Eight laboratories in six countries cooperated to clarify several issues concerning the phenotypes of heterozygous carriers of hemophilia "A." Plasma levels of factor VIII (F.VIII:C, formerly VIII:C) and von Willebrand factor (VWF:Ag, formerly VIIIR:Ag) of carriers and normal women were determined by various "in-house" methods; a single lyophilized plasma standard was used for all assays. Analysis

A semistructured personal interview was performed with 29 carriers of hemophilia A or B, 1-5 years after a pregnancy in which prenatal diagnosis (PND) was performed by fetal blood sampling. Fetal blood sampling by fetoscopy was significantly more often reported by the women to the more trying than expected than was ultrasound-guided heart puncture. Of 29 women 13 was classified as having experienc

A semistructured personal interview was performed with 29 carriers of hemophilia A or B, 1-4 years after a pregnancy in which prenatal diagnosis (PND) of hemophilia was performed by fetal blood sampling. The carriers had received different recommendations regarding future pregnancies, and 14/29 did not know before they became pregnant that PND by fetal blood sampling was possible. One third of the

BACKGROUND: In transitioning from the Millennium Development Goal to the Sustainable Development Goal era, it is imperative to comprehensively assess progress toward reducing maternal mortality to identify areas of success, remaining challenges, and frame policy discussions. We aimed to quantify maternal mortality throughout the world by underlying cause and age from 1990 to 2015.METHODS: We estim

BACKGROUND: The Global Burden of Diseases, Injuries, and Risk Factors Study 2015 provides an up-to-date synthesis of the evidence for risk factor exposure and the attributable burden of disease. By providing national and subnational assessments spanning the past 25 years, this study can inform debates on the importance of addressing risks in context.METHODS: We used the comparative risk assessment

BACKGROUND: Healthy life expectancy (HALE) and disability-adjusted life-years (DALYs) provide summary measures of health across geographies and time that can inform assessments of epidemiological patterns and health system performance, help to prioritise investments in research and development, and monitor progress toward the Sustainable Development Goals (SDGs). We aimed to provide updated HALE a

Type 2 diabetes is characterized by hyperglycemia due to insulin resistance in the target tissue and insufficient insulin secretion from the beta cells. Finding new mechanisms and pathways involved in the regulation of insulin secretion from the pancreatic beta cells is of great importance. Our group has earlier found, miRNA-212 and miRNA-132 to be upregulated in the non-obese type 2 diabetic GK r

Biogenic Volatile Organic Compounds (BVOCs) are trace gases other than CO2 and CH4 produced and emitted by the biosphere, where the amounts released depend on climatic factors such as temperature and solar irradiation. However, interpretation of leaf-level measurements is currently hampered by factors such as large within-genotypic variability, measurement height and time in the season. A campaign

In recent decades studies based on questionnaires and interviews have concluded that when doctors become ill they face significant barriers to seeking help. Several reasons have been proposed, primarily the notion that doctors' work environment predisposes them to an inappropriate help-seeking behaviour. In this article, the idea of the ill physician as a paradox in a medical drama is examined. Th

Protein homeostasis in cells, proteostasis, is maintained through several integrated processes and pathways and its dysregulation may mediate pathology in many diseases including Duchenne muscular dystrophy (DMD). Oxidative stress, heat shock proteins, endoplasmic reticulum (ER) stress and its response, i.e. unfolded protein response (UPR), play key roles in proteostasis but their involvement in t

Stanniocalcin-1 (STC-1) is a nerve cell-enriched protein involved in intracellular calcium homeostasis regulation. Changes in calcium regulation are hypothesized to play a role in the pathophysiology of Alzheimer's disease (AD). The expression of STC-1 increases in response to ischemic stroke, but whether it is altered in neurodegenerative disorder, particularly Alzheimer's disease (AD), has not b

BACKGROUND: Dysfunctions of the ubiquitin proteasome system (UPS), including the highly abundant neuronal enzyme ubiquitin carboxyl-terminal hydrolase L1 (UCH-L1), and autophagy-related changes (lysosomal degradation) are implicated in several neurodegenerative disorders including Alzheimer's disease (AD).METHOD: This study evaluated cerebrospinal fluid (CSF) levels of UCH-L1, protein deglycase (D

BACKGROUND: The discovery that heterozygous missense mutations in the gene encoding triggering receptor expressed on myeloid cells 2 (TREM2) are risk factors for Alzheimer's disease (AD), with only the apolipoprotein E (APOE) ε4 gene allele conferring a higher risk, has led to increased interest in immune biology in the brain. TREM2 is expressed on microglia, the resident immune cells of the brain

Background: Activation of the renin-angiotensin-aldosterone-system (RAAS) has been proposed to contribute to development of vascular complications in type 2 diabetes (T2D). The aim of the present study was to determine if plasma renin levels are associated with the severity of vascular changes in subjects with and without T2D. Methods: Renin was analyzed by the Proximity Extension Assay in subject

Background: Associations between BMI and DNA methylation of hypoxia-inducible factor 3-alpha (HIF3A) in both blood cells and subcutaneous adipose tissue (SAT) have been reported. In this study, we investigated associations between BMI and HIF3A DNA methylation in the blood and SAT from the same individuals, and whether HIF3A gene expression in SAT and skeletal muscle biopsies showed associations w

Popular science summaryWater is very important for life. In order to survive every organism needs to control the amount of water in its cells. One of the main ways the cell regulates its water content is through aquaporins. Aquaporins are membrane proteins that allow water and/or small neutral molecules to enter or exit the cell. Aquaporins form a large family and are present in all life forms, hoAbstractAquaporins are membrane integral proteins that facilitate the transport of waterand/or other small neutral molecules across biological membranes in cells in allforms of life. Among the subfamilies of aquaporins in higher plants, the X IntrinsicProteins (XIPs) are the most recently discovered subfamily and the leastcharacterized. However, the aromatic/arginine (ar/R) selectivity filter and