Search results for "ash"
showing 10 items of 1718 documents
Human limbal fibroblast-like stem cells induce immune-tolerance in autoreactive T lymphocytes from female patients with Hashimoto’s thyroiditis
2017
Background Due to their “natural immune privilege” and immunoregulatory properties human fibroblast-like limbal stem cells (f-LSCs) have acquired great interest as a potential tool for achieving immunotolerance. Hashimoto’s thyroiditis (HT) is the most common thyroid autoimmune disease and cause of hypothyroidism. To date, conventional hormone replacement therapy and unspecific immunosuppressive regimens cannot provide a definitive cure for HT subjects. We explored the immunosuppressant potential of human f-LSCs on circulating lymphomonocytes (PBMCs) collected from healthy donors and female HT patients. Methods We assessed the immunophenotyping of f-LSCs, both untreated and after 48 h of pr…
Case report : partial uniparental disomy unmasks a novel recessive mutation in the LYST gene in a patient with a severe phenotype of Chediak-Higashi …
2021
Síndrome de Chédiak-Higashi; LYST; Disomia uniparental Síndrome de Chédiak-Higashi; LYST; Disomía uniparental Chédiak-Higashi syndrome; LYST; Uniparental disomy Chédiak-Higashi syndrome (CHS) is a rare autosomal recessive (AR) immune disorder that has usually been associated to missense, nonsense or indels mutations in the LYST gene. In this study, we describe for the first time the case of a CHS patient carrying a homozygous mutation in the LYST gene inherited as a result of a partial uniparental isodisomy (UPiD) of maternal origin. Sanger sequencing of the LYST cDNA and single nucleotide polymorphism (SNP)-arrays were performed to identify the causative mutation and to explain the molecul…
Compliance, practices, and attitudes towards VTIs (Vehicle Technical Inspections) in Spain: What prevents Spanish drivers from checking up their cars?
2021
Objective Mechanical conditions of vehicles may play a determinant role in driving safety, the reason why vehicle periodical technical inspections (VTIs) are mandatory in many countries. However, the high number of drivers sanctioned for not complying with this regulation is surprisingly high, and there is not much evidence on what kind(s) of motives may explain this concerning panorama. This study aimed to identify the aspects that modulate the relationship between complying (or not) with VTI’s standards in a nationwide sample of Spanish drivers. The study design also addressed the drivers’ awareness regarding different risky behaviors while driving, depending on their sex and their crash…
Stopping injection attacks with code and structured data
2018
Injection attacks top the lists of the most harmful software vulnerabilities. Injection vulnerabilities are both commonplace and easy to exploit, which makes development of injection protection schemes important. In this article, we show how injection attacks can be practically eliminated through the use of structured data paired with cryptographic verification codes upon transmission. peerReviewed
Diagnostic accuracy of elastography and magnetic resonance imaging in patients with NAFLD: A systematic review and meta-analysis
2021
[Background and Aims] Vibration-controlled transient elastography (VCTE), point shear wave elastography (pSWE), 2-dimensional shear wave elastography (2DSWE), magnetic resonance elastography (MRE), and magnetic resonance imaging (MRI) have been proposed as non-invasive tests for patients with non-alcoholic fatty liver disease (NAFLD). This study evaluated their diagnostic accuracy for liver fibrosis and non-alcoholic steatohepatitis (NASH).
Identification of novel mutations in L1CAM gene by a DHPLC-based assay
2016
X-linked hydrocephalus, MASA syndrome, X-linked complicated Spastic Paraplegia Type I, and X-linked partial agenesis of the corpus callosum are rare diseases mainly affecting male population and broadly referred as L1 syndrome, caused by mutations in the L1CAM gene. In the present study 36 boys and a male fetus whose clinical features were consistent with L1 syndrome were analyzed by dHPLC assay and direct sequencing of L1CAM gene. Sequence analysis of the 14 different aberrant dHPLC elution profiles demonstrated that six of them were associated with already reported polymorphisms, four with previously described causative variants while the remaining four represented novel L1CAM mutations. …
Interferon lambda 4 rs368234815 TT>δG variant is associated with liver damage in patients with nonalcoholic fatty liver disease
2017
Background and Aims: The IFNL3/4 locus influencing innate immunity regulation has been associated with the severity of hepatitis and fibrosis progression during chronic hepatitis C infection, while contrasting results were reported in NAFLD. In this study, we examined whether rs12979860 and the linked causal rs368234815 variant encoding for the alternative IFNL4 protein variant are associated with liver fibrosis and damage in a large multicenter cohort of patients at risk of NASH. To clarify the mechanism, we also evaluated the impact on interferon-stimulated gene (ISG) hepatic expression in a subset of patients. Methods: We considered 946 consecutive Italian individuals at risk of NASH wit…
Caries Development in Fluoridated and Non-Fluoridated Deciduous and Permanent Enamel in Situ Examined by Microradiography and Confocal Laser Scanning…
1998
The aim of the study was to compare initial caries development in fluoridated and non-fluoridated deciduous and permanent enamel in situ. Enamel slabs were mounted in removable appliances and worn for 4 wks. Significantly larger lesions developed in deciduous than in permanent enamel when no topical fluorides were used. Fluoride mouthrinsing partly prevented lesion development in deciduous and completely in permanent enamel. Initial enamel caries not detected by microradiography can be visualized by CLSM (confocal laser scanning microscopy).
Fibres as functional foods and the effects on gut hormones: The example of β-glucans in a single arm pilot study
2018
Abstract Nutritional styles as Mediterranean and DASH diets are associated with lower incidences of certain chronic diseases and long life expectancy. The reason lays on their different contribution in fibers, polyphenols (from vegetables and fruit) and proteins. Barley is high fiber cereal that contains high amount of β-glucans and insoluble fibers that it was recognized having healthy benefits. The aim of the study was to evaluate the effects of β-glucans intake on glycaemic response, cholesterol and intestinal hormones levels. A single arm pilot study was performed with ten healthy individual which, consumed pasta enriched with 6% β-glucans for 30 days. Blood was collected at fasting and…
Transcriptomic profiling across the nonalcoholic fatty liver disease spectrum reveals gene signatures for steatohepatitis and fibrosis
2020
International audience; The mechanisms that drive nonalcoholic fatty liver disease (NAFLD) remain incompletely understood. This large multicenter study characterized the transcriptional changes that occur in liver tissue across the NAFLD spectrum as disease progresses to cirrhosis to identify potential circulating markers. We performed high-throughput RNA sequencing on a discovery cohort comprising histologically characterized NAFLD samples from 206 patients. Unsupervised clustering stratified NAFLD on the basis of disease activity and fibrosis stage with differences in age, aspartate aminotransferase (AST), type 2 diabetes mellitus, and carriage of PNPLA3 rs738409 , a genetic variant assoc…