The upper airway morphology in children varies with age and body position. This study aimed to analyze the impact of lateral positioning on the upper airway of sedated children under five. This retrospective study included pediatric patients who underwent MRI in both the supine and lateral positions at Children’s Hospital, Zhejiang University School of Medicine. Upper airway...
Mutations in the SLC2A1 gene cause glucose transporter type 1 deficiency syndrome (Glut1DS). This study aimed to investigate the clinical and molecular genetics characteristics of Chinese patients with Glut1DS. The clinical data of patients with Glut1DS were analyzed retrospectively. SLC2A1 mutation analysis was performed using Sanger sequencing or next-generation sequencing (NGS...
There is limited research on how adherence to 24 h movement guidelines from adolescence to adulthood affects long-term hypertension outcomes. This study examined the association between sustained adherence to these guidelines and hypertension risk. Analysis was done on data from adolescents 12- to 19-year-olds who took part in Waves I and V of the Add Health Study. Physical...
Treating pediatric acute myeloid leukemia (AML) with NUP98 rearrangement (NUP98-R) is challenging. Standard chemotherapy results in low remission rates. This study aimed to evaluate different induction regimens and explore alternative therapies to improve outcomes. This retrospective study included 111 pediatric patients with AML treated at our institution from March 2012 to...
The impact of Prader–Willi syndrome (PWS) domain gene expression on the growth of healthy children is not well understood. This study investigated associations between PWS domain gene expression in umbilical cord tissue and prenatal and postnatal growth, considering potential sex differences. Relative gene expression of paternally expressed MAGEL2, NDN, and SNURF-SNRPN, and the...
Some studies have revealed various sleep patterns in adolescents and adults using multidimensional objective sleep parameters. However, it remains unknown whether these patterns are consistent from adolescence to young adulthood and how they relate to long-term obesity. Seven-day accelerometry was conducted in German Infant Study on the influence of Nutrition Intervention PLUS...
Type 2 diabetes mellitus (T2DM) poses an escalating public health challenge among adolescents and young adults worldwide. Despite the rising incidence, comprehensive data on the burden and trends of T2DM in this demographic remain scarce. This study aims to evaluate the burden of T2DM among individuals aged 10–24 years globally, regionally, and nationally from 1990 to 2021...
Glucose transporter 1 deficiency syndrome (Glut1DS) was initially reported by De Vivo and colleagues in 1991. This disease arises from mutations in the SLC2A1 and presents with a broad clinical spectrum. It is a treatable neuro-metabolic condition, where prompt diagnosis and initiation of ketogenic dietary therapy can markedly enhance the prognosis. However, due to its rarity...
Decades of mainstream SIDS research based on the Triple Risk Model and neuropathological findings have failed to provide convincing evidence for a primary CNS-based mechanism behind putative secondary dyshomeostasis (respiratory or cardiac) or impaired arousal. Newly revealed data indicate that severe metabolic acidosis (and severe hyperkalemia) is a common accompaniment in SIDS...
Cancer predisposition syndromes are genetic disorders that significantly raise the risk of developing malignancies. Although the malignant manifestations of cancer predisposition syndromes are well-studied, recognizing their non-malignant features is crucial for early diagnosis, especially in children and adolescents. A comprehensive literature search was conducted using the...