OpenMed/multicare-articles huggingface dataset:
Acute visual loss after ipilimumab treatment for metastatic melanoma
Authors: Melissa A Wilson, Kelly Guld, Steven Galetta, Ryan D Walsh, Julia Kharlip, Madhura Tamhankar, Suzanne McGettigan, Lynn M Schuchter, Leslie A Fecher
Journal: J Immunother Cancer (2016)
Keywords: checkpoint inhibitors, immune, ipilimumab, melanoma, optic neuritis, side effects
MeSH terms: Antineoplastic Agents, Immunological / adverse effects, Ipilimumab / adverse effects, Melanoma / complications, Vision Disorders / diagnosis, Vision Disorders / etiology, Case Reports, Research Support, N.I.H., Extramural, Acute Disease, Antineoplastic Agents, Immunological / therapeutic use, Biomarkers, Brain / pathology, CTLA-4 Antigen / antagonists & inhibitors, Fluorescein Angiography, Humans, Ipilimumab / therapeutic use, Magnetic Resonance Imaging, Male, Melanoma / drug therapy, Melanoma / pathology, Middle Aged, Molecular Targeted Therapy / adverse effects, Neoplasm Metastasis, Optic Nerve / pathology, Vision Tests, Antineoplastic Agents, Immunological, Biomarkers, CTLA-4 Antigen, Ipilimumab

Background:
Ipilimumab, a humanized CLTA-4 antibody is a standard therapy in the treatment of advanced melanoma. While ipilimumab provides an overall survival benefit to patients, it can be associated with immune related adverse events (IrAEs).
Case presentation:
Here we describe a patient treated with ipilimumab who experienced known IrAEs, including hypophysitis, as well as a profound vision loss due to optic neuritis. There are rare reports of optic neuritis occurring as an adverse event associated with ipilimumab treatment. Furthermore, the patient experienced multiple complications from high dose steroids used to manage his IrAEs.
Conclusions:
This case highlights the need for recognition of atypical immune mediated processes associated with newer checkpoint inhibitor therapies including ipilimumab.
A New Report of Combined Central and Peripheral Demyelination: A Case Report
Authors: Foziah Alshamrani, Rawan Alyami, Ibrahim Alghanimi, Reef Alajaji, Modhi Alkhaldi, Abdulla Alamri
Journal: Front Neurol (2021)
Keywords: gq1b, mri, combined central and peripheral demyelinating disease, miller-fisher syndrome, multiple sclerosis, radiologically isolated syndrome
MeSH terms: Case Reports

Combined central and peripheral demyelination (CCPD) is not encountered frequently in the clinical practice, and it requires a high level of suspicion for diagnosis. We describe a case of a young man who was diagnosed with radiologically isolated syndrome (RIS) after presenting initially with symptoms suggestive of central nervous system (CNS) insult in the form of double vision, slurred speech, left-sided numbness, and unsteadiness. However, on the next day of admission, his neurological examination was remarkable for ataxia, areflexia, and ophthalmoplegia, the typical triad of Miller Fisher syndrome (MFS). After confirming both diagnoses, the final diagnosis of CCPD was made. The challenges one may face to diagnose and treat CCPD urge sharing of similar cases to open the door for further extensive and thorough investigations and to encourage further studies and analysis of available data to come up with consolidated management guidelines for rare disorders.
A therapeutic and diagnostic dilemma: granular cell tumor of the breast
Authors: Ahmet Pergel, Ahmet Fikret Yucel, A Serdar Karaca, Ibrahim Aydin, Dursun Ali Sahin, Nilgun Demirbag
Journal: Case Rep Med (2011)
MeSH terms: Case Reports

Six to eight percent of granular cell tumors are seen in the breast. Although mostly benign, they rarely have malignant features clinically and radiologically reminding of breast cancer. This may lead to a potential misdiagnosis of breast carcinoma and overtreatment of patients. The final diagnosis is made by immunohistochemical examination. We performed excisional biopsy on a patient who was diagnosed to have a breast mass. The histopathological examination of the mass revealed granular cell tumor.
The clinical and virological features of two children's coinfections with human adenovirus type 7 and human coronavirus-229E virus
Authors: Shelan Liu, An Zhu, Jinren Pan, Lihong Ying, Wanwan Sun, Hanting Wu, Haiying Zhu, Haiyan Lou, Lan Wang, Shuwen Qin, Zhao Yu, Jian Cai, Yin Chen, Enfu Chen
Journal: Front Public Health (2022)
Keywords: hadv-ad7, case-control study, children, coinfections, human coronavirus-229e(hcov-229e), respiratory tract infections
MeSH terms: Adenoviruses, Human, Coinfection, Coronavirus, Case Reports, Research Support, Non-U.S. Gov't, Adolescent, Adult, Child, Hospitals, Humans, Male, Viral Load

Objective:
Human adenovirus (HAdV) coinfection with other respiratory viruses is common, but adenovirus infection combined with human coronavirus-229E (HCoV-229E) is very rare.
Study design and setting:
Clinical manifestations, laboratory examinations, and disease severity were compared between three groups: one coinfected with HAdV-Ad7 and HCoV-229E, one infected only with adenovirus (mono-adenovirus), and one infected only with HCoV-229E (mono-HCoV-229E).
Results:
From July to August 2019, there were 24 hospitalized children: two were coinfected with HAdV-Ad7 and HCoV-229E, and 21 were infected with a single adenovirus infection. Finally, one 14-year-old boy presented with a high fever, but tested negative for HAdV-Ad7 and HCoV-229E. Additionally, three adult asymptotic cases with HCoV-229E were screened. No significant difference in age was found in the coinfection and mono-adenovirus groups (11 vs. 8 years, p = 0.332). Both groups had the same incubation period (2.5 vs. 3 days, p = 0.8302), fever duration (2.5 vs. 2.9 days, p = 0.5062), and length of hospital stay (7 vs. 6.76 days, p = 0.640). No obvious differences were found in viral loads between the coinfection and mono-adenovirus groups (25.4 vs. 23.7, p = 0.570), or in the coinfection and mono-HCoV-229E groups (32.9 vs. 30.06, p = 0.067). All cases recovered and were discharged from the hospital.
Conclusion:
HAdV-Ad7 and HCoV-229E coinfection in healthy children may not increase the clinical severity or prolong the clinical course. The specific interaction mechanism between the viruses requires further study.
Volar Distal Radioulnar Joint Dislocation Associated with Acute Median Nerve Neuropathy and a Distal Radius Fracture
Authors: Naser Alnusif, Sultan Aldebeyan, Rudolf Reindl
Journal: Case Rep Orthop (2017)
MeSH terms: Case Reports

Volar distal radioulnar (DRUJ) dislocations are uncommon and can easily be missed. We present a rare case of an irreducible volar DRUJ dislocation associated with a distal radius fracture and acute median nerve neuropathy at the wrist. An attempt to reduce the DRUJ dislocation in the emergency department had failed. The patient was then taken to the operating room requiring a carpal tunnel release, as well as an open reduction and internal fixation of the distal radius fracture and repair of the volar distal radioulnar ligament. We also review some of the volar DRUJ case reports in the literature.
Case Report: Malignant Pheochromocytoma Without Hypertension Accompanied by Increment of Serum VEGF Level and Catecholamine Cardiomyopathy
Authors: Hideaki Kaneto, Shinji Kamei, Fuminori Tatsumi, Masashi Shimoda, Tomohiko Kimura, Shuhei Nakanishi, Yoshiyuki Miyaji, Atsushi Nagai, Kohei Kaku, Tomoatsu Mune
Journal: Front Endocrinol (Lausanne) (2021)
Keywords: blood pressure, catecholamine cardiomyopathy, malignant pheochromocytoma, noradrenaline, vascular endothelial growth factor
MeSH terms: Adrenal Gland Neoplasms / blood, Cardiomyopathies / blood, Pheochromocytoma / blood, Vascular Endothelial Growth Factor A / blood, Case Reports, Adrenal Gland Neoplasms / complications, Adrenal Gland Neoplasms / diagnostic imaging, Cardiomyopathies / diagnostic imaging, Cardiomyopathies / etiology, Humans, Male, Middle Aged, Pheochromocytoma / complications, Pheochromocytoma / diagnostic imaging, Tomography, X-Ray Computed, Vascular Endothelial Growth Factor A

Introduction:
Pheochromocytoma is a catecholamine-producing tumor in the adrenal medulla and is often accompanied by hypertension, hyperglycemia, hypermetabolism, headache, and hyperhidrosis, and it is classified as benign and malignant pheochromocytoma. In addition, persistent hypertension is often observed in subjects with malignant pheochromocytoma.
Case presentation:
A 52-year-old Japanese male was referred and hospitalized in our institution. He had a health check every year and no abnormalities had been pointed out. In addition, he had no past history of hypertension. In endocrinology markers, noradrenaline level was as high as 7,693 pg/ml, whereas adrenaline level was within normal range. Abdominal contrast-enhanced computed tomography revealed a 50-mm hyper-vascularized tumor with calcification in the right adrenal gland and multiple hyper-vascularized tumors in the liver. In 131I MIBG scintigraphy, there was high accumulation in the right adrenal gland and multiple accumulation in the liver and bone. In echocardiography, left ventricular ejection fraction was as low as 14.3%. In coronary angiography, however, there was no significant stenosis in the coronary arteries. Based on these findings, we finally diagnosed him as malignant pheochromocytoma accompanied by multiple liver and bone metastases and catecholamine cardiomyopathy. However, blood pressure was continuously within normal range without any anti-hypertensive drugs. Right adrenal tumor resection was performed together with left hepatic lobectomy and cholecystectomy. Furthermore, serum levels of vascular endothelial growth factor (VEGF) and parathyroid (PTH)-related protein were very high before the operation but they were markedly reduced after the operation.
Conclusions:
This is the first report showing the time course of serum VEGF level in a subject with malignant pheochromocytoma, clearly showing that malignant pheochromocytoma actually secreted VEGF. In addition, this case report clearly shows that we should bear in mind once again that malignant pheochromocytoma is not necessarily accompanied by hypertension.
18F-FDG PET/CT imaging and PET-guided biopsy in evaluation and treatment decision in adrenal histoplasmosis
Authors: Renjith Radhakrishnan Kalathoorakath, Aman Sharma, Ashwani Sood, Uma Nahar, Arun Kumar Reddy Gorla, Bhagwant Rai Mittal
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

Histoplasmosis is a rare opportunistic fungal infection. It is commonly seen in immunocompromised individuals from endemic areas. Adrenal glands are frequently involved in the disseminated disease. Here, we present the case of a retropositive patient with constitutional symptoms, where whole-body positron emission tomography/CT scan revealed intense 18F-fludeoxyglucose uptake in bulky adrenal glands, and subsequent positron emission tomography-guided biopsy helped in establishing the diagnosis of adrenal histoplasmosis.
Case Report: Evidences of myasthenia and cerebellar atrophy in a chinese patient with novel compound heterozygous MSTO1 variants
Authors: Liqun Liu, Ruiting Su, Peng Huang, Xingfang Li, Jie Xiong, Yangyang Xiao, Dingan Mao, Lingjuan Liu
Journal: Front Genet (2022)
Keywords: msto1, cerebellar atrophy, compound heterozygous variants, mitochondria, myasthenia
MeSH terms: Case Reports

Misato Mitochondrial Distribution and Morphology Regulator 1 (MSTO1) is a soluble cytoplasmic protein that regulates mitochondrial dynamics by promoting mitochondrial fusion. Variants in the MSTO1 gene cause a rare disease characterized by early-onset myopathy and cerebellar ataxia, with almost 30 cases reported worldwide. Here we report a case of a 3-year-old boy with novel heterozygous variants of the MSTO1 gene (c.1A>G (p.M1?) and c.727G>C(p.Ala243Pro)). Sequencing data and subsequent validation show that the two variants were inherited from the mother and father of the patient (both were heterozygous). The clinical features are infancy-onset mental and motor retardation, language disorder, dysarthria, scoliosis, cerebellar atrophy, tremor, lower-extremity muscle weakness, elevated muscle enzymes, extensive myopathy with chronic atrophy, hyperventilation lungs, and previously unreported hairy back and enlarged gastrocnemius. Finally, novel heterozygous MSTO1 variants were discovered in this case, which expands the gene spectrum and clinical phenotype of this type of disease, and provides a new direction for future treatment and research. Then we summarize the mutational spectrum, pathological, clinical features and imaging of MSTO1 variants in a cohort of reported 31 patients and discuss the pathogenesis of MSTO1 in humans.
A novel BCR-ABL1 fusion gene identified by next-generation sequencing in chronic myeloid leukemia
Authors: Xiaodong Lyu, Jingke Yang, Xianwei Wang, Jieying Hu, Bing Liu, Yu Zhao, Zhen Guo, Bingshan Liu, Ruihua Fan, Yongping Song
Journal: Mol Cytogenet (2016)
Keywords: bcr-abl1, chronic myeloid leukemia, imatinib, next-generation sequencing, sh3 domain, tyrosine kinase
MeSH terms: Case Reports

Background:
BCR-ABL1 fusion proteins contain constitutively active tyrosine kinases that are potential candidates for targeted therapy with tyrosine kinase inhibitors such as imatinib in chronic myeloid leukemia (CML). However, uncharacterized BCR-ABL1 fusion genes can be missed by quantitative RT-PCR (qRT-PCR)-based routine screening methods, causing adverse effect on drug selection and treatment outcome.
Case presentation:
In this study, we demonstrated that the next-generation sequencing (NGS) can be employed to overcome this obstacle. Through NGS, we identified a novel BCR-ABL1 fusion gene with breakpoints in the BCR intron 14 and the ABL1 intron 2, respectively, in a rare case of CML. Its mRNA with an e14a3 junction was then detected using customized RT-PCR followed by Sanger sequencing. Subsequently, the patient received targeted medicine imatinib initially at 400 mg/day, and later 300 mg/day due to intolerance reactions. With this personalized treatment, the patient's condition was significantly improved. Interestingly, this novel fusion gene encodes a fusion protein containing a compromised SH3 domain, which is usually intact in the majority of CML cases, suggesting that dysfunctional SH3 domain may be associated with altered drug response and unique clinicopathological manifestations observed in this patient.
Conclusion:
We identified a novel BCR-ABL1 fusion gene using NGS in a rare case of CML while routine laboratory procedures were challenged, demonstrating the power of NGS as a diagnostic tool for detecting novel genetic mutations. Moreover, our new finding regarding the novel fusion variant will provide useful insights to improve the spectrum of the genomic abnormalities recognizable by routine molecular screening.
A patient presenting with intact sensory modalities in acute spinal cord ischemia syndrome: a case report
Authors: Omar Abdel-Mannan, Imran Mahmud
Journal: J Med Case Rep (2011)

Introduction:
Acute spinal cord ischemia syndrome is a rare condition comprising a small fraction of neurovascular accidents, the majority of which occur within the cerebral circulation. The circulation of the spinal cord has several unique features that determine the clinical presentation.
Case presentation:
In this case of a 67-year-old Caucasian man who came to our emergency department with sudden-onset, severe right-sided pain and bilateral upper limb weakness, an atypical pattern of sensory deficit was observed. In this case report, we review acute spinal cord ischemia syndrome and consider the pathophysiology, diagnostic measures and prognostic factors associated with patient recovery.
Conclusion:
Acute spinal cord ischemia syndrome with atypical patterns of sensory deficit is uncommon. Clinicians must consider acute spinal cord ischemia syndrome when assessing all patients with acute neck pain and focal neurological deficits; atypical presentations can present a diagnostic challenge. Current knowledge of the long-term outcome in patients with spinal cord ischemia is based on only a few small studies, some of which are discussed here.
Simultaneous presentation of juvenile ossifying fibroma in the maxilla and mandible: a case report
Authors: Vildeman Rodrigues de Almeida Júnior, Joaquim de Almeida Dultra, Paloma Souza Gonçalves Cerqueira, Tarcísio Oliveira Donato Fernandes, Flávia Caló de Aquino Xavier, Jean Nunes Dos Santos, Águida Cristina Gomes Henriques
Journal: Int J Surg Case Rep (2020)
Keywords: fibro-osseous lesions, juvenile ossifying fibroma, ossifying fibroma
MeSH terms: Case Reports

Introduction:
Juvenile ossifying fibroma (JOF) is a controversial and uncommon lesion that has been distinguished from the larger group of ossifying fibromas because of distinct clinical features and some morphological peculiarities. Furthermore, JOF shows an aggressive biological behavior that has led researchers to consider it a benign neoplasm, resulting in its differential diagnosis with important benign and malignant bone neoplasms.
Presentation of case:
This study describes a case of synchronous presentation of JOF in the mandible and maxilla of a young patient. In addition, the literature was reviewed to identify clinical-pathologic features and possible factors that could help establish the correct diagnosis. A 26-year-old male patient presented simultaneously a lesion affecting the body, angle and ramus of the left mandible and another lesion in the left maxilla. Both lesions were well delimited and radiolucent, being unilocular in the maxilla and multilocular in the mandible. The mandibular lesion was partially resected and the maxillary lesion was submitted to curettage. The diagnosis was JOF.
Dicussion:
A delay in seeking medical care and a late diagnosis can have serious consequences for the postoperative functional and esthetic outcome. Much care should be taken during establishment of this diagnosis since an equivocal diagnosis can have serious consequences for the patient in terms of treatment.
Conclusion:
After 1 year, the patient shows no signs or symptoms of recurrence of the lesions and was referred for reconstructive surgery of the mandible. An early and correct diagnosis is necessary to permit the best therapeutic management.
Acute cytomegalovirus infection complicated by venous thrombosis: a case report
Authors: Clarisse Rovery, Brigitte Granel, Philippe Parola, Cédric Foucault, Philippe Brouqui
Journal: Ann Clin Microbiol Antimicrob (2005)
MeSH terms: Cytomegalovirus Infections / complications, Venous Thrombosis / etiology, Case Reports, Acute Disease, Adult, Factor V / genetics, Humans, Male, Mutation, factor V Leiden, Factor V

Background:
CMV-induced vasculopathy and thrombosis have been reported, but they are rare conditions usually encountered in immunocompromised patients. However more and more complications of CMV infections are recognized in immunocompetent patients.
Case presentation:
We present a case report of a previously healthy adult with cytomegalovirus infection that was complicated by tibiopopliteal deep venous thrombosis and in whom Factor V Leiden heterozygous mutation was found.
Conclusion:
This new case report emphasizes the involvement of cytomegalovirus in induction of vascular thrombosis in patients with predisposing risk factors for thrombosis. It is necessary to screen for CMV infection in patients with spontaneous thrombosis and an history of fever.
Bacterial pericarditis presenting as hemorrhagic pericardial effusion in a 6-year-old girl
Authors: Anita Saxena, Navneet Singh, S Ramakrishnan, Shyamsunder Kothari
Journal: Ann Pediatr Cardiol (2008)
Keywords: pericarditis, tamponade
MeSH terms: Case Reports

Hemorrhagic pericardial effusion is known to occur due to tuberculosis, malignancy, uremia or trauma. We present a rare case of a 6 year old girl with bacterial pericarditis who had hemorrhagic pericardial effusion with cardiac tamponade.
Central Retinal Artery Occlusion with Concomitant Intracranial Hemorrhage Secondary to Streptococcus Gordonii Endocarditis
Authors: Harshvardhan Chawla, Jonah S Goldblatt, John E Morgan, Bruce A Barron, Aravinda K Rao, Maria A Reinoso
Journal: Case Rep Ophthalmol Med (2023)
MeSH terms: Case Reports

Purpose:
To report a case of central retinal artery occlusion (CRAO) associated with subacute Streptococcus gordonii endocarditis secondary to a dental infection. Observations. A 27-year-old male presented with acute monocular vision loss in the setting of a stroke and seizure. A fundus exam revealed macular whitening and a cherry-red spot. Edema of the inner retinal layers was confirmed on macular optical coherence tomography, consistent with CRAO. Initial imaging (carotid Doppler, EKG, and transthoracic echocardiography) and a comprehensive laboratory workup did not reveal an etiology for the stroke or vision loss. Brain magnetic resonance imaging showed T1 hyperintensity with surrounding edema, which prompted a workup for possible septic emboli versus occult malignancy. Subsequent blood cultures led to the detection and diagnosis of Streptococcus gordonii endocarditis. It was subsequently revealed that the patient had self-extracted his molar two months prior to the onset of symptoms.
Conclusions:
Endocarditis has been associated with Roth spots and inflammatory findings in the posterior segment. However, CRAO caused by vegetal septic embolism is rare. To our knowledge, this represents the first reported case of endocarditic CRAO with Streptococcus gordonii confirmed as the causative microbe. Retinal vascular occlusion in a young patient with no distinct risk factors should prompt a comprehensive dental history and infectious workup, with consideration given to early transesophageal echocardiography.
Obsessive-compulsive disorder post-COVID-19: a case presentation
Authors: Abdulmajeed A Alkhamees
Journal: Egypt J Neurol Psychiatr Neurosurg (2021)
Keywords: covid-19, ocd, pandemic
MeSH terms: Case Reports

Background:
Since the emergence of the COVID-19 pandemic and the significant changes that impacted because of it, people around the world have been left dealing with its consequences-fear of becoming ill and dying, fear of losing loved ones, uncertainty about the future, and imposed social isolation-several elements which could lead to psychological consequences. Moreover, as suggested by recent evidence, the virus acts as a factor in causing psychological symptoms, including depression, anxiety, fatigue, and post-traumatic stress disorder.
Case presentation:
Here, we report a case of a patient with new-onset OCD after his recovery from the coronavirus disease, which presented in the form of recurrent and persistent intrusive thoughts and doubts which responded to medication.
Conclusions:
This case shows the potential of COVID-19-associated inflammatory triggers to precipitate or induce obsessive-compulsive symptoms. Although this case cannot support causation, it does stress the bidirectional effects that physical and mental illness share.