OpenMed/multicare-articles huggingface dataset:
Disseminated Tuberculosis Associated Hemophagocytic Lymphohistiocytosis in a Pregnant Woman With Evans syndrome: A Case Report and Literature Review
Authors: Yun-Feng Shi, Xiao-Han Shi, Yuan Zhang, Jun-Xian Chen, Wen-Xing Lai, Jin-Mei Luo, Jun-Hui Ba, Yan-Hong Wang, Jian-Ning Chen, Ben-Quan Wu
Journal: Front Immunol (2021)
Keywords: evans syndrome, case report, corticosteroid, hemophagocytic lymphohistiocytosis, tuberculosis
MeSH terms: Anemia, Hemolytic, Autoimmune / complications, Lymphohistiocytosis, Hemophagocytic / etiology, Pregnancy Complications, Thrombocytopenia / complications, Tuberculosis / complications, Case Reports, Research Support, Non-U.S. Gov't, Review, Adult, Antitubercular Agents / therapeutic use, Female, Humans, Methylprednisolone / therapeutic use, Pregnancy, Tuberculosis / drug therapy, Antitubercular Agents, Methylprednisolone, Evans Syndrome

Background:
Tuberculosis (TB) is a leading cause of morbidity and mortality in underdeveloped and developing countries. Disseminated TB may induce uncommon and potentially fatal secondary hemophagocytic lymphohistiocytosis (HLH). Timely treatment with anti-tuberculosis therapy (ATT) and downmodulation of the immune response is critical. However, corticosteroid treatment for TB-associated HLH remains controversial. Herein, we report a successful case of disseminated TB-associated HLH in a pregnant woman with Evans syndrome accompanied by a literature review.
Case presentation:
A 26-year-old pregnant woman with Evans syndrome was transferred to the Third Affiliated Hospital of Sun Yat-Sen University because of severe pneumonia. She presented with cough, fever, and aggravated dyspnea. Nested polymerase chain reaction for Mycobacterium tuberculosis (M. tuberculosis) complex in sputum was positive. Sputum smear sample for acid-fast bacilli was also positive. Metagenome next-generation sequencing (mNGS) of the bronchoalveolar lavage fluid identified 926 DNA sequence reads and 195 RNA sequence reads corresponding to M. tuberculosis complex, respectively. mNGS of blood identified 48 DNA sequence reads corresponding to M. tuberculosis. There was no sequence read corresponding to other potential pathogens. She was initially administered standard ATT together with a low dose of methylprednisolone (40 mg/day). However, her condition deteriorated rapidly with high fever, acute respiratory distress syndrome, pancytopenia, and hyperferritinemia. Bone marrow smears showed hemophagocytosis. And caseating tuberculous granulomas were found in the placenta. A diagnosis of disseminated TB-associated HLH was made. Along with the continuation of four drug ATT regimen, therapy with a higher dose of methylprednisolone (160 mg/day) combined with immunoglobulin and plasma exchange was managed. The patient's condition improved, and she was discharged on day 19. Her condition was good at follow-up with the continuation of the ATT.
Conclusions:
Clinicians encountering patients with suspected TB accompanied by unexplainable inflammation not responding to ATT should consider complications with HLH. Timely administration of ATT combined with corticosteroids may result in a favorable outcome.
Fifty-year follow-up and Strampelli anterior chamber intraocular lens
Authors: Carmen L Oakley, Matthew A Nigro, Brendan J Vote
Journal: GMS Ophthalmol Cases (2015)
MeSH terms: Case Reports

The Strampelli anterior chamber intraocular lens was created in 1953, and was primarily used to treat myopia and aphakia. Due to the positioning of the lens, it was associated with a number of complications, and was later modified to decrease the rate of significant complications, including endothelial cell loss. This paper describes a 62-year-old man, who has had a Strampelli intraocular lens (IOL) in situ for 52 years, with relatively few complications. The case provides a framework for reflection on the significant advances in the development of IOLs since the Strampelli era. The Strampelli anterior chamber intraocular lens was created in 1953, and was primarily used to treat myopia and aphakia. Due to the positioning of the lens, it was associated with a number of complications, and was later modified to decrease the rate of significant complications, including endothelial cell loss. This paper describes a 62-year-old man, who has had a Strampelli intraocular lens (IOL) in situ for 52 years, with relatively few complications. The case provides a framework for reflection on the significant advances in the development of IOLs since the Strampelli era.
Case Report: Potential Predictive Value of MMR/MSI Status and PD-1 Expression in Immunotherapy for Urothelial Carcinoma
Authors: Yu-Ting Ma, Hong-Lan Yang, Li Yan, Fang Hua, Dong-Guan Wang, Guo-Ying Xu, Yan Li, Ying-Jie Xue, Ye-Jun Qin, Dan Sha, Hao Ning, Miao-Qing Zhao, Zhi-Gang Yao
Journal: Pathol Oncol Res (2022)
Keywords: pd-1/pd-l1, immune checkpoint inhibitors, immunotherapy, lynch syndrome, microsatellite instability, urothelial carcinoma
MeSH terms: Carcinoma, Transitional Cell / drug therapy, Colorectal Neoplasms / pathology, Colorectal Neoplasms, Hereditary Nonpolyposis, Urinary Bladder Neoplasms / drug therapy, Urinary Bladder Neoplasms / genetics, Case Reports, DNA Mismatch Repair, Female, Humans, Immunotherapy, Microsatellite Instability, Programmed Cell Death 1 Receptor, Programmed Cell Death 1 Receptor

Immune checkpoint inhibitors (ICIs) have shown encouraging outcomes against Lynch syndrome (LS)-associated colorectal cancer (CRC) and endometrial cancer with mismatch repair deficient/microsatellite instability-high (dMMR/MSI-H). However, there is as yet no clarity on the safety and efficacy of immunotherapy combined with chemotherapy in LS-associated urothelial carcinoma (UC). Here, we report a patient with recurrent and metastatic LS-associated UC who achieved sustained response to programmed death protein 1 (PD-1) inhibitor combined with chemotherapy over 31 months, during which the side effects of immunotherapy could be controlled and managed. Our findings indicate that the dMMR/MSI status and PD-1 expression in UC may have potential predictive value for the response to PD-1-targeted immunotherapy. Our case supports the inclusion of such combination and/or monotherapy for UC in clinical studies and using dMMR/MSI status and PD-1 expression as potential predictive biomarkers for assessment of the therapeutic response.
Metastatic Mucinous Adenocarcinoma of the Prostate with PSA Value of 8.6 ng/mL at 5-Year-Followup after Prostatectomy, Radiotherapy, and Androgen Deprivation
Authors: Christos Kalaitzis, Michael Koukourakis, Stilianos Giannakopoulos, Alexandra Giatromanolaki, Efthimios Sivridis, Athanasios Bantis, Stavros Touloupidis
Journal: Case Rep Urol (2014)

Introduction. Mucinous adenocarcinoma of the prostate is a rare variant of prostate cancer. Its malignant potential and the clinical course of the affected patients remain, by and large, controversial. No data exist about the course of metastatic mucinous adenocarcinoma of the prostate. Case Presentation. This case report describes the excellent clinical course of a 68-year-old patient with metastatic mucinous adenocarcinoma of the prostate, treated by radical prostatectomy, irradiation, and androgen deprivation. Conclusion. In our case, mucinous adenocarcinoma of the prostate does not appear to behave differently than acinar prostate cancer. Its malignant potential is dependent on its Gleason score.
Burkitt's Lymphoma of the Gastrohepatic Omentum: A Malignant Presentation of Pseudoachalasia
Authors: Eric Omar Then, Andrew Ofosu, Prashanth Rawla, Tagore Sunkara, Sriharsha Dadana, Andrea Culliford, Vinaya Gaduputi
Journal: Case Rep Gastrointest Med (2019)
MeSH terms: Case Reports

Achalasia is an intrinsic disorder of the esophagus that results from loss of ganglion cells in the lower esophageal sphincter. Clinically it is manifested by dysphagia to solids and liquids, weight loss, regurgitation, and chest pain. Pseudoachalasia, in contrast, is a rare entity that causes identical symptoms, but has a divergent underlying pathogenesis. The symptomology in these cases oftentimes occurs secondary to extrinsic compression of the esophagus, mostly attributable to malignancy. Although many cases of extrinsic esophageal compression have been reported in the literature, rarely has this occurred secondary to Burkitt's lymphoma in an adult. Here, we present a case of Burkitt's lymphoma resulting in pseudoachalasia in a 70-year-old female. The concurrence of these two entities in one patient makes this case presentation especially rare.
Central Vascular Complications Following Elective Catheterization Using Transradial Percutaneous Coronary Intervention
Authors: Julia Merkle, Christopher Hohmann, Anton Sabashnikov, Thorsten Wahlers, Jens Wippermann
Journal: J Investig Med High Impact Case Rep (2017)
Keywords: artery dissection, artery perforation, complications, coronary vessel disease, percutaneous coronary intervention

Percutaneous coronary intervention is commonly used to treat coronary artery disease. Both transradial and transfemoral approaches are applied. In general, fewer complications are seen with the transradial approach compared to the transfemoral access, for which reason the transradial catheterization is frequently preferred. In this case presentation, we describe 2 cases of elective transradial coronary angiography both resulting in severe central vascular complications: perforation of the right subclavian artery with a mediastinal hematoma and dissection of the brachio-cephalic trunk and the aortic arch. Although the transradial access is generally considered safe, severe complications such as artery dissection or perforation can occur even in cases of elective procedures.
Orofacial Granulomatosis in a Child
Authors: Reena Razdan, Maxwell D Newby, Michele M Carr
Journal: Case Rep Pediatr (2019)
MeSH terms: Case Reports

Orofacial granulomatosis (OFG) is a rare, idiopathic disorder of the orofacial region. It is clinically characterized by persistent and/or recurrent enlargement of the soft tissues of the oral and maxillofacial region, often manifesting as labial enlargement and swelling of intraoral sites such as the gingiva, tongue, and buccal mucosa. Full-thickness mucosal biopsy reveals noncaseating granulomatous inflammation, similar to Crohn's disease and sarcoidosis. Thus, OFG must be distinguished from other chronic granulomatous disorders. We report a case of a young female patient who presented with labial and maxillary gingival enlargement without any identifiable systemic causes, with suggested involvement of environmental triggers.
Anomalous Right Coronary Artery from Left Main Coronary Artery and Subsequent Coursing between Aorta and Pulmonary Trunk
Authors: Deephak Swaminath, Ragesh Panikkath, Jason Strefling, Alvaro Rosales, Roshni Narayanan, Jason Wischmeyer
Journal: Case Rep Med (2013)

Anomalous origin of left main coronary artery or right coronary artery from the aorta with subsequent coursing between the aorta and pulmonary trunk is rare and can be sometimes life threatening. After hypertrophic cardiomyopathy, coronary artery anomalies are the second most common cause of sudden cardiac deaths among young athletes. This is a case presentation of an anomalous origin of right coronary artery from left main coronary artery coursing between the pulmonary trunk and aorta. Patient presented with STEMI and had coronary bypass surgery.
Benign Paroxysmal Positional Vertigo (BPPV) After Concussion in Two Adolescent Players During a Rugby Game
Authors: Khalid Bashir, Abdulla Yousuf, Hany A Zaki, Amr Elmoheen
Journal: Cureus (2023)
Keywords: bppv, emergency department, epley maneuver, rugby, trauma
MeSH terms: Case Reports

Benign paroxysmal positional vertigo (BPPV) is a medical condition where patients develop symptoms of vertigo, "room spinning," associated with nausea and vomiting. BPPV is believed to be caused by a disturbance in the inner ear vestibular system. Trauma has been recognized as one of the risk factors for this condition. BPPV can be easily diagnosed and treated by bedside maneuvers. Due to a lack of awareness among some treating clinicians, patients may have to wait for a long time before the correct management is offered. We share two cases of BPPV in 15- and 16-year-old male school students who developed posterior canal BPPV following a head injury during a rugby game. Both patients continue to have vertigo symptoms for several weeks before the final diagnosis. BPPV symptoms completely resolved following the Epley maneuver. Frontline clinicians need to diagnose and treat BPPV early to prevent the persistence of these debilitating symptoms. As far as we are aware, no previous study has published the occurrence of BPPV in young adolescent rugby players.
Transient Global Amnesia in a Patient Presenting with Hypertensive Emergency; a Case Report
Authors: Takafumi Obara, Tsuyosi Nojima, Hitoshi Koga, Atsunori Nakao, Hiromichi Naito
Journal: Arch Acad Emerg Med (2020)
Keywords: amnesia, arterial pressure, emergencies, htpertension, hypertension, memory disorders, stroke, transient global
MeSH terms: Case Reports

Transient global amnesia (TGA) is characterized by the abrupt onset of global amnesia, particularly anterograde amnesia. The pathophysiology of TGA is poorly understood and it could be caused by various factors and be associated with various diseases. We report a 58-year-old man who presented to the local emergency room with TGA lasting for several hours. The patient had complete anterograde amnesia without a past medical history of migraine or neurological findings. His systolic blood pressure on presentation was 220 mmHg, which was immediately treated with intravenous calcium ion influx inhibitor. Other than global amnesia, there was no evidence of neurological disturbance. Computed tomography and magnetic resonance imaging results were unremarkable. After treatment of his hypertension, his amnesia resolved within 12 hours. Emergency department physicians may encounter TGA. Correct diagnosis of the condition depends on recognizing the disease.
Esophageal Perforation into the Pericardium in a 3-Year-Old Child with Esophageal Stricture: A Rare Complication Following Esophageal Dilatation
Authors: Abdulrahman Nasser, Raif Nassir, Muhammad Younas Awan, Mohammad Anas AlShawa, Zakaria Habib
Journal: European J Pediatr Surg Rep (2022)
Keywords: esophageal dilatation, pericardial perforation, pneumomediastinum
MeSH terms: Case Reports

Perforation of the esophagus during dilatation is a rare complication that might cause mortality. We present the report of a 3-year-old girl who was diagnosed with B cell acute lymphoblastic leukemia at 17 months of age. She experienced a complicated clinical course after chemotherapy was initiated, which included mucositis and acute pericarditis. She later developed an acquired esophageal stricture and tracheoesophageal fistula, which were managed with resection and primary anastomosis when she was in remission. Postoperatively, the patient developed a leak, which was treated conservatively. She subsequently developed a stricture that was treated successfully. On the fourth dilatation attempt and after she was sent home, she presented with persistent vomiting and low-grade fever and became vitally unstable on the same day, after stabilization, upper gastroenterology contrast revealed contrast filling the pericardium. She was managed conservatively with close observation and serial echocardiograms and then discharged home on day 18 in good condition after complete resolution of the pericardial effusion.
Erythema and burning pain in the vulva: a possible phenotype of erythromelalgia
Authors: Elisabeth Johnson, Priya Iyer, Alisa Eanes, Denniz Zolnoun
Journal: Case Rep Med (2011)
MeSH terms: Case Reports

We report a case of burning vulvar pain accompanied by erythema responding to an oral combination of a benzodiazepine and a beta blocker. The positive response to two medication classes used in the treatment of erythromelalgia supports the possibility of a localized manifestation of this disorder in the genital region.
Rubinstein-Taybi syndrome: a rare case report of a female child emphasizing physiotherapy on gross motor function
Authors: Rakesh Krishna Kovela, Mohammad Irshad Qureshi, Ansar Manakandathil, Mukesh Kumar Sinha, Neethu Dinesh, Pallavi Harjpal
Journal: Pan Afr Med J (2021)
Keywords: rubinstein-taybi syndrome, case report, delayed development, physical activities, physiotherapy
MeSH terms: Dwarfism, Rubinstein-Taybi Syndrome / diagnosis, Rubinstein-Taybi Syndrome / genetics, Case Reports, CREB-Binding Protein / genetics, Female, Humans, Infant, Mutation, Phenotype, Physical Therapy Modalities, CREB-Binding Protein

Rubinstein-Taybi syndrome (RSTS) is a chromosomal segment 16p13.3 microdeletion syndrome and is characterized by CREBBP gene mutations, delay in the development of height and weight, distinctive facial features, broad and sometimes angulated thumbs and halluces, short stature, and intellectual impairment that is mild to extreme. Current literature emphasizes mainly medical, dental, and psychiatric issues in RSTS and there is no retrievable literature on physiotherapy and its role in improving motor function in RSTS. The present case report is of a baby girl of 17 months suspected case of RSTS, presented with all the features of RSTS. Delay in the acquisition of skills and development were the chief complaints. We designed a 12-week treatment regimen that concentrated mainly on transitions using principles of neurodevelopmental therapy. Gross motor function measure (GMFM 88) was taken pre- and post-treatment which showed tremendous improvement. This is the first study on the role of physiotherapy in RSTS.
Gastric Medullary Carcinoma with Sporadic Mismatch Repair Deficiency and a TP53 R273C Mutation: An Unusual Case with Wild-Type BRAF
Authors: Brett M Lowenthal, Theresa W Chan, John A Thorson, Kaitlyn J Kelly, Thomas J Savides, Mark A Valasek
Journal: Case Rep Pathol (2017)
MeSH terms: Case Reports

Medullary carcinoma has long been recognized as a subtype of colorectal cancer associated with microsatellite instability and Lynch syndrome. Gastric medullary carcinoma is a very rare neoplasm. We report a 67-year-old male who presented with a solitary gastric mass. Total gastrectomy revealed a well-demarcated, poorly differentiated carcinoma with an organoid growth pattern, pushing borders, and abundant peritumoral lymphocytic response. The prior cytology was cellular with immunohistochemical panel consistent with upper gastrointestinal/pancreaticobiliary origin. Overall, the histopathologic findings were consistent with gastric medullary carcinoma. A mismatch repair panel revealed a mismatch repair protein deficient tumor with loss of MLH1 and PMS2 expression. BRAF V600E immunostain (VE1) and BRAF molecular testing were negative, indicating a wild-type gene. Tumor sequencing of MLH1 demonstrated a wild-type gene, while our molecular panel identified TP53 c.817C>T (p.R273C) mutation. These findings were compatible with a sporadic tumor. Given that morphologically identical medullary tumors often occur in Lynch syndrome, it is possible that mismatch repair loss is an early event in sporadic tumors with p53 mutation being a late event. Despite having wild-type BRAF, this tumor is sporadic and unrelated to Lynch syndrome. This case report demonstrates that coordinate ancillary studies are needed to resolve sporadic versus hereditary rare tumors.
Homozygous familial hypercholesterolemia: case series and review of the literature
Authors: Carlos H Palacio, Theresa R Harring, N Thao T Nguyen, John A Goss, Christine A O'Mahony
Journal: Case Rep Transplant (2011)
MeSH terms: Case Reports

Introduction. Familial hypercholesterolemia (FH) is caused by nonfunctioning low-density lipoprotein (LDL) receptors, resulting in high serum cholesterol. Two types of FH are described: the heterozygous form is diagnosed in adults and responds well to medical therapy; the homozygous form is rare, diagnosed in children, and often requires multiple treatments to prevent complications. Cholesterol accumulation in tissues produces common clinical manifestations including cutaneous xanthomas, coronary artery disease, and aortic stenosis. Treatment options consist of lifestyle modifications, lipid-lowering medications, LDL aphaeresis, and orthotopic liver transplantation (OLT). Case Presentation. Two patients with FH presented at young ages due to characteristic cutaneous xanthomas. The patients underwent cardiac testing that revealed atherosclerotic changes. The patients received maximal medical therapy, but only experienced a small decrease in serum cholesterol and LDL levels. After several years of medical treatment without improvement of symptoms, the patients were listed for OLT. The transplantations were successful, and only one patient had a postoperative complication of acute rejection, treated successfully. Currently, both patients are doing well with regression of the cutaneous xanthomas and atherosclerotic changes. Conclusion. OLT is a safe and effective option for patients with homozygous FH refractory to maximal medical therapy and may represent the optimal treatment for these patients.
Extraosseous Multiple Myeloma: Case Report of Presentation in the Lower Extremity Soft Tissues with Literature Review
Authors: Jeff Ames, Ahmad Al-Samaraee, Takashi Takahashi
Journal: Case Rep Radiol (2017)
MeSH terms: Case Reports

A rare presentation of extramedullary multiple myeloma in the soft tissues of the bilateral thighs prompted a literature review of published cases of extramedullary multiple myeloma (EM-MM) and solitary plasmacytomas to determine the relative anatomic distribution of these lesions. All available published cases in English were included in the analysis, dating back to 1966 and including 2,538 extramedullary myeloma or solitary plasmacytoma lesions. Analysis of the anatomic location of EM-MM lesions demonstrates the majority being in the upper airway (33.8%), soft tissues including retroperitoneum and abdomen (14.1%), gastrointestinal tract (10.3%), central nervous system, head and neck (16.0%), and GU (2.4%). We were able to find only 44 documented cases of extremity soft tissue lesions, comprising 1.7% of all lesions.