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Cantú syndrome involves fetal polyhydramniosis, congenital hypertrichosis, and macrosomia. Distinctive features include acromegaloid features with broad nasal bridge and macroglossia as well as cardiac abnormalities, including patent ductus arteriosus. We present a case in a male patient, who presented with cardiac abnormalities in childhood, but was diagnosed with the syndrome in adulthood after

Colorectal cancer (CRC) is linked to the WNT/β-catenin signaling as its primary driver. Aberrant activation of WNT/β-catenin signaling is closely correlated with increased incidence, malignancy, poorer prognosis, and even higher cancer-related death. Research over the years has postulated various experimental models that have facilitated an understanding of the complex mechanisms underlying WNT si

Type 2 diabetes is associated with cardiovascular disease, possibly due to impaired vascular fibrous repair. Yet, the mechanisms are elusive. Here, we investigate alterations in the fibrous repair processes in type 2 diabetes atherosclerotic plaque extracellular matrix by combining multi-omics from the human Carotid Plaque Imaging Project cohort and functional studies. Plaques from type 2 diabetes

Context: The role of glucagon-like peptide-1 (GLP-1) in type 2 diabetes (T2D) and obesity is not fully understood. Objective: We investigate the association of cardiometabolic, diet, and lifestyle parameters on fasting and postprandial GLP-1 in people at risk of, or living with, T2D. Methods: We analyzed cross-sectional data from the two Innovative Medicines Initiative (IMI) Diabetes Research on P

PIWI-interacting RNAs (piRNAs) are important for ensuring the integrity of the germline. 3'-terminal 2'-O-methylation is essential for piRNA maturation and to protect them from degradation. HENMT1 (HEN Methyltransferase 1) carries out the 2'-O-methylation, which is of key importance for piRNA stability and functionality. However, neither the structure nor the catalytic mechanism of mammalian HENMT

This study investigates the role of multi-stakeholder networks in disaster risk management (DRM) capacity development and how it aligns with the principles of the Sendai Framework for Disaster Risk Reduction. While the Framework emphasises collaboration, coordination, and partnerships among diverse stakeholders, there remains a gap in understanding how networks foster and sustain collaborative DRM

Exploring a wide variety of visualizations of pregnancy and fetuses through 300 years of history, this timely volume offers a fresh look at the influential feminist concept of the "public fetus."Images of pregnant and fetal bodies are today visible everywhere. Through ultrasound screenings at maternity clinics, birth videos on social media platforms, or antiabortion propaganda, visualizations of p

Aims: To investigate if addition of metformin to standard care (life-style advice) reduces the occurrence of cardiovascular events and death after myocardial infarction (MI) in patients with newly detected prediabetes. Methods: The Myocardial Infarction and new treatment with Metformin study (MIMET) is a large multicentre registry-based randomised clinical trial (R-RCT) within the SWEDEHEART regis

Epigenetic dysregulation may influence disease progression. Here we explore whether epigenetic alterations in human pancreatic islets impact insulin secretion and type 2 diabetes (T2D). In islets, 5,584 DNA methylation sites exhibit alterations in T2D cases versus controls and are associated with HbA1c in individuals not diagnosed with T2D. T2D-associated methylation changes are found in enhancers

Arctic ecosystems are warming nearly 4 times faster than the global average, which is resulting in plant community shifts and subsequent changes in biogeochemical processes such as gaseous fluxes. Additionally, herbivores shape plant communities and thereby may alter the magnitude and composition of ecosystem respiration and biogenic volatile organic compound (BVOC) emissions. Here we determine th

To understand, predict and mitigate climate change, it is crucial to have long-term and standardised measurements of greenhouse gas concentrations in the atmosphere and their fluxes between atmosphere, land and oceans. The Integrated Carbon Observation System, is a distributed European Research Infrastructure which provides high-precision and highly standardised observations from more than 170 sta

Little is known about the genetic determinants of medication use in preventing cardiometabolic diseases. Using the Finnish nationwide drug purchase registry with follow-up since 1995, we performed genome-wide association analyses of longitudinal patterns of medication use in hyperlipidemia, hypertension and type 2 diabetes in up to 193,933 individuals (55% women) in the FinnGen study. In meta-anal

Resilience has in recent decades been introduced as a term describing a new perspective within the domains of disaster management and safety management. Several theoretical interpretations and definitions of the essence of resilience have been proposed, but less work has described how to operationalise resilience and implement the concept within organisations. This case study describes the impleme

Heart failure (HF) is a leading cause of death and disability globally. Heritable factors and the extent and pattern of myocardial fibrosis are important determinants of outcomes in patients with HF. In a genome-wide association study of mortality in HF, we recently identified a genetic polymorphism on chromosome 5q22 associated with HF mortality. Here, we sought to study the mechanisms by which t