This is My Baby Interview: an adaptation to the spanish language and culture

INTRODUCTION: Evaluating the emotional state of the parents is important for determining the intervention in the context of a family with a baby with Down syndrome. "This is my baby" is an interview that measures the acceptance, commitment and awareness of influence of parents towards their baby. The Spanish adaptation of this instrument helps to better understand the emotional state of parents of children with developmental disorders. PATIENTS AND METHODS: This is a transcultural adaptation and determination of the reliability, sensitivity to change, and internal consistency of the “This Is My Baby” interview. A cross-cultural adaptation and reliability analysis was carried out. A total of 32 families of babies with Down syndrome participated in this multicenter study. RESULTS: The values obtained for the intraclass correlation coefficient (ICC) indicated a good level of concordance with a significative level of p < 0.001, and the values of the standard error of measurement (SEM) and of the minimum detectable change (MDC) were reduced. The weighted Kappa coefficient showed values that were moderate to excellent. CONCLUSION: The results suggest that the Spanish version of the This Is My Baby interview is a reliable instrument to measure the levels of acceptance, commitment, and awareness of influence of parents of an infant with Down syndrome.Universidad de Málaga. Campus de Excelencia Internacional Andalucía Tech

Healthcare recommendations from the Personalised ICT Supported Service for Independent Living and Active Ageing (PERSSILAA) Study

In the face of demographic ageing European healthcare providers and policy makers are recognising an increasing prevalence of frail, community-dwelling older adults, prone to adverse healthcare outcomes. Prefrailty, before onset of functional decline, is suggested to be reversible but interventions targeting this risk syndrome are limited. No consensus on the definition, diagnosis or management of pre-frailty exists. The PERsonalised ICT Supported Service for Independent Living and Active Ageing (PERSSILAA) project (2013-2016 under Framework Programme 7, grant #610359) developed a comprehensive Information and Communication Technologies (ICT) supported platform to screen, assess, manage and monitor pre-frail community-dwelling older adults in order to address pre-frailty and promote active and healthy ageing. PERSSILAA, a multi-domain ICT service, targets three pre-frailty: nutrition, cognition and physical function. The project produced 42 recommendations across clinical (screening, monitoring and managing of pre-frail older adults) technical (ICT-based innovations) and societal (health literacy in older adults, guidance to healthcare professional, patients, caregivers and policy makers) areas. This paper describes the 25 healthcare related recommendations of PERSSILAA, exploring how they could be used in the development of future European guidelines on the screening and prevention of frailty

HERC1 Ubiquitin Ligase Is Required for Normal Axonal Myelination in the Peripheral Nervous System

A missense mutation in HERC1 provokes loss of cerebellar Purkinje cells, tremor, and unstable gait in tambaleante (tbl) mice. Recently, we have shown that before cerebellar degeneration takes place, the tbl mouse suffers from a reduction in the number of vesicles available for release at the neuromuscular junction (NMJ). The aim of the present work was to study to which extent the alteration in HERC1 may affect other cells in the nervous system and how this may influence the motor dysfunction observed in these mice. The functional analysis showed a consistent delay in the propagation of the action potential in mutant mice in comparison with control littermates. Morphological analyses of glial cells in motor axons revealed signs of compact myelin damage as tomacula and local hypermyelination foci. Moreover, we observed an alteration in non-myelinated terminal Schwann cells at the level of the NMJ. Additionally, we found a significant increment of phosphorylated Akt-2 in the sciatic nerve. Based on these findings, we propose a molecular model that could explain how mutated HERC1 in tbl mice affects the myelination process in the peripheral nervous system. Finally, since the myelin abnormalities found in tbl mice are histological hallmarks of neuropathic periphery diseases, tbl mutant mice could be considered as a new mouse model for this type of diseases

New insights into the genetic etiology of Alzheimer’s disease and related dementias

Characterization of the genetic landscape of Alzheimer’s disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/‘proxy’ AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele

New insights into the genetic etiology of Alzheimer’s disease and related dementias

Characterization of the genetic landscape of Alzheimer’s disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/‘proxy’ AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele