Clinicopathological features of the rare form of Creutzfeldt-Jakob disease in R208H-V129V PRNP carrier

Genetic transmissible spongiform encephalopathy (TSE) diseases are always associated with one of the more than 50 disease-associated point or insert mutations of the PrP gene (PRNP) [12] and represent approximately 10 to 20% of all forms of TSE diseases [9]. Each mutation is often associated with specific clinic-pathological phenotype [12] that are generally represented by Creutzfeldt-Jakob disease (CJD) [3, 8], Gerstmann–Sträussler–Scheinker disease or inherited prion protein cerebral amyloidoses [5], and fatal familial insomnia [4]. The methionine/valine polymorphism at codon 129 of PRNP plays also a role in determining the disease phenotype, especially when co-segregates with the pathogenic mutation [3]. Most PRNP mutations responsible for the CJD phenotype, including the R208H, are extremely rare and often there is no evidence of CJD in other family members. In particular, the R208H mutation co-segregates either with methionine or valine at codon 129 and it has been fully described in only 12 patients carrying M129 and 4 patients with V129 [8]. Here, we report clinical and neuropathological details of the fourth worldwide case of CJD carrying the rare R208H-129 Val PRNP genotype with a suggestive positive family history for dementia

Série temporal da dinâmica do sistema de saúde para o diagnóstico de tuberculose em uma região metropolitana do nordeste brasileiro (2010-2020)

Objetivo: Analisar a dinâmica do sistema de saúde para o diagnóstico de tuberculose em região metropolitana de um estado do nordeste brasileiro. Métodos: Estudo ecológico de série temporal realizado em São Luís, no Estado do Maranhão, região Nordeste do Brasil. A população do estudo foi composta casos de tuberculose notificados noSistema de Informação de Agravos de Notificação (SINAN) no período de 2010 a 2020. A estatística descritiva dos casos foi realizada utilizando medidas de frequência absoluta e relativa e o teste Qui–quadrado de Pearson foi utilizado para comparar as frequências entre os casos notificados em unidades de Atenção Primária a Saúde (APS) e hospitalares e a caracterização sociodemográfica e clínica. Para análise da série temporal, recorreu-se ao modelo deautorregressão Prais–Winsten, seguido do método de decomposição denominado Seasonal–Trend using Loess (STL), finalizando com a previsão da tendência temporal para os próximos anos. Os dados foram analisados utilizando os recursos do software Stata versão 17 (StataCorp, College Station, TX, USA) e R versão 3.5.2 (R Core Team, 2020). Resultados: Foram notificados 7.948 casos com diagnóstico de tuberculose, sendo 1.608 notificados em unidadesde Atenção Primária e 6.340 em unidades Hospitalares. O teste Qui–quadrado resultou na frequência relativa calculada considerando o total de paciente que possuíam resultados de cada exame com diferenças estatisticamente significantes (p < 0,05). Conclusão: Foi possível observar tendência temporal diferenciada entre o diagnóstico realizado pela APS e hospitais. Na análise e modelagem temporal houve aumento nos casos notificados na APS e estacionário nos hospitais, entretanto, na modelagem temporal houve redução do número de casos nos hospitais.Objective: To analyze the dynamics of the health system for the diagnosis of tuberculosis in a metropolitan region of a Northeast Brazilian state. Methods: Ecological time series study conducted in São Luís, Maranhão State, Northeast region of Brazil. The study population was composed of tuberculosis cases notified in the Notifiable Diseases Information System (SINAN) in the period from 2010 to 2020. The descriptive statistics of the cases was performed using absolute and relative frequency measures, and Pearson’s Chi-square test was used to compare thefrequencies between the cases notified in Primary Health Care (PHC) and hospital units and the sociodemographic and clinical characterization. For time series analysis, the Prais-Winsten autoregression model was used, followed by the decomposition method called Seasonal-Trend decomposition using LOESS (STL), ending with the time trend prediction for the next years. The data were analyzed using the resources of the computer programs named Stata, version 17 (StataCorp, College Station, TX, USA) and R, version 3.5.2 (R Core Team, 2020). Results: A total of 7,948 cases diagnosed with tuberculosis were notified, of which 1,608 were notified in Primary Care units and 6,340 in hospital units. The Chi-square test resulted in a relative frequency calculated considering the totalnumber of patients who had results from each examination with statistically significant differences (p < 0.05). Conclusion: It was possible to observe different time trends between diagnoses performed by PHC and hospitals. In the time analysis and modeling, there was an increase in cases notified in PHC and stationary in hospitals; however, in the time modeling, there was a reduction in the number of cases in hospitals

Color discrimination is affected by modulation of luminance noise in pseudoisochromatic stimuli

Pseudoisochromatic stimuli have been widely used to evaluate color discrimination and to identify color vision deficits. Luminance noise is one of the stimulus parameters used to ensure that subject´s response is due to their ability to discriminate target stimulus from the background based solely on the hue between the colors that compose such stimuli. We studied the influence of contrast modulation of the stimulus luminance noise on threshold and reaction time color discrimination. We evaluated color discrimination thresholds using the Cambridge Color Test (CCT) at six different stimulus mean luminances. Each mean luminance condition was tested using two protocols: constant absolute difference between maximum and minimum luminance of the luminance noise (constant delta protocol, CDP), and constant contrast modulation of the luminance noise (constant contrast protocol, CCP). MacAdam ellipses were fitted to the color discrimination thresholds in the CIE 1976 color space to quantify the color discrimination ellipses at threshold level. The same CDP and CCP protocols were applied in the experiment measuring RTs at three levels of stimulus mean luminance. The color threshold measurements show that for the CDP, ellipse areas decreased as a function of the mean luminance and they were significantly larger at the two lowest mean luminances, 10 cd/m2 and 13 cd/m2, compared to the highest one, 25 cd/m2. For the CCP, the ellipses areas also decreased as a function of the mean luminance, but there was no significant difference between ellipses areas estimated at six stimulus mean luminances. The exponent of the decrease of ellipse areas as a function of stimulus mean luminance was steeper in the CDP than CCP. Further, reaction time increased linearly with the reciprocal of the length of the chromatic vectors varying along the four chromatic half-axes. It decreased as a function of stimulus mean luminance in the CDP but not in the CCP. The findings indicated that visual performance using pseudoisochromatic stimuli was dependent on the Weber´s contrast of the luminance noise. Low Weber´s contrast in the luminance noise is suggested to have a reduced effect on chromatic information and, hence, facilitate desegregation of the hue-defined target from the background.Fil: Cormenzana Méndez, Iñaki. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Tucumán; Argentina. Universidad Nacional de Tucumán. Facultad de Ciencias Exactas y Tecnología. Laboratorio de Luminotecnia; ArgentinaFil: Martín, Andrés. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Tucumán. Instituto de Investigación en Luz, Ambiente y Visión. Universidad Nacional de Tucumán. Facultad de Ciencias Exactas y Tecnología. Instituto de Investigación en Luz, Ambiente y Visión; Argentina. Universidad Nacional de Tucumán. Facultad de Ciencias Exactas y Tecnología. Laboratorio de Luminotecnia; ArgentinaFil: Charmichael, Teaire L.. Christian Brothers University; Estados UnidosFil: Jacob, Mellina M.. Universidade Federal do Pará; BrasilFil: Lacerda, Eliza M. C. B.. Universidade Federal do Pará; BrasilFil: Gomes, Bruno D.. Universidade Federal do Pará; BrasilFil: Fitzgerald, Malinda E. C.. Christian Brothers University; Estados Unidos. University of Tennessee; Estados UnidosFil: Ventura, Dora F.. Universidade de Sao Paulo; BrasilFil: Silveira, Luiz C. L.. Universidade do Ceuma; Brasil. Universidade Federal do Pará; BrasilFil: O´donell, Beatriz Maria. Universidad Nacional de Tucumán. Facultad de Ciencias Exactas y Tecnología. Laboratorio de Luminotecnia; ArgentinaFil: Souza, Givago S.. Universidade Federal do Pará; Brasi