Exposure to violence in intimate relationships - a clinical case

As crianças que vivem expostas a violência em relações de intimidade são muitas vezes consideradas “vítimas indiretas” e durante muito tempo foi difícil enquadrá-las em algum tipo de abuso. Atualmente considera-se que o abuso emocional inclui a violência interparental que é testemunhada pelos menores. Apresenta-se o caso de uma criança exposta de forma recorrente a violência física e emocional do pai dirigida à mãe. Pretende-se com o caso clínico alertar para a necessidade de desenvolver estratégias de sensibilização para o rastreio ativo ao nível da consulta de pediatria e dos cuidados de saúde primários de situações de abuso, nomeadamente de exposição a violência em relações de intimidade. A violência doméstica é um crime público e inclui as situações de exposição a violência nas relações de intimidade, sendo este um aspeto determinante na transmissão intergeracional deste tipo de comportamento. É urgente quebrar estes ciclos de violência e orientar quer as vítimas, quer os agressores.info:eu-repo/semantics/publishedVersio

Relatório de Estágio da Prática Clínica de Pediatría do 6.º ano

Mestrado Integrado em MedicinaMaster Degree in Medicin

Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies

Abstract Background We describe a female infant with Fragile-X syndrome, with a fully expanded FMR1 allele and preferential inactivation of the homologous X-chromosome carrying a de novo deletion. This unusual and rare case demonstrates the importance of a detailed genomic approach, the absence of which could be misguiding, and calls for reflection on the current clinical and diagnostic workup for developmental disabilities. Case presentation We present a female infant, referred for genetic testing due to psychomotor developmental delay without specific dysmorphic features or relevant family history. FMR1 mutation screening revealed a methylated full mutation and a normal but inactive FMR1 allele, which led to further investigation. Complete skewing of X-chromosome inactivation towards the paternally-inherited normal-sized FMR1 allele was found. No pathogenic variants were identified in the XIST promoter. Microarray analysis revealed a 439 kb deletion at Xq28, in a region known to be associated with extreme skewing of X-chromosome inactivation. Conclusions Overall results enable us to conclude that the developmental delay is the cumulative result of a methylated FMR1 full mutation on the active X-chromosome and the inactivation of the other homologue carrying the de novo 439 kb deletion. Our findings should be taken into consideration in future guidelines for the diagnostic workup on the diagnosis of intellectual disabilities, particularly in female infant cases

Characterisation of microbial attack on archaeological bone

As part of an EU funded project to investigate the factors influencing bone preservation in the archaeological record, more than 250 bones from 41 archaeological sites in five countries spanning four climatic regions were studied for diagenetic alteration. Sites were selected to cover a range of environmental conditions and archaeological contexts. Microscopic and physical (mercury intrusion porosimetry) analyses of these bones revealed that the majority (68%) had suffered microbial attack. Furthermore, significant differences were found between animal and human bone in both the state of preservation and the type of microbial attack present. These differences in preservation might result from differences in early taphonomy of the bones. © 2003 Elsevier Science Ltd. All rights reserved