Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.

Contactin-associated protein-like 2 (CNTNAP2) gene encodes for CASPR2, a presynaptic type 1 transmembrane protein, involved in cell-cell adhesion and synaptic interactions. Biallelic CNTNAP2 loss has been associated with "Pitt-Hopkins-like syndrome-1" (MIM#610042), while the pathogenic role of heterozygous variants remains controversial. We report 22 novel patients harboring mono- (n = 2) and bi-allelic (n = 20) CNTNAP2 variants and carried out a literature review to characterize the genotype-phenotype correlation. Patients (M:F 14:8) were aged between 3 and 19 years and affected by global developmental delay (GDD) (n = 21), moderate to profound intellectual disability (n = 17) and epilepsy (n = 21). Seizures mainly started in the first two years of life (median 22.5 months). Antiseizure medications were successful in controlling the seizures in about two-thirds of the patients. Autism spectrum disorder (ASD) and/or other neuropsychiatric comorbidities were present in nine patients (40.9%). Nonspecific midline brain anomalies were noted in most patients while focal signal abnormalities in the temporal lobes were noted in three subjects. Genotype-phenotype correlation was performed by also including 50 previously published patients (15 mono- and 35 bi-allelic variants). Overall, GDD (p < 0.0001), epilepsy (p < 0.0001), hyporeflexia (p = 0.012), ASD (p = 0.009), language impairment (p = 0.020) and severe cognitive impairment (p = 0.031) were significantly associated with the presence of biallelic versus monoallelic variants. We have defined the main features associated with biallelic CNTNAP2 variants, as severe cognitive impairment, epilepsy and behavioral abnormalities. We propose CASPR2-deficiency neurodevelopmental disorder as an exclusively recessive disease while the contribution of heterozygous variants is less likely to follow an autosomal dominant inheritance pattern.

Caso Dona Margarida [exercício]

Perguntas verdadeiro ou falso que abordam a importância da visita e da assistência domiciliar ao idoso dependente, com ênfase na saúde bucal. Discute o papel do cuidador de idosos e a importância do cuidado aos cuidadores na atenção básica. Aborda o diagnóstico e o tratamento da doença periodontal e da cárie dentária no idoso.

Consumo de bebida alcoólica, fatores socioeconômicos e excesso de peso: um estudo transversal no sul do Brasil / Alcohol consumption, social and economic factors and excess weight: a cross-sectional study

O objetivo do estudo foi investigar o consumo de álcool e verificar sua associação com escolaridade, renda e excesso de peso em uma amostra de mulheres. Trata-se de um estudo transversal com 317 mulheres. Aplicou-se um questionário padronizado e pré-codificado para determinar a quantidade, a frequência e o tipo de bebida alcoólica consumida. As mulheres foram classificadas em dois grandes grupos, conforme a quantidade de bebida consumida. O primeiro grupo "Consumo de Álcool", formado por duas subcategorias: (1) mulheres que bebiam no mínimo 10g/dia de etanol; (2) mulheres que referiram não consumir 10g/dia de etanol e as que beberam em algum período da vida ou previamente, mas que o deixaram de fazer. O segundo grupo, "Contato com Álcool", foi composto por três subcategorias: (1) bebedoras (mulheres que bebiam no mínimo 10g/dia de etanol), (2) ex-bebedoras (já beberam regularmente, mas deixaram de consumir a bebida) e (3) não bebedoras. Das investigadas, 30% eram bebedoras e 36,6% se declararam ex-bebedoras. Tinham sobrepeso 39,4% das participantes e 34,3% eram obesas. As investigadas com maior grau de instrução consumiam maior quantidade de álcool, quando comparadas às mulheres com menor escolaridade (analfabetas) que consumam menos (p = 0,010).

The scope of this study was to investigate alcohol consumption and its association with educational level, income and weight in a sample of women. It involved a cross-sectional study with 317 women. A standardized and pre-encoded questionnaire was applied to determine the amount, frequency and type of alcoholic beverage consumed. The women were classified in two large groups according to the number of drinks consumed. The first group "Alcohol Consumption," was comprised of two subcategories: (1) women who drank at least 10g/day of ethanol; (2) women who reported not consuming 10g/day of ethanol, and those who drank at some period of their lives or previously, but no longer did so. The second group, "Contact with Alcohol," was composed of three subcategories: (1) drinkers (women who drank at least 10g/dia of ethanol); (2) former drinkers (women who used to drink regularly, but no longer drink alcohol); and (3) non-drinkers. 30% of the women investigated were drinkers, and 36.6% reported they were former drinkers. 39.4% of the total sample was overweight and 34.3% obese. Women with higher educational levels were found to consume a larger amount of alcohol when compared to women with less education (illiterate) who consume less (p = 0.010).

[Alcohol consumption, social and economic factors and excess weight: a cross-sectional study]. / Consumo de bebida alcoólica, fatores socioeconômicos e excesso de peso: um estudo transversal no sul do Brasil.

The scope of this study was to investigate alcohol consumption and its association with educational level, income and weight in a sample of women. It involved a cross-sectional study with 317 women. A standardized and pre-encoded questionnaire was applied to determine the amount, frequency and type of alcoholic beverage consumed. The women were classified in two large groups according to the number of drinks consumed. The first group "Alcohol Consumption," was comprised of two subcategories: (1) women who drank at least 10g/day of ethanol; (2) women who reported not consuming 10g/day of ethanol, and those who drank at some period of their lives or previously, but no longer did so. The second group, "Contact with Alcohol," was composed of three subcategories: (1) drinkers (women who drank at least 10g/dia of ethanol); (2) former drinkers (women who used to drink regularly, but no longer drink alcohol); and (3) non-drinkers. 30% of the women investigated were drinkers, and 36.6% reported they were former drinkers. 39.4% of the total sample was overweight and 34.3% obese. Women with higher educational levels were found to consume a larger amount of alcohol when compared to women with less education (illiterate) who consume less (p = 0.010).

Sistema Único de Saúde [história em quadrinhos fictícia]

Introdução ao SUS, através do estudo do histórico, conceitos, atributos e modelos nacionais e internacionais.

Sistema Único de Saúde [história em quadrinhos fictícia]

Introdução ao Sistema Único de Saúde, através do estudo do histórico, conceitos, atributos e modelos nacionais e internacionais.

[Hospitalization and risk factors among elderly individuals living in nursing homes]. / Hospitalização e fatores associados entre residentes de instituições de longa permanência para idosos.

The aim of the present study was to evaluate the prevalence of hospital admissions over a one-year period and associated factors through a survey of elderly subjects living in nursing homes in Pelotas, Rio Grande do Sul State, Brazil. Hospital admissions were assessed using the question: "From 'month' last year to today, were you admitted to a hospital?" Out of 521 eligible individuals, information was collected for 466 (89.4%). Prevalence of hospital admissions in the previous 12 months was 23.9% (95%CI: 19.9-27.8). Admissions were directly associated with: inability to perform basic activities of daily living, falls, and history of smoking. Single and divorced individuals were less likely to be hospitalized. There was an inverse association between hospitalization and self-rated health. The high prevalence of hospitalization among elderly subjects living in nursing homes is an important indicator for the organization of health services, in order to ensure high-quality services for a population group experiencing a demographic and epidemiological transition.

Hospitalizacao e fatores associados entre residentes de instituicoes de longa permanencia para idosos / Hospitalization and risk factors among elderly individuals living in nursing homes

O estudo avaliou a prevalencia de internacao hospitalar no periodo de um ano e os fatores associados com base em um censo entre residentes de instituicoes de longa permanencia para idosos em Pelotas, Rio Grande do Sul, Brasil. A internacao hospitalar foi avaliada com a pergunta: "Desde do ano passado, o(a) Sr.(a) baixou em algum hospital?". Dos 521 individuos elegiveis, coletou-se informacao de 466 (89,4 por cento). A prevalencia de hospitalizacao no ultimo ano foi de 23,9 por cento (IC95 por cento: 19,9-27,8) e associou-se com: incapacidade para atividades basicas vida diaria, ocorrencia de queda no ultimo ano e o fato de ser ex-fumante. Individuos solteiros e separados tiveram protecao para internacao hospitalar. Houve tambem associacao inversa do desfecho com autopercepcao de saude. A alta prevalencia de internacao hospitalar encontrada em individuos residentes em instituicoes de longa permanencia para idosos e um importante indicador para o planejamento dos servicos de saude, de forma a bem atender as demandas de uma populacao em transicao demografica e epidemiologica.

The aim of the present study was to evaluate the prevalence of hospital admissions over a one-year period and associated factors through a survey of elderly subjects living in nursing homes in Pelotas, Rio Grande do Sul State, Brazil. Hospital admissions were assessed using the question: "From last year to today, were you admitted to a hospital?" Out of 521 eligible individuals, information was collected for 466 (89.4 percent). Prevalence of hospital admissions in the previous 12 months was 23.9 percent (95 percentCI: 19.9-27.8). Admissions were directly associated with: inability to perform basic activities of daily living, falls, and history of smoking. Single and divorced individuals were less likely to be hospitalized. There was an inverse association between hospitalization and self-rated health. The high prevalence of hospitalization among elderly subjects living in nursing homes is an important indicator for the organization of health services, in order to ensure high-quality services for a population group experiencing a demographic and epidemiological transition.

Size at birth and height in early adolescence: a prospective birth cohort study.

The aim of this study was to evaluate the association between size at birth (birthweight and birth length) and height in early adolescence in a prospective birth cohort study in Pelotas, Rio Grande do Sul, Brazil. Interviews were carried out in 1993, including measurements of birthweight and length, and in 2004-2005, including measurements of weight and height. This analysis includes 4,452 individuals, with a mean age of 11.3 years (standard deviation-SD=0.3), representing a follow-up rate of 87.5%. Mean height at 11 years was 145.8 cm (SD=7.9), or 144.9 cm (SD=7.7) in boys and 146.8 cm (SD=7.9) in girls. Birthweight and birth length were positively associated with height in early adolescence in the crude analysis, but after adjustment for confounding and for each other, only the effect of birth length was still significant. A one z-score increase in birth length was associated with a 1.63 cm increase in height at 11 years. The present study shows that birth length is a strong predictor of later height, while the effect of birth weight disappears after adjustment for birth length.

Size at birth and height in early adolescence: a prospective birth cohort study

The aim of this study was to evaluate the association between size at birth (birthweight and birth length) and height in early adolescence in a prospective birth cohort study in Pelotas, Rio Grande do Sul, Brazil. Interviews were carried out in 1993, including measurements of birthweight and length, and in 2004-2005, including measurements of weight and height. This analysis includes 4,452 individuals, with a mean age of 11.3 years (standard deviation - SD = 0.3), representing a follow-up rate of 87.5 percent. Mean height at 11 years was 145.8 cm (SD = 7.9), or 144.9 cm (SD = 7.7) in boys and 146.8 cm (SD = 7.9) in girls. Birthweight and birth length were positively associated with height in early adolescence in the crude analysis, but after adjustment for confounding and for each other, only the effect of birth length was still significant. A one z-score increase in birth length was associated with a 1.63 cm increase in height at 11 years. The present study shows that birth length is a strong predictor of later height, while the effect of birth weight disappears after adjustment for birth length.

O objetivo deste estudo foi avaliar a associação entre o tamanho ao nascer (peso e comprimento) e altura no início da adolescência em uma coorte de nascimentos prospectiva em Pelotas, Rio Grande do Sul, Brasil. Entrevistas foram conduzidas em 1993, incluindo mensuração de peso e comprimento ao nascer, e em 2004-2005, incluindo mensuração de peso e altura. Esta análise inclui 4.452 indivíduos com idade média de 11,3 anos (DP = 0,3), representando uma taxa de acompanhamento de 87,5 por cento. A média de altura aos 11 anos foi de 145,8cm (DP = 7,9), sendo 144,9cm (DP = 7,7) entre os meninos e 146,8cm (DP = 7,9) entre as meninas. O peso e o comprimento ao nascer associaram-se positivamente com a altura no início da adolescência na análise bruta, mas após ajuste para fatores de confusão e um para o outro, apenas o efeito do comprimento continuou significativo. Um aumento de um escore-z no comprimento ao nascer esteve associado com um aumento de 1,63cm na altura aos 11 anos. O estudo mostra que o comprimento ao nascer é um forte preditor da altura futura, enquanto o efeito do peso ao nascer desaparece após ajuste para o comprimento ao nascer.

Reconstruindo um conselho local de saúde: descrição e análise da experiência de uma Unidade de Atenção Primária do Serviço de Saúde Comunitária - GHC

Este estudo trata de analisar o processo participativo da experiência de reconstrução do Conselho Local de Saúde da Unidade de Saúde Coinma, pertencente ao Serviço de Saúde Comunitária do Grupo Hospitalar Conceição, Porto Alegre-RS, descrever como os Conselheiros percebem sua participação no Conselho, bem como as dificuldades e motivações do processo participativo do mesmo.

[Prevalence of heartburn in Pelotas, RS, Brasil: population-based study]. / Prevalência de pirose em Pelotas, RS, Brasil: estudo de base populacional.

OBJECTIVE: Estimation of the prevalence of heartburn in an adult population of Pelotas, RS, Brazil, once there is no national study done with adequate and specific statistic analysis. DESIGN: Cross-sectional study in populational base. METHOD: Were included citizen over 20 years in samples obtained in 40 populational areas according to Brazilian Institute of Geography and Statistics. An uniform and precodified questionnaire was applied to all participants. A quality control was done using a simplified questionnaire in 10% of the people that were included in the sample. Codification and the input of the data was done two times through the Epi-Info programme in order to minimize the consistency errors. The analysis of the figures was done in the SPSS programme and obtained comparations between the prevalence of heartburn in relation to demographic variables through the prevalence rate, confidence interval of 95% and the 'x - square test. Also were analysed the figures of heartburn associated to meals and decubit position. RESULTS: Among 1,263 persons included in the study were found rates of the heartburn prevalence of 48.2%, 32.2% and 18.2% in the last year, month and week, respectively. All forms of heartburn were associated to females with statistic significance. There was no association with age. The prevalence of heartburn associated with meals and decubit position in the last year was 33% and 16.6%, respectively. These association in the last month was 23% and 11.4% and in the last week was 14.3% and 7.2%, respectively. CONCLUSIONS: The high prevalence found in this study should call attention to those persons which could be exposed to the risk of complications, as well as to those that have alterations in the life quality.

Prevalência de pirose em Pelotas, RS, Brasil: estudo de base populacional / Prevalence of heartburn in Pelotas, RS, Brasil: study in population base

RACIONAL: Desconhece-se a prevalência da doença do refluxo gastroesofágico no Brasil e em países latino-americanos, bem como de seu marcador mais específico: a pirose. O conhecimento desse parâmetro epidemiológico é importante pela influência eventual da enfermidade na qualidade de vida, bem como o risco de complicações. OBJETIVO: Estudar a prevalência de pirose na populaçäo adulta na cidade de Pelotas, RS. DELINEAMENTO: Estudo transversal de base populacional. PACIENTES E MÉTODOS: Foram incluídos indivíduos a partir de 20 anos, residentes na zona urbana da cidade. Utilizou-se amostragem por conglomerados em 40 setores censitários do Instituto Brasileiro de Geografia e Estatística. Questionários padronizados e pré-codificados foram aplicados aos participantes. Realizou-se controle de qualidade aplicando-se questionários simplificados em 10 por cento das pessoas incluídas na amostra. A codificaçäo e a entrada de dados através do programa Epi-Info foram realizadas duas vezes, com o intuito de diminuir os erros de consistência. A análise dos dados foi realizada através do programa SPSS, onde foram feitas comparações entre a prevalência de pirose em relaçäo às variáveis demográficas através das razöes de prevalências, intervalos de confiança a 95 por cento e do teste do qui-quadrado. RESULTADOS: Entre as 1.263 pessoas incluídas no estudo, encontraram-se taxas de prevalências de pirose de 48,2 por cento, 32,2 por cento e 18,2 por cento para o último ano, mês e semana, respectivamente. Todas as formas do desfecho pirose estavam associadas com o sexo feminino, de maneira estatisticamente significativa. Contudo, näo foi encontrada associaçäo com relaçäo à idade. CONCLUSÕES: As elevadas prevalências encontradas neste estudo devem chamar a atençäo para assistência médica a estes indivíduos, particularmente ao fato de que estäo expostos a eventuais complicações da doença do refluxo gastroesofágico.

Caso Darlene: Atividade de verdadeiro ou falso

Atividade de verdadeiro ou falso que retoma o conteúdo de depressão puerperal.

Caso Darlene: Dor de garganta - Faringite bacteriana

Videoaula que aborda a faringite bacteriana.

Caso Darlene: Atividade - Faringite

Atividade de relacionar aspectos relevantes da etiologia viral ou estreptocócica da faringite.

Caso Darlene: Vulvovaginites

Videoaula que aborda o atendimento de pacientes com vulvovaginites, na Atenção Primária.

Caso Darlene: Atividade de palavras cruzadas

Atividade de palavras cruzadas que retoma o conteúdo relativo às vulvovaginites.

Caso Darlene: Fórum

Atividade de fórum que estimula a discussão sobre a depressão puerperal, diagnóstico, manifestações clínicas, fatores de risco e aspectos importantes da abordagem e manejo dos casos atendidos pelos profissionais das equipes de saúde da família na Atenção Primária.

Caso Darlene: Atividade avaliativa de múltipla escolha

Atividade de relacionar colunas que retoma o conteúdo do caso clínico fictício Darlene.