Nova Abordagem ao Diagnóstico da Sindroma de Alport: Pesquisa da Cadeia α5 do Colagénio Tipo IV na Pele

Em 2000, os autores iniciaram no Serviço de Nefrologia do Hospital de Curry Cabral, um protocolo de avaliação do papel do estudo imunopatológico da biópsia cutânea no diagnóstico da Sindroma de Alport (SA). A SA é uma doença hereditária, secundária a um defeito do colagénio tipo IV (col. IV), principal componente das membranas basais. O col. IV é constituído por 6 cadeias distintas (α1 a α6). A cadeia α5 está presente nas membranas basais glomerulares e da epiderme (MBE). Em cerca de 85% dos casos de SA (forma de transmissão ligada ao cromossoma X) verifica-se uma alteração da cadeia α5, com consequente ausência ou intermitência desta cadeia, na MBE. O objectivo deste trabalho foi pesquisar a presença da cadeia α5 do col. IV na MBE, e consequentemente avaliar o papel da biópsia cutânea no diagnóstico da SA. Para o efeito estudámos as biópsias cutâneas de dezanove indivíduos pertencentes a seis famílias distintas. Em cada uma das famílias havia pelo menos um indivíduo com história de SA. As biópsias cutâneas foram avaliadas por método de imunofluorescência indirecta, com antisoros dirigidos às cadeias α1, α3 e α5 do col. IV. No padrão normal há a presença das cadeias α5 e α1 e ausência de α3 na MBE.Verificou-se a ausência de α5 na MBE em quatro homens com SA enquanto que um caso de SA apresentou um padrão positivo. Nas mulheres com SA verificámos a intermitência da α5. Nas sintomáticas, mas sem doença, obtivémos um padrão de intermitência da α5 em três casos e um padrão positivo em três casos. Nas três mulheres assintomáticas, os padrões foram igualmente positivos. Em todos os espécimes biópticos verificou-se a presença de α1 (controlo positivo) e a ausência de α3 (controlo negativo). Realçamos o valor da biópsia cutânea no diagnóstico da SA. Este método é particularmente relevante no homem, onde a ausência da α5 na MBE determina o diagnóstico da SA com forma de transmissão ligada ao cromossoma X. Nas mulheres verificam-se dois padrões possíveis, positivo ou intermitente. A intermitência estará relacionada com a presença de SA ou estado portador. Assim consideramos que a biópsia cutânea deverá ser o primeiro passo na marcha diagnóstica para a SA em qualquer doente em que se suspeite desta patologia

Decline in duration, satisfaction and sleep quality among informal caregivers of stroke survivors, 18-months post-stroke

Background. Data on stroke caregivers’ sleep is scarce. We aimed to assess changes in duration, satisfaction and sleep quality among informal caregivers of stroke survivors. Methods. Informal caregivers (n = 126) of stroke survivors hospitalized between September 2018 and August 2019 in the 12 Stroke Units of the North of Portugal were invited to participate in the study, 18 months’ post-stroke. Sociodemographic and sleep characteristics (duration, satisfaction and quality) were collected through structured questionnaires. Odds ratios and 95% confidence intervals (95%CI) were estimated through logistic regression, adjusted for age and sex. Answers to open-ended questions were synthetized using content analysis. Results. Due to care provision, informal caregivers reported sleeping, on average (SD), significantly less hours (7.0 (1.7) vs. 6.4 (1.8); p < 0.001). Since its beginning, caregivers’ satisfaction with their sleep decreased approximately 30%. Changes in sleep quality, namely difficulties in falling asleep and constant interruptions during sleep, were reported by almost 70% of caregivers. Only 6.4% described the prescription of medication to sleep after beginning care provision. Participants who returned to work (adjusted OR = 0.34; 95%CI:0.16-0.76) and with a monthly income above 1000€ (adjusted OR = 0.29; 95%CI:0.13-0.66) were less likely to report changes in sleep quality. Conclusions. A decline in duration, satisfaction and sleep quality of informal caregivers of stroke survivors, 18 months’ post-stroke, was observed. Changes in sleep quality revealed socioeconomic inequalities, highlighting the need to prevent adverse health outcomes related to sleep disturbance

Portuguese validation of the Adult Carer Quality of Life Questionnaire (AC-QoL)

Background. Assuring informal carers' quality of life (QoL) must be a priority for public health policies and practices. The Adult Carer Quality of Life Questionnaire (AC-QoL) is a recent and valid instrument, overpassing limitations of previous tools, and being already used among informal stroke carers. This study aimed to assess the feasibility, reliability and validity of the AC-QoL among Portuguese informal carers of stroke survivors. Methods. The linguistic adaptation of the AC-QoL was performed. Informal carers (n = 212) of stroke survivors hospitalized between September 2018 and August 2019 in all Stroke Units of the North of Portugal (n = 12) were invited to participate, 18 to 24 months post-stroke. Data on sociodemographic characteristics, psychological profile, burden and QoL were collected using a structured questionnaire. The psychometric properties of the AC-QoL were investigated through exploratory and confirmatory factor analyses. Cronbach's alpha was used to measure internal consistency. Construct validity was assessed through the association of the overall score of AC-QoL with anxiety and depressive symptoms, burden and sociodemographic characteristics. Results. Exploratory factor analysis supported the original eight-factor structure of the AC-QoL, revealing an adequate goodness of fit to the study sample (X2(674)=1145.926; CFI=0.916; TLI=0.908; RMSEA=0.058). The AC-QoL showed a high degree of reliability, with Cronbach's scores for the subscales ranging from 0.64 to 0.97 and a Cronbach's alpha of 0.91 for the overall score. Anxiety symptoms (p < 0.001), depression symptoms (p < 0.001) and burden (p < 0.001) were inversely associated with the overall score of AC-QoL. Younger (p = 0.032) and employed (p = 0.021) informal carers presented more frequently higher scores of overall QoL, than those older and unemployed. Conclusions. The Portuguese version of the AC-QoL is a comprehensive, simple, reliable and valid instrument to assess informal stroke carers' QoL

Controle genético da resistência do milho ao enfezamento pálido causado por espiroplasma.

Suplemento. Edição dos resumos do 45º Congresso Brasileiro de Fitopatologia, Manaus, 2012

Aspectos agronômicos e de qualidade de espiga em famílias endogâmicas de milho doce.

bitstream/CNPMS-2010/22380/1/Circ-121.pd

Derivation of an Abelian effective model for instanton chains in 3D Yang-Mills theory

In this work, we derive a recently proposed Abelian model to describe the interaction of correlated monopoles, center vortices, and dual fields in three dimensional SU(2) Yang-Mills theory. Following recent polymer techniques, special care is taken to obtain the end-to-end probability for a single interacting center vortex, which constitutes a key ingredient to represent the ensemble integration.Comment: 18 pages, LaTe

Produtividade estacional, melhoramento e manejo de pastagens na Ilha de Marajó.

bitstream/item/57747/1/CPATU-ComTec51.pd