The association of gene polymorphisms in SREBP and its interaction with nutritional status on blood pressure phenotypes among children: a cross-sectional study.

Introduction: Previous studies have confirmed that the SREBP polymorphisms are associated with dyslipidemia. However, no researchers investigated the association between SREBP polymorphisms and blood pressure phenotypes in children.

Methods: A convenient cluster sampling method was adopted to conduct field survey in three middle schools.

[Analysis of a Chinese pedigree affected with X-linked cardiac valve dysplasia (CVDPX) and congenital chronic pseudo intestinal obstruction (CIIPX) due to a c.443A>G variant of FLNA gene].

Objective: To explore the genetic etiology for a Chinese pedigree affected with X-linked cardiac valve dysplasia (CVDPX) and congenital chronic pseudo intestinal obstruction (CIIPX).

Methods: A pedigree presented at the First Hospital of Lanzhou University for CVDPX combined with CIIX was selected as the study subject. Whole exome sequencing (Trio-WES) was carried out, and the candidate variant was verified by Sanger sequencing.

Incidental finding of a exons 48-55 deletion during prenatal diagnosis.

Background: genetic variants cause a spectrum of phenotypes, from severe progressive proximal muscle weakness and degeneration leading to wheelchair dependence and death from cardiac and/or respiratory failure to very mild muscular phenotypes; very rarely, cases are completely asymptomatic. Few cases have been reported in males carrying deletions who are asymptomatic.

Methods: Family clinical information was collected from the patients.

Artificial oocyte activation technology as adjuvant therapy for primary ciliary dyskinesia: a report of eight cases and literature review.

Objective: To explore the clinical application effect and feasibility of intracytoplasmic sperm injection (ICSI) combined with artificial oocyte activation (AOA) technology in the treatment of male infertility caused by primary ciliary dyskinesia (PCD).

Cases Report: Between April 2022 and April 2024, our hospital's reproductive center treated a total of eight patients diagnosed with PCD and concurrent male infertility. Among them, six patients were treated with ICSI in conjunction with AOA as an adjuvant therapy, with their oocytes being subjected to ionomycin treatment for a duration of 15 min post-ICSI.

The Regulation of ZAR1 on Apoptosis and Mitophagy in Ovarian Granular Cells and Primary Ovarian Insufficiency (POI) Mice.

Primary ovarian insufficiency (POI) has become a serious problem causing infertility and endocrine disorders in women of child-bearing age. There is an urgent demand for novel drugs or targets to address the apoptosis, autophagy and mitochondria damage associated with ovarian aging. This study focused on the regulation of zygote arrest 1 (ZAR1) in ovarian function and its potential role in POI.

Machine learning-based prediction reveals kinase MAP4K4 regulates neutrophil differentiation through phosphorylating apoptosis-related proteins.

Neutrophils, an essential innate immune cell type with a short lifespan, rely on continuous replenishment from bone marrow (BM) precursors. Although it is established that neutrophils are derived from the granulocyte-macrophage progenitor (GMP), the molecular regulators involved in the differentiation process remain poorly understood. Here we developed a random forest-based machine-learning pipeline, NeuRGI (Neutrophil Regulatory Gene Identifier), which utilized Positive-Unlabeled Learning (PU-learning) and neural network-based in silico gene knockout to identify neutrophil regulators.

A familial study of a de novo FGG gene mutation causing congenital hypofibrinogenaemia and intervention during pregnancy and childbirth.

To investigate the family line of a pregnant woman with congenital hypofibrinogenaemia due to a de novo mutation in the fibrinogen gamma (FGG) gene and experimentally explore its molecular pathological mechanisms. Peripheral blood specimens were collected from the proband and her family members for coagulation tests to assess their coagulation function. Whole exome sequencing was used to determine the gene mutation in the family lineage.

Drosophila AK-3, a homolog of human CKMT1B, is essential for spermiogenesis.

In Brief: The assembly and maintenance of axonemal microtubules during spermatogenesis is essential for production of functional sperm. This study shows that arginine kinase 3 (AK-3) (human ortholog CKMT1B) is necessary for Drosophila spermiogenesis and its biological function is conserved from flies to humans.

Abstract: Spermatogenesis is a conserved process across animals, involving the proliferation and maintenance of germ stem cells, haploid spermatid production via meiosis and the generation of mature sperm with unique shapes.

Unexpected species diversity in the understanding of selenium-containing soil invertebrates.

Yutangba, situated in Enshi City, Hubei Province, is globally noted for its high selenium (Se) content. Soil invertebrates are essential to the functionality and services of terrestrial ecosystems, yet their community composition in this region remains under-explored. This study utilized environmental DNA metabarcoding to investigate the interrelations among environmental factors, soil invertebrate diversity, and community characteristics concerning soil Se content, pH, and moisture content in the region.

Congenital muscular dystrophies and myopathies: the leading cause of genetic muscular disorders in eleven Chinese families.

Background: Congenital muscular dystrophies (CMDs) and myopathies (CMYOs) are a clinically and genetically heterogeneous group of neuromuscular disorders that share common features, such as muscle weakness, hypotonia, characteristic changes on muscle biopsy and motor retardation. In this study, we recruited eleven families with early-onset neuromuscular disorders in China, aimed to clarify the underlying genetic etiology.

Methods: Essential clinical tests, such as biomedical examination, electromyography and muscle biopsy, were applied to evaluate patient phenotypes.

A potential role for the interaction of Wolbachia surface proteins with the Drosophila microtubulin in maintenance of endosymbiosis and affecting spermiogenesis.

Wolbachia, as a widely infected intracellular symbiotic bacterium in Arthropoda, is able to manipulate the reproduction of insect hosts for facilitating their own transmission. Cytoplasmic incompatibility (CI) is the most common phenotype that Wolbachia induced in insect hosts where they resulted in the failure of uninfected egg hatch when fertilized with the sperm derived from Wolbachia-infected males, suggesting that the sperm are modified by Wolbachia during spermatogenesis. Although the molecular mechanisms of CI are beginning to be understood, the effects of Wolbachia on the symbiotic relationship and the proper dynamics of spermatogenesis have not yet been fully investigated.

Genome-wide phylogenetic analysis and expansion of gene families involved in detoxification in Smittia aterrima (Meigen)and Smittia pratorum (Goetghebuer) (Diptera, Chironomidae).

Smittia aterrima (Meigen, 1818) and Smittia pratorum (Goetghebuer, 1927) are important indicator insects for aquatic environments, showing extensive tolerance to the environment. However, the genome-wide phylogenetic relationships and characteristics of the detoxification mechanisms in S. aterrima and S.

Unexpectedly complex distribution pattern of chestnut pest Niphades castanea Chao (Coleoptera: Curculionidae) based on mtDNA and ITS markers.

Niphades castanea Chao (Coleoptera: Curculionidae), an important fruit insect pest of chestnuts (Castanea spp.), could cause chestnut involucre abscission ahead of time through larvae boring and feeding basal involucres, eventually causing huge economic losses. In this research, mitochondrial (COI and COII) and nuclear (ITS1) markers were used to investigate genetic variation among 15 different geographical populations of chestnut pest N castanea.

Association of body composition with ambulatory blood pressure among Chinese youths.

Background: For youths, abnormalities in ambulatory blood pressure (ABP) patterns are known to be associated with increased cardiovascular disease risk and potential target organ damage. Body composition, including indicators such as lean mass index (LMI), fat mass index (FMI), and visceral fat level (VFL), plays a significant role in blood pressure (BP) regulation. However, little is known about the association between these body composition indicators and ABP.

The research hotspots and theme trends of artificial intelligence in nurse education: A bibliometric analysis from 1994 to 2023.

Objectives: To explore research hotspots and theme trends in artificial intelligence in nurse education using bibliometric analysis.

Design: Bibliometric analysis.

Data Sources: Literature from the Web of Science Core Collection from the time of construction to October 31, 2023 was searched.

Exposure to light at night (LAN) and risk of overweight/obesity, hypertension, and diabetes: a systematic review and meta-analysis.

Current studies have presented conflicting findings regarding the associations between light at night (LAN) exposure and the risk of overweight/obesity, hypertension, and diabetes. Our study systematically summarized the evidence of the association between LAN exposure and the risk of overweight/obesity, hypertension, and diabetes. We searched five databases (PubMed, Web of Science, Embase, Scopus, and Cochrane) for observational studies published up to 1 August 2023.

Chiral phosphoric acid-catalyzed asymmetric epoxidation of alkenyl aza-heteroarenes using hydrogen peroxide.

The synthesis of chiral α-azaheteroaryl oxiranes via enantioselective catalysis is a formidable challenge due to the required complex stereoselectivity and diverse N-heterocyclic structures. These compounds play a crucial role in developing bioactive molecules, where precise chirality significantly influences biological activity. Here we show that using chiral phosphoric acid as a catalyst, our method efficiently addresses these challenges.

Large-Scale Cortical Network Analysis and Classification of MI-BCI Tasks Based on Bayesian Nonnegative Matrix Factorization.

Motor imagery (MI) is a high-level cognitive process that has been widely applied to clinical rehabilitation and brain-computer interfaces (BCIs). However, the decoding of MI tasks still faces challenges, and the neural mechanisms underlying its application are unclear, which seriously hinders the development of MI-based clinical applications and BCIs. Here, we combined EEG source reconstruction and Bayesian nonnegative matrix factorization (NMF) methods to construct large-scale cortical networks of left-hand and right-hand MI tasks.

Association of a Healthy Lifestyle With Ambulatory 24-Hour Blood Pressure Among Chinese Youths: A Cross-Sectional Study.

Background: This study aims to explore the association between a healthy lifestyle and abnormal ambulatory blood pressure (ABP) in Chinese youths.

Methods: A school-based sample of 1,296 college students was investigated. A lifestyle score was calculated by synthesizing 5 lifestyle factors, including smoking, alcohol consumption, diet, physical activity, and sleeping.

Identification and functional characterization of a novel heterozygous splice‑site mutation in the calpain 3 gene causes rare autosomal dominant limb‑girdle muscular dystrophy.

Limb-girdle muscular dystrophies are a group of extremely heterogenous neuromuscular disorders that manifest with gradual and progressive weakness of both proximal and distal muscles. Autosomal dominant limb-girdle muscular dystrophy (LGMDD4) or calpainopathy is a very rare form of myopathy characterized by weakness and atrophy of both proximal and distal muscles with a variable age of onset. LGMDD4 is caused by germline heterozygous mutations of the calpain 3 ( gene.

Two chromosome-level genomes of Smittia aterrima and Smittia pratorum (Diptera, Chironomidae).

Chironomids are one of the most abundant aquatic insects and are widely distributed in various biological communities. However, the lack of high-quality genomes has hindered our ability to study the evolution and ecology of this group. Here, we used Nanopore long reads and Hi-C data to produce two chromosome-level genomes from mixed genomic data.

Associations of chronotype with anxiety, depression and insomnia among general adult population: A cross-sectional study in Hubei, China.

Background: The relationship between chronotype and anxiety, depression, and insomnia was inconsistent. We aimed to assess the association between chronotype and mental health and the potential moderating effect of age and socioeconomic status (SES).

Methods: A multi-stage sampling cross-sectional study with 12,544 adults was conducted.

Co-release of cytokines after drug-eluting stent implantation in acute myocardial infarction patients with PCI.

Acute Myocardial Infarction (AMI) after Percutaneous Coronary Intervention (PCI) often requires stent implantation leading to cardiovascular injury and cytokine release. Stent implantation induces cytokines production including TNFα, Hs-CRP, IL-1ß, IL2 receptor, IL6, IL8, and IL10, but their co-release is not extensively established. In 311 PCI patients with Drug-Eluting Stent (DES) implantation, we statistically evaluate the correlation of these cytokines release in various clinical conditions, stent numbers, and medications.