Search results for "ToP"
showing 10 items of 17685 documents
Expanded CCUG repeat RNA expression in Drosophila heart and muscle trigger Myotonic Dystrophy type 1-like phenotypes and activate autophagocytosis ge…
2016
AbstractMyotonic dystrophies (DM1–2) are neuromuscular genetic disorders caused by the pathological expansion of untranslated microsatellites. DM1 and DM2, are caused by expanded CTG repeats in the 3′UTR of the DMPK gene and CCTG repeats in the first intron of the CNBP gene, respectively. Mutant RNAs containing expanded repeats are retained in the cell nucleus, where they sequester nuclear factors and cause alterations in RNA metabolism. However, for unknown reasons, DM1 is more severe than DM2. To study the differences and similarities in the pathogenesis of DM1 and DM2, we generated model flies by expressing pure expanded CUG ([250]×) or CCUG ([1100]×) repeats, respectively, and compared …
Role of Human Leukocyte Antigens (HLA) in Autoimmune Diseases
2018
Since the discovery of HLA 60 years ago, it has contributed to the understanding of the immune system as well as of the pathogenesis of several diseases. Aside from its essential role in determining donor-recipient immune compatibility in organ transplantation, HLA genotyping is meanwhile performed routinely as part of the diagnostic work-up of certain autoimmune diseases. Considering the ability of HLA to influence thymic selection as well as peripheral anergy of T cells, its role in the pathogenesis of autoimmunity is understandable. The aim of this paper is to provide a brief overview of the role and current clinical relevance of HLA-B27 in spondyloarthritis and HLA-B51 in Behçet's disea…
miR-7 Restores Phenotypes in Myotonic Dystrophy Muscle Cells by Repressing Hyperactivated Autophagy
2019
International audience; Unstable CTG expansions in the 3' UTR of the DMPK gene are responsible for myotonic dystrophy type 1 (DM1) condition. Muscle dysfunction is one of the main contributors to DM1 mortality and morbidity. Pathways by which mutant DMPK trigger muscle defects, however, are not fully understood. We previously reported that miR-7 was downregulated in a DM1 Drosophila model and in biopsies from patients. Here, using DM1 and normal muscle cells, we investigated whether miR-7 contributes to the muscle phenotype by studying the consequences of replenishing or blocking miR-7, respectively. Restoration of miR-7 with agomiR-7 was sufficient to rescue DM1 myoblast fusion defects and…
HLA-B27-restricted T cells from patients with ankylosing spondylitis recognize peptides from B*2705 that are similar to bacteria-derived peptides
2003
SUMMARY Ankylosing spondylitis (AS) is an inflammatory systemic disease affecting the spine, sacroiliacal and peripheral joints. Although the aetiology of AS remains unknown, the strong association with the HLA-B27 allele might reflect directly a detrimental effect of the HLA-B27 molecule itself, resulting from its potential capability to present ‘arthritogenic’ peptides to CD8+ T cells. Because some forms of SpA are triggered by enterobacterial infection, such arthritogenic peptides might originate from autologous and/or bacterial proteins triggering cross-reactive CD8+ T cell clones. Intriguingly, two peptides from the second extracellular domain of HLA-B*2705 share sequence homologies wi…
The early changes in trunk muscle strength and disability following lumbar spine fusion
2012
To analyze trunk muscle function pre- and postoperatively in patients undergoing lumbar spine fusion. Associations between changes in trunk muscle strength and disability were also studied.A total of 114 patients undergoing lumbar spine fusion participated in the study. The flexion and extension strength of the trunk was measured preoperatively and 3 months after surgery using a strain-gauge dynamometer. Disability and pain during the past week was evaluated with the Oswestry disability index (ODI) and visual analog scale (VAS), respectively.Preoperative trunk extension and flexion strength levels were 319 N and 436 N in males, respectively, and 160 N and 214 N in females, respectively. In …
Treatment of Knee Osteoarthritis with Bone Marrow-Derived Mononuclear Cell Injection: 12-Month Follow-up.
2018
Objectives To evaluate the main symptoms of knee osteoarthritis (OA) and tissue structure changes after a single dose bone marrow–derived mononuclear cell (BM MNC) intra articular injection. Case series study. Patients with knee OA Kellgren Lawrence (K-L) grade II and III received 1 injection of BM MNC. The clinical results were analyzed with the Knee injury and Osteoarthritis Outcome Score (KOOS) and Knee Society Score (KSS) before, 3, 6, and 12 months after injection. Radiological evaluation was performed with a calibrated x-ray and the magnetic resonance (MR) imaging before and 6 to 7 months postinjection. Results A total of 34 knees were treated with BM MNC injections. Mean (±SD) age of…
Psychological variables and temporomandibular disorders: distress, coping, and personality.
2004
Abstract Objective This study analyzes the psychological variables of distress, personality, and coping that are related to the diagnosis based on the Research Diagnostic Criteria for temporomandibular disorder. Study design An age and sex-matched controlled study conducted with a convenience sample (n = 89) in a tertiary care facility. Results The MANCOVA between the muscular (n = 47), articular (n = 42), and control groups (n = 100) showed that the muscular group differed from the control group, obtaining higher levels of distress, anxiety, and depression, and minor use of positive reinterpretation and humor as coping strategies; the articular group also showed higher distress, less posit…
Surgical repair of acute Achilles tendon rupture with an end-to-end tendon suture and tendon flap.
2015
Abstract Background Achilles tendon ruptures are becoming more common. Complications after open or minimally invasive surgery are: recurrent rupture (2–8%), wound breakdown, deep infections, granuloma, and fistulas. The authors expose their experience with a personal technique. Materials In 8 patients with acute rupture of Achilles tendon the surgery was performed at least 25 days after trauma. Clinical exam and MR demonstrated in all case a total lesion of tendon. After a posterolateral skin incision the tendon stumps were debrided and suture in end-to-end fashion. A tendon flap was harvested from the proximal part of the tendon, in order to protect and reinforce the suture itself. A plast…
A ten-year follow-up of the Reflection cementless acetabular component.
2008
We reviewed the long-term results at ten to 12 years of 118 total hip replacements in 109 patients using a second-generation hemispherical cementless acetabular component (Reflection) designed to address the problem of backside wear. Five patients (five hips) died and six patients (seven hips) were lost to follow-up. The remaining 98 patients (106 hips) had a mean age of 62.9 years (34.0 to 86.2) A rate of revision for aseptic loosening of 0.9%, and predictable results were found with respect to radiological evidence of fixation, lack of pain, walking ability, range of movement and function. One component was revised for aseptic loosening, and of the 101 hips (95.2%) that did not have a rev…
Osteoprotegerin (OPG) and RANKL expression and distribution in developing human craniomandibular joint.
2005
Abstract During embryogenesis the bone tissue of craniomandibular joint (CMJ) is formed through two pathways: intramembranous ossification and endochondral ossification. The development process is under the control of regulatory factors.The osteoprotegerin (OPG) and the receptor activator of nuclear factor (NF)-κB ligand are key regulators of osteoclastogenesis. The aim of this study is the localization of OPG and RANKL mRNA and protein in the foetal CMJ by immunohistochemistry (IHC) and in situ hybridization (ISH). The main results were: OPG and RANKL mRNA and protein were co-localized in the same cell types; OPG and RANKL were specially immunolocated in osteogenic cells; immunolabeling wa…