Active TB screening among homeless people attending soup kitchens in Verona (Italy)

BACKGROUND: The hard-to-reach populations, including the homeless, are particularly vulnerable to the development of active tuberculosis. According to the World Health Organization, tuberculosis rates among the homeless in industrialized Countries are up to 20 times higher if compared with the general population, representing a relevant public health problem. The aim of our study was to describe the results of an active tuberculosis screening applied in order to find out suspected active TB cases among the homeless in Verona.METHODS: As part of a partnership between the non-profit association Medici per la Pace and one of the Local Health Units of Veneto Region (ULSS 9 Scaligera) in 2018, a tuberculosis screening, based on thoracic radiographs, was offered to the homeless guests of two Verona's soup kitchens.RESULT: The studied population included 139 people, and three cases of suspected active tuberculosis, all in males, were observed. Among these, two received a diagnostic confirmation of active tuberculosis (a prevalence of 1.44% - CI: 0,17 - 5,1). Moreover, radiographic patterns of tuberculosis aftermaths were found in six additional subjects.CONCLUSION: Interventions specifically dedicated to hard-to-reach populations, can be useful in identifying tuberculosis active cases and controlling the disease in low tuberculosis burden countries. In particular, the active research of subjects, the screening carried out with mobile X-ray, and also the constant caring of the patients with active disease, could be the right method to keep under control this relevant public health problem

Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype–phenotype discordance

Biallelic mutations in the BRAT1 gene, encoding BRCA1-associated ATM activator 1, result in variable phenotypes, from rigidity and multifocal seizure syndrome, lethal neonatal to neurodevelopmental disorder, and cerebellar atrophy with or without seizures, without obvious genotype-phenotype associations. We describe two families at the mildest end of the spectrum, differing in clinical presentation despite a common genotype at the BRAT1 locus. Two siblings displayed nonprogressive congenital ataxia and shrunken cerebellum on magnetic resonance imaging. A third unrelated patient showed normal neurodevelopment, adolescence-onset seizures, and ataxia, shrunken cerebellum, and ultrastructural abnormalities on skin biopsy, representing the mildest form of NEDCAS hitherto described. Exome sequencing identified the c.638dup and the novel c.1395G>A BRAT1 variants, the latter causing exon 10 skippings. The p53-MCL test revealed normal ATM kinase activity. Our findings broaden the allelic and clinical spectrum of BRAT1-related disease, which should be suspected in presence of nonprogressive cerebellar signs, even without a neurodevelopmental disorder

Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2

Basal ganglia are subcortical grey nuclei that play essential roles in controlling voluntary movements, cognition and emotion. While basal ganglia dysfunction is observed in many neurodegenerative or metabolic disorders, congenital malformations are rare. In particular, dysplastic basal ganglia are part of the malformative spectrum of tubulinopathies and X-linked lissencephaly with abnormal genitalia, but neurodevelopmental syndromes characterized by basal ganglia agenesis are not known to date. We ascertained two unrelated children (both female) presenting with spastic tetraparesis, severe generalized dystonia and intellectual impairment, sharing a unique brain malformation characterized by agenesis of putamina and globi pallidi, dysgenesis of the caudate nuclei, olfactory bulbs hypoplasia, and anomaly of the diencephalic-mesencephalic junction with abnormal corticospinal tract course. Whole-exome sequencing identified two novel homozygous variants, c.26C>A; p.(S9*) and c.752A>G; p.(Q251R) in the GSX2 gene, a member of the family of homeobox transcription factors, which are key regulators of embryonic development. GSX2 is highly expressed in neural progenitors of the lateral and median ganglionic eminences, two protrusions of the ventral telencephalon from which the basal ganglia and olfactory tubercles originate, where it promotes neurogenesis while negatively regulating oligodendrogenesis. The truncating variant resulted in complete loss of protein expression, while the missense variant affected a highly conserved residue of the homeobox domain, was consistently predicted as pathogenic by bioinformatic tools, resulted in reduced protein expression and caused impaired structural stability of the homeobox domain and weaker interaction with DNA according to molecular dynamic simulations. Moreover, the nuclear localization of the mutant protein in transfected cells was significantly reduced compared to the wild-type protein. Expression studies on both patients' fibroblasts demonstrated reduced expression of GSX2 itself, likely due to altered transcriptional self-regulation, as well as significant expression changes of related genes such as ASCL1 and PAX6. Whole transcriptome analysis revealed a global deregulation in genes implicated in apoptosis and immunity, two broad pathways known to be involved in brain development. This is the first report of the clinical phenotype and molecular basis associated to basal ganglia agenesis in humans

Sustainable development goals and 2030 agenda: Awareness, knowledge and attitudes in nine Italian universities, 2019

Sustainable Development Goals (SDGs) and 2030 Agenda represent global development programs. Education can widen the acknowledgement of their relevance and their applications. This survey aims to assess awareness, knowledge and attitudes towards SDGs and sustainability among first-year students in nine Italian Universities. A Likert scale-based online questionnaire of 70 items was compiled by students from March to July 2019. It examined knowledge and expectations referred to sustainable development concepts, indicators and documents/models accounting for sociodemographic variables. Statistical analyses performed were Chi-square test, Fisher\u2019s Exact test, Kendall\u2019s W correlation coefficient, univariate and multivariate analysis. The questionnaire was completed by 1676 students. A low percentage referred a good knowledge of SDGs and 2030 Agenda, most of them had never attended related educational activities previously. Better knowledge of SDGs and 2030 Agenda was observed in case of previous specific educational activities (p < 0.001). The expectation towards university guaranteeing an education on SDGs was high, both for personal wisdom and for usefulness in future professional context. A significant difference (p < 0.001) in such expectations was found, as healthcare students were less interested than colleagues of other areas. The results showed low knowledge but interest towards sustainable development. A scheduled implementation of academic initiatives should be considered

A study on the relationship between mass concentrations, chemistry and number size distribution of urban fine aerosols in Milan, Barcelona and London

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What about your body ornament? Experiences of tattoo and piercing among italian youths

Background: tattooing and piercing are increasingly common, especially among youths. However, several health complications may be associated with these practices if basic hygiene rules are not respected. This multicenter study was aimed at exploring tattoo and piercing experiences reported by a large sample of Italian undergraduate students through a public health perspective. Methods: tattooed and/or pierced students attending 12 Italian universities were asked to complete a web-based questionnaire regarding their body art experience. Results: out of 1472 respondents, 833 (56.6%) were tattooed and 1009 (68.5%) were pierced. The greatest proportion of tattooed students (93.9%) got her/his first tattoo in a tattoo studio, while most of the pierced were serviced in a jewelry store (48.0%). The pierced ones were less informed on health issues related to the procedure (56.0% versus 77.8% of tattooed p &lt; 0.001), and tattooists were reportedly more attentive to hygiene rules (instrument sterilization 91.5% versus 79.1% of piercers, p &lt; 0.001; use of disposable gloves 98.2% versus 71% of piercers, p &lt; 0.001). Conclusions: educational interventions for both professionals and communities are needed to improve the awareness and the control of health risks related to body art throughout the Italian territory

What about your body ornament? Experiences of tattoo and piercing among italian youths

Background: tattooing and piercing are increasingly common, especially among youths. However, several health complications may be associated with these practices if basic hygiene rules are not respected. This multicenter study was aimed at exploring tattoo and piercing experiences reported by a large sample of Italian undergraduate students through a public health perspective. Methods: tattooed and/or pierced students attending 12 Italian universities were asked to complete a web-based questionnaire regarding their body art experience. Results: out of 1472 respondents, 833 (56.6%) were tattooed and 1009 (68.5%) were pierced. The greatest proportion of tattooed students (93.9%) got her/his first tattoo in a tattoo studio, while most of the pierced were serviced in a jewelry store (48.0%). The pierced ones were less informed on health issues related to the procedure (56.0% versus 77.8% of tattooed p &lt; 0.001), and tattooists were reportedly more attentive to hygiene rules (instrument sterilization 91.5% versus 79.1% of piercers, p &lt; 0.001; use of disposable gloves 98.2% versus 71% of piercers, p &lt; 0.001). Conclusions: educational interventions for both professionals and communities are needed to improve the awareness and the control of health risks related to body art throughout the Italian territory

Work-related injuries in young workers: an Italian multicentric epidemiological survey.

Emergency departments records from 33 hospitals were reviewed to disclose work-related injuries occurred in teen-subjects living in 14 Italian cities. During January-June 2000, 317 work-related injuries were reported. Male subjects, 17 year old, working in the industrial field, resulted the most affected,probably due to the fact that among young workers this sex and age class is the most represented one. Cluster analysis identified two groups of work-related injuries: one includes mainly transportation injuries causing lower extremities or multiple body sites traumas. The other is more strictly related to specific working tasks and includes mostly traumas and cut wounds in hand/wrist and head, together with eye lesions. A more intensive supervision on the use of protective equipment, a more appropriate training in hazard recognition and safe work practices, including operation of vehicles in the work site, must be implemented to reduce work-related injuries