Adipose tissue eQTL meta-analysis highlights the contribution of allelic heterogeneity to gene expression regulation and cardiometabolic traits.

Complete characterization of the genetic effects on gene expression is needed to elucidate tissue biology and the etiology of complex traits. In the present study, we analyzed 2,344 subcutaneous adipose tissue samples and identified 34,774 conditionally distinct expression quantitative trait locus (eQTL) signals at 18,476 genes. Over half of eQTL genes exhibited at least two eQTL signals.

Novel homozygous SPAG17 variants cause human male infertility through multiple morphological abnormalities of spermatozoal flagella related to axonemal microtubule doublets.

Male infertility can result from impaired sperm motility caused by multiple morphological abnormalities of the flagella (MMAF). Distinct projections encircling the central microtubules of the spermatozoal axoneme play pivotal roles in flagellar bending and spermatozoal movement. Mammalian sperm-associated antigen 17 (SPAG17) encodes a conserved axonemal protein of cilia and flagella, forming part of the C1a projection of the central apparatus, with functions related to ciliary/flagellar motility, skeletal growth, and male fertility.

Cardiac transplantation with increased-risk donors: Trends and clinical outcomes.

Background: Orthotopic Heart transplantation (OHT) is a definitive treatment for patients with advanced heart failure. Despite available evidence, recipients and some clinicians remain hesitant to accept organs from Increased Risk Donors (IRD). This study aims to report trends in acceptance of donors from IRD donors and long-term outcomes.

A novel homozygous splicing mutation in AK7 causes multiple morphological abnormalities of sperm flagella in patients from consanguineous Pakistani families.

Multiple morphological abnormalities of the flagella (MMAF) represent a severe form of sperm defects leading to asthenozoospermia and male infertility. In this study, we identified a novel homozygous splicing mutation (c.871-4 ACA>A) in the adenylate kinase 7 (AK7) gene by whole-exome sequencing in infertile individuals.

Synthesis and Investigation of Mechanical Properties of the Acrylonitrile Butadiene Styrene Fiber Composites Using Fused Deposition Modeling.

Additive manufacturing is becoming a global phenomenon due to its versatile properties and numerous benefits, which is not possible by conventional machining processes. Fused deposition modeling (FDM) shows a huge potential of shift from rapid prototyping toward the rapid manufacturing. Nowadays, the strength of the FDM-printed parts is very important to consider along with all the printing parameters, which affect the strength of these parts.

Intravenous Diuresis in Severe Precapillary Pulmonary-Hypertension-Related Right Heart Failure: Effects on Renal Function and Blood Pressure.

In patients with right heart failure (RHF) and pulmonary hypertension (PH), classical teaching often advises cautious diuresis in the setting of 'preload dependence' to avoid renal injury and hemodynamic compromise. However, while this physiology may hold true in some clinical settings, such as acute ischemia with right ventricular infarction, it cannot necessarily be extended to PH-related RHF. Rather, in patients with precapillary PH and decompensated RHF, diuresis aimed to decongest the right heart and systemic venous system may be directly beneficial.

Embryonic Exposure to the Benzotriazole Ultraviolet Stabilizer 2-(2H-benzotriazol-2-yl)-4-methylphenol Decreases Fertility of Adult Zebrafish (Danio rerio).

Benzotriazole ultraviolet stabilizers (BUVSs) are emerging contaminants of concern. They are added to a variety of products, including building materials, personal care products, paints, and plastics, to prevent degradation caused by ultraviolet (UV) light. Despite widespread occurrence in aquatic environments, little is known regarding the effects of BUVSs on aquatic organisms.

Adipose tissue eQTL meta-analysis reveals the contribution of allelic heterogeneity to gene expression regulation and cardiometabolic traits.

Complete characterization of the genetic effects on gene expression is needed to elucidate tissue biology and the etiology of complex traits. Here, we analyzed 2,344 subcutaneous adipose tissue samples and identified 34K conditionally distinct expression quantitative trait locus (eQTL) signals in 18K genes. Over half of eQTL genes exhibited at least two eQTL signals.

Impairment of oocyte maturation as a mechanism of decreased fecundity in Japanese medaka (Oryzias latipes) exposed to the brominated flame retardant, 1,2,5,6-tetrabromocyclooctane (TBCO).

Inhibition of oocyte maturation is an understudied mechanism by which chemical stressors can impair fecundity of female fishes. The primary objective of the present study was to develop an assay to assess oocyte maturation disruption by chemical stressors in Japanese medaka (Oryzias latipes). First, an in vitro assay to assess maturation inducing hormone (MIH)-stimulated oocyte maturation in zebrafish was validated for use with Japanese medaka.

The Effect of Sodium-Glucose Co-Transporter 2 Inhibitors on Stroke and Atrial Fibrillation: A Systematic Review and Meta-Analysis.

The effect of Sodium-glucose cotransporter-2 (SGLT2) inhibitors on the occurrence of AF and stroke remains unclear due to underpowered individual studies. We aim to conduct a meta-analysis including all studies that have evaluated the effects of SGLT2 inhibitors on the occurrence of AF and stroke. We queried electronic databases (PubMed, Cochrane CENTRAL and ClinicalTrials.

The brominated flame retardant, 1,2,5,6-tetrabromocyclooctane (TBCO), causes multigenerational effects on reproductive capacity of Japanese medaka (Oryzias latipes).

Exposure of fishes to endocrine disrupting chemicals (EDCs) during early development can induce multigenerational and transgenerational effects on reproduction. Both in vivo and in vitro studies have demonstrated that the brominated flame retardant, 1,2,5,6-tetrabromocyclooctane (TBCO), is an EDC. The present study investigated whether TBCO has mutigenerational and/or transgenerational effects on the reproductive performance of Japanese medaka (Oryzias latipes).

PPI-Induced Changes in Plasma Metabolite Levels Influence Total Hip Bone Mineral Density in a UK Cohort.

Proton pump inhibitors (PPIs) are among the most used drugs in the UK. PPI use has been associated with decreased bone mineral density (BMD) and increased fracture risk, although these results have been inconsistent. We hypothesized that PPI could modulate BMD by altering gut and/or host systemic metabolic environments.

Advancements on the Multifaceted Roles of Sphingolipids in Hematological Malignancies.

Dysregulation of sphingolipid metabolism plays a complex role in hematological malignancies, beginning with the first historical link between sphingolipids and apoptosis discovered in HL-60 leukemic cells. Numerous manuscripts have reviewed the field including the early discoveries that jumpstarted the studies. Many studies discussed here support a role for sphingolipids, such as ceramide, in combinatorial therapeutic regimens to enhance anti-leukemic effects and reduce resistance to standard therapies.

Subgenomic sequence analysis reveals emergence of new circulating recombinant forms of HIV-1 in Pakistan.

Background And Objective: Pakistan has witnessed a dramatic change in the increasing prevalence and emergence of HIV subtypes for more than two decades. Pakistani population is increasingly engaged in high-risk practices, and the prescribed drugs are potentially causing resistance. There are chances that these resistant strains are beginning to circulate from high-risk to the general population.

Alkylation of Benz[a]anthracene Affects Toxicity to Early-Life Stage Zebrafish and In Vitro Aryl Hydrocarbon Receptor 2 Transactivation in a Position-Dependent Manner.

Polycyclic aromatic hydrocarbons (PAHs) are structurally diverse organic chemicals that can have adverse effects on the health of fishes through activation of aryl hydrocarbon receptor 2 (AhR2). They are ubiquitous in the environment, but alkyl PAHs are more abundant in some environmental matrices. However, relatively little is known regarding the effects of alkylation on the toxicity of PAHs to fishes in vivo and how this relates to potency for activation of AhR2 in vitro.

Inhibition of Oocyte Maturation by Malathion and Structurally Related Chemicals in Zebrafish (Danio rerio) After In Vitro and In Vivo Exposure.

Oogenesis is the process by which a primary oocyte develops into a fertilizable oocyte, making it critical to successful reproduction in fish. In zebrafish (Danio rerio), there are five stages of oogenesis. During the final step (oocyte maturation), the maturation-inducing hormone 17α,20β-dihydroxy-4-pregnen-3-one (MIH) activates the membrane progestin receptor, inducing germinal vesicle breakdown.

Sphingolipids in Hematopoiesis: Exploring Their Role in Lineage Commitment.

Sphingolipids, associated enzymes, and the sphingolipid pathway are implicated in complex, multifaceted roles impacting several cell functions, such as cellular homeostasis, apoptosis, cell differentiation, and more through intrinsic and autocrine/paracrine mechanisms. Given this broad range of functions, it comes as no surprise that a large body of evidence points to important functions of sphingolipids in hematopoiesis. As the understanding of the processes that regulate hematopoiesis and of the specific characteristics that define each type of hematopoietic cells is being continuously refined, the understanding of the roles of sphingolipid metabolism in hematopoietic lineage commitment is also evolving.

History of cigarette smoking and heart transplant outcomes.

Active cigarette smoking (CS) is a contraindication for Orthotopic Heart Transplantation (OHT) with a recommendation that HT candidates be free from CS for at minimum 6 months prior to HT. Animal studies have shown that a history of CS is associated with increased risk of allograft rejection, but few studies have examined the association of past CS and HT outcomes. Data were analyzed from HT recipients captured in the United Network for Organ Sharing (UNOS) transplant registry.

Determination of antimicrobial effect of protamine by transmission electron microscopy and SDS PAGE on isolates from diabetic foot infection.

Objectives: Diabetic foot infection is one of the major complications of diabetes leading to lower limb amputations. Isolation and identification of bacteria causing diabetic foot infection, determination of antibiotic resistance, antimicrobial potential of protamine by electron microscopy and SDS-PAGE analysis, arethe aims of this study.

Materials And Methods: 285 pus samples from diabetic foot infection patients were collected from different hospitals of Karachi and Capital Health Hospital, Halifax, Canada.

Helicobacter pylori severely reduces expression of DNA repair proteins PMS2 and ERCC1 in gastritis and gastric cancer.

Gastric cancers are the third leading cause of cancer mortality in the world. Helicobacter pylori causes over 60 % of all stomach cancers. Colonization of the gastric mucosa by H.