Printable Optical Filters for Visible Optical Communications

The design, production and characterization of tailored printable optical filters for visible optical communications are demonstrated. As result, the average color difference between the specified and the produced filters is 32.6, quantified in terms of CIELAB coordinates

Estudo de caso clínico: apendicite aguda

info:eu-repo/semantics/publishedVersio

Estudo de caso clínico: apendicite aguda

A apendicite aguda é uma das urgências cirúrgicas mais frequentes em idades compreendidas entre os 10 e os 20 anos. A teoria atual diz que a apendicite resulta num fator que precipita a necrose da mucosa do apêndice e dá origem a uma infeção bacteriana secundária com bactérias colónicas normais. Podem formar-se ulcerações da mucosa e micro- abcessos na parede do apêndice ou nos tecidos vizinhos, no en tanto, se o processo inflamatório tiver uma evolução relativamente lenta, a infeção pode ficar circunscrita a um abcesso localizado. Nos ca sos de evolução mais rápida existe o risco de rutura e peritonite aguda.info:eu-repo/semantics/publishedVersio

Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP

Mutations in three genes (PSEN1, PSEN2, and APP) have been identified in patients with early-onset (<65years) Alzheimer’s disease (AD). We performed a screening for mutations in the coding regions of presenilins, as well as exons 16 and 17 of the APP gene in a total of 231 patients from the Iberian peninsular with a clinical diagnosis of early onset AD (mean age at onset of 52.9 years; range 31– 64). We found three novel mutations in PSEN1, one novel mutation in PSEN2, and a novel mutation in the APP gene. Four previously described mutations in PSEN1 were also found. The same analysis was carried in 121 elderly healthy controls from the Iberian peninsular, and a set of 130 individuals from seven African populations belonging to the Centre d’Etude du Polymorphisme Humain-Human Genome Diversity Panel (CEPH-HGDP), in order to determine the extent of normal variability in these genes. Interestingly, in the latter series, we found five new nonsynonymous changes in all three genes and a presenilin 2 variant (R62H) that has been previously related to AD. In some of these mutations, the pathologic consequence is uncertain and needs further investigation. To address this question we propose and use a systematic algorithm to classify the putative pathology of AD mutations

Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP

Mutations in three genes (PSEN1, PSEN2, and APP) have been identified in patients with early-onset (<65years) Alzheimer’s disease (AD). We performed a screening for mutations in the coding regions of presenilins, as well as exons 16 and 17 of the APP gene in a total of 231 patients from the Iberian peninsular with a clinical diagnosis of early onset AD (mean age at onset of 52.9 years; range 31– 64). We found three novel mutations in PSEN1, one novel mutation in PSEN2, and a novel mutation in the APP gene. Four previously described mutations in PSEN1 were also found. The same analysis was carried in 121 elderly healthy controls from the Iberian peninsular, and a set of 130 individuals from seven African populations belonging to the Centre d’Etude du Polymorphisme Humain-Human Genome Diversity Panel (CEPH-HGDP), in order to determine the extent of normal variability in these genes. Interestingly, in the latter series, we found five new nonsynonymous changes in all three genes and a presenilin 2 variant (R62H) that has been previously related to AD. In some of these mutations, the pathologic consequence is uncertain and needs further investigation. To address this question we propose and use a systematic algorithm to classify the putative pathology of AD mutations