Search results for "DISORDERS"
showing 10 items of 4560 documents
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hyper…
2023
Deleterious variants in collagen genes are the most common cause of hereditary connective tissue disorders (HCTD). Adaptations of the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) criteria are still lacking. A multidisciplinary team was set up for developing specifications of the ACMG/AMP criteria for COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL11A1, COL11A2 and COL12A1, associated with various forms of HCTD featuring joint hypermobility, which is becoming one of the most common reasons of referral for molecular testing in this field. Such specifications were validated against 209 variants, and resulted effective for classifying as p…
Down-regulation of Endogenous Amyloid Precursor Protein Processing due to Cellular Aging
2005
Processing of amyloid precursor protein (APP) is a well acknowledged central pathogenic mechanism in Alzheimer disease. However, influences of age-associated cellular alterations on the biochemistry of APP processing have not been studied in molecular detail so far. Here, we report that processing of endogenous APP is down-regulated during the aging of normal human fibroblasts (IMR-90). The generation of intracellular APP cleavage products C99, C83, and AICD gradually declines with increasing life span and is accompanied by a reduced secretion of soluble APP (sAPP) and sAPPalpha. Further, the maturation of APP was reduced in senescent cells, which has been shown to be directly mediated by a…
Addictive neurons
2017
Since the reward center is considered to be the area tegmentalis ventralis of the hypothalamus, logically its neurons could mainly be responsible for addiction. However, the literature asserts that almost any neurons of CNS can respond to one or another addictive compound. Obviously not only addictive nicotine, but also alcohol, amphetamine, cannabis, cocaine, heroin and morphine may influence dopaminergic cells alone in VTA. Moreover, paradoxically some of these drugs ameliorate symptoms, counterbalance syndromes, cure diseases and improve health, not only those related to the CNS and in adults, but also almost all other organs and in children, e.g. epilepsy.
Magnitude, temporal trends, and projections of the global prevalence of blindness and distance and near vision impairment: a systematic review and me…
2017
PubMed: 28779882
Anorectal malformations and pregnancy-related disorders: a registry-based case-control study in 17 European regions
2013
Objective To identify pregnancy-related risk factors for different manifestations of congenital anorectal malformations (ARMs).Design A population-based case-control study.Setting Seventeen EUROCAT (European Surveillance of Congenital Anomalies) registries, 1980-2008.Population The study population consisted of 1417 cases with ARM, including 648 cases of isolated ARM, 601 cases of ARM with additional congenital anomalies, and 168 cases of ARM-VACTERL (vertebral, anal, cardiac, tracheo-esophageal, renal, and limb defects), along with 13371 controls with recognised syndromes or chromosomal abnormalities.Methods Multiple logistic regression analyses were used to calculate adjusted odds ratios …
Epidemiology of eating disorders in Latin America: a systematic review and meta-analysis.
2016
Purpose of reviewEating disorders are currently not considered to be limited to Western culture. We systematically reviewed the existing literature on the prevalence of eating disorders in Latin America.Recent findingsOf 1583 records screened, 17 studies from Argentina, Brazil, Chile, Colombia, Mexico, and Venezuela were included in the analysis. Most studies reported point-prevalence rates and only three studies provided lifetime and 12-month prevalence rates. We found a mean point-prevalence rate of 0.1% for anorexia nervosa, 1.16% for bulimia nervosa, and 3.53% for binge-eating disorder (BED) in the general population. Heterogeneity for bulimia nervosa and BED was large. This meta-analys…
Coronavirus Disease 2019–Associated Coagulopathy
2021
Patients with the severe form of coronavirus disease 2019 (COVID-19) have been frequently found to suffer from both arterial and venous thrombotic events due to the perpetuation of a hypercoagulable state. This phenomenon, termed COVID-19-associated coagulopathy (CC), is now considered a major component of the pathophysiology of this novel infectious disease, leading to widespread thrombosis. While at first, the vascular insults may be limited to the pulmonary microvasculature, as the disease progresses, systemic involvement occurs, culminating in distant organ thrombosis and multi-organ dysfunction syndrome. In this review article, we discuss recent insights into the pathophysiologic mecha…
Experimental lung injury induces cerebral cytokine mRNA production in pigs
2020
Background Acute respiratory distress syndrome (ARDS) is an important disease with a high incidence among patients admitted to intensive care units. Over the last decades, the survival of critically ill patients has improved; however, cognitive deficits are among the long-term sequelae. We hypothesize that acute lung injury leads to upregulation of cerebral cytokine synthesis. Methods After approval of the institutional and animal care committee, 20 male pigs were randomized to one of three groups: (1) Lung injury by oleic acid injection (OAI), (2) ventilation only (CTR) or (3) untreated. We compared neuronal numbers, proportion of neurons with markers for apoptosis, activation state of Ib…
Is mental health literacy for depression associated with the intention toward preventive actions? A cross-sectional study among university students
2021
Objective Mental Health Literacy (MHL) might play an important role in preventing depression. This study assessed the MHL level for depression of university students and its association with intentions toward preventive actions against depression. Participants: University students (n = 315) were surveyed online. Methods: MHL level and group differences were analyzed using t-tests and one-way ANOVA. To investigate the relation between MHL and the intention for preventive actions against depression, correlation and regression analyses were performed. Results: The mean MHL level of the participants was reasonably high (42.65 of 75 points). MHL levels differed significantly between different gr…
Work Ability of Finnish Physical Education Teachers
2015
In the physical education (PE) teachers’ profession, physical tasks comprise a large part of the job. PE teachers identify their health as good, and they are satisfied with their job. Nevertheless, the work ability of PE teachers may be decreasing. Purpose: The purpose of this article was to explore the work ability of Finnish PE teachers. What disorders or physical problems do PE teachers experience as a result of their job, and how do they affect job satisfaction? Are there differences between men and women or older and younger teachers? Of the Finnish PE teachers (N = 655), 31% reported that they had at least one disease or disorder that hindered their work ability. The most common were …