Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.

Rare genetic diseases are responsible for a small but significant proportion of childhood morbidity and mortality. The majority of these diseases have no treatment and they create a huge burden on the families and the whole society. A well-tested strategy to prevent these diseases from happening is carrier screening, which can reduce the incidents of autosomal recessive (AR) and X-linked (XL) conditions.

Workplace violence, career identity, and turnover intentions: the mediating role of job burnout among newly recruited rotational nurses.

Background: Nursing turnover is a critical global issue, particularly among newly employed nurses in standardized training. This study explores the relationships between professional identity, workplace violence, burnout, and turnover intention, focusing on the mediating role of burnout.

Methods: A cross-sectional design was used, recruiting 1,058 participants from five tertiary hospitals in Jinan, Shandong.

Novel Meningoencephalomyelitis Associated With Vimentin IgG Autoantibodies.

Importance: Autoantibodies targeting astrocytes, such as those against glial fibrillary acidic protein (GFAP) or aquaporin protein 4, are crucial diagnostic markers for autoimmune astrocytopathy among central nervous system (CNS) autoimmune disorders. However, diagnosis remains challenging for patients lacking specific autoantibodies.

Objective: To characterize a syndrome of unknown meningoencephalomyelitis associated with an astrocytic autoantibody.

Pseudokinase STK40 promotes T1 and T17 cell differentiation by targeting FOXO transcription factors.

Inappropriate CD4 T helper (T) cell differentiation leads to progression of inflammatory and autoimmune diseases, yet the regulatory mechanisms governing stability and activity of transcription factors controlling T cell differentiation remain elusive. Here, we describe how pseudokinase serine threonine kinase 40 (STK40) facilitates T1/T17 differentiation under pathological conditions. STK40 in T cells is dispensable for immune homeostasis in resting mice.

Influential factors and willingness to advocate for HPV vaccination among male nursing interns in China.

Background: Human papillomavirus (HPV) infection significantly contributes to the global cancer burden. Understanding the factors influencing male clinical interns' willingness to promote HPV vaccination is crucial for developing effective public health strategies in China.

Methods: This study employed a stratified random sampling method to select 1,980 male clinical interns from five provinces in China between January and March 2024.

Does brain-derived neurotrophic factor play a role in the association between maternal prenatal mental health and neurodevelopment in 2-year-old children?

Objective: To evaluate the role of brain-derived neurotrophic factor (BDNF)-a crucial modulator of neural development and plasticity-in the association between prenatal maternal anxiety, depression, and perceived stress and child neurodevelopment in a prospective cohort study.

Methods: We included 526 eligible mother-child pairs from the Shanghai Birth Cohort in the study. Maternal mental health was assessed at mid-pregnancy using Zung's Self-Rating Anxiety Scale, Center for Epidemiologic Studies Depression Scale, and Perceived Stress Scale.

Causal associations of birth body size and adult body size with systemic lupus erythematosus: a bidirectional mendelian randomization study.

Objective: Body size is associated with the onset of systemic lupus erythematosus (SLE). However, the evidence for this association is inconclusive. In this study, we aimed to investigate the causal relationship between body size and SLE.

Determinants of HPV vaccine uptake intentions in Chinese clinical interns: an extended theory of planned behavior approach.

Background: This study aims to utilize the extended Theory of Planned Behavior (TPB) model to examine the intentions of clinical interns in China towards Human papillomaviruses (HPV) vaccination. It also fills a significant gap in the literature concerning vaccine acceptance in this specific population.

Methods: This cross-sectional study was carried out with clinical interns in Shandong Province, China, with a total of 1,619 participants.

Role of placental barrier on trace element transfer in maternal fetal system and hypertensive disorders complicating pregnancy and gestational diabetes mellitus.

Background: Hypertensive disorders complicating pregnancy (HDCP) and gestational diabetes mellitus (GDM) can affect the placental barrier function to varying degrees. However, current studies show that the transfer and distribution characteristics of trace elements in the maternal-fetal system are still unclear. This study investigated the effect of the placental barrier on the transfer of trace elements from mother to fetus and its relationship with HDCP and GDM.

Neuroprotective effect of plasmalogens on AlCl-induced Alzheimer's disease zebrafish via acting on the regulatory network of ferroptosis, apoptosis and synaptic neurotransmission release with oxidative stress as the center.

Plasmalogens (Pls) are considered to play a potential role in the treatment of neurodegenerative diseases. In the present study, an Alzheimer's disease (AD) model of zebrafish induced by AlCl was established to investigate whether the marine-derived Pls could alleviate cognitive impairments of AD zebrafish. Behavioral tests were carried out to assess the athletic ability.

Application of aptamer-conjugated graphene oxide for specific enrichment of microcystin-LR in Achatina fulica prior to matrix-assisted laser desorption ionization mass spectrometry.

Microcystin-LR (MC-LR), as a hepatotoxin, can cause liver swelling, hepatitis, and even liver cancer. In this study, MC-LR aptamer (Apt-3) modified graphene oxide (GO) was designed to enrich MC-LR in white jade snail (Achatina fulica) and pond water, followed by matrix-assisted laser desorption ionization mass spectrometry (MALDI-MS) analysis. Results indicated that the Apt-3/PEG/GO nanocomposites were highly specific to MC-LR, and the detection limit of MALDI-MS was 0.

Tumor Suppressor Adenomatous Polyposis Coli Sustains Dendritic Cell Tolerance through IL-10 in a β-Catenin-Dependent Manner.

Dendritic cells (DC) play important roles in balancing immunity and tolerance, in which β-catenin signaling plays an important role, yet the underlying mechanisms remain elusive. In this study, we investigated the functions of the tumor suppressor adenomatous polyposis coli (APC), also a key component of the β-catenin upstream destruction complex in DC. APC depletion in DC does not alter DC and T cell homeostasis under resting conditions.

Vps33B controls Treg cell suppressive function through inhibiting lysosomal nutrient sensing complex-mediated mTORC1 activation.

The suppressive function of regulatory T (Treg) cells is tightly controlled by nutrient-fueled mechanistic target of rapamycin complex 1 (mTORC1) activation, yet its dynamics and negative regulation remain unclear. Here we show that Treg-specific depletion of vacuolar protein sorting 33B (Vps33B) in mice results in defective Treg cell suppressive function and acquisition of effector phenotype, which in turn leads to disturbed T cell homeostasis and boosted antitumor immunity. Mechanistically, Vps33B binds with lysosomal nutrient-sensing complex (LYNUS) and promotes late endosome and lysosome fusion and clearance of the LYNUS-containing late endosome/lysosome, and therefore suppresses mTORC1 activation.

Spatio-Temporal Variation-Induced Group Disparity of Intra-Urban NO Exposure.

Previous studies on exposure disparity have focused more on spatial variation but ignored the temporal variation of air pollution; thus, it is necessary to explore group disparity in terms of spatio-temporal variation to assist policy-making regarding public health. This study employed the dynamic land use regression (LUR) model and mobile phone signal data to illustrate the variation features of group disparity in Shanghai. The results showed that NO exposure followed a bimodal, diurnal variation pattern and remained at a high level on weekdays but decreased on weekends.

Fourier Transform Infrared Spectroscopy: An Innovative Method for the Diagnosis of Ovarian Cancer.

Ovarian cancer is the most lethal gynecologic malignancy due to the late diagnoses at advanced stages, drug resistance and the high recurrence rate. Thus, there is an urgent need to develop new techniques to diagnose and monitor ovarian cancer patients. Fourier transform infrared (FTIR) spectroscopy has great potential in the diagnosis of this disease, as well as the real-time monitoring of cancer development and chemoresistance.

miR‑199a‑3p suppresses cervical epithelial cell inflammation by inhibiting the HMGB1/TLR4/NF‑κB pathway in preterm birth.

Preterm birth (PTB) is the primary cause of neonatal mortality worldwide. Infection and inflammation are considered to be the primary causes of PTB. Cervical remodeling is an important step in the process of preterm delivery, and the destruction of the cervical epithelial barrier and inflammation are important triggers of cervical remodeling.

The mutational burden and oligogenic inheritance in Klippel-Feil syndrome.

Background: Klippel-Feil syndrome (KFS) represents a rare anomaly characterized by congenital fusion of the cervical vertebrae. The underlying molecular etiology remains largely unknown because of the genetic and phenotypic heterogeneity.

Methods: We consecutively recruited a Chinese cohort of 37 patients with KFS.

Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Tumour-induced osteomalacia (TIO) is a very rare paraneoplastic syndrome with bone pain, fractures and muscle weakness, which is mostly caused by phosphaturic mesenchymal tumours (PMTs). Cell-free DNA (cfDNA) has been regarded as a non-invasive liquid biopsy for many malignant tumours. However, it has not been studied in benign tumours, which prompted us to adopt the targeted next-generation sequencing approach to compare cfDNAs of 4 TIO patients, four patients with bone metastasis (BM) and 10 healthy controls.

Fourier Transform Infrared Spectroscopy Monitoring of Dihydroartemisinin-Induced Growth Inhibition in Ovarian Cancer Cells and Normal Ovarian Surface Epithelial Cells.

Purpose: Ovarian cancer is the most lethal of gynecological malignancies. Dihydroartemisinin (DHA), a derivative of artemisinin (ARS), has profound effects against human tumors. The aim of this study was to provide a convenient, cost-efficient technique, Fourier transform infrared (FTIR) spectroscopy, to monitor and evaluate responses to DHA-induced growth inhibition of ovarian cancer cells.

Exome sequencing reveals a novel variant in causing intracranial aneurysm in a Chinese family.

Background: Genetic risk factors play an important role in the pathogenesis of familial intracranial aneurysms (FIAs); however, the molecular mechanisms remain largely unknown.

Objective: To investigate potential FIA-causing genetic variants by rare variant interrogation and a family-based genomics approach in a large family with an extensive multigenerational pedigree with FIAs.

Method: Exome sequencing (ES) was performed in a dominant likely family with intracranial aneurysms (IAs).