Whole-exome sequencing uncovers the genetic basis of hereditary concomitant exotropia in ten Chinese pedigrees.

Purpose: To explore possible pathogenic genes for concomitant exotropia using whole-exome sequencing.

Methods: In this study, 47 individuals from 10 concomitant exotropia (including intermittent exotropia and constant exotropia) pedigrees were enrolled. Whole-exome sequencing was used to screen mutational profiles in 25 affected individuals and 10 unaffected individuals.

Effects of mixed exposure to PFAS on adolescent non-alcoholic fatty liver disease: Integrating evidence from human cohorts, toxicogenomics, and animal models to uncover mechanisms and potential target sites.

Extensive evidence suggests a correlation between environmental pollutants, specifically perfluoroalkyl and polyfluoroalkyl substances (PFAS) and non-alcoholic fatty liver disease (NAFLD). This study aims to investigate the association and underlying mechanisms of PFAS-induced NAFLD in adolescents by employing a comprehensive approach of population-based studies, toxicogenomics, and animal models. A total of 2014 freshmen from Dali University were recruited for this study, with 1694 participants undergoing serum testing for PFAS exposure.

Multi-omics analysis reveals indicator features of microbe-host interactions during colonization and subsequent infection.

Introduction: gastrointestinal (GI) colonization is crucial for the onset of invasive disease. This research encompassed 31 patients diagnosed with spp. bloodstream infections during their admission to a university hospital in China.

Design, synthesis, and biological evaluation of novel highly potent FXR agonists bearing piperidine scaffold.

Metabolic dysfunction-associated steatohepatitis (MASH) has become a serious threat to human health, which exhibited an increasing prevalence globally. Recently, the farnesoid X receptor (FXR) has been identified as a promising strategy for the treatment of MASH by regulating multiple pathogenesis. In this study, a new series of FXR agonists bearing piperidine scaffold was designed to reduce the high lipophilicity of the existing FXR agonists.

To Develop Biomarkers for Diabetic Nephropathy Based on Genes Related to Fibrosis and Propionate Metabolism and Their Functional Validation.

Propionate metabolism is important in the development of diabetes, and fibrosis plays an important role in diabetic nephropathy (DN). However, there are no studies on biomarkers related to fibrosis and propionate metabolism in DN. Hence, the current research is aimed at evaluating biomarkers associated with fibrosis and propionate metabolism and to explore their effect on DN progression.

Investigations of associations between TNF-α promoter polymorphisms and genetic susceptibility to type 2 diabetes mellitus: A cross-sectional study in Chinese Han population.

Type 2 diabetes (T2DM) is characterised by insulin resistance and a relative shortage of insulin secretion. Tumour necrosis factor-α (TNF-α) plays an important role in insulin resistance by impairing insulin signal transduction. The variants of the TNF-α promoter region are considered to influence its transcription and are associated with the TNF-α level.

The prevalence and risk factors associated with hypertension subtypes among ethnic Dai adults in rural China.

This study was conducted from June to September 2020 and conducted a population-based study of 2149 rural Dai residents aged 50 years or above in Xishuangbanna. The definition of hypertension was a systolic blood pressure ≥140 mmHg and/or a diastolic blood pressure ≥90 mmHg, or a current treatment plan with an antihypertensive medication. High blood pressure (HBP) included the following subtypes: SDH, ISH and IDH.

Pulmonary Embolism Risk Assessment in Acute Isolated Distal Deep Venous Thrombosis.

The clinical risk factors and risk of developing pulmonary embolism (PE) in patients with acute isolated distal deep venous thrombosis (IDDVT) were assessed using single complete-duplex ultrasound (CDUS) imaging to reduce over-testing and over-treatment. This observational study was conducted from January 2020 to December 2022. Retrospective analysis was performed on CT pulmonary angiography (CTPA), blood coagulation markers, myocardial injury markers, blood gas analysis, and CDUS imaging of the lower extremity blood vessels of 146 patients with newly diagnosed IDDVT.

[Research progress on the correlation between intestinal microecology and sepsis].

Sepsis is a life-threatening organ dysfunction caused by a dysregulated host response to infection, with increasing mortality as septic shock and organ failure progress. Mechanisms such as vascular endothelial dysfunction, microcirculatory disorders, coagulation abnormalities, immune suppression, mitochondrial damage, cell pyroptosis, ferroptosis, endoplasmic reticulum stress, and autophagy play crucial roles in organ dysfunction and death caused by sepsis. Concurrently, the imbalance of the gut microbiota also plays an undeniable role in the development of sepsis, with recent studies demonstrating a close connection between the gut microbiome and sepsis.

Research progress on the regulatory mechanism of cell senescence in arsenic toxicity: a systematic review.

As an element with metalloid properties, arsenic is pervasively present in the environment and is recognized as a potent carcinogen. Consequently, the issue of human arsenic exposure has become a significant concern within the global public health sector. Numerous studies have indicated that arsenic induces cellular senescence through various mechanisms, including triggering epigenetic alterations, inducing the senescence-associated secretory phenotype (SASP), promoting telomere shortening, and causing mitochondrial dysfunction.

Caveolin-1 protects retinal ganglion cells in glaucoma by reducing TLR4 and activating the Akt/PTEN signaling pathway.

Glaucoma is a degenerative disease characterized by retinal ganglion cell (RGC) death and visual impairment caused by elevated intraocular pressure (IOP). Elevated IOP can activate microglia, which participate in ganglion cell injury. Based on the study of caveolin-1 (Cav-1) in glaucoma, we aimed to explore the effect and mechanism of Cav-1 on RGC apoptosis in mice with acute ocular hypertension (AOH).

Combined maternal KIR2DL4 and fetal HLA-G polymorphisms were associated with preeclampsia in a Han Chinese population.

Preeclampsia is the main cause of maternal and infant mortality and morbidity during pregnancy. Killer cell immunoglobulin-like receptor 2DL4 (KIR2DL4) and human leukocyte antigen G (HLA-G) play crucial roles in immune tolerance at the maternal-fetal interface. In this case‒control study, 154 maternal-fetal pairs were recruited, including 74 pairs with preeclampsia (56 of 74 pairs from family triads) and 80 pairs with a normal pregnancy (78 of 80 pairs from family triads).

SHP-1 mediates cigarette smoke extract-induced epithelial-mesenchymal transformation and inflammation in 16HBE cells.

Src-homology region 2 domain-containing phosphatase 1 (SHP-1) is considered an anti-inflammatory factor, but its role in chronic obstructive pulmonary disease (COPD) remains unknown. Herein, overexpression of SHP-1 was utilized to explore the functions of SHP-1 in COPD models established by stimulating 16HBE cells with cigarette smoke extracts (CSE) . SHP-1 was downregulated in both COPD patients and CES-treated 16HBE cells.

Nomogram for predicting outcomes in elderly women with mucinous breast cancer: A retrospective study combined with external validation in southwest China.

Objective: Mucinous breast cancer (MBC) is a kind of breast cancer (BC), which is rare in clinic, mainly for women, because of the low incidence rate, so there is no unified standard treatment protocol. Elderly patients have a poor prognosis due to their combined comorbidities. This study aims to investigate the effect of surgery and chemoradiotherapy on the prognosis of elderly female MBC patients and construct nomograms for predicting the OS and CSS in elderly female MBC patients.

Relationship between atherosclerotic burden and depressive symptoms in hypertensive patients: A cross-sectional study based on the NHANES database.

Objective: The relationship between atherosclerotic burden, depressive symptoms, and clinically relevant depression (CRD) in hypertensive patients is unclear. In this study, we used the atherosclerotic index of plasma (AIP) to quantify atherosclerotic burden and explore its association with depressive symptoms and CRD in hypertensive patients.

Methods: Hypertension-diagnosed patients were extracted from the National Health and Nutrition Examination Survey (NHANES) database.

Diazepam inhibits LPS-induced pyroptosis and inflammation and alleviates pulmonary fibrosis in mice by regulating the let-7a-5p/MYD88 axis.

Background And Objective: Pulmonary fibrosis caused by lung injury is accompanied by varying degrees of inflammation, and diazepam can reduce the levels of inflammatory factors. Therefore, the purpose of this study was to determine whether diazepam can inhibit inflammation and ameliorate pulmonary fibrosis by regulating the let-7a-5p/myeloid differentiation factor 88 (MYD88) axis.

Methods: Lipopolysaccharide (LPS) was used to induce cell pyroptosis in an animal model of pulmonary fibrosis.

Reduced Health-Related Quality of Life Due to Mobile Phone Dependence in a Sample of Chinese College Students: The Mediating Role of Chronotype and Sleep Quality.

Purpose: Presenting a chain mediation model to investigate whether mobile phone dependence results in a reduction in health-related quality of life (HRQoL) among Chinese college students, through the mediating effect of chronotype and sleep quality.

Design And Setting: A cross-sectional survey was conducted on students from a Chinese university using a validated structured questionnaire.

Sample: 2014 freshmen.

Wearable laser Doppler flowmetry for non-invasive assessment of diabetic foot microcirculation: methodological considerations and clinical implications.

Significance: Type 2 diabetes mellitus (T2DM) is a global health concern with significant implications for vascular health. The current evaluation methods cannot achieve effective, portable, and quantitative evaluation of foot microcirculation.

Aim: We aim to use a wearable device laser Doppler flowmetry (LDF) to evaluate the foot microcirculation of T2DM patients at rest.