10 documents found, page 1 of 1

Is optimal always optimal? Chronotype, time-of-day, and children's cognitive pe...

Evening screen time, sleep and diurnal type in preschool and primary school chi...

Do Larks and owls feel better at their optimal times of day? An exploratory stu...

Avaliação sensorial do queijo: Definição dos atributos de qualidade

O queijo Serpa é um queijo curado, de pasta semimole, com Designação de Origem Protegida (DOP), obtido por esgotamento lento da coalhada após a coagulação do leite cru de ovelha, por acção de uma infusão de Cynara cardunculus L.. A avaliação sensorial, como o próprio nome nos induz, pode ser definida por uma trilogia que envolve o indivíduo, o produto e a avaliação propriamente dita. A relação estabelecida por ...

Sequence analysis of 5' regulatory regions of the Machado-Joseph Disease gene (...

Machado–Joseph disease (MJD) is a late-onset autosomal dominant neurodegenerative disorder, which is caused by a coding (CAG)n expansion in the ATXN3 gene (14q32.1). The number of CAG repeats in the expanded alleles accounts only for 50 to 75 % of onset variance, the remaining variation being dependent on other factors. Differential allelic expression of ATXN3 could contribute to the explanation of different ag...

The APOE ε2 allele increases the risk of Earlier Age at onset in Machado-Joseph...

Background. Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative disorder of late onset, caused by a (CAG)n expansion at the ATXN3 gene (14q32.1). Variation in age-at-onset is partially explained by the size of the (CAG)n tract in expanded alleles. The remaining variation should be the product of other factors, namely modifier genes. The genotype at the APOE locus has been described as a poss...

Hemotórax espontâneo como forma de apresentação de Síndrome de Ehlers-Danlos

A síndrome de Ehlers-Danlos é uma entidade clínica caracterizada por hipermobilidade articular, lassidão e fragilidade cutânea resultante de alterações do tecido conjuntivo. São descritos seis tipos principais, com base em dados clínicos, no modo de transmissão hereditária e alterações bioquímicas e moleculares subjacentes. Os autores apresentam um caso clínico referente a uma doente do sexo feminino, de 44 ano...

Spontaneous haemothorax as the clinical onset of Ehlers-Danlos Syndrome

Ehlers-Danlos syndrome is a disease characterized by joint hypermobility, increased skin elasticity and fragility due to a connective tissue disorder. There are 6 main types, distinguished on the basis of clinical signs, mode of inheritance, biochemical abnormalities and underlying molecular abnormalities.The authors report the case of a female, 44 years-old, who presented with a 2- month chest pain, due to a s...

Analysis of Y-chromosome Variability and its Comparison with mtDNA Variability ...

We determined the Y-chromosomal composition of the population of the Azores Islands (Portugal), by analyzing 20 binary polymorphisms located in the non-recombining portion of the Y-chromosome (NRY), in 185 unrelated individuals from the three groups of islands forming the Archipelago (Eastern, Central and Western). Similar to that described for other Portuguese samples, the most frequent haplogroups were R1(xR1...

Population genetics of wild-type CAG repeats in the Machado-Joseph disease gene...

To gain insights on the molecular mechanisms of mutation that led to the emergence of expanded alleles in the MJD gene, by studying the behavior of wild-type alleles and testing the association of its distribution with the representation of the disease. Methods: The number of CAG motifs in the MJD gene was determined in a representative sample of 1000 unrelated individuals. Associations between the repeat size ...