Browsing by Issue Date, starting with "2021-06-28"
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- Socioeconomic inequalities in overweight and obesity among 6‐ to 9‐year‐old children in 24 countries from the World Health Organization European regionPublication . Buoncristiano, Marta; Williams, Julianne; Simmonds, Philippa; Nurk, Eha; Ahrens, Wolfgang; Nardone, Paola; Rito, Ana Isabel; Rutter, Harry; Bergh, Ingunn Holden; Starc, Gregor; Jonsson, Kenisha Russell; Spinelli, Angela; Vandevijvere, Stefanie; Mäki, Päivi; Milanović, Sanja Musić; Salanave, Benoît; Yardim, Mahmut S.; Hejgaard, Tatjana; Fijałkowska, Anna; Abdrakhmanova, Shynar; Abdurrahmonova, Zulfiya; Duleva, Vesselka; Farrugia Sant'Angelo, Victoria; García‐Solano, Marta; Gualtieri, Andrea; Gutiérrez‐González, Enrique; Huidumac‐Petrescu, Constanta; Hyska, Jolanda; Kelleher, Cecily C.; Kujundžić, Enisa; Peterkova, Valentina; Petrauskiene, Ausra; Pudule, Iveta; Sacchini, Elena; Shengelia, Lela; Tanrygulyyeva, Maya; Taxová Braunerová, Radka; Usupova, Zhamilya; Maruszczak, Katharina; Ostojic, Sergej M.; Spiroski, Igor; Stojisavljević, Dragana; Wickramasinghe, Kremlin; Breda, JoãoChildhood overweight and obesity have significant short- and long-term negative impacts on children's health and well-being. These challenges are unequally distributed according to socioeconomic status (SES); however, previous studies have often lacked standardized and objectively measured data across national contexts to assess these differences. This study provides a cross-sectional picture of the association between SES and childhood overweight and obesity, based on data from 123,487 children aged 6–9 years in 24 countries in the World Health Organization (WHO) European region. Overall, associations were found between overweight/obesity and the three SES indicators used (parental education, parental employment status, and family-perceived wealth). Our results showed an inverse relationship between the prevalence of childhood overweight/obesity and parental education in high-income countries, whereas the opposite relationship was observed in most of the middle-income countries. The same applied to family-perceived wealth, although parental employment status appeared to be less associated with overweight and obesity or not associated at all. This paper highlights the need for close attention to context when designing interventions, as the association between SES and childhood overweight and obesity varies by country economic development. Population-based interventions have an important role to play, but policies that target specific SES groups are also needed to address inequalities.
- Future perspectives using Lysosomal Storage Disease iPSCs models and gene editing therapyPublication . Ribeiro, Diogo; Duarte, Ana Joana; Amaral, OlgaLysosomal storage diseases (LSDs) are characterized by accumulation of macromolecules in the late endocytic system. Their collective frequency of 1/5000 live births and are caused by inherited defects in genes that mainly encode lysosomal proteins (1). In the Portuguese population, lysosomal storage disorders (LSDs) have a prevalence of 1/4000 live births. Tay Sachs disease (TSD, MIM#272800) variant B1 is one of the most prevalent in the Portuguese population (2). The TSD variant B1 is caused by mutations on the HEXA gene (MIM#606869.0006), leading to hexosaminidase A malfunction. The mutation subject of this study, p.R178H (rs28941770), is frequent in specific populations. In the Portuguese it has a carrier frequency of 1:340, and in the North of Portugal it was estimated to be 1:119. Fabry disease ((FD, MIM#301500)) is one of the most frequent LSDs, it is caused by mutations on the GLA gene (MIM#300644), such as the mutation p.W287X (rs104894839), leading to alpha-galactosidase A impairment. Gaucher disease (GD) is also a frequent LSD and it is, usually, due to deficient activity of lysosomal acid beta glucosidase (GBA1, MIM#606463). It has several phenotypic forms (GD1, 230800; GD2, 230900; and GD3; 231000) of which the most severe are neurodegenerative and elude common therapies. In our group, we are attempting to use gene editing through CRISPR/Cas9 as a therapeutic tool to correct specific mutations involved in the abovementioned diseases. Our aim is first to obtain induced pluripotent stem cells (iPSCs) derived from these cell lines and then to correct the mutational defects.
- Revised report on national needs, objectives of a long-term HBM4EU inventory of funding mechanisms and recommendations for a sustainable HBM initiative in Europe and its organisationPublication . Vicente, Joana Lobo; Katsonouri, Andromachi; Reynders, Hans; Van Campenhout, Karen; Mampaey, Maja; Tarroja, Elena; Louro, Henriqueta; Isidro, Glória; Silva, Maria João; Namorado, Sónia; Bourqui, Martine; von Goetz, Natalie; Virgolino, Ana; Sepai, Ovnair; Hopson, AmyThis report aims to provide a revision on the national needs (T6.1), the funding mechanisms (T6.2) and the long-term sustainability of HBM4EU (T6.3). Therefore, this report is divided in the three above-mentioned sections, for which the different tasks within work package 6 (WP 6) provided input. Concerning national needs, a survey is conducted annually by the national hub (NH) coordinator to monitor and evaluate the progress and development of all National Hubs involved in HBM4EU. With 2020 being the fourth year of the HBM4EU project, the survey followed many of the questions of previous years. Most NHs are satisfied with their current HBM4EU involvement, but have expressed their concerns regarding the communication, funding and lack of direct involvement. The follow-up to HBM4EU, PARC, was mentioned and the necessary involvement of all countries as well as the importance of communication between NHs and National Hub Contact Points (NHCPs) was highlighted. Inclusivity of smaller countries seems to be a problem through both lack of funding and adequate tasks. Regarding funding mechanisms, the initial list of financing mechanisms in the HBM and environmental health area at national and international level was updated and is available on the HBM4EU website under the “Funding Opportunities” tab. This intends to be an inventory that can be used not only by the HBM4EU consortium but by the entire scientific community to provide an overview of existing funding sources. It comprises of a set of targeted strategies for identification and dissemination of funding which are explained in further detail in section 6 Funding mechanisms. A systematic literature review was also undertaken to understand what the primary funding source of projects in HBM was. The results are not available yet. As part of T6.3 on the long-term sustainability, a citizen survey was developed together with T4.1 – mapping of needs. This survey was initially used for focus groups to better understand their awareness and concerns of chemical exposure and Human Biomonitoring. It was updated to harvest more EU-wide results including chemical exposure during the COVID-19 pandemic. The survey took place between September 2020 and February 2021 and the results were organised to cover the same regions as the aligned studies to allow for the organisation of results in a similar way for coherence. In order to produce a short report summarising the outcome of the survey, the questions were grouped for quicker analysis. The majority of the respondents considers HBM a tool that produces important results on human exposure to chemicals and that it should be performed more often and in a more coordinated way. This was a non-representative survey and future work should focus on wider dissemination in other population groups and on understanding how perceptions change over time. The survey’s answers were also distributed to the NHs, so they can produce internal communication briefs on their own data for further dissemination.
- EUROlinkCAT protocol for a European population-based data linkage study investigating the survival, morbidity and education of children with congenital anomaliesPublication . Morris, Joan K; Garne, Ester; Loane, Maria; Barisic, Ingeborg; Densem, James; Latos-Bieleńska, Anna; Neville, Amanda; Pierini, Anna; Rankin, Judith; Rissmann, Anke; de Walle, Hermien; Tan, Joachim; Given, Joanne Emma; Claridge, Hugh; EUROlinkCAT ConsortiumIntroduction: Congenital anomalies (CAs) are a major cause of infant mortality, childhood morbidity and long-term disability. Over 130 000 children born in Europe every year will have a CA. This paper describes the EUROlinkCAT study, which is investigating the health and educational outcomes of children with CAs for the first 10 years of their lives. Methods and analysis: EUROCAT is a European network of population-based registries for the epidemiological surveillance of CAs. EUROlinkCAT is using the EUROCAT infrastructure to support 22 EUROCAT registries in 14 countries to link their data on births with CAs to mortality, hospital discharge, prescription and educational databases. Once linked, each registry transforms their case data into a common data model (CDM) format and they are then supplied with common STATA syntax scripts to analyse their data. The resulting aggregate tables and analysis results are submitted to a central results repository (CRR) and meta-analyses are performed to summarise the results across all registries. The CRR currently contains data on 155 594 children with a CA followed up to age 10 from a population of 6 million births from 1995 to 2014. Ethics: The CA registries have the required ethics permissions for routine surveillance and transmission of anonymised data to the EUROCAT central database. Each registry is responsible for applying for and obtaining additional ethics and other permissions required for their participation in EUROlinkCAT. Dissemination: The CDM and associated documentation, including linkage and standardisation procedures, will be available post-EUROlinkCAT thus facilitating future local, national and European-level analyses to improve healthcare. Recommendations to improve the accuracy of routinely collected data will be made.Findings will provide evidence to inform parents, health professionals, public health authorities and national treatment guidelines to optimise diagnosis, prevention and treatment for these children with a view to reducing health inequalities in Europe.