OpenMed/multicare-articles huggingface dataset:
Endourologic Treatment for Aggressive Angiomyxoma of the Bladder
Authors: Rogério Cordeiro Filho, Aline A Carvalho, Renan A Carvalho, Manuela P Cordeiro, Gabriel S Cordeiro, Carlos D Teixeira, Rogério S Cordeiro, Renato N Pedro
Journal: J Endourol Case Rep (2019)
Keywords: turbt, aggressive angiomyxoma, bladder tumor, endourologic, transurethral resection of bladder tumor
MeSH terms: Case Reports

Background: Aggressive angiomyxoma (AA) is a rare tumor that usually appears in the female pelvic and perineal regions. It commonly has infiltrative behavior and high local recurrence risk. We report an unusual presentation of AA, originating in a female patient's bladder. Case Report: A 43-year-old female patient presented with recurrent urinary tract infection for 6 months; ultrasonography showed a bladder tumor that was diagnosed as AA by immunohistochemistry and treated with complete transurethral resection. Conclusion: Transurethral resection can be an effective approach for the treatment of AA.
Combination Therapy With Semaglutide and Dapagliflozin as an Effective Approach for the Management of Type A Insulin Resistance Syndrome: A Case Report
Authors: José Ignacio Martínez-Montoro, José Luis Pinzón-Martín, Miguel Damas-Fuentes, Andrea Fernández-Valero, Francisco J Tinahones
Journal: Front Endocrinol (Lausanne) (2022)
Keywords: type a insulin resistance syndrome, diabetes, glucagon-like peptide-1 receptor agonist, insulin resistance, sodium-glucose cotransporter 2 inhibitor
MeSH terms: Diabetes Mellitus, Insulin Resistance, Case Reports, Benzhydryl Compounds, Glucagon-Like Peptides, Glucosides, Humans, Insulin, Benzhydryl Compounds, Glucosides, Insulin, dapagliflozin, semaglutide, Glucagon-Like Peptides

Type A insulin resistance (IR) syndrome is a very uncommon genetic disorder affecting the insulin receptor (INSR) gene, characterized by severe IR without the presence of obesity. Patients with this condition will eventually develop diabetes, presenting a variable response to insulin-sensitizers, such as metformin and thiazolidinediones, and high doses of insulin. We report for the first time the results of the use of combination therapy with a glucagon-like peptide-1 receptor agonist and a sodium-glucose cotransporter 2 inhibitor for the treatment of diabetes in the context of type A IR syndrome.
Early detection of transformation to BPDCN in a patient with MDS
Authors: Kamal Chamoun, Sanam Loghavi, Naveen Pemmaraju, Marina Konopleva, Michael Kroll, Madeleine Nguyen-Cao, Marisa Hornbaker, Courtney D DiNardo, Tapan Kadia, Jeffrey Jorgensen, Michael Andreeff, Shimin Hu, Christopher B Benton
Journal: Exp Hematol Oncol (2018)
Keywords: bpdcn, early detection, mds, myelodysplastic syndromes, prognosis
MeSH terms: Case Reports

Background:
Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare and aggressive hematologic malignancy characterized by neoplastic cells that are positive for CD123, CD4, BDCA2, and TCL1 and aberrant expression of CD56. Historically, patients with BPDCN have an unfavorable prognosis and the optimal treatment is not established due to lack of prospective data.
Case report:
In this report we describe a patient with Felty's syndrome and myelodysplastic syndrome (MDS) in whom a population of aberrant plasmacytoid dendritic cells emerged while on treatment with decitabine. Approximately 4 months later he transformed to leukemic BPDCN with skin and eye manifestations. Cytogenetic analysis showed diploid karyotype and molecular analysis showed mutations in KRAS, NOTCH1, and RUNX1 genes. He was treated with CD123-targeted therapy and had significant response in his marrow, skin, eyes, and functional status after one cycle.
Conclusion:
The case demonstrates that minimal transformative disease of BPDCN may be detectable in patients with MDS well before fulminant progression. Early detection of emerging leukemic clones may allow for alternative monitoring and treatment considerations.
Poncet's Disease in the Preclinical Phase of Rheumatoid Arthritis
Authors: Myat Tun Lin Nyo, Mahmood M T M Ally, Elsa Magreta Van Duuren, Regan Arendse
Journal: Case Rep Rheumatol (2018)
MeSH terms: Case Reports

We report on a patient with seropositive polyarthritis retrospectively diagnosed as Poncet's disease in the preclinical phase of seropositive rheumatoid arthritis. Our patient developed rheumatoid arthritis more than 2 years after being successfully treated for pulmonary tuberculosis and an initial inflammatory polyarthritis consistent with the diagnosis of Poncet's disease. This case illustrates the importance of recognizing Poncet's disease in a patient presenting with polyarthritis in order to avoid inappropriate long-term disease modifying antirheumatic treatment. It also illustrates the need for adequate follow-up of patients with Poncet's disease after treatment with antituberculosis treatment so that progression to a primary inflammatory arthritis such as rheumatoid arthritis may be identified timeously. Although seropositivity for rheumatoid arthritis has been reported in Poncet's disease as well as in tuberculosis, it is rather uncommon, and long-term follow-up of patients with Poncet's disease is essential particularly if they have positive serological tests for rheumatoid arthritis. In this case report, we describe the first reported case of Poncet's disease in the preclinical phase of rheumatoid arthritis and review the literature related to this rare disease presentation.
Nonsurgical Management of Severe Osteonecrosis of the Knee in an HIV-Positive Patient: A Case Report
Authors: Stephanie A Nixon, Kelly K O'Brien, Gary Rubin
Journal: Case Rep Infect Dis (2011)
MeSH terms: Case Reports

Due to the life-prolonging effects of combination antiretroviral therapy, many people with HIV are living longer. However, this enhanced longevity is often mirrored by increased disability resulting from HIV and/or the adverse effects of medication. Management of HIV-positive patients is further complicated by comorbidities related to aging, including bone and joint disorders. In this paper, we describe the nonsurgical management of an HIV-positive patient with premature onset of severe osteonecrosis of the knee. A 50-year-old man who had been HIV-positive for 16 years and on combination antiretroviral therapy for 11 years presented to his family physician with extreme discomfort in his right knee. He was diagnosed with osteonecrosis of the right knee, but resisted total knee arthroplasty because of potential complications under anesthesia related to comorbid advanced liver disease. Instead, a successful combination of non-surgical management strategies was employed by the patient and his health care team.
Ameloblastic Carcinoma with Calcification: A Rare Case Report in the Mandible and Literature Review
Authors: Neda Kardouni Khoozestani, Farzaneh Mosavat, Mohammad Shirkhoda, Ramtin Azar
Journal: Case Rep Dent (2020)
MeSH terms: Case Reports

Ameloblastic carcinoma (AC) is a scarce malignant tumor which is more prevalent in the mandible than the maxilla. It occurs in a wide range of age groups, and there is a sex predilection in males. AC shows specific microscopic features and requires more aggressive surgical treatment plans in comparison with conventional ameloblastoma. Radiographically, AC resembles ameloblastoma except that it rarely represents focal mineralized materials, seemingly reflecting dystrophic calcification. This characteristic is uncommon in typical ameloblastomas, and only few cases reported with such opacities and mineralized materials. Due to this rare radiographic and microscopic presentation, an accurate diagnosis could be challenging, and pathologists should consider a combination of benign and malignant odontogenic tumors occurring in jaws.
Post coital aortic dissection: a case report
Authors: Gareth Morris-Stiff, Mari Coxon, Elizabeth Ball, Michael H Lewis
Journal: J Med Case Rep (2008)

Background:
Sudden onset peri- or post-coital cardiovascular disease is well documented in the literature including myocardial infarction, pulmonary embolus and subarachnoid haemorrhage. The occurrence of aortic dissection in this setting has been reported only once previously.
Case presentation:
We report the case of a 47 year old man who developed sudden onset right leg pain during coitus. This was initially believed to be neurological due to nerve impingement but an MRI failed to identify a prolapse. On further review after 6 weeks, pulses were noted to be absent in the patient's right leg and an urgent vascular review with investigation identified a dissection of the aorta which was subsequently successfully treated.
Conclusion:
This case illustrates a rare presentation of aortic dissection and demonstrates the importance of a thorough vascular assessment in the presence of sudden onset limb pain.
Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency
Authors: Birgit Köhler, Lin Lin, Bruno Ferraz-de-Souza, Peter Wieacker, Peter Heidemann, Vanessa Schröder, Heike Biebermann, Dirk Schnabel, Annette Grüters, John C Achermann
Journal: Hum Mutat (2008)
MeSH terms: Gonadal Dysgenesis, 46,XY / genetics, Mutation, Steroidogenic Factor 1 / genetics, Case Reports, Research Support, Non-U.S. Gov't, Adolescent, Adrenal Glands / metabolism, Adrenal Insufficiency / diagnosis, Adult, Child, Child, Preschool, Cohort Studies, Female, Gonadal Dysgenesis, 46,XY / diagnosis, Humans, Steroidogenic Factor 1 / analysis, NR5A1 protein, human, Steroidogenic Factor 1

Steroidogenic factor 1 (SF1, NR5A1) is a nuclear receptor that regulates multiple genes involved in adrenal and gonadal development, steroidogenesis, and the reproductive axis. Human mutations in SF1 were initially found in two 46,XY female patients with severe gonadal dysgenesis and primary adrenal failure. However, more recent case reports have suggested that heterozygous mutations in SF1 may also be found in patients with 46,XY partial gonadal dysgenesis and underandrogenization but normal adrenal function. We have analyzed the gene encoding SF1 (NR5A1) in a cohort of 27 patients with 46,XY disorders of sex development (DSD) from the German network of DSD. Heterozygous SF1 mutations were found in 5 out of 27 (18.5%) of cases. Four patients with SF1 mutations presented with the similar phenotype of mild gonadal dysgenesis, severe underandrogenization, and absent Müllerian structures. Of these, two patients harbored missense mutations within the DNA-binding region of SF1 (p.C33S, p.R84H), one patient had a nonsense mutation (p.Y138X) and one patient had a frameshift mutation (c.1277dupT) predicted to disrupt RNA stability or protein function. One additional patient ([c.424_427dupCCCA]+[p.G146A]) displayed a more marked phenotype of severe gonadal dysgenesis, normal female external genitalia, and Müllerian structures. Functional studies of the missense mutants (p.C33S, p.R84H) and of one nonsense mutant (p.Y138X) revealed impaired transcriptional activation of SF1-responsive target genes. To date, adrenal insufficiency has not occurred in any of the patients. Thus, SF1 mutations are a relatively frequent cause of 46,XY DSD in humans.
Chronic Atrophic Gastritis Presenting as Hemolytic Anemia due to Severe Vitamin B12 Deficiency
Authors: Amanda M Woodford, Rabhea Chaudhry, Gabriella A Conte, Varsha Gupta, Madhurima Anne
Journal: Case Rep Hematol (2021)
MeSH terms: Case Reports

Vitamin B12 is an essential nutrient which plays an important role in neurological function, hematopoiesis, and DNA synthesis. Low levels usually stem from either poor intake or a malabsorptive process. Presently, the most common cause of vitamin B12 deficiency is food-bound cobalamin malabsorption, which occurs when there is impaired release of vitamin B12 from ingested food due to an outstanding factor preventing the release of the nutrient from its transport protein. Such causes include achlorhydria, gastritis, gastrectomy, or the use of PPIs or antacids. A rarer cause is autoimmune chronic atrophic gastritis, resulting in pernicious anemia. In this disease process, there is destruction of parietal cells and thus a reduction in intrinsic factor, which is essential to the absorption of vitamin B12. Deficiency will result in a variety of abnormalities including but not limited to pancytopenia, paresthesias, and neuropsychiatric symptoms. A rare manifestation of vitamin B12 deficiency is hemolytic anemia, which occurs due to intramedullary and extramedullary dysfunction. This case describes a 46-year-old male with no past medical history who presented with chest pain, fatigue, and progressive weakness, found to have hemolytic anemia, ultimately attributed to vitamin B12 deficiency. Antiparietal cell antibodies and intrinsic factor antibodies (IFA) were both negative. Still, the patient underwent an endoscopy with biopsies of the stomach; pathology was consistent with chronic metaplastic atrophic gastritis. The patient improved with intramuscular vitamin B12 supplementation. This case highlights both a rare cause and presentation of vitamin B12 deficiency. Patients with autoimmune chronic atrophic gastritis should have antiparietal cell or intrinsic factor antibodies. Still, seronegative patients have been reported, like this patient. Additionally, hemolytic anemia secondary to vitamin B12 deficiency is uncommon. The presentation will usually mirror that of a thrombotic microangiopathy (TMA), including hemolytic anemia with schistocytes on peripheral blood smear and thrombocytopenia, as it did in this patient. This clinical entity is described as pseudothrombotic microangiopathy and is crucial to identify in order to prevent the initiation of invasive treatment strategies such as plasmapheresis.
Concurrent Tuberculous Meningoencephalitis and Anti-NMDAR Encephalitis: A Case Report
Authors: Chen Xiaoli, Wang Qun, Li Jing, Yang Huan, Chen Si
Journal: Front Neurol (2022)
Keywords: mycobacterium tuberculosis, anti-nmdar antibody, autoimmune encephalitis, case report, tuberculosis meningoencephalitis
MeSH terms: Case Reports

Background:
Cases of tuberculosis triggering the development of anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis are absent.
Case presentation:
Herein, we report, for the first time, the case of a patient who developed anti-NMDAR encephalitis likely due to tuberculosis. The patient, a 33-year-old man, experienced weight loss during the previous 2 years, along with acute headache, fever, cognitive deficits, and right ophthalmoplegia. Based on these findings and on data from magnetic resonance imaging and cerebrospinal fluid antibody analysis, tuberculous meningoencephalitis combined with anti-NMDAR encephalitis was diagnosed. Marked clinical and brain imaging improvement were observed after antituberculosis and high-dose corticosteroid treatment initiation, which persisted during the 3 months of follow-up.
Conclusions:
This case suggests that anti-NMDAR encephalitis may arise after tuberculosis infection. Therefore, clinicians must be aware of this possibility, especially when cognitive and new neurological symptoms suddenly occur.
Case Report: Exceptional Response to Avelumab After Failure of Electrochemotherapy in a Patient With Rapidly Progressive, PD-L1-Negative Merkel Cell Carcinoma
Authors: Martina Torchio, Laura Cattaneo, Massimo Milione, Natalie Prinzi, Francesca Corti, Marco Ungari, Andrea Anichini, Roberta Mortarini, Antonio Occhini, Giulia Bertino, Andrea Maurichi, Jorgelina Coppa, Maria Di Bartolomeo, Filippo Guglielmo de Braud, Sara Pusceddu
Journal: Front Oncol (2021)
Keywords: ect, mcc, merkel cell carcinoma, avelumab, case report, electrochemotherapy, immunotherapy, skin neoplasms
MeSH terms: Case Reports

This case report shows, for the first time, a patient experiencing a complete response after one dose of avelumab following extensive disease progression with prior electrochemotherapy (ECT) treatment. We suggest that ECT may help to establish a tumor microenvironment favorable to immunotherapy. Merkel cell carcinoma (MCC) is a highly aggressive skin cancer with seldom durable chemotherapy responses. ECT has recently emerged as a potential treatment option for several malignancies, including MCC. Avelumab, an anti-programmed cell death-ligand 1 (PD-L1) monoclonal antibody, became the first approved treatment for patients with metastatic MCC. ECT has been shown to activate the immune response, but it is still unknown how ECT may affect patient's response to subsequent immunotherapy. We report a case of a patient with MCC who presented with a rapidly growing skin nodule of the right cheek and experienced extensive disease progression following surgical debulking and ECT treatment. The patient received a flat dose of 800 mg avelumab intravenously every 2 weeks showing complete tumor regression after only one dose. Immunohistochemical analysis of surgical and post-ECT biopsies collected from the primary lesion revealed tumor expression of programmed cell death protein-1 (PD-1), but not PD-L1. Analysis of the tumor samples also revealed no expression of Merkel cell polyomavirus (MCPyV). Comparison of the biopsies showed a decrease in myeloid and T-cell markers after ECT but an increase in major histocompatibility complex (MHC) class I expression on tumor cells. Additionally, the patient experienced an increase in neutrophil-to-lymphocyte ratio and lactate dehydrogenase values post-ECT, which subsequently decreased with avelumab treatment. As of 30 October 2019, the patient was still receiving avelumab treatment and had an ongoing complete response. In this case report, a patient with PD-L1-negative and MCPyV-negative MCC who had disease progression following ECT experienced complete tumor regression with avelumab treatment, suggesting, for the first time to our knowledge, that ECT may help to establish a tumor microenvironment favorable to immunotherapy via a potential abscopal effect. Tumor-intrinsic PD-1 expression and modulation of MHC class I antigens after ECT may contribute to the clinical efficacy of avelumab in this context.
Complete response to FOLFOX4 therapy in a patient with advanced urothelial cancer: a case report
Authors: Yu Ri Seo, Se Hyung Kim, Hyun Jung Kim, Chan Kyu Kim, Seong Kyu Park, Eun Suk Koh, Dae Sik Hong
Journal: J Hematol Oncol (2010)
MeSH terms: Antineoplastic Combined Chemotherapy Protocols / therapeutic use, Carcinoma, Transitional Cell / drug therapy, Urologic Neoplasms / drug therapy, Case Reports, Carcinoma, Transitional Cell / pathology, Disease Progression, Fluorouracil / therapeutic use, Humans, Leucovorin / therapeutic use, Lung Neoplasms / drug therapy, Lung Neoplasms / secondary, Male, Middle Aged, Neoplasm Invasiveness, Organoplatinum Compounds / therapeutic use, Remission Induction / methods, Treatment Outcome, Urologic Neoplasms / pathology, Urothelium / drug effects, Urothelium / pathology, Organoplatinum Compounds, Leucovorin, Fluorouracil, Folfox protocol

No standard has been established for salvage therapy in gemcitabine refractory advanced urothelial cancer. We report the complete response to FOLFOX4 therapy of a metastatic urothelial cancer patient, for whom adjuvant gemcitabine plus cisplatin combination chemotherapy had failed. A 54-year-old male patient with urothelial cancer (transitional cell carcinoma) in the right kidney underwent three rounds of adjuvant gemcitabine-cisplatin chemotherapy after extensive radical nephrectomy. However, he had new liver, lung metastases and synchronous two separate primary colon cancer. The lung metastasis lesion was confirmed as a metastatic urothelial cancer via percutaneous transthoracic needle biopsy (PTNB). Liver and lung metastasis lesions disappeared after the 4th cycle of FOLFOX4 chemotherapy. In addition, colon cancer also disappeared after the 8th cycle of FOLFOX4 chemotherapy. The patient was still showing a complete response after 4 months. Clinical trials using the FOLFOX regimen as salvage therapy for gemcitabine-refractory advanced urothelial cancer are warranted.
Cystic Glioblastoma: A Mimicker of Infection? A Case Report and Literature Review
Authors: Ram Prakash Thirugnanasambandam, Gaudy Massiel Vanegas Silva, Alexander H Wu, Charles J Kim, Emanuela Cimpeanu, Jeremy Minkowitz, Charles Yanping Shao, Edwin Chiu
Journal: Case Rep Oncol Med (2023)
MeSH terms: Case Reports

Glioblastoma multiforme (GBM) is the most frequent malignant and aggressive type of glioma. Most cases of GBM present as a single solitary solid tumor; however, there are rare instances in which it may present as a cystic lesion. Here, we report an even rarer case of GBM presenting as bilateral multicystic lesions, mimicking infectious etiology. Our case highlights the importance of identifying clinical features of cystic GBM to ensure early diagnosis and treatment. A literature review was conducted in PubMed, looking at the common characteristics and treatment options for cystic GBM.
Rare constellation of abdominal vascular injuries in blunt trauma: Left gastric artery pseudoaneurysms and dissection
Authors: Karan D'Souza, Michael Sean Bleszynski, Harvey George Hawes
Journal: Int J Surg Case Rep (2019)
Keywords: blunt trauma, case report, dissection, left gastric artery, pseudoaneurysm

Introduction:
Abdominal visceral artery pseudoaneurysms and dissections in blunt trauma are uncommon, however, solitary vascular injury of the left gastric artery and development of multifocal dissections are extremely rare with only 5 reported cases in the literature.
Presentation of case:
A 79-year-old male presents two days after a motor boating incident in profound hemorrhagic shock. Subsequent CT imaging revealed moderate hemoperitoneum, two pseudoaneurysms of the left gastric artery measuring 6 mm and 9 mm, as well as attenuation of the artery in keeping with a focal dissection and intramural thrombus, and no active extravasation. After stabilization with blood product resuscitation, he was managed conservatively with administration of ASA and close monitoring.
Conclusion:
Abdominal visceral artery vascular injuries in blunt trauma can be managed safely with close monitoring, antithrombotic agent, and medical co-morbidity optimization. Instability or worsening/ persistent symptoms should be considered for endovascular treatment or surgical ligation Further research and reporting of management approaches are required.
Gradenigo's Syndrome and Bacterial Meningitis in a Patient with a Petrous Apex Cholesterol Granuloma
Authors: Jacqueline Hodges, Julie Matsumoto, Nicholas Jaeger, Brian Wispelwey
Journal: Case Rep Infect Dis (2020)
MeSH terms: Case Reports

Gradenigo's syndrome (GS) classically involves a triad of ear pain due to acute or chronic otitis media (OM), facial or retro-orbital pain in the distribution of the trigeminal nerve, and an abducens nerve palsy. The simultaneous presentation of all three components has become less common in cases of GS reported in the literature, particularly in the era of antibiotics effective against typical organisms attributed to OM and petrous apicitis. In addition to infectious petrous apicitis arising directly from OM, more recent cases of GS are attributed to the compression of the same traversing cranial nerves in the presence of various expansile petrous apex (PA) lesions, both benign and malignant. We report a case of a 24-year-old male who presented initially with nausea, fever, photophobia, left-sided retro-orbital pain, and headache. He was diagnosed with bacterial meningitis by lumbar puncture and treated with empiric antibiotics, with CSF eventually revealing nontypeable Haemophilus influenzae. Several days into his course, he developed diplopia with leftward gaze. Brain imaging revealed an expansile, erosive PA cholesterol granuloma with associated contiguous dural and leptomeningeal enhancement. The patient improved with antibiotics and eventually underwent surgical intervention. This atypical presentation of GS with a rare complication of meningitis in the setting of a PA granuloma demonstrates the importance of early recognition of this syndrome, as well as consideration of added surgical intervention in patients with pre-existing petrous lesions at potentially higher risk of dangerous complications of GS.