Search results for "Axia"
showing 10 items of 638 documents
12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech.
2012
Speech sound disorders are heterogeneous conditions, and sporadic and familial cases have been described. However, monogenic inheritance explains only a small proportion of such disorders, in particular in cases with childhood apraxia of speech (CAS). Deletions of <5 Mb involving the 12p13.33 locus is one of the least commonly deleted subtelomeric regions. Only four patients have been reported with such a deletion diagnosed with fluorescence in situ hybridisation telomere analysis or array CGH. To further delineate this rare microdeletional syndrome, a French collaboration together with a search in the Decipher database allowed us to gather nine new patients with a 12p13.33 subtelomeric or …
Mandibular-pelvic-patellar syndrome (mpp) is a novel pitx1-related disorder due to alteration of pitx1 transactivation ability
2020
International audience; PITX1 is a homeobox transcription factor essential for hindlimb morphogenesis. Two PITX1-related human disorders have been reported to date: PITX1 ectopic expression causes Liebenberg syndrome, characterized by malformation of upper limbs showing a "lower limb" appearance; PITX1 deletions or missense variation cause a syndromic picture including clubfoot, tibial hemimelia, and preaxial polydactyly. We report two novel PITX1 missense variants, altering PITX1 transactivation ability, in three individuals from two unrelated families showing a distinct recognizable autosomal dominant syndrome, including first branchial arch, pelvic, patellar, and male genital abnormaliti…
Novel missense mutation in the ATP1A2 gene associated with atypical sporapedic hemiplegic migraine
2019
Hemiplegic migraine (HM) is a rare subtype of migraine with aura in which attacks include transient motor weakness or hemiparesis that can last several days. HM is linked to mutations in three different genes, CACNA1A, ATP1A2 and SCN1A, which encode for ion transporters. The clinical spectrum includes atypical symptoms such as impaired consciousness, epileptic seizures, permanent cerebellar ataxia or mental retardation. We describe a novel mutation found in the ATP1A2 gene in a patient with late-onset HM. His attacks were characterised by motor weakness associated with altered mental status, diplopia and ataxia. He also showed up MRI abnormalities and incomplete response to prophylactic the…
Reliability, validity and feasibility of nail ultrasonography in psoriatic arthritis
2016
International audience; Objective: To determine the feasibility, reliability and validity of nails ultrasonography in psoriatic arthritis as an outcome measure.Methods: Pilot prospective single-centre study of eight ultrasonography parameters in B mode and power Doppler concerning the distal interphalangeal (DIP) joint, the matrix, the bed and nail plate. Intraobserver and inter-observer reliability was evaluated for the seven quantitative parameters (ICC and kappa). Correlations between ultrasonography and clinical variables were searched to assess external validity. Feasibility was assessed by the time to carry out the examination and the percentage of missing data.Results: Twenty-seven p…
Comparative multiplex dosage analysis in spinocerebellar ataxia type 2 patients.
2013
We developed a new application of comparative multiplex dosage analysis (CMDA) for evaluation of the ataxin 2 gene. Expansions of the triplet CAG can cause spinocerebellar ataxia type 2 (SCA2), a neurodegenerative disease with an autosomal-dominant mode of inheritance. Molecular diagnosis of SCA2 is routinely based on the use of conventional PCR to detect the CAG expansion. However, PCR does not amplify an allele with an expansion of many triplets (>80), which is typically found in infantile and juvenile forms of SCA2, thus leading to false negatives. We propose the analysis of the ATXN2 gene by CMDA to complement existing methods currently used for the detection of large expansions of the …
Anisometropia of spherical equivalent and astigmatism among myopes: a 23-year follow-up study of prevalence and changes from childhood to adulthood.
2017
Purpose To study anisometropia of spherical equivalent and astigmatism from the onset of myopia at school age to adulthood. Methods A total of 240 myopic schoolchildren (mean age 10.9 years), with no previous spectacles, were recruited during 1983–1984 to a randomized 3-year clinical trial of bifocal treatment of myopia. Examinations with subjective cyclopedic refraction were repeated 3 years later (follow-up 1) for 238 subjects and thereafter at the mean ages of 23.2 (follow-up 2) and 33.9 years (follow-up 3) for 178 and 134 subjects. After exclusions, the 102 subjects who attended all three follow-ups were included in the analyses. Corneal refractive power and astigmatism and anterior cha…
TORC1 Inhibition by Rapamycin Promotes Antioxidant Defences in a Drosophila Model of Friedreich’s Ataxia
2015
Friedreich's ataxia (FRDA), the most common inherited ataxia in the Caucasian population, is a multisystemic disease caused by a significant decrease in the frataxin level. To identify genes capable of modifying the severity of the symptoms of frataxin depletion, we performed a candidate genetic screen in a Drosophila RNAi-based model of FRDA. We found that genetic reduction in TOR Complex 1 (TORC1) signalling improves the impaired motor performance phenotype of FRDA model flies. Pharmacologic inhibition of TORC1 signalling by rapamycin also restored this phenotype and increased the lifespan and ATP levels. Furthermore, rapamycin reduced the altered levels of malondialdehyde + 4-hydroxyalke…
Mesenchymal Stem Cells Improve Motor Functions and Decrease Neurodegeneration in Ataxic Mice
2014
The main objective of this work is to demonstrate the feasibility of using bone marrow-derived stem cells in treating a neurodegenerative disorder such as Friedreich's ataxia. In this disease, the dorsal root ganglia of the spinal cord are the first to degenerate. Two groups of mice were injected intrathecally with mesenchymal stem cells isolated from either wild-type or Fxntm1Mkn/Tg(FXN)YG8Pook (YG8) mice. As a result, both groups presented improved motor skills compared to nontreated mice. Also, frataxin expression was increased in the dorsal root ganglia of the treated groups, along with lower expression of the apoptotic markers analyzed. Furthermore, the injected stem cells expressed th…
No deterioration in health-related quality of life in patients with axial spondyloarthritis followed for 5 years in ordinary outpatient clinics in th…
2019
Abstract Background Axial spondyloarthritis (ax-SpA) causes pain, fatigue, stiffness, loss of physical function and impaired health-related quality of life (HRQOL). Aims The study aimed to explore the changes in HRQOL over 5 years in patients with ax-SpA and to identify baseline predictors associated with changes in HRQOL assessed using three HRQOL measures. Methods Demographic, disease, medication and HRQOL data were collected at baseline and at 5-year follow-up. HRQOL was assessed using SF-6D, 15D and SF-36. Analyses involved McNemar, independent paired t tests and multiple regression. Results In the 240 (women 31%, men 69%) ax-SpA patients assessed (mean age 46 years), measures reflectin…
Anterior Segment Biometry and Their Correlation with Corneal Biomechanics in Caucasian Children.
2018
Purpose: To assess the relationship between the corneal biomechanical parameters and the anterior segment parameters in Caucasian children. Methods: This study included 293 eyes from 293 healthy children aged between 6 and 17 years. Corneal hysteresis (CH) and corneal resistance factor (CRF) were evaluated with the Ocular Response Analyzer, axial length (AL) with IOLMaster and the anterior segment with Pentacam. Anterior segment parameters obtained were the following: central corneal thickness (CCT), corneal volume (CV), anterior chamber depth (ACD), anterior chamber volume (ACV) and mean anterior and posterior keratometry. Two multiple linear regression models were constructed to assess th…