Genetic analysis of patients with low-frequency non-syndromic hearing loss.

Low-frequency non-syndromic hearing loss (LFNSHL) is a rare auditory disorder affecting frequencies ≤ 2000 Hz. To elucidate its genetic basis, we conducted whole-exome sequencing on nine Chinese families (31 affected individuals) with LFNSHL. Four heterozygous pathogenic variants, including two novel variants, were identified in common LFNSHL-related genes (WFS1, DIAPH1) and less common genes (TNC, EYA4), achieving a 44% genetic diagnosis rate.

Dual-band ESSPP-SSPP transmission line with independently controllable cutoff frequencies.

In this work, an effective spoof surface plasmon polariton (ESSPP)-SSPP transmission line (TL) is proposed, which can operate in dual bands. Unlike SSPP TL, our ESSPP-SSPP TL allows for relatively accurate parameter estimation, independent control over each cutoff frequency, and low insertion loss. We provided the dispersion relation and closed-form formulas for calculating each cutoff frequency and explained the mechanism behind the independent controllability of each cutoff frequency.

Modeling the distribution of cultural ecosystem services based on future climate variables under different scenarios.

With the far-reaching consequences of worldwide climate variationon ecosystems and human societies, understanding and predicting changes in cultural ecosystem services (CES) is essential for sustainable development policy and resource planning. Past studies have focused on changes and impacts on natural ecosystems, while relatively few studies have been conducted on predictions of CES. This study combines POI datasets with future climate variables under different scenarios into the Maxent model for forecasting the spatial and temporal distribution of CES, which provides strong support for future decision-making.

Identification of a novel FGF3 variant and a new phenotype in three LAMM syndrome families.

Over 700 syndromes associated with hearing loss (HL) have been identified. Labyrinthine aplasia, microtia, and microdontia (LAMM syndrome, OMIM: 610706) is a rare HL syndrome characterized by congenital sensorineural HL, labyrinthine aplasia, type I microtia and microdontia, which is caused by biallelic variants in the FGF3 gene. Using Whole-exome sequencing (WES), we identified a novel missense FGF3 variant (c.

Single-cell atlas of healthy vocal folds and cellular function in the endothelial-to-mesenchymal transition.

The vocal fold is an architecturally complex organ comprising a heterogeneous mixture of various layers of individual epithelial and mesenchymal cell lineages. Here we performed single-cell RNA sequencing profiling of 5836 cells from the vocal folds of adult Sprague-Dawley rats. Combined with immunostaining, we generated a spatial and transcriptional map of the vocal fold cells and characterized the subpopulations of epithelial cells, mesenchymal cells, endothelial cells, and immune cells.

HLA and KIR genetic association and NK cells in anti-NMDAR encephalitis.

Introduction: Genetic predisposition to autoimmune encephalitis with antibodies against N-methyl-D-aspartate receptor (NMDAR) is poorly understood. Given the diversity of associated environmental factors (tumors, infections), we hypothesized that human leukocyte antigen () and killer-cell immunoglobulin-like receptors (), two extremely polymorphic gene complexes key to the immune system, might be relevant for the genetic predisposition to anti-NMDAR encephalitis. Notably, KIR are chiefly expressed by Natural Killer (NK) cells, recognize distinct HLA class I allotypes and play a major role in anti-tumor and anti-infection responses.

Analysis of Efficacy and Safety of Laparoscopy Plus Choledochoscopy Combined With Holmium Laser Lithotripsy for Choledocholithiasis and Hepatolithiasis.

Background: With the advancement of laparoscopic technology, the combination of laparoscopy, choledochoscopy, and holmium laser lithotripsy has emerged as an effective treatment modality for both choledocholithiasis and hepatolithiasis. This study aimed to assess the efficacy and safety of this approach.

Methods: Retrospective analysis was conducted on the medical records of 76 patients diagnosed with choledocholithiasis and hepatolithiasis between April 2021 and March 2023.

Bilateral gene therapy in children with autosomal recessive deafness 9: single-arm trial results.

Gene therapy is a promising approach for hereditary deafness. We recently showed that unilateral AAV1-hOTOF gene therapy with dual adeno-associated virus (AAV) serotype 1 carrying human OTOF transgene is safe and associated with functional improvements in patients with autosomal recessive deafness 9 (DFNB9). The protocol was subsequently amended and approved to allow bilateral gene therapy administration.

[Prokaryotic Expression and Bioinformatic Analysis of Rv3432c From ].

Objective: To express the protein enconded by the 3432 gene of (.) by prokaryotic expression, to analyze the structure of the Rv3432c protein by using bioinformatics software, and to explore for new drug targets against ..

A novel intronic TCOF1 pathogenic variant in a Chinese family with Treacher Collins syndrome.

Background: Treacher Collins syndrome (TCS; OMIM 154500) is a craniofacial developmental disorder.

Methods: To investigate the genetic features of a four-generation Chinese family with TCS, clinical examinations, hearing tests, computed tomography, whole-exome sequencing (WES), Sanger sequencing, reverse transcription (RT)-PCR, and the Minigene assay were performed.

Results: The probands, an 11-year-old male and his cousin exhibited typical clinical manifestations of TCS including conductive hearing loss, downward slanting palpebral fissures, and mandibular hypoplasia.

AAV1-hOTOF gene therapy for autosomal recessive deafness 9: a single-arm trial.

Background: Autosomal recessive deafness 9, caused by mutations of the OTOF gene, is characterised by congenital or prelingual, severe-to-complete, bilateral hearing loss. However, no pharmacological treatment is currently available for congenital deafness. In this Article, we report the safety and efficacy of gene therapy with an adeno-associated virus (AAV) serotype 1 carrying a human OTOF transgene (AAV1-hOTOF) as a treatment for children with autosomal recessive deafness 9.

Enterovirus 71 leads to abnormal mitochondrial dynamics in human neuroblastoma SK-N-SH cells.

EV71, a significant pathogen causing hand-foot-mouth disease, is associated with severe neurological complications such as brain stem encephalitis, aseptic meningitis, and acute flaccid paralysis. While the role of mitochondrial dynamics in regulating the replication of numerous viruses is recognized, its specific involvement in EV71 remains unclear. This study aimed to elucidate the role of mitochondrial dynamics in human neuroblastoma SK-N-SH cells during EV71 infection.

Full-color persistent room temperature phosphorescent elastomers with robust optical properties.

Persistent room temperature phosphorescent materials with unique mechanical properties and robust optical properties have great potential in flexible electronics and photonics. However, developing such materials remains a formidable challenge. Here, we present highly stretchable, lightweight, and multicolored persistent luminescence elastomers, produced by incorporating ionic room temperature phosphorescent polymers and polyvinyl alcohol into a polydimethylsiloxane matrix.

Glutamate-aspartate transporter dysfunction enhances aminoglycoside-induced cochlear hair cell death via NMDA receptor activation.

Glutamate is a crucial neurotransmitter for hearing transduction in the cochlea, but excess glutamate is detrimental to the survival of cochlear sensory cells. Glutamate-aspartate transporter (GLAST) is the major transporter for glutamate removal; however, its role in aminoglycoside-induced hair cell loss is not well studied. In the present study, we first investigated the localization and expression of GLAST over the course of development of the mouse cochlea, and we found that inhibition of GLAST increased hair cell death.

MPZL2 variant analysis with whole exome sequencing in a cohort of Chinese hearing loss patients.

Background: Hearing loss is a genetically heterogeneous disease with more than 100 genes identified. Pathogenic variants in the MPZL2 gene cause autosomal recessive non-syndromic hearing loss. MPZL2 patients showed mild to moderate progressive hearing loss with onset age around 10 years old.

P2X7 receptor is required for the ototoxicity caused by aminoglycoside in developing cochlear hair cells.

Aminoglycoside antibiotics (AGAs) are widely used in life-threatening infections, but they accumulate in cochlear hair cells (HCs) and result in hearing loss. Increases in adenosine triphosphate (ATP) concentrations and P2X7 receptor expression were observed after neomycin treatment. Here, we demonstrated that P2X7 receptor, which is a non-selective cation channel that is activated by high ATP concentrations, may participate in the process through which AGAs enter hair cells.

Quantifying the spatial nonstationary response of influencing factors on ecosystem health based on the geographical weighted regression (GWR) model: an example in Inner Mongolia, China, from 1995 to 2020.

The identification of ecosystem health and its influencing factors is crucial to the sustainable management of ecosystems and ecosystem restoration. Although numerous studies on ecosystem health have been carried out from different perspectives, few studies have systematically investigated the spatiotemporal heterogeneity between ecosystem health and its influencing factors. Considering this gap, the spatial relationships between ecosystem health and its factors concerning climate, socioeconomic, and natural resource endowment at the county level were estimated based on a geographically weighted regression (GWR) model.

Novel WFS1 mutations in patients with low-to-middle frequency hearing loss.

Background: Hearing loss (HL) is the most common sensorineural disorder in human. It is estimated that genetic factors contribute to over 50% of prelingual hearing loss. Most of dominant HHL patients manifest postlingual progressive hearing loss that mainly affect high frequencies.

Analysis of the impact of traditional ethnic villages in Hani area on sustainable development.

Rapid economic development and accelerated urbanization have seriously affected the development of traditional ethnic villages in China. We used the minimum cumulative resistance (MCR) model based on land use, landscape pattern, and ecosystem service value (ESV) to evaluate the spatio-temporal dynamics of sustainable development in Hani traditional ethnic villages from 1995 to 2020. By analyzing changes in sustainability indicators in the Hani area and different buffer zones, this paper aims to assess the impact of ethnic villages in the Hani Area on sustainable development and provide recommendations for the sustainable development of traditional ethnic Hani villages.