Fetal Kabuki syndrome caused by a novel gene variation in KMT2D with primary carnitine deficiency: a case report [0.03%]
由KMT2D基因新型变异引起的胎儿卡布奇诺综合征并原发性肉碱缺乏症1例报告
Qing-Bo Shen,Xin Feng,Ai-Ping Min et al.
Qing-Bo Shen et al.
Background: Kabuki syndrome (KS) is an autosomal dominant syndrome involving multiple organs and systems and can be caused by mutation in KMT2D and KDM6A genes. ...
Vrinda Bhardwaj,Chelsea C Okoro,Saloni Dangoria et al.
Vrinda Bhardwaj et al.
Background: Children diagnosed with eosinophilic esophagitis (EoE) often require repeated esophagogastroduodenoscopy (EGD) procedures to monitor disease progression and treatment response. These procedures typically invol...
Severe hyperglycemic hyperosmolar state complicated by diabetic ketoacidosis and rhabdomyolysis in an obese adolescent patient: a case report [0.03%]
肥胖青少年患者出现严重高血糖高渗性状态并伴有糖尿病酮症酸中毒和横纹肌溶解症的病例报告
Hongwei Wang,Fenhua Wang,Bin Yu et al.
Hongwei Wang et al.
Background: In the pediatric population, glucose metabolism-associated disorders most commonly manifest as diabetic ketoacidosis (DKA). Hyperglycemic hyperosmolar state (HHS) is a rare yet potentially grave condition in c...
Hypoparathyroidism-related Fahr syndrome presenting with new-onset seizures: a case report [0.03%]
低甲状旁腺素血症相关的Fahr病伴发新发癫痫发作的病例报告
Sishir Poudel,Laxman Wagle,Aashutosh Jha et al.
Sishir Poudel et al.
Background: Hypocalcemia secondary to hypoparathyroidism can cause basal ganglia calcification which can act as epileptogenic focus and produce neuropsychiatric manifestations. This is termed Fahr syndrome. ...
Mondor's disease of the breast in a patient living with sickle cell disease: a case report [0.03%]
与镰状细胞病共患的乳腺蒙多尔病的一例报告
Jochebed Adwoa Sutherland,James Kojo Prah,Mary Amoakoh-Coleman
Jochebed Adwoa Sutherland
Background: Mondor's disease of the breast is a rare benign clinical condition characterised by sclerosing thrombophlebitis occurring in subcutaneous veins of the breast. Typically, a tender, palpable cord in the affected...
Moist wound healing theory in neonatal aplasia cutis congenita: a case report [0.03%]
湿润理论在新生儿先天性皮肤缺损中的应用:1例报告
Xiaoting Ke,Xiaoyan Zhao,A&#x;fen Ding et al.
Xiaoting Ke et al.
Key message: This clinical case demonstrates complete epithelialization of a neonatal scalp defect through staged application of moist wound dressings (silver, foam, hydrogel) that controlled inflammation, managed exudate...
Concurrent psoriatic arthritis and autoimmune hepatitis in a patient with psoriasis: a case report [0.03%]
一名银屑病患者的并发性银屑病关节炎和自身免疫性肝炎的病例报告
Yazan AlHabil,Nael Arr,Mustafa A Shahrori et al.
Yazan AlHabil et al.
Background: Psoriasis is a chronic, autoimmune skin disorder that can be associated with systemic comorbidities, including psoriatic arthritis (PsA). The coexistence of psoriasis, PsA, and autoimmune hepatitis (AIH) is un...
Cabozantinib-related pneumothorax in responsive patients with renal cell carcinoma: a case report [0.03%]
一例对肾细胞癌有治疗反应的患者出现卡博替尼相关气胸的病例报告
Keiko Kodaka,Toru Inakawa,Hidekazu Kuramochi
Keiko Kodaka
Background: Cabozantinib is a multi-kinase inhibitor that has been shown to be effective in the treatment of unresectable or metastatic renal cell carcinoma and unresectable hepatocellular carcinoma that worsened after an...
Management of severe tardive dyskinesia induced by arpiprazole in a schizophrenic patient: a case report [0.03%]
阿立哌唑致严重迟发性运动障碍1例及其处理措施
Farzad Fayedeh,Mahya Mojahedi,Danial Gharaie Amirabadi
Farzad Fayedeh
Introduction: Tardive dyskinesia (TD) is a disabling movement disorder induced by prolonged administration of dopamine receptor-blocking agents, primarily high-potency first-generation antipsychotics. ...
Clinically presumed primary malignant melanoma of the parotid gland with extensive cervical lymph node metastasis: a case report [0.03%]
腮腺临床诊断为原发恶性黑色素瘤伴颈部广泛淋巴结转移的病例报告
Xinran Lin,Yafang Zhou,Minge Li et al.
Xinran Lin et al.
Background: Primary malignant melanoma of the parotid gland (PMMPG) is an exceedingly rare neoplasm, accounting for < 0.7% of all parotid malignancies. Differentiating it from metastatic melanoma to the parotid is clinica...