Current Status of Fetal Echocardiography Imaging and Fetal Counseling Fellow Training in 29 European Countries.

Limited data exist on the implementation of current fetal cardiology training and practice guidelines, how trainees are assessed, and how trained fetal cardiologists maintain their skills among countries affiliated with the Association of European Paediatric and Congenital Cardiology (AEPC). A structured questionnaire was sent to fetal cardiologists or national delegates from 44 centers in 33 European countries. Responses were obtained from 37 centers in 29 European countries with 31 responses from fetal cardiologists.

Control of Golgi- V-ATPase through Sac1-dependent co-regulation of PI(4)P and cholesterol.

Sac1 is a conserved phosphoinositide phosphatase, whose loss-of-function compromises cell and organism viability. Here, we employ acute auxin-inducible Sac1 degradation to identify its immediate downstream effectors in human cells. Most of Sac1 is degraded in ~1 h, paralleled by increased PI(4)P and decreased cholesterol in the trans-Golgi network (TGN) during the following hour, and superseded by Golgi fragmentation, impaired glycosylation, and selective degradation of TGN proteins by ~4 h.

Heme oxygenase-1 polymorphisms associate with ischemic cardiac complications and all-cause mortality in type 1 diabetes.

Background: Heme oxygenase 1 (HO-1), encoded by the HMOX1 gene is a highly inducible enzyme with multiple cardiovascular protective properties. Polymorphisms of the HMOX1 gene, especially a guanine-thymine dinucleotide repeat polymorphism (GTn), affects its transcriptional activity and is associated with cardiovascular complications in the general population. We studied the association of HMOX1 polymorphisms and HO-1 serum concentrations with vascular complications and all-cause mortality in individuals with type 1 diabetes (T1D).

Oral Microbiota Linking Humoral Response, Periodontitis and Atherosclerosis.

Aim: The humoral immune system is implicated in the link between periodontitis and atherosclerosis. This study aims to explore how interactions between the oral microbiota and humoral immune responses may contribute to this association.

Materials And Methods: We analysed data from the Northern Finland Birth Cohort 1966, which included 1560 participants who underwent comprehensive health and oral examinations.

Insights into the vascular aging burden in young adults with embolic stroke of undetermined source.

Introduction: This study investigates pre-atherosclerotic changes, vascular aging and clinical cardiovascular disease (CVD) risk scores in young adults with embolic stroke of undetermined source (ESUS) compared to stroke-free controls.

Methods: The study included 105 ESUS patients and 105 age- and sex-matched stroke-free controls aged 18 to 49 years. Clinical and laboratory characteristics and arterial stiffness measurements were recorded.

Association of aerobic fitness and body composition with protein and major lipid class composition of high-density lipoprotein.

Although high-density lipoprotein (HDL) has cardiometabolic protecting properties, interventions to raise HDL cholesterol concentration have failed to improve cardiometabolic health. Hence, HDL composition and functionality might be key factors in its anti-atherogenic capacity. Alterations in HDL composition have been linked to pathophysiological states, whereas endurance training is known to increase HDL concentration with a shift toward bigger particle sizes, but its effect on the HDL composition is not well understood.

Heterozygous Korat cats with LDL receptor mutation are asymptomatic and normolipidemic.

Human familial hypercholesterolemia (FH) is a genetic disease and the most potent risk factor for atherosclerosis, where both heterozygous and homozygous patients develop severe clinical disease. We have recently described in Korat cats a low-density lipoprotein receptor (LDLR) linked atherosclerosis in homozygous cats with severe alterations in cholesterol levels. Mutations in LDLR are the most common cause of FH in humans.

Protein Associations With Alcohol Consumption and Genetic Risk for Alcohol-Related Sociomedical Conditions.

Studies investigating proteomic associations with alcohol consumption and the genetic links of these proteins to alcohol-related traits are scarce. The aims of our study were (1) to identify proteins associated with alcohol consumption and (2) to investigate the molecular pathways and genetics linking the identified proteins to alcohol consumption and related sociomedical conditions. We generated proteomic and genotypic data from blood samples of 387 Finnish twins (age range: 56-70) and calculated polygenic risk scores (PRSs) of eight alcohol-related traits: obesity, alcohol dependence, number of drinks per week, number of cigarettes per day, major depressive disorders (MDDs), schizophrenia, externalising behaviour and educational attainment.

Tirzepatide for reduction of morbidity and mortality in adults with obesity: rationale and design of the SURMOUNT-MMO trial.

Objective: Obesity is a major cause of morbidity and mortality worldwide. Tirzepatide is a glucose-dependent insulinotropic polypeptide receptor and glucagon-like peptide-1 receptor agonist providing substantial weight reduction and metabolic benefits both in type 2 diabetes and obesity. We hypothesized that tirzepatide can improve morbidity and mortality in adults with obesity or overweight but without diabetes.

Lipids and lipoproteins in the interstitial tissue fluid regulate the formation of dysfunctional tissue-resident macrophages: Implications for atherogenic, tumorigenic, and obesogenic processes.

An inflammatory and lipid-enriched tissue microenvironment is a common characteristic of the extracellular niches of affected tissues in atherosclerosis, cancer, and obesity. These respective interstitial environments appear to be induced by infiltration of plasma lipids and early local recruitment of monocyte-derived macrophages. In the tissue niches, the macrophages display remarkable phenotypic and functional plasticity and exert multifaceted roles in tissue homeostasis.

Impact of different hypertensive disorders of pregnancy on cardiovascular disease risk and all-cause mortality in women with type 1 diabetes.

Objectives: Our aim was to assess how pre-eclampsia, gestational hypertension, and chronic (pre-pregnancy) hypertension, compared to no hypertensive disorders during pregnancy, impact development of cardiovascular disease and all-cause mortality in type 1 diabetes (T1D).

Methods: We included 190 T1D women with median age of 29.4 (interquartile range 26.

Cardiometabolic health 8-12 years after pre-eclampsia: Role of obesity and gestational diabetes (FINNCARE study).

Objective: This study examined the long-term cardiometabolic health in subgroups of pre-eclampsia (PE) to identify individuals who would benefit from targeted cardiovascular screening. Design and main outcome: A cross-sectional cohort. We compared cardiometabolic profile (anthropometrics, body composition, blood biomarkers, and blood pressure) among normotensive control pregnancies (n = 92), de novo PE (n = 156), de novo PE with gestational diabetes mellitus (GDM) (PE + GDM, n = 16), and PE superimposed on chronic hypertension (n = 18).

Genetic and environmental effects on weight gain from young adulthood to old age and its association with body mass index at early young adulthood: an individual-based pooled analysis of 16 twin cohorts.

Introduction: Genetic factors contribute to weight gain, but how these effects change over adulthood is still unknown. We studied the impact of genetics on BMI change from young adulthood to old age and its relationship with BMI in early young adulthood.

Data And Methods: Data from 16 longitudinal twin cohorts, including 111,370 adults (56% women) and 55,657 complete twin pairs (42% monozygotic), were pooled.

Pediatric heart transplantation within the Scandiatransplant region-a multinational observational study spanning 38 years.

Background: Thirty-eight years of pediatric heart transplantation (pHTx) within the Scandiatransplant organization were analyzed to describe volume trends, regional prevalence, underlying etiologies, and outcomes following listing and pHTx.

Methods: Children <18 years listed for pHTx from January 1st 1986 to December 31st 2023 were identified in the Scandiatransplant registry. The cohort was split into groups based on the era of listing (ERA I; 1986-1998, ERA II; 1999-2011, and ERA III; 2012-2023).

Extensive differential gene expression and regulation by sex in human skeletal muscle.

The identification of sex-differential gene regulatory elements is essential for understanding sex-differential patterns of health and disease. We leveraged bulk and single-nucleus RNA sequencing (RNA-seq) and single-nucleus ATAC-seq data from 281 skeletal muscle biopsies to characterize sex differences in gene expression and regulation at the cell-type and whole-tissue levels. We found highly concordant sex-biased expression of over 2,100 genes across the three muscle fiber types and bulk tissue.

A proteomic signature of healthspan.

The focus of aging research has shifted from increasing lifespan to enhancing healthspan to reduce the time spent living with disability. Despite significant efforts to develop biomarkers of aging, few studies have focused on biomarkers of healthspan. We developed a proteomics-based signature of healthspan [healthspan proteomic score (HPS)] using proteomic data from the Olink Explore 3072 assay in the UK Biobank Pharma Proteomics Project (53,018 individuals and 2,920 proteins).

Genome-wide interaction study with BMI identifies CYP7A1 and GIPR as genetic modulators of MASLD.

Background: Metabolic dysfunction-associated steatotic liver disease (MASLD) may progress to liver inflammation, fibrosis, cirrhosis and hepatocellular carcinoma. So far, genome-wide association studies explain a small fraction of MASLD heritability.

Objective: We sought to identify novel genetic determinants of MASLD by exploring interactions between genetic variants and body mass index (BMI).

Molecular landscape of sex- and modality-specific exercise adaptation in human skeletal muscle through large-scale multi-omics integration.

We investigated the molecular mechanisms of exercise adaptations in human muscle by integrating genome, methylome, transcriptome, and proteome data from over 1,000 participants (2,340 muscle samples). We identified distinctive signatures associated with maximal oxygen consumption (VO), and multi-omics integration uncovered five key genes as robust exercise markers across layers, with transcription factors functioning as activators, synergizing with DNA methylation to regulate gene expression. Minimal sex differences were observed, while modality-specific analysis highlighted distinct pathways for aerobic and resistance exercise, contrasting with muscle disuse patterns.

Tricaine, eugenol and etomidate for repetitive procedural anesthesia in adult zebrafish, : effect on stress and behavior.

Zebrafish has emerged as a popular animal model in biomedical research. Numerous procedures and interventions require occasionally repetitive anesthesia. Tricaine is the most frequently used anesthetic for zebrafish and its efficacy is well established.

Twin Study Provides Heritability Estimates for 2321 Plasma Proteins and Assesses Missing SNP Heritability.

Assessing how much variability in blood plasma proteins is due to genetic or environmental factors is essential for advancing personalized medicine. While large-scale studies have established SNP-based heritability (SNP-h) estimates for plasma proteins, less is known about the proportion of total genetic effects on protein variability. We applied quantitative genetic twin models to estimate the heritability of 2321 plasma proteins and to assess the proportion of heritability accounted for by SNP-h estimates.

Early establishment and life course stability of sex biases in the human brain transcriptome.

To elaborate on the origins of the established male-female differences in several brain-related phenotypes, we assessed the patterns of transcriptomic sex biases in the developing and adult human forebrain. We find an abundance of sex differences in expression (sex-DEs) in the prenatal brain, driven by both hormonal and sex-chromosomal factors, and considerable consistency in the sex effects between the developing and adult brain, with little sex-DE exclusive to the adult forebrain. Sex-DE was not enriched in genes associated with brain disorders, consistent with systematic differences in the characteristics of these genes (e.

Twin pair analysis uncovers links between DNA methylation, mitochondrial DNA quantity and obesity.

Alterations in mitochondrial metabolism in obesity may indicate disrupted communication between mitochondria and nucleus, and DNA methylation may influence this interplay. Here, we leverage data from the Finnish Twin Cohort study subcohort (n = 173; 86 full twin pairs, 1 singleton), including comprehensive measurements of obesity-related outcomes, mitochondrial DNA quantity and nuclear DNA methylation levels in adipose and muscle tissue, to identify one CpG at SH3BP4 significantly associated with mitochondrial DNA quantity in adipose tissue (FDR < 0.05).