OpenMed/multicare-articles huggingface dataset:
Detection of Silent Type I Choroidal Neovascular Membrane in Chronic Central Serous Chorioretinopathy Using En Face Swept-Source Optical Coherence Tomography Angiography
Authors: Magdy Moussa, Mahmoud Leila, Hagar Khalid, Mohamed Lolah
Journal: J Ophthalmol (2017)

Purpose:
To evaluate the efficacy of SS-OCTA in the detection of silent CNV secondary to chronic CSCR compared to that of FFA and SS-OCT.
Patients and methods:
A retrospective observational case series reviewing the clinical data, FFA, SS-OCT, and SS-OCTA images of patients with chronic CSCR, and comparing the findings. SS-OCTA detects the CNV complex and delineates it from the surrounding pathological features of chronic CSCR by utilizing the blood flow detection algorithm, OCTARA, and the ultrahigh-definition B-scan images of the retinal microstructure generated by swept-source technology. The bivariate correlation procedure was used for the calculation of the correlation matrix of the variables tested.
Results:
The study included 60 eyes of 40 patients. Mean age was 47.6 years. Mean disease duration was 14.5 months. SS-OCTA detected type 1 CNV in 5 eyes (8.3%). In all 5 eyes, FFA and SS-OCT were inconclusive for CNV. The presence of foveal thinning, opaque material beneath irregular flat PED, and increased choroidal thickness in chronic CSCR constitutes a high-risk profile for progression to CNV development.
Conclusion:
Silent type 1 CNV is an established complication of chronic CSCR. SS-OCTA is indispensable in excluding CNV especially in high-risk patients and whenever FFA and SS-OCT are inconclusive.
Lymphangioma of the Mesentery: Case Report and Review of the Literature
Authors: Neda Gendvilaitė, Julius Drachneris, Tomas Poškus
Journal: Acta Med Litu (2021)
Keywords: lymphangioma, lymphatic system, mesenterium
MeSH terms: Case Reports

Background:
Lymphangioma of the mesentery is a rare benign condition. Lymphangioma usually occurs in children during first few years of life most likely because of congenital abnormality of the lymphatic system. It may also be caused by trauma, lymphatic obstruction, surgery, inflammatory process, or radiotherapy. Lymphangioma of the mesentery represents less than 1% of all lymphangiomas and about 70% of abdominal lymphangiomas.
Case presentation:
We report the case of the 42-year-old woman who was diagnosed with the lymphangioma. Laparotomy was performed. A cystic lymph-filled tumor of about 12 cm in diameter was removed from the ileum mesentery.
Conclusions:
Lymphangioma of the mesentery is a rare condition. Despite its benign nature, it can cause serious complications if not treated. Ultrasound and CT are used for detection of lymphangioma. It is important to surgically remove the lymphangiomas even in the absence of symptoms.
Varied presentations of pancreatic insulinoma: a case report
Authors: Pueya Rashid Nashidengo, Francis William Quayson, John Tabiri Abebrese, Lahja Negumbo, Cornell Enssle, Fredrick Kidaaga
Journal: Pan Afr Med J (2022)
Keywords: covid-19, insulinoma, case report, neuroendocrine tumours, tumour enucleation
MeSH terms: COVID-19, Insulinoma / diagnosis, Insulinoma / surgery, Neuroendocrine Tumors, Pancreatic Neoplasms / diagnosis, Pancreatic Neoplasms / surgery, Case Reports, Adult, Female, Humans, Pandemics

An insulinoma is a rare functional pancreatic neuroendocrine tumour that is usually sporadic and solitary. The hallmark is hypersecretion of insulin, which leads to neuroglycopenia symptoms and uncontrolled sympathoadrenal activity. Neuroendocrine tumours can have a varied presentation, with symptoms often ascribed to a different diagnosis, thus delaying correct diagnosis and treatment. We present the case of a 26-year-old female who had a 3-year delay before diagnosing insulinoma after being initially assessed with epilepsy and schizophrenia. The case report below provides a detailed review of the diagnosis, tumour localization, and surgical interventions implemented for the patient during the COVID-19 pandemic.
Hypothermia in Multiple Sclerosis: Beyond the Hypothalamus? A Case Report and Review of the Literature
Authors: Francesco Berti, Zeeshan Arif, Cris Constantinescu, Bruno Gran
Journal: Case Rep Neurol Med (2018)
MeSH terms: Case Reports

Hypothermia is a rare and poorly understood complication of Multiple Sclerosis (MS). We report on a 66-year-old patient currently with Secondary Progressive MS (SP-MS) who developed unexplained hypothermia associated with multiple hospitalisations and we review the literature on this topic. In our case, magnetic resonance imaging (MRI) of the brain failed to highlight hypothalamic disease, but spinal MRI identified a number of spinal cord lesions. Given the incidence and clinical significance of spinal involvement in MS and the hypothermic disturbances observed in high Spinal Cord Injury (SCI), we hypothesise that upper spinal cord pathology, along with hypothalamic and brainstem dysfunctions, can contribute to hypothermia.
Case Report: Baló's Concentric Sclerosis-Like Lesion in a Patient With Relapsing-Remitting Multiple Sclerosis Treated With Dimethyl Fumarate
Authors: Karolina Kania, Wojciech Ambrosius, Wojciech Kozubski, Alicja Kalinowska
Journal: Front Neurol (2022)
Keywords: baló concentric sclerosis, baló disease, mri, dimethyl fumarate, multiple sclerosis
MeSH terms: Case Reports

Baló's concentric sclerosis (BCS) is a rare demyelinating disorder characterized by acute or subacute neurological symptoms associated with characteristic lesions of concentric onion skin appearance on MRI images and in pathology. The connection between BCS and classic MS is still a subject of debates. Our report presents a case of a patient who developed a symptomatic Baló-like lesion following several years of classical relapsing-remitting multiple sclerosis treated with dimethyl fumarate.
The Unexpected Diagnosis of Hepatic Tuberculosis in an Immunocompetent Patient
Authors: Nikolaos Garmpis, Christos Damaskos, Anna Garmpi, Aliki Liakea, Dimitrios Mantas
Journal: Case Rep Surg (2020)
MeSH terms: Case Reports

Background/aim:
Tuberculosis (TB) is a chronic infectious disease which affects millions. The most affected system is the respiratory. Thus, hepatic TB (HTB) without involvement of other organs is not common. Its clinical manifestations are not specific, and both imaging and histopathological findings are necessary for the diagnosis. The differential diagnosis includes primary and metastatic liver malignancies. Our aim is to describe the rare entity of HTB via a case presentation. Patient and Methods. We report a case of a 50-year-old female with abdominal pain, weight loss, fever, and anorexia. All imaging methods described a liver lesion. She underwent right lobe hepatectomy, and the histological evaluation demonstrated granuloma with central caseous necrosis.
Results:
Seven months postoperatively, the patient remains fit and healthy.
Conclusion:
HTB is a rare entity with no specific symptoms, signs, and no laboratory nor imaging findings. It can be managed effectively if diagnosed in time or lead to death if left untreated.
Giant Cell Fibroma in a Paediatric Patient: A Rare Case Report
Authors: Veera Kishore Kumar Reddy, Naveen Kumar, Prashant Battepati, Lalitha Samyuktha, Swapna Priya Nanga
Journal: Case Rep Dent (2015)

Giant cell fibroma is a form of fibrous tumour affecting the oral mucosa. Its occurrence is relatively rare in paediatric patients. Clinically it is presented as a painless, sessile, or pedunculated growth which is usually confused with other fibrous lesions like irritation fibromas. Here we are presenting a case where a seven-year-old male patient reported with a painless nodular growth in relation to lingual surface of 41 and 42. Considering the size and location of the lesion, excisional biopsy was performed and sent for histopathological analysis which confirmed the lesion as giant cell fibroma.
An alternative treatment of hyperlipidemia with red yeast rice: a case report
Authors: James S Lin
Journal: J Med Case Rep (2010)

Introduction:
Hyperlipidemia is prevalent and is highly associated with coronary heart disease. Some patients are reluctant or opt not to take lipid-lowering prescription medications for fear of adverse drug reactions. There are currently few well-designed randomized controlled trials showing the possibility of reducing cholesterol using red yeast rice. Meanwhile, adverse effects have also been reported.
Case presentation:
A 64-year-old Asian man was diagnosed with hyperlipidemia despite a healthy lifestyle. In addition to diet changes, the patient used red yeast rice and succeeded in lowering his level of serum lipids.
Conclusion:
Based on this case and a review of current literature, in addition to therapeutic lifestyle change, red yeast rice may be a useful alternative treatment for primary hyperlipidemia in patients with low cardiac risk and who refuse to take any lipid-lowering prescription medication or who maybe be statin intolerant.However, primary care physicians must be aware of the potential side effects of taking red yeast rice.
Isolated renal metastasis from squamous cell lung cancer
Authors: Jun Cai, Gai Liang, Zhiqiang Cai, Ting Yang, Shuang Li, Jiyuan Yang
Journal: Multidiscip Respir Med (2013)
MeSH terms: Case Reports

Renal metastasis from non-small cell lung cancer is rather uncommon. The mechanism underlying the occurrence of metastasis in this site is still not well understood. We report a case of a 53-year-old Chinese woman who had moderately differentiated squamous cell carcinoma of the lung. After a ten months post-surgery interval of disease free survival, computed tomography (CT) scan found that left renal parenchymal was occupied by a mass, confirmed by kidney biopsy to be a metastasis from squamous cell lung carcinoma. Based on this case, we are warned to be cautious in diagnosis and treatment when renal lesion are detected.
Ocular Manifestations of a Novel Proximal 19p13.3 Microdeletion
Authors: L Swan, D Coman
Journal: Case Rep Genet (2018)
MeSH terms: Case Reports

Microdeletions at 19p13.3 are rarely reported in the medical literature with significant phenotypic variability. Among the reported cases, common clinical manifestations have included developmental delay, facial dysmorphism, and hypotonia. Herein we described a child with a de novo 19p13.3 microdeletion, proximal to the reported cases of 19p13.3 microdeletion/duplication, with ocular manifestations of bilateral ocular colobomata complicated with microphthalmos and cataract, associated with short stature. This case highlights the phenotypic heterogeneity of deletions in the 19p13.3 region.
Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in ASL in a Chinese Han Patient with Argininosuccinate Lyase Deficiency
Authors: Mei Zhao, Lingling Hou, Huajing Teng, Jinchen Li, Jiesi Wang, Kunlin Zhang, Lin Yang
Journal: Biomed Res Int (2019)
MeSH terms: Argininosuccinate Lyase / genetics, Argininosuccinate Lyase / metabolism, Argininosuccinic Aciduria / enzymology, Argininosuccinic Aciduria / genetics, Exome Sequencing, Heterozygote, Mutation, Missense, Case Reports, Amino Acid Substitution, Citrulline / blood, Citrulline / genetics, HEK293 Cells, Humans, Infant, Male, Citrulline, Argininosuccinate Lyase

Pathogenic variants in the argininosuccinate lyase (ASL) gene have been shown to cause argininosuccinate lyase deficiency (ASLD); therefore, sequencing analysis offers advantages for prenatal testing and counseling in families afflicted with this condition. Here, we performed a genetic analysis of an ASLD patient and his family with an aim to offer available information for clinical diagnosis. The research subjects were a 23-month-old patient with a high plasma level of citrulline and his unaffected parents. Whole-exome sequencing identified potential related ASL gene mutations in this trio. Enzymatic activity was detected spectrophotometrically by a coupled assay using arginase and measuring urea production. We identified a novel nonsynonymous mutation (c.206A>G, p.Lys69Arg) and a stop mutation (c.637C>T, p.Arg213∗) in ASL in a Chinese Han patient with ASLD. The enzymatic activity of a p.Lys69Arg ASL construct in human embryonic kidney 293T cells was significantly reduced compared to that of the wild-type construct, and no significant activity was observed for the p.Arg213∗ construct. Compound heterozygous p.Lys69Arg and p.Arg213∗ mutations that resulted in reduced ASL enzyme activity were found in a patient with ASLD. This finding expands the clinical spectrum of ASL pathogenic variants.
Advanced Alveolar Soft Part Sarcoma Treated with Pazopanib over Three Years
Authors: Yoji Shido, Yukihiro Matsuyama
Journal: Case Rep Oncol Med (2017)
MeSH terms: Case Reports

Alveolar soft part sarcoma (ASPS) is a rare malignant tumor that generally occurs in adolescents and young adults. It progresses slowly, but lung and brain metastases often occur in the early phase of the clinical course, and chemotherapy has been reported as not being effective for ASPS. Pazopanib is a multitargeted tyrosine kinase inhibitor that has been clinically available from November 2012 in Japan. This is a case report of a patient presented with multiple lung metastases and unresectable primary abdominal ASPS. We initially treated this patient by systemic chemotherapy with combination use of ifosfamide and doxorubicin. Stable disease was observed without any objective response. Then, we finally started to administrate pazopanib 800 mg/day. After 25 months of pazopanib administration, slight tumor reduction and a decrease of enhancement were observed. Objective responses were achieved for both the primary tumor and metastatic lung tumor; however, a newly developed brain metastasis was subsequently identified. Based on this case, pazopanib appears effective against ASPS, except for brain metastases. This case suggests that pazopanib may be useful as a first-line drug against unresectable ASPS and that longitudinal assessment of brain metastasis should be performed in similar cases.
KRAS Mutation in Serous Borderline Tumor of the Testis: Report of a Case and Review of the Literature
Authors: Sarah Bouri, Jean-Christophe Noël, Xavier Catteau, Walid Al Hajj Obeid, Ilyas Svistakov, Thierry Roumeguère, Nicky D'Haene, Sandrine Rorive
Journal: Case Rep Urol (2020)
MeSH terms: Case Reports

Ovarian-like epithelial tumors of the testis, including serous borderline tumors, are rare entities. We report the case of a 60-year-old man with a left intratesticular mass who had a radical orchidectomy. Histologically, the tumor was identical to the ovarian counterpart showing a well-delineated cystic lesion characterized by intraluminal papillae. The papillae are lined by atypical cuboidal or ciliated cells and are associated with psammoma bodies. The tumor cells express cytokeratin 7 (CK7), cytokeratin 5-6 (CK5-6), cancer antigen 125 (CA125), estrogen (ER), progesterone (PR), Wilm's tumor gene (WT1), paired box gene 8 (PAX8), Ber-EP4, and epithelial membrane antigen (EMA). The diagnosis of a serous borderline tumor of the testis was proposed. Mutation testing using next-generation sequencing showed a Q61K KRAS gene mutation. To the best of our knowledge, this is the second case report of a serous borderline tumor of the testis with a Q61K KRAS gene mutation.
Case Report: Metagenomic Next-Generation Sequencing Clinches the Diagnosis of Acute Q Fever and Verified by Indirect Immunofluorescence Assay
Authors: Yide Yang, Qingmiao Shi, Qian Jin, Zhangnv Yang, Wangfang Li, Jianfeng Han, Juanjuan Mao, Beiwen Zheng
Journal: Front Med (Lausanne) (2022)
Keywords: coxiella burnetii, q fever, case report, indirect immunofluorescence assay, metagenomic next-generation sequencing

Q fever is a zoonotic infectious disease caused by Coxiella burnetii. The clinical symptoms of acute Q fever are usually atypical, and routine serological tests of C. burnetii are not readily available, making the diagnosis of Q fever a challenge. In this case, we report a male patient who had repeated fevers and was administered empirical anti-infective treatment, but the effect was poor. After conducting relevant laboratory and imagological examinations, the etiology has not yet been confirmed. Subsequently, metagenomic next-generation sequencing (mNGS) identified the sequence reads of C. burnetii from the patient's peripheral blood within 48 h, and then the diagnosis of acute Q fever was established. Moreover, the serological test of indirect immunofluorescence assay (IFA) of the C. burnetii antibody was further performed in the Centers for Disease Control, certifying the result of mNGS. The patient was ultimately treated with doxycycline and recovered well. mNGS is an unbiased and comprehensive method in infrequent or culture-negative pathogen identification. To our knowledge, this is the first case of acute Q fever identified by mNGS and confirmed by IFA in Taizhou, China. A further large-scale prospective clinical cohort study is worth carrying out to compare the diagnostic efficiency of mNGS with traditional serological methods and PCR in acute Q fever.
A de novo DDX3X Variant Is Associated With Syndromic Intellectual Disability: Case Report and Literature Review
Authors: Yun Chen, Kai-Yu Liu, Zai-Lan Yang, Xiao-Huan Li, Rui Xu, Hao Zhou
Journal: Front Pediatr (2020)
Keywords: ddx3x gene, exome sequencing, female, intellectual disability, variants
MeSH terms: Case Reports

De novo DDX3X variants account for 1%-3% of intellectual disability (ID) in females and have been occasionally reported in males. Here, we report a female patient with severe ID and various other features, including epilepsy, movement disorders, behavior problems, sleep disturbance, precocious puberty, dysmorphic features, and hippocampus atrophy. With the use of family-based exome sequencing, we identified a de novo pathogenic variant (c.1745dupG/p.S583*) in the DDX3X gene. However, our patient did not present hypotonia, which is considered a frequent clinical manifestation associated with DDX3X variants. While hand stereotypies and sleep disturbance have been occasionally associated with the DDX3X spectrum, hippocampus atrophy has not been reported in patients with DDX3X-related ID. The investigation further expands the phenotype spectrum for DDX3X variants with syndromic intellectual disability, which might help to improve the understanding of DDX3X-related intellectual disability or developmental delay.
ST Elevations in the Era of COVID-19
Authors: Charlie Joseph Sang 3rd, Brittain Heindl, Gregory Von Mering, Brigitta Brott, Robert S Kopf, Indranee Rajapreyar
Journal: Case Rep Cardiol (2020)
MeSH terms: Case Reports

Myocardial injury, represented by elevated cardiac enzymes, has been associated with increased morbidity and mortality in severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) infections. Coronavirus disease 2019 (COVID-19) has created unique challenges in approaching patients with acute ST-segment changes. We describe two distinct cases of ST elevation on electrocardiogram occurring in patients with COVID-19 and review important diagnostic and management considerations for the front-line clinician.
Sudden Consecutive Bilateral Amaurosis Secondary to Central Retinal Artery Occlusion After Kidney Transplantation
Authors: Daniela Rego-Lorca, Bárbara Burgos-Blasco, Francisco Javier Moreno-Morillo, Alicia Valverde-Megías, José Ignacio Fernández-Vigo
Journal: Cureus (2023)
Keywords: acute blindness, central retinal artery occlusion, postoperative complications, stroke, transplantation
MeSH terms: Case Reports

Central retinal artery occlusion (CRAO) is a medical emergency, considered a stroke equivalent by the American Heart Association. There are a few reported cases of bilateral CRAO, most of them occurring in the context of a systemic predisposing condition. We present a case of bilateral CRAO following kidney transplantation. This 58-year-old man suffered CRAO in the right eye 24 hours after having kidney transplantation surgery. Treatment with an intravenous bolus of high-dose corticosteroids and full-dose anticoagulation therapy was initiated. However, 48 hours later, the patient suffered contralateral CRAO, resulting in irreversible bilateral amaurosis. CRAO is a rare but devastating complication of non-ophthalmological surgery and must be considered in postoperative patients with visual complaints. CRAO may have different causal mechanisms, but due to the similarity of their clinical manifestations, accurate etiology is not always easy to establish. Given the importance of an early diagnosis, all physicians should know about its risk factors and be aware of how patients with suspected CRAO must be rapidly referred for general and ophthalmological evaluation.
Antenatal diagnosis of extralobar pulmonar sequestration
Authors: El Mhabrech Houda, Zrig Ahmed, Ksia Amine, Ben Salem Amina, Faleh Raja, Hafsa Chiraz
Journal: Pan Afr Med J (2014)
Keywords: extralobar pulmonary sequestration, mri, antenatal diagnosis, ultrasonography
MeSH terms: Bronchopulmonary Sequestration / diagnosis, Magnetic Resonance Imaging, Prenatal Diagnosis, Case Reports, Adult, Female, Humans, Pregnancy, Ultrasonography, Prenatal

Extralobar pulmonary sequestrations (ELS) are masses of non-functioning lung tissue that are supplied by an anomalous systemic artery and do not have a bronchial connection to the native tracheobronchial tree. On prenatal ultrasonography, an ELS appears as a well-defined echodense, homogeneous mass. Detection by color flow Doppler ultrasonography of a systemic artery from the aorta to the fetal lung lesion is a pathognomonic feature of fetal ELS. MR imaging may help in the diagnosis of pulmonary sequestration by demonstrating a solid, well-defined mass, and the feeding artery. In this case report, we describe the sonographic and MR diagnosis of an ELS in a fetus at 22 weeks gestation with a review of the available literature.
Remdesivir therapy causing bradycardia in COVID-19 patients: Two case reports
Authors: Alaaeldin Abdelmajid, Wala Osman, Huda Musa, Hisham Elhiday, Waqar Munir, Muna A Al Maslamani, Eman Zeyad Elmekaty
Journal: IDCases (2021)
Keywords: bradycardia, covid-19, remdesivir, sars-cov-2, viral pneumonia
MeSH terms: Case Reports

The coronavirus disease 2019 (COVID-19) pandemic has been an enormous public health challenge. The pursuit for an effective therapy led to the use of the antiviral drug Remdesivir for hospitalized patients with severe COVID-19 pneumonia. We reported two cases of patients with severe COVID-19 pneumonia and worsening oxygen requirements. Both patients developed sinus bradycardia following the initiation of Remdesivir therapy and reverted after stopping it. One of the patients developed QTc interval prolongation and required intensive care unit admission. The proposed mechanism for Remdesivir-induced bradycardia and cardiac toxicity could be due to the intrinsic electrophysiological properties and the effect on the AV node; yet, further large observational studies are warranted for better understanding and correlation of Remdesivir with cardiac adverse events. Till then, healthcare providers need to be alert of this potential adverse event and to monitor their COVID-19 patients closely while on Remdesivir therapy.