OpenMed/multicare-articles huggingface dataset:
Rice body synovitis in pediatrics: three different case reports
Authors: Liping Wang, Yingying Jin, Hua Huang, Zhen Yang, Fei Ding, Xuemei Xu, Chenxi Liu, Shengfang Bao, Xiqiong Han, Jing Ma, Yanliang Jin, Haiqing Cai
Journal: Front Pediatr (2024)
Keywords: children, histology, imaging, rice body, synovitis
MeSH terms: Case Reports

Rice body synovitis (RBS) is a rare disease, especially in children. Rheumatoid disorders and tuberculosis are the first two reasons for the formation of the RB. The diagnosis is mainly based on imaging and histopathological features. Herein, we report three cases of RBS in children diagnosed with congenital synovial chondromatosis, tuberculosis (unconfirmed), and ANA -positive juvenile idiopathic arthritis. Clinical features, radiographic findings, pathophysiology, treatment process, and prognosis were reviewed and documented meticulously to enhance cognition in this population and provide some references for clinicians in diagnosing and treating the disease.
The Importance of a PM&R Consultation for Becker Muscular Dystrophy Patients Admitted with Cardiomyopathy
Authors: Neyha Cherin, Shivani Patel, Michelle Jukic
Journal: Case Rep Cardiol (2024)
MeSH terms: Case Reports

Becker muscular dystrophy (BMD) is a rare genetic disorder that is associated with significant cardiac compromise, including heart failure and cardiomyopathy. Given the significant cardiac impact of the disease, patients are commonly hospitalized under the care of cardiologists. While it is imperative to address the acute cardiac challenges these patients face, it is crucial to not disregard the musculoskeletal derangement that occurs from this underlying disease and how acute hospitalization can exacerbate these issues. While literature focuses heavily on providing management protocols to address these acute cardiac complications, it is also important for providers to feel supported in addressing the functional implications that hospitalized BMD patients may face. An early PM&R consultation in the inpatient setting can be useful in identifying and addressing the functional impairments and subsequent comorbidities of BMD patients. PM&R teams can provide oversight from multiple avenues including the psychosocial, neurocognitive, durable medical equipment, and pain management perspectives and assist with transition of care to the postacute rehabilitation setting. The ultimate goal of the PM&R provider is to work alongside the primary service and patient in order to assist with retaining independence, improving patient satisfaction, and most importantly improving quality of life both inside and outside of the hospital setting.
Use of Baricitinib in a patient with treatment-resistant pyoderma gangrenosum
Authors: Kaylin Bechard, Robert Gniadecki
Journal: SAGE Open Med Case Rep (2024)
Keywords: immunology, inflammatory dermatoses, wound
MeSH terms: Case Reports

Pyoderma gangrenosum is a rare inflammatory neutrophilic disorder with no uniformly effective therapy and limited high-level evidence. Common therapies include immunosuppressive and immunomodulating agents. There exist several case series using small molecules as treatment modalities. Here, we report a case of a 78-year-old female with a diagnosis of pyoderma gangrenosum and metastatic high-grade serous carcinoma of the ovary who was treated with Baricitinib 4 mg daily in combination with a tapering course of prednisone after failing other conventional therapies including systemic corticosteroids, colchicine, and intravenous immunoglobulin.
Case report: Olverembatinib monotherapy: the chemotherapy-free regimen for an elderly patient with relapsed Ph-positive acute lymphoblastic leukemia
Authors: Jianghua Ding, Wen Li
Journal: Front Pharmacol (2023)
Keywords: b-cell, acute lymphoblastic leukemia, elderly, olverembatinib, philadelphia chromosome
MeSH terms: Case Reports

Background: The advent of first- and second-generation BCR/ABL1 tyrosine kinase inhibitors (TKIs), such as imatinib and dasatinib, has markedly improved the clinical outcomes of patients with philadelphia chromosome-positive acute lymphoblastic leukemia (Ph+-ALL). However, due to acquired drug resistance, most Ph+-ALL patients experience relapse. Thus, third-generation BCR/ABL1 TKIs, including ponatinib and olverembatinib, have been developed with the aim of overcoming drug resistance. Case report: A 79-year-old woman presented with intermittent fever and fatigue for 4 days. After comprehensive cytogenetic examination, the patient was diagnosed with Ph+-B-ALL. Starting on 22 September 2021, a combined regimen of flumatinib and vincristine/prednisone (VP) was administered for seven cycles, followed by flumatinib maintenance therapy. The patient remained in first complete molecular remission (1st CMR) for 19 months. On 12 March 2023, she again complained of fatigue and loss of appetite for nearly a month. A comprehensive examination showed Ph+-B-ALL relapse with additional E255V mutation, although T315I mutation was negative. In view of her frail physical condition, she received olverembatinib monotherapy and achieved second CMR (second CMR). No severe toxicities were recorded except for mild fatigue. At present, she has been in second CMR for over 6 months. Conclusion: For elderly patients with relapsed Ph+-ALL, olverembatinib monotherapy may offer a novel option with a good safety profile, suggesting the feasibility of a chemo-free regimen.
Incidental Diagnosis of Williams Syndrome in an Adult With Recurrent Hypercalcemia
Authors: Seth Tersteeg, Vladimer Bakhutashvili, Margaret Crook, Heather A Ferris
Journal: JCEM Case Rep (2024)
Keywords: williams syndrome, williams-beuren syndrome, recurrent hypercalcemia
MeSH terms: Case Reports

Williams syndrome (WS) is a rare genetic disorder with multisystem involvement associated with hypercalcemia. The cause of this hypercalcemia is poorly understood and while primarily associated with WS children, it is also observed in adults. A 51-year-old woman with intellectual disability, renal insufficiency, recurrent pancreatitis, and intermittent hypercalcemia despite partial parathyroidectomy presented with hypercalcemia to 14 mg/dL (3.49 mmol/L; normal 8.6-10.5 mg/dL [2.12-2.62 mmol/L]) at routine follow-up. Laboratory testing was notable for acute-on-chronic renal failure with unremarkable vitamin D, urine calcium, and parathyroid hormone. She presented to the emergency department and was admitted. Treatment with bisphosphonates, calcitonin, and intravenous fluids decreased calcium to 9.4 mg/dL (2.35 mmol/L) and improved kidney function. She was discharged with recommendations for increased oral hydration, a low-calcium diet, and outpatient follow-up. Her phenotype was suspicious for WS, later confirmed with genetic testing. This case exemplifies both the increased risk of hypercalcemia in WS adults and the need to consider WS in hypercalcemic adults with intellectual disability. It also serves to illustrate the importance of recognizing WS features in potentially undiagnosed adults and reviews guidelines for hypercalcemia surveillance and management in WS adults.
Composite Lymphoma with Follicular Lymphoma Transformation to Clonally Related Epstein-Barr Virus (EBV) Positive Diffuse Large B-Cell Lymphoma and EBV-PositiveClassic Hodgkin Lymphoma
Authors: Christopher B Ryder, Hayder Saeed, Mohammad Hussaini
Journal: Case Rep Hematol (2023)
MeSH terms: Case Reports

While the Epstein-Barr virus (EBV) is known to drive de novo lymphomagenesis, it may rarely contribute to transformation of indolent lymphoma as well. Some EBV-related lymphomas represent a diagnostic challenge with important prognostic and therapeutic implications. We describe a case of follicular lymphoma (FL) transformation to both EBV + diffuse large B-cell lymphoma (DLBCL) and EBV + classic Hodgkin lymphoma (cHL), the latter of which was only identified retrospectively after selective outgrowth during DLBCL therapy. Finally, we describe successful salvage therapy with brentuximab vedotin plus nivolumab. This is the first known case of composite lymphoma with FL, EBV + DLBCL, and EBV + cHL within a single lymph node. The disease course highlights the importance of careful morphologic examination and comprehensive immunophenotypic characterization of EBV + lymphomas to ensure proper clinical care and underscores the potential for novel therapies currently under investigation. This trial is registered with NCT01671813.
Brucellosis-induced peritonitis and abdominal aortitis in a non-endemic area patient on peritoneal dialysis: a case report and literature review
Authors: Yiqi Huang, Xingyu Zhu, Weigang Shen, Yueping Wang, Meixiang Han
Journal: Front Med (Lausanne) (2024)
Keywords: abdominal aortitis, brucella, case report, peritoneal dialysis, peritonitis
MeSH terms: Case Reports

Background:
Brucella infection is uncommon among peritoneal dialysis (PD) patients in non-endemic areas, and the occurrence of both peritonitis and abdominal aortitis is rare.
Case presentation:
In December 2023, a 63-year-old male patient undergoing PD was admitted to Shaoxing Second Hospital due to fever, abdominal pain, and cloudy dialysate. Upon physical examination, diffuse mild abdominal pain and tenderness were observed. Subsequent investigation into the patient's medical history revealed consumption of freshly slaughtered lamb from local farmers 3 days prior to the onset of symptoms. Various diagnostic tests, including routine blood tests, procalcitonin levels, and PD fluid analysis, indicated the presence of infection. Abdominal computed tomography (CT) imaging revealed localized lumen widening of the abdominal aorta with surrounding exudative changes. On the sixth day in the hospital, blood and PD fluid cultures confirmed Brucella melitensis infection. The patient was diagnosed with brucella-associated peritonitis and aortitis. Treatment was adjusted to include rifampin and doxycycline for 6 weeks, and the decision was made to keep the PD catheter. Remarkably, the patient exhibited resolution of peritonitis and abdominal aortitis within the initial week of the adjusted treatment. Currently, the patient continues to receive ongoing clinical monitoring.
Conclusion:
Brucella is rare but can cause PD-associated peritonitis and arteritis. Prompt diagnosis and treatment can lead to a good outcome in PD patients. Dual therapy is effective, but the need for catheter removal is unclear. Consider international guidelines and patient factors when deciding on catheter removal.
First case report of a novel KIF13A-ALK fusion in a lung adenocarcinoma patient and response to alectinib with a 4-year follow-up
Authors: Zheng Mo, Cunliang Cai, Jingjing Yao, Jingquan Zhao, Mingqiang Zhang, Hao Liu, Xiangdong Mu
Journal: Front Genet (2023)
Keywords: alectinib, anaplastic lymphoma kinase (alk fusion), case report, kinesin family member 13a (kif13a), lung adenocarcinoma

The prevalence of Anaplastic Lymphoma Kinase gene (ALK) fusion is about 5% among patients with lung adenocarcinoma, underscoring the importance of pinpointing distinct fusion variants for optimizing treatment approaches. This is the first reported case of a 74-year-old female with stage IV lung adenocarcinoma, featuring a novel Kinesin Family Member 13A (KIF13A)-ALK fusion, identified via next-generation sequencing (NGS) and confirmed with fluorescence in situ hybridization (FISH). Initially undergoing chemotherapy and then crizotinib, she achieved a partial response (PR) before progressing with multiple bone metastases. However, subsequent treatment with alectinib as a third-line option yielded positive results. A stable disease state persisted for an impressive 31 months of progression-free survival (PFS), accompanied by minimal toxicity symptoms. Up until now, a remarkable near 4-year span of overall survival (OS) has been consistently observed and monitored. This report of a KIF13A-ALK fusion case benefit significantly from alectinib with extensive follow-up. The case diversifies the array of ALK fusion partners and holds clinical relevance in refining therapeutic choices for KIF13A-ALK fusion-associated lung cancer.
Case report: Paralytic ileus resulted from nirmatrelvir/ritonavir-tacrolimus drug-drug interaction in a systemic lupus erythematosus patient with COVID-19
Authors: Wei Zhang, Xingguo Zhang, Jinming Han, Wen Zhang, Jiarui Xu, Xin Zhang, Hongjun Bian, Chong Meng, Deya Shang, Yi Zhou, Dawei Wang, Baobao Feng
Journal: Front Pharmacol (2024)
Keywords: covid-19, drug-drug interaction, nirmatrelvir-ritonavir, paralytic ileus, systemic lupus erythematosus
MeSH terms: Case Reports

Patients with systemic autoimmune rheumatic diseases are at a high risk for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection and effective antiviral treatments including nirmatrelvir/ritonavir can improve their outcomes. However, there might be potential drug-drug interactions when these patients take nirmatrelvir/ritonavir together with immunosuppressants with a narrow therapeutic window, such as tacrolimus and cyclosporine. We present a case of paralytic ileus resulting from tacrolimus toxicity mediated by the use of nirmatrelvir/ritonavir in a patient with systemic lupus erythematosus (SLE). A 37-year-old female SLE patient was prescribed nirmatrelvir/ritonavir without discontinuing tacrolimus. She presented to the emergency room with symptoms of paralytic ileus including persistent abdominal pain, nausea, and vomiting, which were verified to be associated with tacrolimus toxicity. The blood concentration of tacrolimus was measured >30 ng/mL. Urgent medical intervention was initiated, while tacrolimus was withheld. The residual concentration was brought within the appropriate range and tacrolimus was resumed 8 days later. Physicians must be aware of the potential DDIs when prescribing nirmatrelvir/ritonavir, especially to those taking immunosuppresants like tacrolimus.
Broad ligament ectopic pregnancy at 18 weeks: diagnosis and management in a resource-limited setting (a case report)
Authors: Madye Ange Ngo Dingom, Jovanny Fouogue Tsuala, Junie Annick Metogo Ntsama, Wilfried Loïc Meukem Tatsipie, Diane Estelle Kamdem, Jean Marie Alima, Félix Essiben
Journal: Pan Afr Med J (2023)
Keywords: broad ligament, case report, diagnosis, ectopic pregnancy
MeSH terms: Broad Ligament / pathology, Broad Ligament / surgery, Pregnancy, Abdominal / diagnosis, Pregnancy, Abdominal / surgery, Case Reports, Adult, Female, Gestational Age, Humans, Male, Pregnancy, Resource-Limited Settings, Salpingectomy, Young Adult

Broad ligament ectopic pregnancy is a relatively rare condition described in the literature. We did not find enough data concerning this subject in Cameroon. It is therefore important to know about its existence because late management can lead to increased maternal mortality. This paper reports the case of a 22-year-old lady at 18 weeks gestation who had generalized abdominal pain for two months. Prior to her arrival at our service, an abdominal and pelvic ultrasound done revealed a viable singleton 18-weeks intra-abdominal pregnancy with a moderate amount of abdominal fluid collection. The diagnosis of haemorrhagic shock complicating an abdominal pregnancy at 18 weeks of gestation was retained. An emergency laparotomy was done, and a right total salpingectomy and oophorectomy with resection of the right broad ligament were carried out. After surgery, dissection of the mass revealed a non-viable male foetus weighing 218 grams. In conclusion, there´s a very high morbidity and mortality rate associated with broad ligament pregnancies. Due to the fact that there is late access to antenatal care, the prognosis of pathologic pregnancies is endangered.
Case report: Identification of facioscapulohumeral muscular dystrophy 1 in two siblings with normal phenotypic parents using optical genome mapping
Authors: Jieni Jiang, Xiaotang Cai, Haibo Qu, Qiang Yao, Tiantian He, Mei Yang, Hui Zhou, Xuemei Zhang
Journal: Front Neurol (2024)
Keywords: disease penetrance, facioscapulohumeral muscular dystrophy 1, germline mosaicism, low-level mosaicism, methylation analysis, molecular diagnosis, optical genome mapping, sibling patient
MeSH terms: Case Reports

Objective:
Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is one of the most common forms of autosomal-dominant muscular dystrophies characterized by variable disease penetrance due to shortened D4Z4 repeat units on 4q35. The molecular diagnosis of FSHD1 is usually made by Southern blotting, which is complex, time-consuming, and lacks clinical practicality. Therefore, in this study, optical genome mapping (OGM) is employed for the genetic diagnosis of FSHD1. Furthermore, epigenetic heterogeneity is determined from methylation analysis.
Methods:
Genomic DNA samples from four members of the same family were subjected to whole-exome sequencing. OGM was used to identify structural variations in D4Z4, while sodium bisulfite sequencing helped identify the methylation levels of CpG sites in a region located distally to the D4Z4 array. A multidisciplinary team collected the clinical data, and comprehensive family analyses aided in the assessment of phenotypes and genotypes.
Results:
Whole-exome sequencing did not reveal variants related to clinical phenotypes in the patients. OGM showed that the proband was a compound heterozygote for the 4qA allele with four and eight D4Z4 repeat units, whereas the affected younger brother had only one 4qA allele with four D4Z4 repeat units. Both the proband and her younger brother were found to display asymmetric weakness predominantly involving the facial, shoulder girdle, and upper arm muscles, whereas the younger brother had more severe clinical symptoms. The proband's father, who was found to be normal after a neurological examination, also carried the 4qA allele with eight D4Z4 repeat units. The unaffected mother exhibited 49 D4Z4 repeat units of the 4qA allele and a minor mosaic pattern with four D4Z4 repeat units of the 4qA allele. Consequently, the presence of the 4qA allele in the four D4Z4 repeat units strongly pointed to the occurrence of maternal germline mosaicism. The CpG6 methylation levels were lower in symptomatic patients compared to those in the asymptomatic parents. The older sister had lower clinical scores and ACSS and higher CpG6 methylation levels than that of her younger brother.
Conclusions:
In this study, two siblings with FSHD1 with phenotypically normal parents were identified by OGM. Our findings suggest that the 4qA allele of four D4Z4 repeats was inherited through maternal germline mosaicism. The clinical phenotype heterogeneity is influenced by the CpG6 methylation levels. The results of this study greatly aid in the molecular diagnosis of FSHD1 and in also understanding the clinical phenotypic variability underlying the disease.
A bleeding heart: case report and review of pericardial angiosarcoma
Authors: Ujjwal Madan, Himil Mahadevia, Parth Sharma, Satya Preetham Gunta, Ossama Tawfik, Karen Fritchie, Julian Magadan
Journal: Autops Case Rep (2024)
Keywords: cardiac tamponade, docetaxel, gemcitabine, pericardial effusion, sarcoma
MeSH terms: Case Reports

Primary cardiac tumors are rare. The cardiac sarcomas are the most common malignant cardiac tumors. These tumors have a dismal prognosis with an overall median survival of 25 months. Clinical features include dyspnea, arrhythmias, pericardial effusions, heart failure, and sudden cardiac death. The diagnosis is often challenging. Therefore, the cardiac imaging workup plays a central role in addition to a high clinical suspicion in the setting of atypical presentations that do not respond to standard therapies. The echocardiography, computed tomography, and cardiac MRI are crucial in clinching the diagnosis. Multimodal treatment with surgery, chemotherapy, and radiotherapy has been shown to improve outcomes, as opposed to using either of these modalities alone. We describe the case of a 30-year-old gentleman with COVID-19 infection who developed recurrent hemorrhagic pericardial effusions refractory to standard treatment and was eventually diagnosed as a case of pericardial angiosarcoma after his biopsy revealed the diagnosis and staging was performed using PET-CT-FDG scan. Our case re-emphasizes the importance of considering a malignant etiology early in the course of the disease presentation, especially in recurrent hemorrhagic effusions despite an inflammatory cytologic diagnosis of fluid. It also highlights the place for cardiac CT and MRI to ascertain the location and spread and to plan the further course of treatment. If diagnosed early, the estimated survival time can be prolonged by instituting a multimodal approach.
Case Report: Stereotactic body radiation treatment for immunotherapy escaped oligometastatic progression in cutaneous melanoma and merkel cell carcinoma
Authors: Karam Khaddour, Alice Zhou, Omar Butt, Jiayi Huang, George Ansstas
Journal: Front Oncol (2023)
Keywords: ctdna, immunotherapy, melanoma, merkel cell carcinoma, oligometastatic progression, stereotactic body radiation therapy
MeSH terms: Case Reports

Oligometastatic progression represents a unique manifestation of tumor immune-escape that can lead to disease progression during treatment with immune checkpoint inhibitor (ICI). The diagnosis and further optimal management of oligometastatic progression through ICI remains unclear. Diagnostic challenges include practical limitations due to the anatomical sites of oligometastatic progression, such as the para-aortic region, where traditional tissue biopsy carries high risk, and circulating-tumor DNA (ctDNA) could aid in diagnosis and disease monitoring as a supplement to surveillance imaging. In this report, we describe two cases of one patient with metastatic melanoma and the other with metastatic Merkel cell carcinoma (MCC) who were treated with ICI and later developed localized resistance due to oligometastatic progression. We further highlight our experience using stereotactic body radiation therapy (SBRT) as a salvage approach to treat the oligometastatic progression. In addition, we describe the temporal and dynamic relationship of circulating-tumor DNA (ctDNA) prior to, during and after SBRT, which highly suggested the diagnosis without obtaining a histological specimen. Our cases highlight a potential role for SBRT in the management of oligometastatic progression. However, large prospective trials are essential to confirm the utility of this approach.
Bing-Neel Syndrome: An Unknown GCA Mimicker
Authors: Arifa Javed, Sadia Arooj Javed, Barbara Ostrov, Jiang Qian, Khoa Ngo
Journal: Case Rep Rheumatol (2024)
MeSH terms: Case Reports

Giant cell arteritis (GCA) is a chronic granulomatous vasculitis of medium and large arteries leading to cranial and extracranial manifestations. Temporal artery biopsy is considered the gold standard; however, its sensitivity is low at 47%. We report a unique case of Bing-Neel Syndrome (BNS) presenting as biopsy-proven GCA. BNS is a rare complication (1%) of Waldenstrom Macroglobulinemia (WM), which results from infiltration of lymph plasmacytoid cells and plasma cells into the central nervous system. A 77-year-old female with a past medical history of glaucoma, hypertension, diabetes, and chronic ocular ischemic syndrome in her right eye presented with progressive left eye vision loss for 5 days. Fundoscopic examination was notable for pseudophakic pseudopallor but no optic disc edema. Intraocular pressure was >40 and normalized after acetazolamide. The patient was started on pulse dose steroids by her neuro-ophthalmologist. She was discharged home on 60 mg of prednisone. At follow up with her neuro-ophthalmologist, new dot blot hemorrhages in the left eye were noted and she was readmitted for pulse dose of intravenous methylprednisolone. Temporal artery biopsy was consistent with GCA spectrum. Work up revealed paraproteinemia and subsequent bone marrow biopsy demonstrated WM. The patient was treated for her WM and her ophthalmic complications stabilized.