A Comprehensive Child Psychiatry Approach for Managing Patients with Differences of Sexual Development in a Multidisciplinary Setting: An Alternative Follow-up Model [0.03%]
多学科环境下管理性发育差异患者的全面儿童精神病学方法：一种替代随访模型
N Burcu Özbaran,Hazal Yağmur Yılancıoğlu,İpek İnal Kaleli et al.
N Burcu Özbaran et al.
Objective: This study aims to examine the implementation of a new psychiatric follow-up model for patients with differences of sexual development (DSD), a group of conditions affecting gender determination and differentia...
The First-year Outcomes of the Nationwide Neonatal CAH Screening in Türkiye: High Rate of False Positives for 21-hydroxylase Deficiency and a Higher Detection Rate of Non-classical Cases [0.03%]
土耳其全国新生儿CAH筛查一年 outcomes：21-羟基酶缺乏假阳性率高和非经典病例检出率更高
Tulay Guran,Elif Yuruker,Ahmet Anik et al.
Tulay Guran et al.
Objective: Neonatal screening for congenital adrenal hyperplasia (CAH) was implemented nationwide in Türkiye in 2022. We assessed the performance of this screening program during its first year. ...
Body Composition Changes and Catch-up Growth in Pre-pubertal Children with Short Stature: A Longitudinal Retrospective Cross-sectional Cohort Study [0.03%]
矮身材学龄儿童体成分变化及追赶生长的队列研究
Dohyun Chun,Seo Jung Kim,Junghwan Suh et al.
Dohyun Chun et al.
Objective: Predicting whether children with pre-pubertal short stature will achieve catch-up growth to a normal height or remain short remains a clinical challenge. As body composition plays a vital role in growth, this s...
Association between Circulating Amino Acids and Childhood Obesity: A Systematic Review and Meta-Analysis [0.03%]
循环氨基酸与儿童肥胖的关系：系统评价和 meta 分析
Yingli Si,Tingting Zhang,Xiangyu Wang
Yingli Si
This systematic review and meta-analysis aim to synthesize the existing literature to clarify the role of amino acids as potential indicators or contributors to childhood obesity. The study follows the PRISMA 2020 guidelines. A comprehensiv...
Glucocorticoid Dose and Type are Associated with Depression Scores in Youth with Classical Congenital Adrenal Hyperplasia [0.03%]
糖皮质激素剂量及类型与经典型先天性肾上腺增生患儿抑郁评分相关性研究
Mark Chih Wei Liang,Nicole Fraga,Nare Minaeian et al.
Mark Chih Wei Liang et al.
Introduction: Adults with classical congenital adrenal hyperplasia (CAH) exhibit a higher lifetime prevalence of depression, but little is known about onset or etiology of mood disorders in this population. We therefore a...
Novel IGF1R Variants in Short Stature: Lessons from Two Patients and Outcome of Growth Hormone Therapy [0.03%]
短身材患者中发现新型IGF1R变异及其生长激素治疗效果研究
Mehmet Eltan,Hilal Sekizkardes,Sezin Canbek et al.
Mehmet Eltan et al.
The growth hormone (GH) - insulin-like growth factor 1 (IGF1) axis is essential for the regulation of growth. IGF1 exerts its effects through the IGF1 receptor (IGF1R) that plays a pivotal role in fetal and postnatal growth. Pathogenic mono...
Neurodevelopmental Disorders, Cognitive Functions, and Quality of Life in Children with Congenital Hypothyroidism in a Portuguese Population [0.03%]
葡萄牙人群先天性甲状腺功能减退症儿童的神经发育障碍、认知功能和生活质量
Laura Leite-Almeida,Rita Curval,Inês Pais-Cunha et al.
Laura Leite-Almeida et al.
Introduction: Although neonatal screening programs have reduced severe intellectual disability, children with congenital hypothyroidism (CH) are still at risk for neurodevelopmental deficits and a lower quality of life (Q...
Diagnostic Utility in Next-Generation Sequencing by Implicating CNV Analysis in Eleven Patients with Peters Plus Syndrome: A Single-Center Experience [0.03%]
高通量测序联合拷贝数变异分析用于Peters plus综合征诊断的临床应用价值：单中心11年回顾性研究
Akçahan Akalın,Enise Avcı Durmuşalioğlu,Şervan Özkalkak et al.
Akçahan Akalın et al.
Objective: Peters Plus syndrome (PTRPLS) is an autosomal recessive congenital disorder of glycosylation caused by biallelic pathogenic variants in the ß 1,3-glucosyltransferase gene (B3GLCT). To date, homozygous or compo...
What to Do for Atypia of Uncertain Significance in Pediatric Thyroid Nodules? [0.03%]
儿童甲状腺结节不确定意义的异常增生该如何处理？
Zulal Ozdemir Uslu,Nebiyye Genel,Elif Tugce Tunca Kucukali et al.
Zulal Ozdemir Uslu et al.
Objective: In the management of the pediatric thyroid nodules with atypia of undetermined significance (AUS) cytology, The American Thyroid Association (ATA) pediatric guidelines recommend surgery while The European Thyro...
Clinical and Molecular Landscape of Weiss-Kruszka Syndrome: A Case Report and Literature Review [0.03%]
Weiss-Kruszka综合征的临床及分子特征：病例报道及文献回顾
Lele Li,Chunxiu Gong
Lele Li
Weiss-Kruszka syndrome (WSKA; OMIM#618619) is a rare condition with multiple congenital anomalies. This study describes a patient with WSKA from Northern China. The patient was a 9-year-9-month-old boy presenting with growth retardation (gr...