23 documents found, page 1 of 3

Avaliação das aprendizagens nas aulas de Ciências Naturais e Biologia e Geologi...

A avaliação das (e para as) aprendizagens tem vindo a assumir uma presença cada vez maior no campo da investigação em Educação. Uma das premissas incontornáveis assume que, ao contrário do que ainda se continua a verificar, a avaliação não deve ser entendida como extrínseca ao processo de ensino e de aprendizagem, pois encontra-se intimamente ligada aos componentes que envolvem o ato de ensinar e de aprender. O...

A de novo paradigm for male infertility

De novo mutations are known to play a prominent role in sporadic disorders with reduced fitness. We hypothesize that de novo mutations play an important role in severe male infertility and explain a portion of the genetic causes of this understudied disorder. To test this hypothesis, we utilize trio-based exome sequencing in a cohort of 185 infertile males and their unaffected parents. Following a systematic an...

Immune and spermatogenesis-related loci are involved in the development of extr...

We conducted a genome-wide association study in a large population of infertile men due to unexplained spermatogenic failure (SPGF). More than seven million genetic variants were analysed in 1,274 SPGF cases and 1,951 unaffected controls from two independent European cohorts. Two genomic regions were associated with the most severe histological pattern of SPGF, defined by Sertoli cell-only (SCO) phenotype, name...

Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men w...

Male infertility impacts millions of couples yet, the etiology of primary infertility remains largely unknown. A critical element of successful spermatogenesis is maintenance of genome integrity. Here, we present a genomic study of spermatogenic failure (SPGF). Our initial analysis (n=176) did not reveal known gene-candidates but identifed a potentially signifcant single-nucleotide variant (SNV) in X-linked ger...

Intronic variation of the SOHLH2 gene confers risk to male reproductive impairment

Objective: To evaluate whether SOHLH2 intronic variation contributes to the genetic predisposition to male infertility traits, including severe oligospermia (SO) and different nonobstructive azoospermia (NOA) clinical phenotypes. Design: Genetic association study. Setting: Not applicable. Patient(s): Five hundred five cases (455 infertile patients diagnosed with NOA and 50 with SO) and 1,050 healthy controls fr...

Social Investment in an Age of Austerity: A Comparison of Family Policy Reforms...

The focus of this article is on family policy reforms in four European countries – Austria, Finland, Portugal, and Slovenia – between 2008 and 2015. These years were marked by the ‘Great Recession’, and by the rise of the social-investment perspective. Social investment is an umbrella concept, though, and it is also somewhat ambiguous. This article distinguishes between different social-investment variants, whi...

Notas Finais

Professional communities as educational spaces: insights into Projeto Creche

This study aims to characterize the learning context of the Projeto Creche during the first three years. This project brings together childhood educators and academics around issues related to childhood education. To accomplish this central objective, first it is outlined a theoretical framework about professional communities and, later, it is analyzed the specific case of the project. Through the reports writt...

Comunidades profissionais enquanto espaços formativos: olhares sobre o (e a par...

O presente estudo objetiva caracterizar o contexto formativo estabelecido pelo Projeto Creche nos seus primeiros três anos de existência, um grupo que reúne educadoras e académicos em torno de questões relacionadas com a educação para a infância. Para tal, parte-se de um enquadramento teórico construído em torno de questões relacionadas com as comunidades profissionais, mais particularmente sobre as suas dinâmi...

Portuguese Report. In-depth analysis of three family policy changes

The following 3 policy measures/developments have been selected for analysis in Portugal: • Delegation to local level (municipalities, local councils, schools etc.): the aim is to understand how local councils and other institutions such as schools or civil society organizations are stepping in to support needy families in times of crisis. Which strategies are being implemented at a local level to compensate fo...