Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010

Neonatal screening (NBS) was initiated in Europe during the 1960s with the screening for phenylketonuria. The panel of screened disorders (“conditions”) then gradually expanded, with a boost in the late 1990s with the introduction of tandem mass spectrometry (MS/MS), making it possible to screen for 40–50 conditions using a single blood spot. The most recent additions to screening programmes (screening for cystic fibrosis, severe combined immunodeficiency and spinal muscular atrophy) were assisted by or realised through the introduction of molecular technologies. For this survey, we collected data from 51 European countries. We report the developments between 2010 and 2020 and highlight the achievements reached with the progress made in this period. We also identify areas where further progress can be made, mainly by exchanging knowledge and learning from experiences in neighbouring countries. Between 2010 and 2020, most NBS programmes in geographical Europe matured considerably, both in terms of methodology (modernised) and with regard to the panel of conditions screened (expanded). These developments indicate that more collaboration in Europe through European organisations is gaining momentum. We can only accomplish the timely detection of newborn infants potentially suffering from one of the many rare diseases and take appropriate action by working together

Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010

Neonatal screening (NBS) was initiated in Europe during the 1960s with the screening for phenylketonuria. The panel of screened disorders ("conditions") then gradually expanded, with a boost in the late 1990s with the introduction of tandem mass spectrometry (MS/MS), making it possible to screen for 40-50 conditions using a single blood spot. The most recent additions to screening programmes (screening for cystic fibrosis, severe combined immunodeficiency and spinal muscular atrophy) were assisted by or realised through the introduction of molecular technologies. For this survey, we collected data from 51 European countries. We report the developments between 2010 and 2020 and highlight the achievements reached with the progress made in this period. We also identify areas where further progress can be made, mainly by exchanging knowledge and learning from experiences in neighbouring countries. Between 2010 and 2020, most NBS programmes in geographical Europe matured considerably, both in terms of methodology (modernised) and with regard to the panel of conditions screened (expanded). These developments indicate that more collaboration in Europe through European organisations is gaining momentum. We can only accomplish the timely detection of newborn infants potentially suffering from one of the many rare diseases and take appropriate action by working together

Structure/function analysis of Type I interferons

EThOS - Electronic Theses Online ServiceGBUnited Kingdo

[Neonatal screening in Europe revisited: An ISNS-perspective on the current state and developments since 2010].

Le dépistage néonatal a débuté en Europe dans les années 1960 avec celui de la phénylcétonurie. Le nombre de maladies dépistées a, par la suite, augmenté progressivement, de manière plus marquée à la fin des années 1990 avec l’arrivée de la spectrométrie de masse en tandem (MS/MS) qui a permis le dépistage de 40 à 50 maladies sur une seule goutte de sang séché. Les ajouts les plus récents à cette liste de maladies (mucoviscidose, déficits immunitaires combinés sévères et atrophie musculaire spinale) ont été rendus possibles grâce à la génétique moléculaire. À partir des informations provenant de 51 pays d’Europe, nous décrivons dans cette revue l’évolution du dépistage entre 2010 et 2020, ainsi que les progrès réalisés pendant cette période, tout en soulignant les aspects qui méritent d’être améliorés. Des progrès pourront en effet être accomplis grâce aux échanges d’informations et, pour certains pays, en tirant profit de l’expérience acquise dans des pays voisins. La plupart des programmes de dépistage mis en place dans l’Europe « géographique » au cours de cette période ont gagné en maturité en termes méthodologiques (modernisation des techniques) et en termes quantitatifs (augmentation du nombre des maladies dépistées). Ces développements nous montrent que la collaboration entre les différentes organisations s’accélère en Europe. Ce n’est qu’en travaillant ensemble que nous pourrons identifier en temps opportun les nouveau-nés atteints d’une des nombreuses maladies rares détectables et prendre les mesures qui s’imposent

Non-inferiority of liquid thyroxine in comparison to tablets formulation in the treatment of children with congenital hypothyroidism

Objectives The aim of the current prospective randomized control study was to assess efficacy, safety, and non-inferiority of a new liquid L-thyroxine formulation dissolved in glycerol and water (T4(R) drops, produced by a Greek pharmaceutical Company, Uni-Pharma, Athens, Greece) in comparison to the standard Tablets form (T4(R) tablets, Uni-Pharma, Athens, Greece) in the substitutive treatment of children with congenital hypothyroidism (CH). Methods Thirty-nine children with CH, aged 3-12 years old, were enrolled in the study, after parental Informed Consent has been obtained, while three patients were lost from follow-up. At baseline, all participants had normal thyroid-stimulating hormone (TSH) and Free T4 values. Patients were randomly subdivided according to the assigned treatment in Group A (n=17)-Tablet Form and Group B (n=19)-Liquid Form. TSH and Free T4 levels were evaluated at 0, 2, 4, and 6 months. Results TSH values showed a statistically significant difference (p=0.017) between groups only at six months (Group A having higher TSH levels than Group B, albeit within the normal range), while Free T4 levels had no statistical difference throughout the six month study period and were always within the normal range. Moreover, dose adjustments were more frequent in Group A (p=0.038) during the six months. Liquid L-thyroxine substitutive treatment exhibited no statistically significant adverse effects in comparison to the widely used tablets. Conclusions Levothyroxine (LT4) as liquid solution formulation is safe and noninferior to the widely used L-thyroxine Tablets, with less need for dose adjustment, and can therefore be safely used in the treatment of children with CH

Criteria of social well-being: universalism and problems of socio-cultural dimension

Статья посвящена проблеме поиска критериев социального благополучия и выработке методологических принципов изучения данного явления. Актуальность исследования социального благополучия обусловлена сложившейся в современном обществе системой приоритетов, их нацеленностью на повышение качества жизни и решение социальных проблем. Слабая разработанность понятия благополучия, неоднозначность оценок, существование различных подходов к пониманию данного явления, множественность теоретических моделей определяют актуальность настоящего исследования и в научном плане. Цель работы: проанализировать сложившиеся в социально-экономических и психологических областях знания подходы к выявлению критериев социального благополучия, дать их критическую оценку, наметить пути решения проблемы. Методы: аналитический и компаративный методы исследования, позволившие сравнить объективистский подход к изучению социального благополучия с субъективным. Результаты. Сравнительный анализ сложившихся в научной среде позиций позволил обнаружить недостаточность как социально-экономического, так и психологического понимания социального благополучия. Сделан вывод об ограниченности универсалистских критериев социального благополучия и необходимости их дифференциации с учетом влияния социокультурных и исторических факторов, а также групповой принадлежности индивидов. Выявлена важная роль идентичности и эстетического выбора личности в формировании ее потребностей и определении значимого как критерия социального благополучия, которое закрепляется на путях легитимации группой сделанного индивидом выбора.This article is devoted to the problem of finding criteria for social well-being and development of methodological principles for studying this phenomenon. This study is relevant because the current system of priorities in modern society is aimed at improving the quality of life and solving social problems. The insufficientdevelopment of the concept of well-being, the ambiguity of assessments, the existence of different approachesto understanding this phenomenon, the multiplicity of theoretical models determine the relevance of thisstudy in scientific terms. The aim of the study is to analyze the existing approaches of identifying the wellbeing in the socioeconomic and psychological areas of knowledge. It is supposed to give their critical assessment and outline ways to solve the problem. Methods. This article uses analytical and comparative methodsto compare objectivist and subjective approaches to the study of social well-being. Results. A comparativeanalysis of the existing scientific positions revealed the insufficiency of socio-economic and psychological understanding of social well-being. The article makes a conclusion about the limitations of universalistic criteria of social well-being and the need for their differentiation, taking into account the influence of sociocultural and historical factors, as well as group belonging of individuals. It is important to note the role ofidentity and aesthetic choice of an individual in creating his/her needs and determining what is significantfor him/her as a criterion of social well-being. The group’s legitimation of the individual choice establishesthe social nature of the criteria for well-being

The Impact of Information on Doctors’ Attitudes Toward Generic Drugs

The objective of this study is to assess the impact of information on doctors’ attitudes and perceptions toward generics. A cross-sectional survey based on a specially designed 21-item questionnaire was conducted. The survey involved doctors of different specialties working in a public hospital in Greece. The analysis includes descriptive and inferential statistics, reliability and validity tests, as well as structural equation modeling to evaluate the causal model. Statistical analysis was accomplished by using SPSS 20 and Amos 20. A total of 134 questionnaires out of 162 were received, providing a response rate of 82.71%. A number of significant associations were found between information and perceptions about generic medicines with demographic characteristics. It seems that the provision of quality information on generic drugs influences doctors’ attitudes and prescription practices toward generic drugs. This is not a static process but a rather dynamic issue involving information provision policies for strengthening the proper doctors’ attitudes toward generic drugs

Cost-effective production of a vaginal protein microbicide to prevent HIV transmission

A series of small-molecule microbicides has been developed for vaginal delivery to prevent heterosexual HIV transmission, but results from human clinical trials have been disappointing. Protein-based microbicides, such as HIV-specific monoclonal antibodies, have been considered as an alternative approach. Despite their promising safety profile and efficacy, the major drawback of such molecules is the economy of large-scale production in mammalian cells, the current system of choice. Here, we show that an alternative biomanufacturing platform is now available for one of the most promising anti-HIV antibodies (2G12). Our data show that the HIV-neutralization capability of the antibody is equal to or superior to that of the same antibody produced in CHO cells. We conclude that this protein production system may provide a means to achieve microbicide ingredient manufacture at costs that would allow product introduction and manufacture in the developing world

Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010

To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked DownloadNeonatal screening (NBS) was initiated in Europe during the 1960s with the screening for phenylketonuria. The panel of screened disorders ("conditions") then gradually expanded, with a boost in the late 1990s with the introduction of tandem mass spectrometry (MS/MS), making it possible to screen for 40-50 conditions using a single blood spot. The most recent additions to screening programmes (screening for cystic fibrosis, severe combined immunodeficiency and spinal muscular atrophy) were assisted by or realised through the introduction of molecular technologies. For this survey, we collected data from 51 European countries. We report the developments between 2010 and 2020 and highlight the achievements reached with the progress made in this period. We also identify areas where further progress can be made, mainly by exchanging knowledge and learning from experiences in neighbouring countries. Between 2010 and 2020, most NBS programmes in geographical Europe matured considerably, both in terms of methodology (modernised) and with regard to the panel of conditions screened (expanded). These developments indicate that more collaboration in Europe through European organisations is gaining momentum. We can only accomplish the timely detection of newborn infants potentially suffering from one of the many rare diseases and take appropriate action by working together. Keywords: ISNS; International Society for Neonatal Screening; congenital endocrine disorders; congenital metabolic disorders; dried blood spot screening; neonatal screening; newborn screening; public health; rare diseases.Estonian Research Counci