Survey of Italian pediatricians' perspectives and knowledge about neonatal screening

Background: The goal of newborn screening is early identification of babies with a high risk for disorders that may not be clinically evident at birth, but have severe consequences if untreated. New insight into inherited diseases and the ability to test for numerous diseases using new technique such as tandem mass spectrometry have made it practical to greatly expand the number of conditions tested. The expanded neonatal screening is now available and relatively simple, but this represents only a part of the picture. Positive results require follow-up confirmation. Most disorders screened require confirmatory biochemical or genetic tests and specialist visits. An efficient system is needed for managing the care of affected newborns. Expanded newborn screening is not yet available in all Regions of Italy, but discussions aimed at organizing universal access are underway. If these are successful, the role of the pediatrician as the primary contact with the parents is expected to become even more important. Methods: We have conducted a survey of Italian pediatricians to assess their familiarity and opinions on newborn screening in general and on expanded newborn screening. All members of the Italian Association of Pediatricians (n = 9000) were invited to compile a 10-item questionnaire online. Results: The response rate was 10 %, corresponding to 605 of 6000 active members. Respondents were from all Regions of Italy, with the highest number of responses coming from Lombardy (138, 22.8 %), Campania and Puglia (n = 61; 10.1 %). Interestingly, expanded neonatal screening was not available in any of these Regions at the time of the survey. Regarding their understanding of neonatal screening in general, most respondents (n = 552; 91.1 %) considered that they had at least a sufficient level of knowledge; however, only 59.6 % thought they had sufficient knowledge of expanded newborn screening. Conclusions: Successful implementation of a universal expanded NBS program will require efficient procedures for follow-up, diagnosis and treatment to prevent morbidity and mortality of infants and to reduce the period of uncertainty for unaffected families. Pediatricians may need additional training to allow them to fulfill their tasks of coordinating this process while keeping families informed and reassured

Alone and lonely: the economic cost of solitude for regions in Europe

Solitude is a rising phenomenon in the western world. The share of people affected by solitude has been rising for some time and the Covid-19 pandemic has further brought this trend to the fore. Yet, we know next to nothing about the aggregate subnational economic impact of the rise in solitude. In this paper we analyse the consequences of solitude on regional economic performance across Europe, distinguishing between two of its key dimensions: alone living, proxied by the regional share of single-person households and loneliness, proxied by the aggregate share of social interactions. We find that solitude has important implications for economic development, but that these go in different directions. While alone living is a substantial driver of economic growth across European regions, high shares of lonely people undermine it. The connection of loneliness with economic growth is, however, dependent on the frequency of in-person meetings, with large shares of the population meeting others socially on a weekly basis, alongside a small percentage of people who never meet others, yielding the best economic returns

An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient.

We report a male patient with a history of recurrent idiopathic vomiting, normal plasma ammonia and glutamine concentrations in acute phase, who died at 3 years of age. Ornithine transcarbamylase deficiency was diagnosed after detecting elevated urinary orotate concentrations in a sample collected just before death, and the diagnosis was confirmed by DNA analysis

Economic complexity and firm performance in the cultural and creative sector: evidence from Italian provinces

Several studies have detected a positive relationship between the spatial dynamics of cultural and creative industries (CCIs) and their social and economic outcomes. In this article, we draw upon the Economic Complexity Index (ECI) as a proxy to capture the social interactive nature that characterises CCIs and the way this affects firm performance. Our assumption is that more complex locations, endowed with different types of more sophisticated production capabilities, allow CCI firms to perform more strongly. This can depend on the higher opportunities of complex knowledge sharing and cross-fertilisation processes among different types of CCI firms or with non-CCI firms. The focus is on Italy, a country with a long-standing historical tradition in culture and creativity. We draw upon an original panel database at firm and province level (for the period 2010–2016) to compute two different ECIs, one for the CCIs and another one for the rest of the economy. Moreover, we analyse the effects these two types of complexity on the performance of firms within sectors with different levels of cultural and commercial value. We find that economic complexity of CCIs but not economic complexity of the rest of the economy matters for CCI firm performance. However, the effect is relatively weak. The same finding applies to all CCI firms, irrespective of their type of sector. Policy implications and directions for future research are discussed

Quality of analytical performance in inherited metabolic disorders: the role of ERNDIM

Summary: External quality assurance (EQA) schemes are essential for improvement of accuracy, reliability and comparability of results of biochemical genetic tests. ERNDIM (European Research Network for evaluation and improvement of screening, Diagnosis and treatment of Inherited disorders of Metabolism), established in 1994, operates nine EQA schemes for biochemical genetic testing according to international norms and recommendations. These comprise qualitative schemes for amino acids, organic acids, purines and pyrimidines, special assays in serum and urine and white cell cystine, qualitative organic acid and acylcarnitine schemes, as well as diagnostic proficiency testing. The total number of participants has increased from 123 in 1994 to 268 in 2007. Additional activities include participation in the Eurogentest project, a laboratory directory, training, education and development of guidelines. Results from the quantitative amino acid scheme with 170 participants reveal good variation within and between laboratories of below 10% for 10 amino acids; good within-laboratory variation but intermediate inter-laboratory variation of 10-22% for 11 amino acids; and higher variation within and between laboratories for 8 amino acids. Results on samples from 51 inherited metabolic disorders from two of five centres organizing diagnostic proficiency testing indicate overall diagnostic efficiency above 80% and improved performance of individual laboratories. Comparison of results for 10 and 12 compounds in the serum and urine special assay schemes respectively for 2000 and 2007 reveal clear improvement of precision within laboratories and in inter-laboratory variation. There is considerable evidence that performance in biochemical genetic testing has improved since the introduction of ERNDIM scheme

Evaluating Trade-offs in Computer Vision Between Attribute Privacy, Fairness and Utility

This paper investigates to what degree and magnitude tradeoffs exist between utility, fairness and attribute privacy in computer vision. Regarding privacy, we look at this important problem specifically in the context of attribute inference attacks, a less addressed form of privacy. To create a variety of models with different preferences, we use adversarial methods to intervene on attributes relating to fairness and privacy. We see that that certain tradeoffs exist between fairness and utility, privacy and utility, and between privacy and fairness. The results also show that those tradeoffs and interactions are more complex and nonlinear between the three goals than intuition would suggest

Industrial Districts, Inter-firm networks and Internationalisation. Evidence from Italy

This thesis is composed of three chapters developed within international business, industrial districts and network theories. The debate on internationalisation and location of manufacturing activities has been widely analysed in the literature, however I think there is still room for improvement by adapting the general scenario to the specific context of industrial districts or networks as well. Furthermore, firms should be considered not just as single entities isolated form the local context, but regional and local factors could influence their behaviours and their profitability. For these reasons, it is important to take into consideration the surrounding environment where social capital and value creation through innovation might impact firm’s performances (domestically and internationally). The framework of industrial districts and local characteristics is commonly recognised as a key feature of the Italian scenario, where small and medium size firms are closely located and can take the advantages of sectoral specialisation to foster productivity and knowledge spillovers. After revising the literature on these themes, the Thesis aims to deeper investigate the link between the location of manufacturing activities at the national and global scale and its effects over firm’s performances, empirically testing this relation for industrial district firms and networks in Italy