Search results for "GENI"
showing 10 items of 6843 documents
Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data
2017
Background Alterations in GFER gene have been associated with progressive mitochondrial myopathy, congenital cataracts, hearing loss, developmental delay, lactic acidosis and respiratory chain deficiency in 3 siblings born to consanguineous Moroccan parents by homozygosity mapping and candidate gene approach (OMIM#613076). Next generation sequencing recently confirmed this association by the finding of compound heterozygous variants in 19-year-old girl with a strikingly similar phenotype, but this ultra-rare entity remains however unknown from most of the scientific community. Materials and methods Whole exome sequencing was performed as part of a "diagnostic odyssey" for suspected mitochon…
B and T cell immune responses elicited by the Comirnaty® COVID-19 vaccine in nursing home residents
2021
Objectives The immunogenicity of the Comirnaty® COVID-19 vaccine is understudied in elderly people with comorbidities. SARS-CoV-2-S-targeted antibody and T cell responses following full vaccination were assessed in nursing home residents. Methods Sixty nursing home residents (44 female; age, 53-100 years), of whom 10 had previously been diagnosed of COVID-19, and 18 healthy controls (15 female; age, 27-54 years) were recruited. Pre- and post-vaccination blood specimens were available for quantitation of total antibodies binding SARS-CoV-2 S protein and enumeration of SARS-CoV-2-S-reactive IFN-γ CD4+ and CD8+ T cells by flow cytometry. Results The seroconversion rate in presumably SARS-CoV-2…
Colorectal cancer with microsatellite instability: Right-sided location and signet ring cell histology are associated with nodal metastases, and extr…
2021
Colorectal cancer (CRC) with microsatellite instability (MSI) accounts for 15-18 % of all CRCs and represents the category with the best prognosis. This study aimed at determining any possible clinical/pathological features associated with a higher risk of nodal metastasization in MSI-CRC, and at defining any possible prognostic moderators in this setting. All surgically resected CRCs of the last 20 years (mono-institutional series) with a PCR-based diagnosis of MSI, with and without nodal metastasis, have been retrieved for histological review, which was performed following WHO guidelines. Furthermore, the most important prognostic moderators have been investigated with a survival analysis…
Diagnostic genetic screening for assisted reproductive technologies patients with macrozoospermia
2017
International audience; Macrozoospermia is characterized by a high proportion of abnormal spermatozoa with enlarged heads. So far, it has been associated with mutations only in the Aurora Kinase C gene (AURKC) in some cases. Although many publications have reported failure to conceive in couples with macrozoospermia, a few others have described successful pregnancies, thus raising questions as to whether ICSI and AURKC genetic screening should be recommended in all patients with macrozoospermia. First, we report on two monozygotic twins presenting macrozoospermia for whom the genetic status was explored (Aurora Kinase C sequencing) and whole semen and gradient-selected spermatozoa were anal…
Correlation between the DNA fragmentation index (DFI) and sperm morphology of infertile patients
2020
Abstract Purpose To evaluate the correlation between the DNA Fragmentation Index (DFI) and sperm morphology in patients undergoing ICSI, as a predictive parameter in reproductive outcomes. Methods A retrospective study was conducted on 125 infertile patients enrolled in a fertility clinic. Seminal characteristics were measured following the WHO guidelines (2010) for the examination of the seminal fluid. After collecting motile sperm population by pellet swim up, DFI was calculated and simultaneously associated with sperm morphology using in situ TUNEL assay and an image analyzer software in at least 250 spermatozoa for each patient. Results All subjects were divided into two groups accordin…
Molecular characterization of congenital myasthenic syndromes in Spain.
2017
Congenital myasthenic syndromes (CMS) are a heterogeneous group of genetic disorders, all of which impair neuromuscular transmission. Epidemiological data and frequencies of gene mutations are scarce in the literature. Here we describe the molecular genetic and clinical findings of sixty-four genetically confirmed CMS patients from Spain. Thirty-six mutations in the CHRNE, RAPSN, COLQ, GFPT1, DOK7, CHRNG, GMPPB, CHAT, CHRNA1, and CHRNB1 genes were identified in our patients, with five of them not reported so far.. These data provide an overview on the relative frequencies of the different CMS subtypes in a large Spanish population. CHRNE mutations are the most common cause of CMS in Spain, …
Double Retrotransverse Foramen of Atlas (C1)
2018
Background The retrotransverse foramen is a nonmetric variant of C1 that consists of an abnormal accessory foramen on the posterior root of the transverse process. Case Description During a study on the prevalence of the retrotransverse foramen in 150 dry C1 vertebrae, we observed an exceptional C1 (0.67%) with a right double retrotransverse foramen of the 14 C1 vertebrae (9.3%). This has not been reported previously in the literature. No osteogenic reaction and no degenerative signs were observed in this C1 with the double retrotransverse foramen. Conclusions Neurosurgeons should be aware of the possible presence of the “conventional” retrotransverse foramen and the “exceptional” double re…
Validity, reliability, and sensitivity to motor impairment severity of a multi-touch app designed to assess hand mobility, coordination, and function…
2021
[EN] Background: The assessment of upper-limb motor impairments after stroke is usually performed using clinical scales and tests, which may lack accuracy and specificity and be biased. Although some instruments exist that are capable of evaluating hand functions and grasping during functional tasks, hand mobility and dexterity are generally either not specifically considered during clinical assessments or these examinations lack accuracy. This study aimed to determine the convergent validity, reliability, and sensitivity to impairment severity after a stroke of a dedicated, multi-touch app, named the Hand Assessment Test. Methods: The hand mobility, coordination, and function of 88 individ…
Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.
2018
Abstract PHARC (Polyneuropathy, Hearing loss, Ataxia, Retinitis pigmentosa and Cataracts) (MIM# 612674 ) is an autosomal recessive neurodegenerative disease caused by mutations in the ABHD12 gene. We evaluated two Spanish siblings affected with pes cavus, sensorimotor neuropathy, hearing loss, retinitis pigmentosa and juvenile cataracts in whom the genetic test of ABHD12 revealed a novel homozygous frameshift mutation, c.211_223del (p.Arg71Tyrfs*26). The earliest clinical manifestation in these patients was a demyelinating neuropathy manifested with a Charcot-Marie-Tooth phenotype over three decades. Progressive hearing loss, cataracts and retinitis pigmentosa appeared after the age of 30. …