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Parkinson's disease (PD) is a multifactorial movement disorder characterized by progressive neurodegeneration. Genome-wide association studies (GWAS) have nominated over fifteen distinct loci associated with risk of PD, however the biological mechanisms by which these loci influence disease risk are mostly unknown. GWAS are only the first step in the identification of disease genes: the specific c

Background: Proteolytic Clostridium botulinum is the causative agent of botulism, a severe neuroparalytic illness. Given the severity of botulism, surprisingly little is known of the population structure, biology, phylogeny or evolution of C. botulinum. The recent determination of the genome sequence of C. botulinum has allowed comparative genomic indexing using a DNA microarray. Results: Whole ge

Context: Prostate cancer (PCa) is one of the most common human malignancies and arises through genetic and epigenetic alterations. Epigenetic modifications include DNA methylation, histone modifications, and microRNAs (miRNA) and produce heritable changes in gene expression without altering the DNA coding sequence. Objective: To review progress in the understanding of PCa epigenetics and to focus

Background: Arsenic is mono- (MMA) and dimethylated (DMA) in humans and the methylation pattern demonstrates large inter-individual differences. The fraction of urinary MMA is a marker for susceptibility to arsenic-related diseases. Objectives: The impact of polymorphisms in five methyltransferase genes on arsenic metabolism was evaluated in two populations, one in South America, one in southeast

Context: The risk of many conditions, including prostate cancer, breast cancer, and osteoporosis, is associated with serum levels of sex steroids. Objective: The aim of the study was to identify genetic variations in sex steroid-related genes that are associated with serum levels of estradiol (E2) and/or testosterone in men. Design: Genotyping of 604 single nucleotide polymorphisms in 50 sex stero

Context: Test driven development (TDD) has been extensively researched and compared to traditional approaches (test last development, TLD). Existing literature reviews show varying results for TDD. Objective: This study investigates how the conclusions of existing literature reviews change when taking two study quality dimension into account, namely rigor and relevance. Method: In this study a sys

Context: MicroRNAs (miRNA) are noncoding RNAs that post- transcriptionally regulate gene expression. Their altered expression and function have been observed in most urologic cancers. MiRNAs represent potential disease biomarkers and novel therapeutic targets. Objective: To review and evaluate the evidence implicating miRNAs in the pathogenesis of prostate cancer (PCa), bladder cancer (BCa), and r

Objective. While the prevalence of radiographic thumb carpometacarpal (CMC1) osteoarthritis (OA) is well-described, little is known about clinically symptomatic disease presenting to physicians for care. We sought to determine the prevalence of doctor-diagnosed CMC1 OA. Methods. Using health care data from Skane in southern Sweden (population 1.24 million), we identified all adults ages >= 20 year

Introduction: Complement activation is involved in rheumatoid arthritis (RA), systemic lupus erythematosus (SLE) and atypical hemolytic uremic syndrome (aHUS). Autoantibodies to complement inhibitor factor H (FH), particularly in association with deletions of the gene coding for FH-related protein 1 (CFHR1), are associated with aHUS. Methods: Autoantibodies against FH, factor I (FI) and C4b-bindin

Accurate and internationally comparable human papillomavirus (HPV) DNA genotyping is essential for HPV vaccine research and for HPV surveillance. The HPV Laboratory Network (LabNet) has designed international proficiency studies that can be issued regularly and in a reproducible manner. The 2011 HPV genotyping proficiency panel contained 43 coded samples composed of purified plasmids of 16 HPV typ

Popular Abstract in English There is a growing prevalence of disorders associated to the metabolic syndrome globally. To reverse this trend lifestyle changes are required. Among dietary factors, dietary fibre that is associated with several health benefits plays an interesting role. Barley is highly unutilized as human food, and it contains high amounts of dietary fibre. The composition of the barBarley is one of the most important crops in the world. Although it is mainly used as the raw material for the production of beer and animal feed, it has recently attracted interest from nutritionists and consumers, due to its high content of dietary fibre, especially β-glucan, and its relation to various positive health effects. The proposed mechanisms behind the health effects are the formation

Cystinuria is an autosomal recessive disorder characterized by increased urinary excretion of cystine and dibasic amino acids, which cause recurrent stone formation in affected individuals. Three subtypes of cystinuria have been described (type I, II, and III): type I is caused by mutations in the SLC3A1 gene, whereas nontype I (II and III) has been associated with SLC7A9 mutations. Of the 53 pati

OBJECTIVE: To determine whether exposure to cardiovascular medications and statins is associated with increased risk of giant cell arteritis (GCA). DESIGN: The population-based case-control study comprised a cohort of patients with biopsy-confirmed GCA linked to the Swedish Prescribed Drug Register to identify all exposure to drugs prior to diagnosis of GCA. Ten controls per GCA case, matched for

AIM: Routine colonoscopy to exclude colorectal cancer (CRC) after CT-verified acute diverticulitis is controversial. This study aimed to compare the incidence of CRC in acute diverticulitis patients with that in the general population. METHOD: Patients with an emergency admission for diverticular disease, to any Norwegian hospital, between January 1st , 2008 and December 31st , 2010 were included

Identification and relative quantification of hundreds to thousands of proteins within complex biological samples have become realistic with the emergence of stable isotope labeling in combination with high throughput mass spectrometry. However, all current chemical approaches target a single amino acid functionality (most often lysine or cysteine) despite the fact that addressing two or more amin

Introduction: Few large studies have examined the heritability of venous thromboembolism (VTE). Moreover, twin studies have been suggested to overestimate heritability. The aim of the present study was to determine the heritability nationwide in the general Swedish population using full siblings and half-siblings. Methods: VTE was defined using the Swedish patient register. Full sibling (FS) and h

Hereditary nonpolyposis colorectal cancer (HNPCC) is caused by a germline mutation in one of several DNA repair genes, which in the tumors is reflected as microsatellite instability (MSI). MSI+ tumors have been found to carry somatic frameshift mutations in mononucleotide repeats within the coding regions of several genes involved in growth control, apoptosis, and DNA repair, e.g., TGFBRII, BAX, I

Gender assignment in languages with a gender system is a complex issue, as this can be influenced by both semantic, morphological, and phonological factors (Corbett, 1991, 2013; Corbett & Fraser, 2000). Many Indo-European languages possess a three-gender system, which distinguishes masculine, feminine, and neuter gender. Whereas this system is preserved in several Indo-European branches, it ha

India is a developing country with a large landmass and a huge socio-culturally, economically and ethnically diverse population. The healthcare system for such a diverse and complex country entails challenges and difficulties in execution and outreach. Here, the emerging area of telehealth could afford a place for itself in providing healthcare and health education to a large section of people res

Osteoporosis is a major health problem affecting more than 75 million people throughout Europe, USA and Japan. Epidemiological studies have determined that both genetic and environmental factors contribute to the pathogenesis of osteoporosis. We have investigated the association between polymorphisms at the osteocalcin locus and variables linked to bone health. Osteocalcin provides a link between