"Whole-Exome Sequencing Enables Rapid Determination of Xeroderma Pigmentosum Molecular Etiology"

Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder haracterized by extreme sensitivity to actinic pigmentation changes in the skin and increased incidence of skin cancer. In some cases, patients are affected by neurological alterations. XP is caused by mutations in 8 distinct genes (XPA through XPG and XPV). The XP-V (variant) subtype of the disease results from mutations in a gene (XPV, also named POLH) which encodes for Polg, a member of the Y-DNA polymerase family. Although the presence and severity of skin and neurological dysfunctions differ between XP subtypes, there are overlapping clinical features among subtypes such that the sub-type cannot be deduced from the clinical features. In this study, in order to overcome this drawback, we undertook whole-exome sequencing in two XP sibs and their father. We identified a novel homozygous nonsense mutation (c.897T.G, p.Y299X) in POLH which causes the disease. Our results demonstrate that next generation sequencing is a powerful approach to rapid determination of XP genetic etiology.

Equality, reasonableness and gender in the process of constitutionalization and internationalization of law

The themes of this paper are equality, reasonableness and gender rights in the dynamics of two sequential and convergent processes: the constitutionalization of judicial law, and the internationalization of constitutional law. The thesis of this paper is that in the face of non-compliance of the obligation to regulate, guarantee and protect gender rights, the best option has been to strengthen judicial law, which has enabled the development of rules for protection, the adoption of contemporary methods of interpretation and adjudication of the law, as well as the resolution of shortfalls in protection based on said processes of the constitutionalization and internationalization of local law.

Legal Sociology Reformulated: the Transformation of Law in Globalization and New Citizenship

This article seeks to demonstrate how Law inter-related with Economy, constitutes in modern societies one of the main instruments for the construction of citizen consensus or the construction of political hegemony in modern societies. If we consider this affirmation —as is argued here— the transformations suffered in recent decades by Law as a consequence of the new phase of capitalistic globalization, have played an important role in the constitution of a new subjectivity (“single thought”) in the population.

Determination of the Anthropometric and Physical Qualities Profile in Footballers Children of Bogotá

Objective. The objective of this study is to define the profile anthropometric and of basic physical qualities, in 306 children in 7-16 yearold ages. Method. Is carried out anthropometric mensurations of weight (kg) and it height (m), IMC (weight (kg)/it height (m2), percentage of corporal fat, besides the test of Course Navatte, horizontal jump without impulse, Sit and Reach to each one of the fellows. Results. The results were analyzed from the statistical point of view with measures of central tendency, you uses the stocking, the typical standard deviation as I calculate of variability, with a p <0,05 like significant difference. You identifies the variable anthropometric and of physical qualities finding differences in the population as for the percentage of corporal fat, the power aerobic, the flexibility and the explosive force in inferior members. Conclusions. Differences are shown in the opposing values and this can be influenced, for nutritional, socioeconomic factors and for the type of used training.