Manejo de la enfermedad de Parkinson y otros trastornos del movimiento en mujeres en edad fértil: Parte 1

IntroductionThe main challenge of Parkinson's disease in women of childbearing age is managing symptoms and drugs during pregnancy and breastfeeding. The increase in the age at which women are having children makes it likely that these pregnancies will become more common in future.ObjectivesThis study aims to define the clinical characteristics of women of childbearing age with Parkinson's disease and the factors affecting their lives, and to establish a series of guidelines for managing pregnancy in these patients.ResultsThis consensus document was developed through an exhaustive literature search and a discussion of the available evidence by a group of movement disorder experts from the Spanish Society of Neurology.ConclusionsParkinson's disease affects all aspects of sexual and reproductive health in women of childbearing age. Pregnancy should be well planned to minimise teratogenic risk. A multidisciplinary approach should be adopted in the management of these patients in order to take all relevant considerations into account.     

Child and parent perspectives of life quality of children with physical impairments compared with non-disabled peers

Background: Life quality has become a widely used concept within rehabilitation and occupational therapy practice.

Aim: This study explored child and parent perspectives of life quality of children with physical impairments compared with a group of non-disabled children.

Method: Data were collected with the Icelandic self- and proxy-reported versions of the KIDSCREEN-27. For children with physical impairments, reports from 34 children and 40 parents were included in the analyses, and in control group reports from 429 children and 450 parents were included.

Results: Children with physical impairments evaluated their life quality within the average range on four out of five life quality dimensions. The lowest scores were within the physical well-being dimension. Self-reported scores of children with physical impairments were higher than those of their parents on all dimensions except autonomy and parent relations. Thus, the parents considered more environmental and personal factors to negatively influence their child’s life quality than children did themselves.

Conclusion: Children with physical impairments experience their life quality similarly to non-disabled children.

Significance: Focus on life quality can help occupational therapists to identify what circumstances positively or negatively influence client well-being and to focus more on contextual factors that contribute to disablement.     

Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project

IntroductionLarge variability among Alzheimer's disease (AD) cases might impact genetic discoveries and complicate dissection of underlying biological pathways.MethodsGenome Research at Fundacio ACE ([email protected]) is a genome-wide study of dementia and its clinical endophenotypes, defined based on AD's clinical certainty and vascular burden. We assessed the impact of known AD loci across endophenotypes to generate loci categories. We incorporated gene coexpression data and conducted pathway analysis per category. Finally, to evaluate the effect of heterogeneity in genetic studies, [email protected] series were meta-analyzed with additional genome-wide association study data sets.ResultsWe classified known AD loci into three categories, which might reflect the disease clinical heterogeneity. Vascular processes were only detected as a causal mechanism in probable AD. The meta-analysis strategy revealed the ANKRD31-rs4704171 and NDUFAF6-rs10098778 and confirmed SCIMP-rs7225151 and CD33-rs3865444.DiscussionThe regulation of vasculature is a prominent causal component of probable AD. [email protected] meta-analysis revealed novel AD genetic signals, strongly driven by the presence of clinical heterogeneity in the AD series.     

Molecular influenza surveillance at a tertiary university hospital during four consecutive seasons (2012–2016) in Catalonia,Spain

Background

Influenza viruses (FLUV) are continuously evolving, which explain the occurrence of seasonal influenza epidemics and the need to review the vaccine strain composition annually. The aim is to describe the genetic diversity and clinical outcomes of FLUV detected at a tertiary university hospital in Barcelona (Spain) during the 2012–2016 seasons.