Search results for "GENI"
showing 10 items of 6843 documents
Lack of Dystrophin Affects Bronchial Epithelium inmdxMice
2016
Mild exercise training may positively affect the course of Duchenne Muscular Dystrophy (DMD). Training causes mild bronchial epithelial injury in both humans and mice, but no study assessed the effects of exercise in mdx mice, a well known model of DMD. The airway epithelium was examined in mdx (C57BL/10ScSn-Dmdmdx) mice, and in wild type (WT, C57BL/10ScSc) mice either under sedentary conditions (mdx-SD, WT-SD) or during mild exercise training (mdx-EX, WT-EX). At baseline, and after 30 and 45 days of training (5 d/wk for 6 weeks), epithelial morphology and markers of regeneration, apoptosis, and cellular stress were assessed. The number of goblet cells in bronchial epithelium was much lower…
Interaction of allopurinol with phenprocoumon in man.
1977
Conditions in two patients on long-term phenprocoumon (Marcumar®) treatment are reported who had signs of phenprocoumon overdosage when given simultaneously allopurinol. The determination of phenprocoumon plasma concentrations in one patient showed that phenprocoumon accumulates for several weeks during treatment with allopurinol. Signs of phenprocoumon overdosage thus can appear long time after starting allopurinol treatment.
Reduction rate by decompression as a treatment of odontogenic cysts
2017
Background: Odontogenic cysts are defined as those cysts that arise from odontogenic epithelium and occur in the tooth-bearing regions of the jaws. Cystectomy, marsupialization or decompression of odontogenic cyst are treatment approach to this pathology. The aim of this study was to evaluate the effectiveness of the decompression as the primary treatment of the cystic lesions of the jaws and them reduction rates involving different factors. Material and Methods: 23 patients with odontogenic cysts of the jaws, previously diagnosed by anatomical histopathology (follicular cysts (7) and radicular cysts (16)) underwent decompression as an initial treatment. Clinical examination and pre and pos…
Cementless total hip replacement with subtrochanteric femoral shortening for severe developmental dysplasia of the hip.
2003
Total joint replacement in patients suffering from developmental dysplasia of the hip poses specific technical difficulties due to insufficient bone stock at the site of the original and secondary acetabulum and a narrow, cranially displaced proximal femur. Twelve hips with severe congenital dislocation (4 Crowe type II, 5 type III, 3 type IV) were treated with cementless, porous structured total hip replacement. The cup was implanted at the anatomic height, a femoral segment was resected below the minor trochanter to reduce the femoral component in all cases. One femoral component was exchanged for a longer stem after 2 months due to insufficient fit and fill. After a mean follow-up of 5.1…
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…
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…
Decompression induces inflammation but do not modify cell proliferation and apoptosis in odontogenic keratocyst
2022
Background Odontogenic keratocyst (OKC) is a development cyst, of odontogenic origin, that differs from other entities by its infiltrating and aggressive biological behavior. Among conservative treatments for large lesions, surgical decompression stands out, with a variable recurrence rate. Aim: To evaluate the histological effects of decompression treatment on OKC, including cell proliferation and apoptosis of epithelial cyst. Material and Methods 21 OKC cases were included. Samples were taken before and after surgical decompression for histological evaluation and immunohistochemical staining of Ki-67, MCM4/7, Bax and Bcl2. Data were analyzed and compared using Student’s t and Wilcoxon tes…
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…
Gastric emptying, small intestinal transit and fecal output in dystrophic (mdx) mice.
2009
Duchenne muscular dystrophy (DMD), which results from deficiency in dystrophin, a sarcolemma protein of skeletal, cardiac and smooth muscle, is characterized by progressive striated muscle degeneration, but various gastrointestinal clinical manifestations have been observed. The aim was to evaluate the possible impact of the dystrophin loss on the gastrointestinal propulsion in mdx mice (animal model for DMD). The gastric emptying of a carboxymethyl cellulose/phenol red dye non-nutrient meal was not significantly different at 20 min from gavaging between wild-type and mdx mice. The intestinal transit and the fecal output were significantly decreased in mdx versus normal animals, although th…
Dystroglycan regulates structure, proliferation and differentiation of neuroepithelial cells in the developing vertebrate CNS.
2007
AbstractIn the developing CNS α- and β-dystroglycan are highly concentrated in the endfeet of radial neuroepithelial cells at the contact site to the basal lamina. We show that injection of anti-dystroglycan Fab fragments, knockdown of dystroglycan using RNAi, and overexpression of a dominant-negative dystroglycan protein by microelectroporation in neuroepithelial cells of the chick retina and optic tectum in vivo leads to the loss of their radial morphology, to hyperproliferation, to an increased number of postmitotic neurons, and to an altered distribution of several basally concentrated proteins. Moreover, these treatments also altered the oriented growth of axons from retinal ganglion c…