Health check revealed elevation of creatine kinase related to hypothyroidism [0.03%]
健康检查发现肌酸激酶升高与甲状腺功能减退有关
Xiaoqing Luo,Yamei Quan,Gaodi Luo
Xiaoqing Luo
Summary: It is relatively rare to find a significant increase in creatine kinase (CK) related to hypothyroidism through a health examination. This case report describes an asymptomatic adult patient in whom an asymptomati...
Bilateral adrenal masses and adrenal insufficiency: a rare case of primary adrenal lymphoma [0.03%]
双侧肾上腺肿物及肾上腺功能减退症的一例原发性肾上腺淋巴瘤罕见病例报告
Aya Eladl,Maria Michaelidou,Adam Gibb et al.
Aya Eladl et al.
Summary: Primary adrenal lymphoma (PAL) is a rare malignancy typically considered in patients presenting with features of adrenal insufficiency and bilateral adrenal gland enlargement. Early diagnosis and differentiation ...
Diabetic ketoacidosis as the initial presentation of hepatogenous diabetes: a first reported case [0.03%]
肝源性糖尿病的初期表现为糖尿病酮症酸中毒：首例报道病例
Mhd Kutaiba Albuni,Shahem Abbarh,Noheir Ashraf Ibrahem Fathy Hassan et al.
Mhd Kutaiba Albuni et al.
Summary: Hepatogenous diabetes, a secondary form of diabetes arising from chronic liver disease, particularly cirrhosis, is a well-documented complication. However, diabetic ketoacidosis (DKA) in the context of hepatogeno...
Acute-onset type 1 diabetes in an older patient with severe hypothermia and diabetic ketoacidosis (pH 6.84) triggered by traumatic hemothorax [0.03%]
由创伤性血胸触发的严重低体温和糖尿病酮症酸中毒（pH 6.84）引发的老年1型糖尿病急性发作病例
Hono Kawashima,Mayu Watanabe,Momoka Hasegawa et al.
Hono Kawashima et al.
Summary: A 77-year-old Japanese woman with a history of spinocerebellar degeneration, recently diagnosed with mild glucose intolerance managed by diet, sustained blunt chest trauma from a fall 7 days before admission. Thr...
Bilateral pheochromocytoma as a late presentation of neurofibromatosis type 1 [0.03%]
神经纤维瘤病1型的晚期表现为双侧嗜铬细胞瘤
Helena Urbano Ferreira,Maria Luísa Sacramento,Juliana Gonçalves et al.
Helena Urbano Ferreira et al.
Summary: Neurofibromatosis type 1 (NF1) is an autosomal dominant condition predisposing to tumors, including pheochromocytomas and paragangliomas. Reported penetrance is close to 100%, but clinical presentation is highly ...
Reversibly reduced lipoprotein lipase in APOA5 c.553G>T-related hypertriglyceridemia successfully treated with pemafibrate [0.03%]
APOA5 c.553G>T相关高甘油三酯血症的可逆性脂蛋白脂肪酶减少症用 pemafibrate 治疗成功案例
Shozo Miyauchi,Yuji Utsunomiya,Masashi Okamoto et al.
Shozo Miyauchi et al.
Summary: We report the case of a 47-year-old woman with severe hypertriglyceridemia due to a homozygous APOA5 c.553G>T (p.Gly185Cys) mutation. She presented with markedly elevated triglyceride levels (TG, 1,047 mg/dL) tha...
Progression of diabetic retinopathy during pregnancy in a woman with ABCC8-MODY [0.03%]
ABCC8基因突变糖尿病患者妊娠期间糖尿病视网膜病变进展
Patrick McCluskey,Mairéad T Crowley,Cosmina Barac et al.
Patrick McCluskey et al.
Summary: Activating mutations in the ABCC8 gene are extremely rare and cause ABCC8-MODY. The phenotype is variable with onset of diabetes in childhood/early adulthood. Retinopathy is the most common reported complication....
RFX6 maturity-onset diabetes of the young: clinical considerations and novel use of tirzepatide [0.03%]
RFX6 成年发病型糖尿病：临床考虑及司美格鲁肽的新用途
Prethivan Pillai Gopalakrishnan,Amit Banerjee,Rachael Milne et al.
Prethivan Pillai Gopalakrishnan et al.
Summary: RFX6 maturity-onset diabetes of the young (RFX6-MODY) is a relatively new MODY subtype, with limited guidance on management, particularly in pregnancy. We report the clinical features and management of two female...
Multidisciplinary diagnosis and treatment of iatrogenic Cushing syndrome in a patient with obsessive-compulsive disorder [0.03%]
一名强迫症患者医源性库欣综合征的多学科诊断与治疗
Ruixue Sun,Shuang Liu,Hong Han et al.
Ruixue Sun et al.
Summary: Iatrogenic Cushing syndrome caused by topical corticosteroid preparations is only reported in infants. We describe a case in a patient with obsessive-compulsive disorder: the patient had tic disorder and obsessiv...
Papillary thyroid carcinoma in thyroglossal duct cyst: a Peruvian case series [0.03%]
舌骨甲状囊肿的乳头状甲状腺癌：秘鲁病例系列
José Luis Paz-Ibarra,Marialejandra Delgado Rojas,Edward Paucar Holgado et al.
José Luis Paz-Ibarra et al.
Summary: Papillary thyroid carcinoma (PTC) is the most frequent type of differentiated thyroid cancer, while thyroglossal duct cysts (TGDCs) are common congenital anomalies of the neck. The coexistence of PTC within a TGD...