1,721,106 research outputs found
Molecular testing for the study of non-syndromic hearing loss
No full textObjective: Hearing loss (HL) is the most common sensory disorder, with more than 460 millions of people affected worldwide. Among the genetic cases of HL, Non-Syndromic Hearing Loss (NSHL) accounts for the majority of them, and its diagnosis still represents a challenge for both clinicians and geneticists. In the present work we reviewed the current approaches employed for the genetic study of this heterogeneous disorder, providing specific recommendations intended to help scientists in reaching the correct molecular diagnosis in NSHL patients. Methods: A review of the most widespread approaches for the study of NSHL has been performed, with an eye on the common difficulties that geneticists and clinicians can encounter in the diagnostic process. Results: An accurate clinical evaluation together with the application of a multi-step approach, based on next-generation sequencing technologies and copy number variations assays, represents the most effective strategy for the molecular diagnosis of NSHL. Conclusion: NSHL is a high genetically heterogeneous condition that required proper technological platforms, as well as trained staff with a deep knowledge of its genetic background for the identification of the correct molecular diagnosis
Indici WISC-IV e profili cognitivi in bambini con DSA: uno studio empirico
No full textLo studio sull’intelligenza è sempre più orientato all’individuazione dei processi e meccanismi che la supportano, come la memoria di lavoro e la velocità di elaborazione, in popolazione con sviluppo tipico e atipico (Cornoldi et al., 2014). Il presente contributo si propone di verificare i profili cognitivi delineati dalla scala WISC-IV (Wechsler Intelligence Scale for Children, 2012), ottenuti da indici specifici (ICV, IRP, IML, IVE) e compositi (IAG e ICC), in 56 bambini (età media 122 mesi) con diagnosi DSA. I risultati evidenziano una discrepanza tra le misure di abilità generale e di processing in tutti i profili esaminati, come dimostrato da Giofrè & Cornoldi (2015). Emerge inoltre una differente compromissione delle abilità misurate dagli indici a seconda del tipo di DSA: come evidenziato da Poletti (2014), i dislessici mostrano deficit specifici nella velocità di elaborazione, mentre i discalculici hanno maggiori difficoltà nella memoria di lavoro e nel ragionamento fluido
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Benefit of cochlear implantation in a patient with Myhre syndrome
No full textMyhre syndrome is a rare disorder characterised by short stature, skeletal anomalies, facial dysmorphism and hearing loss (HL), resulting from heterozygous mutations of the SMAD4 gene. We describe the benefits of cochlear implant (CI) in a patient with sensorineural HL carrying a mutation (NM_005359.6: c.1498A>G; p.lle500Val) within the SMAD4 gene, detected by whole-exome sequencing. The CI was inserted through the round window despite otospongiotic abnormalities. Pure-tone audiometry improved up to 20 dBHL. Speech perception in noise (Simplified Noise Reduction - SNR +10) increased from 0% pre implantation with hearing aids to 50% post implantation. The postoperative setting of the electrical stimulation limits yielded an asymmetric map, with lower levels for central electrodes and higher levels for lateral ones. Action potential could not be evoked via medial electrodes, suggesting a cochlear nerve dysfunction. Outcomes related to quality of life and cognitive impairment improved. CI was shown to be an effective auditory rehabilitation strategy
Primary Ciliary Dyskinesia: The Impact of Taste Receptor (TAS2R38) Gene Polymorphisms on Disease Outcome and Severity
No full textBackground: Primary ciliary dyskinesia (PCD) is a rare genetic disease leading to recurrent respiratory infections of upper and lower airways. Chronic rhinosinusitis (CRS) and bronchiectasis are very common in PCD patients. Recently, it has been shown the presence of taste receptors in respiratory tract and the possible involvement of bitter taste receptor TAS2R38 gene in susceptibility to respiratory infections and rhinosinusitis. Objective: Aim of this study was to evaluate the frequency of TAS2R38 polymorphisms in PCD patients and their possible correlations with clinical outcomes of the disease. Methods: Genetic and phenotypic data of 35 PCD patients were collected. Clinical evaluation included neonatal respiratory distress (NRD) at birth, presence of situs inversus, CRS, and bronchiectasis. We also measured the number of respiratory infections per year and the relevant pathogens, Lund-Mackay score, FEV1, and modified Bhalla score. With regard to genetics data, 3 polymorphisms (rs1726866, rs713598, and rs10246939) within TAS2R38 gene were analyzed and the patients were classified as PAV/PAV, PAV/AVI, and AVI/AVI. Results: A significant difference in the distribution of TAS2R38 haplotype between patients with and without NRD emerged (p value = 0.01). A lower percentage of PAV/PAV individuals showed frequent respiratory exacerbations (≥2/year) (p value = 0.04) compared to those with AVI/AVI and AVI/PAV haplotypes. Moreover, no patients homozygous for PAV/PAV haplotype presented chronic colonization by Pseudomonas aeruginosa, thus supporting the possible role of TAS2R38 gene in susceptibility to respiratory infections. Conclusions: Here, we report, for the first time, a possible association of TAS2R38 polymorphisms with PCD phenotype
SLC12A2: a new gene associated with autosomal dominant Non-Syndromic hearing loss in humans
No full textNon-Syndromic Hereditary Hearing Loss (NSHHL) is the most common congenital sensorineural disorder with a reported frequency of 1/500 live births. It is char- acterised by a high genetic heterogeneity (approx. 115 genes and 170 loci so far identified) and current genetic tests fail to provide a diagnosis for a majority of cases, suggesting that many novel HL genes and muta- tions need to be identified [1]. In this light, the large genetic heterogeneity of the disease can be overcome using innovative technologies such as next generation sequencing techniques including Whole Exome Sequencing (WES)
Variations on the Author
Full text link“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
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