From genotype to phenotype: the impact of early management in pycnodysostosis [0.03%]
从基因型到表型：pycnodysostosis早期管理的影响
Paulo Rafael Gonçalves da Silva Von Zuben,Sophia Zuppo de Sousa,Carolina Costa Figueiredo et al.
Paulo Rafael Gonçalves da Silva Von Zuben et al.
Summary: Pycnodysostosis (PYCD) is an osteosclerotic skeletal dysplasia caused by mutations in the CTSK gene. We describe four cases, highlighting their clinical progression and therapeutic responses. Case 1 is a 2-year-o...
Effects of lanreotide autogel immediately after a single injection for thyrotropin-producing pituitary tumor [0.03%]
长效兰瑞肽治疗垂体促甲状腺激素型垂体瘤的疗效分析
Mayuko Sumitomo,Arina Miyoshi,Shuhei Baba et al.
Mayuko Sumitomo et al.
Summary: We present the case of a 51-year-old man who was referred to our hospital due to abnormal thyroid function tests. Laboratory evaluations showed elevated serum free (F) T3 and free (F) T4 levels (9.05 pg/mL and 4....
Development of Graves' disease in a patient with lymphocytic hypophysitis following glucocorticoid treatment [0.03%]
接受糖皮质激素治疗的淋巴细胞性垂体炎患者的Graves病发病病例报告
Yuka Ono,Norio Wada,Shuhei Baba et al.
Yuka Ono et al.
Summary: We report the case of a 41-year-old Japanese woman with visual field disturbances during late pregnancy. At 39 weeks of gestation, she was diagnosed with bitemporal hemianopsia at the ophthalmology department. An...
A hypoglycaemic 'Peter Pan': a paediatric disease in an adult patient? [0.03%]
低血糖的"彼得潘"综合征：儿科疾病在成人患者中的表现？
Shannon McCarthy,Mark Kotowicz
Shannon McCarthy
Summary: A 56-year-old male presented to hospital with vomiting and was admitted for management of suspected aspiration pneumonia. His medical history was significant for a diagnosis of cerebral palsy and intellectual dis...
Continuous glucose monitoring in a neonate with hyperinsulinemic hypoglycemia and ABCC8 gene mutation [0.03%]
ABCC8基因突变的新生儿高胰岛素血症的持续血糖监测
Patrycja Iwańczyk,Agata Majewska,Tadeusz Issat et al.
Patrycja Iwańczyk et al.
Summary: Neonatal hypoglycemia is a metabolic disorder affecting approximately 5-15% of newborns and is a risk factor for adverse neurological outcomes. The most common cause of hypoglycemia is hyperinsulinemic hypoglycem...
Double mutation for multiple endocrine neoplasia associated with congenital adrenal hyperplasia [0.03%]
与先天性肾上腺增生相关的MEN1和CYP17突变
Watrusy Lima de Oliveira,Eloilda Maria de Aguiar Silva,Carlos Eduardo de Melo Oliveira et al.
Watrusy Lima de Oliveira et al.
Summary: A 39 year old female with signs of hyperandrogenism, was diagnosed with congenital adrenal hyperplasia after a cortrosyn test. Abdominal tomography showed a nodular image in the right adrenal gland, measuring 1.9...
New-onset type 2 diabetes mellitus complicated by diabetic ketoacidosis: a sentinel presentation of advanced pancreatic adenocarcinoma [0.03%]
新发2型糖尿病合并糖尿病酮症酸中毒作为晚期胰腺导管腺癌的哨点表现
Akbar Rasekhi Kazerouni,Sahar Ghahramani,Younes Khayyer et al.
Akbar Rasekhi Kazerouni et al.
Summary: Diabetic ketoacidosis (DKA), typically linked to type 1 diabetes or acute illness in type 2 diabetes, can rarely be triggered by pancreatic adenocarcinoma (PA). Though 80% of PA patients have glucose intolerance,...
Variation in clinical presentation of hospitalized patients with diabetic foot ulcers who underwent lower leg amputation in the Bronx from 2016-2021 [0.03%]
2016年至2021年Bronx地区糖尿病足溃疡住院患者下肢截肢的临床特征差异
Ava Tsapatsaris,Denise A Levy,Alyson K Myers et al.
Ava Tsapatsaris et al.
Summary: Lower extremity amputation secondary to diabetic foot ulcers (DFU) is associated with a 50% mortality rate within 5 years. The aim of this case series is to understand the risk factors and management of DFU leadi...
Depot medroxyprogesterone acetate (DMPA)-associated early-onset osteoporotic fracture [0.03%]
长效注射避孕药导致的早期骨质疏松性骨折事件
Yotsapon Thewjitcharoen,Veekij Veerasomboonsin,Soontaree Nakasatien et al.
Yotsapon Thewjitcharoen et al.
Summary: Depot medroxyprogesterone acetate (DMPA) is a highly effective injectable contraceptive, but is associated with reduced bone mineral density (BMD) and increased fracture risk in some studies because it inhibits t...
Spindle epithelial tumor with thymus-like elements (SETTLE): a surgical case diagnosed preoperatively using fine-needle aspiration cytology [0.03%]
带有胸腺样成分的纺锤体上皮肿瘤(SETTLE)的术前细针穿刺细胞学诊断及一例手术治疗报告
Fumiaki Kawano,Teru Chiyotanda,Kazuhiko Nakame et al.
Fumiaki Kawano et al.
Summary: Spindle epithelial tumor with thymic-like elements (SETTLE) is an extremely rare tumor that occurs primarily in the thyroid gland. Histologically, SETTLE is characterized by the presence of spindle-shaped epithel...