A case of diffuse congenital hyperinsulinism in which continuous glucose monitoring contributed to the choice of a treatment strategy following a subtotal pancreatectomy [0.03%]
术前连续葡萄糖监测在先天性弥漫性胰岛素分泌过多综合征诊断及治疗中的应用
Hiroaki Zukeran,Kazuhisa Akiba,Shinji Higuchi et al.
Hiroaki Zukeran et al.
Patients with diffuse congenital hyperinsulinism (CHI) refractory to drug therapy require subtotal or near-total pancreatectomy. Although almost all patients develop diabetes postoperatively, the clinical course and timing of insulin therap...
A case of long-term survival of SADDAN treated with growth hormone for marked short stature [0.03%]
生长激素治疗明显矮小症SADDAN病例的长期生存报告
Junko Kanno,Yu Katata,Sayaka Kawashima et al.
Junko Kanno et al.
Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) is a bone dysplasia caused by a pathogenic variant of fibroblast growth factor receptor 3 (FGFR3). Pathogenic variants in FGFR3 also cause thanatophoric dyspla...
Peak expiratory flow, core performance and physical activity in normal-weight, overweight, and obese adolescents [0.03%]
正常体重、超重和肥胖青少年的峰值呼气流量、核心表现与身体活动的关系
Kübra Arslan,Buket Akinci,Hikmet Ucgun
Kübra Arslan
The objectives of this study were to (1) compare peak expiratory flow (PEF), physical activity (PA), and core performance among normal-weight, overweight, and obese adolescents and (2) explore the relationships between PEF, physical activit...
PTPN11 and FLNA variants in a boy with ambiguous genitalia, short stature, and non-specific dysmorphic features [0.03%]
PTPN11和FLNA变异导致的两性畸形、身材矮小及非特异性畸形表型综合征病例报告
Yuki Muranishi,Tomoyo Itonaga,Kenji Ihara et al.
Yuki Muranishi et al.
Noonan syndrome is a congenital disorder characterized by distinctive facial appearance, congenital heart defects, short stature, and skeletal dysplasia. Although boys with Noonan syndrome frequently exhibit cryptorchidism, a mild form of 4...
Clinical characteristics in children with maturity-onset diabetes of the young detected by urine glucose screening at schools in the Tokyo Metropolitan Area [0.03%]
东京地区学校尿糖筛查发现的儿童青年发病型糖尿病的临床特征
Tatsuhiko Urakami,Hiroki Terada,Yusuke Mine et al.
Tatsuhiko Urakami et al.
This study aimed to examine the clinical characteristics of young children diagnosed with maturity-onset diabetes (MODY) using urine glucose screening at schools. The study participants were 70 non-obese children who were clinically diagnos...
Traumatic brain injury inducing swift transition from syndrome of inappropriate antidiuretic hormone secretion to central diabetes insipidus: a case report [0.03%]
一例从不适当抗利尿激素分泌综合征迅速过渡至中枢性糖尿病 Insipidus 的创伤性脑损伤病例报告
Yuki Yasudome,Tomohiro Kubota,Ryo Kusubae et al.
Yuki Yasudome et al.
Heavy traumatic brain injury (TBI) may lead to the manifestation of either syndrome of inappropriate secretion of antidiuretic hormones (SIADH) or central diabetes insipidus (CDI). We present a case of TBI where SIADH transformed into CDI w...
Pseudohypoparathyroidism type 1B with involuntary movements: a case report and literature review [0.03%]
假性低甲状旁腺素血症1B型伴不自主运动的病例报告和文献回顾
Junko Naganuma,Hiroshi Suzumura,Satomi Koyama et al.
Junko Naganuma et al.
Pseudohypoparathyroidism (PHP) is a rare disorder characterized by convulsions, tetany, and sensory abnormalities caused by hypocalcemia due to parathyroid hormone (PTH) resistance. Only few patients present with involuntary movements. We r...
Potential indication of chemotherapy for hypodipsia and arginine vasopressin deficiency secondary to hypothalamic-pituitary Langerhans cell histiocytosis: a case report and literature review [0.03%]
兰伯特-奥兹玮斯病累及下丘脑-垂体导致低渗性脱水和抗利尿激素缺乏的化疗指征：1例报告和文献复习
Masashi Ota,Takeshi Sato,Satsuki Nakano et al.
Masashi Ota et al.
Hypothalamic-pituitary Langerhans cell histiocytosis (HP-LCH) is often associated with arginine vasopressin deficiency (AVD). Patients with AVD caused by HP-LCH rarely develop an impaired osmotic threshold for thirst (OTT). Improvement in O...
Fatality owing to pulmonary hemorrhage following pamidronate disodium administration in a neonate with osteogenesis imperfecta type 2: A case report [0.03%]
一例接受帕米膦酸钠治疗的第2型成骨不全新生儿肺出血死亡病例报告
Rintaro Nagoshi,Shoichiro Amari,Yu Abiko et al.
Rintaro Nagoshi et al.
We report the case of a patient with osteogenesis imperfecta (OI) who developed pulmonary hemorrhage 4 d after pamidronate disodium (PA) administration, despite a relatively stable respiratory status. Bisphosphonates are introduced to reduc...
Incidence of menstrual cycle abnormalities and polycystic ovary syndrome in female Japanese patients with type 1 diabetes mellitus. The role of androgens [0.03%]
日本1型糖尿病女性患者月经不调和多囊卵巢综合征的患病率及雄激素的作用
Tatsuya Nakamichi,Tomoyuki Kawamura,Satsuki Nishigaki et al.
Tatsuya Nakamichi et al.
Type 1 diabetes mellitus (T1DM) adversely affects gonadal function. This study aimed to define the characteristics and factors associated with menstrual cycle abnormalities and polycystic ovary syndrome (PCOS) in Japanese patients with T1DM...