Autosomal Dominant Calpainopathy in a Diabetic Patient Complicated by Functional Gitelman Syndrome [0.03%]
一名合并功能型Gitelman综合征的糖尿病患者中的自动显性钙蛋白病病例报告
Kabilash Manivalli Peterpalaniswami,Krishnaswamy Madhavan,Gerry George Mathew et al.
Kabilash Manivalli Peterpalaniswami et al.
Adult-onset Gitelman syndrome with calpainopathy is a rare clinical condition in patients with diabetes mellitus. We present the case of a 52-year-old male diabetic patient who presented with muscle weakness and fatigue. On evaluation, he h...
The Reclassification of a FBN1 Variant of Unknown Significance Associated With Marfan Syndrome Through Careful Clinical Correlation and Family-Based Evaluation [0.03%]
通过仔细的临床相关性和基于家系的评估重新分类与马方综合征相关的FBN1意义未明变异体
Dominique Bouhamdani,Véronique Allain,Nadia Bouhamdani et al.
Dominique Bouhamdani et al.
Background:Fibrillin-1 (FBN1) is a major structural component of the extracellular matrix, providing strength and stability to tissues. Pathogenic variants lead to the development of FBN1-associated syndromes which comprise a broad host of ...
Uremic Pericarditis in a Patient With Hyperphosphatemic Familial Tumoral Calcinosis: Case Report [0.03%]
高磷血症家族性肿瘤钙化病患者的尿毒症心包炎：病例报告
Rana A Nabalawi
Rana A Nabalawi
Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare hereditary disorder characterized by defective phosphate homeostasis, leading to ectopic calcium deposition in soft tissues. This case report describes a 41 year-old Jordanian m...
Permanent Congenital Hypothyroidism due to Rare Thyroglobulin Gene Variant (p.Cys1476Arg): A Delayed Diagnosis of Thyroid Dyshormonogenesis [0.03%]
由于罕见的甲状腺球蛋白基因变异（p.Cys1476Arg）导致永久性先天性甲状腺功能减退症：甲状腺激素生成障碍延迟诊断病例报告
Ghassan Mohamadsalih,Khalid Al Bureshad,Idris Mohammed et al.
Ghassan Mohamadsalih et al.
Thyroid dyshormonogenesis is an inherited hypothyroidism caused by a monogenic defect, in the vast majority of cases, in thyroid hormone biosynthesis. It is commonly associated with thyroid enlargement which is vulnerable to nodule formatio...
Spontaneous Sublingual Hematoma in a COVID-19 Patient on Heparin Therapy: A Case Report and Review of Management Challenges [0.03%]
他汀类药物治疗COVID-19患者的自发性舌下血肿一例及管理挑战综述
Mohsen Golkar,Anita Taheri,Milad Baseri et al.
Mohsen Golkar et al.
COVID-19 is associated with a hypercoagulable state, often managed with anticoagulation therapy to prevent thrombotic events. However, anticoagulation can lead to rare but serious bleeding complications. We present the case of a 62-year-old...
Severe Presentation of Cannabinoid Hyperemesis Syndrome With Mixed Acid-Base Disorder and Cardiac Complications: A Case Report [0.03%]
以混合酸碱紊乱和心脏并发症为严重表现的联胺诱发的周期性呕吐综合征1例报告
Giovanni Mantelli,Armando Fiore,Caterina Barberi et al.
Giovanni Mantelli et al.
Background: Cannabinoid hyperemesis syndrome (CHS) is a condition characterized by cyclic abdominal pain, vomiting, and nausea, primarily affecting adolescents and adults with a history of chronic cannabis use. The diagnosis of CHS is clini...
Sigmoid Colon Intussusception Secondary to Giant Colonic Submucosal Lipoma: A Case Report [0.03%]
巨大结肠粘膜下脂肪瘤继发乙状结肠套叠1例报告
Mohammed Alessa
Mohammed Alessa
Background: Lipoma is one of the benign tumors that originate from adipose tissue, most likely in the neck, chest, back, shoulders, arms, and thighs. It is rare to find lipoma originating from submucosal adipose tissue. Colonic submucosal l...
Pembrolizumab-Associated Multiorgan Sarcoid-Like Reaction: A Case Report and Review of Literature [0.03%]
派姆单抗相关多器官类肉芽肿反应的一例报告及文献复习
Majd Enayah,Tameem Al-Aqtash
Majd Enayah
Background: Immune checkpoints are molecules that serve to augment or inhibit the immune response. The treatment landscape for numerous tumors now relies significantly on immune checkpoint inhibitors (ICIs). Pembrolizumab, a subset of ICIs ...
Nonsurgical Management of Furcation Defects Using Cervical Sealing With Calcium-Silicate Cements: A Clinical Case Series [0.03%]
根尖封闭剂处理牙间乳头炎临床病例系列研究
Saeed Asgary
Saeed Asgary
Furcation defects pose significant challenges in endodontic and periodontal therapy due to their complex anatomy and limited accessibility. Achieving a reliable seal at the apical/cervical/coronal levels is critical for long-term treatment ...
Small Supernumerary Marker Chromosome (sSMC) 15 in Male Primary Infertility: A Case Study [0.03%]
男性原发性不育小额外染色体15号标记染色体(sSMC)的病例研究
Filomena Mottola,Renata Finelli,Veronica Feola et al.
Filomena Mottola et al.
This case report describes a 39-year-old phenotypically normal male patient of a married couple with primary infertility presenting as candidates for assisted reproductive techniques. The medical history of the couple is unremarkable, with ...