One hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying them.

Leukopoiesis is lethally arrested in mice lacking the master transcriptional regulator PU.1. Depending on the animal model, subtotal PU.

Chromosome-scale genome dynamics reveal signatures of independent haplotype evolution in the ancient asexual mite .

Some unique asexual species persist over time and contradict the consensus that sex is a prerequisite for long-term evolutionary survival. How they escape the dead-end fate remains enigmatic. Here, we generated a haplotype-resolved genome assembly on the basis of a single individual and collected genomic data from worldwide populations of the parthenogenetic diploid oribatid mite to identify signatures of persistence without sex.

Estimating the prevalence of adults at risk for advanced hepatic fibrosis using FIB-4 in a Swiss tertiary care hospital.

Background & Aims: Chronic liver diseases pose a serious public health issue. Identifying patients at risk for advanced liver fibrosis is crucial for early intervention. The Fibrosis-4 score (FIB-4), a simple non-invasive test, classifies patients into three risk groups for advanced fibrosis.

Lifetime age-related changes in clinical laboratory results, aging clocks and mortality predictors in 2412 Golden Retrievers.

In this study, we investigated age-related changes in clinical laboratory data and their association with mortality in dogs from the Golden Retriever Lifetime Study. By analyzing complete blood count (CBC) and biochemistry data from 2'412 Golden Retrievers over 16,678 visits, we observed significant changes during the first 2 years of life and throughout aging. Based on these observations, we developed a biological aging clock using a LASSO model to predict age based on blood markers, achieving an accuracy of R = 0.

Disco-Interacting Protein 2 Homolog B CGG Repeat Expansion in Siblings with Neurodevelopmental Disability and Progressive Movement Disorder.

Background: Trinucleotide repeat expansions are an emerging class of genetic variants associated with various movement disorders. Unbiased genome-wide analyses can reveal novel genotype-phenotype associations and provide a diagnosis for patients and families.

Objective: The aim was to identify the genetic cause of a severe progressive movement disorder phenotype in 2 affected brothers.

Comprehensive evaluation of lifespan-extending molecules in C. elegans.

The nematode C. elegans has long served as a gold-standard model organism in aging research, particularly since the discovery of long-lived mutants in conserved aging pathways including daf-2 (IGF1) and age-1 (PI3K). Its short lifespan and small size make it highly suitable for high-throughput experiments.

Operando Nanoscale Characterization Reveals Fe Doping of Ni Oxide Enhances Oxygen Evolution Reaction via Fragmentation and Formation of Dual Active Sites.

Efficient catalytic water splitting demands advanced catalysts to improve the slow kinetics of the oxygen evolution reaction (OER). Earth-abundant transition metal oxides show promising OER activity in alkaline media. However, most experimental information available is either from post-mortem studies or in-situ space-averaged X-ray techniques in the micrometer range.

A Randomized, Placebo-Controlled, Single-Center, Crossover Study to Evaluate the Effects of Pre-Meal Whey Protein Microgel on Post-Prandial Glucometabolic and Amino Acid Response in People with Type 2 Diabetes and Overweight or Obesity.

: Whey protein (WP) consumption prior to a meal curbs appetite and reduces postprandial glucose (PPG) through stimulating endogenous GLP-1 secretion and insulin. : We assessed the metabolic effects of a concentrated WP, using a new micelle-technology (WPM), in people with type 2 diabetes (T2D) and overweight or obesity (NCT04639726). In a randomized-crossover design, participants performed two 240 min lunch meal (622 kcal) tests 7 ± 4 days apart.

Computed Tomography Angiography in the Catheterization Laboratory: A Guide Towards Optimizing Coronary Interventions.

Cardiac computed tomography (CT) has become an essential tool in the pre-procedural planning and optimization of coronary interventions. Its non-invasive nature allows for the detailed visualization of coronary anatomy, including plaque burden, vessel morphology, and the presence of stenosis, aiding in precise decision making for revascularization strategies. Clinicians can assess not only the extent of coronary artery disease but also the functional significance of lesions using techniques like fractional flow reserve (FFR-CT).

Novel Real-Time Fluoroscopic Assessment Method of Transcatheter Heart Valve Expansion Following Balloon-Expandable TAVR.

Background: Transcatheter heart valve (THV) underexpansion after transcatheter aortic valve replacement may be associated with worse outcomes. THV expansion can be assessed fluoroscopically using a pigtail for calibration; however, the accuracy of this technique specific to transcatheter aortic valve replacement is unknown. We assessed the accuracy and reproducibility of a novel fluoroscopic method to assess THV expansion using the THV commissural post for calibration.

The association of perirenal adipose tissue accumulation with left ventricular hypertrophy and the mediating role of insulin resistance: a cross-sectional study involving 1112 individuals with type 2 diabetes mellitus.

Objective: Recent studies have underscored the metabolic and cardiovascular regulatory capacity of perirenal adipose tissue (PAT), implicating its potential involvement in the pathogenesis of left ventricular hypertrophy (LVH). This investigation aims to assess the relationship between increased PAT mass and LVH, while also examining the potential mediating role of insulin resistance in this relationship among individuals with type 2 diabetes mellitus (T2DM).

Method: 1112 individuals with T2DM were prospectively recruited for this study.

Antioxidant therapy for infertile couples: a comprehensive review of the current status and consideration of future prospects.

Oxidative stress (OS) is established as a key factor in the etiology of both male and female infertility, arising from an imbalance between reactive oxygen species (ROS) production and the endogenous antioxidant (AOX) defenses. In men, OS adversely affects sperm function by inducing DNA damage, reducing motility, significantly impairing sperm vitality through plasma membrane peroxidation and loss of membrane integrity, and ultimately compromising overall sperm quality. In women, OS is implicated in various reproductive disorders, including polycystic ovary syndrome, endometriosis, and premature ovarian failure, leading to diminished oocyte quality, disrupted folliculogenesis, and poorer reproductive outcomes.

Exploring the role of metabolic pathways in TNBC immunotherapy: insights from single-cell and spatial transcriptomics.

The article provides an overview of the current understanding of the interplay between metabolic pathways and immune function in the context of triple-negative breast cancer (TNBC). It highlights recent advancements in single-cell and spatial transcriptomics technologies, which have revolutionized the analysis of tumor heterogeneity and the immune microenvironment in TNBC. The review emphasizes the crucial role of metabolic reprogramming in modulating immune cell function, discussing how specific metabolic pathways, such as glycolysis, lipid metabolism, and amino acid metabolism, can directly impact the activity and phenotypes of various immune cell populations within the TNBC tumor microenvironment.

The effect of renal function on the clinical outcomes and management of patients hospitalized with hyperglycemic crises.

Background: The global prevalence of diabetes has been rising rapidly in recent years, leading to an increase in patients experiencing hyperglycemic crises like diabetic ketoacidosis (DKA) and hyperosmolar hyperglycemic state (HHS). Patients with impaired renal function experience a delay in insulin clearance, complicating the adjustment of insulin dosing and elevating hypoglycemia risk. Accordingly, this study aims to evaluate the impact of renal function on the safety and efficacy of insulin use in patients with isolated DKA or combined DKA/HHS.

The relationship between cardiometabolic Index and diabetic kidney disease in people with diabetes.

Introduction: Studies have shown a strong correlation between the cardiometabolic index (CMI) and health issues such as diabetes, atherosclerosis, and decreased renal function. Nevertheless, the correlation between CMI and diabetic kidney disease (DKD) remains ambiguous. The objective of this study is to evaluate the correlation between CMI and DKD in patients with diabetes in the United States.

Impact of the initiation of isCGM soon after type 1 diabetes mellitus diagnosis in adults on glycemic indices and fear of hypoglycemia: a randomized controlled trial.

Background: Continuous glucose monitoring (CGM) improves glycemic control and quality of life. Data on glycemic indices and fear of hypoglycemia (FoH) in newly diagnosed T1DM patients are limited.

Aim: To assess the impact of initiating intermittently scanned CGM (isCGM) within 1-6 months of diagnosis on glycemic control and FoH in adults with T1DM.

Inter-organ metabolic interaction networks in non-alcoholic fatty liver disease.

Non-alcoholic fatty liver disease (NAFLD) is a multisystem metabolic disorder, marked by abnormal lipid accumulation and intricate inter-organ interactions, which contribute to systemic metabolic imbalances. NAFLD may progress through several stages, including simple steatosis (NAFL), non-alcoholic steatohepatitis (NASH), cirrhosis, and potentially liver cancer. This disease is closely associated with metabolic disorders driven by overnutrition, with key pathological processes including lipid dysregulation, impaired lipid autophagy, mitochondrial dysfunction, endoplasmic reticulum (ER) stress, and local inflammation.

Low skeletal muscle mass as a proxy marker of sarcopenia is a risk factor for major complications in older patients undergoing curative colon resections for colon cancer.

Introduction: Various reports have confirmed that low skeletal muscle mass, a proxy marker of sarcopenia, can be a risk factor for surgical and oncological outcomes in colon cancer. We aimed to investigate the effects of skeletal muscle mass index (SMMI) on postoperative complications, overall survival (OS), and disease-free survival (DFS) in older patients with colon cancer who underwent elective curative colon resections.

Materials And Methods: Patients over 65 years old with stage I-III colon cancer who underwent elective curative colon resections between January 2015 and December 2023 were included in this single-center retrospective longitudinal study.

Opsoclonus-myoclonus syndrome in the course of teratoma: a case report.

Opsoclonus-myoclonus syndrome (OMS) is a rare neurological inflammatory disease of paraneoplastic, parainfectious or idiopathic origin. It is manifested by the occurrence of opsoclonus, myoclonus, ataxia, as well as behavioral and sleep disorders. The incidence is estimated at 1/5,000,000 people.

Demographic features, clinical characteristics, and comorbid relation in hidradenitis suppurativa: a population-based study.

Background/objective: Hidradenitis suppurativa (HS) is a chronic inflammatory disease affecting apocrine gland areas, characterized by painful nodules and abscesses that may result in sinus tracts and scarring. The global prevalence of HS is increasing due to heightened awareness, improved diagnostic methods, rising obesity rates, and higher smoking prevalence. This study aimed to describe the epidemiological, clinical, and comorbid characteristics of HS patients.

Predictive factors for clinical cure in the treatment of HBeAg(-) chronic hepatitis B or compensated cirrhosis: a prospective observational study.

Background: Sequential or combined treatment with nucleos(t)ide analogs (NAs) and pegylated interferon alpha-2b (Peg-IFN--2b) can improve the clinical cure rate. However, its clinical application is limited due to the adverse reactions associated with IFN.

Methods: A multi-center prospective observational study was conducted involving 59 NAs-treated chronic hepatitis B (CHB) patients who were treated with a combination therapy of NAs and Peg-IFN--2b for 48 weeks.

Evolutionary patterns and research frontiers in autophagy in podocytopathies: a bibliometric analysis.

Introduction: Podocytopathies are a uniquely renal disease syndrome, in which direct or indirect podocyte injury leads to proteinuria or nephrotic syndrome. Of the many factors that contribute to podocytopathies, the abnormal regulation of autophagy, such insufficient or excessive autophagy levels, have been proposed to play a significant role in the occurrence and development of podocytopathies. However, there still has been a lack of systematic and comparative research to elucidate exact role of autophagy in podocytopathies and its current research status.

Effectiveness of the application of a digitalized repository on the quality of graduate and post-graduate education in the field of physical medicine and rehabilitation.

Background: During last ten years, we have developed a digital library with educational materials in Physical medicine and rehabilitation.

Objectives: The objective of current article is the preparation of an electronic library with educational materials in the area of physical medicine, physical therapy and rehabilitation, and the comparative evaluation of the impact of this repository on the quality of education of students and trainees in the field.

Methodology: The electronic library includes e-books on different topics, elements of the specialty "Physical and rehabilitation medicine (PRM)" or Physiatry - with theoretical data, practical issues and case reports with videos of real patients.