Search results for "WES"
showing 10 items of 1585 documents
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…
Expression of 60-kD Heat Shock Protein Increases during Carcinogenesis in the Uterine Exocervix
2002
<i>Objectives:</i> The aim of the present study was to determine the presence and expression of the 60-kD heat shock protein (HSP60) in the dysplasia-carcinoma sequence in the uterine exocervix and to evaluate its diagnostic and prognostic significance. <i>Methods and Results:</i> We performed Western blot and immunohistochemical analyses on biopsies from 40 cases, consisting of 10 normal exocervical biopsies, 10 low-grade squamous intraepithelial lesions (L-SIL), 10 high-grade squamous intraepithelial lesions (H-SIL) and 10 cancerous exocervices (G2 grade). The immunohistochemical results were quantified by computer-assisted image analysis. Western blot analysis sho…
Preliminary Experience with a Novel System of Facet Fixation to Treat Patients with Lumbar Degenerative Disease. A New Perspective in Minimally Invas…
2017
Purpose We report our experience with a novel surgical device for the treatment of lumbar degenerative microinstability. Facet Wedge (DePuy Synthes, Raynham, Massachusetts, United States) is a novel technique of intra-articular lumbar facet fixation that provides a minimally invasive alternative to standard posterior fixation. Materials and Methods From November 2014 to July 2015, 38 patients underwent single-level Facet Wedge implantation. The main surgical indications included herniated disk (18 patients), spinal canal and foraminal stenosis (14 patients), and Meyerding grade I degenerative spondylolisthesis (6 patients). All the patients showed radiologic signs of microinstability: hype…
Reconstruction of vertebral body in thoracolumbar AO type A post-traumatic fractures by balloon kyphoplasty: a series of 85 patients with a long foll…
2019
Background Traumatic fractures of the thoracolumbar spine are common injuries, accounting for approximately 90% of all spinal traumas. Optimal management of these fractures still gives rises to much debate in the literature. Currently, one of the treatment options in young patients with stable traumatic vertebral fractures is conservative treatment using braces. Kyphoplasty as a minimally invasive procedure has been shown to be effective in stabilizing vertebral body fractures, resulting in immediate pain relief and improved physical function with early return to work activity. The aim of the study is to report VAS, ODI scores, and kyphosis correction following treatment. Methods This is a …
The unspoken pressure of tradition : East Asian classical musicians in western classical music
2013
Itäaasialaisia klassisia muusikoita käsittelevät artikkelit ovat olleet yleisiä eurooppalaisissa klassisen musiikin lehdissä siitä lähtien kun itäaasialaiset alkoivat yhä suuremmassa määrin voittaa kansainvälisiä musiikkikilpailuita ja luoda kansainvälistä uraa 1900-luvun viimeisinä vuosikymmeninä. Läntinen taidemusiikki on kansainvälistymässä aikana, jolloin pelot klassisen musiikin kuolemasta ovat myös päässeet otsikoihin Euroopassa. Itäaasialaiset muusikot työskentelevät kompleksisella kulttuurien kentällä, jossa heidän muusikkoutensa on jatkuvasti arvostelun alaisena. Tämän tutkimuksen tarkoitus oli saada selville, miten itäaasialaiset klassiset muusikot ja heidän kulttuurinen identitee…
Myopathy with hexagonally cross-linked crystalloid inclusions: delineation of a clinico-pathological entity.
2010
A novel myopathy characterized by hexagonally cross-linked tubular arrays has been reported in five patients. We studied the clinical and histopathological features of five additional unrelated patients with this myopathy. Patients experienced exercise intolerance with exercise-induced myalgia and weakness, without rhabdomyolysis. One patient additionally presented mild permanent pelvic girdle muscle weakness. Age at onset varied between 13 and 56 years. The inclusions were eosinophilic on H and E, bright red with modified Gomori’s trichrome stains, present in type 2 fibers, and revealed immunoreactivity selectively for a caveolin-3-antibody. Ultrastructurally, the inclusions showed a highl…
Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5.
2012
Objective: Description of 8 new ANO5 mutations and significant expansion of the clinical phenotype spectrum associated with previously known and unknown mutations to improve diagnostic accuracy. Methods: DNA samples of 101 patients in 95 kindreds at our quaternary referral center in Finland, who had undetermined limb-girdle muscular dystrophy (LGMD), calf distal myopathy, or creatine kinase (CK) elevations of more than 2,000 IU/L, were selected for ANO5 genetic evaluation, and the clinical findings of patients with mutations were retrospectively analyzed. Results: A total of 25 patients with muscular dystrophy caused by 11 different recessive mutations in the ANO5 gene were identified. The …
Phylogenetic diversity and affiliation of tropical African ectomycorrhizal fungi
2022
Ectomycorrhizal fungi form a mutualistic symbiosis with plant roots, and are key for nutrient cycling in many ecosystems. Here we study the ectomycorrhizal fungal communities in the Oueme Superieur reserve forest in Benin (West Africa). We use phylogenetic methods to test if the species from the study site are closer to other tropical African species than to species from other regions. The Oueme Superieur community was represented by nine Operational Taxonomic Units in Amanitaceae, one in Boletaceae, one in Cantharellaceae, one in Cortinariaceae, two in Inocybaceae, fourteen in Russulaceae and three in Sclerodermataceae. Of these thirty-one Operational Taxonomic Units, twenty had no record …
La métallurgie du fer au Sahel : Répartition spatiale de bas fourneaux au Sud-Ouest du Niger. Premiers résultats
2010
International audience; A 15 km à l'Est de Niamey (Sud-Ouest du Niger), une prospection pédestre exhaustive a permis de dénombrer plus de 4000 bas-fourneaux sur un bassin versant de 24 km². Ils sont identifiables par la présence de scories correspondant aux résidus de réduction du fer. Ce grand nombre de structures de réduction est lié au fonctionnement à usage unique des bas-fourneaux, qui est peu étudié dans la région ouest africaine. Les premières études de répartition spatiale montrent que l'implantation de ces bas-fourneaux est principalement soumise à la géomorphologie. Les forgerons ont installé leurs sites de réduction à proximité des talus de plateaux où affleure le minerai de fer …
Development of an ad hoc natural whey starter culture for the production of Vastedda della valle del Belìce cheese
2013
This work was aimed to characterize the autochthonous lactic acid bacteria (LAB) of PDO Vastedda della valle del Belìce cheeses, produced in several dairy factories, for the development of an ad hoc starter culture preparation for the production of this cheese. To this purpose, winter and spring productions were analysed, in order to isolate LAB adapted to perform the fermentation at low temperatures. Plate counts showed the total microbial counts (TMC) till levels of 9 -1almost 10 CFU g and all cheese samples were dominated by coccus LAB. Not all samples were positive for the presence of enterobacteria, but when they were found their concentrations were at similar levels in both seasons. A…