Pathogenic Variant in the 5'-Untranslated Region of and Clinical Heterogeneity in a Chinese Family with Dopa-Responsive Dystonia.

Background: Variants in the gene, encoding guanosine triphosphate cyclohydrolase, are associated with dopa-responsive dystonia (DRD) and are considered risk factors for parkinson's disease.

Methods: Comprehensive neurological assessments documented motor and non-motor symptoms in a Chinese family affected by DRD. Whole-exome sequencing (WES) was employed to identify potential mutations, with key variants confirmed by Sanger sequencing and analyzed for familial co-segregation.

Evaluating the effects of time-restricted eating on overweight and obese women with polycystic ovary syndrome: A randomized controlled trial study protocol.

Background: Time-restricted eating (TRE) manages weight effectively, but choosing how long and what time window remain debatable. Although an 8:00 a.m.

Assessing male and female clinicians' intentions for a third child in China: A cross-sectional survey analysis with gender-specific insights.

Background: As fertility rates decline and population ageing intensifies, the conflict between career and childbearing continues to impact clinicians, especially women. Exploring gender differences in the fertility intentions of male and female clinicians could help with identifying barriers to childbearing, developing effective policies to support work-life balance, and addressing the gap in research on gender disparities in this field.

Methods: We conducted a cross-sectional survey among health care personnel in Chinese public hospitals.

Risk factors of large for gestational age among pregnant women with gestational diabetes mellitus: a protocol for systematic review and meta-analysis.

Introduction: Women with gestational diabetes mellitus (GDM) are more likely to give birth to large for gestational age (LGA) infants, due to abnormalities in glucose metabolism during pregnancy. Although previous studies have explored the risk factors for LGA delivery in GDM women, the results are quite different and still lack of unified understanding.

Objective: To explore the elements linked to LGA delivery in GDM women, and thus provide a reference for medical staff to formulate relevant clinical interventions.

A latent class analysis of co-occurring insomnia and anxiety among Chinese pregnant women.

Currently, there remains a paucity of comprehensive evidence concerning the concurrent presence of insomnia and anxiety in pregnant women. This study, employing convenience sampling, enrolled 1049 Chinese pregnant women. Key assessment instruments comprised a three-item Insomnia Symptoms scale, a two-item Generalized Anxiety Disorder Scale, as well as measures of demographic and pregnancy-specific characteristics.

Suppression of cGAS/STING pathway-triggered necroptosis in the hippocampus relates HS to attenuate cognitive dysfunction of Parkinson's disease.

Background: Cognitive dysfunction is the most severe non-motor symptom of Parkinson's disease (PD). Our previous study revealed that hydrogen sulfide (HS) ameliorates cognitive dysfunction in PD, but the underlying mechanisms remain unclear. Hippocampal necroptosis plays a vital role in cognitive dysfunction, while the cGAS/STING pathway triggers necroptosis.

Effect of fecal microbiota transplantation on patients with sporadic amyotrophic lateral sclerosis: a randomized, double-blind, placebo-controlled trial.

Background: Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disorder marked by the progressive loss of motor neurons. Recent insights into ALS pathogenesis underscore the pivotal role of the gut microbiome, prompting an investigation into the potential therapeutic impact of fecal microbiota transplantation (FMT) on sporadic ALS patients.

Methods: Conducted as a double-blind, placebo-controlled, parallel-group, randomized clinical trial, the study enrolled 27 participants from October 2022 to April 2023.

Intracranial aneurysm instability prediction model based on 4D-Flow MRI and HR-MRI.

This study aims to develop a reliable predictive model for assessing intracranial aneurysm (IA) instability by utilizing four-dimensional flow magnetic resonance imaging (4D-Flow MRI) and high-resolution MRI (HR-MRI). Initially, we curated a prospective dataset, dubbed the primary cohort, by aggregating patient data that was consecutively enrolled across two centers from November 2018 to November 2021. Unstable aneurysms were defined as those with symptoms, morphological change or ruptured during follow-up periods.

Chinese advances in understanding and managing genitourinary tract infections caused by Mycoplasma genitalium, Mycoplasma hominis, and Ureaplasma urealyticum.

Mycoplasma genitalium, Ureaplasma urealyticum and Mycoplasma hominis are bacterial pathogens found in the genitourinary tract, implicated in a range of infections. In women, these infections including pelvic inflammatory disease, vaginitis, infertility, and cervical cancer, while in men, they can cause non-gonococcal urethritis, prostate cancer, among other conditions. These infections are a global health concern, with China identified as a country with a high prevalence.

Anti-breast cancer effects of dairy protein active peptides, dairy products, and dairy protein-based nanoparticles.

Breast cancer is the most frequently diagnosed and fatal cancer among women worldwide. Dairy protein-derived peptides and dairy products are important parts of the daily human diet and have shown promising activities in suppressing the proliferation, migration, and invasion of breast cancer cells, both and . Most of the review literature employs meta-analysis methods to explore the association between dairy intake and breast cancer risk.

Network Pharmacology and Molecular Docking-Based Screening of Immunotherapeutic Targets for HuaChanSu Against Breast Cancer.

Breast cancer has emerged as the primary cause of mortality stemming from malignancies among women. HuaChanSu has demonstrated efficacy in suppressing the progression of various malignancies. However, the specific immune targets and pathways influenced by HuaChanSu within mammary tumors remain elusive.

Distribution of disinfectant resistant genes in mcr-1-carrying Escherichia coli isolated from children in southern China.

Background: Colistin, a polymyxin antibiotic, serves as a crucial defense against multidrug-resistant gram-negative bacteria, despite its nephrotoxicity. However, the plasmid-mediated mobilization of the polymyxin resistance gene, mcr-1, presents a significant public health threat. The widespread use of disinfectants has resulted in Escherichia coli (E.

Follicular fluid-derived extracellular vesicles miR-34a-5p regulates granulosa cell glycolysis in polycystic ovary syndrome by targeting LDHA.

Background: Polycystic ovary syndrome (PCOS) is highly prevalent in women of reproductive age worldwide, exhibits highly heterogeneous clinical presentation and biochemical parameters, and has no cure. This study aimed to investigate the role of miR-34a-5p in PCOS, its effect on glycolysis in granulosa cells (GCs), and its potential contribution to follicular dysregulation.

Methods: Herein, Follicular follicular fluid (FF) samples were collected from six patients with PCOS and six healthy controls undergoing in vitro fertilization-embryo transfer.

Simultaneous CNV-seq and WES: An effective strategy for molecular diagnosis of unexplained fetal structural anomalies.

Background: Fetal structural anomalies are detected by ultrasound in approximately 3 % of pregnancies. Numerous genetic diagnostic strategies have been widely applied to identify the genetic causes of prenatal abnormalities. We aimed to assess the value of simultaneous copy number variation sequencing (CNV-seq) and whole exome sequencing (WES) in diagnosing fetuses with structural anomalies.

TBL2 Promotes Tumorigenesis via PRMT5/WDR77-Mediated AKT Activation in Breast Cancer.

Breast cancer (BC) is a common malignancy that affects women worldwide. Although transducing beta-like 2 (TBL2), a member of the WD40 repeat protein family, has been implicated in various intracellular signaling pathways, its precise function in BC remains unclear. The expression of TBL2 is analyzed using real-time PCR, western blotting, and immunohistochemistry in BC patient specimens.

Effect of Intravenous Tirofiban Versus Placebo on First-Pass Successful Reperfusion in Endovascular Stroke Thrombectomy: Insights From the RESCUE BT Randomized Clinical Trial.

Background: First-pass successful reperfusion (FPSR), defined as a successful/complete reperfusion achieved after a single thrombectomy pass, is predictive of favorable outcome in patients with acute ischemic stroke with large-vessel occlusion. It is unknown whether intravenous tirofiban is effective in increasing the rate of FPSR in acute anterior large-vessel occlusion stroke.

Methods And Results: Patients who had acute large-vessel occlusion stroke presenting within 24 hours and underwent endovascular thrombectomy were analyzed from the RESCUE BT (Intravenous Tirofiban for Patients With Large Vessel Occlusion Stroke) clinical trial, of which the main analysis was neutral.

Effectiveness and acceptability of different lifestyle interventions for women with polycystic ovary syndrome: protocol for a systematic review and network meta-analysis.

Introduction: Women with polycystic ovary syndrome (PCOS) experience various metabolic, endocrine, reproductive and psychosocial manifestations. Lifestyle modification is crucial for the management of PCOS to reduce long-term complications. Nonetheless, the efficacy and acceptability of lifestyle interventions differs, and there are no uniform methods of clinical application.

Association between dietary vitamin B6 intake and endometriosis risk: evidence from the national health and nutrition examination survey.

Background: Endometriosis is a multifaceted disorder with genetic, immune, inflammatory, and multifactorial origins. Vitamin B6 serves as a pivotal coenzyme in various metabolic pathways involving lipids, hemes, nucleic acids, proteins, and carbohydrates. Dysregulation or deficiency of vitamin B6 can perturb human physiology.

A Cross-Sectional Study of Risk Factors for Coronary Heart Disease in Secondary Prevention for Patients With the Disease in China.

Aims: To explore risk factors for Coronary Heart Disease (CHD) in secondary prevention for patients with the disease in China.

Design: Cross-sectional study.

Methods: A two-stage sampling method was used (stratified sampling and systematic sampling).