Search results for "sabi"
showing 10 items of 3020 documents
The quality of life in girls with Rett syndrome
2016
Nowadays, quality of life is receiving an increasing attention in all scientific areas. Rett syndrome (RTT) is a rare neurological development, affecting mainly females. The congenital disease affects the central nervous system, and is one of the most common causes of severe intellectual disability. The aim of our study is to evaluate the effect of RTT on the quality of life of people who are affected. Both parents of 18 subjects, all female, diagnosed with RTT, took part in the research. Quality of life was assessed using the Italian version of the Impact of Childhood Illness Scale. This scale consists of 30 questions that investigate the effect of illness on children, parents and families…
Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic Factors
2020
International audience; Purpose: Cohen syndrome (CS) is a rare genetic disorder caused by variants of the VPS13B gene. CS patients are affected with a severe form of retinal dystrophy, and in several cases cataracts also develop. The purpose of this study was to investigate the mechanisms and risk factors for cataract in CS, as well as to report on cataract surgeries in CS patients.Methods: To understand how VPS13B is associated with visual impairments in CS, we generated the Vps13b∆Ex3/∆Ex3 mouse model. Mice from 1 to 3 months of age were followed by ophthalmoscopy and slit-lamp examinations. Phenotypes were investigated by histology, immunohistochemistry, and western blot. Literature anal…
The Assessment of Serum Concentrations of AGEs and Their Soluble Receptor (sRAGE) in Multiple Sclerosis Patients
2021
Background: Advanced glycation end products (AGEs) are involved in the pathogenesis of many diseases, including neurodegenerative diseases such as multiple sclerosis (MS). The aim of the study was to determine serum concentrations of AGEs and their soluble receptor (sRAGE) in MS patients and healthy controls and to investigate their possible influence on disease activity. Methods: Serum concentrations of AGE and sRAGE in patients with MS and healthy controls were determined by enzyme-linked immunosorbent assay (ELISA). Results: The mean serum AGE concentration in patients with MS was higher than in healthy controls, whereas the mean serum sRAGE concentration was lower than in the control gr…
Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of…
2017
International audience; PurposeCongenital anomalies and intellectual disability (CA/ID) are a major diagnostic challenge in medical genetics—50% of patients still have no molecular diagnosis after a long and stressful diagnostic “odyssey.” Solo clinical whole-exome sequencing (WES) was applied in our genetics center to improve diagnosis in patients with CA/ID.MethodsThis retrospective study examined 416 consecutive tests performed over 3 years to demonstrate the effectiveness of periodically reanalyzing WES data. The raw data from each nonpositive test was reanalyzed at 12 months with the most recent pipeline and in the light of new data in the literature. The results of the reanalysis for …
Prognostic indicators in pediatric clinically isolated syndrome
2017
Objective To assess prognostic factors for a second clinical attack and a first disability-worsening event in pediatric clinically isolated syndrome (pCIS) suggestive of multiple sclerosis (MS) patients. Methods A cohort of 770 pCIS patients was followed up for at least 10 years. Cox proportional hazard models and Recursive Partitioning and Amalgamation (RECPAM) tree-regression were used to analyze data. Results In pCIS, female sex and a multifocal onset were risk factors for a second clinical attack (hazard ratio [HR], 95% confidence interval [CI] = 1.28, 1.06–1.55; 1.42, 1.10–1.84, respectively), whereas disease-modifying drug (DMD) exposure reduced this risk (HR, 95% CI = 0.75, 0.60–0.95…
Assessment of Usability of Thermal Bicarbonate Mineral Water from the “Odra-5/I” Intake in Grabin Opole Silesia (SW Poland) for Therapeutic and Proph…
2020
Thermal bicarbonate mineral water belong to sought-after balneological resources. This kind of water are a balneological product and valuable raw material used in health resorts for the wider health strategy - prophylaxis and recreation. The discovery of thermal bicarbonate mineral water in Grabin near Opole in 1983 was purely incidental when a intake was made for the recognition of the geological structure of the crystalline basement of Mesozoic and Cenozoic sediments. Thermal bicarbonate mineral water existing in Grabin can be found in the Fore-Sudetic block and is a unique phenomenon. Its chemical composition, and especially high total mineral salt content of the waters from Grabin, indi…
The Impact of Body Mass Index on Disease Progression in Ankylosing Spondylitis
2018
Abstract Obesity can be a factor that affects the course of chronic systemic inflammatory arthritis. The objective of this study was to characterise patients with ankylosing spondylitis (AS) according to an evaluation of their body mass index (BMI) and by exploring the link between the overweightness and obesity with routinely measured disease-specific variables, including disease activity (Bath Ankylosing Spondylitis Disease Activity Index BASDAI; Ankylosing Spondylitis Disease Activity Score, using CRP, ASDAScrp), spinal mobility (Bath Ankylosing Spondylitis Metrology Index, BASMI), functional capacity (BASFI), extraspinal manifestations like fatigue, uveitis, and peripheral arthritis pre…
Ultrasound Biomarkers for Sarcopenia: What Can We Tell So Far?
2020
AbstractSarcopenia is a disease characterized by decreased skeletal muscle mass, strength, and loss of function that can impair quality of life and increase physical disability, adverse metabolic effects, and mortality. This review familiarizes the reader with ultrasound (US)-based biomarkers for sarcopenia with a discussion of these topics: why assessing sarcopenia is relevant for radiologists, how to evaluate muscle structure with US, the current challenges or pitfalls of these biomarkers, and the implications of all the available evidence. It summarizes the most up-to-date literature on the pathophysiology behind the use of these US-based biomarkers, the biomarkers themselves, and a prot…
A systematic review of immersive virtual reality applications for higher education: Design elements, lessons learned, and research agenda
2019
Abstract Researchers have explored the benefits and applications of virtual reality (VR) in different scenarios. VR possesses much potential and its application in education has seen much research interest lately. However, little systematic work currently exists on how researchers have applied immersive VR for higher education purposes that considers the usage of both high-end and budget head-mounted displays (HMDs). Hence, we propose using systematic mapping to identify design elements of existing research dedicated to the application of VR in higher education. The reviewed articles were acquired by extracting key information from documents indexed in four scientific digital libraries, whi…
People with Disabilities and Disasters
2017
Investigations have collectively established that disasters affect people with disabilities both disproportionately and negatively. In addition, perceived disability status is often associated with stigma, creating a separate and unique barrier across societies and cultures, which can augment vulnerability to disasters. Relevant research is reviewed by academic genesis areas in this chapter, namely; 1) disaster-focused research, 2) mental health, 3) epidemiology and public health, and 4) disability studies. Research emanating from these disciplines reflects different epistemological assumptions about disability as well as varying knowledge about disability as a social and cultural const…