Mutational landscape of triple-negative breast cancer in African American women.

African American (AA) women have the highest incidence of triple-negative breast cancer (TNBC) among all racial groups, but are underrepresented in cancer genomic studies. In 462 AA women with TNBC, we characterized the tumor mutational landscape by whole-exome sequencing and RNA sequencing. We unveiled a high-resolution mutational portrait of TNBC in AA women reminiscent of that in Asian and non-Hispanic white women, with no evidence of associations of mutational features with African ancestry.

Urate-lowering effects of polyphenolic compounds in animal models: systematic review and meta-analysis.

Background: Recent research underscores the critical role of uric acid (UA) in the pathogenesis and progression of various diseases. However, the effects of polyphenolic compounds on uric acid levels remain poorly defined.

Objective: This review aims to assess the impact of five specific polyphenolic compounds on uric acid levels in animal models.

Identification and Validation of Calcium-Related Diagnostic Markers for Acute Myocardial Infarction via Bioinformatics Analysis and Machine Learning.

The incidence of acute myocardial infarction (AMI) is increasing, and existing diagnostic techniques exhibit limited capacity for early AMI diagnosis. Given the robust association between Ca levels and the AMI initiation, calcium-related genes represent promising biomarkers for the early diagnosis of AMI.The expression data of patients with AMI and normal samples were obtained from the gene expression omnibus database.

Integrative bioinformatics analysis and experimental validation reveals key genes and regulatory mechanisms in the development of gout.

Background And Aims: Gout is a prevalent inflammatory arthropathy caused by monosodium urate crystal deposition, yet its molecular pathogenesis remains incompletely understood. This study aimed to identify key genes and elucidate regulatory mechanisms underlying gout development through bioinformatics analysis combined with experimental validation.

Methods: Transcriptome dataset GSE160170 and single-cell dataset GSE211783 were analyzed using differential expression analysis and weighted gene co-expression network analysis (WGCNA).

Molecular epidemiology and hematological thresholds for αβ-thalassemia: a retrospective cohort study in the Huizhou region of southern China.

Objectives: To investigate the prevalence, hematological characteristics and optimal cutoff values for mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) in carriers with combined α- and β-thalassemia (αβ-thalassemia) in the Huizhou region of southern China.

Methods: The epidemiological investigation, including prevalence assessment and genotype distribution analysis of αβ-thalassemia, was conducted in a cohort of 14,146 participants (Prevalence cohort). Furthermore, a comprehensive comparative analysis of hematological parameters was performed among 13,888 individuals grouped by genotype (Phenotype cohort).

Associations of DNA methylation in breast tumour subtypes with parity and breastfeeding in a cohort of 1459 Black women: implications for public health.

Objective: Having children reduces risk of breast cancer overall, but parity without breastfeeding, more prevalent among black women, increases risk of poor-prognosis oestrogen receptor negative (ER-) breast cancer. We investigated if relationships between parity, breastfeeding and ER subtypes result from epigenetic programming, potentially steering breast progenitor cells to a basal-like phenotype.

Methods And Analysis: The Illumina MethylationEPIC platform was used to assess genome-wide methylation in formalin-fixed, paraffin-embedded tumours from 1459 Black women with breast cancer.

Case Report: A prenatal case with sex discordance between non-invasive prenatal testing and fetal genetic testings due to maternal rare chromosome karyotype.

Background: Non-invasive prenatal testing (NIPT), which made use of cell-free DNA (cffDNA) in maternal blood, was currently being applied all over the world for the detection of common chromosome abnormalities. It had relatively high sensitivity and specificity. Nevertheless, studies demonstrated that false positive results happened in 0.

[Analysis of hematological characteristics of patients with three common deletional β-thalassemias and concomitant α-thalassemia in Huizhou, Guangdong province].

Objective: To analyze the hematological characteristics of patients with three common deletional β-thalassemia and concomitant α-thalassemia in Huizhou, Guangdong province.

Methods: A total of 1 335 subjects of childbearing age with hemoglobin F (Hb F) ≥ 5% at the Huizhou First Maternal and Child Health Care Hospital between June 2014 and December 2023 were enrolled as our study cohort. The hematological parameters were determined by blood cell counters and automatic capillary electrophoresis, while liquid phase chip and gap-PCR were employed for the detection of routine thalassemias and the three common deletional β-thalassemia, respectively.

Endoplasmic Reticulum-Targeted Phototherapy Remodels the Tumor Immunopeptidome to Enhance Immunogenic Cell Death and Adaptive Anti-Tumor Immunity.

Endoplasmic reticulum (ER)-targeted phototherapy has emerged as a promising approach to amplify ER stress, induce immunogenic cell death (ICD), and enhance anti-tumor immunity. However, its impact on the antigenicity of dying tumor cells remains poorly understood. Laser activation of the ER-targeted photosensitizer ER-Cy-NO was performed to investigate its effects on tumor cell antigenicity.

Application value of long-read sequencing in full characterization of thalassemia-associated structural variations: identifying a novel large segmental duplication and literature review.

Background: Thalassemia is one of the most prevalent monogenic disorders in tropical and subtropical regions, imposing significant familial and social burdens on local populations. It is caused by point mutations or structural variations (SVs) in the α- or β-globin gene clusters. Due to the complex structure, full characterization of SVs has always been the focus and difficulty of molecular diagnosis of thalassemia patients.

Inflammatory Cell-Targeted Delivery Systems for Myocardial Infarction Treatment.

Myocardial infarction (MI) is a cardiovascular disease (CVD) with high morbidity and mortality worldwide, which is a serious threat to human life and health. Inflammatory and immune responses are initiated immediately after MI, and unbalanced inflammation post-MI can lead to cardiac dysfunction, scarring, and ventricular remodeling, emphasizing the critical need for an effective inflammation-regulating treatment. With the development of novel therapies, the drug delivery system specific to inflammatory cells offers significant potential.

ALG8-CDG: advances in molecular and prenatal phenotyping facilitate prenatal diagnosis and genetic counseling.

Background: ALG8-congenital disorder of glycosylation (ALG8-CDG) is a rare inherited metabolic disorder leading to severe multisystem manifestations, with no reported prenatal patients to date.

Methods: We describe two fetuses from a single family with ALG8-CDG presenting with prenatal hydrops, undergoing comprehensive prenatal ultrasound, umbilical cord blood biochemistry, autopsy, placental pathology, and genetic testing.

Results: Prenatal ultrasound revealed fetal hydrops, skeletal anomalies, cardiac developmental abnormalities, cataracts, echogenic kidneys and bowel, oligohydramnios, choroid plexus cysts, and intrauterine growth restriction.

Prevalence and Risk Factors of Stroke in Patients with Nonvalvular Atrial Fibrillation: A Case-Control Study.

Objective: To analyze the prevalence and influencing factors of stroke in patients with nonvalvular atrial fibrillation (SIPWNVAF), and to provide a reference basis for the prevention and control of stroke.

Methods: Data were obtained from the China National Stroke Screening Survey. From January 2016 to December 2023, a total of 15,471 permanent residents aged ≥40 years in Yinchuan were screened.

One-dimensional Branched PdAg Nanoalloy Rich in Defects for Boosting Glycerol and Ethanol Oxidation.

The development of Pd-based bimetallic nanoalloys (NAs) with abundant active sites for achieving highly efficient electrocatalysis in alcohol oxidation deserves continuous attention. Herein, we utilized a facile visible-light-assisted liquid-phase method involving adjusting reaction time to generate active sites, successfully synthesizing one-dimensional (1D) PdAg NAs rich in defects. The optimized 1D PdAg NA exhibits remarkable electrochemical activity, stability, and antipoisonous properties in glycerol oxidation reaction (GOR) and ethanol oxidation reaction (EOR), far exceeding pure Pd and commercial Pd/C catalysts.

Biologically targeted discovery-replication scan identifies G×G interaction in relation to risk of Barrett's esophagus and esophageal adenocarcinoma.

Inherited genetics represents an important contributor to risk of esophageal adenocarcinoma (EAC), and its precursor Barrett's esophagus (BE). Genome-wide association studies have identified ∼30 susceptibility variants for BE/EAC, yet genetic interactions remain unexamined. To address challenges in large-scale G×G scans, we combined knowledge-guided filtering and machine learning approaches, focusing on genes with (1) known/plausible links to BE/EAC pathogenesis (n = 493) or (2) prior evidence of biological interactions (n = 4,196).

A novel case of Hb Bart's hydrops fetalis following prenatal diagnosis: Case report from Huizhou, China.

Objective: Presentation of a novel case of a patient with Hb Bart's hydrops fetalis, which was accurately identified by SMRT sequencing leading to expand the mutation spectrum of α-thalassemia.

Case Report: A 26-year-old pregnant woman and her husband underwent molecular analysis of thalassemia due to abnormal hematological results. The molecular analysis showed that the pregnant woman carried -α/--, while her husband exhibited a negative result.

Identification of a Major QTL for Seed Protein Content in Cultivated Peanut ( L.) Using QTL-Seq.

Peanut ( L.) is a great plant protein source for human diet since it has high protein content in the kernel. Therefore, seed protein content (SPC) is considered a major agronomic and quality trait in peanut breeding.

A novel multi-channel applicator with a U-shaped channel for vaginal intracavity brachytherapy.

Background: Endometrial cancer is one of the most common gynecological malignancies in the world. Vaginal brachytherapy is an important postoperative adjuvant treatment for endometrial cancer. However, a common problem with existing applicators is insufficient dose at the vaginal apex.

Terminalia bellirica (Gaertn.) Roxb. Extracts reshape the perifollicular microenvironment and regulate the MAPK pathway for androgenetic alopecia treatment.

Ethnopharmacological Relevance: Terminalia bellirica (Gaertn.) Roxb. (TBR), a popular herbal remedy in India and Southeast Asia, has been demonstrated to possess multiple pharmacological activities.

Divergence and convergence: a cross-generational study on local food consumption.

In the context of the expanding local food market, grasping the evolutionary trajectory of consumer purchasing behavior is crucial for understanding market dynamics. This study adopts a cross-generational perspective to delve into and elucidate the similarities and differences in local food consumption behaviors between Gen Z and Gen Y. Through the analysis of online survey data from 251 individuals of Gen Z and 319 of Gen Y and utilizing the Theory of Planned Behavior as a theoretical framework, and the study identifies eight key variables.

Case-Case Genome-Wide Analyses Identify Subtype-Informative Variants That Confer Risk for Breast Cancer.

Breast cancer includes several subtypes with distinct characteristic biological, pathologic, and clinical features. Elucidating subtype-specific genetic etiology could provide insights into the heterogeneity of breast cancer to facilitate the development of improved prevention and treatment approaches. In this study, we conducted pairwise case-case comparisons among five breast cancer subtypes by applying a case-case genome-wide association study (CC-GWAS) approach to summary statistics data of the Breast Cancer Association Consortium.

Attributional styles are associated with care burden in geriatric depression: older adults and their caregivers in Taiwan.

Background: Given the rising prevalence of depression among older adults and the associated increase in caregiving responsibilities, understanding factors influencing caregiver burden is crucial. Previous research has not extensively explored the impact of caregivers' attributional styles, that is, how individuals interpret the causes of life events, on their care burden.

Aim: This study examined the relationship between caregivers' attributional styles and their care burden for older patients with depression.

Effects of Heat-Treatment and Cold-Rolling on Mechanical Properties and Impact Failure Resistance of New Al 6082 Aluminum Alloy by Continuous Casting Direct Rolling Process.

Al 6082 aluminum alloy has excellent corrosion resistance, strength, and formability. However, owing to the recrystallization effect of a hot working process, coarse grains form easily in this material, which reduces its strength and service life. The novel continuous casting direct rolling (CCDR) method can prevent the deterioration of this material.

The effects of exercise programs on sleep architecture in obstructive sleep apnea: a meta-analysis of randomized controlled trials.

Objectives: Exercise is an effective intervention for obstructive sleep apnea (OSA). However, the effects of exercise on objective sleep architecture in patients with OSA remain unknown. This meta-analysis aimed to collect data from randomized controlled trials of exercise interventions in patients with OSA, with a specific focus on objective sleep parameters derived from polysomnography.