[Clinical characteristics and pathogenic variant analysis in a pedigree with syndromic hearing loss caused by likely pathogenic variants in the gene].

To investigate the pathogenic variants and function of a pedigree with syndromic hearing loss using high-throughput sequencing. Detailed medical history and pedigree history were inquired, and a pedigree chart was drawn. Hearing examinations were performed on this pedigree, and whole-exome sequencing and bioinformatics analysis were performed to screen for suspected pathogenic variants.

Vitamin D Supplementation Reduces Hyperlipidemia and Improves Bone Mass in Pediatric Obesity.

The objective of this study was to provide guidelines to clinicians for the evaluation, treatment, and prevention of vitamin D deficiency with an emphasis on the care of patients who are at risk for obesity and diabetes. Our aim was to determine the relationship between vitamin D3 and metabolic syndrome, and investigate the effect of vitamin D3 supplementation on hyperlipidemia, glucose metabolism, and bone mass in pediatric patients with obesity. We conducted a study between January 2018 and January 2020, with a total of 723 children invited to participate.

[Efficacy and safety assessment of transnasal nebulisation of budesonide in children with adenoid hypertrophy].

To investigate the efficacy and assess the safety of transnasal nebulisation of budesonide in children with adenoid hypertrophy. Children with adenoid hypertrophy who attended the Children's Hospital of Zhejiang University School of Medicine between December 2021 and December 2022 were randomly assigned to budesonide high-dose group（Group A: budesonide 1 mg/dose + saline nasal rinse）, budesonide low-dose group（Group B: budesonide 0.5 mg/dose + saline nasal rinse）, and control group（Group C: saline nasal rinse）, and each group 20 children were collected separately, The efficacy and safety of transnasal nebulisation of budesonide in children with adenoid hypertrophy were assessed by comparing the symptomatic VAS scores, adenoidal nasopharyngeal lateral radiographs A/N values, nocturnal sleep oximetry（SaO2）, and the incidence of adverse events during the treatment period of 8-week in the three groups.

Baseline triglyceride-glucose, body mass index, end-diastolic internal diameter of the left atria and creatinine are independent predictors for pulmonary hypertension in coronary artery disease patients after percutaneous coronary intervention treatments.

To identify the predictive role of triglyceride-glucose (TyG) index in pulmonary hypertension (PH) in coronary artery disease (CAD) patients after percutaneous coronary intervention (PCI) treatment. Blood biomarkers have been measured at the cross-section of entrance. The baseline and followed-up echocardiography have been performed at both cross-sections.

Effect of soil and community factors on the yield and medicinal quality of growth at different altitudes of the Funiu mountain.

Altitude and ecological factors significantly influence plant growth and the accumulation of secondary metabolites. However, current research on the impact of altitude and ecological factors on the yield and medicinal quality of is limited. This study established sampling sites in wild populations of across seven altitude ranges on Funiu Mountain.

Pain scores reduction with the use of ultrasound-guided paracervical nerve block in patients with cervical cancer undergoing intracavitary brachytherapy: A randomized controlled trial.

Study Objective: To determine the safety and effectiveness of ultrasound-guided paracervical nerve blocks for the painless treatment of patients with cervical cancer post-implantation.

Design: Single-center randomized controlled trial.

Setting: Fourth Hospital of Hebei Medical University (July 2023 to October 2023).

Integrated Thermal Proteome Profiling and Affinity Ultrafiltration Mass Spectrometry (iTPAUMS): A Novel Paradigm for Elucidating the Mechanism of Action of Natural Products.

Natural products (NPs) are foundational to drug discovery, offering a rich repertoire of molecular diversity with multifaceted modes of action against a broad array of targets. Despite their potential, deconvoluting the intricate mechanism of action (MoA) of NPs, characterized by their multicomponent, multitarget, and multilevel interactions, remains a formidable challenge. Here, we introduce an innovative pipeline called integrated thermal proteome profiling and affinity ultrafiltration mass spectrometry (iTPAUMS).

Novel scoring system incorporating lipoproteins to predict outcomes of epithelial ovarian cancer patients.

Objective: Epithelial ovarian cancer is the most lethal gynecological malignancy worldwide. While common prognostic factors are identified, the impact of serum lipoproteins remains controversial. This retrospective cohort study aims to investigate the association between specific lipoprotein levels and prognosis.

Exendin-4 intervention attenuates atherosclerosis severity by modulating myeloid-derived suppressor cells and inflammatory cytokines in ApoE mice.

Objective: To investigate the impact of the glucagon-like peptide-1 (GLP-1) receptor agonist Exendin-4 on the proportion of myeloid-derived suppressor cells (MDSCs) in male ApoE mice, and investigate alterations in the concentrations of inflammatory factors in plasma and spleen tissues and assess their correlation with MDSCs.

Methods: Thirty male ApoE mice were randomly divided into five groups (n = 6 per group): control group (CON), model group (MOD), Exendin-4 intervention group (MOD/Ex-4), Exendin-9-39 intervention group (MOD/Ex-9-39), and Exendin-4 + Exendin-9-39 combined intervention group (MOD/Ex-4 + Ex-9-39). After 4 weeks of drug intervention, changes in aortic plaque were observed using Oil Red O staining and H&E staining.

Integrated metabolomics and proteomics analyses to reveal anticancer mechanism of hemp oil extract in colorectal cancer.

Cannabis sativa L., with a rich history in Chinese folk medicine, includes hemp strains that offer substantial economic and medical benefits due to their non-addictive properties. Hemp has demonstrated various pharmaceutical activities, including anti-inflammatory, antioxidant, and anti-tumor effects.

The de novo missense mutation F224S in GABRB2, identified in epileptic encephalopathy and developmental delay, impairs GABAR function.

Genetic variants in genes encoding subunits of the γ-aminobutyric acid-A receptor (GABAR) have been found to cause neurodevelopmental disorders and epileptic encephalopathy. In a patient with epilepsy and developmental delay, a de novo heterozygous missense mutation c.671 T > C (p.

Root growth characteristics and antioxidant system of in response to the short-term nitrogen and phosphorus addition in the Yellow River Delta.

Human activities have increased nitrogen (N) and phosphorus (P) inputs to the Yellow River Delta and the supply level of N and P affects plant growth as well as ecosystem structure and function directly. However, the root growth, stoichiometry, and antioxidant system of plants in response to N and P additions, especially for herbaceous halophyte in the Yellow River Delta (YRD), remain unknown. A field experiment with N addition (0, 5, 15, and 45 g N m yr, respectively) as the main plot, and P addition (0 and 1 g N m yr, respectively) as the subplot, was carried out with a split-plot design to investigate the effects on the root morphology, stoichiometry, and antioxidant system of .

Objective assessment of the association between telomere length, a biomarker of aging, and health screening indicators: A cross-sectional study.

Physical examination data are used to indicate individual health status and organ health, and understanding which physical examination data are indicative of physiological aging is critical for health management and early intervention. There is a lack of research on physical examination data and telomere length. Therefore, the present study analyzed the association between blood telomere length and physical examination indices in healthy people of different ages to investigate the role and association of various organs/systems with physiological aging in the human body.

Impact of culture media pre-equilibration methods on embryo development.

This study investigates the influence of four culture media pre-equilibration methods on embryo development and clinical pregnancy outcomes. The methods are as follows: Method A involved covering media with fresh mineral oil in humid-type incubators for 24 h. Method B replicated Method A in dry-type incubators.

A Modular Communicative Leadless Pacing-Defibrillator System.

Background: The subcutaneous implantable cardioverter-defibrillator (ICD) is associated with fewer lead-related complications than a transvenous ICD; however, the subcutaneous ICD cannot provide bradycardia and antitachycardia pacing. Whether a modular pacing-defibrillator system comprising a leadless pacemaker in wireless communication with a subcutaneous ICD to provide antitachycardia and bradycardia pacing is safe remains unknown.

Methods: We conducted a multinational, single-group study that enrolled patients at risk for sudden death from ventricular arrhythmias and followed them for 6 months after implantation of a modular pacemaker-defibrillator system.

A novel XNA-based Luminex assay to detect UBA1 somatic mutations associated with VEXAS syndrome.

Objectives: Patients with VEXAS syndrome carry mutations of UBA1 gene coding for the E1 enzyme. The three most frequent mutations are p.M41T(122T > C), p.

Segregation, immunohistochemical, molecular and functional analyses classify a novel missense variant in fumarate hydratase (FH) as pathogenic.

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant cancer predisposition syndrome characterized by cutaneous leiomyomas, uterine leiomyomas, and aggressive renal cancer. Germline variants in the fumarate hydratase (FH) gene predispose to HLRCC. Identifying germline pathogenic FH variants enables lifetime renal cancer screening and genetic testing for family members.

Family History of Type 2 Diabetes and Its Association with Beta Cell Function and Lipid Profile in Newly Diagnosed Pediatric Patients with Type 1 Diabetes.

Objective: The objective of this study was to explore the associations between a family history of type 2 diabetes (T2D) and beta-cell function, as well as lipid profile, in pediatric patients newly diagnosed with type 1 diabetes (T1D).

Methods: A retrospective analysis was conducted on children under 14 years of age who were newly diagnosed with T1D at the Children's Hospital of Zhejiang University between August 2018 and August 2022. Clinical features, metabolic profiles, beta-cell function, and lipid profile were evaluated.

Dexmedetomidine nasal administration improves perioperative sleep quality and neurocognitive deficits in elderly patients undergoing general anesthesia.

Objective: To investigate the improvement of perioperative sleep quality and neurocognitive impairment in elderly patients under general anesthesia by nasal administration of dexmedetomidine.

Methods: One hundred and twenty patients admitted to our hospital for various laparoscopic elective gynecological surgeries lasting more than 1 h under general anesthesia from July 2021 to March 2023 were selected. All subjects were divided into 3 groups according to the random number table method.

Dent disease 1-linked novel CLCN5 mutations result in aberrant location and reduced ion currents.

Dent disease is a rare renal tubular disease with X-linked recessive inheritance characterized by low molecular weight proteinuria (LMWP), hypercalciuria, and nephrocalcinosis. Mutations disrupting the 2Cl/1H exchange activity of chloride voltage-gated channel 5 (CLCN5) have been causally linked to the most common form, Dent disease 1 (DD1), although the pathophysiological mechanisms remain unclear. Here, we conducted the whole exome capture sequencing and bioinformatics analysis within our DD1 cohort to identify two novel causal mutations in CLCN5 (c.

Attenuated peripheral oxygen extraction and greater cardiac output in women with posttraumatic stress disorder during exercise.

Posttraumatic stress disorder (PTSD) is associated with an increased risk of developing cardiovascular disease, especially in women. Evidence indicates that men with PTSD exhibit lower maximal oxygen uptake (V̇o) relative to controls; however, whether V̇o is blunted in women with PTSD remains unknown. Furthermore, it is unclear what determinants (i.

An Atypical Incontinentia Pigmenti Female with Persistent Mucocutaneous Hyperinflammation and Immunodeficiency Caused by a Novel Germline IKBKG Missense Mutation.

While most missense mutations of the IKBKG gene typically result in Ectodermal Dysplasia with Immunodeficiency, there have been rare reported instances of missense mutations of the IKBKG gene causing both Incontinentia Pigmenti (IP) and immunodeficiency in female patients. In this study, we described an atypical IP case in a 19-year-old girl, characterized by hyperpigmented and verrucous skin areas over the entire body. Remarkably, she experienced recurrent red papules whenever she had a feverish upper respiratory tract infection.