Genotype, phenotype characteristics and long-term follow-up of patients with Vitamin D Dependent Rickets Type IA (VDDR1A): A nationwide multi-centre retrospective cross-sectional study [0.03%]
维生素D依赖性佝偻病IA型患者的基因表型特点及长期随访:一项全国多中心回顾性横断面研究
Atilla Cayir,Huseyin Demirbilek,Ayberk Türkyılmaz et al.
Atilla Cayir et al.
Introduction: Vitamin D Dependent Rickets Type IA (VDDR1A) is an autosomal recessive disorder characterized by defects in the biosynthesis of its active form 1,25-dihydroxyvitamin D due to mutations in the CYP27B1 gene wh...
Management of Arginine Vasopressin Deficiency (Central Diabetes Insipidus) in Neonates and Infants [0.03%]
新生儿和婴儿抗利尿激素缺乏症(中枢性尿崩症)的管理
Hannah Pearlstein,Allie Dayno,Jessica Zook et al.
Hannah Pearlstein et al.
Background: Arginine vasopressin deficiency (AVP-D), previously called central diabetes insipidus (central DI), is the inability to concentrate urine despite elevated serum osmolality (i.e., volume depletion) related to i...
IDEAL: A Comprehensive Virtual Training Program for Pediatric Diabetes Educators in Low-Resource Settings - Structure, Strengths, and Challenges [0.03%]
IDEAL:低资源环境下儿科糖尿病教育者的全面虚拟培训项目——结构、优势和挑战
Anju Virmani,Sirisha K Boddu,Preeti Singh et al.
Anju Virmani et al.
Introduction: Pediatric Diabetes Educators (PDEs) are scarce in low-resource settings (LRS), compromising diabetes care and increasing morbidity and mortality. ...
International consensus on the diagnosis and management of endocrine complications of β and α thalassemia in children and adolescents [0.03%]
儿童和青少年β-地中海贫血和α-地中海贫血的内分泌并发症诊断与治疗国际共识
Abdelhadi Habeb,Asma Deeb,Rasha T Hamza et al.
Abdelhadi Habeb et al.
β-thalassemia (βT) and α-thalassemia (αT) are chronic hemolytic anemias caused by hereditary defects in the β or α chains of hemoglobin respectively. According to the clinical picture, both forms of thalassemia are subdivided into min...
Practice Guideline
Hormone research in paediatrics. 2025 Jun 24:1-37. DOI:10.1159/000546904 2025
Clinical Variability in Congenital Adrenal Hyperplasia: A Distinct Subgroup with A Low Glucocorticoid Dose Requirement [0.03%]
先天性肾上腺增生的临床变异性:低糖皮质激素剂量需求亚组的特点
Ala Ustyol,Erica A Eugster
Ala Ustyol
Objectives: Some children with classic congenital adrenal hyperplasia (CAH) achieve excellent control on very low glucocorticoid doses. We aimed to characterize these patients and assess the timing of their low-dose requi...
Little Loopers - a case series of automated insulin delivery usage with standard and diluted insulin in very young children with diabetes mellitus [0.03%]
小小循环者——标准胰岛素和稀释胰岛素在非常年幼的糖尿病患儿中用于自动化胰岛素输送的病例系列研究
Benjamin G Fisher,Julia Ware,Paul Geetha Paul Nicholsion et al.
Benjamin G Fisher et al.
Introduction: Management of diabetes mellitus in very young children presents challenges due to variable insulin sensitivity, unpredictable carbohydrate intake, and low insulin requirements. An automated insulin delivery ...
ADECA: A novel course for training Paediatric Diabetes Nurse Educators in Sub-Saharan Africa [0.03%]
ADECA:一种在东非培训儿童糖尿病护士教育者的新型课程
Juliana Chizo Agwu,Kandi Catherine Muze,Joyce Mbogo et al.
Juliana Chizo Agwu et al.
Background: Care of children with diabetes is best delivered by a specialist multidisciplinary team of paediatric endocrinologists, diabetes nurse educators, dietitians and psychologists. The Allied Healthcare Paediatric ...
The Utility of Copeptin Measurement in Hospitalized Pediatric Patients with SIADH [0.03%]
库普亭测定在住院的SIADH儿科患者中的应用价值
Julianne Gibbons,Daina Dreimane
Julianne Gibbons
Introduction: Hyponatremia is common in hospitalized pediatric patients and in many cases the diagnosis of the Syndrome of Inappropriate Antidiuretic Secretion (SIADH) remains challenging, with no gold standard for diagno...
Acute kidney injury at the onset of type 1 diabetes mellitus: a balance between kidney stress and nephron mass [0.03%]
1型糖尿病发病时的急性肾损伤:肾脏应激和肾小球数量之间的平衡
Paola Tirelli,Stefano Guarino,Mariantonia Braile et al.
Paola Tirelli et al.
IIntroduction: Uromodulin reflects nephron mass, while urinary neutrophil gelatinase-associated lipocalin (NGAL) indicates kidney injury. We hypothesized that low urinary uromodulin at type 1 diabetes mellitus (T1DM) onset may be linked to ...
Polygenic Childhood Obesity: Integrating Genetics and Environment for Early Intervention [0.03%]
多基因儿童肥胖症:遗传与环境的整合以实现早期干预
Jorrit van Uhm,Elisabeth F C van Rossum,Mieke M van Haelst et al.
Jorrit van Uhm et al.
Background: Childhood obesity is a global health challenge driven by a complex interplay of genetic predispositions and environmental exposures. Genome-wide association studies (GWAS) have identified many obesity-associat...