Saliva Sample-Based Non-Invasive Carrier Screening for Spinal Muscular Atrophy, Hereditary Hearing Loss, and Thalassemia in 13,926 Women of Reproductive Age From South Zhejiang.

Background: Although spinal muscular atrophy (SMA), hereditary hearing loss (HL), and thalassemia are common monogenic genetic diseases, the carrier frequencies and variant spectrums of these diseases show regional differences, even within China. Their carrier frequencies and variant spectrums in Southern Zhejiang, China are unclear.

Methods: Saliva was collected for carrier screening and amniotic fluid, villi, and peripheral blood were collected for prenatal diagnosis.

[Genetic analysis of two novel variants in a Chinese pedigree affected with intellectual disorder].

Objective: To explore the clinical phenotype and genetic characteristics of two siblings with intellectual disability.

Methods: Clinical data and peripheral blood samples were collected from the proband, his younger sister and parents whom had presented at Wenzhou Central Hospital in February 2024. Low-coverage massively parallel copy number variation sequencing (CNV-seq) and whole exome sequencing (WES) were carried out for the family.

Molecular Characterization of Organosulfur and Organonitrogen Compounds in Summer and Winter PM via UHPLC-Q-Orbitrap MS/MS.

Organosulfur and organonitrogen compounds (OrgSs and OrgNs) notably influence haze formation, reflecting the intricacies of sulfur and nitrogen chemistry in the atmospheric process. Despite this, a comprehensive understanding of OrgSs and OrgNs remains elusive. Here, we conducted molecular analyses of OrgSs and OrgNs in PM concurrently during three haze episodes in winter and summer from 2016 to 2019.

Continuous intraocular pressure variations following positional transitions in normal subjects and open angle glaucoma patients using a contact lens sensor system.

Purpose: To evaluate the efficacy of a novel contact lens sensor system (CLS) in detecting continuous intraocular pressure (IOP) variations following positional transitions, and to explore these IOP variation patterns among normal subjects, untreated glaucoma patients, and untreated ocular hypertension (OHT) subjects.

Methods: This prospective comparative study included 20 normal subjects, 14 high tension glaucoma (HTG) patients, 16 normal tension glaucoma (NTG) patients, and 14 OHT subjects. Participants wore the CLS for continuous IOP monitoring while undergoing sequential body position changes: from sitting to supine to a 10° head-down tilt (HDT), with each position maintained for ten minutes.

The Impact of Intraocular Pressure Changes on Corneal Biomechanics in Primary Open-angle Glaucoma.

Purpose: To investigate the relationship between intraocular pressure (IOP) changes and corneal biomechanical properties, determine the quantitative relationship between IOP changes and corneal biomechanical properties in patients with glaucoma and observe the differences among different types of glaucoma when the effects of high-level IOP were excluded.

Design: Prospective clinical cohort study.

Methods: Setting: Institutional.

Efficient segmentation of fetal brain MRI based on the physical resolution.

Background: The image resolution of fetal brain magnetic resonance imaging (MRI) is a critical factor in brain development measures, which is mainly determined by the physical resolution configured in the MRI sequence. However, fetal brain MRI are commonly reconstructed to 3D images with a higher apparent resolution, compared to the original physical resolution.

Purpose: This work is to demonstrate that accurate segmentation can be achieved based on the MRI physical resolution, and the high apparent resolution segmentation can be achieved by a simple deep learning module.

Associations between the choroid plexus and tau in Alzheimer's disease using an active learning segmentation pipeline.

Background: The cerebrospinal fluid (CSF), primarily generated by the choroid plexus (ChP), is the major carrier of the glymphatic system. The alternations of CSF production and the ChP can be associated with the Alzheimer's disease (AD). The present work investigated the roles of the ChP in the AD based on a proposed ChP image segmentation pipeline.

PLPPR4 haploinsufficiency causes neurodevelopmental disorders by disrupting synaptic plasticity via mTOR signalling.

Phospholipid phosphatase related 4 (PLPPR4), a neuron-specific membrane protein located at the postsynaptic density of glutamatergic synapses, is a putative regulator of neuronal plasticity. However, PLPPR4 dysfunction has not been linked to genetic disorders. In this study, we report three unrelated patients with intellectual disability (ID) or autism spectrum disorder (ASD) who harbour a de novo heterozygous copy number loss of PLPPR4 in 1p21.

Classification and sources of extremely severe sandstorms mixed with haze pollution in Beijing.

Air quality has significantly improved in China; however, new challenges emerge when dust weather is combined with haze pollution during spring in northern China. On March 15, 2021, an extremely severe sandstorm occurred in Beijing, with hourly maximum PM and PM concentrations reaching 5267.7 μg m and 963.

Neuroinflammation and brain-peripheral interaction in ischemic stroke: A narrative review.

Excessive immune activation within the lesion site can be observed after stroke onset. Such neuroinflammation within the brain parenchyma represents the innate immune response, as well as the result of the additional interactions between peripheral and resident immune cells. Accumulative studies have illustrated that the pathological process of ischemic stroke is associated with resident and peripheral immunity.

Novel Wet Electrospinning Inside a Reactive Pre-Ceramic Gel to Yield Advanced Nanofiber-Reinforced Geopolymer Composites.

Electrospinning is a versatile approach to generate nanofibers in situ. Yet, recently, wet electrospinning has been introduced as a more efficient way to deposit isolated fibers inside bulk materials. In wet electrospinning, a liquid bath is adopted, instead of a solid collector, for fiber collection.

Novel compound heterozygous synonymous and missense variants in the MYO7A gene identified by next-generation sequencing in a Chinese family with nonsyndromic hearing loss.

Background: Variants in the MYO7A gene are increasingly identified among patients suffering from Usher syndrome type 1B (USH1B). However, such mutations are less commonly detected among patients suffering from nonsyndromic hearing loss (NSHL), including autosomal recessive deafness (DFNB2) and autosomal dominant deafness (DFNA11). This research attempts to clarify the genetic base of DFNB2 in a Chinese family and determine the pathogenicity of the identified mutations.

Corneal Stiffness and Modulus of Normal-Tension Glaucoma in Chinese.

Purpose: To assess and compare the corneal biomechanics of normal-tension glaucoma (NTG), high-tension glaucoma (HTG), and normal controls based on stiffness and modulus. The correlations among central corneal thickness (CCT), visual field, retinal nerve fiber layer (RNFL) thickness, and corneal biomechanics in glaucoma eyes were also evaluated.

Design: A prospective, cross-sectional, comparative study.

Unbalanced emission reductions and adverse meteorological conditions facilitate the formation of secondary pollutants during the COVID-19 lockdown in Beijing.

During the coronavirus disease 2019 (COVID-19) lockdown in 2020, severe haze pollution occurred in the North China Plain despite the significant reduction in anthropogenic emissions, providing a natural experiment to explore the response of haze pollution to the reduction of human activities. Here, we study the characteristics and causes of haze pollution during the COVID-19 outbreak based on comprehensive field measurements in Beijing during January and February 2020. After excluding the Spring Festival period affected by fireworks activities, we found the ozone concentrations and the proportion of sulfate and nitrate in PM increased during the COVID-19 lockdown compared with the period before the lockdown, and sulfate played a more important role.

[Analysis of ARID1B gene variants in two Chinese pedigrees with Coffin-Siris syndrome].

Objective: To explore the genetic basis for two Chinese pedigrees affected with Coffin-Siris syndrome (CSS).

Methods: Whole exome sequencing (WES) was carried out for the probands. Candidate variants were verified by Sanger sequencing of the probands and their family members.

Wide Corneal Epithelial Thickness Mapping in Eyes With Topical Antiglaucoma Therapy Using Optical Coherence Tomography.

Purpose: The purpose of this study was to assess the corneal epithelial thickness (CET) of the 9-mm diameter zone in patients treated using topical antiglaucoma medications and to evaluate the factors associated with CET changes.

Methods: Seventy-five patients treated using topical antiglaucoma medications and 65 healthy subjects were included in this cross-sectional study. Each patient completed the Ocular Surface Disease Index (OSDI) questionnaire and underwent examinations including the Schirmer I test, tear breakup time (TBUT), and fluorescein staining.

A Novel Indentation Assessment to Measure Corneal Biomechanical Properties in Glaucoma and Ocular Hypertension.

Purpose: To evaluate the ability of the new in vivo corneal indentation device (CID) to measure corneal biomechanical properties.

Methods And Results: In total, 186 eyes from 46 healthy subjects, 107 patients with primary open-angle glaucoma, and 33 patients with ocular hypertension were enrolled in a cross-sectional study. Measurements were performed using corneal visualization Scheimpflug technology (Corvis ST) and the CID.

The variations in human orphan G protein-coupled receptor QRFPR affect PI3K-AKT-mTOR signaling.

Background: QRFPR is a recently identified member of the G protein-coupled receptor and is an orphan receptor for 26Rfa, which plays important role in the regulation of many physiological functions.

Methods: Here, we employed whole exome sequencing (WES) to examine the patients with intellectual disability (ID) and difficulty in feeding. We performed SIFT and PolyPhen2 predictions for the variants.

Prenatal diagnosis of 7 cases with uniparental disomy by utilization of single nucleotide polymorphism array.

Background: The phenotypes of uniparental disomy (UPD) are variable, which may either have no clinical impact, lead to clinical signs and symptoms. Molecular analysis is essential for making a correct diagnosis. This study involved a retrospective analysis of 4512 prenatal diagnosis samples and explored the molecular characteristics and prenatal phenotypes of UPD using a single nucleotide polymorphism (SNP) array.

Genetic analysis and prenatal diagnosis of 20 Chinese families with oculocutaneous albinism.

Background: Oculocutaneous albinism (OCA) is a group of heterogeneous genetic disorders characterized by abnormal melanin synthesis in the hair, skin, and eyes. OCA exhibits obvious genetic and phenotypic heterogeneity. Molecular diagnosis of causal genes can be of help in the classification of OCA subtypes and the study of OCA pathogenesis． METHODS: In this study, Sanger sequencing and whole exome sequencing were used to genetically diagnose 20 nonconsanguineous Chinese OCA patients.

Next-generation sequencing identifies rare pathogenic and novel candidate variants in a cohort of Chinese patients with syndromic or nonsyndromic hearing loss.

Background: Hearing loss (HL) is a common sensory disorder in humans characterized by extreme clinical and genetic heterogeneity. In recent years, next-generation sequencing (NGS) technologies have proven to be highly effective and powerful tools for population genetic studies of HL. Here, we analyzed clinical and molecular data from 21 Chinese deaf families who did not have hotspot mutations in the common deafness genes GJB2, SLC26A4, GJB3, and MT-RNR1.

Characteristics and seasonal variations of high-molecular-weight oligomers in urban haze aerosols.

Organic aerosols (OA) undergo sophisticated physiochemical processes in the atmosphere, playing a crucial role in extreme haze formations over the Northern China Plain. However, current understandings of the detailed composition and formation pathways are limited. In this study, high-molecular weight (HMW) species were observed in samples collected year-round in urban Beijing, especially in autumn and winter, during 2016-2017.