Search results for "Genetics"
showing 10 items of 12494 documents
Epidemiology of retinitis pigmentosa in the valencian community (Spain)
1995
The purposes of this study are to determine the frequencies of the different genetic forms of retinitis pigmentosa and to perform segregation analysis in the different genetic subtypes. Retinitis pigmentosa was diagnosed in 263 persons from 132 families. The frequency of the autosomal recessive type was the highest (31.8%) while the X-linked type was very rare (1.5%). The frequency of autosomal dominant type was 14.4% and the simplex cases constituted half of the total cases of RP registered in our community. In conclusion, in our population the high proportion of simplex cases and the low number of X-linked families are noticeable. The result of segregation analysis showed good agreement w…
THU0248 GLOMERULAR AND TUBULOINTERSTITIAL LESIONS IN PER-PROTOCOL REPEAT BUT NOT BASELINE KIDNEY BIOPSY PORTEND RELAPSE AND LONG-TERM RENAL FUNCTION …
2020
Background:In patients with lupus nephritis (LN), clinical response to treatment and renal histopathology have been shown to be discordant. No clinical or laboratory markers have to date been shown to reliably portend renal prognosis, in particular renal function impairment.Objectives:To investigate whether per-protocol repeat renal biopsies are predictive of LN relapses and long-term impairment of renal function.Methods:Forty-two patients with an incident biopsy-proven active proliferative (class III/IV ± V) LN from the LN database of the Université catholique de Louvain were included in the present retrospective study. Per-protocol repeat kidney biopsies were performed in all patients aft…
AB0266 METHOTREXATE AND CARDIOVASCULAR RISK IN RHEUMATIC DISEASES:A COMPREHENSIVE REVIEW
2021
Background:The management of inflammatory rheumatic disease has evolved in the last decade with the importance of the management of comorbidities. Methotrexate is the cornerstone of inflammatory rheumatic disease management, but its cardiovascular effects are still poorly understoodObjectives:To assess the cardiovascular impact of methotrexate in inflammatory rheumatic disease.Methods:A systematic review of the literature, following the prisma recommandations, was performed on the PubMed and Embase databases with the following keywords: (“Methotrexate”) AND (“cardiovascular”). We included papers written in English and including patients older than 18 years.Results:570 references were identi…
Subtypes of Depression: Latent Class Analysis in Spanish Old People with Depressive Symptoms
2020
Major depressive disorder (MDD) is one of the most disabling disorders and the one that most contributes to disability. When it occurs in older people, it is an additional burden to their potential physical and cognitive deficiencies, making MDD an important public health problem that supposes a large investment in health. There is a clear lack of consistency between the subtypes of depression found in the literature, ranging from two to seven classes, with three being the most commonly found non-melancholic, melancholic and psychotic, or putative psychotics. The aim of this research is to add knowledge to the profiles of depressive symptoms in a representative sample of older Spanish peopl…
Children’s physical activity and sedentary time compared using assessments of accelerometry counts and muscle activity level
2018
Background This research compared accelerometry (ACC)-derived and muscle electromyography (EMG)-based estimates of physical activity (PA) and sedentary time in typical PA tasks and during the daily lives of children. Methods Data was included from two exploratory studies. In Study I, 6–7-year-old children (n = 11, 64% girls) were assessed for eight PA tasks (walking, stair negotiation, climbing, crawling, swinging, balancing, trampoline jumping and a game of tag). In Study II, 7–9-year-old children (n = 14, 38% girls) were assessed for six PA tasks (walking, sitting, static squat, single leg hops, jump for height and standing long jump), and daily PA during one day with and one day without…
Relationship between maximal fat oxidation and oxygen uptake: comparison between type 2 diabetes patients and healthy sedentary subjects
2014
The contribution of fat oxidation to energy production during exercise is influenced by intensity of exercise. The aim of this study was to assess the relationship between the highest value of fat oxidation rate (FATmax) and the oxygen uptake (VO2) in sedentary type 2 diabetes (T2D) patients vs healthy sedentary subjects. Sedentary T2D patients and healthy sedentary subjects were evaluated to a graded exercise test, and oxygen uptake and fat oxidation rate were detected. Data show that in T2D patients fat oxidation rate is not impaired and the positive linear correlation between FATmax and both VO2 and VO2max suggests that even in T2D patients the muscle oxidative capacity might increase in…
Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC.
1994
We have analysed 118 families with inherited medullary thyroid carcinoma (MTC) for mutations of the RET proto-oncogene. These included cases of multiple endocrine neoplasia types 2A (MEN 2A) and 2B (MEN 2B) and familial MTC (FMTC). Mutations at one of 5 cysteines in the extracellular domain were found in 97% of patients with MEN 2A and 86% with FMTC but not in MEN 2B patients or normal controls. 84% of the MEN2A mutations affected codon 634. MEN 2A patients with a Cys634 to Arg substitution had a greater risk of developing parathyroid disease than those with other codon 634 mutations. Our data show a strong correlation between disease phenotype and the nature and position of the RET mutatio…
Mutations in the NKX2.5 Gene and the PAX8 Promoter in a Girl with Thyroid Dysgenesis
2011
Screening of the known candidate genes involved in thyroid organogenesis has revealed mutations in a small subset of patients with congenital hypothyroidism due to thyroid dysgenesis (TD).We studied a girl with TD who had mutations in two transcription factors involved in thyroid development.Sequencing analysis of candidate genes involved in thyroid gland development revealed a new paternally inherited heterozygous mutation in the NKX2.5 gene (S265R) and a new maternally inherited heterozygous mutation in the PAX8 promoter region (-456CT). Both parents and a brother, who was also heterozygous for both mutations, were phenotypically normal. Immunofluorescence microscopy showed a correct nucl…
The Impact of Epigallocatechin Gallate and Coconut Oil Treatment on Cortisol Activity and Depression in Multiple Sclerosis Patients
2021
(1) Background: Multiple sclerosis (MS) is pathogenically characterized by high oxidative stress and symptomatically by progressive muscle loss and increased body fat associated with the presence of depression. Epigallocatechin gallate (EGCG) (particularly present in green tea) and ketone bodies (in particular beta-hydroxybutyrate (BHB)), whose main source is coconut oil, have shown emotional benefits and body fat loss. The aim of this study was to assess the impact of EGCG and coconut oil on cortisol activity related to fat loss and depression in MS patients. (2) Methods: The study involved 51 MS patients who were randomly divided into an intervention group or a control group. The interven…
Eclectic Ocular Comorbidities and Systemic Diseases with Eye Involvement: A Review.
2016
Coexistence of several ocular diseases is more frequent than suspected. In spite of the refractive errors, one or more of the following can be detected simultaneously: glaucoma, cataracts, uveitis, age-related macular degeneration, and dry eyes. In addition, as people age, ocular comorbidities are much more usually seen. Specific diseases are openly acknowledged to affect the eyes and vision, such as diabetes mellitus, hypertension blood pressure, arthritis, hyperthyroidism, neurodegenerative disorders, hematologic malignancies, and/or systemic infections. Recent advances in early diagnosis and therapy of the ophthalmic pathologies have reinforced patient options to prevent visual impairmen…