Search results for "Atops"

MUC, instrucciones de instalación y manual de uso

2019

Instrucciones de instalación y breve manual de uso de la aplicación MUC: Medida de Umbrales Cromáticos. Installation instructions and short user guide for MUC, a stand-alone application for the measurement of chromatic thresholds.

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.

Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene

2019

Achromatopsia (ACHM) is a hereditary cone photoreceptor disorder characterized by the inability to discriminate colors, nystagmus, photophobia, and low-visual acuity. Six genes have been associated with this rare autosomal recessively inherited disease, including the GNAT2 gene encoding the catalytic α-subunit of the G-protein transducin which is expressed in the cone photoreceptor outer segment. Out of a cohort of 1,116 independent families diagnosed with a primary clinical diagnosis of ACHM, we identified 23 patients with ACHM from 19 independent families with likely causative mutations in GNAT2, representing 1.7% of our large ACHM cohort. In total 22 different potentially disease-causing…

Blue-yellow deficiency in workers exposed to low concentrations of organic solvents

1997

Objectives: To evaluate the effects of low concentrations of organic solvents on color vision. Methods: Color vision was examined in 24 workers exposed to mixtures of solvents and in 24 control subjects. Exposure to mixtures was below the threshold-limit values. Color vision ability was assessed using the Ishihara plates (to screen for congenital dyschromatopsia), the Farnsworth panel D-15 test, the Lanthony desaturated panel D-15 test, and the Standard Pseudoisochromatic Plates part 2 (SPP2 test). Results: The comparatively less sensitive Farnsworth panel D-15 test failed to show any difference between the groups, but the Lanthony panel D-15 desaturated test as well as the SPP2 test showed…

Effects of high doses of toluene on color vision.

1999

High exposure to toluene may cause optic neuropathy and retinopathy, both associated with dyschromatopsia. Another solvent, ethanol, is known to induce acute blue-yellow dyschromatopsia. This study investigated the acute effects of high doses of toluene on color vision. Eight male printshop workers were examined before and after cleaning printing containers with pure toluene. After cleaning, concentrations of toluene in blood were between 3.61 and 7.37 mg/l. Color vision was tested with the Farnsworth panel D-15 test, the Lanthony desaturated panel D-15 test, and the Standard Pseudoisochromatic Plates part 2. For control of possible acute effects, eight workers of a metal-working factory wi…

Amycolatopsis balhimycina gene expression under inorganic phosphate limitation

2009

Wavelet analysis of human photoreceptoral response

2010

Feature detection of biomedical signals is crucial for deepening our knowledge of the physiological phenomena giving rise to them. To achieve this aim, even if many analytic approaches have been suggested only few are able to deal with signals whose features are time dependent, and to provide useful clinical information. In this work we use the wavelet analysis to extract peculiarities of the early response of the photoreceptoral human system, known as a-wave ERG-component. The analysis of the a-wave features is important since this component reflects the functional integrity of the two populations of photoreceptors, rods and cones whose activation dynamics are not well known. Moreover, in …

ChatOps paradigmas izmantošana darba vidē

2018

Līdz ar tehnoloģijas attīstību un ikdienā darbā izmantoto rīku skaita palielināšanos, ir nepieciešams veids, kā vieglāk kontrolēt izstrādes procesus, izsekot serveru un kompilāciju statusus un kā uzlabot komunikāciju starp izstrādes komandām. Galvenaie darba uzdevumi ir novērtēt ChatOps lietojamību, kā izstrādes procesu metodoloģiju, kā šī paradigma tiek īstenota darba vidē un kādi ir šīs paradigmas lietošanas ieguvumi un izaicinājumi. Kā arī svarīgi ir noskaidrot, kādi ChatOps risinājumi eksistē un kā tie atšķiras viens no otra. Bakalaura darbā ir izpētīts, kas ir ChatOps programmēšanas paradigma, kā šī paradgima radusies, kādi ir izaicinājumi, ar ko var sastapties, ieviešot ChatOps darba …