Cognitive impairment is frequent in cerebral palsy (CP) and there is a lack of multiprofessional screening instruments.OBJECTIVE:The aim of this study was to investigate the utility of the Mini-Mental State Examination for Children (MMC), an adapted version of the Mini-Mental State Examination, in screening for cognitive impairments in children with CP.METHODS:We assessed 397 Brazilian children, 310 with typical development and 87 with CP (hemiplegic and quadriplegic forms), aged 5-16 years. Association between the MMC and general intelligence was assessed by the Colored Progressive Matrices instrument.RESULTS:Psychometric indexes for the MMC were adequate. ROC analyses revealed effective diagnostic accuracy in all ages assessed. Cut-off values are reported. Major difficulties on the MMC were observed in children with CP, particularly individuals with the quadriplegic form. Moreover, the MMC showed moderate correlation with the intelligence test, and was reliable in discriminating, among clinical cases, those with poorer cognitive abilities.CONCLUSION:The MMC could be useful as a multiprofessional screening instrument for cognitive impairment in children with hemiplegic CP. Results of the MMC in quadriplegic CP children should be interpreted with caution. Diagnosis should be confirmed by further psychological testing.

Whole-genome re-sequencing, alignment and annotation analyses were undertaken for 12 sires representing four important cattle breeds in Brazil: Guzerat (multi-purpose), Gyr, Girolando and Holstein (dairy production). A total of approximately 4.3 billion reads from an Illumina HiSeq 2000 sequencer generated for each animal 10.7 to 16.4-fold genome coverage. A total of 27,441,279 single nucleotide variations (SNVs) and 3,828,041 insertions/deletions (InDels) were detected in the samples, of which 2,557,670 SNVs and 883,219 InDels were novel. The submission of these genetic variants to the dbSNP database significantly increased the number of known variants, particularly for the indicine genome. The concordance rate between genotypes obtained using the Bovine HD BeadChip array and the same variants identified by sequencing was about 99.05%. The annotation of variants identified numerous non-synonymous SNVs and frameshift InDels which could affect phenotypic variation. Functional enrichment analysis was performed and revealed that variants in the olfactory transduction pathway was over represented in all four cattle breeds, while the ECM-receptor interaction pathway was over represented in Girolando and Guzerat breeds, the ABC transporters pathway was over represented only in Holstein breed, and the metabolic pathways was over represented only in Gyr breed. The genetic variants discovered here provide a rich resource to help identify potential genomic markers and their associated molecular mechanisms that impact economically important traits for Gyr, Girolando, Guzerat and Holstein breeding programs.

Despite advances in the characterization of developmental dyslexia (DD), several questions regarding the interplay between DD-susceptibility genes and environmental risk factors remain open. This systematic review aimed at answering the following questions: What has been the impact of new resources on the knowledge about DD? Which questions remain open? What is the investigative agenda for the short term? Forty-six studies were analyzed. Despite the growing literature on DD candidate genes, most studies have not been replicated. We found large effects on causative genes and smaller environmental contributions, involving maternal smoking during pregnancy, SES and the DYX1C1-1259C/G marker. Implications are discussed.

A primeira dificuldade enfrentada por quem se dispõe a trabalhar com neuropsicologia no Brasil é a relativa escassez de instrumentos validados disponíveis para pesquisa e diagnóstico. O segundo problema não é exclusividade da neuropsicologia brasileira, é bem mais complexo e decorre em parte daquilo que Pasquali (1997) denomina de tradição positivista da psicometria e em parte da natureza indireta dos métodos inferenciais utilizados em correlação anátomo-funcional (Haase, 2000). Estes dois fatores concorrem para dificultar a validação de construto dos instrumentos neuropsicológicos. Neste artigo são relatados os resultados

Introdução: O Shuttle walking test (SWT) foi originalmente desenvolvido para indivíduos com doença pulmonar obstrutiva crônica (DPOC). Sua aplicação na avaliação funcional em outras condições de saúde vem sendo empregada. Objetivo: Fazer uma revisão de literatura sobre o uso do Shuttle walking test na avaliação da capacidade funcional. Materiais e Métodos: A revisão da literatura foi realizada nas bases de dados Medline, Lilacs e Scielo considerando a combinação do descritor principal Shuttle walking test com os descritores em português e inglês: validade, reprodutibilidade, confiabilidade, sensibilidade, diferença mínima clinicamente significativa e prognóstico. Resultados: Foram selecionados 37 artigos que apresentavam o SWT como desfecho cardiorrespiratório de interesse nas seguintes condições de saúde: insuficiência cardíaca, doença arterial coronariana, DPOC, transplante cardíaco, doença arterial obstrutiva periférica, fibrose cística, fibrose pulmonar idiopática e pacientes com marcapasso. Conclusão: O SWT é um teste de caminhada válido, confiável e seguro para a avaliação da capacidade funcional em diversas condições de saúde. É útil na prática clínica para avaliar respostas a intervenções e prognóstico. Palavras-chave: teste de esforço; condicionamento físico humano; fisioterapia.