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Wolcott-Rallison syndrome is a rare genetic syndrome of neonatal diabetes, liver failure, and growth retardation. We present a case with a EIF2AK3 p.(Arg902Ter) mutation, additionally complicated by hypothyroidism, impaired renal function, and exocrine pancreas insufficiency, focusing on clinical management. For its optimization, thorough care of multiple organ systems is needed.

Parkinson's disease (PD) is a complex neurodegenerative disease, characterized by a progressive lossof dopaminergic neurons (DN) in the substantia nigra (SN) that innervate the striatum (ST) and pathologicalaccumulation of alpha-synuclein (αsyn) protein in aggregates called Lewy bodies (LB) and Lewy neurites(LN). As a complex disease, PD presents a genetically heterogeneous origin. Mutations in si

Thrombin-activatable fibrinolysis inhibitor (TAFI) plays a central role in haemostasis, and plasma TAFI concentrations are heritable. Candidate gene studies have identified several variants within the gene encoding TAFI, CPB2, that explain part of the estimated heritability. Here, we describe an exploratory genome-wide association study to identify novel variants within and outside of the CPB2 loc

Objectives: Urinary incontinence (UI) is a very common condition in the primary healthcare settings. Few studies have investigated whether sociodemographic factors are related to UI. This nationwide study aimed to investigate whether there is a relationship between sociodemographic factors and UI in women. Methods: A nationwide open cohort study included 2,044,065 women aged 15–50 years. Several n

Background: Pain is associated with falls, disability and a poor quality of life among older adults. It is highly prevalent in many societies, and studies have shown that pain could be preventable or managed more effectively at the population level. However, few studies have investigated who is at higher risk of pain in the general population, which is important for development of effective interv

BACKGROUND: Type 2 diabetes (T2D) is a major risk factor for carpal tunnel syndrome (CTS) and trigger finger (TF), but less is known regarding the risk of developing T2D after being diagnosed with CTS or TF. CTS and TF could be early signs of preclinical T2D, and early detection of T2D is crucial to prevent complications and morbidity. Therefore, we investigate the association between CTS/TF and T

Aim: Climate change is driving increasingly frequent and intense extreme climatic events, pushing many forests worldwide beyond their physiological thresholds. Despite the major role played by forests in the global carbon cycle, climate change threatens the future potential for carbon sequestration in forests. Hence, studies of recent changes in stand productivity and the underlying drivers over l

Season of birth, viral infections, HLA haplogenotypes and non-HLA variants are implicated in the development of celiac disease and celiac disease autoimmunity, suggesting a combined role of genes and environmental exposures. The aim of the study was to further decipher the biological pathways conveying the season of birth effect in celiac disease autoimmunity to gain novel insights into the early