Repercussões na saúde física e comportamentos de risco em mulheres vítimas de violência conjugal

O presente estudo teve como objetivos avaliar as repercussões ao nível da saúde física, particularmente quanto ao autorrelato de queixas físicas e de somatização, e a ocorrência de comportamentos de risco em mulheres vítimas de violência conjugal. A amostra é composta por 65 mulheres que recorreram à Associação Portuguesa de Apoio à Vítima (APAV) - gabinete de Braga, por terem sofrido algum tipo de violência conjugal. As participantes preencheram a versão portuguesa dos seguintes instrumentos: Revised Conflict Tactics Scales (CTS2), Rotterdam Symptom Checklist (RSCL) e Brief Symptom Inventory (BSI), para além de um questionário sociodemográfico e questões relativas aos comportamentos de risco. Os resultados indicam que os diferentes tipos de abuso se encontram associados a diferentes consequências na saúde e comportamentos de risco. Assim, as mulheres vítimas de abuso físico sem sequelas apresentam mais queixas físicas e somatização, as que reportam abuso físico com sequelas consumem mais tabaco e as que experienciaram mais agressão psicológica relatam um maior consumo de droga. Neste sentido, é de enfatizar a intervenção direcionada à promoção da qualidade das relações de intimidade e de resolução de conflitos conjugais, de forma a prevenir a ocorrência de violência conjugal, assim como programas de promoção da saúde junto das vítimas, para prevenir ou reduzir as consequências nefastas para a saúde e os comportamentos de risco associados.The present paper aimed to evaluate physical health repercussions, in particular self-reported physical complaints and somatization, and the occurrence of risk behaviours concerning health of women involved in IPV. The sample consists of 65 women involved in intimate partner violence relationship, who addressed to Associação Portuguesa de Apoio à Vítima (APAV) – Braga’s office. The participants filled the Portuguese version of the following instruments: Revised Conflict Tactics Scales (CTS2), Rotterdam Symptom Checklist (RSCL), and Brief Symptom Inventory (BSI), besides, a socio-demographic inquiry and some questions concerning risk behaviours where also filled. The results demonstrate that different types of abuse are associated with different consequences concerning health and risk behaviours. Thus, women victims of physical abuse without injury present more physical complaints and somatization, those who experience physical abuse with injury exhibit increased tobacco consumption, and those who experience increased psychological aggression report increased drug abuse. In this regard, as a mean to prevent the occurrence of intimate partner violence emphasis should be given to the development of programs that promote quality in intimate relationships, programs that promote resolution of intimate conflict, as well as programs that improve victim’s health, such programs should aim minimization and prevention of negative health consequences and risk behaviours

Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype

Familial hypercholesterolemia (FH) is a common genetic disorder of lipid metabolism caused by pathogenic/likely pathogenic variants in LDLR, APOB, and PCSK9 genes. Variants in FH-phenocopy genes (LDLRAP1, APOE, LIPA, ABCG5, and ABCG8), polygenic hypercholesterolemia, and hyperlipoprotein (a) [Lp(a)] can also mimic a clinical FH phenotype. We aim to present a new diagnostic tool to unravel the genetic background of clinical FH phenotype. Biochemical and genetic study was performed in 1,005 individuals with clinical diagnosis of FH, referred to the Portuguese FH Study. A next-generation sequencing panel, covering eight genes and eight SNPs to determine LDL-C polygenic risk score and LPA genetic score, was validated, and used in this study. FH was genetically confirmed in 417 index cases: 408 heterozygotes and 9 homozygotes. Cascade screening increased the identification to 1,000 FH individuals, including 11 homozygotes. FH-negative individuals (phenotype positive and genotype negative) have Lp(a) >50 mg/dl (30%), high polygenic risk score (16%), other monogenic lipid metabolism disorders (1%), and heterozygous pathogenic variants in FH-phenocopy genes (2%). Heterozygous variants of uncertain significance were identified in primary genes (12%) and phenocopy genes (7%). Overall, 42% of our cohort was genetically confirmed with FH. In the remaining individuals, other causes for high LDL-C were identified in 68%. Hyper-Lp(a) or polygenic hypercholesterolemia may be the cause of the clinical FH phenotype in almost half of FH-negative individuals. A small part has pathogenic variants in ABCG5/ABCG8 in heterozygosity that can cause hypercholesterolemia and should be further investigated. This extended next-generation sequencing panel identifies individuals with FH and FH-phenocopies, allowing to personalize each person’s treatment according to the affected pathway

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