OpenMed/multicare-articles huggingface dataset:
Exceptional and Sustained Response to Belzutifan in Von Hippel-Lindau Disease-Associated Central Nervous System Hemangioblastoma
Authors: Mousa Thalji, Vamshi Vadlapatla, Nicholas G Avgeropoulos, Naren Ramakrishna, Said Baidas
Journal: Cureus (2024)
Keywords: belzutifan, cerebellar hemangioblastoma, cns hemangioblastoma, hif-2 alpha inhibitor, hif2α, pheochromocytoma, renal cell carcinoma (rcc), targeted therapeutics, vhl-related syndrome, von hippel-lindau disease (vhl)
MeSH terms: Case Reports

Von Hippiel-Lindau (VHL) disease is a rare genetic disorder characterized by a variety of benign and malignant neoplastic growths arising in multiple different organ systems. About 60%-84% of patients develop hemangioblastomas, benign tumors comprised of newly formed blood vessels that often occur in the central nervous system (CNS) and retinas. Treatment options for this disease were limited before the Food and Drug Administration (FDA) approval of belzutifan, a HIF2α inhibitor. We present a case of a 25-year-old woman with VHL who underwent treatment with belzutifan over 18 months. It was noted that her CNS lesions decreased significantly in size over the course of her treatment, and she had minimal adverse effects. Her excellent and sustained therapeutic response to the treatment highlights the real-world clinical benefit of belzutifan and the possibility that this could play a crucial role in treating VHL by postponing or completely avoiding repeated surgical and radiotherapeutic intervention and their associated comorbidities.
Malignant Pheochromocytoma With Intravascular Extension to the Heart
Authors: Salar Haider, Muhammad Ahmad Khan, Asif Islam, Rida E Fatima Mirza, Saman Aslam
Journal: Ochsner J (2023)
Keywords: adrenal glands, esophageal and gastric varices, metanephrine, pheochromocytoma
MeSH terms: Case Reports

Background: Malignant pheochromocytomas are rare and aggressive tumors that arise from the adrenal medulla and secrete catecholamines. Patients exhibit episodic symptoms of hypertension, headaches, sweating, and palpitations. The diagnosis is supported by elevated levels of urinary metanephrines, and imaging is used to determine the stage. Treatment involves surgical resection when possible. Case Report: A 57-year-old male presented with hematemesis and melena, and endoscopy revealed upper gastrointestinal bleeding. Imaging showed a malignant pheochromocytoma that had infiltrated the upper lobe of the right kidney and the right lobe of the liver, with a tumor thrombus extending into the hepatic inferior vena cava, the right atrium, and the right ventricle. The patient denied surgery and was treated with palliative medical therapy until he died 3 months later. Conclusion: Although rare, malignant pheochromocytomas may present with upper gastrointestinal bleeding. While metastasis to the liver is a typical manifestation of malignant pheochromocytomas, invasion of the inferior vena cava with infiltration to the right ventricle resulting in tricuspid valve malfunction is a rare finding.
Dorsal laminectomy for the treatment of lateralised cervical intervertebral disc extrusions in dogs-Prognosis and complications
Authors: Diogo Gouveia, Giunio Bruto Cherubini
Journal: Front Vet Sci (2024)
Keywords: cervical, complications, dorsal laminectomy, extrusion, prognosis

Objective:
Describe the complication rate, expected hospitalization time and prognosis associated with dorsal laminectomy for the treatment of lateralised cervical intervertebral disc extrusion (IVDE) in dogs.
Methods:
This is a single-center retrospective case series study. Databases were reviewed from 2012 to 2022 for dogs that had a dorsal laminectomy to treat a lateralised cervical IVDE. Dogs were excluded if additional surgical techniques were performed, or other comorbidities were found on MRI.
Results:
Fifty two dogs were included the study. French bulldogs represented 28.8% of the cohort. Patient median age was 6 years and median weight 15 kg. Thirty-five dogs (67.3%) presented clinical signs for <3 days and almost half (44.2%) were ambulatory but presented cervical pain and neurological deficits. Median surgical time was 85 min. Minor intraoperative complications were reported in 22 (42.3%), with hypothermia being the most common. Thirteen (25%) needed revision surgery due to persistent cervical pain with (9/13) or without (4/13) neurological deficits. Re-extrusion or persistent extrusion was found in 92.3% of cases needing surgical revision. Median hospitalization time was 6 days. Forty-seven (90.4%) cases had a good outcome.
Conclusions and clinical significance:
Despite the relatively high rate of intraoperative complications and cases needing revision surgery, dorsal laminectomy as surgical treatment for lateralised cervical IVDE is still associated with good long-term prognosis in most of cases. Prognosis is good even when revision surgery is necessary but expected hospitalization time seems to be higher when compared to an alternative surgical technique.
Case report: Treatment of two cases of recurrent/refractory early T-cell precursor acute lymphoblastic leukemia with venetoclax combined with the CAG regimen
Authors: Yuxia Jiang, Lin Ji, Xin Jin, Haiying Wu, Mingxia He, Fenglin Shen, Xiaofeng Xu, Huifang Jiang
Journal: Front Med (Lausanne) (2024)
Keywords: cag, hsct, early t-cell precursor acute lymphoblastic leukemia, recurrent/refractory, venetoclax
MeSH terms: Case Reports

Early T-cell precursor acute lymphoblastic leukemia (ETP-ALL) is a highly aggressive subtype of T-ALL. No standard chemotherapy regimen exists for patients with recurrent/refractory (R/R) ETP-ALL; in these patients, the primary goal of salvage therapy is to achieve remission as a foundation for consolidation and intensification treatments. This study reports cases of two patients with R/R ETP-ALL who underwent salvage therapy of venetoclax combined with the CAG regimen and achieved complete remission in the bone marrow. Flow cytometry results were negative for minimal residual disease. Both patients were bridged to allogeneic hematopoietic stem cell transplantation (HSCT) and in complete remission over a 3-year follow-up period. These cases show that the use of venetoclax combined with the CAG regimen may offer patients with R/R ETP-ALL an opportunity for allogeneic HSCT.
Novel PRKAR1A mutation in Carney complex: a case report and literature review
Authors: Huaqiang Zheng, Hong Kang, Yizhen Qiu, Liangxiao Xie, Jinzhi Wu, Pengbin Lai, Jiapeng Kang
Journal: Front Endocrinol (Lausanne) (2024)
Keywords: carney complex, ppnad, prkar1a gene, case report, gene mutation
MeSH terms: Carney Complex / genetics, Carney Complex / pathology, Cyclic AMP-Dependent Protein Kinase RIalpha Subunit / genetics, Mutation, Case Reports, Review, Humans, Male, Young Adult, Cyclic AMP-Dependent Protein Kinase RIalpha Subunit, PRKAR1A protein, human

Objective:
Carney complex is a rare autosomal dominant syndrome that has been shown to be associated with inactivation due to PRKAR1A mutations. We revealed a novel PRKAR1A gene mutation in Chinese patient with Carney complex and review the literature to enhance understanding of Carney complex.
Case presentation:
A 23-year-old Chinese male patient with a family history cardiac myxoma was admitted to our Department of Endocrinology because of central obesity and hyperpigmentation. Physical examination revealed a maximum blood pressure of 150/93mmHg, a waist circumference of 102cm, a weight of 70kg, a height of 170cm, and a BMI of 24.22kg/m2. Additionally, there was spotty skin pigmentation on the lip mucosa, purple striae on the abdomen, thin skin on both legs, and visible veins. Blood examination revealed hypercortisolemia, decreased adrenocorticotropic hormone (ACTH) levels and failure to suppress cortisol with low and high-dose dexamethasone suppression tests. Magnetic resonance imaging (MRI) scan revealed multiple small adrenal nodules and Retroperitoneal neurogenic tumor. Genetic testing showed a novel heterozygous mutation in exon 5 of PRKAR1A (c.500_502 + 8delAAGGTAAGGGC). The patient underwent resection of the right adrenal gland and retroperitoneal neoplasms in 2020. Postoperative pathology following the right adrenal gland resection showed nodular hyperplasia of the adrenal cortex. The pathology from the retroperitoneal tumor resection revealed spindle cell tumors rich in pigment and cells. The patient was diagnosed as Carney complex according to Stratakis CA in 2001 guidelines. After long-term follow-up, the patient's condition was stable, with weight loss, waist circumference reduction, significantly lower cortisol levels, and normal blood lipids.
Conclusion:
This case reported a Carney complex in a Chinese patient, characterized clinically by non-ACTH-dependent Cushing's syndrome, familial recurrent cardiac myxomas, psammomatous melanotic schwannoma (PMS) and skin and mucosal pigmentation. A novel subtype of PRKAR1A mutation was discovered, which may affect the characteristics of the PRKAR1A protein and contribute to the development of Carney complex.
Use of trimethoprim- sulfamethoxazole for treating Pneumocystis jirovecii pneumonia in a patient with glucose-6-phosphate dehydrogenase deficiency: a case report
Authors: Linyu Wang, Xianlong Xie, Zhe Li, Yan Li
Journal: Front Med (Lausanne) (2024)
Keywords: pneumocystis jirovecii pneumonia, case report, glucose-6-phosphate dehydrogenase, hemolysis, lymphoma, trimethoprim-sulfamethoxazole
MeSH terms: Case Reports

Background:

Pneumocystis jirovecii pneumonia (PJP) is an opportunistic infection caused by the yeast-like fungus P. jirovecii. As recommended by some guidelines, the first-line treatment for this infection is trimethoprim-sulfamethoxazole (TMP-SMX), and the second-line treatment includes drugs such as dapsone, pentamidine, primaquine, Atovaquone, clindamycin, and caspofungin. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked gene disorder in which treatment with oxidizing drugs, such as sulfonamides, dapsone, primaquine, can directly destroy hemoglobin present in red blood cells (RBCs), thereby inducing methemoglobin and hemolysis.
Case presentation:
Here, we present the case of a lymphoma patient with previous G6PD deficiency who was admitted to ICU for the treatment of severe pneumonia combined with respiratory failure. PJP was detected by the next-generation sequencing of the bronchoalveolar lavage fluid. The patient was initially treated with the antifungal drug caspofungin; however, this treatment showed poor therapeutic effect. Based on the evaluation of G6PD enzyme activity and the patient's previous history of G6PD deficiency, we finally treated the patient with low-dose TMP-SMX combined with caspofungin and provided rigorous medical care to the patient. Following this treatment, the patient's clinical symptoms improved, lung computed tomography showed reduced pulmonary inflammation, and the fungal β-(1,3)-D-glucan test (G test) showed decreased levels of fungal D-glucan. After 57 days, the TMP-SMX treatment was discontinued. No symptoms related to G6PD deficiency, such as hemolysis, hematuria, and anemia, occurred during the treatment course.
Conclusion:
This is the first report mentioning the successful treatment of Pneumocystis jirovecii pneumonia with a double-drug regimen with low-dose TMP-SMX and caspofungin in a T-lymphoblastic leukemia/lymphoma patient with previous G6PD deficiency. Enzyme activity detection is the first step for anti-PJP treatment in patients with G6PD deficiency. Although patients with mild enzyme deficiency may not show any adverse reactions, we still recommend the regular monitoring of the levels of RBCs, hemoglobin, and hematocrit before and after the use of sulfonamides or sulfoxides and other oxidizing drugs in patients with G6PD deficiency. Among other things, early and correct diagnosis of Pneumocystis jirovecii pneumonia in hematological malignancies patients is very important. Relevant oncologists should be alert to the risk of Pneumocystis jirovecii pneumonia in these patients.
A Rare Case of Gemella haemolysans Endocarditis: A Challenging Diagnosis
Authors: Nadine S Kassab, Noor Alsammarraie, Tania Sarsam, Mina Al-Sammarraie, John Watt
Journal: Cureus (2024)
Keywords: bacterial sepsis, beta lactam antibiotics, gemella endocarditis, septic brain embolism, valve vegetation
MeSH terms: Case Reports

Gemella haemolysans bacterium is an opportunistic pathogen that can cause localized or systemic infections. Here we describe a rare case of infective endocarditis secondary to Gemella haemolysans infection. In our case, although the bacteremia was cleared with antibiotics, the mitral valve vegetations continued to enlarge and the course was complicated by septic brain emboli.
Efficacy of befotertinib in non-small cell lung cancer harboring uncommon compound EGFR mutations G719X and S768I: a case report
Authors: Zhedong Zhang, Yu Huang, Haihua Gu, Lufeng Zhao, Baiqin Zhao
Journal: Front Oncol (2024)
Keywords: egfr g719x/s768i, egfr tyrosine kinase inhibitors, nsclc, case report, next-generation sequencing
MeSH terms: Case Reports

The discovery of epidermal growth factor receptor (EGFR) somatic mutations and the availability of tyrosine kinase inhibitors (TKIs) as targeted therapies have transformed the treatment landscape for advanced non-small cell lung cancer (NSCLC). p.G719X and p.S768I mutations, often present in the form of complex mutations, are considered rare. This study firstly reported the treatment outcome of a locally advanced unresectable NSCLC patient with a rare complex EGFR p.G719X/p.S768I mutations who received befotertinib. After treatment, the patient achieved partial response (PR), and no severe adverse events were observed. This case report supported befotertinib as a promising treatment option for advanced NSCLC patients with the rare p.G719X/p.S768I complex mutations.
Diagnosing Schwannoma in the Wrist: a Challenging Case of Intraneural Ganglion Cyst Mimicry and a Review of Literature
Authors: Hatan Mortada, Abdulaziz M Alghamdi, Abdulmuhsen N Alshammari, Saad Alrobaiea, Musab Alrehaili, Abdullah Kattan
Journal: Case Reports Plast Surg Hand Surg (2023)
Keywords: schwannoma, case report, hand surgery, intraneural ganglion cyst, pitfalls
MeSH terms: Case Reports

Schwannoma can rarely mimic an intraneural ganglion cyst clinically and radiographically. This is a rare case report of a wrist schwannoma mimicking an intraneural ganglion cyst. The surgery was successful, and the histopathological report confirmed the diagnosis of benign schwannoma. After two years of follow-up, the patient is still symptom-free.
Atrioventricular re-entrant tachycardia and atrioventricular node re-entrant tachycardia in a patient with cancer under chemotherapy: a case report and literature review
Authors: Meiyan Dai, Yue Chen, Jin Qin
Journal: Front Cardiovasc Med (2024)
Keywords: arrhythmia, cancer, case report, chemotherapy, ion channel
MeSH terms: Case Reports

Cardio-oncology is a new field of interest in cardiology focusing on the detection and treatment of cardiovascular diseases, such as arrhythmias, myocarditis, and heart failure, as side-effects of chemotherapy and radiotherapy. The association between chemotherapeutic agents and arrhythmias has previously been established. Atrial tachyarrhythmias, particularly atrial fibrillation, are most common, but ventricular arrhythmias, including those related to treatment-induced QT prolongation, and bradyarrhythmias can also occur. However, the association between chemotherapeutic agents and atrioventricular re-entrant tachycardia (AVRT)/atrioventricular node re-entrant tachycardia (AVNRT) remains poorly understood. Here, we report a patient with new-onset AVRT/AVNRT and lung cancer who underwent chemotherapy. We considered that chemotherapy or cancer itself may have been a trigger for the initiation of paroxysmal AVRT/AVNRT, and that radiofrequency catheter ablation was effective in treating this type of tachycardia. Here, possible mechanisms and potential genes (mostly ion channels) involved in AVRT/AVNRT are summarized and the mechanisms underlying the possible regulatory patterns of cancer cells and chemotherapy on ion channels are reviewed. Finally, we considered that ion channel abnormalities may link cancer or chemotherapy to the onset of AVRT/AVNRT. The aim of the present study was to highlight the association between chemotherapeutic agents and AVRT/AVNRT and to provide new insights for future research. Understanding the intermediate mechanisms between chemotherapeutic agents and AVRT/AVNRT may be beneficial in preventing chemotherapy-evoked AVRT/AVNRT (and/or other arrhythmias) in future.
Exercise-induced vasospastic angina diagnosed with a hand grip test in the catheterization laboratory: a case report
Authors: Yoshiaki Kawase, Takayuki Warisawa, Kento Kikuchi, Takuya Mizukami, Hitoshi Matsuo
Journal: Eur Heart J Case Rep (2024)
Keywords: angiography, case report, exercised-induced, hand grip test, vasospastic angina
MeSH terms: Case Reports

Background:
Exercise-induced vasospastic angina (VSA) is a relatively uncommon clinical scenario and is difficult to diagnose in the catheterization laboratory.
Case summary:
A 61-year-old Japanese man presented to our hospital with complaints of angina upon exertion in the morning. Neither a 12-lead electrocardiogram nor an echocardiogram showed any abnormal findings. Invasive coronary angiogram revealed moderate stenosis in the left anterior descending coronary artery. A hand grip test was performed, during which the patient experienced chest pain, and coronary angiogram showed coronary spasm at the site of organic stenosis with delayed coronary flow. Intracoronary nitrates (300 ug) were administered, resulting in the release of coronary spasm.
Conclusion:
The hand grip test may serve as a useful method for diagnosing exercise-induced VSA in the catheterization laboratory.
Reactive Lymphoid Hyperplasia of the Liver Incidentally Found in a 55-Year-Old Woman with a History of Ulcerative Colitis
Authors: Noritoshi Mizuta, Takuya Kikuchi, Shunsuke Kusano, Nobuya Sano
Journal: Case Rep Surg (2024)
MeSH terms: Case Reports

Reactive lymphoid hyperplasia (RLH) is a benign disease, rarely occurring in the liver. Reactive immune phenomenon has been reported in association with its occurrence, but the true pathogenesis is unknown. No case was reported in association with inflammatory bowel disease. We report a case of RLH of the liver in a patient with ulcerative colitis (UC). A 55-year-old woman with UC went to the outpatient clinic with abdominal pain, and antibiotics were prescribed with diagnosis of acute appendicitis. Imaging study detected a mass in the liver but ruled out appendicitis. She was referred to our hospital for further examination after pain improving. A 12 mm hypoechoic mass was detected in the liver on ultrasonography. There were no typical malignant findings on computed tomography and magnetic resonance imaging. Regular image follow-up was recommended, but the patient strongly requested surgery because of family history of malignant disease. Laparoscopic partial hepatectomy was performed. Histopathological findings revealed a conglomerate hyperplasia of lymphoid follicles with germinal centers. Infiltrating lymphocytes were non-neoplastic. Final diagnosis was RLH of the liver. UC is chronic inflammatory bowel disease and may be related to RLH, but there is no clear explanation at this point. This is the first known reported case of RLH of the liver in a patient with UC. But the relationship between the RLH and UC remains uncertain. Further investigation and case accumulation are necessary.
Giant Coronary Artery Aneurysms Presenting As Posterior Myocardial Infarction
Authors: Syed M Ishaq, Sanchit Duhan, Bijeta Keisham, Taha Khalid, Badr Harfouch
Journal: Cureus (2024)
Keywords: acute coronary syndrome, coronary aneurysm, coronary artery ectasia (cea), giant coronary artery aneursym, myocardial infarction
MeSH terms: Case Reports

A coronary artery aneurysm (CAA) is defined as the dilatation of a vessel with a diameter of ≥1.5 times that of the adjacent normal vessel. Occasionally, aneurysms can be large enough to be characterized as giant CAAs, but there is no universally accepted definition. We discuss the case of a 45-year-old male patient who presented to the hospital with substernal chest pain. His ECG revealed ST depression and T wave inversions in precordial leads. Cardiac biomarkers were within normal limits. Due to concerns about coronary artery disease, cardiac catheterization was done, which revealed CAAs in the distribution of the right coronary artery (RCA), left anterior descending (LAD) and left circumflex (LCX) artery. The patient was at high risk for surgical intervention given coexisting severe pulmonary hypertension. Therefore, medical treatment was initiated with beta-blockers, high-intensity statin, and anticoagulation with warfarin. In a two-month follow-up, the patient remained asymptomatic without any residual symptoms. A CAA can present as an acute coronary syndrome. The treatment still evolves, involving medical management and/or percutaneous or surgical interventions.
Puzzling Papillomas: A Case of an Intraductal Papilloma Mimicking an Abscess
Authors: Siya Patil, Christine Chen
Journal: Cureus (2024)
Keywords: benign breast condition, breast cancer research, breast disease, intraductal papilloma, radiology & imaging
MeSH terms: Case Reports

Intraductal papillomas (IDPs) are benign tumors found within breast ducts. Clinicians should be familiar with IDPs given their association with atypical and neoplastic lesions. In our case, the patient was initially diagnosed with and treated for an abscess given clinical symptoms of breast pain, erythema, and swelling, but upon returning to the clinic a year later due to persistent symptoms, she was found to have an IDP. This case underscores the importance of atypical imaging features and close follow-up when evaluating breast lesions.
An adolescent with primary cutaneous follicle center lymphoma: a case report and literature review
Authors: Wen-Yan Niu, Xue-Shen Yan, Han Qiao, Yu-Jiao Sun, Hai-Yan Gu, Guang-Lun Li, Zhong-Guang Cui, Juan Du
Journal: Front Oncol (2023)
Keywords: b-cell lymphoma, adolescent, case report, cutaneous lymphoma, follicle center lymphoma
MeSH terms: Case Reports

Primary cutaneous follicle center lymphoma (PCFCL) differs from follicular lymphoma in biological behavior and molecular profile and is treated as a distinct entity, according to the 5th edition of the World Health Organization classification of hematolymphoid tumors. It is an uncommon cutaneous B-cell lymphoma that is considerably rare in children and adolescents. To date, only 13 cases of individuals younger than 20 years of age have been reported in the literature. The lack of relevant clinical epidemiological data in this population has hampered the investigation of its clinical and diagnostic aspects. Here we report the case of a 17-year-old male with PCFCL, who may be the first PCFCL patient under 20 years of age reported in China. He was admitted to the hospital with a solitary nodule on his face. After complete surgical excision, the patient's facial mass was histologically identified as PCFCL. The patient's prognosis was favorable, with no recurrence at 17 months of follow-up after the surgical resection. We present a case of an adolescent PCFCL patient and systematically review the literature with a view to increase the awareness of the disease and inform the diagnosis and treatment of this age group.