Search results for "INFORMATICS"
showing 10 items of 2542 documents
Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases
2015
Background Lone atrial flutter (AFL) and atrial fibrillation (AF) are common and sometimes consequential cardiac conduction disorders with a strong heritability, as underlined by recent genome-wide association studies that identified genetic modifiers. Follow-up family-based genetic analysis also identified Mendelian transmission of disease alleles. Three affected members were exome-sequenced for the identification of potential causative mutations, which were subsequently validated by direct sequencing in the other 3 affected members. Taqman assay was then used to confirm the role of any mutation in an independent population of sporadic lone AFL/AF cases. Results The family cluster analysis…
On versus off-hour care of patients with acute coronary syndrome and persistent ST-segment elevation in certified German chest pain units
2016
BACKGROUND Regional healthcare projects improve the off-hour care of patients with acute coronary syndromes and persistent ST-segment elevation myocardial infarction (STEMI). To analyse differences in quality of care between on and off-hour care of STEMI patients admitted to certified German chest pain units. METHODS A total of 1107 STEMI patients from the German chest pain unit registry were enrolled. Analyses comprised critical time intervals (symptoms to first medical contact (FMC), FMC to admission, symptoms to admission, symptoms to balloon, FMC to balloon, door to balloon times) and major adverse cardiac and cerebrovascular events at follow-up. RESULTS 54.8% of patients were admitted …
Health‑related quality of life is strongly associated with self‑efficacy, self‑esteem, loneliness, and stress in 14–15‑year‑old adolescents: a cross‑…
2020
Abstract Background To enhance and better understand health-related quality of life (HRQOL) in adolescents, it is important to study factors associated with HRQOL. The present study aimed to assess possible associations between sociodemographic variables, self-efficacy, self-esteem, pain, sleep, loneliness, stress and HRQOL in 14 to 15-year-old adolescents. Methods A cross-sectional study was performed among 696 adolescents (14–15 years) in a school-based setting. Sociodemographic variables, self-efficacy, self-esteem, pain, sleep, loneliness and stress were analyzed. The variables were all assessed with well-validated instruments. HRQOL was analyzed using KIDSCREEN 27. Analyses included Ch…
Linkage to chromosome 1p36 for attention-deficit/hyperactivity disorder traits in school and home settings.
2008
Contains fulltext : 69485.pdf (Publisher’s version ) (Closed access) BACKGROUND: Limited success has been achieved through previous attention-deficit/hyperactivity disorder (ADHD) linkage scans, which were all designed to map genes underlying the dichotomous phenotype. The International Multi-centre ADHD Genetics (IMAGE) project performed a whole genome linkage scan specifically designed to map ADHD quantitative trait loci (QTL). METHODS: A set of 1094 single selected Caucasian ADHD nuclear families was genotyped on a highly accurate and informative single nucleotide polymorphism (SNP) panel. Two quantitative traits measuring the children's symptoms in home and school settings were collecte…
Redefining the MED13L syndrome
2015
Congenital cardiac and neurodevelopmental deficits have been recently linked to the mediator complex subunit 13-like protein MED13L, a subunit of the CDK8-associated mediator complex that functions in transcriptional regulation through DNA-binding transcription factors and RNA polymerase II. Heterozygous MED13L variants cause transposition of the great arteries and intellectual disability (ID). Here, we report eight patients with predominantly novel MED13L variants who lack such complex congenital heart malformations. Rather, they depict a syndromic form of ID characterized by facial dysmorphism, ID, speech impairment, motor developmental delay with muscular hypotonia and behavioral difficu…
Cross-country comparisons of trends in adolescent psychosomatic symptoms : a Rasch analysis of HBSC data from four Nordic countries
2018
BACKGROUND: To analyse the psychometric properties of the HBSC Symptom Checklist (HBSC-SCL) on psychosomatic symptoms with a focus on the operating characteristics of the items, and on the impacts of measurement distortions on the comparisons of person measures across time and between countries.METHODS: Data were collected in 1993/94, 1997/98, 2001/02, 2005/06, 2008/09, 2013/14 in Denmark, Finland, Norway and Sweden as part of the Health Behaviour in School-aged Children (HBSC) study. Data comprised 116,531 students 11, 13 and 15 years old. Rasch analysis was conducted of the HBSC-SCL consisting of eight items with a focus on Differential Item Functioning (DIF) and item threshold ordering. …
Expectations among patients and health professionals regarding Web-based interventions for depression in primary care: A qualitative study
2015
Background: One-quarter of the world's population will suffer from depression symptoms at some point in their lives. Mental health services in developed countries are overburdened. Therefore, cost-effective interventions that provide mental health care solutions such as Web-based psychotherapy programs have been proposed. Objective: The intent of the study was to identify expectations regarding Web-based psychotherapy for the treatment of depression in primary care among patients and health professionals that might facilitate or hinder its effects. Methods: The expectations of untreated patients and health professionals were examined by means of interviews and focus groups. There were 43 pa…
Efficacy of Three Low-Intensity, Internet-Based Psychological Interventions for the Treatment of Depression in Primary Care: Randomized Controlled Tr…
2020
Background: Primary care is a major access point for the initial treatment of depression, but the management of these patients is far from optimal The lack of time in primary care is one of the major difficulties for the delivery of evidence-based psychotherapy. During the last decade, research has focused on the development of brief psychotherapy and cost-effective internet-based interventions mostly based on cognitive behavioral therapy (CBT). Very little research has focused on alternative methods of treatment for depression using CBT. Thus, there is a need for research into other therapeutic approaches. Objective: This study aimed to assess the effectiveness of 3 low-intensity, internet…
Is the Mean Blood Leukocyte Telomere Length a Predictor for Sporadic Thoracic Aortic Aneurysm? Data from a Preliminary Study
2012
Telomeres have been postulated as a universal clock that shortens in parallel with cellular aging. They are specialized DNA-protein structures at the ends of chromosome with remarkable functions--preventing their recognition as double-stranded DNA breaks, protecting their recombination and degradation, and avoiding a DNA damage cellular response. Telomere shortening is currently considered the best aging marker, but is also a predictor for age-related diseases, including cardiovascular diseases. Biological age clearly seems to be a better predictor of vascular risk rather than chronological age. This concept is supported by key assumptions that peripheral blood leukocyte telomere content ac…
Gut microbiota disturbance during antibiotic therapy: a multi-omic approach
2014
It is known that the gastrointestinal tract (GIT) microbiota responds to different antibiotics in different ways and that while some antibiotics do not induce disturbances of the community, others drastically influence the richness, diversity, and prevalence of bacterial taxa. However, the metabolic consequences thereof, independent of the degree of the community shifts, are not clearly understood. In a recent article, we used an integrative OMICS approach to provide new insights into the metabolic shifts caused by antibiotic disturbance. The study presented here further suggests that specific bacterial lineage blooms occurring at defined stages of antibiotic intervention are mostly associa…