Unraveling pathogenesis and potential biomarkers for autism spectrum disorder associated with HIF1A pathway based on machine learning and experiment validation.

Background: Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a high social burden and limited treatments. Hypoxic condition of the brain is considered an important pathological mechanism of ASD. HIF1A is a key participant in brain hypoxia, but its contribution to the pathophysiological landscape of ASD remains unclear.

Role of autophagy in resistance to ivermectin in Haemonchus contortus.

Haemonchus contortus is a highly pathogenic gastrointestinal nematode that parasitizes the abomasum of cattle, sheep, and other ruminants. Long-term use of large quantities of ivermectin (IVM) to control H. contortus has resulted in the development of drug resistance.

Ivermectin induces oxidative stress and mitochondrial damage in Haemonchus contortus.

Haemonchus contortus poses a severe threat to livestock, leading to substantial economic losses. The extensive use of ivermectin (IVM), an effective anthelmintic drug, has resulted in the development of resistant strains, reducing the drug's effectiveness and making disease management more challenging. Hence, understanding the underlying mechanisms of IVM resistance is crucial.

Epigenetic modification of IGF2/H19 imprinting control region regulates PGC-1α/PI3K/AKT2 pathway in a rat model of intrauterine growth restriction.

Background: Intrauterine growth restriction (IUGR) is associated with adverse metabolic outcomes during adulthood. Histone modifications and changes in DNA methylation-affected genes are important for fetal development. This study aimed to confirm the epigenetic mechanisms in IUGR.

The current status of primipara's childbirth experience and its correlation with their reproductive intention: a cross-sectional survey study.

Background: The childbirth experience of primipara profoundly impacts her future physical and mental health, reproductive intention, and choice of childbirth mode. This study aimed to explore the current situation of primipara's childbirth experience, to analyze the factors influencing negative childbirth experience, and to explore the relationship between childbirth experience and reproductive intention.

Methods: A cross-sectional survey of a convenience sample of 522 primipara 1-5 days postpartum was conducted at five hospitals in Guangdong Province (May to July 2024).

Identifying inversions with breakpoints in the Dystrophin gene through long-read sequencing: report of two cases.

Background: Duchenne Muscular Dystrophy (DMD) is an X-linked disorder caused by mutations in the DMD gene, with large deletions being the most common type of mutation. Inversions involving the DMD gene are a less frequent cause of the disorder, largely because they often evade detection by standard diagnostic methods such as multiplex ligation probe amplification (MLPA) and whole exome sequencing (WES).

Case Presentation: Our research identified two intrachromosomal inversions involving the dystrophin gene in two unrelated families through Long-read sequencing (LRS).

Increased serum carboxylesterase-1 levels are associated with metabolic dysfunction associated steatotic liver disease and metabolic syndrome in children with obesity.

Background: Carboxylesterase 1(CES1) is expressed mainly in the liver and adipose tissue and is highly hypothesized to play an essential role in metabolism. Our study aimed to investigate the association between CES1 and metabolic syndrome (MetS) and metabolic dysfunction associated steatotic liver disease (MASLD) in children with obesity in China.

Methods: This study included 72 children with obesity aged 6-13years (including 25(35%) diagnosed as MetS and 36(50%) diagnosed as MASLD).

The impact of impaired intrauterine growth on male fertility: A systematic review and meta-analysis.

Background: Adverse intrauterine environment was believed to have deleterious effects on the gonadal function. However, the association between impaired intrauterine growth and fertility in adult males has not been established.

Objectives: To compare the reproductive rates of males born small for gestational age (SGA), with low birth weight (LBW) or very low birth weight (VLBW) with control groups.

The increase in diabetes in children from underdeveloped countries.

Purpose Of Review: The incidence of type 1 diabetes (T1D) in children and adolescents has been increased over decades worldwide. Recent studies showed that the trend of T1D incidences were different between developed and underdeveloped countries. This review aimed to summarize the changes of childhood T1D incidences in underdeveloped countries over the past decade.

Early juvenile cataract in newly diagnosed type 1 diabetic patients: a description of two cases.

Objectives: To analyze and summarize the clinical characteristics and treatment of juvenile patients with type 1 diabetes mellitus (T1DM) complicated by early cataract.

Case Presentation: This retrospective study collected clinical data from 210 children and adolescents newly diagnosed with T1DM who were admitted to the Department of Pediatrics, Tongji Hospital (Wuhan) between 2015 and 2022. Among 210 patients with T1DM, early cataract developed within 3 months before diabetes onset and 12 months thereafter in 2 (0.

Inadequate linear catch-up growth in children born small for gestational age: Influencing factors and underlying mechanisms.

A minority of children born small for gestational age (SGA) may experience catch-up growth failure and remain short in adulthood. However, the underlying causes and mechanisms of this phenomenon are not yet fully comprehended. We reviewed the present state of research concerning the growth hormone-insulin-like growth factor axis and growth plate in SGA children who fail to achieve catch-up growth.

IL-6 Enhances the Activation of PI3K-AKT/mTOR-GSK-3β by Upregulating GRPR in Hippocampal Neurons of Autistic Mice.

Autism spectrum disorder (ASD) is a neurological disorder associated with brain inflammation. The underlying mechanisms could be attributed to the activation of PI3K signaling in the inflamed brain of ASD. Multiple studies highlight the role of GRPR in regulating ASD like abnormal behavior and enhancing the PI3K signaling.

FGD1-related Aarskog-Scott syndrome: Identification of four novel variations and a literature review of clinical and molecular aspects.

Patients with Aarskog-Scott syndrome (AAS) have short stature, facial anomalies, skeletal deformities, and genitourinary malformations. FYVE, RhoGEF, and PH domain-containing 1 (FGD1) is the only known causative gene of AAS. However, the diagnosis of AAS remains difficult, and specific treatments are still absent.

Identification and Analysis of ZIC-Related Genes in Cerebellum of Autism Spectrum Disorders.

Objective: Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with significant genetic heterogeneity. The ZIC gene family can regulate neurodevelopment, especially in the cerebellum, and has been implicated in ASD-like behaviors in mice. We performed bioinformatic analysis to identify the ZIC gene family in the ASD cerebellum.

The Effect of GnRHa Treatment on Body Mass Index in Central Precocious Puberty: A Systematic Review and Meta-Analysis.

Background: Recently, numerous studies have addressed the long-term effects of treatment with gonadotropin-releasing hormone analog (GnRHa) in patients with central precocious puberty (CPP). However, the effects of GnRHa treatment on body mass index (BMI) in patients with CPP remain controversial.

Objective: This systematic review and meta-analysis aimed to evaluate the association between GnRHa treatment and BMI in patients with CPP.

Characterization of newly diagnosed type 1 diabetes in children and adolescents from 2017 to 2022 in China: a single-center analysis.

Objective: This study investigated the characteristics of newly diagnosed type 1 diabetes mellitus (T1DM) related to autoimmunity and the frequency of diabetic ketoacidosis (DKA) in children and adolescents from 2017-2022 in China.

Research Design And Methods: Single-center regional data from the Department of Pediatric Endocrinology, Tongji Hospital, were used to compare 88 children and adolescents newly diagnosed with T1DM from 2020 to 2022 (i.e.

Development and validation of a three-dimensional deep learning-based system for assessing bowel preparation on colonoscopy video.

Background: The performance of existing image-based training models in evaluating bowel preparation on colonoscopy videos was relatively low, and only a few models used external data to prove their generalization. Therefore, this study attempted to develop a more precise and stable AI system for assessing bowel preparation of colonoscopy video.

Methods: We proposed a system named ViENDO to assess the bowel preparation quality, including two CNNs.