Abstract: Two affected individuals of the Swedish family with CDA, type III, in which the disease is transmitted as an autosomal dominant character, were studied. Both cases displayed features hitherto undescribed in this family but described in patients with CDA, type III, in whom the inheritance may have been as an autosomal recessive character. Such features were: (a) haemosiderinuria, (b) gros

Objective: Acute administration of the main protein component of high-density lipoprotein, apolipoprotein A-I (ApoA-1), improves glucose uptake in skeletal muscle. The molecular mechanisms mediating this are not known, but in muscle cell cultures, ApoA-1 failed to increase glucose uptake when infected with a dominant-negative AMP-activated protein kinase (AMPK) virus. We therefore investigated whe

Abstract: A family with congenital dyserythropoietic anaemia type III was studied. Twenty patients and 10 of their healthy siblings were clinically examined and questioned about their medical history. Blood sampling and bone marrow aspirations were also performed. Forty‐five percent of the patients reported symptoms of anaemia and 35% regularly felt weakness, fatigue, or headache. However, the maj

The diversity of genetic and non-genetic processes that make offspring resemble their parents are increasingly well understood. In addition to genetic inheritance, parent-offspring similarity is affected by epigenetic, behavioural and cultural mechanisms that collectively can be referred to as non-genetic inheritance. Given the generality of the Price equation as a description of evolutionary chan

Purpose of Review: Many aspects of reproduction have been associated with increased blood pressure and impaired glucose metabolism that reveals a subsequent increased risk of cardiovascular disease. The aim of this review is to assess reproductive life factors associated with an increased risk of hypertension and cardiovascular disease, e.g., early life programming, sexual, and reproductive health

Locally adapted ecotypes can constitute an important part of the biodiversity, especially in young floras with few endemic species. However, the origins, distinctness and conservation value of many ecotypes remain uncertain because genetic data are lacking or no common-garden study has been carried out. In the present study, we evaluated the distinctness and genetic structure of a phenotypically d

Several in vitro and in vivo studies have investigated if a magnetic resonance imaging (MRI) examination can cause DNA damage in human blood cells. However, the electromagnetic field (EMF) exposure that the cells received in the MR scanner was not sufficiently described. The first studies looking into this could be regarded as hypothesis-generating studies. However, for further exploration into th

Chronic kidney disease (CKD) is a multifactorial disorder with an important genetic component, and several studies have demonstrated potential associations with allelic variants. In addition, CKD patients are also characterized by high levels of genomic damage. Nevertheless, no studies have established relationships between DNA damage, or genomic instability present in CKD patients, and gene polym

Nanny Palmkvist var folkskollärare, pedagog och rösträttspionjär. Hon var även en pionjär när det gällde att som kvinna använda cykeln som färdmedel för längre transportsträckor.

Tidningsutgivare, rösträttskvinna, fredsaktivist

Performing advanced and reliable Building Performance Simulations (BPS) in order to study, for example, the energy use of future buildings is an important ability to gain as a future energy specialist. Learning and understanding BPS software and results may be arduous, notably for groups with disparate knowledge. Frustration may arise among students, making learning even more difficult. In this pa

Previously, intragenic CAMTA1 copy number variants (CNVs) have been shown to cause non-progressive, congenital ataxia with or without intellectual disability (OMIM#614756). However, ataxia, intellectual disability, and dysmorphic features were all incompletely penetrant, even within families. Here, we describe four patients with de novo nonsense, frameshift or missense CAMTA1 variants. All four pa

Formate is one of the key compounds of the microbial carbon and/or energy metabolism. It owes a significant contribution to various anaerobic syntrophic associations, and may become one of the energy storage compounds of modern energy biotechnology. Microbial growth on formate was demonstrated for different bacteria and archaea, but not yet for species of the archaeal phylum Crenarchaeota. Here, w

Purpose of ReviewWomen with prevalent pregnancy complications (including preterm birth and preeclampsia) have twice the risk of later cardiovascular disease (CVD) compared to unaffected women. Current prevention guidelines recommend that reproductive history should be part of a woman’s CVD risk assessment. This review synthesizes recent findings on the value of history of pregnancy complications i

OBJECTIVE: Nonalcoholic fatty liver disease (i.e., increased intrahepatic triglyceride [IHTG] content), predisposes to type 2 diabetes and cardiovascular disease. Adipose tissue lipolysis and hepatic de novo lipogenesis (DNL) are the main pathways contributing to IHTG. We hypothesized that dietary macronutrient composition influences the pathways, mediators, and magnitude of weight gain-induced ch

Introduction: A critical and as-yet unmet need in Alzheimer's disease (AD) is the discovery of peripheral small molecule biomarkers. Given that brain pathology precedes clinical symptom onset, we set out to test whether metabolites in blood associated with pathology as indexed by cerebrospinal fluid (CSF) AD biomarkers. Methods: This study analyzed 593 plasma samples selected from the European Med

Geospatial information is indispensable for various spatially-informed analysis and decision-making, e.g. traffic analysis and built environment processes. Geospatial data often must be integrated for meaningful analysis, whereas such integration is challenging due to siloed data organization, semantic heterogeneity and multiple representation of geospatial data. Moreover, the visualization of geo

The production of modem wood fuels generally requires advanced silvicultural and agricultural technology as well as large areas of suitable land. The use of cultivated crops as a resource in modern energy systems attracts the greatest interest in countries where access to wood resources is limited and where the cultivated area is large enough to support advanced harvest and cultivation systems. Cu