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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

Since 2021, the DarkLab at Lund University (LU) and the Digital Research Service at the French National Institute of Art History (INHA) have collaborated to develop state-of-the-art digital systems and tools for the management and publication of archaeological data, including information from fieldwork and artefact collections. Drawing on the combined expertise of both institutions, this partnersh

Identifying patients at risk for metastatic relapse is a critical medical need. We identified a common missense germline variant in proprotein convertase subtilisin/kexin type 9 (PCSK9) (rs562556, V474I) that is associated with reduced survival in multiple breast cancer patient cohorts. Genetic modeling of this gain-of-function single-nucleotide variant in mice revealed that it causally promotes b

High-resolution x-ray tomography is a common technique for biomedical research using synchrotron sources. With advancements in laboratory x-ray sources, an increasing number of experiments can be performed in the lab. In this paper, the design, implementation, and verification of a laboratory setup for x-ray nano-computed tomography is presented using a nano-focus x-ray source and high geometric m

Diabetes is an escalating health concern affecting approximately 152.6 million people globally in rural areas, with a significant rise in low- and middle-income countries where over 75% of affected adults live. These populations face unique challenges, including delayed diagnosis, limited access to specialized care, and economic hardships, leading to severe complications such as cardiovascular dis

Dissolved organic carbon (DOC) affects the acidity in soil and lake waters and buffers both against acidification and against recovery from acidification. Current acidification assessments, based on the widely used MAGIC (Model of Acidification of Groundwater In Catchments) model, often assume constant DOC concentrations through time, but observations suggest this assumption may not be warranted.

The workplace is an important part of many people's lives. Many transgender and gender-diverse (TGD) individuals have negativeexperiences of their workplace due to discrimination and cisnormativity. Whether or not to be open about TGD experiences, andthe degree of openness, is something many TGD individuals struggle with at work. Openness is related to well-being and job satis-faction and is thereThe workplace is an important part of many people's lives. Many transgender and gender-diverse (TGD) individuals have negative experiences of their workplace due to discrimination and cisnormativity. Whether or not to be open about TGD experiences, and the degree of openness, is something many TGD individuals struggle with at work. Openness is related to well-being and job satisfaction and is ther

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