Distinctive HLA-II association with primary biliary cholangitis on the Island of Sardinia

Background: The HLA DRB1*08 allele associated with primary biliary cholangitis (PBC) among Caucasians is of low frequency in the Sardinian population. Objective: The aim of our study was to type a cohort of PBC patients from the island of Sardinia for HLA class II antigens. Methods: Twenty Sardinian patients affected by PBC, 14 with autoimmune hepatitis (AIH) and 89 healthy controls (HCs) were typed for HLA class II alleles by dot-blot analysis. Results: The PBC-associated HLA DRB1*08 allele was detected in none of the studied individuals. The DRB1*0301–DQB1*0201 was the prevalent HLA haplotype, detected in 19 (47.5%) out of 40 PBC haplotypes (OR = 3.0; 95% CI 1.5–6.2) and in 11 (39.3%) out of 28 AIH haplotypes (OR = 2.2; 95% CI 0.94–5.0), but in only 41 (23%) out of 178 HC haplotypes. Moreover, PBC patients showed an increased frequency of homozygosity for the DQB1*0201 allele (35% compared with 6.7% of the HCs; OR = 7.5; 95% CI 2.2–25.7). The frequency of the DRB1*11 allele in the PBC group was about half of that seen in the Sardinian HCs (7.5% vs 15.7%) (p = ns). Conclusions: Our study confirmed the low frequency of the HLA DRB1*08 allele among Sardinians, either in the general population or PBC patients. The high prevalence of the HLA DRB1*0301–DQB1*0201 haplotype is a distinctive genetic feature of PBC among Sardinians. Our study strengthens the hypothesis that still unknown genetic, epigenetic, and environmental factors must be involved in the pathogenesis of different HLA-associated liver diseases, and it represents a pathfinder that warrants exploration in a future extensive study

Air microbial contamination in dental clinics: comparison between active and passive methods

The aim of this study was to evaluate the correlation between the microbial air contamination values obtained by active sampling (colony-forming units per cubic metre, CFU/m3) and by passive sampling (Index of microbial air contamination, IMA) and to calculate the corresponding equations. Air sampling was performed in ten dental clinics (DC), before (T0), during (T1) and after (T2) the clinical activity, for five consecutive days, once a month for a period of three months, for a total of 450 air samplings. The correlation was evaluated using the Spearman test, and a p value below 0.05 was considered statistically significant. A statistically significant correlation was found considering both the results obtained from the total observations and from the single sampling times, T0, T1 and T2. Different correlation patterns were observed stratifying by DC. Both methods were able to evaluate the microbial air quality and highlight critical situations; therefore, both can be used with this aim. However, in particular during the activity, passive sampling resulted more sensitive, and for its simplicity, economy and standardization by IMA, as suggested by several authors, can be suggested for routine monitoring

Molecular characterization of human G8P[4] rotavirus strains in Italy: Proposal of a more complete subclassification of the G8 genotype in three major lineages

In 2011, two children with acute rotavirus gastroenteritis were hospitalized in Sardinia, Italy. Two RVA strains with G8P[4] genotype were detected in their stools, and were named SS56/2011 and SS65/2011. The aim of the study was to characterize these two rare strains, collected within a national RVA gastroenteritis surveillance program. Eight of the 11 RVA genes were sequenced and phylogenetic analysis performed. VP7 amino acid sequence was also analyzed. Sequencing of genes encoding the VP4, VP6, VP7, and NSP1-5 proteins classified both strains as G8-P[4]-I2-A2-N2-T2-E2-H2, not detected previously in Italy. Phylogenetic analysis revealed that most genes of Italian RVA strains were closely similar to typical DS-1 like strains circulating worldwide, whereas the VP7 gene was strictly related to G8 strains firstly reported in Africa. This finding of G8P[4] RVA strains with a DS-1 like genomic constellation also in a southern European country further confirms the wide circulation of this uncommon genotype in the world. Comparison of the deduced amino acid sequence of the VP7 capsid protein of the Italian G8P[4] RVA strains with sequences reported previously suggests that the G8 genotype should be divided into three major lineages

Health Hazard Scenarios in Italy after the COVID19 Outbreak: A Methodological Proposal

The health emergency (COVID-19) in Italy had a great impact mainly in the Northern part. The geographical and environmental similarities observed between this area and the Wuhan area in the Province of Hubei (China), led to the basic hypothesis of this paper, namely how the presence of atmospheric pollutants can generate stress on the health conditions of the population and thus determine the pre-conditions for the development of diseases of the respiratory system. The aim of the paper is to produce three different hazard scenarios in Italy using the AHP method (Spatial Analytical Hierarchy Process) and thirteen information levels grouped into classes respectively related to environmental, climatic and land management factors

6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies

Abstract Background The interstitial 6p deletions, involving the 6p22-p24 chromosomal region, are rare events characterized by variable phenotypes and no clear genotype-phenotype correlation has been established so far. Results High resolution array-CGH identified 1 Mb de novo interstitial deletion in 6p22.3 chromosomal region in a patient affected by severe Intellectual Disability (ID), Autism Spectrum Disorders (ASDs), and electroencephalographic anomalies. This deletion includes ATXN1, DTNBP1, JARID2 and MYLIP genes, known to play an important role in the brain, and the GMPR gene whose function in the nervous system is unknown. Conclusions We support the suggestion that ATXN1, DTNBP1, JARID2 and MYLIP are candidate genes for the pathophysiology of ASDs and ID, and we propose that deletion of DTNBP1 and/or JARID2 contributes to the hypotonia phenotype.</p

A methodological proposal to evaluate the health hazard scenario from COVID-19 in Italy

2019 Coronavirus disease (COVID-19) had a big impact in Italy, mainly concentrated in the northern part of the Country. All this was mainly due to similarities of this area with Wuhan in Hubei Province, according to geographical, environmental and socio-economic points of view. The basic hypothesis of this research was that the presence of atmospheric pollutants can generate stress on health conditions of the population and determine pre-conditions for the development of diseases of the respiratory system and complications related to them. In most cases the attention on environmental aspects is mainly concentrated on pollution, neglecting issues such as land management which, in some way, can contribute to reducing the impact of pollution. The reduction of land take and the decrease in the loss of ecosystem services can represent an important aspect in improving environmental quality. In order to integrate policies for environmental change and human health, the main factors analyzed in this paper can be summarized in environmental, climatic and land management. The main aim of this paper was to produce three different hazard scenarios respectively related to environmental, climatic and land management-related factors. A Spatial Analytical Hierarchy Process (AHP) method has been applied over thirteen informative layers grouped in aggregation classes of environmental, climatic and land management. The results of the health hazard maps show a disparity in the distribution of territorial responses to the pandemic in Italy. The environmental components play an extremely relevant role in the definition of the red zones of hazard, with a consequent urgent need to renew sustainable development strategies The comparison of hazard maps related to different scenarios provides decision makers with tools to orient policy choices with a different degree of priority according to a place-based approach. In particular, the geo-spatial representation of risks could be a tool for legitimizing the measures chosen by decision-makers, proposing a renewed approach that highlights and takes account of the differences between the spatial contexts to be considered - Regions, Provinces, Municipalities - also in terms of climatic and environmental variables

Governare la salute nella città post-pandemica. Una proposta metodologica

The basic hypothesis of this research work is that the heterogeneous distribution of the pandemic effects from Covid-19 is to be attributed to the existence of a set of combined factors of a geographical, environmental and socio-economic nature that have affected the response capacity of the community. In particular, the high concentrations of atmospheric pollutants, favored by climatic and geographical characteristics, can directly affect the health of the population and determine preconditions for the development of respiratory system diseases and related complications. In most cases, the attention on environmental aspects focuses on pollution and emission components, neglecting the issues related to territorial planning and the management of the relationship between anthropogenic and environmental components that can instead contribute to high levels of well-being in the long term. In this sense, the reduction of soil consumption and the protection of ecosystem services can favor the improvement of environmental quality and also contribute to the reduction of the pre-conditions that determine high dangerousness values. In order to provide analyzes useful for pursuing greater integration between policies for environmental change and ecological transition, and those strictly connected to human health and the well-being of citizens, a total of thirteen information levels representing three classes of connected factors were considered. the environmental, climatic and land management structure. On the basis of these, three hazard scenarios were represented resulting from spatial multi-criteria analysis processes (Mca) based on the Spatial Analytical Hierarchy Process (Ahp) method. The comparison between the scenario maps shows a heterogeneous spatial distribution of the effects of the pandemic and also highlights the resilience deriving from the environmental components. By virtue of this, the urgent need is confirmed to renew and integrate sustainable development strategies capable of facilitating better responsiveness to environmental, climatic and health shocks in order to ensure adequate levels of well-being within the settlement systems

Housing Demand in Urban Areas and Sanitary Requirements of Dwellings in Italy

The phenomenon of urbanisation is becoming increasingly prevalent on a global level, and the health issues regarding the urban environment are of primary importance in public health. Accordingly, the present manuscript describes an analysis of the housing conditions of Italian urban areas, referring to the city of Sassari (Sardinia), Italy, focused on the dwelling structural and sanitary conditions issued by the Italian regulations. Data relating to the housing conditions of the population were acquired by the Local Hygiene and Public Health Service (SISP), in a period between 2012 and 2016. Qualitative variables were summarised with absolute and relative (percentages) frequencies, whereas quantitative variables with means and standard deviations depending on their parametric distribution. Statistical comparisons for qualitative and quantitative variables were performed with the χ2 test or Student’s t-test, respectively. A p value less than 0.05 was considered statistically significant. Finally, the dwellings and the collected variables were georeferenced on a city map. During the 2012–2016 observation period, 363 certification requests were received from 193 (53.2%) foreign-born citizens and 170 (46.8%) Italians at the SISP offices. The main reasons relate to the request for a residency permit (46.6%) and to obtain a subsidy from the local government (32.8%). Overall, 15.4% of dwellings were found to be improper, while 35.3% and 22.0% were found to be unhygienic and uninhabitable, respectively. The foreigners’ homes were found to be suitable in 82.7% of cases; the housing of Italian citizens, on the contrary, was found to be suitable in 28% of the observations. The present study offers a cross section of the housing conditions of Italian urban areas, referring to the city of Sassari. To the authors’ best knowledge, this observation is the first one carried out in Sardinia and one of the first observations in Italy. It has emerged that “hygienically unsuitable” homes are those that, in most cases, are located in the city centre. Moreover, the Italian population is hit by a significant housing problem, due to overcrowding, uninhabitability, and unhygienic conditions. Overall, our findings suggest that it is necessary to develop a multidisciplinary approach to guarantee public health, with safe dwellings homes and the surrounding urban context alongside the development of social relations. Nevertheless, there is still little evidence available today on the population housing conditions, especially regarding the private indoor environment, and further research is needed to bridge this knowledge gap