[Clinical hearing phenotypes analysis of gene p.V37I homozygote and compound heterozygote mutation in infants].

To analyze the hearing phenotypes of p. V37I homozygote and compound heterozygote mutation in gene, and to provide basis for genetic counseling. Fifty-three subjects with p.

NIPSNAP3A regulates cellular homeostasis by modulating mitochondrial dynamics.

Mitochondria are essential for cell metabolism and survival as they produce the majority of cellular ATP through oxidative phosphorylation as well as regulate critical processes such as cell proliferation and apoptosis. NIPSNAP family of proteins are predominantly mitochondrial matrix proteins. However, the molecular and cellular functions of the NIPSNAPs, particularly NIPSNAP3A, have remained elusive.

Vagus nerve stimulation (VNS) inhibits cardiac mast cells activation and improves myocardial atrophy after ischemic stroke.

Background: Ischemic stroke is one of the leading causes of chronic disability worldwide, and stroke-induced heart damage can lead to death. According to research, patients with a variety of brain disease have good clinical results after vagus nerve stimulation (VNS). After ischemic stroke, mast cells (MCs) degranulate and release a large number of mediators, which may cause systemic inflammation.

The role of the CXCR6/CXCL16 axis in the pathogenesis of fibrotic disease.

CXC chemokine receptor 6 (CXCR6), a seven-transmembrane domain G-protein-coupled receptor, plays a pivotal regulatory role in inflammation and tissue damage through its interaction with CXC chemokine ligand 16 (CXCL16). This axis is implicated in the pathogenesis of various fibrotic diseases and correlates with clinical parameters that indicate disease severity, activity, and prognosis in organ fibrosis, including afflictions of the liver, kidney, lung, cardiovascular system, skin, and intestines. Soluble CXCL16 (sCXCL16) serves as a chemokine, facilitating the migration and recruitment of CXCR6-expressing cells, while membrane-bound CXCL16 (mCXCL16) functions as a transmembrane protein with adhesion properties, facilitating intercellular interactions by binding to CXCR6.

[Mutation spectrum analysis of 23-site chip neonatal deafness genetic screening].

To analyze the mutation spectrum of 23-site chip newborn deafness genetic screening in Beijing, and to provide basis for genetic counseling and clinical diagnosis and treatment. The study included 21 006 babies born in Beijing from December 2022 to June 2023. All subjects underwent newborn deafness genetic screening in Beijing Tongren Hospital, covering 23 variants in 4 genes, the gene（c.

Imbalance of gut microbiota in gestational diabetes.

Aim: To investigate the differences in gut microbiota composition among nonpregnant women of reproductive age, healthy pregnant women, and gestational diabetes (GD) patients.

Methods: A total of 45 outpatients were enrolled and divided into three groups: nonpregnant women of reproductive age (control group, n = 23), healthy pregnant women (normal group, n = 10), and GD patients (GD group, n = 12). Faecal samples were collected and sequenced using 16S rRNA gene sequencing to analyse the microbial composition.

NOD1 deficiency ameliorates the progression of diabetic retinopathy by modulating bone marrow-retina crosstalk.

Background: Nucleotide-binding oligomerization domain-containing protein 1 (NOD1) plays a pivotal role in inducing metabolic inflammation in diabetes. Additionally, the NOD1 ligand disrupts the equilibrium of bone marrow-derived hematopoietic stem/progenitor cells, a process that has immense significance in the development of diabetic retinopathy (DR). We hypothesized that NOD1 depletion impedes the advancement of DR by resolving bone marrow dysfunction.

Chronic stress hinders sensory axon regeneration via impairing mitochondrial cristae and OXPHOS.

Spinal cord injury (SCI) often leads to physical limitations, persistent pain, and major lifestyle shifts, enhancing the likelihood of prolonged psychological stress and associated disorders such as anxiety and depression. The mechanisms linking stress with regeneration remain elusive, despite understanding the detrimental impact of chronic stress on SCI recovery. In this study, we investigated the effect of chronic stress on primary sensory axon regeneration using a preconditioning lesions mouse model.

Transformation of colitis and colorectal cancer: a tale of gut microbiota.

Intestinal inflammation modifies host physiology to promote the occurrence of colorectal cancer (CRC), as seen in colitis-associated CRC. Gut microbiota is crucial in cancer progression, primarily by inducing intestinal chronic inflammatory microenvironment, leading to DNA damage, chromosomal mutation, and alterations in specific metabolite production. Therefore, there is an increasing interest in microbiota-based prevention and treatment strategies, such as probiotics, prebiotics, microbiota-derived metabolites, and fecal microbiota transplantation.

High-normal free thyroxine level is related with decreased bone mineral density in nonobese male patients with type 2 diabetes over 50 years old.

Background: The prevalence of 'low bone mineral density (BMD)' in Type 2 diabetes (T2DM), especially stratified by body mass index, is seldom reported. The relation of the euthyroid range and low BMD in T2DM remains to be further elucidated.

Objectives: We aim to investigate the thyroid hormones' impact on BMD among euthyroid patients with T2DM.

Optimized concurrent hearing and genetic screening in Beijing, China: A cross-sectional study.

Concurrent screening has been proven to provide a comprehensive approach for management of congenital deafness and prevention of ototoxicity. The SLC26A4 gene is associated with late-onset hearing loss and is of great clinical concern. For much earlier detection of newborns with deafness-causing mutations in the SLC26A4 gene, the Beijing Municipal Government launched a chip for optimized genetic screening of 15 variants of 4 genes causing deafness based on a chip to screen for 9 variants of 4 genes, and 6 variants of the SLC26A4 gene have now been added.

Crohn's Disease Complicated by Rare Types of Intestinal Obstruction: Two Case Reports.

Intestinal obstruction is one of the most common complications of Crohn's disease (CD), jeopardizing the quality of life of patients. Numerous factors may contribute to intestinal obstruction in CD. Thus far, the primary reason has been identified as intestinal fibrosis caused by repeated chronic inflammation during the active phase of CD.

CHCHD2 and CHCHD10 regulate mitochondrial dynamics and integrated stress response.

Mitochondrial dysfunction is becoming one of the main pathology factors involved in the etiology of neurological disorders. Recently, mutations of the coiled-coil-helix-coiled-coil-helix domain containing 2 (CHCHD2) and 10 (CHCHD10) which encode two homologous proteins that belong to the mitochondrial CHCH domain protein family, are linked to Parkinson's disease and amyotrophic lateral sclerosis (ALS)/frontotemporal dementia (FTD), respectively. However, the physiological and pathological roles of these twin proteins have not been well elaborated.

Relative Adrenocortical Insufficiency Following Radioactive Iodine Therapy for Graves' Disease: A Report of Two Cases.

Introduction: In recent years, radioactive iodine (RAI) therapy has become a main choice for Graves' disease. The rapid release of thyroid hormones following RAI may on occasion trigger severe events, such as thyroid storm or heart block. This study presents two cases of possible acute adrenocortical insufficiency precipitated by radioiodine therapy.

Ginkgolic Acids Impair Mitochondrial Function by Decreasing Mitochondrial Biogenesis and Promoting FUNDC1-Dependent Mitophagy.

Ginkgolic acids (GAs) are found in the leaves, nuts, and testa of and have been reported to exhibit antitumor, antibacterial, and pro-apoptotic activities. However, their role in mitochondrial function is still unclear. Our previous study showed that genes related to the mitochondria present significant changes in GA-treated mouse bone marrow stromal cells.

Cross-talk between T2 and T17 pathways in patients with chronic rhinosinusitis with nasal polyps.

Background: Chronic rhinosinusitis with nasal polyps (CRSwNP) is a heterogeneous disease with a spectrum of endotypes. T2- and T17-related cytokines are 2 central regulators involved in the inflammation associated with CRSwNP.

Objective: We sought to investigate the interregulation of T2 and T17 pathways in Chinese patients with CRSwNP.

Incidence trends and risk prediction nomogram of metachronous second primary lung cancer in lung cancer survivors.

Background: This study was designed to estimate the trends in 5-year incidence of metachronous second primary lung cancer(SPLC) and to establish a risk prediction model to identify candidates who were at high risk of developing metachronous SPLC.

Methods: Incidence data between 2004 and 2007 were obtained from SEER database, including 42453 participants who survived ≥ 2 years after the initial diagnosis of lung cancer. Joinpoint regression analysis was used to calculate the 5-year incidence rates of metachronous SPLC per 100 000 population.

Genotyping and audiological characteristics of infants with a single-allele SLC26A4 mutation.

Objectives: To identify second-allele variant in infants with a known single-allele mutation of the SLC26A4 gene and to determine the frequency of their occurrence; and to investigate the clinical audiological characteristics of infants with bi-allelic mutations in SLC26A4.

Methods: The study subjects were 371 patients with a single-allele SLC26A4 mutation detected by neonatal deafness gene screening (4 genes and 9 pathogenic variants) who were treated at the otology outpatient department of Beijing Tongren Hospital. The exonic and flanking splice site regions of the SLC26A4 gene were sequenced for all patients.

Analysis of p.V37I compound heterozygous mutations in the GJB2 gene in Chinese infants and young children.

The p.V37I (c.109G>A) mutation in the GJB2 gene is the common frequent cause of congenital deafness; however, its pathogenicity is debated.

[Association between single-nucleotide polymorphisms of key genes in T regulatory cells signaling pathways and the efficacy of allergic rhinitis immune therapy].

Objective: To investigate the genetic association pattern between single-nucleotide polymorphisms (SNP) of key genes in T regulatory cells signaling pathways and the efficacy of allergic rhinitis (AR) specific immune therapy(SIT).

Methods: A population of 102 AR patients(Beijing Tongren hospital, from January to Decemeber 2012) caused by simple dust mite received standardized specific immune therapy, who lived in Beijing region was recruited. In immunotherapy before and after 1 years of treatment, the study objects were scored by nasal symptoms score, nasal signs score and total score of daily life distress three indicators to assess the efficacy.