Interpretation of mutations (DNM) and genetic counseling for sporadic hearing loss based on family trio-based sequencing.

mutations (DNMs) are significant genetic factors contributing to sporadic hearing loss (HL) and complex HL syndromes. To analyze the genetic counseling characteristics and interpretation of pathogenic DNMs for sporadic HL, we retrospectively analyze the clinical information of probands and their parents from 410 sporadic HL core pedigrees enrolled in the "Chinese Deafness Genome Project (CDGP)" between October 2015 and October 2023. We apply family trio-based genome sequencing (targeted gene capture and high throughput sequencing, mitochondrial genome sequencing, and copy number variants analysis) and validate the samples of their unaffected-parents.

[Clinical features of benign paroxysmal positional vertigo in children].

To explore relevant factors to accurately diagnose BPPV in vertigo children. A retrospective study was conducted on the proportion of BPPV in children（<18 years） with vertigo who visited the Hearing and Vertigo Diagnosis and Treatment Center of Tianjin Medical University General Hospital from September 2017 to August 2023. The clinical characteristics of BPPV children, including general demographics, medical history, first visit department, comorbidities, canal involvement, response to treatment, and incidence of recurrence, were analyzed.

[Clinical characteristics and analysis of drug treatment efficacy in hospitalized patients with sudden hearing loss due to enlarged vestibular aqueduct syndrome].

To explore the clinical characteristics, audiological outcomes, and factors influencing the efficacy of pharmacological treatment in patients with sudden hearing loss associated with large vestibular aqueduct syndrome（LVAS）. A retrospective analysis was conducted on the clinical data of 77 bilateral LVAS patients（117 ears） hospitalized for sudden hearing loss from January 1, 2009, to December 31, 2023. The inclusion criteria required that patients to be diagnosed according to the Valvassori standard and had received standardized pharmacological treatment.

[Clinical characteristics and therapeutic effect analysis of blast-induced hearing loss].

To investigate the clinical characteristics and treatment outcomes of patients with blast-induced hearing loss（BIHL）. The clinical features, laboratory parameters, audiometric profiles, and treatment efficacy of patients with blast induced hearing loss and those with idiopathic sudden hearing loss（ISHL） were analyzed using t-tests, Wilcoxon rank-sum tests, and chi-square tests, with a significance level set at <0.05.

[Effect of sudden sensorineural hearing loss patients with or without dizziness/vertigo on auditory prognosis in patients with moderately severe hearing loss and above].

To analyze the incidence and impact on the auditory prognosis of vertigo/dizziness in sudden sensorineural hearing loss patients with moderately severe hearing loss and above. Clinical data of patients with unilateral sudden sensorineural hearing loss hospitalized from January 2008 to December 2022, aged 18-60 years, PTA≥50 dB HL, and within 14 days of onset were selected. Based on the clinical records of sudden sensorineural hearing loss patients, we determined whether they were accompanied by vertigo/dizziness.

[Clinical characteristics of sudden sensorineural hearing loss patients accompanying diabetes mellitus and efficacy analysis via propensity score matchin].

To summarize and analyze the clinical characteristics of patients with sudden sensorineural hearing loss（SSHL） accompanying diabetes mellitus, to explore whether diabetes affects the treatment outcomes during hospitalization, and to identify the factors influencing the efficacy of SSHL patients with diabetes. A retrospective analysis was conducted on clinical data from 939 patients with SSHL. The baseline characteristics, and onset conditions of the diabetes group（79 cases） and the non-diabetes group（860 cases） were compared.

[A Study on the hearing level of high-risk children of diabetic mothers].

To analyze the hearing outcomes of high-risk children of diabetic mothers, especially in the subtypes of pre-pregnancy diabetes and gestational diabetes, in order to provide some reference for clinical practice. The basic characteristics and hearing levels of children whose mothers had a history of diabetes during pregnancy and underwent audiological diagnosis and evaluation at our hospital's Children's Hearing Diagnosis Center from January 2003 to June 2024 were analyzed. T-tests, Wilcoxon rank-sum tests, and chi-square tests were used for inter-group comparisons, with a significance level set at <0.

[Research status and future strategies for refractory inner ear disease].

Refractory inner ear disease refers to a spectrum of inner ear diseases that fail to achieve good therapeutic effects even after standardized treatment recommended by existing clinical practice guidelines. This disease spectrum is characterized by diverse etiological factors, high phenotypic heterogeneity, unclear subtype characteristics, unknown pathogenic mechanisms, and variable prognosis, making it difficult to define precisely. Refractory inner ear disease accounts for a significant proportion of the total population with inner ear diseases and has not been systematically summarized, refined, and deeply studied to date.

From Profiles to Structure in Cochlear Nerve: A Clinical Study of Auditory Neuropathy.

Objectives: To investigate the clinical and audiological features in auditory neuropathy (AN) patients with different image performance of cochlear nerve (CN) on MRI.

Methods: AN patients were selected from the Multicenter Study on Clinical Diagnosis and Intervention of AN (2003-2023). Subjects were divided into four groups by CN size on MRI: bilateral AN with CN normalization (BAN), bilateral CN deficiency (BAN), unilateral AN with CND (UAN), and CN normalization (UAN) groups.

Construction and Effect Analysis of a Mixed Flora for Straw Returning to Albic Soil in Northeast China.

This research targets straw return in Farm 852's albic soil, China. The soil is nutrient-poor with few microbes and slow straw decomposition. Through fixed-point sampling and bacterial screening, an actinomycete consortium consisting of four strains was assembled, and two of them were identified as new actinomycetes.

Mechano-electrical transduction components TMC1-CIB2 undergo a Ca-induced conformational change linked to hearing loss.

TMC1, a unique causative gene associated with deafness, exhibits variants with autosomal dominant and recessive inheritance patterns. TMC1 codes for the transmembrane channel-like protein 1 (TMC1), a key component of the mechano-electrical transduction (MET) machinery for hearing. However, the molecular mechanism of Ca regulation in MET remains unclear.

Effects of Supplementation on Growth Performance, Hepatic Lipid Metabolism, and mRNA Expression of Lipid Metabolism Genes and Intestinal Flora in Geese.

The effects of () at a concentration of 1.0 × 10 CFU/mL on growth performance, hepatic lipid metabolism, and mRNA expression related to lipid metabolism, intestinal morphology, and intestinal flora were investigated in geese. A total of 60 male geese, aged 30 days and of similar weight, were randomly assigned to 2 groups.

Sleep-Associated Traits and Hearing Difficulties in Noise: A Bidirectional Mendelian Randomization Study.

Objectives: The aim of this study was to investigate the causal relationships between sleep-associated traits and hearing difficulties in noise (HDinN) by Mendelian randomization (MR) analysis.

Design: Single nucleotide polymorphisms associated with chronotype, insomnia, sleep duration, daytime dozing or sleeping, and ease of getting up in the morning were extracted from European population genome-wide association study pooled data for bidirectional MR analysis. The MR-Egger regression, the inverse variance weighted technique, and the weighted median method were used for data analysis.

Identification of genetic mechanisms of non-isolated auditory neuropathy with various phenotypes in Chinese families.

Background: Non-isolated auditory neuropathy (AN), or syndromic AN, is marked by AN along with additional systemic manifestations. The diagnostic process is challenging due to its varied symptoms and overlap with other syndromes. This study focuses on two mitochondrial function-related genes which result in non-isolated AN, FDXR and TWNK, providing a summary and enrichment analysis of genes associated with non-isolated AN to elucidate the genotype-phenotype correlation and underlying mechanisms.

Current trends and hotspots of etiology of auditory neuropathy in the past 30 years: A bibliometric analysis.

Objective: To make an overview of global research trends in the etiology of auditory neuropathy (AN) over the past 30 years using a bibliometric approach.

Methods: Bibliometric analyses were conducted by GraphPad Prism 9.0, Citespace 6.

Long non-coding RNAs-sphingolipid metabolism nexus: Potential targets for cancer treatment.

Long non-coding RNAs (lncRNAs) have emerged as pivotal regulators of cancer pathogenesis, influencing various cellular processes and contributing to tumorigenesis. Sphingolipid metabolism has garnered interest as a potential target for cancer therapy owing to its considerable diagnostic and prognostic value. Recent studies have demonstrated that lncRNAs regulate tumor-associated metabolic reprogramming via sphingolipid metabolism.

[Research on the prognosis and efficacy criteria of sudden sensorineural hearing loss].

Sudden sensorineural hearing loss is a common and frequently-occurring disease. Looking at the efficacy evaluation of the diagnosis and treatment of sudden sensorineural hearing loss at home and abroad, each country has its own characteristics in the indicators and criteria of the treatment efficacy evaluation, and the common indicators of efficacy evaluation include: average pure-tone hearing threshold, the absolute value of hearing improvement of impaired frequency, the percentage of average pure-tone hearing threshold increase, speech discrimination score, speech recognition threshold, etc. The evaluation criteria mostly take the efficacy grade or the improvement level of average hearing threshold as the criterion of effective treatment, and the lack of unified standards is not conducive to the homogenization of global research related to sudden sensorineural hearing loss.

Identification of a novel EYA4 likely pathogenic variant in a Chinese family with postlingual non-syndromic hearing loss and analysis of molecular epidemiology of EYA4 variants.

Background: EYA4 variants are responsible for DFNA10 deafness. Due to its insidious onset and slow progression, hearing loss in autosomal dominant non-syndromic hearing loss (ADNSHL) is usually challenging to detect early in clinical settings, with limited intervention options. Genetic testing can aid in early detection of hearing loss, enabling timely intervention to reduce disability rates and improve the quality of life.

[Correlation between Morphological Typing and Monoclonality of Bone Marrow Plasma Cells and Its Diagnostic Value for High-Risk Smoldering Multiple Myeloma].

Objective: To investigate the correlation between morphological typing and monoclonality of bone marrow plasma cells, and explore the diagnostic value of plasma cell morphological typing for high-risk smoldering multiple myeloma(HR-SMM).

Methods: The correlation between the morphological characteristics and the monoclonality of bone marrow plasma cells was analyzed in 84 patients with HR-SMM who treated in our hospital. The consistency of morphologically abnormal bone marrow plasma cells with serum free light chain (sFLC) ratio, next-generation sequencing (NGS) detection results, and its correlation with monoclonal plasma cells detected by flow cytometry (FCM) were further verified.

Comprehensive analysis of the differential expression of mRNAs, lncRNAs, and miRNAs in Zi goose testis with high and low sperm mobility.

Sperm mobility (SM) is an objective index for measuring sperm motility; however, the mechanisms underlying its regulation in geese remain unclear. The present study sought to elucidate the genetic mechanism underlying SM traits in Zi geese (Anser cygnoides L.).

Impacts of farming activities on carbon deposition based on fine soil subtype classification.

Introduction: Soil has the highest carbon sink storage in terrestrial ecosystems but human farming activities affect soil carbon deposition. In this study, land cultivated for 70 years was selected. The premise of the experiment was that the soil could be finely categorized by subtype classification.