Nuoro Province Research Articles

Multiple Sclerosis Heritability Estimation on Sardinian Ascertained Extended Families Using Bayesian Liability Threshold Model.

Heritability studies represent an important tool to investigate the main sources of variability for complex diseases, whose etiology involves both genetics and environmental factors. In this paper, we aimed to estimate multiple sclerosis (MS) narrow-sense heritability (h2), on a liability scale, using extended families ascertained from affected probands sampled in the Sardinian province of Nuoro, Italy. We also investigated the sources of MS liability variability among shared environment effects, sex, and categorized year of birth (<1946, ≥1946). The latter can be considered a proxy for different early environmental exposures. To this aim, we implemented a Bayesian liability threshold model to obtain posterior distributions for the parameters of interest adjusting for ascertainment bias. Our analysis highlighted categorized year of birth as the main explanatory factor, explaining ~70% of MS liability variability (median value = 0.69, 95% CI: 0.64, 0.73), while h2 resulted near to 0% (median value = 0.03, 95% CI: 0.00, 0.09). By performing a year of birth-stratified analysis, we found a high h2 only in individuals born on/after 1946 (median value = 0.82, 95% CI: 0.68, 0.93), meaning that the genetic variability acquired a high explanatory role only when focusing on this subpopulation. Overall, the results obtained highlighted early environmental exposures, in the Sardinian population, as a meaningful factor involved in MS to be further investigated.

Molecular Characterization of Severe Acute Respiratory Syndrome Coronavirus 2 Isolates From Central Inner Sardinia.

BackgroundThe SARS-CoV-2 pandemic stimulated an outstanding global sequencing effort, which allowed to monitor viral circulation and evolution. Nuoro province (Sardinia, Italy), characterized by a relatively isolated geographical location and a low population density, was severely hit and displayed a high incidence of infection.MethodsAmplicon approach Next Generation Sequencing and subsequent variant calling in 92 respiratory samples from SARS-CoV-2 infected patients involved in infection clusters from March 2020 to May 2021.ResultsPhylogenetic analysis displayed a coherent distribution of sequences in terms of lineage and temporal evolution of pandemic. Circulating lineage/clade characterization highlighted a growing diversity over time, with an increasingly growing number of mutations and variability of spike and nucleocapsid proteins, while viral RdRp appeared to be more conserved. A total of 384 different mutations were detected, of which 196 were missense and 147 synonymous ones. Mapping mutations along the viral genome showed an irregular distribution in key genes. S gene was the most mutated gene with missense and synonymous variants frequencies of 58.8 and 23.5%, respectively. Mutation rates were similar for the S and N genes with one mutation every ∼788 nucleotides and every ∼712 nucleotides, respectively. Nsp12 gene appeared to be more conserved, with one mutation every ∼1,270 nucleotides. The frequency of variant Y144F in the spike protein deviated from global values with higher prevalence of this mutation in the island.ConclusionThe analysis of the 92 viral genome highlighted evolution over time and identified which mutations are more widespread than others. The high number of sequences also permits the identification of subclusters that are characterized by subtle differences, not only in terms of lineage, which may be used to reconstruct transmission clusters. The disclosure of viral genetic diversity and timely identification of new variants is a useful tool to guide public health intervention measures.

Investigating multiple sclerosis genetic susceptibility on the founder population of east-central Sardinia via association and linkage analysis of immune-related loci

Background: A wealth of single-nucleotide polymorphisms (SNPs) responsible for multiple sclerosis (MS) susceptibility have been identified; however, they explain only a fraction of MS heritability. Objectives: We contributed to discovery of new MS susceptibility SNPs by studying a founder population with high MS prevalence. Methods: We analyzed ImmunoChip data from 15 multiplex families and 94 unrelated controls from the Nuoro Province, Sardinia, Italy. We tested each SNP for both association and linkage with MS, the linkage being explored in terms of identity-by-descent (IBD) sharing excess and using gene dropping to compute a corresponding empirical p-value. By targeting regions that are both associated and in linkage with MS, we increase chances of identifying interesting genomic regions. Results: We identified 486 MS-associated (p < 1 × 10–4) and 18,426 MS-linked (p < 0.05) SNPs. A total of 111 loci were both linked and associated with MS, 18 of them pointing to 14 non-major histocompatibility complex (MHC) genes, and 93 of them located in the MHC region. Conclusion: We discovered new suggestive signals and confirmed some previously identified ones. We believe this to represent a significant step toward an understanding of the genetic basis of MS.

Linguistic and Cognitive Skills in Sardinian–Italian Bilingual Children

We report the results of a study which tested receptive Italian grammatical competence and general cognitive abilities in bilingual Italian–Sardinian children and age-matched monolingual Italian children attending the first and second year of primary school in the Nuoro province of Sardinia, where Sardinian is still widely spoken. The results show that across age groups the performance of Sardinian–Italian bilingual children is in most cases indistinguishable from that of monolingual Italian children, in terms of both Italian language skills and general cognitive abilities. However, where there are differences, these emerge gradually over time and are mostly in favor of bilingual children.

Demographic characteristics of Sardinian centenarian genealogies: Preliminary results of the AKeA2 study

AbstractOBJECTIVEThis article provides an overview of the AKeA2 study, with a particular focus on data collection concerning family genealogies of the Sardinian centenarians and controls, and on the quality of these data. A first analysis of the main characteristics of the survey data is also summarized and selected preliminary results are presented.METHODSWe use descriptive statistics to analyze data collected by the AKeA2 survey on Sardinian centenarians and controls.RESULTSCentenarian women have on average fewer children, and at an older age, particularly for their last child. The mothers of centenarians, especially centenarian women, lived longer on average than those of deceased controls and controls born between 1905 and 1910 but still living at the moment of the survey.1. IntroductionIn Sardinia, male death rates after age 80 are only modestly higher than female death rates, and are lower than female levels in some municipalities. The remarkably low mortality after age 80 has thus yielded a surprisingly large number of centenarian men compared with centenarian women (Robine and Caselli 2005). An area with a large number of centenarians has been identified in the Sardinian province of Nuoro (Deiana et al. 1999; Poulain et al. 2004), as well as a longevity area for men. This latter area comprises municipalities in Oristano as well as Nuoro where the standardized death rate across old ages for men is less than 10% higher than for women, whereas elsewhere in the two provinces the standardized male death rate is more than 30% higher (Caselli and Lipsi 2006). The higher number of centenarians and their more balanced sex ratio have led to considerable interest among demographers, geneticists, gerontologists, and clinicians specializing in genetic mapping (DNA) (Caselli, Robine, and Rasulo 2003).The bio-medical characteristics of Sardinian centenarians was investigated by Luca Deiana and Giovannella Baggio (Deiana et al. 1999) in the AKeA study, an acronym derived from an expression in the Sardinian dialect that means may you live to 100. A second, larger and cross-disciplinary study, called AKeA2, was launched in 2003, which involved demographers, historians, biologists, geneticists, and gerontologists. The demographic survey was directed by James Vaupel.This article gives a short description of the AKeA2 demographic survey and of the data collection, and provides a preliminary analysis of the data.2. Overview of the AKeA2 study: Sample selection and data collection planThe data collection was time-consuming. Over a six-year period various types of information were gathered: individual demographic characteristics, data on survival rates, and archival data regarding family characteristics and early-life events.The AKeA2 demographic survey was planned to involve Sardinian centenarians (100 men and 100 women) and their controls, by differentiating between living and deceased controls. All the controls were of the same sex as the centenarian, born and still resident in the same place of birth, and their day and month of birth were as close as possible to that of the centenarian. Picking the person with the most similar day and month of birth is a convenient method of selecting a matched individual, and this strategy controls for season-of-birth effects, which are known to affect longevity (Doblhammer 1999; Doblhammer and Vaupel 2001; Gavrilov and Gavrilova 1999).As concerns the living controls, the plan was to identify three younger controls for each centenarian by finding people born around 1907, 1912, and 1922. We also identified, for each centenarian, two deceased controls that were born, as mentioned before, the same year (and around the same day and month) and in the same municipality as the centenarian and to find one who died in his or her late 60s and one who died in his or her late 70s.In choosing both controls it was required that the family names of their mothers and fathers had to be different from the family names of the centenarian's parents. …

A new cave-dwelling Centromerus from Sardinia (Araneae: Linyphiidae)

&lt;em&gt;Centromerus marciai&lt;/em&gt; sp. n. is described on both sexes on specimens collected in a karstic cave in the province of Nuoro, North-eastern Sardinia, Italy. Differences with other species of the genus &lt;em&gt;Centromerus&lt;/em&gt; Dahl, 1886 occurring in Sardinia are pointed out.

Microbiological assessment of raw goat milk collected from Sardinian herds

With Regulation EC 853/04, the European Parliament and the Council laid down general rules for food business operators regarding the hygiene of foodstuffs. In particular, the regulation established ≤1.500.000 cfu/mL as the maximum-tolerated value for total bacterial count in raw goat milk. Moreover, in order to enhance the hygiene of dairy farms, the Sardinia Region has funded the F measure programme which provides rewards for farmers showing improvements in herd management and animal welfare practices. This work aimed to evaluate the microbiological quality of raw goat milk samples collected during the F measure enforcement. A total of 536 raw goat samples, collected from dairy farms in the Sardinian province of Nuoro and Ogliastra, were analised for total bacterial count at 30°C. Results showed that total bacterial count was ≤1.500.000 ufc/mL in 456 (85.1%) raw milk goat samples, most of them (80.2%) with a total bacterial contamination <500.000 cfu/mL. This study confirms the hygienic good quality of raw goat milk collected from Sardinian dairy farms.

What is your diagnosis? Cerebrospinal fluid from a sheep.

In May 2011, 2 Sarda breed sheep (ID569 and ID622) from a livestock facility in the province of Nuoro (Sardinia, Italy) affected with chronic coenurosis were presented to the Veterinary Clinical Laboratory of the University of Sassari. The animals were included in a study conducted to investigate potential alterations of the brain and skull in 24 sheep with chronic coenurosis by magnetic resonance imaging (MRI). The MRI detected the presence of one cyst in the medial cerebral hemisphere of sheep ID569, and 2 cysts in the left cerebral hemisphere of sheep ID622. Definitive diagnosis of chronic coenurosis was made by macroscopic and morphologic identification of T multiceps cyst after surgical extraction. Both animals manifested depression, disorientation, and alterations of postural reactions. Sheep ID569 revealed bilateral menace deficit while sheep ID622 showed a unilateral menace deficit. Complete resolution of neurologic signs was observed in both sheep within 7 days after removal of cysts.

Il progetto SISTEMATI – The SISTEMATI project

The SISTEMATI project is developing a distributed information and communication system aimed at distributing and sharing information among people in charge of preparedness and response activities in the field of Spatial Planning and Civil Protection. To this end, the project provides authorities and volunteers with a Spatial Data Infrastructure (SDI) supporting different tools and facilities targeted to: retrieve natural hazard risk maps on the basis of geo-information included in metadata files; it makes use of a Spatial Decision Support System to suggest and control the flow of actions to put in practice during an emergency; and manages Volunteered Geographic Information (VGI) provided by citizens to point out anomalous conditions of the territory. Although, the SDI has been originally conceived and designed to support the management of distinct natural and man-made risks, in the prototypal implementation of the proposal, the management of wild fire risk in a study area approximately covering 3.900 km2 in the central-eastern part of the Sardinia Island (Nuoro province) is the primary issue.

A model for the sustainable energy use of forest biomass resources in Sardinia

This study analyses the extent and spatial distribution of the forest resources and their energy potential in the province of Nuoro (Sardinia, Italy). The aim is to create a data base which will help decision makers to make a plan for the sustainable use of the resources of the territory. A GIS-based model was used to assess the energy capacity and suitability of the area. This model used four basic information layers: (1) slope, (2) hydro-geological constraints, (3) protected areas, (4) forest districts under regional forest management. These four criteria are of great importance when attempting to assess the quantity of available sustainable biomass. Based on their potential energy production, 140 basins were identified, which could provide enough forest biomass to fuel all the heating systems currently installed in public buildings of the Provincial administration.

976 – Shortned visuo-spatial questionnaire: an useful tool for the early identification of children with non verbal syndrome living in rural areas

Visuo-spatial deficits interfere with learning geography, geometry, natural sciences, drawing, arithmetic calculation and can also play a crucial role in the acquisition of reading and writing abilities. In order to identify early students with low non verbal abilities, Cornoldi, Venneri, Marconato, Molin & Montinari (2003) have proposed a questionnaire for teachers, the so called Shortened Visuo-Spatial Questionnaire (SVS). However, this tool has been validated in urban contexts mainly located in North-East Italy. Present research was aimed to investigate whether the SVS can identify children with low visuo-spatial abilities living in Sardinian rural areas. Experiment 1 was aimed to verify the reliability of the assessments of visuo-spatial abilities of 8-11 years aged children attending two primary schools in the province of Nuoro done by the teachers that used the SVS questionnaire. Results show that the questionnaire by Cornoldi et al. (2003) is a reliable tool for the early identification of children with scarce visuo-spatial abilities living in agropastoral cultural contexts. Finally, Experiment 2 was aimed to investigate which variables predict SVS scores. Results show that children chronological age and teachers previous educational experience predict the accuracy level of students visuo-spatial functions which were assessed by the teachers using the SVS questionnaire. In conclusion the SVS is an useful tool for the early identification of children with Non Verbal Syndrome, a disability that can cause low self-esteem and depression in children and adolescent with visuo-spatial learning problems

What is your diagnosis? Cerebrospinal fluid from a dog

In May 2011, 2 Sarda breed sheep (ID569 and ID622) from a livestock facility in the province of Nuoro (Sardinia, Italy) affected with chronic coenurosis were presented to the Veterinary Clinical Laboratory of the University of Sassari. The animals were included in a study conducted to investigate potential alterations of the brain and skull in 24 sheep with chronic coenurosis by magnetic resonance imaging (MRI). The MRI detected the presence of one cyst in the medial cerebral hemisphere of sheep ID569, and 2 cysts in the left cerebral hemisphere of sheep ID622. Definitive diagnosis of chronic coenurosis was made by macroscopic and morphologic identification of T multiceps cyst after surgical extraction. Both animals manifested depression, disorientation, and alterations of postural reactions. Sheep ID569 revealed bilateral menace deficit while sheep ID622 showed a unilateral menace deficit. Complete resolution of neurologic signs was observed in both sheep within 7 days after removal of cysts.

Two new Typhloreicheia species from Sardinia and their biogeographical significance (Coleoptera, Carabidae, Scaritinae)

Typhloreicheia monacha sp. n. and Typhloreicheia ilianae sp. n. are described from two caves of Central-Eastern Sardinia (Nuoro province): the Bue Marino cave and the Nurra ‘e Pradu cave, respectively. Both caves are located in the part of the island where many highly specialised subterranean carabid beetles are localised. Typhloreicheia monacha is apparently related to two other species of the same area, i.e. Typhloreicheia onnisi Casale & Magrini, 2004 and Typhloreicheia elegans (Dodero, 1916); Typhloreicheia ilianae is closely related to Typhloreicheia henroti Jeannel, 1957, known from a cave near Dorgali. Relationships and diagnostic features among these taxa are discussed and illustrated, and a key for identification of the specialised subterranean Typhloreicheia species of Sardinia is provided. The hypothesis of adaptive radiation of Reicheiina species in Sardinia, recently proposed by the senior author of this contribution, is further elaborated in light of new data.

Assessment of reference ranges for blood Cu, Mn, Se and Zn in a selected Italian population

The reference ranges for blood Cu, Mn, Se and Zn of 215 adult subjects non-occupationally exposed and living in the Nuoro province (Sardinia, insular Italy) were assessed. Metals were determined by sector field inductively coupled plasma mass spectrometry after microwave-assisted acid digestion of blood. The blood reference ranges estimated as P5–P95 percentiles (geometric mean, GM) were 776–1495 μg/L (1036 μg/L) for Cu; 4.73–17.0 μg/L (8.91 μg/L) for Mn; 106–185 μg/L (140 μg/L) for Se and 4686–8585 μg/L (6418 μg/L) for Zn. These results were then stratified for sex, age, alcohol consumption, smoking habit and living area. The GM value of Cu was significantly higher in females (1127 μg/L) than in males (957 μg/L). Age, alcohol intake, smoking habit and residential area did not influence blood Cu. The GM of Mn was significantly higher in females (9.98 μg/L) respect to males (8.01 μg/L) and in drinkers (9.67 μg/L) compared to non-drinkers (8.38 μg/L). The other variables did not change the Mn data. Selenium concentrations did not differ significantly as a function of individuals factors. With reference to Zn, males had GM of 6804 μg/L and females of 6031 μg/L, and more blood Zn was found in subjects consuming alcohol (6618 μg/L) respect to abstainers (6155 μg/L). In addition, blood Zn was not affected by age, smoking habit and place of living.

Shrub facilitation of Quercus ilex and Quercus pubescens regeneration in a wooded pasture in central Sardinia (Italy)

Abstract: In the woodlands of Sardinia, as in many other areas of the Mediterranean region, grazing of domestic animals is still very common, though often in the absence of any sustainable management logic or technique. The present work analyzes the effects of excessive grazing pressure on a wooded pasture in the municipality of Orgosolo (Nuoro province), emphasizing the effects on the natural regeneration of the oak species (Quercus ilex and Quercus pubescens). This study has revealed the positive effects of the interaction between shrubs and seedlings of tree species. Crataegus monogyna proved to be the most efficient shrub species in favouring the establishment and growth of saplings; Rubus ulmifolius is efficient in the establishing phase but somewhat less so in the following stages. The other shrub species (Prunus spinosa, Genista pichi-sermolliana, Stachys glutinosa) play a lesser facilitating role. Despite the fact that seedlings are found in more than half (56%) of the shrub patches, the average age of the seedlings (14±0.6 yrs) and their small average size (height 24±1.4cm) lead to think that the present grazing pressure is incompatible with any concrete chance of success for their natural regeneration.

Association between Protective and Deleterious HLA Alleles with Multiple Sclerosis in Central East Sardinia

The human leukocyte antigen (HLA) complex on chromosome 6p21 has been unambiguously associated with multiple sclerosis (MS). The complex features of the HLA region, especially its high genic content, extreme polymorphism, and extensive linkage disequilibrium, has prevented to resolve the nature of HLA association in MS. We performed a family based association study on the isolated population of the Nuoro province (Sardinia) to clarify the role of HLA genes in MS. The main stage of our study involved an analysis of the ancestral haplotypes A2Cw7B58DR2DQ1 and A30Cw5B18DR3DQ2. On the basis of a multiplicative model, the effect of the first haplotype is protective with an odds ratio (OR) = 0.27 (95% confidence interval CI 0.13–0.57), while that of the second is deleterious, OR 1.78 (95% CI 1.26–2.50). We found both class I (A, Cw, B) and class II (DR, DQ) loci to have an effect on MS susceptibility, but we saw that they act independently from each other. We also performed an exploratory analysis on a set of 796 SNPs in the same HLA region. Our study supports the claim that Class I and Class II loci act independently on MS susceptibility and this has a biological explanation. Also, the analysis of SNPs suggests that there are other HLA genes involved in MS, but replication is needed. This opens up new perspective on the study of MS.

The birth of a Trichinella britovi focus on the Mediterranean island of Sardinia (Italy)

For 60 years, the islands of the Mediterranean basin were considered to be Trichinella-free. In April 2005, an outbreak of human trichinellosis due to the consumption of infected pork involved 11 persons in the villages of Orgosolo and Lanusei (Nuoro province) on the island of Sardinia (Italy). We conducted an investigation to identify free-range and backyard pigs and other humans with Trichinella infection in the area of the 2005 outbreak. We also tested wild animals from various parts of Sardinia. In December 2005, eight persons were found to have been infected, and in May 2007 there was a single case of infection. The sources of all infections were domestic pigs. Artificial digestion of muscle samples from 681 pigs (325 free-range and 356 backyard pigs) revealed Trichinella sp. larvae in four sows (1.2%). All larvae, including those from the consumed pork products, were identified as Trichinella britovi. All infected pigs originated from the Orgosolo municipality. None of the 6188 wild boars (Sus scrofa) or 13 red foxes (Vulpes vulpes) examined were positive for Trichinella sp., suggesting that this parasite is restricted to free-range pigs. The origin of infected animals on Sardinia remains to be determined, although it could be related to the presence of T. britovi-infected animals on the island of Corsica (France).

Family clustering in Sardinian longevity: A genealogical approach

This paper aims to discuss the validation and family determinants affecting the longevity of Sardinian centenarians, using a genealogical approach. This preliminary study presents the first results of a genealogical tree reconstruction of selected centenarians aged 105 and over, from certain areas. These are mostly situated in the province of Nuoro, an area with the highest rate of centenarians and where the female-to-male sex ratio tends to be male-biased. An accurate centenarian age validation was performed that required a meticulous examination of numerous civil status records and parish registers. An important finding was that longevity occurs among the ascendants of a particular branch of the family. The data used are still provisional but, should it apply to other validated cases, it would provide empirical evidence of a genetic component in longevity. A more thorough examination of the data available may yield deeper insights into the role played by endogamy and consanguinity.

W14.385 Allelic variation at the alcohol dehydrogenase ADH1C gene is associated with alcohol consumption but not with HDL-C concentrations in a Spanish population

Multiple logistic regression was used on serological data collected in the context of the Sardinian African swine fever (ASF) eradication program from pig farms in the province of Nuoro, Sardinia. The monthly percentage of ASFV-positive herds decreased significantly from October 1994 through March 1996 (P < 0.001). The farm-level risk of seropositivity to African swine fever virus (ASFV) was higher in free-range farms than in partial-confinement farms (odds ratios (OR) varied between 4.9 in October 1994, and 5.7 in March 1996, P < 0.001). The risk of infection for total-confinement farms was one-fifth of the risk for partial-confinement farms in October 1994 (OR = 0.2, P < 0.001), whereas in March 1996, the estimated OR was 0.57 and not significant (upper confidence limit = 1.1). The maintenance of ASFV in Sardinia was primarily associated with free-range pig farms. The natural logarithm of the number of pigs tested per visit in a farm was positively associated with the risk of herd seropositivity (OR = 2.6, P < 0.001).

Not all isolates are equal: linkage disequilibrium analysis on Xq13.3 reveals different patterns in Sardinian sub-populations.

Recent studies indicate that, whereas the Sardinian population as a whole is comparable to outbred populations for linkage disequilibrium (LD) mapping of common variants, LD in Sardinian sub-isolates is more extended, making these populations particularly suitable for this approach. To evaluate the extent of LD between microsatellite markers, we compared different sub-populations within Sardinia selected on the basis of their geographical position and isolation: two small isolated villages (Talana, Urzulei), two larger but remote areas (Ogliastra, Nuoro province) and a cohort of samples representing the wider Sardinian population. LD analysis was carried out by using six microsatellite markers that are located on Xq13.3 and that have been extensively studied in different populations. We found different extents and patterns of LD in the sub-population samples depending on their degree of isolation and demographic history. All LD measurements and haplotype analyses indicate that there is a decreasing trend from Talana (the most inbred population, LD up to 9.5-11.5 Mb) to the more outbred Sardinian population (LD only for intervals <2 Mb). In one village (Talana), five haplotype classes accounting for 80% of the entire sample perfectly matched five Ogliastra clusters, supporting the origin of the village from the Ogliastra genetic pool. In contrast, the other village (Urzulei) showed a different pattern of haplotypes with a closer relationship to the Nuoro region sub-population. LD analyses therefore show that even neighbouring isolate villages may differ in their genetic background. Here, we highlight the importance of selecting appropriate populations and/or sub-populations for the analysis of complex traits. Isolated sub-populations showing different extents of LD can provide a powerful method for mapping complex traits by LD scanning at relatively low marker density.