Heterozygous Inversion on Chromosome 17 involving PAFAH1B1 Detected by Whole Genome Sequencing in a Patient Suffering from Pachygyria.

Lissencephaly (LIS) is a subtype of malformations of cortical development (MCD), characterized by smooth brain surfaces and underdeveloped gyri and sulci. This study investigates the genetic cause of pachygyria in a Chinese male infant diagnosed with the condition, who previously showed no causative variant through trio whole exome sequencing (Trio-WES) and copy number variation sequencing (CNVseq). Whole-genome sequencing (WGS) was conducted, revealing a novel heterozygous inversion spanning 1.

Effects of Life-Long Exercise on Age-Related Inflammation, Apoptosis, Oxidative Stress, Ferroptosis Markers, and NRF2/KAEP 1/Klotho Pathway in Rat Kidneys.

Xi-Kun Yuan Pin-Shi Ni Zhen-Hao Yan Zhi Yu Zhuang-Zhi Wang Chen-Kai Zhang Fang-Hui Li Xiao-Ming Yu 1Sports Department, Nanjing University of Science and Technology ZiJin College, Nanjing, China, 2School of Sport Sciences, Nanjing Normal University, Nanjing, China, 3Shanghai Seventh People's Hospital, Shanghai, China To investigate the effects of life-long exercise (LLE) on age-related inflammatory cytokines, apoptosis, oxidative stress, ferroptosis markers, and the NRF2/KAEP 1/Klotho pathway in rats. Eight-month-old female Sprague-Dawley rats were divided into four groups: 1) LLE: 18-month LLE training starting at 8 months of age, 2) Old moderate-intensity continuous training (OMICT): 8 months of moderate-intensity continuous training starting at 18 months of age, 3) Adult sedentary (ASED): 8 month-old adult sedentary control group, and 4) Old sedentary (OSED): a 26-month-old sedentary control group. Hematoxylin eosin staining was performed to observe the pathological changes of kidney tissue injury in rats; Masson's staining to observe the deposition of collagen fibers in rat kidney tissues; and western blotting to detect the expression levels of IL-6, IL 1beta, p53, p21, TNF-alpha, GPX4, KAEP 1, NRF2, SLC7A11, and other proteins in kidney tissues.

Identification and Validation of SLC9A2 as A Potential Tumor Suppressor in Colorectal Cancer: Integrating Bioinformatics Analysis with Experimental Confirmation.

Objective: To uncover the mechanisms underlying the development of colorectal cancer (CRC), we applied bioinformatic analyses to identify key genes and experimentally validated their possible roles in CRC onset and progression.

Methods: We performed Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis on differentially expressed genes (DEGs), constructed a protein-protein interaction (PPI) network to find the top 10 hub genes, and analyzed their expression in colon adenocarcinoma (COAD) and rectum adenocarcinoma (READ). We also studied the correlation between these genes and immune cell infiltration and prognosis and validated the expression of SLC9A2 in CRC tissues and cell lines using qRT-PCR and Western blotting.

Effectiveness and brain mechanism of multi-target transcranial alternating current stimulation (tACS) on motor learning in stroke patients: study protocol for a randomized controlled trial.

Background: Transcranial alternating current stimulation (tACS) has proven to be an effective treatment for improving cognition, a crucial factor in motor learning. However, current studies are predominantly focused on the motor cortex, and the potential brain mechanisms responsible for the therapeutic effects are still unclear. Given the interconnected nature of motor learning within the brain network, we have proposed a novel approach known as multi-target tACS.

Leucine-rich glioma-inactivated protein 1 antibody-associated encephalitis in a 22-month-old girl: a case report.

Background: LGI-1 antibody-associated encephalitis is a type of autoimmune encephalitis with a lower prevalence than NMDAR antibody-associated encephalitis. LGI-1 antibody-associated encephalitis is the second most prevalent of all autoimmune encephalitides. LGI-1 antibodies interfere with the interactions of inter-synaptic proteins to produce clinical manifestations (N Engl J Med 378:840-851, 2018).

Age-related changes in adipose tissue metabolomics and inflammation, cardiolipin metabolism, and ferroptosis markers in female aged rat model.

Aging adipose tissue exhibits elevated inflammation and oxidative stress that are major sources of age-related metabolic dysfunction. However, the exact metabolic changes associated with inflammation and oxidative stress are unclear. To address this topic, we assessed variation in metabolic phenotypes of adipose tissue from 18 months adult sedentary (ASED), 26 months old sedentary (OSED), and 8 months young sedentary (YSED).

Indirect regulation of HIPPO pathway by miRNA mediates high-intensity intermittent exercise to ameliorate aging skeletal muscle function.

Exercise-induced microRNA (miRNA) and HIPPO pathways participate in the regulation of skeletal muscle plasticity but their underlying mechanisms remain unclear. We aimed to investigate the effect of high-intensity interval training (HIIT) on miRNA expression and the HIPPO pathway in the skeletal muscle of aging rats to determine its role in the amelioration of muscle aging. Thirty-six 18-month-old female rats were randomly divided into sedentary control (SED, n = 12), moderate-intensity continuous training (MICT, n = 12), and HIIT (n = 12) groups, with continuous exercise for 8 months.

Integrative genomic analysis of early neurogenesis reveals a temporal genetic program for differentiation and specification of preplate and Cajal-Retzius neurons.

Neurogenesis in the developing neocortex begins with the generation of the preplate, which consists of early-born neurons including Cajal-Retzius (CR) cells and subplate neurons. Here, utilizing the Ebf2-EGFP transgenic mouse in which EGFP initially labels the preplate neurons then persists in CR cells, we reveal the dynamic transcriptome profiles of early neurogenesis and CR cell differentiation. Genome-wide RNA-seq and ChIP-seq analyses at multiple early neurogenic stages have revealed the temporal gene expression dynamics of early neurogenesis and distinct histone modification patterns in early differentiating neurons.

Effects of Body Weight Support-Tai Chi Footwork Training on Balance Control and Walking Function in Stroke Survivors with Hemiplegia: A Pilot Randomized Controlled Trial.

Background: Tai Chi (TC) is known to enhance balance control and walking function in stroke survivors. However, motor disorders in stroke patients may limit the implementation of TC exercise and increase the risk of falling. The body weight support (BWS) device can provide protection during the early rehabilitation of stroke survivors using an overhead suspension system.

Muscle Fatigue Enhance Beta Band EMG-EMG Coupling of Antagonistic Muscles in Patients With Post-stroke Spasticity.

There is a significant influence of muscle fatigue on the coupling of antagonistic muscles while patients with post-stroke spasticity are characterized by abnormal antagonistic muscle coactivation activities. This study was designed to verify whether the coupling of antagonistic muscles in patients with post-stroke spasticity is influenced by muscle fatigue. Ten patients with chronic hemipare and spasticity and 12 healthy adults were recruited to participate in this study.

Short-Step Adjustment and Proximal Compensatory Strategies Adopted by Stroke Survivors With Knee Extensor Spasticity for Obstacle Crossing.

Stroke survivors adopt cautious or compensatory strategies for safe and successful obstacle crossing. Although knee extensor spasticity is a common independent secondary sensorimotor disorder post-stroke, few studies have examined the step adjustment and compensatory strategies used by stroke survivors with knee extensor spasticity during obstacle crossing. This study aimed to compare the differences in the kinematics and kinetics during obstacle crossing between stroke survivors with and without knee extensor spasticity, and to identify knee extensor spasticity-related differences in step adjustment and compensatory strategies.

MiR-920 and LSP1 co-regulate the growth and migration of glioblastoma cells by modulation of JAK2/STAT5 pathway.

This study probes the function and mechanism of lymphocyte-specific protein 1 (LSP1) in glioblastoma pathogenesis. According to the data acquired from TCGA, Oncomine and GEO databases, the expression and prognostic value of LSP1 and miR-920 in glioblastoma patients were analyzed. The expression levels of LSP1 in U251 and A172 cell lines were analyzed by qRT-PCR and western blotting.

Body weight support-Tai Chi footwork for balance of stroke survivors with fear of falling: A pilot randomized controlled trial.

Background And Purpose: Balance impairment is the predominant risk factor for falls in stroke survivors. This study examined the effects of body weight support-Tai Chi (BWS-TC) footwork on balance control among stroke survivors with fear of falling (FOF).

Materials And Methods: Twenty-eight stroke survivors with FOF were randomly allocated to either control or BWS-TC groups.

Complete chloroplast genome of the wild-type (Celastraceae).

(Celastraceae), belonging to the monotypic genus, is an endangered species endemic to eastern China. The complete chloroplast (cp) genome sequence of . was determined using next-generation sequencing technology.

The complete mitochondrial genome of (Testudines: Trionychidae).

The complete mitochondrial genome sequence of was determined by shotgun sequencing. The total length of mitogenome is 16,593 bp, and contains 13 protein-coding genes, 22 tRNA genes, 2 ribosome RNA genes, and 1 control region. Most of the genes of .

Handgrip Strength as a Predictor of Nutritional Status in Chinese Elderly Inpatients at Hospital Admission.

Objective: To assess nutritional status and define gender- and age-specific handgrip strength (HGS) cut-point values for malnutrition or nutritional risk in elderly inpatients.

Methods: A cross-sectional study of 1,343 elderly inpatients was conducted in the Chinese PLA General Hospital. Nutrition Risk Screening (NRS 2002) and Subjective Global Assessment (SGA) were administered.

Polydatin protects the respiratory system from PM exposure.

Atmospheric particle is one of the risk factors for respiratory disease; however, their injury mechanisms are poorly understood, and prevention methods are highly desirable. We constructed artificial PM (aPM) particles according to the size and composition of actual PM collected in Beijing. Using these artificial particles, we created an inhalation-injury animal model.

[Small RNA interference-mediated ADP-ribosylation factor 6 silencing inhibits proliferation, migration and invasion of human prostate cancer PC-3 cells].

Objective: To investigate the effects of silencing ADP-ribosylation factor 6 (Arf6) on the proliferation, migration, and invasion of prostate cancer cell line PC-3 and the possible molecular mechanisms.

Methods: Three Arf6-specific small interfering RNA (siRNA) were transfected into cultured prostate cancer cell line PC-3. Arf6 expression was examined by real-time PCR and Western blotting.

[The absorption and metabolism of oxymatrine in rat intestine].

The purpose of this study is to systematically investigate the characteristics of absorption and metabolism of oxymatrine (OMT) using rat intestinal perfusion model. Ultra performance liquid chromatography (UPLC) and high performance liquid chromatography-electrospray ionization-quadrupole-time of flight mass spectrometry (HPLC-ESI(+)-Q-TOF-MS) were used to test absorption of OMT in intestine at 100, 200 and 400 µmol · L(-1). The absorption rate and permeability of OMT is not dependent on concentration, but through passive absorption in intestine (P > 0.

The Association of Maternal Body Composition and Dietary Intake with the Risk of Gestational Diabetes Mellitus during the Second Trimester in a Cohort of Chinese Pregnant Women.

Objective: To investigate the association of maternal body composition and dietary intake with the risk of gestational diabetes mellitus (GDM).

Methods: A total 154 GDM subjects and 981 controls were enrolled in a prospective cohort study in 11 hospitals from May 20, 2012 to December 31, 2013. Bioelectrical impedance analysis and dietary surveys were used to determine body composition and to evaluate the intake of nutrients in subjects at 21-24 weeks' gestation (WG).

MicroRNAs' Involvement in Osteoarthritis and the Prospects for Treatments.

Osteoarthritis (OA) is a chronic disease and its etiology is complex. With increasing OA incidence, more and more people are facing heavy financial and social burdens from the disease. Genetics-related aspects of OA pathogenesis are not well understood.

Reversal of Chemoresistance in Human Lung Cancer Cell Line A549/Taxol by Synthetic Second Mitochondria-Derived Activator of Caspase Peptide.

Background: Chemoresistance is a leading cause of treatment failure in advanced lung cancer, including that with the extensively prescribed taxol. Recently, a series of structurally unique second mitochondria-derived activators of caspase (Smac) that act as antagonists of inhibitor of apoptosis proteins (IAPs) have been discovered, exhibiting the ability of inducing enhanced apoptosis of various cancer cell types when combined with chemotherapy. In the present study, we synthesized the second mitochondria-derived activator of caspase peptide (Smac-N7 for short) and explored its capacity in combination with taxol in vitro.