Objective: To perform an updated characterization of the neuroradiologic features of Aicardi-Goutières syndrome (AGS). Methods: The neuroradiologic data of 121 subjects with AGS were collected. The CT and MRI data were analyzed with a systematic approach. Moreover, we evaluated if an association exists between the neuroradiologic findings, clinical features, and genotype. Results: Brain calcifications were present in 110 subjects (90.9%). Severe calcification was associated with TREX1 mutations and early age at onset. Cerebral atrophy was documented in 111 subjects (91.8%). Leukoencephalopathy was present in 120 children (99.2%), with 3 main patterns: frontotemporal, diffuse, and periventricular. White matter rarefaction was found in 54 subjects (50.0%), strongly associated with mutations in TREX1 and an early age at onset. Other novel radiologic features were identified: deep white matter cysts, associated with TREX1 mutations, and delayed myelination, associated with RNASEH2B mutations and early age at onset. Conclusions: We demonstrate that the AGS neuroradiologic phenotype is expanding by adding new patterns and findings to the classic criteria. The heterogeneity of neuroradiologic patterns is partly explained by the timing of the disease onset and reflects the complexity of the pathogenic mechanisms.

While there is an extensive literature on Health System (HS) strengthening and on the performance of specific HSs, there are few exhaustive syntheses of the challenges HSs are facing worldwide. This paper reports the findings of a scoping review aiming to classify the challenges of HSs investigated in the scientific literature. Specifically, it determines the kind of research conducted on HS challenges, where it was performed, in which health sectors and on which populations. It also identifies the types of challenge described the most and how they varied across countries. We searched 8 databases to identify scientific papers published in English, French and Italian between January 2000 and April 2016 that addressed HS needs and challenges. The challenges reported in the articles were classified using van Olmen et al.’s dynamic HS framework. Countries were classified using the Human Development Index (HDI). Our analyses relied on descriptive statistics and qualitative content analysis. 292 articles were included in our scoping review. 33.6% of these articles were empirical studies and 60.1% were specific to countries falling within the very high HDI category, in particular the United States. The most frequently researched sectors were mental health (41%), infectious diseases (12%) and primary care (11%). The most frequently studied target populations included elderly people (23%), people living in remote or poor areas (21%), visible or ethnic minorities (15%), and children and adolescents (15%). The most frequently reported challenges related to human resources (22%), leadership and governance (21%) and health service delivery (24%). While health service delivery challenges were more often examined in countries within the very high HDI category, human resources challenges attracted more attention within the low HDI category. This scoping review provides a quantitative description of the available evidence on HS challenges and a qualitative exploration of the dynamic relationships that HS components entertain. While health services research is increasingly concerned about the way HSs can adopt innovations, little is known about the system-level challenges that innovations should address in the first place. Within this perspective, four key lessons are drawn as well as three knowledge gaps.

Background: While responsible innovation in health (RIH) suggests that health innovations could be purposefully designed to better support health systems, little is known about the system-level challenges that it should address. The goal of this paper is thus to document what is known about health systems’ demand for innovations. Methods: We searched 8 databases to perform a scoping review of the scientific literature on health system challenges published between January 2000 and April 2016. The challenges reported in the articles were classified using the dynamic health system framework. The countries where the studies had been conducted were grouped using the human development index (HDI). Frequency distributions and qualitative content analysis were performed. Results: Up to 1391 challenges were extracted from 254 articles examining health systems in 99 countries. Across countries, the most frequently reported challenges pertained to: service delivery (25%), human resources (23%), and leadership and governance (21%). Our analyses indicate that innovations tend to increase challenges associated to human resources by affecting the nature and scope of their tasks, skills and responsibilities, to exacerbate service delivery issues when they are meant to be used by highly skilled providers and call for accountable governance of their dissemination, use and reimbursement. In countries with a low and medium HDI, problems arising with infrastructure, logistics and equipment were described in connection with challenges affecting procurement, supply and distribution systems. In countries with a medium and high HDI, challenges included a growing demand for drugs and new technology and the management of rising costs. Across all HDI groups, the need for flexible information technologies (IT) solutions to reach rural areas was underscored. Conclusion: Highlighting challenges that are common across countries, this study suggests that RIH should aim to reduce the cost of innovation production processes and attend not only to the requirements of the immediate clinical context of use, but also to the vulnerabilities of the broader system wherein innovations are deployed. Policy-makers should translate system-level demand signals into innovation development opportunities since it is imperative to foster innovations that contribute to the success and sustainability of health systems.

Responsible Innovation in Health (RIH) represents an emerging Science, Technology and Innovation (STI) approach that could support not only the Sustainable Development Goal (SDG) “Good health and well-being” but also other SDGs. Since few studies have conceptualized the relationships between RIH and the SDGs, our goal was to inductively develop a framework to identify knowledge gaps and areas for further reflections. Our exploratory study involved: (1) performing a web-based horizon scanning to identify health innovations with responsibility features; and (2) illustrating through empirical examples how RIH addresses the SDGs. A total of 105 innovations were identified: up to 43% were developed by non-profit organizations, universities or volunteers; 46.7% originated from the United States; and 64.5% targeted countries in Africa, Central and South America and South Asia. These innovations addressed health problems such as newborn care (15.5%), reduced mobility and limb amputation (14.5%), infectious diseases (10.9%), pregnancy and delivery care (9.1%) and proper access to care and drugs (7.3%). Several of these innovations were aligned with SDG10-Reduced inequalities (87%), SDG17-Partnerships for the goals (54%), SDG1-No poverty (15%) and SDG4-Quality education (11%). A smaller number of them addressed sustainable economic development goals such as SDG11-Sustainable cities and communities (9%) and SDG9-Industry and innovation (6%), and environmental sustainability goals such as SDG7-Affordable and clean energy (7%) and SDG6-Clean water and sanitation (5%). Three examples show how RIH combines entrepreneurship and innovation in novel ways to address the determinants of health, thereby contributing to SDG5 (Gender), SDG10 (Inequalities), SDG4 (Education) and SDG8 (Decent work), and indirectly supporting SDG7 (Clean energy) and SDG13 (Climate action). Further research should examine how alternative business models, social enterprises and social finance may support the STI approach behind RIH.

OBJECTIVE To investigate age-period-cohort effects on the temporal trend of type 1 diabetes in children age 0–14 years in Italian registries. RESEARCH DESIGN AND METHODS This report is based on 5,180 incident cases in the period 1990–2003 from the Registry for Type 1 Diabetes Mellitus in Italy (RIDI). Multilevel (random intercept) Poisson regression models were used to model the effects of sex, age, calendar time, and birth cohorts on temporal trends, taking into account the registry-level variance component. RESULTS The incidence rate was 12.26 per 100,000 person-years and significantly higher in boys (13.13 [95% CI 12.66–13.62]) than in girls (11.35 [10.90–11.82]). Large geographical variations in incidence within Italy were evident; incidence was highest in Sardinia, intermediate in Central-Southern Italy, and high in Northern Italy, particularly in the Trento Province, where the incidence rate was 18.67 per 100,000 person-years. An increasing temporal trend was evident (2.94% per year [95% CI 2.22–3.67]). With respect to the calendar period 1990–1992, the incidence rates increased linearly by 15, 27, 35, and 40% in the following time periods (P for trend < 0.001). With respect to the 1987–1993 birth cohort, the incidence rate ratio increased approximately linearly from 0.63 (95% CI 0.54–0.73) in the 1975–1981 cohort to 1.38 (1.06–1.80) in the 1999–2003 cohort. The best model, however, included sex, age, and a linear time trend (drift). CONCLUSIONS Large geographical variations and an increasing temporal trend in diabetes incidence are evident among type 1 diabetic children in Italy. Age-period-cohort analysis shows that the variation over time has a linear component that cannot be ascribed to either the calendar period or the birth cohort.

Sport plays an important role within society and sports stadia provide significant settings for public health strategies. In addition to being places of mass gathering, stadia are often located in less affluent areas and are traditionally attended by ‘harder to reach’ communities. Unfortunately sports stadia and the clubs they host are rarely perceived as places that promote healthy lifestyles. Fast food, alcohol and tobacco are commonly advertized, served and consumed during sports games giving the spectators and TV fans contradictory messages concerning healthy choices. As part of a wider programme of work part-funded by the European Union, a study was therefore designed to explore current ‘good practice’ relating to positive health interventions in sports stadia across a number of European countries. Using a specially designed questionnaire, information about health policies and good practices relating to food offerings in stadia, physical activity promotion among local communities, tobacco policy, positive mental health initiatives, environmental sustainability practices and social responsibility policies were collected in 10 European countries (England and Northern Ireland, Finland, Georgia, Greece, Ireland, Italy, Latvia, Poland, Spain and Sweden) involving 88 stadia. The audit results show that stadia health policies differ considerably between specific countries and sports. Based on the literature analysed, the examples of good practices collected through the study, and the subsequent instigation of a European Healthy Stadia Network, it shows that there is considerable potential for stadia to become health promoting settings.