Impairment experiences, identity and attitudes towards genetic screening : the views of people with Spinal Muscular Atrophy

Developments in genetics are rapidly changing the capacity and scope of screening practices. However, people with genetic conditions have been under-represented in the literature exploring their implications. This mixed methods study explores the attitudes of people with Spinal Muscular Atrophy (SMA) towards three different population-level genetic screening programmes for SMA: pre-conception, prenatal and newborn. Drawing on qualitative interviews (n= 15) and a survey (n=82), this study demonstrates that more severely affected individuals with early-onset symptoms (Type II SMA), are less likely to support screening and more likely to view SMA positively than those with milder, later onset and/or fluctuating symptoms (Types III/ IV SMA). Indeed, this clinically milder group were more likely to support all forms of screening and view SMA negatively. This paper highlights that screening is a complex issue for people with genetic conditions, and the nature of impairment experiences plays a critical role in shaping attitudes

A multidisciplinary program of preparation for childbirth and motherhood: maternal anxiety and perinatal outcomes

Background: To study maternal anxiety and perinatal outcomes in pregnant women submitted to a Multidisciplinary Program for Childbirth and Motherhood Preparation (MPCM).Methods: This is a not randomized controlled trial on 67 nulliparous pregnant women divided into two groups according to participation (MPCM Group; n = 38) or not (Control Group; n = 29) in MPCM. the program consisted of 10 meetings (between the 18th and the 38th gestational week) during which educational, physiotherapeutic and interaction activities were developed. Anxiety was quantified at the beginning and at the end of the gestational period by the Trace-State Anxiety Inventory (STAI).Results: Initial maternal anxiety was equivalent between the groups. At the end of the gestational period, it was observed that anxiety levels increased in the Control Group and were maintained in the MPCM Group. A higher occurrence of vaginal deliveries (83.8%) and hospital discharge of three-day-older newborns (81.6%) as a result of MPCM was also significant. Levels of state-anxiety at the end of pregnancy showed a negative correlation with vaginal delivery, gestational age, birth weight and Apgar index at the first minute and positive correlation with the hospital period remaining of the newborns.Conclusion: in the study conditions, MPCM was associated with lower levels of maternal anxiety, a larger number of vaginal deliveries and shorter hospitalization time of newborns. It was not related to adverse perinatal outcomes.Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)Univ Estadual Paulista, Botucatu Sch Med, Dept Neurol Psychol & Psychiat, Botucatu, SP, BrazilUniv Estadual Paulista, Botucatu Sch Med, Dept Gynecol & Obstet, Botucatu, SP, BrazilUniv Sagrado Coracao, Dept Hlth Sci, Physiotherapy Sch, Bauru, BrazilSão Paulo Fed Univ Unifesp, Dept Hlth Sci, Phys Therapy Program, Santos, BrazilSão Paulo Fed Univ Unifesp, Dept Hlth Sci, Phys Therapy Program, Santos, BrazilWeb of Scienc

Lipid Classes and Fatty Acid Patterns are Altered in the Brain of γ-Synuclein Null Mutant Mice

The well-documented link between α-synuclein and the pathology of common human neurodegenerative diseases has increased attention to the synuclein protein family. The involvement of α-synuclein in lipid metabolism in both normal and diseased nervous system has been shown by many research groups. However, the possible involvement of γ-synuclein, a closely-related member of the synuclein family, in these processes has hardly been addressed. In this study, the effect of γ-synuclein deficiency on the lipid composition and fatty acid patterns of individual lipids from two brain regions has been studied using a mouse model. The level of phosphatidylserine (PtdSer) was increased in the midbrain whereas no changes in the relative proportions of membrane polar lipids were observed in the cortex of γ-synuclein-deficient compared to wild-type (WT) mice. In addition, higher levels of docosahexaenoic acid were found in PtdSer and phosphatidylethanolamine (PtdEtn) from the cerebral cortex of γ-synuclein null mutant mice. These findings show that γ-synuclein deficiency leads to alterations in the lipid profile in brain tissues and suggest that this protein, like α-synuclein, might affect neuronal function via modulation of lipid metabolism

Automated office blood pressure measurements in primary care are misleading in more than one third of treated hypertensives: The VALENTINE-Greece Home Blood Pressure Monitoring study

Abstract Background This study assessed the diagnostic reliability of automated office blood pressure (OBP) measurements in treated hypertensive patients in primary care by evaluating the prevalence of white coat hypertension (WCH) and masked uncontrolled hypertension (MUCH) phenomena. Methods Primary care physicians, nationwide in Greece, assessed consecutive hypertensive patients on stable treatment using OBP (1 visit, triplicate measurements) and home blood pressure (HBP) measurements (7 days, duplicate morning and evening measurements). All measurements were performed using validated automated devices with bluetooth capacity (Omron M7 Intelli-IT). Uncontrolled OBP was defined as ≥140/90 mmHg, and uncontrolled HBP was defined as ≥135/85 mmHg. Results A total of 790 patients recruited by 135 doctors were analyzed (age: 64.5 ± 14.4 years, diabetics: 21.4%, smokers: 20.6%, and average number of antihypertensive drugs: 1.6 ± 0.8). OBP (137.5 ± 9.4/84.3 ± 7.7 mmHg, systolic/diastolic) was higher than HBP (130.6 ± 11.2/79.9 ± 8 mmHg; difference 6.9 ± 11.6/4.4 ± 7.6 mmHg, p Conclusions In primary care, automated OBP measurements are misleading in approximately 40% of treated hypertensive patients. HBP monitoring is mandatory to avoid overtreatment of subjects with WCH phenomenon and prevent undertreatment and subsequent excess cardiovascular disease in MUCH

“Curing the Limbo”: The Challenges of a Multi-Partner Collaboration

The present article describes an organization in the making, in the context of the “Curing the Limbo” multipartner project, addressing the inclusion of refugees in Greek society. It discusses a capacity-building intervention that lasted for the entire three-year duration of the project, aiming at enhancing collaborative processes between actors with diverse perspectives and multiple voices. It highlights the relational dynamics within and between the partners involved, the effects of the social and political forces at play, the many challenges encountered, and the practices adopted toward social organizing and change. © Thalia Dragonas, Charalampos Poulopoulos, Published by Common Ground Research Networks. Attribution License, (CC BY 4.0)

Grounding Childhood (Trans)National Identities in the Everyday

This paper engages with the lived and experiential aspects of (trans)national identities in childhood, through the exploration of an ethnographic biography of a Greek-Albanian boy in Athens. Through a grounded ethnographic approach, we examine the ways in which he experiences and negotiates his (trans)national identity. Our analysis demonstrates the everyday subtle and sophisticated understanding of the complexities and contradictions of national identities, and the child's own positioning within that. In conclusion, we suggest that interdisciplinary approaches should be assumed in the study of (trans)national identities in childhood, and ones that are grounded in children's own meaning making of their experiences of such identities. © 2018 John Wiley & Sons Ltd and National Children's Burea