Search results for "GENETICS"
showing 10 items of 12494 documents
Lower Limb Dominance, Morphology, and Sonographic Abnormalities of the Patellar Tendon in Elite Basketball Players: A Cross-Sectional Study.
2019
Context Patellar tendinopathy is common in basketball players, and structural ultrasound abnormalities can be found in symptomatic and asymptomatic tendons. Lower limb dominance may also be a critical load factor, potentially leading to overloading of the patellar tendon. Objective To describe and compare the prevalence by lower limb dominance of patellar tendons with structural and vascular abnormalities and to describe the morphologic measures of tendons without abnormalities among adult male elite basketball players. Design Cross-sectional study. Setting Medical center of a professional basketball team in the Spanish league. Patients or Other Participants A total of 73 adult male elite …
HLA Class II Differentiates Between Thyroid and Polyglandular Autoimmunity.
2015
The HLA class II genes are susceptibility genes for autoimmune endocrine diseases; however, scarce data are available pertaining to the determinants of genetic susceptibility to polyglandular autoimmunity (PGA). A total of 300 consecutive and unselected patients with either PGA or monoglandular autoimmune thyroid disease (AITD) and 100 healthy control subjects were genotyped for the HLA class II DRB1, -DQA1, and -DQB1 alleles. Compared to patients with AITD and controls, the HLA-DRB1*03 (pc =0.001), *04 (pc<0.001), -DQA1*03 (pc<0.001), and -DQB1*02 (pc =0.001) alleles were increased in patients with PGA. When dividing patients with Hashimoto's thyroiditis (HT) into those with PGA (PGA-HT) v…
Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies
2004
We recently identified mutations in the fukutin related protein (FKRP) gene in patients with congenital muscular dystrophy type 1C (MDC1C) and limb girdle muscular dystrophy type 2I (LGMD2I). The sarcolemma of these patients typically displays an immunocytochemical reduction of alpha-dystroglycan. In this report we extend these observations and report a clear correlation between the residual expression of alpha-dystroglycan and the phenotype. Three broad categories were identified. Patients at the severe end of the clinical spectrum (MDC1C) were compound heterozygote between a null allele and a missense mutation or carried two missense mutations and displayed a profound depletion of alpha-d…
Ultrasound evaluation of joint damage and disease activity in adult patients with severe haemophilia A using the HEAD‐US system
2021
Introduction The Haemophilia Early Arthropathy Detection with Ultrasound (HEAD-US) system and scoring scale has proven to be an accurate and time-efficient imaging method for identifying joint damage in patients with haemophilia. Aim Observational, multicentre, cross-sectional study conducted in 8 centres in Spain that assessed the joint status of adult patients with severe haemophilia A (SHA) using HEAD-US. Methods Joint status of the elbow, knee and ankle was evaluated in adults with SHA receiving on-demand (OD) treatment, or primary (PP), secondary (SP), tertiary (TP) or intermittent (IP) prophylaxis. Results Of the 95 patients enrolled, 87 received prophylaxis (6.3% PP, 38.9% SP, 43.2% …
Analysis of HLA-DRB1,DQA1,DQB1 haplotypes in Sardinian centenarians
2008
Some genetic determinants of longevity might reside in those polymorphisms for the immune system genes that regulate immune responses. Many longevity association studies focused their attention on HLA (the human MHC) polymorphisms, but discordant results have been obtained. Sardinians are a relatively isolate population and represent a suitable population for association studies. Some HLA-DR and DQ alleles form very stable haplotypes with a strong linkage disequilibrium. In a previous study on Sardinian centenarians we have suggested that HLA-DRB1 *15 allele might be marginally associated to longevity. HLA-DR,DQ haplotypes are in strong linkage disequilibrium and well conserved playing a ro…
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenital
2022
BackgroundArthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the genetic diagnosis rates of AMC, to evaluate the added value of whole exome sequencing (WES) compared with targeted exome sequencing (TES) and to identify new genes in 315 unrelated undiagnosed AMC families.MethodsSeveral genomic approaches were used including genetic mapping of disease loci in multiplex or consanguineous families, TES then WES. Sanger sequencing was performed to identify or validate variants.ResultsWe achieved disease gene identification in 52.7% of AMC index pati…
Tumour necrosis factor in rheumatoid arthritis and osteoarthritis patients in blood serum and synovial fluid
2010
Rheumatoid arthritis (RA) is a chronic autoimmune disease of unknown cause which affects the ability of elderly people to work. There is strong evidence to suggest that inflammatory mediators such as tumour necrosis factor α (TNFα) and interleukin 1 (IL1) have a critical role in the pathogenesis of RA. Biological treatment blocks pathological pathways in the actions of these proinflammatory cytokines. The aim of this study was …
Sense and Antisense DMPK RNA Foci Accumulate in DM1 Tissues during Development.
2015
International audience; Myotonic dystrophy type 1 (DM1) is caused by an unstable expanded CTG repeat located within the DMPK gene 3'UTR. The nature, severity and age at onset of DM1 symptoms are very variable in patients. Different forms of the disease are described, among which the congenital form (CDM) is the most severe. Molecular mechanisms of DM1 are well characterized for the adult form and involve accumulation of mutant DMPK RNA forming foci in the nucleus. These RNA foci sequester proteins from the MBNL family and deregulate CELF proteins. These proteins are involved in many cellular mechanisms such as alternative splicing, transcriptional, translational and post-translational regul…
Osteoprotegerin: multiple partners for multiple functions.
2013
Osteoprotegerin (OPG) is an essential secreted protein in bone turnover due to its role as a decoy receptor for the Receptor Activator of Nuclear Factor-kB ligand (RANKL) in the osteoclasts, thus inhibiting their differentiation. However, there are additional ligands of OPG that confer various biological functions. OPG can promote cell survival, cell proliferation and facilitates migration by binding TNF-related apoptosis inducing ligand (TRAIL), glycosaminoglycans or proteoglycans. A large number of in vitro, pre-clinical and clinical studies provide evidences of OPG involvement in vascular, bone, immune and tumor biology. This review describes an overview of the different OPG ligands regu…
FRI0194 Is There an Association Between Spondyloarthritis and Antibodies Towards Borrelia, Ehrlichia and Chlamydia Species?
2015
Background Several studies suggested that certain microorganisms might contribute to initiation and perpetuation of spondyloarthritis (SpA). Objectives To investigate IgG and IgM antibodies towards Borrelia burgdorferi (Bb), Borrelia garinii (Bg), Borrelia afzelii (Ba), Ehrlichia spp. (Ehr), Chlamydia trachomatis (Ct), and Chlamydia pneumoniae (Cp) in SpA patients, low back pain patients, and healthy subjects and to elucidate whether previous infections could play a role in the onset of SpA. Methods Data collection was based on persons aged 18-40 years referred with low back pain for ≥3 months. They were examined with MRI of the spine and sacroiliac joints, CRP, HLA-B27, and clinical SpA fe…