Diabetic Peripheral Neuropathy in Children and Adolescents - Prevalence, Diagnostic Methods and Risk Factors [0.03%]
儿童和青少年糖尿病外周神经病变的患病率、诊断方法及危险因素
Marta Baszyńska-Wilk,Monika Nowacka-Gotowiec,Elżbieta Moszczyńska
Marta Baszyńska-Wilk
Diabetic peripheral neuropathy (DPN) is the most common form of acquired neuropathy. In children with type 1 diabetes (T1D), the reported prevalence of DPN varies widely, ranging from 3% to 62%, mainly due to differences in screening method...
Two Countries, One Metabolic Dilemma: Nutritional Management of Concurrent Maple Syrup Urine Disease and Type 1 Diabetes Mellitus [0.03%]
两种国家，一种代谢难题：并发的枫糖浆尿病和1型糖尿病的营养管理
Pınar Kılıçdağı Çanakcı,Marta Suárez Gonzále,Engin Köse et al.
Pınar Kılıçdağı Çanakcı et al.
Maple Syrup Urine Disease (MSUD) and Type 1 Diabetes Mellitus (T1DM) are two distinct metabolic disorders with unique dietary management requirements. While MSUD necessitates strict restriction of branched-chain amino acids (BCAAs), T1DM re...
Development of Dysplastic Nevi in a Child with LEPR Deficiency Treated with Setmelanotide [0.03%]
LEPR缺陷儿童接受索马那肽治疗的发育不全痣的发展进展情况
Hatice Nursoy,Yasemin Denkboy Öngen,Ferdi Öztürk et al.
Hatice Nursoy et al.
Setmelanotide is a recently approved medication for patients over two years of age with monogenic obesity that emerges from POMC, LEPR, PCSK1 mutations, or Bardet-Biedl syndrome. While primarily targeting melanocortin-4 receptors (MC4R), se...
Gülümay Vural Topaktaş,Emrullah Arslan,Tayfun Çinleti et al.
Gülümay Vural Topaktaş et al.
Carney Complex (CNC) is a rare autosomal dominant syndrome characterized by skin pigmentation abnormalities, endocrine tumors, and cardiac myxomas. This report presents an 11-year-old girl with a history of pontine glioma treated with chemo...
Hereditary Hypophosphatemic Rickets with Hypercalciuria - Importance of Further Evaluation If Clinical Suspicion is Strong [0.03%]
低磷血症伴高钙尿症的软骨发育不良性佝偻病之遗传因素的重要性和临床怀疑
Chathupani Anuradha Wettasinghe,Ishara Minuri Kumarasiri,Mahendralingam Vidushajini et al.
Chathupani Anuradha Wettasinghe et al.
Hereditaryhypophosphatemic rickets with hypercalciuria ( HHRH) is a rare genetic condition with Autosomal recessive inheritance with a prevalence of 1 in 250000. It is due to mutation in SLC4A3 gene. Correct diagnosis of this condition is i...
Associations of Urinary Metabolites of Parabens and Bisphenol a with Premature Thelarche Among a Sample of Iranian Girls [0.03%]
对羟基苯甲酸酯和双酚A的尿代谢物与伊朗女孩乳房早发育的相关性分析
Nafiseh Mozafarian,Mahin Hashemipour,Mohammad Reza Maracy et al.
Nafiseh Mozafarian et al.
Objective: Endocrine-disrupting chemicals (EDC) may influence the process of puberty including the development of premature thelarche (PT). This study aimed to investigate the relation between exposure to bisphenol A (BPA...
Case Report: Hypoinsulinaemic Hypoketotic Hypoglycaemia Due to an Activating Variant in AKT2 [0.03%]
案例报告：AKT2基因激活突变所致胰岛素缺乏型低酮血症性低血糖病例报告
Laura Sayol-Torres,Ariadna Campos-Martorell,Julia Sala-Coromina et al.
Laura Sayol-Torres et al.
AKT2 is a serine/threonine kinase that plays a key role in regulating insulin signalling. The gain-of-function alteration in the AKT2 gene (c.49G>A, p.Glu17Lys) has been described in 9 patients with clinical findings consisting in severe pe...
Association of Obesity and Overweight with Early Puberty in Boys: A Meta Analysis [0.03%]
肥胖超重与男孩青春期提前的关联：一项系统综述和 meta 分析
Xiou Wang,Yi Song,Ziqin Liu
Xiou Wang
Objective: To evaluate the associations between obesity, overweight, and central obesity and the risk of early puberty in boys. Methods: ...
Long-Term Follow-up of a Case with TBX19 Mutation, a Rare Cause of Isolated ACTH Deficiency and Literature Review [0.03%]
TBX19突变罕见原因所致孤立性ACTH缺乏症一例的长期随访及文献复习
Aysegul Ceran,Zehra Aycan,Zeynep Siklar et al.
Aysegul Ceran et al.
TPIT is a transcription factor required for POMC gene expression and pituitary corticotroph cell differentiation and is encoded by TBX19. Variants in TBX19 cause early onset congenital isolated ACTH insufficiency with a mortality rate of up...
Myocardial Performance Index and Carotid Intima-Media Thickness in Children with Metabolically Healthy and Metabolically Unhealthy Obesity [0.03%]
代谢健康与代谢不健康的肥胖儿童的 myocardial performance index 和颈动脉内膜中层厚度的研究
Nazlican Civilibal Tang,Kazım Oztarhan,Helen Bornaun et al.
Nazlican Civilibal Tang et al.
Objective: This study aimed to compare the myocardial performance index (MPI) and carotid intima-media thickness (cIMT) of children who are metabolically healthy obese (MHO) and metabolically unhealthy obese (MUO) with ch...