Pre-gestational diabetes in a young woman with a pathogenic INSR missense mutation, p.(Met1180Lys) [0.03%]
年轻女性因INSR错义突变（p.(Met1180Lys)）导致妊娠前期糖尿病病例报告
Emma L Prehn,Mairéad Crowley,David Fennell et al.
Emma L Prehn et al.
Summary: Heterozygous insulin receptor (INSR) mutations cause type A insulin resistance (IR), associated with a phenotype of IR; hyperandrogenism, oligomenorrhoea and acanthosis nigricans in the absence of obesity or lipo...
Type 2 diabetes remission through lifestyle intervention in a geriatric patient with long-standing diabetes and at thirty-three-months follow-up [0.03%]
长期患有糖尿病的老年人通过生活方式干预实现2型糖尿病缓解并进行为期33个月的随访监测
Pramod Tripathi,Diptika Tiwari,Milanjeet Kaur Raizada et al.
Pramod Tripathi et al.
Summary: Type 2 diabetes (T2D) is a chronic metabolic disorder that affects millions of people worldwide, particularly the elderly population. Remission of T2D in elderly patients through lifestyle modifications has been ...
Yasutaka Kuniyoshi,Satoru Takahashi
Yasutaka Kuniyoshi
Summary: Rett syndrome (RS) is an X-linked neurodevelopmental disorder primarily affecting females. RS and diabetes mellitus (DM) type 1 are rare disorders with distinct etiologies. Although some cases of RS complicated b...
1,25-Vitamin D-mediated hypercalcaemia in the setting of immune therapy-related sarcoid-like reaction [0.03%]
免疫治疗相关的类肉芽肿反应引起的1,25-维生素D介导的高钙血症
R K Dharmaputra,N Sheriff,S Ravichandran
R K Dharmaputra
Summary: We presented a case of a 72-year-old male with severe hypercalcaemia of 3.84 mmol/L following the second cycle of immunotherapy with ipilimumab and nivolumab in the setting of metastatic melanoma with known bone ...
The onset of Type 3C diabetes mellitus in a young female due to distal pancreatectomy for solid pseudopapillary neoplasm [0.03%]
青年女性因浆液性囊腺瘤行远端胰腺切除术后发生3C型糖尿病
Ayaka Harada,Takatoshi Anno,Kohei Kaku et al.
Ayaka Harada et al.
Summary: Solid pseudopapillary neoplasm (SPN) is classified as an epithelial tumor identified from benign to low-grade malignant tumor. It is a relatively rare tumor among various pancreatic tumors and is generally observ...
A very low carbohydrate diet improved metabolic profile in congenital generalized lipodystrophy type 4 [0.03%]
一种极低生碳饮食可改善获得性泛脂代谢不良综合征患者的代谢指标
Sayantan Chakraborty,Subhankar Roy,Debaditya Das et al.
Sayantan Chakraborty et al.
Summary: A 17-year-old girl presented with recurrent attacks of acute pancreatitis, associated with severe hyperglycemia and hypertriglyceridemia, despite being on intensive insulin therapy for the last 10 years. She had ...
Elodie Gruneisen,Ji Wei Yang,Melissa-Rosina Pasqua
Elodie Gruneisen
Summary: Oral levothyroxine (LT4) is prescribed worldwide for hypothyroidism. Bariatric surgery for patients with obesity has shown a substantial, long-term weight loss and considerable improvement of obesity-related dise...
Adult hypophosphatasia presenting with recurrent acute joint pain [0.03%]
以反复发作的急性关节痛为表现的成人低磷血症性佝偻病/hypophosphatasia病例报告
Hayao Yoshida,Takaaki Murakami,Atsubumi Ogawa et al.
Hayao Yoshida et al.
Summary: Hypophosphatasia (HPP) is a genetic disorder due to pathological variants in ALPL, the gene encoding tissue-nonspecific alkaline phosphatase (ALP). HPP is typically associated with bone-related symptoms, such as ...
Pseudohypoparathyroidism type 1A presenting as short stature and congenital hypothyroidism [0.03%]
以身材矮小和先天性甲状腺功能减退为表现的假性低磷酸atp酶症1A型
Ragini Kondetimmanahalli,Jane Lynch,Gary Francis et al.
Ragini Kondetimmanahalli et al.
Summary: Short stature is a common complaint among pediatric visits and the differential diagnosis is extensive. Although some variations in growth are normal, deviation from normal growth is often the first symptom of ch...
Rare presentation of vitamin D toxicity with hypertriglyceridemia and pancreatitis [0.03%]
维生素D中毒伴高甘油三酯血症和胰腺炎的罕见表现
Bushra Rehman,Fozia Memon,Khadija Nuzhat Humayun et al.
Bushra Rehman et al.
Summary: Vitamin D is commonly recommended for daily intake as dietary sources are often insufficient. However, prolonged high-dose use can lead to serious complications. We present a rare case of a 2-month-old infant who...