Dysfunction in social interactions is a core symptom of autism spectrum disorder (ASD). Nevertheless, the neural mechanisms underlying social deficits in ASD are poorly understood. By integrating electrophysiological, in vivo fiber photometry, viral-mediated tracing, optogenetic and pharmacological stimulation, we show reduced intrinsic excitability and hypoactivity of SOM interneurons in medial prefrontal cortex (mPFC) in Magel2-deficient mice, an established ASD model, were required to social defects.
View Article and Find Full Text PDFBackground: Avoidable mortality (AM) refers to deaths preventable through effective prevention measures or timely medical treatment, and reducing AM is crucial for improving child survival rates. We conducted an analysis of the situation and temporal trends of AM among under-five (U5) children in China.
Methods: Data were extracted from the China Death Surveillance Dataset.
Pullorum disease is a bacterial disease caused by in chickens, which is characterized by gastrointestinal infection and diarrhea. In traditional perspectives, research on pullorum disease primarily focused on clinical symptoms, epidemiological characteristics, and the pathogenic sites. This study, however, approaches the subject from the standpoint of host genetic basis and gut microbiota.
View Article and Find Full Text PDFSimultaneous targeting of multiple loci with the CRISPR system, a tool known as multiplex CRISPR, offers greater feasibility for manipulating and elucidating the intricate and redundant endogenous networks underlying complex cellular functions. Owing to the versatility of continuously emerging Cas nucleases and the use of CRISPR arrays, multiplex CRISPR has been implemented in numerous and studies. However, a streamlined, practical strategy for CRISPR array assembly that is both convenient and accurate is lacking.
View Article and Find Full Text PDFDimethyl phthalate (DMP) has been extensively utilized as a plasticizer on a global scale for many years. Its presence in the environment and its harmful effects on living organisms have raised concerns. This study aimed to examine its potential developmental neurotoxicity by utilizing zebrafish as a model.
View Article and Find Full Text PDFPurpose: The childhood hand, foot and mouth disease (HFMD) sequelae cohort study (HNHFMDCS) is an ambispective cohort study of patients with HFMD based in Henan Province, China, consisting of patients treated in a key hospital for the diagnosis and treatment of HFMD in Henan Province. The study aims to investigate the long-term sequelae of HFMD survivors and to provide a comprehensive understanding of the potential harm caused by this infectious disease.
Participants: In the retrospective phase of the cohort study, children diagnosed with HFMD from January 2014 to January 2023 were included, and clinical and demographic information about the patients was collected through a self-developed questionnaire.
Amino acid metabolism provides significant insight into the development and prevention of many viral diseases. Therefore, the present study aimed to compare the amino acid profiles of hand, foot, and mouth disease (HFMD) patients with those of healthy individuals and to further reveal the molecular mechanisms of HFMD severity. Using UPLC-MS/MS, we determined the plasma amino acid expression profiles of pediatric patients with HFMD (mild, = 42; severe, = 43) and healthy controls ( = 25).
View Article and Find Full Text PDFDiabetol Metab Syndr
November 2024
Background: The prevalence of metabolic syndrome is on the rise globally. Understanding the etiology and discovering potential treatment target have become a priority. Observational data have linked gut microbiota with metabolic syndrome and its comprising traits.
View Article and Find Full Text PDFIntroduction: Drug discovery research targeting SARS-CoV-2 and other emerging pathogens remains critically important. Active compounds derived from plants frequently serve as lead compounds for further drug discovery; however, numerous unrelated chemical constituents in crude extracts may obscure the effective ingredients in LC-MS analysis.
Objective: The aim of this study is to construct a biolayer interferometry (BLI)-based system for recognizing active ingredients that inhibit the main protease (Mpro) of SARS-CoV-2 and to identify the active chemical components binding to Mpro from herbal medicines.
Bisphenol A (BPA) is a widespread environmental endocrine disruptor (EED) that can cause various environmental and health issues by inducing oxidative stress. The c-Jun N-terminal kinase (JNK) signaling pathway plays a crucial role in oxidative stress-mediated cellular damage. Although folic acid (FA) has demonstrated antioxidant properties, its potential protective effects against BPA-induced developmental and neurotoxicity, as well as the mechanisms involved in the JNK signaling pathway, are still not completely understood.
View Article and Find Full Text PDFMol Ther Methods Clin Dev
December 2024
Pediatric monogenetic diseases encompass a spectrum of debilitating neurological disorders that affect infants and children, often resulting in profound cognitive and motor impairments. Gene replacement therapy holds immense promise in addressing the underlying genetic defects responsible for these conditions. Adeno-associated virus (AAV) vectors have emerged as a leading platform for delivering therapeutic genes due to their safety profile and ability to transduce various cell types, including neurons.
View Article and Find Full Text PDFUnited European Gastroenterol J
November 2024
Background: Methylated stool DNA (sDNA) is a reliable noninvasive biomarker for early colorectal cancer (CRC) diagnosis. However, there are barely any diagnostic panels that can achieve both a sensitivity and specificity exceeding 90% simultaneously.
Objective: We aimed to identify a novel methylated sDNA panel and model for the early diagnosis of CRC.
Neurodegenerative diseases pose a significant health burden globally, with limited treatment options available. Among the various cell types involved in the pathogenesis of these disorders, microglia, the resident immune cells of the central nervous system, play a pivotal role. Dysregulated microglial activation contributes to neuroinflammation and neuronal damage, making them an attractive target for therapeutic intervention.
View Article and Find Full Text PDFIn 2023, the U.S. Food and Drug Administration has approved 29 small molecule drugs.
View Article and Find Full Text PDFBackground: Neonatal hypoxic ischemic encephalopathy (HIE) leads to different degrees of neurological sequelae. The incidence of HIE is relatively high, and the causal pathways leading to HIE are still controversial. This study aimed to investigate the risk factors associated with HIE comparing differences between genders.
View Article and Find Full Text PDFMAGUK p55 subfamily member 7, a part of the membrane palmitoylated protein subfamily, is an essential adapter that promotes epithelial cell polarity and has increasing significance in multiple cancers, including esophageal cancer, clear cell renal cell carcinoma, breast cancer, and pancreatic ductal adenocarcinoma. This paper aims to determine the effect of the MAGUK p55 subfamily member 7 in various tumor types using The Cancer Genome Atlas and Genotype-Tissue Expression database. A variety of software and web platforms, such as cBioPortal, GEPIA2, TIMER2, UALCAN, R, STRING, and DAVID, were used to obtain and analyze data.
View Article and Find Full Text PDFZhonghua Yi Xue Yi Chuan Xue Za Zhi
September 2024
Objective: To clarify the genetic diagnosis of two children with ring chromosome 18 and explore their mechanisms and clinical phenotypes.
Methods: Two patients treated at the Children's Hospital of Henan Province respectively in June 2022 and March 2023 were selected as the study subjects. Genetic testing and diagnosis were carried out through copy number variation sequencing (CNV-seq), G-banded chromosomal karyotyping, and whole exome sequencing (WES).
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
September 2024
Objective: To analyze the clinical and genetic characteristics of a child featuring Dias-Logan syndrome.
Methods: A child with speech disorders and delayed psychomotor development from childhood who was admitted to the Rehabilitation Medicine Department of Children's Hospital Affiliated to Zhengzhou University in July 2022 was selected as the research subject. Clinical data of the child was collected.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
September 2024
Objective: To explore the clinical phenotype and genetic etiology for seven children with CHARGE syndrome (CS).
Methods: Clinical data of seven children with CS diagnosed between March 2020 and December 2022 at the Children's Hospital Affiliated to Zhengzhou University were analyzed. Genomic DNA was extracted from peripheral blood samples from the children and their parents, and subjected to whole exome sequencing.
In 2022, the U.S. Food and Drug Administration approved a total of 16 marketing applications for small molecule drugs, which not only provided dominant scaffolds but also introduced novel mechanisms of action and clinical indications.
View Article and Find Full Text PDFZhonghua Yi Xue Yi Chuan Xue Za Zhi
August 2024
Objective: To explore the clinical and genetic characteristics of three children with Leguis syndrome.
Methods: Three children suspected as Legius syndrome at the Henan Children's Hospital for precocious puberty or short stature from June 6, 2019 to August 25, 2022 were selected as the study subjects. Clinical data of the children were collected.