced pain after a fall with low energy mechanism characterised by axial load and rotational component of the right hip, which resulted in pain intensity 8/10 on the visual analogue scale (VAS) at the level of the inguinal fold and right thigh, which incapacitated him for walking. Radiological control was performed at four weeks, observing all prosthetic components adequately. The patient was discharged clinically and haemodynamically stable, without the need for transfusion of blood products. During his follow-up in the postoperative period (612 weeks), the patient continued with partial support until day 20, in which he began with full support even accompanied by a walker. Radiological control was performed at four weeks, observing all prosthetic components adequately. The patient is currently carrying out daily activities with slight limitation due to claudicatio intermittens caused by the incision in the middle gluteus. However, he was able to participate in low-impact sports activities, such as walking and expressed great satisfaction with the functional outcome of the procedure.\n", "diff_label_texts": "We report a 27-year-old male who presented to the emergency department with a right femoral fracture at the base of the neck on pathologic ground, classified as Garden II, Pauwells III, AO 31B2.3r, following a low-energy mechanism characterized by axial load with a rotational component of the right hip. He had a history of fibrous dysplasia (DF) of the right proximal femur managed prophylactically 20 years prior with intralesional resection (curettage), bone grafting, and fixation with unspecified osteosynthesis material in the pertrochanteric region; the biopsy subsequently confirmed DF, and the osteosynthesis was removed one year later. Two weeks before admission he sustained the fall, developed VAS 8/10 pain localized to the right inguinal fold and thigh, and was unable to ambulate. Given the fracture characteristics and pathologic substrate, a definitive, curative approach was undertaken: wide resection of the proximal femur and total hip arthroplasty with a modular prosthesis, including cerclage placement, plus an excisional biopsy. The biopsy corroborated recurrence/persistence of the same DF treated in childhood. Postoperatively, the patient remained clinically and hemodynamically stable without transfusion requirements. He maintained partial weight-bearing until approximately day 20, then advanced to full weight-bearing with a walker. Radiological control at four weeks demonstrated all prosthetic components in adequate position. At follow-up (approximately 6–12 weeks), he resumed activities of daily living with slight limitation due to claudicatio intermittens attributed to the middle gluteus incision, participated in low-impact sports (e.g., walking), and expressed high satisfaction with functional outcomes.", "summary": "We present the case of a 27-year-old male patient who presented to the emergency department with a fracture of the right femur at the base of the neck in pathological ground Garden II Pauwells III AO 31B2.3r, after a low energy mechanism of injury characterized by axial load with rotational component of the right hip. The patient had a history of intralesional resection, application of bone graft and prophylactic fixation with unspecified osteosynthesis material in the pertrochanteric region 20 years ago; the biopsy later showed DF; one year later, the osteosynthesis material was removed. Due to the characteristics of the fracture and as a definitive and curative therapeutic method, it was decided to carry out a wide resection of the proximal femur and total arthroplasty of the hip with a modular prosthesis with placement of cerclage, as well as a excisional biopsy that later corroborated that it was the same DF treated in childhood.\n" }, { "doc_id": 22, "label": "low_health_literacy", "fulltext": "A 4-year-old boy with stage IV neuroblastoma received four cycles of chemotherapy, including high-dose chemotherapy including busulfan and melphalan, followed by autologous peripheral blood stem cell transplantation with autologous bone marrow supplementation. After eight additional cycles of chemotherapy consisting of temozolomide and irinotecan, which led to stable disease, the patient underwent preparative conditioning with fludarabine (150 mg/m2), melphalan (140 mg/m2), and 12 Gy of TBI for subsequent allogeneic CBT. The patient received tacrolimus and a short-term course of methotrexate for GVHD prophylaxis. The patient underwent engraftment on day 17. He then developed grade 3 GVHD, which was managed by increasing the prednisolone dose and was later discharged on day 85. The patient also received proton beam therapy (39.6 Gy) from days 121 to 150 post-transplantation for a right supra-mediastinum tumor with residual I123-MIBG accumulation in the right adrenal gland.\n\nThe patient remained healthy with no evidence of GVHD until presentation at our hospital with a productive cough on day 159. As his older brother displayed similar cold symptoms, a rapid antigen test for RSV was performed, which revealed a positive result. His respiratory symptoms gradually worsened, and he revisited our hospital on day 194 with dyspnea and intercostal retractions. Upon admission, he was given 0.7-1.0 mg/kg of prednisolone, which failed to improve his respiratory condition. Chest computed tomography on day 231 revealed infiltration, ground-glass opacity, and septal thickening in the bilateral lung fields along with right pleural effusion. Echocardiography showed an elevated tricuspid regurgitation peak velocity of 4.1 m/s and an interventricular septum close to the isobaric, indicating the presence of PH. In addition, pericardial effusion was detected. On day 231, the patient was transferred to the pediatric intensive care unit, where mechanical ventilation and inhaled nitric oxide (NO) were initiated. Thoracoscopic lung biopsy on day 244 revealed diffuse intra-alveolar hemorrhage and edema on hematoxylin-eosin (HE)-stained samples. Elastica van Gieson staining revealed diffuse obstructive lesions due to fibrocellular components with plump endothelial cells in the pre-septal pulmonary veins and venules. While pulmonary muscular arteries and arterioles showed mild medial hypertrophy and focal intimal thickening (Heath-Edwards Grade 2), severe stenosis with concentric intimal fibrosis or plexiform lesions was present. Based on these results, the patient was diagnosed with PVOD with mild pulmonary arterial/arteriolar lesions. Of note, HE staining also revealed enlarged type II pneumocytes with multinucleated and giant cell-like features, indicating the presence of prior lung injury that was likely attributable to his preceding viral infection.", "diff_label_texts": "A 4-year-old boy had a cancer called neuroblastoma that had spread. He got strong chemotherapy and then had his own stem cells put back. Later, he received a cord blood transplant from a donor. About a month before his lung problem, he had cold-like symptoms and tested positive for RSV. On day 194 after the cord blood transplant, he developed a rare problem where the small veins in the lungs get blocked (PVOD). A lung biopsy showed damage that looked like it came from a virus, along with the PVOD changes. This suggests the RSV infection may have helped trigger the lung problem.", "summary": "A 4-year-old boy was diagnosed with metastatic neuroblastoma and underwent intensive chemotherapy, autologous HSCT, and allogeneic cord blood transplantation (CBT). He experienced PVOD on day 194 following CBT after displaying upper respiratory symptoms and positive RSV antigen test results approximately one month prior. Pathological examination of a lung biopsy specimen revealed lung injury suspected to be associated with viral infection in addition to PVOD-related findings, suggesting that RSV infection might have contributed to the onset of PVOD." }, { "doc_id": 22, "label": "proficient_health_literacy", "fulltext": "A 4-year-old boy with stage IV neuroblastoma received four cycles of chemotherapy, including high-dose chemotherapy including busulfan and melphalan, followed by autologous peripheral blood stem cell transplantation with autologous bone marrow supplementation. After eight additional cycles of chemotherapy consisting of temozolomide and irinotecan, which led to stable disease, the patient underwent preparative conditioning with fludarabine (150 mg/m2), melphalan (140 mg/m2), and 12 Gy of TBI for subsequent allogeneic CBT. The patient received tacrolimus and a short-term course of methotrexate for GVHD prophylaxis. The patient underwent engraftment on day 17. He then developed grade 3 GVHD, which was managed by increasing the prednisolone dose and was later discharged on day 85. The patient also received proton beam therapy (39.6 Gy) from days 121 to 150 post-transplantation for a right supra-mediastinum tumor with residual I123-MIBG accumulation in the right adrenal gland.\n\nThe patient remained healthy with no evidence of GVHD until presentation at our hospital with a productive cough on day 159. As his older brother displayed similar cold symptoms, a rapid antigen test for RSV was performed, which revealed a positive result. His respiratory symptoms gradually worsened, and he revisited our hospital on day 194 with dyspnea and intercostal retractions. Upon admission, he was given 0.7-1.0 mg/kg of prednisolone, which failed to improve his respiratory condition. Chest computed tomography on day 231 revealed infiltration, ground-glass opacity, and septal thickening in the bilateral lung fields along with right pleural effusion. Echocardiography showed an elevated tricuspid regurgitation peak velocity of 4.1 m/s and an interventricular septum close to the isobaric, indicating the presence of PH. In addition, pericardial effusion was detected. On day 231, the patient was transferred to the pediatric intensive care unit, where mechanical ventilation and inhaled nitric oxide (NO) were initiated. Thoracoscopic lung biopsy on day 244 revealed diffuse intra-alveolar hemorrhage and edema on hematoxylin-eosin (HE)-stained samples. Elastica van Gieson staining revealed diffuse obstructive lesions due to fibrocellular components with plump endothelial cells in the pre-septal pulmonary veins and venules. While pulmonary muscular arteries and arterioles showed mild medial hypertrophy and focal intimal thickening (Heath-Edwards Grade 2), severe stenosis with concentric intimal fibrosis or plexiform lesions was present. Based on these results, the patient was diagnosed with PVOD with mild pulmonary arterial/arteriolar lesions. Of note, HE staining also revealed enlarged type II pneumocytes with multinucleated and giant cell-like features, indicating the presence of prior lung injury that was likely attributable to his preceding viral infection.", "diff_label_texts": "A 4-year-old boy with stage IV neuroblastoma underwent four cycles of chemotherapy including high-dose busulfan and melphalan, followed by autologous peripheral blood stem cell transplantation with autologous bone marrow supplementation. After eight additional cycles of temozolomide and irinotecan resulting in stable disease, he received conditioning with fludarabine (150 mg/m2), melphalan (140 mg/m2), and 12 Gy total body irradiation for allogeneic cord blood transplantation (CBT). GVHD prophylaxis consisted of tacrolimus and short-course methotrexate; neutrophil engraftment occurred on day 17. He developed grade 3 GVHD managed by escalation of prednisolone, and he was discharged on day 85. Proton beam therapy (39.6 Gy) was administered on days 121–150 for a right supra-mediastinum tumor with residual I123-MIBG accumulation in the right adrenal gland. He remained clinically stable until day 159, when he developed a productive cough; a rapid antigen assay was positive for RSV, concordant with similar symptoms in an older sibling. Symptoms progressed, and on day 194 he re-presented with dyspnea and intercostal retractions. Prednisolone 0.7–1.0 mg/kg was initiated without clinical improvement. Chest CT on day 231 demonstrated bilateral infiltrates, ground-glass opacities, and septal thickening with a right pleural effusion. Echocardiography showed tricuspid regurgitation peak velocity of 4.1 m/s and an interventricular septum close to the isobaric position, consistent with pulmonary hypertension; pericardial effusion was also present. He was transferred to the PICU on day 231 for mechanical ventilation and inhaled nitric oxide. Thoracoscopic lung biopsy on day 244 revealed diffuse intra-alveolar hemorrhage and edema on HE staining. Elastica van Gieson staining demonstrated diffuse obstructive fibrocellular lesions with plump endothelial cells in pre-septal pulmonary veins and venules. Pulmonary muscular arteries/arterioles exhibited mild medial hypertrophy and focal intimal thickening (Heath-Edwards Grade 2), while severe stenosis with concentric intimal fibrosis or plexiform lesions was present. Overall, the findings supported a diagnosis of pulmonary veno-occlusive disease (PVOD) with mild pulmonary arterial/arteriolar lesions. Notably, HE staining showed enlarged type II pneumocytes with multinucleation and giant cell-like changes, indicating prior lung injury likely related to the antecedent RSV infection. In this post-CBT setting, the temporal association of RSV positivity (day 159) preceding clinical deterioration (day 194) and the biopsy evidence of viral-type injury support RSV as a potential contributor to PVOD onset, plausibly via endothelial injury in susceptible post-transplant pulmonary microvasculature.", "summary": "A 4-year-old boy was diagnosed with metastatic neuroblastoma and underwent intensive chemotherapy, autologous HSCT, and allogeneic cord blood transplantation (CBT). He experienced PVOD on day 194 following CBT after displaying upper respiratory symptoms and positive RSV antigen test results approximately one month prior. Pathological examination of a lung biopsy specimen revealed lung injury suspected to be associated with viral infection in addition to PVOD-related findings, suggesting that RSV infection might have contributed to the onset of PVOD." }, { "doc_id": 23, "label": "proficient_health_literacy", "fulltext": "65-year-old male with no personal or family history of pathology of relevance. His condition began in 2020 with productive cough that intensified and was accompanied by shortness of breath with small to medium effort; as well as loss of 10 kg of weight in a period of 4 months. He went to a doctor who requested a chest X-ray that showed massive, multilocular right pleural effusion with right bronchial obstruction and mediastinal lymphadenopathy. A thoracocentesis was performed with a biopsy of the right lung and parietal pleura. The histopathological study reported an adeno-squamous carcinoma. His evolution was bad, which is why he was referred to our institution. On admission, a physical examination found him cachectic, with right pulmonary hypoventilation, 92% oxygen saturation and pneumokoccal dysfunction, with no evidence of systemic or haemodynamic compromise. A chest X-ray was performed that showed complete opacity of the right hemithorax, and a pleural catheter was placed with a serohematic flow. In the histopathological study of the revision material, the lung parenchyma was replaced by a poorly differentiated neoplasm with a solid mantle and syncytia, surrounded by abundant lymphocytes and plasma cells. The neoplastic cells had large, ovoid nuclei, fine chromatin, prominent nucleolus and wide, poorly defined cytoplasm. An immunohistochemical study was performed that was positive for CKAE1/AE3, CK 5/6, p63, EBER ISH, and negative for Napsina A, TTF-1 and CK 7, which ruled out the reference diagnosis of adeno-squamous carcinoma and established the diagnosis of CTLP. Molecular study in the paraffin block was positive for PD-L1 (SP263) +++ in approximately 100% of the neoplastic cells, and negative for EGFR, K-RAS, ALK, ROS1. In order to confirm the pulmonary origin of the neoplasm, a nasopharyngeal examination was performed that was negative. In April 2021, a PET-CT was performed that reported a heterogeneous parahilary pulmonary lesion that compromised the main bronchus and caused atelectasis; as well as multiple cervical, mediastinal and peri-gastric lymphadenopathies. The catheter was removed due to partial resolution of the effusion and chemotherapy treatment with gemcitabine/cisplatin was initiated. He received 6 cycles, however, the patient reported hearing loss and AKIN I acute renal failure was documented, so cisplatin was changed to carboplatin, and maintenance durvalumab was continued. In December 2021, disease progression was documented and he died in January 2022 due to respiratory failure.\n", "diff_label_texts": "A 65-year-old man developed productive cough, dyspnea on exertion, and 10-kg weight loss. Chest imaging included a CT scan demonstrating a poorly defined right-sided pulmonary nodule, and later PET-CT (April 2021) showed a heterogeneous parahilar pulmonary lesion involving the main bronchus with atelectasis, plus multiple cervical, mediastinal, and perigastric lymphadenopathies. Initial outside pathology called adenosquamous carcinoma, but review of trans-thoracic biopsy material (lung and parietal pleura) showed lung parenchyma replaced by a poorly differentiated neoplasm with solid mantles and syncytia, composed of large polygonal/ovoid cells with fine chromatin, prominent nucleoli, and abundant indistinct cytoplasm, in a dense lymphoplasmacytic background—features consistent with pulmonary lymphoepithelioma-like carcinoma (LELC). Immunophenotype: CK AE1/AE3+, CK5/6+, p63+; EBER-ISH nuclear positivity; Napsin A−, TTF-1−, CK7−, excluding conventional adenocarcinoma and supporting LELC. Molecular testing: PD-L1 (SP263) +++ in approximately 100% of tumor cells; no detectable EGFR, KRAS, ALK, or ROS1 alterations. Nasopharyngeal examination was negative, supporting pulmonary origin rather than nasopharyngeal carcinoma. He underwent platinum-based chemotherapy with gemcitabine/cisplatin for six cycles combined with durvalumab; ototoxicity and AKIN I acute kidney injury prompted a switch from cisplatin to carboplatin, with continuation of maintenance durvalumab. The disease progressed (documented December 2021), and he ultimately died of respiratory failure 9 months after diagnosis.", "summary": "We report the case of a 65-year-old man with a pulmonary lymphoepithelioma-like carcinoma, who presented with cough, dyspnea, and weight loss. A chest CT scan showed a poorly defined nodule located in the right lung. A trans-thoracic biopsy of the lesion was performed, and microscopic examination revealed large polygonal cells arranged in sheets, infiltrated by abundant lymphocytes and plasma cells, around the interstitium. The neoplastic cells were positive for cytokeratin 5/6 and p63, and negative for Napsina A and thyroid transcription factor 1 (TTF-1). PD-L1 expression was positive (approximately 100%) by immunohistochemistry; as was the nucleus of the neoplastic cells by in situ hybridization for Epstein-Barr virus-encoded RNA (EBER-ISH). The patient received six cycles of a combination chemotherapy regimen based on platinum (gemcitabine/cisplatin) plus durvalumab. He progressed and ultimately died 9 months after diagnosis.\n" }, { "doc_id": 24, "label": "proficient_health_literacy", "fulltext": "A 13-year-old male patient was admitted to the Children’s Hospital in Damascus after noticing a palpable enlarged mass in the left inguinal region. His medical history was unremarkable except for a surgical intervention on his spine 6 years ago due to an accident, which resulted in the loss of motor function and sensation in both of his lower extremities.\n\nDue to the long period he had spent in bed, the patient developed decubitus sores on his left foot. The only finding on clinical examination was a mass in the left inguinal area, which was movable on deep structures and so was the overlaying skin on it. The mass was not tender on palpation, and no signs of local inflammation were observed.\n\nLaboratory tests revealed an Elevated ESR (119 mm/h in the first hour). Other Basic Laboratory tests including (Complete Blood Count, Liver function tests, electrolytes, Urea, Creatinine and LDH) were ordered and were within normal ranges for age. Ordering these tests was essential to rule out systemic diseases. Given the absence of indicative physical findings for systemic disorders or immunodeficiencies, additional tests like those for HIV or Direct Antiglobulin were deemed unnecessary.\n\nA CT of the abdomen, chest, and pelvis showed enlarged lymph nodes inferior to the inguinal ligament, with the largest measuring approximately (3.5 × 2.4 cm). Other organs and nodes were within normal limits.\n\nAll of the above-mentioned investigations were essential to rule other high-risk diagnosis including lymphoma and leukemia. However, these were not sufficient to reach the definite diagnosis, so a decision of surgical resection of the nodes was taken.\n\nTo confirm the diagnoses and exclude other potential differentials presenting with enlarged lymph nodes, surgical removal of all of these enlarged nodes was performed under general anesthesia, and biopsies were sent for microscopic study.\n\nThe biopsy showed hyperplastic nodal architecture with proliferation of histiocytes and plasma cells with vascular proliferation, consistent with Plasma cell subtype of Castleman’s Disease.\n\nThe patient was discharged from the hospital after 14-day period after ensuring that there were no remaining enlarged lymph nodes. The only recommendation was oral prednisolone. The patient underwent follow-up using a whole-body CT scan every three months. During each hospital visit, a comprehensive clinical examination and laboratory tests (e.g. Complete Blood Test, ESR, C-reactive protein, liver function tests, renal function tests) were performed in addition to the CT scan. After a 12-month follow-up period, the patient reported no new symptoms or enlarged lymph nodes. Additionally, no abnormalities were observed during clinical examination or in laboratory tests.", "diff_label_texts": "A 13-year-old male with a history of spinal surgery 6 years earlier resulting in loss of motor function and sensation in both lower extremities presented with a palpable, mobile, non-tender mass in the left inguinal region and no constitutional symptoms. He had decubitus sores on the left foot. ESR was elevated at 119 mm/h; CBC, liver function tests, electrolytes, urea, creatinine, and LDH were within age-appropriate reference ranges. Given the lack of clinical indicators for systemic disease or immunodeficiency, additional tests (e.g., HIV, direct antiglobulin) were not pursued. CT of the chest, abdomen, and pelvis demonstrated enlarged lymph nodes inferior to the inguinal ligament, the largest measuring approximately 3.5 × 2.4 cm; no other organs or nodal stations were involved. Because lymphoma and leukemia were high-risk differential considerations and the work-up was non-diagnostic, excisional resection of all enlarged inguinal nodes was performed under general anesthesia. Histopathologic examination revealed hyperplastic nodal architecture with proliferation of histiocytes and plasma cells with vascular proliferation, consistent with the plasma cell subtype of Castleman’s disease, confirming unicentric Castleman disease localized to the inguinal region. The patient was discharged 14 days postoperatively with no residual lymphadenopathy; oral prednisolone was recommended. Surveillance with whole-body CT every three months plus interval clinical examinations and laboratory tests (CBC, ESR, C-reactive protein, liver and renal function tests) showed no abnormalities. At 12 months, the patient remained asymptomatic with no new lymphadenopathy. To our knowledge, this represents the first reported case of unicentric Castleman disease occurring in the inguinal area; the plasma cell subtype is among the rarest Castleman variants in children.", "summary": "We report a unique case of a 13-year-old boy who presented with a palpable enlarged mass in the left inguinal region without any constitutional symptoms. Surgical removal of this mass was essential to exclude worrying causes. Pathologic examination revealed proliferative changes consistent with Castleman's disease plasma cell type which is one of the rarest forms of the disease in children. To our knowledge, this case is the first reported case of Unicentric Castleman Disease (UCD) in the inguinal area. During a 12-month-period of follow-up, no additional lymph node enlargements or other symptoms were reported." }, { "doc_id": 25, "label": "low_health_literacy", "fulltext": "The medical records of patients with a diagnosis of congenital myotonia studied and followed in the pediatric neurology consultation in a third-level hospital between 2015 and 2020 were reviewed. The inclusion criteria were to present a clinical diagnosis – myotonia, warm-up phenomenon, characteristic electromyographic pattern and/or family history – and/or a molecular diagnosis (mutation in the CLCN1 gene). The clinical signs and symptoms, as well as the results of the complementary explorations and the genetic mutation found, were collected by reviewing the medical record. Demographic variables (age and sex), course of the disease (age of onset, symptoms and signs, time elapsed until diagnosis and clinical evolution), family history and evaluation of the response to treatment were collected.\n\nFive cases with clinical diagnosis of congenital myotonia were identified (three with Becker's disease and two with Thomsen's disease). The incidence in relation to the number of births was estimated at 1:15,000 newborns for cases with Becker's phenotype and 1:21,000 newborns for Thomsen's phenotypes.\n\nMost of our patients were female, and the male was the only one who started before the age of six. The initial clinical presentation included myotonia in the lower limbs in four of the five patients and in the upper limbs in all but one. The age at onset ranged from 22 months to 12 years, with a median of 6 years. Genetic diagnosis was performed in all cases approximately two years after onset, and the family of one patient refused to have it performed. All had a worsening with cold, but the warming phenomenon was only in those with the Becker phenotype.\n\nPatients with recessive congenital myotonia showed some progression. As a family history, it is worth noting that patients 2 and 3 were sisters, without the parents showing any clinical signs, and that the mother of patient 1 showed mild clinical signs that were doubtful with the cold. The patient who refused the study had a history of myotonia in the maternal branch.\n\nBlood tests did not show elevated creatine kinase in any of the patients. The electromyogram was abnormal in all patients except the first one at 2.8/12 years of age. The test was not repeated later because it was not considered necessary.\n\nThe most used treatment initially was oxcarbazepine (in patients with recessive form), with a good response in general. In case 2 it lost efficacy with time and mexiletine was initiated. Patient 4 initiated several drugs without success due to loss of efficacy or side effects. Patient 5 rejected treatment due to mild clinical presentation.\n\nPatient 1 had a previously undescribed, likely pathogenic mutation (CLCN1: c.824T>C) inherited from his mother. Cases 1 to 3 had the Becker phenotype with composite heterozygosity mutations, and cases 4 and 5 had the Thomsen phenotype. Case 5 declined genetic testing.\n", "diff_label_texts": "Doctors looked back at children’s records from 2015 to 2020 at a large hospital’s nerve clinic. They studied a condition called congenital myotonia. They wrote down age and sex. They noted when symptoms started and how they changed over time. They checked family history. They looked at how treatments worked. They found five children with this condition. Three had the Becker type. Two had the Thomsen type. The Becker type happened in about 1 out of every 15,000 births. The Thomsen type happened in about 1 out of every 21,000 births. They also found a new gene change that likely causes the disease (in a gene called CLCN1: c.824T>C).", "summary": "The medical records of patients with a diagnosis of congenital myotonia studied and followed in the pediatric neurology consultation in a third-level hospital between 2015 and 2020 were reviewed. Demographic variables (age and sex), course of the disease (age of onset, symptoms and signs, time elapsed until diagnosis and clinical evolution), family history and evaluation of the response to treatment were collected. Five cases with a clinical diagnosis of congenital myotonia were identified (three with Becker disease and two with Thomsen disease). The incidence in relation to the number of births was estimated at 1:15,000 newborns for cases with a Becker phenotype and 1:21,000 newborns for Thomsen phenotypes. We found a probably pathogenic mutation not previously described (CLCN1: c.824T>C).\n" }, { "doc_id": 28, "label": "intermediate_health_literacy", "fulltext": "Technique\nInformation about the procedure of TFD.\nThe patient receives intravenous photosensitizer (Photogen®, King of Prussia, PA, USA - 1.5 mg/kg) 24 h before the procedure. Its peak light absorption is at the wavelength of 630 nm. The procedure begins with standard duodenoscopy (Olympus TJF-180) under general anesthesia. After the identification of the greater duodenal papilla and the retrograde cannulation, the digital cholangioscope (SpyGlassTM DS, Boston Scientific, Natick, MA) is introduced into the common bile duct. Then the cholangioscopic examination helps to identify the neoplastic stenosis. Under direct visualization, the illumination catheter (Medlight S.A., RD10-323, Switzerland) is advanced through the cholangioscope. This consists of a typical three-way cannula. The first port has a 1 cm long cylindrical light diffuser at the end. Two black radiopaque marks demarcate the limits of the diffuser. The second port accommodates a 0.025 inch guidewire and the third is a portal for injection. After positioning under cholangioscopic guidance, illumination is initiated. The dose is 90 J/cm², with a power of 70 mW/cm². Repositioning is recommended every centimeter to cover the entire stenosed area. At the end of the procedure, new cholangioscopy evaluates the bile duct for immediate outcome and adverse events.\n\nPost-procedure care\nThe patient is fasted for the next 24 h. If no adverse event is detected, oral diet is initiated. Discharge from hospital is done under strict guidance on photoprotection (prevention of exposure to light and use of sunglasses), especially during the first week after the session of TFD.\n\nRESULTS\nThis procedure was performed in an 82-year-old man who presented to our tertiary center with obstructive jaundice and weight loss over the previous two months. Endoscopic ultrasound (EUS) revealed severe dilation of the common bile duct associated with choledocholithiasis. ERCP confirmed these findings but was unable to remove the stones due to the disproportionate dilation of the common bile duct. Therefore, a plastic biliary stent was chosen. The patient showed improvement in his clinical condition, but the cholestasis returned 45 days after the first procedure. Two other ERCPs failed to remove the stones. During the third procedure, a long irregular stenosis of the common hepatic duct was apparent and he was referred for another echoendoscopic evaluation.\n\nIn addition to the choledocholithiasis, the new EUS revealed a dilated common hepatic duct with a well-circumscribed hypoechoic solid mass measuring 1.8x2 cm, which was compressing the common hepatic duct. The mass appeared to also involve the common hepatic artery. An ultrasound-guided needle biopsy confirmed the diagnosis of moderately differentiated cholangiocarcinoma (Bismuth I).\n\nAfter staging, the mass was considered inoperable and the patient was referred for palliative treatment. After a multidisciplinary meeting with the oncology team, adjunctive PDT was proposed to treat the recurrent biliary obstruction. The procedure went without complications and lasted 150 minutes. At the end, a biliary drainage was performed with a 10 Fr plastic stent, since a self-expanding metal stent was not available at that time.\n\nThe patient showed no signs or symptoms of photosensitivity in the following week. There was, however, early recurrence of cholestasis complicated with cholangitis. ERCP revealed obstruction of the stent with debris and biliary sludge secondary to tumor necrosis. A biliary scan followed by new drainage resolved the patient's acute condition. Subsequently, he remained asymptomatic for three months, the longest period since the onset of the disease. At his next recurrence, he was drained with a self-expanding metal stent. He continued with systemic treatment and eventually required a duodenal stent for palliation of dysphagia. He died due to complications of pulmonary metastases two years after the onset of symptoms and 15 months after the session of TFD.\n", "diff_label_texts": "A light‑sensitizing drug is given by IV 24 hours before the procedure. Under general anesthesia, the doctor performs a standard duodenoscopy, locates the papilla (the bile duct opening), and passes a small tube backward into the bile duct. A digital cholangioscope is then advanced into the common bile duct to directly identify a cancer‑related narrowing. Under direct vision, a light‑delivery catheter is placed through the scope to the stricture. The catheter is moved in 1‑cm steps to treat the entire narrowed segment. At the end, the bile duct is re‑inspected to assess the immediate result and check for complications. Case outcome: An 82‑year‑old man had obstructive jaundice for two months. EUS and ERCP showed marked dilation of the common bile duct with choledocholithiasis. They also found dilation of the hepatic duct due to a well‑defined hypoechoic mass measuring 1.8 × 2 cm compressing the common hepatic duct. The tumor was inoperable, so he received palliative photodynamic therapy. He remained symptom‑free for three months and died of complications 15 months after the PDT session.", "summary": "Patient receives intravenous photosensitizer 24 h before the procedure which begins with regular duodenoscopy. After identification of the main papilla and retrograde cannulation, the digital cholangioscope is introduced into the common bile duct. Then the cholangioscopic examination helps to identify neoplastic stenosis. Under direct visualization, the illumination catheter is advanced through the cholangioscope. Repositioning is done every centimeter. At the end of cholangioscopy, the bile duct is evaluated for immediate outcome and adverse events.\n\nResult: This procedure was performed in an 82-year-old man with obstructive jaundice for the past two months. EUS and ERCP revealed severe dilation of the common bile duct associated with choledocholithiasis. In addition, there was dilation of the hepatic duct to a well-circumscribed hypoechoic solid mass measuring 1.8x2 cm, compressing the common hepatic duct. It was considered inoperable and the patient was referred for palliative treatment with PDT, which remained asymptomatic for three months. He died of complications 15 months after the PDT session.\n" }, { "doc_id": 33, "label": "intermediate_health_literacy", "fulltext": "A 77-year-old male patient presented with a history of moderate cognitive impairment. The patient was admitted to the emergency department for a tonic-clonic seizure at home. The patient presented hemodynamically unstable in the context of a postcritical state and suspected intrapelvic bleeding. The code for a polytraumatized patient was activated, not because of the mechanism of injury, but because of the patient's hemodynamic status. He was stabilized and optimized in the emergency department with intravenous fluid and transfusion of packed red blood cells. A pelvic girdle was placed. Once hemodynamic stability was achieved, a physical examination was performed. Clinically, the patient presented a shortening of the lower limb compared to the contralateral limb, external rotation and joint blockage when performing the log roll test in both limbs. He presented functional impotence in both hips. Given the patient's condition when he arrived at the emergency department, it was not possible to assess the neurological status. He had no signs of external injuries or bruises. Distal pulses were present at the foot level. He could move his upper limbs. A chest and anteroposterior pelvic radiograph was performed as part of the code for a polytraumatized patient, pending completion of an abdominal-pelvic computed tomography (CT) study. A bilateral femoral dislocation was diagnosed in the pelvic radiograph. The patient underwent a procedure to correct the dislocation.\n\n\n\nComputed tomography angiography to rule out vascular lesions given the instability in hemodynamic that presented itself on admission. Vascular lesions were ruled out after the angiography. In the 3D-CT reconstruction of the pelvis, a bilateral transverse acetabular fracture was found, according to the classification of Letournel and a bilateral longitudinal fracture of the iliac wing was found, along with intrapelvic protrusion of both femoral heads. After initial evaluation, supracondylar traction was placed on the femoral head in both extremities and the pelvic traction was removed. The patient was admitted to the recovery unit until surgery, where he remained with the traction supracondylar femoral head in both extremities and the pelvic traction was removed. The patient was operated on the eighth day of admission. In our service, the acetabular fractures were ruled out after seven days waiting for the formation of a fibrosis in the focus of fracture and the decrease of intraoperative bleeding during surgical procedures. It was decided to perform the surgery in two stages due to the long duration of each intervention. Both surgeries were performed with general anaesthesia, tranexamic acid was administered to prevent intraoperative bleeding and decrease blood transfusions in relation to the surgeries; and antibiotic (cefazolin 2 g preoperatively and 1 g of cefazolin every 8 hours postoperatively for 24 hours) as an intrahospital protocol. During the postoperative period, enoxaparin 40 mg was administered subcutaneously every 24 hours for seven weeks. Initially, the surgery of the left hemipelvis was performed since, at the radiographic level, it presented greater pelvic protrusion and it was not desirable that a hematoma in the soft tissue phase could generate complications at the time of extraction of the femoral head (vascular injuries, intraoperative bleeding). The supracondylar traction was removed. The patient was placed in lateral decubitus, and a posterior lateral approach was performed with a Moore's autograft in the acetabular background (fracture focus). Subsequently, the anti-protrusion ring was implanted (Burch SchneiderTM Reinforcement Cage, Zimmer Biomet) anchored to the ischium and ilium. Prior to the implantation of the ring, it was necessary to perform dissection of the gluteal musculature (gluteus minimus and medius) to correctly place the femoral head. The medial ischial fracture of the ring was also anchored with screws. The check was performed under the control of a scope to verify the correct implantation. Subsequently, a double mobility cementaed acetabular ring was implanted and then the non-cemented femoral stem was implanted. After finishing the placement of the components, the capsule and pelvic musculature were closed by means of transosseous trochanteric points. The surgery of the right hemipelvis was performed seven days later. The patient was placed in lateral decubitus. To address the longitudinal fracture of the iliac wing, the first window of the ilio-inguinal approach was performed. It was synthesised with a six-hole anatomical plate. Subsequently, the same procedure as the previous surgery was performed, using an anti-protrusion ring with a double mobility cemented femoral stem and non-cemented femoral stem. This type of anti-protrusion rings are used when there are acetabular fractures that could be equivalent to a pelvic disjunction (type IV classification of acetabular defects of the AAOS) and an anchorage in the ischium and ilium of the ring is needed to support the ring. They are not indicated for isolated fractures of the anterior or posterior wall of the acetabulum where there is no involvement of the acetabular background. During admission, the patient remained in bed and was mobilised to avoid decubitus ulcers. Once the second intervention was performed and when the patient tolerated it clinically, he began to transfer with the use of a wheelchair. In bed he was allowed to have a full range of motion without restriction. The patient was discharged four weeks later and did not begin to load or walk until six weeks. He began to load with the use of a walking stick. We decided to delay loading because, despite the use of arthroplasty as a treatment, it was decided to wait until there was an initial consolidation of the graft in the acetabular background that provided better support for the ring. It was also added that the patient presented bilateral involvement and it would be difficult to start partial loading, given that he did not have a healthy hip to support. During the follow-up of the patient, at 12 months of the intervention he was already doing full load with the use of a walking stick, with a Harris hip score of 79 in the left hip and 77 in the right hip; and a score of 12 on the WOMAC scale. He has not presented any postoperative complications to date. The patient is satisfied clinically, he reports occasional discomfort and a slight limp of the right side. He has a full range of motion in the examination and does not report having had any episode of instability since the surgery.\n", "diff_label_texts": "A 77-year-old man with moderate cognitive impairment had a generalized seizure, which caused both hips to dislocate inward (central dislocation). In the emergency department, his exam showed a shorter right leg compared with the left, outward rotation of both legs, and the hips locked with the log-roll test on both sides. He underwent imaging and medical optimization before surgery. Surgeons staged the operations: the left hip on hospital day 8 and the right hip on day 15. On both sides they implanted an anti-protrusion ring and a dual-mobility acetabular component, along with an uncemented femoral stem. There were no immediate surgical complications. At the 12-month follow-up, he was fully weight-bearing, with Harris Hip Scores of 79 on the left and 77 on the right, and a WOMAC score of 12. He has had no postoperative complications to date.", "summary": "77-year-old patient with a history of moderate cognitive impairment who suffered bilateral central dislocation of the hip in the context of a generalized convulsive seizure. Clinically, upon arrival in the emergency department, the patient presented a shortening of the lower right limb compared to the contralateral limb, external rotation and joint blockage when performing the log roll test in both limbs. Imaging and clinical optimization study was performed prior to surgery. It was performed in two stages: first the left hip on the eighth day of admission and the right hip on the fifteenth. In both surgeries the same procedure was performed by implanting an anti-protrusive ring and prosthesis with double mobility acetabulum with non-cemented femoral stem. In the immediate postoperative period, the patient did not present any complications associated with the surgery. In the 12-month follow-up, the patient performed a full load with a Harris hip score (HHS) of 77 in the right hip and 79 in the left; 12 points in the WOMAC scale. He has not presented any postoperative complications to date.\n" }, { "doc_id": 70, "label": "proficient_health_literacy", "fulltext": "This is a 75-year-old para 6 patient from Western Ethiopia who saw her last menses 25 years back. Her age at giving birth to her 1st child and menopause were 18 and 50 years, respectively. She had occasional pelvic pain for the last 3 years for which she was visiting different health facilities. Currently, she presented to Nekemte Specialized Hospital with exacerbation of lower abdominal pain for 3 weeks. She feels discomfort in her vagina but no protrusion of mass through her vagina. She has no history of fever, abdominal swelling, vaginal discharge, or bleeding. All her previous deliveries were normal vaginal deliveries. Upon enquiring about the history of family planning utilization, she reported that the intrauterine device was inserted 40 years back at a public hospital. Since then, she had no history of gynecologic evaluation for a checkup. She had no history of gynecologic procedures, pelvic or abdominal surgery. The patient has no history of medical problems like diabetes mellitus, hypertension, cardiac or renal problems.\n\nOn examination, she was acutely sick-looking. Her vital signs were blood pressure (BP) = 120/80mmHg, pulse rate (PR) = 82 beats per minute, respiratory rate (RR) = 18 breaths per minute, and temperature of 37.1°C. She had pink conjunctivae. Lymph glandular system, chest, and cardiovascular system were normal. On abdominal examination, there was no mass, organomegaly, area of tenderness, or signs of fluid collection. Inspection of external genitalia showed no vulvar mass or lesion. On speculum examination, there is a foreign body at the external cervical os. However, there is no other cervical mass or lesion. On bimanual examination, the uterus was not enlarged and there was no adnexal mass or tenderness. On the integumentary system, she had no palmar pallor. On neurologic examination, she was oriented to time, person, and place. She had normal reflexes and no neurologic deficits.\n\nOn laboratory investigation, an ultrasound examination was done by a radiologist and showed unremarkable pelvic findings. Urinalysis, complete blood count, and serum blood glucose level were normal. With the final diagnosis of postmenopausal pelvic pain secondary to the retained intrauterine device, the patient was prepared and taken to the gynecology procedure room. In the lithotomy position, the speculum was inserted and the intrauterine device was easily removed with spongy forceps. The mother was observed for 4 hours and discharged with analgesia and doxycycline 100 mg PO twice a day for three days. Upon follow-up, the pelvic pain was resolved.", "diff_label_texts": "A 75-year-old para 6, postmenopausal woman from Western Ethiopia (last menses 25 years prior; age at first birth 18 years; menopause at 50 years) presented to Nekemte Specialized Hospital with a 3-week exacerbation of chronic pelvic pain present for 3 years. She described vaginal discomfort without a protruding mass and denied fever, abdominal distension, vaginal discharge, or bleeding. She reported an intrauterine device inserted 40 years earlier at a public hospital and no subsequent gynecologic follow-up; there was no history of gynecologic procedures, pelvic/abdominal surgery, or chronic medical illness (no diabetes mellitus, hypertension, cardiac, or renal disease). On examination, she was acutely sick-appearing but hemodynamically stable: BP 120/80 mmHg, PR 82 bpm, RR 18 breaths/min, Temp 37.1°C. Conjunctivae were pink; lymphatic, chest, and cardiovascular exams were normal. Abdomen: no masses, organomegaly, tenderness, or fluid wave. External genitalia were normal. Speculum exam revealed a foreign body consistent with a retained Lippes loop IUD visible at the external cervical os; no other cervical lesions were noted. Bimanual exam: uterus not enlarged; no adnexal mass or tenderness. Skin showed no palmar pallor. Neurologic exam: oriented with normal reflexes and no focal deficits. Investigations included a pelvic ultrasound read as unremarkable; urinalysis, CBC, and serum glucose were normal. Working diagnosis was postmenopausal pelvic pain secondary to retained intrauterine device. In the lithotomy position, a speculum was placed and the IUD was easily removed with spongy forceps. She was observed for 4 hours and discharged on analgesia and doxycycline 100 mg PO twice daily for 3 days. At follow-up, pelvic pain had resolved. Context: The Lippes loop is an older inert plastic IUD; prolonged retention can present with pelvic pain, but in this case there was no evidence of perforation, infection, or adnexal pathology on exam or ultrasound.", "summary": "We present the case of retained Lippes loop IUD for 40 years in a 75-year-old postmenopausal patient from Western Ethiopia. The patient presented to the hospital with postmenopausal pelvic pain. Speculum exam showed part of loop at external cervical os. The loop was easily removed with spongy forceps. The patient was discharged with analgesia and doxycycline twice a day for 3 days." }, { "doc_id": 74, "label": "low_health_literacy", "fulltext": "A 56-year-old Italian female patient with β-thalassemia major presented to the radiology department to undergo MRI to quantify myocardial, hepatic, and pancreatic iron deposition. The clinical history of the patient included a transfusion-dependent β-thalassemia condition (genotype HBB:c.118C > T/ HBB:c.93-21G > A), diagnosed at the age of 7 years, despite the fact that the first transfusion was carried out at 2 years. As a consequence of β-thalassemia, the patient underwent splenectomy and cholecystectomy.\n\nAt the moment of MRI, she had a negative HCV-RNA (Hepatitis C virus-Ribonucleic acid) test, no osteoporosis or other endocrine, cardiac, or hepatic complications, and good iron levels. The patient’s therapy included iron chelation with deferasirox, vitamin D, and luspatercept, an erythropoiesis modulator started 2 years before the MRI examination (good response, with an increase of about 35% of transfusion interval duration). Transfusion therapy included two units of concentrated and filtered red blood cells every 25 days with pre-transfusion hemoglobin values of 10–10.5 g/dl.\n\nOn MRI, a solid mass with lobulated and regular contours was incidentally identified within the prevascular compartment of the mediastinum.\n\nThe lesion was mildly hyperintense on T2-weighted images (T2-wi) and isointense on T1-wi. The mediastinal mass in question was discernible in a prior MRI examination conducted for the same purpose in 2020 before starting luspatercept therapy, albeit with a marginal enlargement.\n\nThere were no other apparent abnormalities observed in the remaining mediastinal compartments. No pleural or pericardial effusions were present.\n\nThe neurological examination was unremarkable, and in the preceding months, the patient exhibited no symptoms of mediastinal syndrome associated with compression of the adjacent neurovascular structures. Moreover, she did not exhibit any fever or experience any weight loss.\n\nFor further evaluation, the patient underwent 18F-deoxyglucose (18FDG) positron emission tomography (PET)-computed tomography (CT) and chest CT with contrast media. On PET-CT, the mediastinal mass showed only mild FDG uptake (SUVmax = 4.3); no other sites of abnormal radiotracer uptake were reported in the neck, chest, abdomen, and skeleton. On CT images, the lesion presented regular margins, solid density, and mild contrast enhancement. The adjacent structures did not exhibit any signs of invasion, and lymphadenopathies or extra-thoracic disease were not present. Such radiological features, the indolent behaviour over time, the absence of systemic symptoms, and the lack of avid FDG uptake on PET-CT scan made the diagnosis of thymoma probable.\n\nHowever, on lung window visualization, multiple rounded areas of parenchymal lucency, consistent with thin-walled cysts distributed symmetrically throughout both lungs, with normal intervening parenchyma, were evident.\n\nNo nodules or other interstitial abnormalities were associated with the cysts. No pneumothorax was detected. Coherently with thalassemic bone disease, the ribs appeared widened, and the spine displayed mild platyspondyly. The remaining portion of the chest and visible upper abdomen were unremarkable. The radiological findings were consistent with cystic lung disease, most likely LAM.\n\nThe patient was then referred to the pulmonary clinic for further evaluation. She was a never-smoker and did not report any respiratory symptoms. In particular, she denied a history of chronic cough, recurrent respiratory infections, or pneumothorax. No cutaneous lesions, notably facial fibrofolliculomas, were evident. On chest examination, the lung fields were clear. Peripheral capillary oxygen saturation was normal (98%), with a heart rate of 75 beats per minute. Pulmonary function tests revealed a substantial reduction in diffusing capacity of the lungs for carbon monoxide (DLCO; 42% of the predicted value), partly imputable to the condition of anemia, with a carbon monoxide transfer coefficient (KCO) of 73% of the predicted value. After discussion in a multidisciplinary tumor board setting, including a pulmonologist, the patient underwent left thoracoscopic thymectomy and concomitant lingual segment wedge resection. The histopathological report revealed a morphological finding and immunohistochemical pattern referable to type B2 thymoma with focal infiltration of the capsule. Extracapsular extension was not evident. However, the lesion was present at the resection margin (stage IIa according to Masaoka–Koga; stage 1a according to the tumor, node, metastasis [TNM] classification).\n\nRegarding the lung parenchyma, histopathologic analysis described lung parenchyma with cysts of variable size lined by spindle cells in myoid habit with immunohistochemical reactivity for actin, estrogen, progesterone receptors, and HMB45 (focal positivity). Modest chronic interstitial inflammation, vascular congestion, and recent blood extravasation were evident. These morphological findings were compatible with pulmonary LAM.\n\nA final histological diagnosis of thymoma and pulmonary LAM was made. For the neoplastic condition, the patient was a candidate for adjuvant radiation therapy due to the microscopically incomplete resection (R1). For LAM with concomitant β-thalassemia, treatment with sirolimus was recommended.", "diff_label_texts": "A 56-year-old Italian woman has a serious inherited blood problem that needs regular transfusions. She had an MRI to check iron in her heart, liver, and pancreas. At that time, her heart, liver, and hormone health were okay. She was taking an iron-removing medicine, vitamin D, and a medicine that helps her body make red blood cells. The MRI also spotted a lump in the middle of her chest, in front of the heart, where the thymus sits. A PET scan showed the lump was only a little active. A chest CT showed many thin-walled air pockets like bubbles in both lungs. This pattern fits a rare lung disease called LAM. A team of doctors reviewed her case. She had keyhole surgery to remove the thymus lump and a small wedge of lung. Lab tests showed the chest lump was a thymus tumor called thymoma. The lung tissue showed LAM. After surgery, her doctors advised radiation to the chest area and a medicine called sirolimus for LAM.", "summary": "A 56-year-old Italian female patient with β-thalassemia major underwent magnetic resonance imaging to quantify myocardial, hepatic, and pancreatic iron deposition. Her medical history included transfusion-dependent β-thalassemia, splenectomy, and cholecystectomy. At the time of magnetic resonance imaging, she had no significant endocrine, cardiac, or hepatic complications and was on deferasirox, vitamin D, and luspatercept. Magnetic resonance imaging revealed a lobulated mass in the prevascular mediastinum, which showed mild radiotracer uptake on positron emission tomography. Chest computed tomography revealed multiple thin-walled cysts in the lungs, indicating lymphangioleiomyomatosis. Following multidisciplinary evaluation, the patient underwent thoracoscopic thymectomy and lung wedge resection. Histopathology confirmed type B2 thymoma and pulmonary lymphangioleiomyomatosis. Post-surgery, the patient was recommended for adjuvant radiation therapy and sirolimus treatment." }, { "doc_id": 23, "label": "intermediate_health_literacy", "fulltext": "65-year-old male with no personal or family history of pathology of relevance. His condition began in 2020 with productive cough that intensified and was accompanied by shortness of breath with small to medium effort; as well as loss of 10 kg of weight in a period of 4 months. He went to a doctor who requested a chest X-ray that showed massive, multilocular right pleural effusion with right bronchial obstruction and mediastinal lymphadenopathy. A thoracocentesis was performed with a biopsy of the right lung and parietal pleura. The histopathological study reported an adeno-squamous carcinoma. His evolution was bad, which is why he was referred to our institution. On admission, a physical examination found him cachectic, with right pulmonary hypoventilation, 92% oxygen saturation and pneumokoccal dysfunction, with no evidence of systemic or haemodynamic compromise. A chest X-ray was performed that showed complete opacity of the right hemithorax, and a pleural catheter was placed with a serohematic flow. In the histopathological study of the revision material, the lung parenchyma was replaced by a poorly differentiated neoplasm with a solid mantle and syncytia, surrounded by abundant lymphocytes and plasma cells. The neoplastic cells had large, ovoid nuclei, fine chromatin, prominent nucleolus and wide, poorly defined cytoplasm. An immunohistochemical study was performed that was positive for CKAE1/AE3, CK 5/6, p63, EBER ISH, and negative for Napsina A, TTF-1 and CK 7, which ruled out the reference diagnosis of adeno-squamous carcinoma and established the diagnosis of CTLP. Molecular study in the paraffin block was positive for PD-L1 (SP263) +++ in approximately 100% of the neoplastic cells, and negative for EGFR, K-RAS, ALK, ROS1. In order to confirm the pulmonary origin of the neoplasm, a nasopharyngeal examination was performed that was negative. In April 2021, a PET-CT was performed that reported a heterogeneous parahilary pulmonary lesion that compromised the main bronchus and caused atelectasis; as well as multiple cervical, mediastinal and peri-gastric lymphadenopathies. The catheter was removed due to partial resolution of the effusion and chemotherapy treatment with gemcitabine/cisplatin was initiated. He received 6 cycles, however, the patient reported hearing loss and AKIN I acute renal failure was documented, so cisplatin was changed to carboplatin, and maintenance durvalumab was continued. In December 2021, disease progression was documented and he died in January 2022 due to respiratory failure.\n", "diff_label_texts": "A 65-year-old man presented with cough, shortness of breath, and weight loss. Chest CT showed a poorly defined nodule in the right lung. A trans-thoracic biopsy confirmed a pulmonary lymphoepithelioma-like carcinoma: large polygonal tumor cells arranged in sheets with abundant lymphocytes and plasma cells. Immunohistochemistry supported this diagnosis (cytokeratin 5/6 and p63 positive; Napsin A and TTF-1 negative). PD-L1 expression was very high (about 100%), and the tumor cells were positive for Epstein–Barr virus by EBER in situ hybridization. To confirm the lung as the primary site, a nasopharyngeal exam was negative. Additional testing from the case showed no EGFR, KRAS, ALK, or ROS1 alterations. Imaging later showed a right perihilar lesion with nodal disease. He received platinum-based chemotherapy (gemcitabine/cisplatin) with durvalumab; cisplatin was later changed to carboplatin because of side effects. Despite treatment, the disease progressed, and he died 9 months after diagnosis.", "summary": "We report the case of a 65-year-old man with a pulmonary lymphoepithelioma-like carcinoma, who presented with cough, dyspnea, and weight loss. A chest CT scan showed a poorly defined nodule located in the right lung. A trans-thoracic biopsy of the lesion was performed, and microscopic examination revealed large polygonal cells arranged in sheets, infiltrated by abundant lymphocytes and plasma cells, around the interstitium. The neoplastic cells were positive for cytokeratin 5/6 and p63, and negative for Napsina A and thyroid transcription factor 1 (TTF-1). PD-L1 expression was positive (approximately 100%) by immunohistochemistry; as was the nucleus of the neoplastic cells by in situ hybridization for Epstein-Barr virus-encoded RNA (EBER-ISH). The patient received six cycles of a combination chemotherapy regimen based on platinum (gemcitabine/cisplatin) plus durvalumab. He progressed and ultimately died 9 months after diagnosis.\n" }, { "doc_id": 25, "label": "intermediate_health_literacy", "fulltext": "The medical records of patients with a diagnosis of congenital myotonia studied and followed in the pediatric neurology consultation in a third-level hospital between 2015 and 2020 were reviewed. The inclusion criteria were to present a clinical diagnosis – myotonia, warm-up phenomenon, characteristic electromyographic pattern and/or family history – and/or a molecular diagnosis (mutation in the CLCN1 gene). The clinical signs and symptoms, as well as the results of the complementary explorations and the genetic mutation found, were collected by reviewing the medical record. Demographic variables (age and sex), course of the disease (age of onset, symptoms and signs, time elapsed until diagnosis and clinical evolution), family history and evaluation of the response to treatment were collected.\n\nFive cases with clinical diagnosis of congenital myotonia were identified (three with Becker's disease and two with Thomsen's disease). The incidence in relation to the number of births was estimated at 1:15,000 newborns for cases with Becker's phenotype and 1:21,000 newborns for Thomsen's phenotypes.\n\nMost of our patients were female, and the male was the only one who started before the age of six. The initial clinical presentation included myotonia in the lower limbs in four of the five patients and in the upper limbs in all but one. The age at onset ranged from 22 months to 12 years, with a median of 6 years. Genetic diagnosis was performed in all cases approximately two years after onset, and the family of one patient refused to have it performed. All had a worsening with cold, but the warming phenomenon was only in those with the Becker phenotype.\n\nPatients with recessive congenital myotonia showed some progression. As a family history, it is worth noting that patients 2 and 3 were sisters, without the parents showing any clinical signs, and that the mother of patient 1 showed mild clinical signs that were doubtful with the cold. The patient who refused the study had a history of myotonia in the maternal branch.\n\nBlood tests did not show elevated creatine kinase in any of the patients. The electromyogram was abnormal in all patients except the first one at 2.8/12 years of age. The test was not repeated later because it was not considered necessary.\n\nThe most used treatment initially was oxcarbazepine (in patients with recessive form), with a good response in general. In case 2 it lost efficacy with time and mexiletine was initiated. Patient 4 initiated several drugs without success due to loss of efficacy or side effects. Patient 5 rejected treatment due to mild clinical presentation.\n\nPatient 1 had a previously undescribed, likely pathogenic mutation (CLCN1: c.824T>C) inherited from his mother. Cases 1 to 3 had the Becker phenotype with composite heterozygosity mutations, and cases 4 and 5 had the Thomsen phenotype. Case 5 declined genetic testing.\n", "diff_label_texts": "Researchers reviewed pediatric neurology records from a tertiary hospital (2015–2020) to study congenital myotonia. Patients were included based on clinical features (myotonia, a warm‑up phenomenon, a characteristic EMG pattern, and/or family history) and/or a molecular finding in the CLCN1 gene. They collected demographics (age, sex), details on disease onset and symptoms, time to diagnosis and clinical course, family history, and response to treatment. Five cases were identified: three with the Becker type and two with the Thomsen type. Using local birth numbers, they estimated an incidence of about 1 in 15,000 births for Becker and 1 in 21,000 for Thomsen. They also identified a previously unreported CLCN1 gene variant (c.824T>C) that is likely disease‑causing.", "summary": "The medical records of patients with a diagnosis of congenital myotonia studied and followed in the pediatric neurology consultation in a third-level hospital between 2015 and 2020 were reviewed. Demographic variables (age and sex), course of the disease (age of onset, symptoms and signs, time elapsed until diagnosis and clinical evolution), family history and evaluation of the response to treatment were collected. Five cases with a clinical diagnosis of congenital myotonia were identified (three with Becker disease and two with Thomsen disease). The incidence in relation to the number of births was estimated at 1:15,000 newborns for cases with a Becker phenotype and 1:21,000 newborns for Thomsen phenotypes. We found a probably pathogenic mutation not previously described (CLCN1: c.824T>C).\n" }, { "doc_id": 29, "label": "low_health_literacy", "fulltext": "A 77-year-old woman with haematemesis presented to the emergency room. Her medical history included only hypertension and dyslipidaemia. When she presented to the emergency room, her vital signs indicated shock (heart rate: 100 beats/min, blood pressure: 79/56 mmHg), and blood tests revealed anaemia (haemoglobin: 9.6 g/dL), which suggested upper gastrointestinal bleeding.\n\nNon-contrast-enhanced CT was performed immediately because of renal dysfunction. CT revealed that the third part of the duodenum flexed steeply on the right side of the aorta and ran caudally, without crossing anterior to the aorta. The jejunum was located on the patient’s right side. The second part of the duodenum and the stomach were dilated, and there were high-density gastric contents that were considered to indicate a haematoma.\n\nUpper gastrointestinal endoscopy was performed following the CT examination, which revealed a mucosal laceration at the gastric cardia. Bleeding from lacerations of the cardia of the stomach as a result of forceful vomiting was first reported by Mallory and Weiss in 1929.1 In our case, the third part of the duodenum flexed steeply, and the lumen was narrowed, which caused an obstruction. As a result, repeat vomiting was considered to have caused Mallory–Weiss syndrome.\n\nOn the basis of the CT findings showing that the duodenal-jejunal junction was located in the right hemi-abdomen, intestinal malrotation was suspected.2 However, 7 days later, when CT was repeated, spontaneous resolution of the malpositioned jejunum was seen. The patient was then discharged from the hospital. However, months later, she was rushed to the emergency room for repeat haematemesis. Dynamic CT was performed before upper gastrointestinal endoscopy, on admission, and revealed contrast extravasation in the dilated stomach. Additionally, the third part of the duodenum was flexed on the right side of the aorta, and the duodenal-jejunal junction and jejunum were again located in the right hemi-abdomen. Upper gastrointestinal endoscopy revealed a laceration at the gastric cardia, as in the previous endoscopy, which was considered Mallory–Weiss syndrome.\n\nTwo months after the second episode of haematemesis, the patient presented to the emergency room with nausea. Non-contrast-enhanced CT revealed no abnormalities in the duodenal positioning, but there was oedematous wall thickening in the second part of the duodenum. If we had not had previous CT images, we would have suspected duodenitis, but on the basis of all of the CT findings, we suspected the possibility of an underlying condition after the right-sided deviation of the small intestine had resolved spontaneously.\n\nIn summary, CT was performed 4 times over 5 months. The third and fourth parts of the duodenum and the jejunum deviated repeatedly, but this resolved spontaneously, which is not indicative of intestinal malrotation. Therefore, we diagnosed dysplasia of the ligament of Treitz.\n\nClinical outcomes\nThe patient underwent laparotomy, which revealed no abnormalities in the relative position of the duodenum to the jejunum. Additionally, the jejunum was located on the patient’s left side, and there was no intestinal malrotation. The ligament of Treitz was formed; however, its fixation in the upper jejunum was incomplete as it was attached only to the duodenum. The duodenal-jejunal junction was not fixed to the retroperitoneum, and the jejunum folded easily with the ligament of Treitz as a fulcrum. Surgically, the upper jejunum was fixed with 4 sutures to the retroperitoneum on the patient’s left side. The postoperative course was good, and the patient has remained symptom-free.", "diff_label_texts": "A 77-year-old woman came to the hospital because she threw up blood. A belly scan (CT) was done. It showed the first part of her small intestine bent sharply on the right side of the body’s main artery and went downward. It did not cross in front of that artery. The meeting point between the first and middle parts of the small intestine was on her right side. The middle part of the small intestine was also on her right side. A camera test of her stomach showed a tear at the top of the stomach where it meets the food pipe. This is called a Mallory–Weiss tear. A week later, another CT showed the intestines moved back to a normal spot by themselves. Two months later, she threw up blood again. The CT again showed that the meeting point and the middle small intestine had slid to the right. The camera test again showed a tear in the same spot. At first, doctors thought she might have been born with her intestines in the wrong place. But because the intestines kept sliding to the right and then moving back on their own, the problem was a weak support band called the ligament of Treitz. Surgery showed the band was there but not firmly attached to the upper small intestine. The scan also showed a nearby tissue space was loose and could move. These issues likely let the small intestine slide to the right.", "summary": "A 77-year-old woman underwent CT to evaluate haematemesis. The images showed that the third part of the duodenum flexed steeply on the right side of the aorta and ran caudally, without crossing anterior to the aorta. The duodenal-jejunal junction and jejunum were located on the patient's right side. Upper gastrointestinal endoscopy revealed a laceration at the gastric cardia, and a diagnosis of Mallory-Weiss syndrome was made. Repeat CT 7 days later revealed that the abnormal positioning of the intestinal tract had resolved spontaneously. Two months later, the patient experienced another episode of haematemesis, and CT revealed repeat deviation of the duodenal-jejunal junction and jejunum to her right side. Upper gastrointestinal endoscopy revealed another laceration at the gastric cardia, as in the previous study. On the basis of the initial CT findings showing the duodenal-jejunal junction in the right hemi-abdomen, intestinal malrotation was suspected. However, because the jejunum deviated repeatedly to the right side but resolved spontaneously, we diagnosed dysplasia of the ligament of Treitz. Laparotomy revealed a formed ligament of Treitz; however, fixation in the upper jejunum was incomplete. Additionally, CT revealed that the anterior pararenal space was loosely fixed and mobile. These factors may have caused the right-sided deviation of the small intestine." }, { "doc_id": 35, "label": "intermediate_health_literacy", "fulltext": "The patient was a 4-month-old male from central Mexico with two healthy male siblings. His mother was hypothyroid during the first trimester of pregnancy and took drugs. The infant was born with normal weight and size, was breast-fed, and received the BCG vaccine with no scarring. The mother of the patient was a prisoner in a jail cell with the infant in a crowded cell with two others.At 4 months, the patient was medically evaluated for a painful tumor in the left axilla. A chest X-ray showed suggestive images of rib fractures; the mother was suspected of child abuse, and the infant was admitted to a pediatric hospital. The infant was weighed (4,190 g) and measured (58 cm) below the third percentile, oxygen saturation of 70%, fever, cough, increased volume in the left axilla, and pain, redness, and warmth. The blood count showed: hemoglobin of 8.8 g/dL (11.0-12.6), 29.3 × 109 leukocytes/L (6.0-17.5), 18.4 × 109 neutrophils/L (1.0-8.5), 7.0 × 109 lymphocytes/L (4.0-13.5), 3.5 × 109 monocytes/L, 459 × 109 platelets/L (150-350), and C-reactive protein of 16 mg/L (< 3.0). The first thoracoabdominal tomography showed an abscess in the left axilla, lytic lesions in ribs 3-6, left apical pneumonia, pulmonary nodules in both lungs, and enlarged cervical and mediastinal lymph nodes. The biopsy of the left axilla abscess reported myositis and suppurative panniculitis. Only the culture for bacteria from the bronchoalveolar liquid was negative, and the PCR for the Mycobacterium tuberculosis complex was negative. After 41 days of hospitalization and receiving two antimicrobial regimens of ceftriaxone-clindamycin and cefepime-vancomycin, the patient was discharged.\n\nTwo months later, at eight months of age, he was readmitted to hospital with a fever, irritability and a suppurating abscess in the left scapula. The blood count showed haemoglobin of 10.8 g/dl (10.5-12), 21.2 × 109 leukocytes/L (6-17), 12.2 × 109 neutrophils/L (1.5-8.5), 7.5 × 109 lymphocytes/L (4-10.5), 1.2 × 109 monocytes/L (600), and 583 × 109 platelets/L (150-350); the serum test for HIV was negative. A left apical consolidation, bronchiectasis, lytic lesions in ribs 2-7 and dorsal vertebrae 2-7, and a multilocular fluid collection were observed on a chest scan; ultrasound showed a fistula associated with the scapular abscess. The patient received piperacillin-tazobactam, which was later replaced with voriconazole after Aspergillus fumigatus was detected in the secretion sample culture. Given the recurrence and severity of the infection, an innate immunity defect was suspected. The dihydrorhodamine test showed no production of reactive oxygen species and the gp91phox expression in neutrophils was absent, establishing a diagnosis of X-linked chronic granulomatous disease. The pathogenic variant detected by next-generation sequencing was c.80_83del/Y (p.Val27Glyfs*33) in CYBB. The mother was a carrier of the variant (c.80_83del/WT). The two older male siblings, who were apparently healthy, could not be genetically tested. The patient was discharged after 65 days of hospitalisation and 28 days of voriconazole treatment. Daily antibiotic prophylaxis with trimethoprim-sulfamethoxazole and antifungal prophylaxis with fluconazole twice a week were initiated. Two months later, at one year of age, the infant was readmitted due to multifocal pneumonia, for which mechanical respiratory assistance was required. The galactomannan antigen was detected in the serum and A. fumigatus was detected in the culture of the lavage fluid, so treatment with voriconazole was initiated again. The patient suffered a multiple organ failure and died one month after admission.\n", "diff_label_texts": "This case describes a 4‑month‑old boy who lived with his mother in a crowded prison cell and developed a painful mass in his left armpit. Initial imaging raised concern for rib fractures, so he was hospitalized for possible child abuse. Imaging also showed an axillary abscess, rib damage, pneumonia, and small nodules in both lungs. He received broad‑spectrum antibiotics and was discharged. At 8 months, he returned with fever and an enlarging, pus‑draining abscess extending toward the left shoulder. Imaging showed progression. Culture of the abscess grew Aspergillus fumigatus, confirming invasive aspergillosis, and he was treated with 28 days of voriconazole. Because the infection was severe and recurrent, doctors tested his innate immune function. A dihydrorhodamine assay showed a defect consistent with chronic granulomatous disease (CGD). Genetic testing identified an X‑linked CYBB pathogenic variant (c.80_83del/Y); his mother was a carrier (c.80_83del/WT). At 12 months, he was readmitted with recurrent invasive aspergillosis that did not respond to treatment and he died.", "summary": "A case of infant with chronic granulomatous disease and invasive aspergillosis is reported. The infant was a 4-month-old male infant living with his mother in a prison cell. The infant had tumors in the left axillary region and a chest X-ray suggested rib fractures; he was hospitalized on suspicion of child abuse. A chest X-ray showed an axillary abscess, osteolysis of ribs, pneumonia and pulmonary nodules; the patient received broad spectrum antibiotics and was discharged. At 8 months, he was readmitted with fever and extension of the purulent abscess to the left shoulder region; a chest X-ray showed worsening of the condition. Aspergillus fumigatus was isolated from the secretion of the abscess and invasive aspergillosis was diagnosed; voriconazole was initiated for 28 days. A dihydro rhodamine test was performed and a diagnosis of chronic granulomatous disease caused by the pathogenic variant c.80_83del/Y of the CYBB gene, carried by the mother (c.80_83del/WT), was made. At 12 months, the patient was readmitted with invasive aspergillosis, resistant to treatment, with fatal outcome.\n" }, { "doc_id": 37, "label": "intermediate_health_literacy", "fulltext": "A 29-year-old woman, Para 1, with abnormal vaginal bleeding of one-month duration presented to the gynecology outpatient department of a level 2 hospital. She was HIV positive, commenced on antiretroviral treatment following diagnosis, but had defaulted the antiretroviral treatment for one month when she became ill with vaginal bleeding, resulting in virological and immunological failures (viral load 37400 copies/mL and CD4 count 26 cells/μL). Of note, it was unclear when the patient first started showing HIV symptoms. However, she was diagnosed with HIV about a year prior to presentation. Physical examination revealed a large mass on the cervix measuring 8 × 8 cm extending to the parametrium and to the pelvic side walls bilaterally. There was bleeding on contact and foul-smelling vaginal discharge. Ultrasonography detected a bulky cervix and bilateral hydronephrosis. The patient was clinically diagnosed with cervical malignancy stage 3B. She was recommenced on antiretroviral therapy with a treatment change from TLD (Tenofovir-Lamivudine-Dolutegravir combination) to a preferable renal friendly regimen (Lamivudine-Abacavir-Dolutegravir combination). A punch biopsy of the cervix was performed, and the histopathological report revealed the diagnosis of an extra-nodal BL. The immunohistochemical and in situ hybridization confirmed the diagnosis, with CD20, CD75a, CD10, PAX5 and Bcl-6 positive. In addition, the CD44 and c-Myc were positive, with the EBER-ISH demonstrating focal positivity. The Ki67 demonstrated a proliferation index of almost 100% and PAX5 moderately positive BCL6. She had white cell count of 2.67 x109/L, haemoglobin of 5.7g/dl and platelet count of 71 × 109/L. Results of other investigations were serum creatinine 187 mmol/L, urea 11.1 mmol/l, albumin 21 g/l, aspartate transaminase 41 U/l and alkaline phosphatase 100 U/l.\n\nFollowing histological confirmation of the diagnosis and review at an oncology multidisciplinary meeting, she spent 43 days waiting to start treatment at oncology unit. The delay was due to long waiting list. This delay exceeded the 48 hours waiting period during which oncological treatment for BL should commence following diagnosis. The treatment plan was chemo-radiation therapy, and the patient gave written informed consent for the case to be published. However, she demised in the gynaecological ward on the 43rd day while waiting to start the treatment. During the 43 days, further imaging could not be performed due to poor functionality of the available CT and MRI machines. In addition to antiretroviral therapy, the patient received other supportive care such as blood transfusion and analgesia. Again, the number of days between the diagnosis of the BL and her death was 43 days. Histopathological postmortem was not performed as the diagnoses (BL and retroviral disease) were known. We reckon that the main primary cause of death is challenging to assign because of the multiple principal diagnoses. Because BL has rapid progression and high mortality rate in persons living with HIV particularly with high viral load, the attending physician certifying the death assigned BL as the most likely cause of death. However, the secondary cause of death was multiple organ failure (renal and haematological inclusive).", "diff_label_texts": "A 29-year-old woman (Para 1) with HIV presented with one month of abnormal vaginal bleeding. She had defaulted antiretroviral therapy before this illness and on presentation had a very low CD4 count (26 cells/µL) and a high viral load. Examination and ultrasound found an 8 × 8 cm cervical mass with pelvic side wall involvement and bilateral hydronephrosis, and she was clinically staged as FIGO 3B. A cervical punch biopsy confirmed an extranodal Burkitt lymphoma (BL); immunohistochemistry showed B‑cell markers and a very high tumor proliferation rate, with focal Epstein–Barr virus (EBV) positivity. Blood tests showed severe anemia (hemoglobin 5.7 g/dL), low platelets (71 ×10^9/L), low white cell count (2.67 ×10^9/L), and impaired kidney function. The oncology multidisciplinary team recommended chemoradiation, and she was restarted on antiretroviral therapy with a renal‑friendly regimen and given supportive care (blood transfusion, pain relief). There was a long delay to start oncologic treatment because of a waiting list and limited imaging availability; she died in the ward 43 days after diagnosis without receiving the planned chemoradiation. The treating physician attributed the most likely primary cause of death to rapidly progressive BL, with multiple organ failure (including kidney and blood‑related failure) as contributing causes.", "summary": "The patient was a 29-year-old woman, Para 1, with abnormal vaginal bleeding for a month and living with HIV and had a CD4 of 26 cells/μL. The histological examination of the cervical biopsy confirmed an extra-nodal BL. She had International Federation of Gynecology and Obstetrics (FIGO) stage 3B cervical cancer based on presence of hydronephrosis and pelvic wall involvement. The patient was reviewed at the oncology multidisciplinary meeting and required chemoradiation. There was delay in her management due to a long waiting list for chemoradiation at oncology unit in the referral center and the patient demised 43 days after diagnosis and did not receive the treatment." }, { "doc_id": 38, "label": "low_health_literacy", "fulltext": "A 56-year-old female patient presented with complaints of dyspnea that required oxygen supplementation. Her medical history dates back to July 2013 when she was hospitalized in the chest ward for dyspnea and cough with yellow sputum. She was subsequently diagnosed with Sjogren’s syndrome complicated with interstitial lung disease (ILD) and PAH (Table I). Her chest X-ray at that time showed vascular markings with interstitial thickening, costophrenic (CP) angle blunting and cardiomegaly. An echocardiogram revealed a pulmonary arterial (PA) systolic pressure of 99 mmHg, enlargement of the right atrium and ventricle, D-shaped left ventricle (LV), and severe tricuspid regurgitation. Chest CNYCT showed no filling defects, excluding pulmonary embolism; it also displayed an enlarged pulmonary trunk, right atrium (RA), and right ventricle (RV), further evidencing pulmonary hypertension. Symptoms of dry mouth, dry eyes, and cracked tongue mucosa, with a Schirmer’s test showing <5 cm, oculus uterque (OU). A positive minor salivary gland biopsy, nuclear medicine scan showing impaired salivary gland function, and a positive anti-Ro test, confirmed Sjogren’s syndrome. She started on Revatio (Sildenafil) 20 mg three times a day (TID) for pulmonary hypertension control, adding Tracleer (Bosentan) in 2016 due to disease progression. A right heart catheterization (RHC) revealed a mean pulmonary arterial pressure (PAP) of 39 mmHg, pulmonary vascular resistance (PVR) nearly 15 Woods, and a wedge pressure of 4, indicating pre-capillary type, group I, CTD-related PAH in 2017. The right heart catheterization (RHC) report allowed for insurance coverage of Opsumit (Macitentan) 10 mg once a day (QD), replacing Tracleer (Bosentan) in 2017. From 2017 to 2020, she was hospitalized multiple times for steroid treatments to manage her underlying Sjogren’s syndrome.\n\nPulmonary hypertension treatment is risk-based, and until 2017, the patient was considered low to intermediate risk, controlled with two medications (Sildenafil + Macitentan). Her condition remained stable until October 2020, when she experienced worsened dyspnea accompanied by cough and expectoration of white sputum, suggestive of infection. On November 10, 2020, the patient experienced severe dyspnea, cold sweats, and cyanosis, with SpO2 dropping to 70%, necessitating 100% O2 via face tent. Blood gas and lab tests revealed a lactate level of 5.2 mmol/l and brain natriuretic peptide (BNP) over 10,000 pg/ml, strongly suggesting cardiogenic shock. She was prepped for intensive care unit (ICU) admission, intubated, and initiated on four pulmonary hypertension medications. Her condition stabilized and showed improvement, preventing further deterioration. On November 12, 2020, evaluation for heart-lung transplantation began. Her condition continued to improve with off vasopressors on November 13, 2020, and extubating on November 14, 2020, and transferred to a general ward on November 21, 2020, with O2 tapered to nasal cannula 2l/min. A follow-up RHC continued to show elevated pulmonary artery pressure, likely attributed to chronic hypertension leading to right heart strain and eventual failure. After intensive care unit (ICU) treatment, she was referred to National Taiwan University Hospital for evaluation for heart-lung transplant.\n\nReviewing the records since the onset of her illness, it was evident that pulmonary artery pressure had steadily increased, and the distance covered in the 6-minute walk test was progressively shortened. Currently, the patient is classified as high risk. She continues regular hospitalizations for control. Despite the relatively stable condition, her chief complaint during the admission is still dyspnea. The physical examination revealed mild rhonchi ILD and a pansystolic murmur indicative of severe valvular heart disease, with no other significant findings. Ventavis (Iloprost) 10 mcg/ml 2 ml was added in 2020. Molecular hydrogen therapy (1 capsule/day) was initiated in May 2023. Hydrogen capsules (PURE HYDROGEN) were purchased from HoHo Biotech Co., Ltd. (Taipei, Taiwan, ROC). Each capsule contained 170 mg of hydrogen-rich coral calcium containing 1.7×1,021 molecules of hydrogen, which is equivalent to 24 cups of water with 1,200 ppb of hydrogen or 0.6 mM of hydrogen per 200 ml of water. Adjuvant therapy with hydrogen capsules resulted in increased CD127 + Treg, decreased anti-Ro antibody, decreased B cell subsets, and stabilization of clinical symptoms and signs was observed following the addition of hydrogen therapy in this patient. No adverse reactions or events were observed following the administration of hydrogen capsules. Flow cytometry and serological examination were employed for whole-blood analysis to assess changes in immune cells and autoantibody before and after hydrogen therapy. For subsequent whole-blood analysis via flow cytometry, blood samples were prepared using standard fluorescent dye preparation methods and fluorescent antibody reagent kits with dried reagents (Beckman Coulter, Brea, CA, USA). The methods, steps, immunophenotypic analysis, and cell gating were conducted following previously described procedures. Our analysis of immunophenotypic markers before and after hydrogen therapy revealed increased CD127 + Treg and decreased B cell subsets after treatment. Moreover, this study adheres to the CARE reporting guidelines (2013 CARE Checklist).", "diff_label_texts": "This report is about a 56-year-old woman with Sjogren’s syndrome. It caused lung scarring and high blood pressure in the lungs. Doctors found this in 2013. She took medicines for lung pressure and for her immune disease: sildenafil, bosentan, macitentan, iloprost, and steroids. Even with treatment, she got worse. In 2020, she had very hard breathing and went into heart-related shock. In May 2023, her care team added daily hydrogen capsules to help. After starting the hydrogen capsules, tests showed more immune cells that calm the body (CD127+ Tregs). A Sjogren’s antibody called anti-Ro went down. Some B cells, another kind of immune cell, also went down. Her symptoms became stable. She had no side effects.", "summary": "We present the case of a 56-year-old female with CTD-PAH, diagnosed in 2013 with Sjogren’s syndrome complicated by interstitial lung disease (ILD) and PAH. Despite treatment with sildenafil, bosentan, macitentan, iloprost, and corticosteroids, her condition deteriorated, resulting in severe dyspnea and cardiogenic shock in 2020. In May 2023, molecular hydrogen therapy was initiated as an adjuvant treatment. The patient received daily hydrogen capsules, which led to increased CD127+ Treg cells, reduced anti-Ro antibodies, and decreased B cell subsets. Her clinical symptoms stabilized without adverse effects." }, { "doc_id": 41, "label": "intermediate_health_literacy", "fulltext": "A 23-month-old boy with hypoxic-ischaemic encephalopathy at birth with good brain motor potential and normal psychomotor development. He had a personal history of restrictive cardiomyopathy and was included in a cardiac transplant programme when he was 16 months old. He also required the implantation of an external Berlin Heart biventricular support device. In order to prevent embolic events, double antiplatelet and anticoagulant treatment was administered. When he was 23 month old presented with disconnection and right hemiparesis. A computerised tomography (CT) scan showed a hyperdense left middle cerebral artery (MCA), as well as a chronic right parietotemporal infarction. His blood analysis showed: red cells 4.16 × 106 µ/L; haemoglobin 11.4 g/gL; activated partial thromboplastin time (APTT) 93 seconds and international normalised ratio (INR) 1.08.\n\nIntravenous thrombolytic treatment was contraindicated due to double antiplatelet and anticoagulant treatment at full dose with heparin, so an intra-arterial thrombectomy was performed. Although the patient was 23 months old, he was in the third percentile of the weight curve (10 kg). Under general anaesthesia, the right femoral artery was punctured and an 11 cm long 4F sheath (Cordis, Ireland) was placed. A 4F vertebral Radiofocus catheter (Glidecath of Terumo, Belgium) was used to confirm the occlusion of the M1 segment of the left MCA. The artery was recanalised by mechanical thrombectomy with a stentriever using the 4F vertebral catheter as a tutor, positioning it in the petrous segment of the carotid artery. A 3 mm × 20 mm Trevo XP Pro Vue device (Stryker, The Netherlands) was used, with a straight Rapid Transit microcatheter (Codman Neurovascular, UK), opening the artery in one pass. The whole system was removed (tutor catheter, microcatheter and stentriever) simultaneously. In the control run, an iatrogenic dissection of the left internal carotid artery was detected, which had no clinical significance, however, as the left hemisphere was irrigated through the anterior communicant artery.\n\nOne month later, his heart transplant was carried out successfully. Neurologically, the only long-term sequel that came as a result of the stroke was a right upper limb spasticity.", "diff_label_texts": "A 16-month-old boy with restrictive cardiomyopathy (and a history of hypoxic‑ischaemic encephalopathy at birth but normal psychomotor development) was listed for heart transplant. At 20 months he required implantation of an external biventricular assist device (Berlin Heart) and was started on antiplatelet drugs plus full‑dose heparin to prevent clots. At 23 months he presented with reduced consciousness and right‑sided weakness; CT scan showed an occlusion of the left middle cerebral artery. Because he was on combined antiplatelet and anticoagulant therapy, intravenous thrombolysis was contraindicated, so an urgent intra‑arterial mechanical thrombectomy with a stent‑retriever was performed and the artery was reopened in a single pass with good clinical result. Angiography detected a small procedure‑related dissection of the left internal carotid artery that had no clinical impact because the left hemisphere was perfused through the anterior communicating artery. One month later he underwent a successful heart transplant; the only lasting neurological deficit was spasticity of the right upper limb.", "summary": "A 16-month-old boy with restrictive cardiomyopathy who was listed for a cardiac transplant. At 20 months he required an implantation of an external biventricular support device (Berlin Heart) and had a left hemisphere stroke at 23 months. An intra-arterial approach was used and produced good clinical results. One month later, a heart transplant was performed successfully." }, { "doc_id": 45, "label": "low_health_literacy", "fulltext": "Patient and observation\nPatient information: This was a 67-year-old patient with no medical history who presented with dysphagia, dysphonia and altered general condition.\n\nClinical findings: initial clinical examination found a conscious patient with a Glasgow score of 15/15, apyrexia, blood pressure of 12/07 cmHg, oxygen saturation of 100%, heart rate of 80/min, conjunctivae of normal colour with a large mass in the cavum. There was no hepatomegaly or splenomegaly, the lymph node areas were free, the rest of the physical examination was normal.\n\nChronology: the patient had been experiencing difficulty swallowing with dysphonia for 6 months, the clinical picture worsened with the development of dysphagia for solids with a deterioration in general condition (weight loss of 15kg/6 months).\n\nDiagnostic approach: cervico-thoraco-abdomino-pelvic CT scan showed a 70 mm x 40 mm nasopharyngeal mass extending to 60 mm. The patient's blood work was normal (white blood cell count, renal and hepatic function, lactate dehydrogenase and HIV, HCV and HBV serologies). The histological and immunohistochemical study of the nasopharyngeal biopsy was in favour of a grade 1,2 CD20+; CD19+; CD79a+; CD10+ follicular B-cell NHL in 2 readings in 2 different laboratories. The bone marrow biopsy was normal as was the pre-therapeutic work-up.\n\nTherapeutic intervention: the patient received 4 RCHOP 21 cures (rituximab 375mg/m2 intravenous (iv), cyclophosphamide 750 mg/m2 iv, oncovin 2 mg iv, prednisolone 100 mg orally, and doxorubicin 50 mg/m2 (iv) with no response and then 3 RDHAOX cures (rituximab 375 mg/m2 intravenous (iv) on day 1, high dose aracytine 2 g/m2 x 2 iv on day 2, dexamethasone 40 mg from day 1 to day 4, and oxalipatine 100 mg/m2 on day 1) with no clinical response.\n\nFollow-up and results of therapeutic interventions: the persistence and increase of the nasopharyngeal mass led to the realization of the tracheotomy, the biopsy of the nasopharyngeal mass objectified the disappearance of the lymphoid B infiltration with presence of the amyloid deposits AL type kappa.\n\nImmune electrophoresis of plasma proteins showed the presence of immunoglobulin M kappa, the dosage of light chains was not performed due to lack of resources, the myelogram and a second bone marrow biopsy were normal, the TEP scan objectified a hypermetabolic nasopharyngeal process without other anomalies, the cardiac evaluation (ECG, natriuretic peptides, troponin, echocore) and renal were without particularities, the patient is currently under protocol bortezomib, prednisone and bendamustine with good clinical evolution after the first treatment.\n", "diff_label_texts": "This report is about a 67-year-old person with no major past illnesses. Their overall health got worse over time. They developed a hoarse voice and trouble swallowing. A large lump showed up in the neck/throat area. A small tissue test (biopsy) showed a slow-growing type of lymphoma (non-Hodgkin), grade 1–2. A special X‑ray scan found a lump behind the nose about 7 cm by 4 cm, reaching about 6 cm in length. Tests on the soft center of the bones (bone marrow) were normal. The checkup before treatment was also normal. The person had four rounds of a chemo mix called rituximab plus CHOP, but it did not work. Then they had three rounds of rituximab plus DHAOX, and the lump stayed. A new biopsy showed the B‑cells were gone, and there was a build‑up of an abnormal protein called AL amyloid. A blood test found a protein called immunoglobulin M (IgM). A PET scan showed an active spot in the area behind the nose. The person is now on treatment with bortezomib, prednisone, and bendamustine.", "summary": "We report the case of a 67-year-old patient without pathological CDDs who presented with a deterioration of general condition with progressive dysphonia and dysphagia with a large mass in the neck that was biopsy-proven to be a grade 1 and 2 follicular non-Hodgkin lymphoma. A cervico-thoraco-abdomino-pelvic CT scan showed a 70 mm x 40 mm nasopharyngeal mass extending to 60 mm. Bone marrow biopsy was normal and the pre-therapeutic evaluation was normal. The patient received 4 courses of rituximab plus CHOP (cyclophosphamide, adriamycin, prednisone and oncovin) without response and then 3 courses of rituximab plus DHAOX (dexamethasone, high dose ara-cytin and oxalipatin) with persistence of the mass. The biopsy of the latter showed the disappearance of the B lymphocyte infiltration with presence of the AL amyloid deposits. The immunoelectrophoresis of plasma proteins showed the presence of immunoglobulin M. A positron emission tomography (PET) scan showed a hypermetabolic nasopharyngeal process. The patient is currently receiving a protocol of bortezomib, prednisone and bendamustine.\n" }, { "doc_id": 60, "label": "low_health_literacy", "fulltext": "A 19-year-old female presented to our hospital’s emergency room with a chief complaint of a two-day history of headache, accompanied by recurrent nausea, vomiting, and a one-day fever. On admission, her physical examination revealed a high fever of 39.1°C, elevated blood pressure at 189/120 mmHg, and a pulse rate of 148 beats per minute. Laboratory results indicated an elevated white blood cell count of 14.77×10^9/L and a neutrophil count of 13.55×10^9/L, suggesting a possible infection or inflammatory response. Initial empirical treatment with antibiotics was administered due to suspected infection, but her symptoms persisted. Given her abnormal vital signs, elevated inflammatory markers, and lack of symptom improvement, the patient was admitted for further diagnostic evaluation and transferred to the intensive care unit for close monitoring. A year prior, the patient had presented with similar symptoms and was diagnosed with myocarditis at a local hospital based on clinical findings at that time. During that hospitalization, she was also diagnosed with hypertension and prescribed antihypertensive medications. However, after discharge, the patient did not adhere to the prescribed antihypertensive therapy and did not regularly monitor her blood pressure. Additionally, it is notable that her father had a history of sudden, unexplained death.\n\nTo investigate the underlying etiology of the patient’s symptoms, a chest computed tomography (CT) scan was performed. Incidentally, this scan revealed a left adrenal mass with soft tissue density, measuring 43 mm × 36 mm. No pathological findings were observed in the head and chest CT scans. The electrocardiogram demonstrated sinus tachycardia with a shortened PR interval and tall, peaked P-waves in leads II, III, and aVF. Transthoracic echocardiography did not reveal any significant abnormalities.\n\nOn the second day of admission, the patient exhibited rising levels of brain natriuretic peptide (BNP) and Troponin I (TnI). The cardiologist provisionally diagnosed the patient with myocarditis of uncertain etiology, based on clinical presentation, elevated cardiac biomarkers (BNP and TnI), and supportive electrocardiogram findings. Treatment was initiated with methylprednisolone (0.25 g daily) to address potential myocardial inflammation due to suspected myocarditis. Furosemide (20 mg every 12 hours) and spironolactone (20 mg every 12 hours) were administered as diuretics to manage fluid retention and reduce cardiac workload. Perindopril amlodipine (10 mg: 5 mg daily) was prescribed as an angiotensin-converting enzyme inhibitor and calcium channel blocker combination to control blood pressure and reduce afterload. Metoprolol tartrate (25 mg every 12 hours) was used to manage heart rate and decrease myocardial oxygen demand, while esmolol (0.2 g/hour intravenous infusion), a short-acting beta-blocker, was administered for additional acute heart rate control due to sinus tachycardia. Due to concerns about a potential infection, moxifloxacin was added as empiric antibiotic therapy.\n\nGiven the patient’s presentation with an adrenal mass and hypertension, the endocrinologist recommended an evaluation of the aldosterone-to-renin ratio, plasma cortisol, plasma catecholamines, and 24-hour urinary catecholamines along with their metabolites. In the recumbent position, plasma and urinary catecholamine levels were markedly elevated (Table 1), including plasma dopamine at 524.5 pmol/L, norepinephrine at 83975 pmol/L, and epinephrine at 10579.3 pmol/L. Additionally, the 24-hour urinary levels showed free adrenaline at 4368.89 nmol/24 hours, free norepinephrine exceeding 12697.60 nmol/24 hours, normetanephrine at 8312 nmol/24 hours, metanephrines at 4078 nmol/24 hours, and vanillylmandelic acid at 58.1 mg/24 hours. These findings supported a clinical diagnosis of pheochromocytoma. On the fifth day post-admission, glucocorticoid therapy was discontinued, and perindopril amlodipine was substituted with terazosin for more targeted blood pressure management.\n\nAn enhanced abdominal CT scan further confirmed a left adrenal mass, highly suggestive of pheochromocytoma. Additionally, after obtaining informed consent, whole-exome sequencing was performed, revealing a heterozygous missense mutation, c.1900T > C: p. Cys634Arg, in the RET gene, leading to a substitution of cysteine with arginine at codon 634. This mutation raised suspicion for multiple endocrine neoplasia syndrome, prompting further evaluation of the thyroid and parathyroid glands. Thyroid color Doppler ultrasound identified a hypoechoic mass measuring 6 mm × 4 mm in the left thyroid lobe, and a mild elevation in calcitonin levels was noted. No additional significant abnormalities were detected.\n\nAs the patient’s condition gradually improved, plasma cortisol and ACTH levels returned to normal. The patient was subsequently discharged with a prescription for metoprolol tartrate (100 mg every 12 hours) and ivabradine hydrochloride (5 mg every 12 hours) for home management. Three months later, after achieving stable clinical status, the patient underwent resection of the left adrenal tumor, which measured 50 mm × 40 mm × 30 mm. Immunohistochemical analysis confirmed positive staining for Vim, CD56, Syn, CgA, and NSE, with S-100 positive in Sertoli cells, while CKpan, CD10, MART-1/Melan-A, and Melan-A were negative. The Ki67 index was 1%, leading to a definitive diagnosis of adrenal pheochromocytoma. The patient was discharged without further medications and has since been regularly followed up postoperatively without recurrence of symptoms. Over a 15-month postoperative follow-up, the patient exhibited persistently mild hypercalcitoninemia with stable thyroid nodule size, while PTH and serum calcium levels showed a progressive increase (Table 2). Further parathyroid scintigraphy using 99mTc-MIBI was performed, and the conclusion was a negative result for parathyroid adenoma.", "diff_label_texts": "A 19-year-old woman had a tumor on the gland that sits on top of the kidney that makes stress hormones. She did not have a dangerous attack, even though the tumor was large and she was given high-dose steroid medicine. A DNA test found a change in a gene called RET (c.1900T > C: p.Cys634Arg). This change is linked to a condition called MEN2A. Her thyroid had a small lump. A thyroid hormone called calcitonin was a little high. Her blood salts and the hormone that controls calcium (parathyroid hormone) were normal at first. For 15 months after surgery, calcitonin stayed a little high and the thyroid lump did not grow. Her parathyroid hormone and blood calcium slowly went up. A special scan of the parathyroid glands (99mTc-MIBI) did not show a tumor.", "summary": "We report the case of a 19-year-old female who presented with pheochromocytoma without experiencing a crisis, despite having a significant adrenal mass and undergoing high-dose glucocorticoid treatment. Genetic testing revealed a heterozygous missense mutation in the RET gene (c.1900T > C: p. Cys634Arg), associated with MEN2A. Further endocrine evaluation identified a thyroid nodule with mildly elevated calcitonin levels, but normal electrolyte and parathyroid hormone levels. Over a 15-month postoperative follow-up, the patient exhibited persistently mild hypercalcitoninemia with stable thyroid nodule size, while PTH and serum calcium levels showed a progressive increase. Further parathyroid scintigraphy using 99mTc-MIBI was performed, yielding a negative result for parathyroid adenoma." }, { "doc_id": 12, "label": "proficient_health_literacy", "fulltext": "A 52-year-old woman referred to the urology clinic with urinary complaints. Her symptoms began three years ago with frequency, dysuria and dribbling. She also mentioned the frequent passage of red and black thread-like substances in her urine. Moreover, during these discharges, she had headache, fever and chills. Intermittent periurethral and genital itching was another complaint of hers. She had been treated by several specialists with the diagnosis of recurrent urinary tract infections, with no clinical improvement. The patient denied recent travel, camping, hiking, farming, swimming and insect bites. She had positive history of pilonidal sinus surgery and hysterectomy, 8 and 7 years earlier, respectively. Two years prior to the current visit, she had been hospitalized for assessment. On physical examination, she was well-appearing with normal vital signs. All her laboratory tests, including cell blood count, urine analysis and biochemistries were in normal ranges. Abdominopelvic computed tomography (CT) scan revealed no abnormalities. Hence, she underwent cystoscopy, which demonstrated erythema and hyperemia of the bladder mucosa, suspended debris, and dilation of the left ureteral orifice. During consultation with an infectious diseases’ specialist, schistosomiasis was suspected, Therefore, she was treated with Praziquantel with the appropriate dose and duration and was discharged from the hospital.\n\nHowever, her symptoms did not subside. She was revisited by another infectious disease specialist, who prescribed her ivermectin due to suspicion to urinary myiasis. Nevertheless, no improvement was observed. She was readmitted to undergo bladder irrigation with polyethylene glycol, but the bladder washfluid did not contain any visible larvae. This procedure was followed by a two-day hematuria with spontaneous cessation. She was discharged home and advised to repeat the urine analysis one months later. Her random urine analysis was normal, so she collected her 24-h urine and sent it to the laboratory for analysis, in which a live larva was demonstrated under light microscope by the pathologist. The larva was isolated and sent to an entomologist to be identified morphologically. Finally, it was determined that the larva belonged to the species Sarcophaga. The patient was advised to take personal hygiene and consume at least 3 L of water daily.", "diff_label_texts": "A 52-year-old woman presented with a three-year history of urinary frequency, dysuria, and dribbling, along with intermittent passage of red and black thread-like material in the urine. Episodes with these discharges were associated with headache, fever, and chills, and she reported intermittent periurethral and genital pruritus. She had been repeatedly treated for recurrent urinary tract infections without clinical improvement. She denied recent travel, camping, hiking, farming, swimming, or insect bites. Past surgical history included pilonidal sinus surgery (8 years prior) and hysterectomy (7 years prior). Two years before the current visit, she was hospitalized for evaluation. Examination revealed a well-appearing patient with normal vital signs. Laboratory testing, including complete blood count, urinalysis, and serum chemistries, was within normal limits. Abdominopelvic CT was unremarkable. Cystoscopy demonstrated erythema and hyperemia of the bladder mucosa, suspended intravesical debris, and dilatation of the left ureteral orifice. Schistosomiasis was suspected and she received praziquantel at appropriate dose and duration, without improvement. A second infectious diseases consultation raised suspicion for urinary myiasis, and ivermectin was prescribed, again without benefit. She underwent bladder irrigation with polyethylene glycol; no visible larvae were recovered from the washings, and she experienced self-limited hematuria for two days post-procedure. A subsequent random urinalysis was normal. However, a 24-hour urine collection demonstrated a live larva on light microscopy. The specimen was isolated and identified morphologically by an entomologist as Sarcophaga spp. Final management emphasized personal hygiene measures and liberal oral hydration.", "summary": "We report a 52-year-old woman with persistent dysuria, frequency despite multiple treatments for suspected infections. Cystoscopy revealed erythema and debris, but imaging and laboratory tests were unremarkable. A live larva was identified in urine analysis, confirming the diagnosis. Treatment involved improved hygiene and hydration." } ]