OpenMed/multicare-articles huggingface dataset:
A rare huge bladder inflammatory myofibroblastic tumor treated by en bloc resection with diode laser: a case report and literature review
Authors: Huisheng Yuan, Zilong Wang, Jiaxing Sun, Junhao Chu, Shishuai Duan, Muwen Wang
Journal: Front Oncol (2024)
Keywords: 1470 nm diode laser, bladder cancer, case report, en bloc resection, inflammatory myofibroblastic tumor, second transurethral resection
MeSH terms: Case Reports

Background:
Inflammatory myofibroblastic tumor (IMT) is a rare neoplasm with malignant potential. Bladder IMT is even rarer and mainly treated by surgical resection However, partial or radical cystectomy would affect the quality of life of patients due to major surgical trauma, and classical TURBT is hard to avoid intraoperative complications including obturator nerve reflex and bleeding etc. Therefore, the safe and effective better choice of surgical approaches become critical to bladder IMT.
Case presentation:
A 42-year-old male patient was admitted to the department of urology with persistent painless gross hematuria for more than 10 days without the presentation of hypertension. Preoperative routine urine examination of red blood cells was 7738.9/HPF (normal range ≤ 3/HPF). CTU indicated a space occupying lesion (6.0 cm×5.0 cm) in the left posterior wall of the bladder with heterogeneous enhancement in the excretory phase. MRI also indicated bladder tumor with slightly equal SI on T1WI and mixed high SI on T2WI (6.0 cm×5.1cm×3.5cm) in the left posterior wall of the bladder. En bloc resection of bladder IMT with 1470 nm diode laser in combination of removing the enucleated tumor by the morcellator system was performed. Postoperative pathological examination revealed bladder IMT, with IHC positive for Ki-67 (15-20%), CK AE1/AE3, SMA, and Desmin of bladder IMT and negative for ALK of bladder IMT as well as FISH negative for ALK gene rearrangement. Second TUR with 1470 nm diode laser was performed within 6 weeks to reduce postoperative risk of recurrence due to highly malignant potential for the high expression of Ki-67 (15-20%) and negative ALK in IHC staining. The second postoperative pathology report showed chronic inflammation concomitant with edema of the bladder mucosa without bladder IMT, furthermore no tumor was observed in muscularis propria layer of bladder. No recurrence occurred during the period of 24-month follow-up.
Conclusion:
En bloc resection of bladder IMT in combination of the following second transurethral resection with 1470 nm diode laser is a safe and effective surgical approach for the huge bladder IMT with highly malignant potential.
Pitfalls in Diagnosis: JMML versus KMT2A Rearranged Juvenile AML
Authors: Liesbeth Vanheeswijck, Sanjay Tewari, Robin Dowse, Nicola Potter, Jelena Jovanovic, Caroline L Furness, Elsje Van Rijswijk
Journal: Case Rep Hematol (2024)
MeSH terms: Case Reports

Background:
Lysine methyltransferase 2A (KMT2A) rearrangements are commonly found in juvenile acute myeloid leukaemia (AML). Although distinct diseases, there is a known clinical overlap between KMT2A-rearranged AML and juvenile myelomonocytic leukaemia (JMML). Both occur in infancy or early childhood and present with abnormal monocytosis. Case Report. We report a case of a 20-month-old girl, who presented with lethargy, recurrent infections, bruising, and marked hepatosplenomegaly. JMML was suspected after initial work-up, revealing an abnormal monocytosis without blast excess on immunophenotyping. The additional cytogenetic and molecular diagnostics, revealing a KMT2A rearrangement, was decisive for the confirmation of AML.
Conclusion:
This case highlights the challenges of diagnosing KMT2A-rearranged monocytic AML and the importance of careful morphological assessment in partnership with cytogenetic and molecular diagnostics to distinguish between KMT2A-rearranged AML and JMML. Moreover, the emerging role of molecular monitoring in AML is highlighted.
Constitutional Chromothripsis on Chromosome 2: A Rare Case with Severe Presentation
Authors: Afia Hasnain, Laura L Thompson, Nicole L Hoppman, Karine Hovanes, Jing Liu, Bita Hashemi
Journal: Case Rep Genet (2024)
MeSH terms: Case Reports

Chromothripsis is characterized by shattering and subsequent reassembly of chromosomes by DNA repair processes, which can give rise to a variety of congenital abnormalities and cancer. Constitutional chromothripsis is a rare occurrence, reported in children presenting with a wide range of birth defects. We present a case of a female child born with multiple major congenital abnormalities including severe microcephaly, ocular dysgenesis, heart defect, and imperforate anus. Chromosomal microarray and mate pair sequencing identified a complex chromosomal rearrangement involving the terminal end of the long arm of chromosome 2, with two duplications (located at 2p25.3-p25.1 and 2q35-q37.2 regions) and two deletions (located at 2q37.2-q37.3 and 2q37.3 regions) along with structural changes including inverted segments. A review of the literature for complex rearrangements on chromosome 2 revealed overlapping features; however, our patient had a significantly more severe phenotype which resulted in early death at the age of 2 years. Breakpoints analysis did not reveal the involvement of any candidate genes. We concluded that the complexity of the genomic rearrangement and the combined dosage/structural effect of these copy number variants are likely explanations for the severe presentation in our patient.
The second docetaxel rechallenge for metastatic castration-resistant prostate cancer: a case report
Authors: Wei Ning, Pengkang Chang, Ji Zheng, Fan He
Journal: Front Oncol (2023)
Keywords: case report, later-line treatment, metastatic castration-resistant prostate cancer (mcrpc), prostate cancer (pca), second docetaxel rechallenge (dr)
MeSH terms: Case Reports

Background:
Docetaxel combined with prednisone plus androgen deprivation therapy (ADT) is the preferred treatment option for metastatic hormone-sensitive prostate cancer (mHSPC) or metastatic castration-resistant prostate cancer (mCRPC). With the development of next-generation hormonal agents (NHAs) and poly (ADP-ribose) polymerase (PARP) inhibitors, more aggressive first-line or later-line treatment strategies have been added to the treatment of mHSPC and mCRPC. However, docetaxel rechallenge (DR) has special clinical significance in patients with "docetaxel-sensitive" prostate cancer. There are no reports on the efficacy and safety of the second DR in mCRPC patients.
Case presentation:
We report one patient diagnosed with mCRPC who showed progression-free survival (PFS) and overall survival (OS) benefits and safety and good lower urinary tract function after the second DR.
Conclusion:
The second DR as a potential alternative later-line treatment strategy should be considered for patients with mCRPC who worry about the high economic burden of multigene molecular testing and PARP inhibitors as well as repeated prostate needle biopsy.
Surgical Excision of Lipomas in Bilateral Upper Limbs and Right Thigh: A Case Report
Authors: Akanksha Yachmaneni, Suhas Jajoo, Chandrashekhar Mahakalkar, Shivani Kshirsagar, Shubham Durge
Journal: Cureus (2024)
Keywords: benign neoplasms, individualized treatment, lipomas, soft tissue tumours, surgical excision, symptomatic lipomas
MeSH terms: Case Reports

Lipomas are common benign soft tissue tumors composed primarily of mature adipose tissue. They are often encountered clinically due to their characteristic slow growth, typically as soft, painless, subcutaneous nodules. While lipomas are generally asymptomatic, surgical intervention is sought by patients when they lead to discomfort, cosmetic concerns, or functional impairment. In this case report, we present the successful surgical excision of 25 lipomas in the bilateral upper limbs and right thigh of a 43-year-old male. Pre-operative assessment, precise surgical technique, and post-operative care are highlighted as essential management components. The case emphasizes the importance of individualized treatment, ensuring symptomatic lipomas' diagnosis and effective management. This report serves as a valuable reference for healthcare professionals caring for patients with lipomatous lesions, contributing to understanding soft tissue tumor management.
Case report: A case of new mutation in SERPINC1 leading to thrombotic microangiopathy
Authors: Bing Li, Xiaohui Zhang, Hailin Lv, Xiaoqing Yang, Yanxia Gao, Zhao Hu, Chengjun Ma
Journal: Front Genet (2023)
Keywords: serpinc1 gene mutation, case report, hereditary antithrombin iii deficiency, thrombosis, thrombotic microangiopathy
MeSH terms: Case Reports

Introduction: Hereditary antithrombin-III deficiency can significantly increase the risk for thrombosis, which is common in limb deep vein and pulmonary cases. However, thrombotic microangiopathy (TMA) caused by hereditary antithrombin deficiency is rare. Case Presentation: We reported the case of a 32-year-old Chinese female patient with TMA with renal injury caused by decreased antithrombin-III activity due to a new mutation (chr1-173884049 c.50A>G) in SERPINC1, which encodes antithrombin-III. In this case, the patient had no history of relevant drug use, diabetes, or monoclonal plasma cells in the bone marrow puncture. Consequently, TMA of the kidney was considered secondary to hereditary antithrombin-III deficiency. Gene detection was the only clue that led us to suspect that TMA was caused by hereditary antithrombin deficiency. Conclusion: Our findings indicated that for patients with repeated findings of antithrombin-III activity less than 50%, the possibility of antithrombin-III deficiency and complete gene detection must be considered immediately after excluding the use of anticoagulants and lack of availability to facilitate early detection, diagnosis, and intervention.
Raptured gas forming pyogenic liver abscess with a biliary fistula in Botswana: a case report
Authors: Andrew Ojuka, Chiapo Lesetedi, Christian Jabo, Kgosidialwa Frederick Mompati
Journal: Pan Afr Med J (2023)
Keywords: botswana, gas-forming liver abscess, biliary fistula, case report, pyogenic liver abscess
MeSH terms: Biliary Fistula / diagnosis, Biliary Fistula / therapy, Diabetes Mellitus, Liver Abscess, Pyogenic / diagnosis, Liver Abscess, Pyogenic / therapy, Case Reports, Abdominal Pain, Botswana, Humans

We report a case of gas-forming pyogenic liver abscess (GFPLA) with a ruptured abscess and biliary fistula presenting with peritonitis. The patient had poorly controlled diabetes mellitus and was extremely ill at presentation. The diagnosis was delayed until the abscess ruptured, owing to nonspecific abdominal symptoms at the initial presentation and delayed follow-up radiological investigations. The patient had a high-output biliary fistula post-operatively, which was managed with endoscopic retrograde cholangiopancreatography (ERCP) and stenting with fistula drainage reduction within four weeks. This case highlights the need for follow-up radiological investigations and prompt intervention in patients with diabetes mellitus presenting with fever and vague abdominal pain.
Knowledge Helps: Handling Rare Diseases in Regular Schools
Authors: Nicola Sommer, Julia Klug
Journal: Contin Educ (2024)
Keywords: inclusion, online tool, rare diseases, school, teaching unit

Thanks to medical successes and new treatment options, children and adolescents with rare diseases can now attend school more often playing an important role in their recovery as well as improving their social inclusion. For this reason, it is important for teachers to address the issue and acquire skills in dealing with rare diseases. In this context, a multi-professional team at the Salzburg University of Teacher Education organized a blended learning seminar on the topic of rare diseases at schools. Participants were provided with videos, texts, and case studies on a learning platform, which were worked on over a period of three weeks. There were also two online lectures in which questions could be asked. In order to evaluate the tool, 21 participants took part in a quantitative longitudinal study by means of a pretest and a posttest with a four-month interval. The participants completed a questionnaire consisting of a competence screening dealing with rare diseases together with questions to measure general and teacher self-efficacy. As expected, there was a statistically significant increase in both general and teacher self-efficacy with medium effect sizes. In addition, the theoretical and practical skills for supporting affected students at school were also shown to improve in a self-assessment. In view of the positive response from participants, it is recommended to further expand this offering in order to reach a broader population of teachers. In other words, only through raising awareness and increasing the competence of professionals working in schools can an environment be created for affected children and adolescents in which their specific needs are addressed.
Case report: Intraosseous hibernoma (IOH) mimics osseous metastasis: another rare pitfall in FDG-PET-CT
Authors: Sebastian J Stolte, Hanna Geiger, Flavio Forrer, Regulo Rodriguez, Joachim Müller
Journal: Front Nucl Med (2023)
Keywords: fdg-pet/ct, adipocytic tumor, brown fat, hibernoma, intraosseous hibernoma, osseous metastasis
MeSH terms: Case Reports

Intraosseous hibernoma (IOH) mimicking osseous metastasis is a rare and little-known pitfall in nuclear medicine and radiology. Referring to a clinical case, we show imaging features in FDG-PET and CT as well as pathological characteristics and discuss MRI and differential diagnoses. A 73-year-old woman was assigned for an FDG-PET/CT examination after the incidental finding of a suspicious pulmonary nodule. The FDG-PET/CT examination detected a small slightly FDG-avid pulmonary nodule suspicious for malignancy and a small slightly sclerotic lesion with mild FDG-uptake in the upper pubic bone. Histopathology revealed an intraosseous hibernoma, a rare benign soft-tissue tumor arising from brown fat. In the sparse literature available, intraosseous hibernomas may or may not be positive on bone scans. As in our case, most are slightly sclerotic on CT but lytic lesions have also been described. On MRI, they are T1 hypointense to subcutaneous fat and hyperintense to skeletal muscle; they are usually T2 hyperintense and may show peripheral contrast enhancement. According to the literature, IOHs are mostly incidental findings with solitary lesions in the spine, pelvis, ribs, or, very rarely, in the extremities with low to moderately increased glucose metabolism. IOHs present as painless tumors in general; a few painful cases could be successfully treated with radiofrequency ablation or surgery. Differential diagnoses include metastases, lymphoma, fibrous dysplasia, and non-ossifying fibroma among others. Intraosseous hibernoma is a rare benign tumor that can mimic metastases in FDG-PET, CT, bone scan, and MRI. IOHs might be indistinguishable from metastases or malignant lesions, which makes a biopsy or follow-up mandatory in clinically relevant cases. Given the benign nature of IOHs, radiofrequency ablation or surgery is only an option in symptomatic cases.
Case report: Deep molecular remissions post two separate CD19-targeted chimeric antigen receptor T-cell therapies do not prevent disease from relapsing in Philadelphia chromosome-positive acute lymphoblastic leukemia
Authors: Yu Tang, Xiaoming Fei, Xianqiu Yu, Jiang Cao, Lixia Wang, Fang Lei
Journal: Front Oncol (2023)
Keywords: philadelphia chromosome–positive, acute lymphoblastic leukemia, allogeneic, chimeric antigen receptor t-cell, stem cell transplantation
MeSH terms: Case Reports

Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph+ ALL) is an aggressive B-cell malignancy. The management of a relapsed Ph+ ALL patient is challenging. Currently, either allogeneic stem cell transplant (allo-SCT) or CD19-targeted chimeric antigen receptor T-cell (CAR T-cell) are usually employed as salvage modalities for a relapsed patient. However, there are few reports concerning cases that had both allo-SCT and multiple CAR T-cell therapies, and the optimal management of such patients is unclear. Here, we report a relapsed Ph+ ALL male who was first salvaged with autologous CAR T-cell therapy, followed by allo-SCT. Unfortunately, he had a second relapse even with complete molecular remission (CMR) response after the first CAR T and allo-SCT. This patient was then successfully salvaged by a second CAR T-cell product that is donor-derived. However, even with a CMR response once again following the second CAR T-cell therapy and prophylactic donor lymphocyte infusion, he experienced a molecular relapse; ponatinib was employed as the subsequent salvage treatment. He achieved a CMR response following ponatinib and was still in remission at the last follow-up. No ABL kinase mutation was detected during the whole course of the disease. This case indicated that a repeated CD19-targeted CAR T-cell treatment is feasible and may be effective in a relapsed Ph+ ALL patient that had previous CAR T-cell and allo-SCT, even though both CAR T-cell have the same construction. However, even with a deep response after each CAR T-cell therapy and allo-SCT, there is still a very small amount of undetectable leukemic cells. The optimal management of Ph+ ALL patients who have a deep response after a second CAR T-cell therapy deserves further exploration.
A Rare Case of Autoimmune Disorder as a Trigger for Atypical Hemolytic Uremic Syndrome
Authors: Amit Pasari, Manish Balwani, Prasad Gurjar, Kapil Sejpal, Charulata Bawankule, Priyanka Tolani, Shubham Dubey, Pranjal Kashiv, Amol Bhawane, Sunny Malde, Sushrut Gupta
Journal: Cureus (2024)
Keywords: anca-associated vasculitis, antineutrophil cytoplasmic antibody, atypical hemolytic uremic syndrome, atypical hus, end-stage kidney disease, renal dysfunction, vasculitis
MeSH terms: Case Reports

Autoimmune diseases may act as a trigger for atypical hemolytic uremic syndrome (aHUS). Triggers for aHUS may include autoimmune diseases, infections, metabolic conditions, pregnancy, and transplants. aHUS-mediated injury to various organs, especially kidneys, can be life-threatening. Here, we present the case of a young female who had perinuclear antineutrophil cytoplasmic antibody (p-ANCA)-associated vasculitis and was diagnosed with aHUS. We consider underlying autoimmune p-ANCA-associated vasculitis as a trigger for aHUS in this case.
Cerebral infarction in centrum semiovale presenting with hemichorea: a case report and literature review
Authors: Jingjing Yi, Lingru Zhang, Tao Zhang, Jianfeng Li, Yifan Zhang, Meining Zhou
Journal: Front Neurol (2023)
Keywords: centrum semiovale, chorea, hemichorea, movement disorder, stroke
MeSH terms: Case Reports

Hemichorea caused by cerebral infarction in the centrum semiovale is a rare condition that can often be misdiagnosed. In this case report, we present a rare case of a 66-year-old man who experienced involuntary movement in his left limbs due to acute cerebral infarction in the centrum semiovale. The patient did not have any obvious inducements for the hemichorea. In this case, the treatment approach followed the guidelines for treating acute cerebral infarction, combined with the use of dopamine receptor blockers. The involuntary movements gradually improved and completely remitted after 5 days of treatment, with no relapse within the following 6 months. To summarize, this case report highlights the rare occurrence of hemichorea caused by cerebral infarction in the centrum semiovale. Prompt recognition and appropriate treatment are essential to prevent misdiagnosis and ensure optimal management of the condition.
Case report: An adolescent female with anosmic hypogonadotropic hypogonadism, intellectual disability, and papillary thyroid carcinoma: heterozygous deletion of TCF12
Authors: Nur Berna Celik, Abdullah Sezer, Nebiyye Genel, Senay Savas-Erdeve, İbrahim Karaman, Semra Cetinkaya
Journal: Front Endocrinol (Lausanne) (2024)
Keywords: anosmia, hypogonadotropic hypogonadism, intellectual disability, obesity, papillary thyroid carcinoma
MeSH terms: Basic Helix-Loop-Helix Transcription Factors / genetics, Hypogonadism / complications, Hypogonadism / genetics, Hypogonadism / pathology, Intellectual Disability / complications, Intellectual Disability / genetics, Thyroid Cancer, Papillary / complications, Thyroid Cancer, Papillary / genetics, Thyroid Cancer, Papillary / pathology, Thyroid Neoplasms / complications, Thyroid Neoplasms / genetics, Thyroid Neoplasms / pathology, Case Reports, Adolescent, Female, Heterozygote, Humans, Basic Helix-Loop-Helix Transcription Factors, TCF12 protein, human

Background:
Isolated hypogonadotropic hypogonadism is a heterogeneous clinical entity. There is a growing list of molecular defects that are associated with hypogonadotropic hypogonadism (HH). TCF12, a recently identified molecular defect, causes craniosynostosis and is suggested to be used as a biomarker for prognosis in various cancer types. Recently, TCF12 variants were shown in a cohort with HH.
Case presentation:
A 15.3 years old female patient was referred to the endocrinology clinic for obesity. She had been gaining weight from mid-childhood. She had her first epileptic seizure at the age of 15.1 years and mildly elevated thyroid autoantibodies were detected during evaluation for etiology of seizures. She had not experienced menarche yet. She was operated for left strabismus at the age of 7 years. School performance was poor and she was receiving special education. Tanner stage of breast was 1 and pubic hair was 3. The endocrine workup revealed hypogonadotropic hypogonadism. Also, the Sniffin' Sticks test detected anosmia. Thyroid ultrasonography was performed due to the mildly elevated thyroid autoantibodies, and thyroid nodules with punctate calcifications were detected. Total thyroidectomy and central lymph node dissection were performed regarding the cytological findings of the nodules and multicentric papillary thyroid carcinoma with no lymph node metastasis was detected on pathology specimens. Regarding the phenotypic features of the patients, whole exome sequencing was performed and heterozygous deletion of exon 1 and exon 6-8 in TCF12 was detected.
Conclusion:
Haploinsufficiency of TCF12 causes anosmic HH. Probably due to the incomplete penetrance and variable expressivity of the disease, patients could display variable phenotypic features such as intellectual disability, developmental delay, and craniosynostosis. Further description of new cases with TCF12 variations could enhance our understanding of craniosynostosis and its potential link to Kallmann syndrome associated with this gene.
Olaparib induced aplastic anemia in a patient with castrate resistant prostate cancer: A case report
Authors: Elrazi A Ali, Monika Jain, Akriti Pokhrel, Unni Mooppan, Jen Chin Wang
Journal: Leuk Res Rep (2024)
Keywords: aplastic anemia, olaparib, pancytopenia, prostate cancer
MeSH terms: Case Reports

Olaparib is (ADP-ribose) polymerase inhibitor (PARPi), which stops the repair of single-stranded DNA breaks. This leads to the death of cancer cells with BRCA1/BRCA2 mutations or homologous recombination deficiency. Since being approved by the FDA in 2023 for treating castrate-resistant prostate cancer (CRPC), there have been some reports of myelodysplastic syndrome (MDS) and acute leukemia linked to PARP inhibitor use for ovarian, breast, pancreatic and breast cancers, there have been no reports of aplastic anemia after receiving PARPi therapy. This case report describes a 75-year-old man with BRCA2-positive metastatic castrate-resistant prostate cancer who developed aplastic anemia after taking olaparib.