Clinical and hematological analysis of testicular torsion in children.

Purpose: Analyze the clinical manifestations, laboratory tests, and imaging data of testicular torsion to provide clinical insights for timely and accurate diagnosis and treatment of testicular torsion.

Methods: A retrospective analysis was conducted on the clinical data of 67 pediatric patients suspected of testicular torsion, admitted and subjected to surgical exploration from June 2018 to June 2023. Based on whether the torsed testicle was excised during surgery, the patients were divided into orchiectomy group (40 cases) and orchidopexy group (27 cases).

Identification of a Novel Frameshift variant of the ATRX gene: a Case Report and Review of the genotype-phenotype relationship.

Background: X-linked intellectual disability-hypotonic facies syndrome-1 (MRXHF1) and Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome are caused by pathogenic variant in the ATRX gene, a member of the switch/sucrose non-fermentable (SWI-SNF) protein family that exhibits chromatin remodeling activity. These syndromes show a wide spectrum of clinical manifestations, such as distinctive dysmorphic features, mild-to-profound intellectual disability, motor development delay, seizures, urogenital abnormalities, and gastrointestinal disorders.

Case Presentation And Literature Review: A 3-year-old boy from a Chinese non-consanguineous family was diagnosed with MRXHF1 by whole-exome sequencing.

Impact of hot and cold nights on pneumonia hospitalisations in children under five years: Evidence from low-, middle-, and high-income countries.

Background: Studies have shown that abnormal temperature at night is a risk factor for respiratory health. However, there is limited evidence on the impact of hot and cold nights on cause-specific diseases such as pneumonia, which is a leading cause of morbidity and mortality in children.

Methods: We collected daily data on pneumonia hospitalisations in children under five years from 2011 to 2017 in three low-, middle- and high-income countries (Bangladesh, China, and Australia).

Developing a nomogram to predict recurrent intussusception after pneumatic reduction of primary intussusception in children.

Backgroud: Intussusception is a common acute abdominal disease in children, often leading to acute ileus in infants and young children.

Objective: This study aimed to develop and validate a nomogram for predicting recurrent intussusception in children within 48 h after pneumatic reduction of primary intussusception.

Methods: Clinical data of children with acute intussusception admitted to multiple hospitals from March 2019 to March 2021 were retrospectively analyzed.

Association of Maternal Short Sleep Duration With Neurodevelopmental Delay in Offspring: A Prospective Cohort Study.

Context: To investigate how short sleep duration (SSD) during pregnancy is related to neurodevelopmental delays in offspring, we aimed to inform pregnancy sleep guidelines and promote maternal health and child development.

Objective: To identify the associations between SSD during pregnancy and offspring neurodevelopmental delay and to determine whether fetal glucose metabolism plays a role in SSD and neurodevelopmental delays.

Methods: This cohort study followed 7059 mother-child pairs from the Maternal & Infants Health in Hefei cohort, and collected sleep data during pregnancy via the Pittsburgh Sleep Quality Index at weeks 24 to 28 and 32 to 36.

Secondary -Rearranged Renal Cell Carcinoma in a Chinese Girl Treated for Wilms Tumor: Case Report and Literature Review.

With the development of modern medicine and the application of multimodal treatment strategies, the survival rate after childhood malignant tumors as well as the incidence of Secondary malignant neoplasm (SMN) have increased. Patient is a Chinese girl. Initially diagnosed with Wilms tumor affecting her left kidney at the age of 6, she was later found to have -rearranged renal cell carcinoma (rRCC) affecting her right kidney at the age of 12.

Pediatric Angiosarcoma with Novel Phenotypic and Genotypic Profile in Chinese Children.

Angiosarcoma is an exceedingly rare entity in pediatric population. Herein, we report two pediatric angiosarcoma with novel phenotypic and genotypic profile. The two patients' information was summarized by clinical data, histopathology, immunohistochemistry, genetic, treatment, and prognosis.

Association of novel DNAH11 variants with asthenoteratozoospermia lead to male infertility.

Background: Bi-allelic variants in DNAH11 have been identified as causative factors in Primary Ciliary Dyskinesia, leading to abnormal respiratory cilia. Nonetheless, the specific impact of these variants on human sperm flagellar and their involvement in male infertility remain largely unknown.

Methods: A collaborative effort involving two Chinese reproductive centers conducted a study with 975 unrelated infertile men.

QSOX1 exerts anti-inflammatory effects in sepsis-induced acute lung injury: Regulation involving EGFR phosphorylation mediated M1 polarization of macrophages.

Sepsis is a systemic inflammatory response caused by an infection, which can easily lead to acute lung injury. Quiescin Q6 sulfhydryl oxidase 1 (QSOX1) is a sulfhydryl oxidase involved in oxidative stress and the inflammatory response. However, there are few reports on the role of QSOX1 in sepsis-induced acute lung injury (SALI).

Dual inhibitory potential of ganoderic acid A on GLUT1/3: computational and insights into targeting glucose metabolism in human lung cancer.

Human glucose transporters (GLUTs) facilitate the uptake of hexoses into cells. In cancer, the increased proliferation necessitates higher expression of GLUTs, with particular emphasis on GLUT1 and GLUT3. Thus, inhibiting GLUTs holds promise as an anticancer therapy by starving these cells of fuel.

A nationwide survey on the management of neonatal respiratory distress syndrome: insights from the MUNICH survey in 394 Chinese hospitals.

Background: At present, preterm infants with respiratory distress syndrome (RDS) in China present higher mortality and morbidity rates than those in high-income countries. The aim of this nationwide survey was to assess the clinical management of RDS in China.

Methods: A nationwide cross-sectional survey to assess adherence to RDS management recommendations was performed.

Transcriptional activation of PINK1 by MyoD1 mediates mitochondrial homeostasis to induce renal calcification in pediatric nephrolithiasis.

This study aims to uncover the molecular mechanisms underlying pediatric kidney stone formation induced by renal calcium deposition by utilizing high-throughput sequencing data to reveal the regulation of PINK1 by MyoD1. We performed transcriptome sequencing on peripheral blood samples from healthy children and children with kidney stones to obtain differentially expressed genes (DEGs). Genes related to mitochondrial oxidative stress were obtained from the Genecards website and intersected with DEGs to obtain candidate target genes.

Safety and efficacy of a novel dexmedetomidine nasal spray for pre-anesthetic sedation in children: a randomized, double-blind, placebo-controlled trial.

Background: Off-label intranasal administration of injectable dexmedetomidine has been widely applied in the pediatric sedation setting. However, the development of an improved drug delivery system that is easy to use is needed. We developed a novel dexmedetomidine nasal spray that can be administered directly without dilution or configuration for pediatric pre-anesthetic sedation.

Prenatal exposure to PM and its composition on child growth trajectories in the first two years: A prospective birth cohort study.

The findings on the relationship between prenatal exposure to particulate matter with aerodynamic diameter ≤2.5 μm (PM) and its constituent and children's growth trajectories are inconsistent. This association's sensitive exposure time window and possible gender differences remain unclear.

High-risk screening for late-onset Pompe disease in China: An expanded multicenter study.

Late-onset Pompe disease (LOPD) is caused by a genetic deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA), leading to progressive limb-girdle weakness and respiratory impairment. The insidious onset of non-specific early symptoms often prohibits timely diagnosis. This study aimed to validate the high-risk screening criteria for LOPD in the Chinese population.

Mechanism of KLF2 in young mice with pneumonia induced by Streptococcus pneumoniae.

Background: Streptococcus pneumoniae (Spn) is a major causative agent of pneumonia, which can disseminate to the bloodstream and brain. Pneumonia remains a leading cause of death among children aged 1-59 months worldwide. This study aims to investigate the role of Kruppel-like factor 2 (KLF2) in lung injury caused by Spn in young mice.