Search results for "ops"

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

2005

Contains fulltext : 47591.pdf (Publisher’s version ) (Closed access) Achromatopsia is a congenital, autosomal recessively inherited disorder characterized by a lack of color discrimination, low visual acuity (<0.2), photophobia, and nystagmus. Mutations in the genes for CNGA3, CNGB3, and GNAT2 have been associated with this disorder. Here, we analyzed the spectrum and prevalence of CNGB3 gene mutations in a cohort of 341 independent patients with achromatopsia. In 163 patients, CNGB3 mutations could be identified. A total of 105 achromats carried apparent homozygous mutations, 44 were compound (double) heterozygotes, and 14 patients had only a single mutant allele. The derived CNGB3 mutatio…

A comparison among different techniques for human ERG signals processing and classification

2014

A comparison among different techniques for human ERG signals processing and classification ( Articles not published yet, but available online Article in press About articles in press (opens in a new window) ) Barraco, R.a, Persano Adorno, D.a , Brai, M.a, Tranchina, L.b a Dipartimento di Fisica e Chimica, Università di Palermo and CNISM, Viale delle Scienze, Ed. 18, I-90128 Palermo, Italy b Laboratorio di Fisica e Tecnologie Relative - UniNetLab, Università di Palermo, Viale delle Scienze, Ed. 18, I-90128 Palermo, Italy Abstract Feature detection in biomedical signals is crucial for deepening our knowledge about the involved physiological processes. To achieve this aim, many analytic appro…

Mutations in the Cone Photoreceptor G-Protein α-Subunit Gene GNAT2 in Patients with Achromatopsia

2002

Achromatopsia is an autosomal recessively inherited visual disorder that is present from birth and that features the absence of color discrimination. We here report the identification of five independent families with achromatopsia that segregate protein-truncation mutations in the GNAT2 gene, located on chromosome 1p13. GNAT2 encodes the cone photoreceptor-specific alpha-subunit of transducin, a G-protein of the phototransduction cascade, which couples to the visual pigment(s). Our results demonstrate that GNAT2 is the third gene implicated in achromatopsia.

Specific transfer effects following variable priority dual-task training in older adults

2016

International audience; Purpose: Past divided attention training studies in older adults have suggested that variable priority training (VPT) tends to show larger improvement than fixed priority training (FPT). However, it remains unclear whether VPT leads to larger transfer effects. Methods: In this study, eighty-three older adults aged between 55 and 65 received five 1-hour sessions of VPT, FPT or of an active placebo. VPT and FPT subjects trained on a complex dual-task condition with variable stimulus timings in order to promote more flexible and self-guided strategies with regard to attentional priority devoted to the concurrent tasks. Real-time individualized feedback was provided to e…

IMPAIRED ALLOCENTRIC SPATIAL MEMORY UNDERLYNG TOPOGRAPHICAL DISORIENTATION

2006

The cognitive processes supporting spatial navigation are considered in the context of a patient (CF) with possible very early Alzheimer's disease who presents with topographical disorientation. Her verbal memory and her recognition memory for unknown buildings, landmarks and outdoor scenes was intact, although she showed an impairment in face processing. By contrast, her navigational ability, quantitatively assessed within a small virtual reality (VR) town, was significantly impaired. Interestingly, she showed a selective impairment in a VR object-location memory test whenever her viewpoint was shifted between presentation and test, but not when tested from the same viewpoint. We suggest t…

Acute stress and working memory in older people.

2015

Several studies have shown that acute stress affects working memory (WM) in young adults, but the effect in older people is understudied. As observed in other types of memory, older people may be less sensitive to acute effects of stress on WM. We performed two independent studies with healthy older men and women (from 55 to 77 years old) to investigate the effects of acute stress (Trier Social Stress Test; TSST) and cortisol on WM. In study 1 (n = 63), after the TSST women (but not men) improved their performance on Digit Span Forward (a measure of the memory span component of WM) but not on Digit Span Backward (a measure of both memory span and the executive component of WM). Furthermore,…

2016

The flexible access to information in working memory is crucial for adaptive behavior. It is assumed that this is realized by switching the focus of attention within working memory. Switching of attention is mirrored in the P3a component of the human event-related brain potential (ERP) and it has been argued that the processes reflected by the P3a are also relevant for selecting information within working memory. The aim of the present study was to further evaluate whether the P3a mirrors genuine switching of attention within working memory by applying an object switching task: Participants updated a memory list of four digits either by replacing one item with another digit or by processing…

2013

Distraction of goal-oriented performance by a sudden change in the auditory environment is an everyday life experience. Different types of changes can be distracting, including a sudden onset of a transient sound and a slight deviation of otherwise regular auditory background stimulation. With regard to deviance detection, it is assumed that slight changes in a continuous sequence of auditory stimuli are detected by a predictive coding mechanisms and it has been demonstrated that this mechanism is capable of distracting ongoing task performance. In contrast, it is open whether transient detection – which does not rely on predictive coding mechanisms – can trigger behavioral distraction, too…

Thyroid neoplasms: surgical and cyto-histopathological connections on a six year cases study

2018

This study aims to evaluate the percentage of cyto-histologic correlation in patients with a thyroid disease documented through clinical-instrumental, cytological (FNAB), histological and surgical examinations. The purpose of this study is also to determine the percentage of disease incidence and evaluating any surgical indication in relation to biological behavior (benign, malignant or indeterminate lesions, occult carcinomas), sex, and age.Almost all of thyroid neoplasms is manifested through thyroid nodule. Therefore, clinical evidence of the thyroid nodule analysis is primarily related to the need to exclude malignant pathology or carcinoma of the thyroid, present in 4-6.5% of cases.The…

Fine-needle biopsy of parathyroid adenomas

1986

High-resolution real-time sonography was performed in 15 cases of clinically and chemically suspected primary hyperparathyroidism and in 20 patients with different thyroid nodules. The suspected enlarged parathyroid glands and the thyroid nodules were percutaneously punctured under sonographic control. Concentrations of parathyroid hormone, human thyroglobulin, and human calcitonin were measured in the aspirate, and immunocytology was performed. The mean concentration of the aspirated parathyroid hormone in the parathyroid glands was 4,013.6 pmol/l +/- 4,519 (SD) as compared with 14.9 pmol/l +/- 8.7 in the thyroid nodules. Thyroglobulin was present in the aspirated fluid of parathyroid aden…