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Purpose: TRPM1-associated congenital stationary night blindness (CSNB) is characterized by nystagmus and high myopia. We assessed retinal function and structure over long-term follow-up up to 10 years in two siblings from a family with the homozygous deletion c.2394delC in exon 18 that we previously identified. In addition, we describe retinal function and structure in two other siblings with the
Receptor tyrosine kinases (RTKs) are implicated in cardiovascular growth and remodelling. We aimed to identify the plasma levels of RTKs and related proteins and their association with haemodynamic alterations in heart failure (HF) and related pulmonary hypertension (PH) following heart transplantation (HT). Using proximity extension assay, 28 RTKs and related proteins were analysed in plasma from
NG2 cells, a fourth glial cell type in the adult mammalian central nervous system, produce oligodendrocytes in the healthy nervous tissue, and display wide differentiation potential under pathological conditions, where they could give rise to reactive astrocytes. The factors that control the differentiation of NG2 cells after focal cerebral ischemia (FCI) are largely unknown. Here, we used transge
Background: Oxygen (O2) treatment has been a cornerstone in the treatment of patients with myocardial infarction. Recent studies, however, state that supplemental O2 therapy may have no effect or harmful effects in these patients. The aim of this study was thus to evaluate the effect of O2 therapy in patients with ST Elevation Myocardial Infarction (STEMI) based on the culprit vessel; Left Anterio
Identifying concomitant Lewy body (LB) pathology through seed amplification assays (SAA) might enhance the diagnostic and prognostic work-up of Alzheimer’s disease (AD) in clinical practice and trials. This study examined whether LB pathology exacerbates AD-related disease progression in 795 cognitively impaired individuals (Mild Cognitive Impairment and dementia) from the longitudinal multi-cente
Peptihub (https://bioinformaticscollege.ir/peptihub/) is a meticulously curated repository of cancer-related peptides (CRPs) that have been documented in scientific literature. A diverse collection of CRPs is included in the PeptiHub, showcasing a spectrum of effects and activities. While some peptides demonstrated significant anticancer efficacy, others exhibited no discernible impact, and some e
Medication can affect the gut microbiota composition and function. The aim of this study was to investigate connections between use of common non-antibiotic medicines and the gut microbiota composition and function in a large Swedish cohort (N = 2223). Use of 67 medications and polypharmacy (≥ 5 medications), based on self-reported and prescription registry data, were associated with the relative
Purpose: Pancreatic ductal adenocarcinoma (PDAC) can be classified into distinct histological subtypes based on the WHO nomenclature. The aim of this study was to compare the prognosis of conventional PDAC (cPDAC) against the other histological variants at the population level. Methods: The Surveillance, Epidemiology and End Results (SEER) database was used to identify patients with microscopicall
The genetics of β-cell function (BCF) offer valuable insights into the aetiology of type 2 diabetes (T2D)1,2. Previous studies have expanded the catalogue of BCF genetic associations through candidate gene studies3–7, large-scale genome-wide association studies (GWAS) of fasting BCF8,9 or functional islet studies on T2D risk variants10–14. Nonetheless, GWAS focused on BCF traits derived from oral
Mid-ocean ridges are unique, tectonically active geographical units on Earth that profoundly control the ocean environment and dynamics at the global scale. However, high-resolution topographic data from mid-ocean ridges are rarely available due to the difficulty in detecting ocean floors, which further limits ocean research at the global scale. Here, we divide the global mid-ocean ridge system in
Background. The aim of this study was to provide an overview of age, sex and primary renal disease (PRD) distribution among first kidney transplant recipients across Europe. Method. The European Renal Association (ERA) Registry database was used to obtain data on patients aged 20 years or older receiving their first kidney transplant between 2010 and 2019 from 12 European countries. The numbers an
Forests are pivotal for biodiversity, food webs, and human economies, and as carbon sinks their climate change mitigation potential is undisputed. However, whether trees continue to efficiently accumulate biomass at an increasing rate with age, how growth trajectories respond to climate change, and vary with latitude at species range margins is under debate. Here, we combine tree-ring data with bi
Purpose: To analyse graft detachment rates after Descemet stripping automated endothelial keratoplasty (DSAEK) using surgeon-cut grafts and pre-cut grafts transported in different mediums. Methods: A retrospective study of graft detachment rates including 265 surgeries (240 patients) performed between 2019 and 2023. The DSAEK grafts were either surgeon-cut (n = 135) or pre-cut and transported in a
Soil cadmium (Cd) contamination significantly threatens ecosystems and human health. Traditional geochemical investigation, although accurate, is impractical for wide-area and frequent monitoring applications. Multi-spectral satellite images combined with the homologous pollution information (HPI) and the spectral and content information of soil organic matter (SOMSCI) is an unconventional and pro
Background: Patients in the forensic mental health services (FMHS) with a mental disorder, a co-occurring substance use disorder (SUD), and high risk of aggressive antisocial behavior (AAB) are sometimes referred to as the ‘triply troubled’. They suffer poor treatment outcomes, high rates of criminal recidivism, and increased risk of drug related mortality. To improve treatment for this heterogene
BACKGROUND: Identifying variables predictive of acute myocardial infarction (AMI) in women is important. The use of the ratio of total cholesterol-to-high density lipoprotein cholesterol (TC/HDL-C) is often overlooked. The aim was to study TC/HDL-C in relation to later AMI, in a large sample of women, adjusted for age, educational status, smoking, waist-hip ratio, blood pressure, and neighbourhood
Conspiracies regarding vaccines are widely prevalent, with negative consequences on health-seeking behaviors. The current study aimed to investigate the possible association between the embrace of vaccine conspiracies and the attitude to booster COVID-19, seasonal influenza, and monkeypox (mpox) vaccinations as well as the perceived side effects following COVID-19 vaccination. The target populatio
