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1.
Genet Epidemiol ; 47(3): 231-248, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-36739617

RESUMO

Linkage analysis, a class of methods for detecting co-segregation of genomic segments and traits in families, was used to map disease-causing genes for decades before genotyping arrays and dense SNP genotyping enabled genome-wide association studies in population samples. Population samples often contain related individuals, but the segregation of alleles within families is rarely used because traditional linkage methods are computationally inefficient for larger datasets. Here, we describe Population Linkage, a novel application of Haseman-Elston regression as a method of moments estimator of variance components and their standard errors. We achieve additional computational efficiency by using modern methods for detection of IBD segments and variance component estimation, efficient preprocessing of input data, and minimizing redundant numerical calculations. We also refined variance component models to account for the biases in population-scale methods for IBD segment detection. We ran Population Linkage on four blood lipid traits in over 70,000 individuals from the HUNT and SardiNIA studies, successfully detecting 25 known genetic signals. One notable linkage signal that appeared in both was for low-density lipoprotein (LDL) cholesterol levels in the region near the gene APOE (LOD = 29.3, variance explained = 4.1%). This is the region where the missense variants rs7412 and rs429358, which together make up the ε2, ε3, and ε4 alleles each account for 2.4% and 0.8% of variation in circulating LDL cholesterol. Our results show the potential for linkage analysis and other large-scale applications of method of moments variance components estimation.


Assuntos
Estudo de Associação Genômica Ampla , Modelos Genéticos , Humanos , Fenótipo , LDL-Colesterol/genética , Ligação Genética , Apolipoproteínas E/genética
2.
Nutr Neurosci ; 27(4): 382-391, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37023016

RESUMO

BACKGROUND: Depression is common among the elderly, resulting in poor quality of life and elevated healthcare expenditure. Among other factors, dietary habits could also affect this condition, although the specific food patterns involved remain to be established. The present study aimed to assess the role of plant- versus animal-dominant foods consumption on the affective state of nonagenarians from a Sardinian population, Italy, well known for its longevity (Blue Zone). METHODS: Data, including demographic, education, anthropometric parameters, monthly income, and comorbidity were recorded and analyzed. Symptomatic depression was assessed using the Geriatric Depression Scale (GDS) during a comprehensive home geriatric assessment; nutritional status was evaluated by a validated food frequency questionnaire. RESULTS: A total of 200 elderly subjects living in the Sardinian Blue Zone (mean age 93.9 ± 3.9 years) participated in the study; symptomatic depression was present in 51% of the whole cohort and was more common among women. Multivariable logistic regression showed a significantly greater risk of depression in people consuming plantbased foods (OR = 1.42, 95% CI 1.04-1.93), whereas moderate animal-derived foods consumption was associated with a better affective state (OR = 0.79, 95% CI 0.62-0.98). CONCLUSIONS: These findings indicate that a more balanced diet, including animal-derived foods, instead of an exclusive plant-dominant diet, may be more appropriate in the elderly, and abstention from animal-based food intake should not be recommended in advanced age to prevent depression.


Assuntos
Dieta Baseada em Plantas , Qualidade de Vida , Idoso de 80 Anos ou mais , Animais , Humanos , Feminino , Idoso , Dieta , Itália/epidemiologia , Inquéritos e Questionários
3.
BMC Ophthalmol ; 24(1): 306, 2024 Jul 23.
Artigo em Inglês | MEDLINE | ID: mdl-39044131

RESUMO

BACKGROUND: Usher syndrome (USH) encompasses a group of disorders characterized by congenital sensorineural hearing loss (SNHL) and retinitis pigmentosa (RP). We described the clinical findings, natural history, and molecular analyses of USH patients identified during a large-scale screening to identify quantitative traits related to ocular disorders in the SardiNIA project cohort. METHODS: We identified 3 USH-affected families out of a cohort of 6,148 healthy subjects. 9 subjects presented a pathological phenotype, with SNHL and RP. All patients and their family members underwent a complete ophthalmic examination including best-corrected visual acuity, slit-lamp biomicroscopy, fundoscopy, fundus autofluorescence, spectral-domain optical coherence tomography, and electrophysiological testing. Audiological evaluation was performed with a clinical audiometer. Genotyping was performed using several arrays integrated with whole genome sequence data providing approximately 22 million markers equally distributed for each subject analyzed. Molecular diagnostics focused on analysis of the following candidate genes: MYO7A, USH1C, CDH23, PCDH15, USH1G, CIB2, USH2A, GPR98, DFNB31, CLRN1, and PDZD7. RESULTS: A single missense causal variant in USH2A gene was identified in homozygous status in all patients and in heterozygous status in unaffected parents. The presence of multiple homozygous patients with the same phenotypic severity of the syndromic form suggests that the Sardinian USH phenotype is the result of a founder effect on a specific pathogenic variant related haplotype. The frequency of heterozygotes in general Sardinian population is 1.89. Additionally, to provide new insights into the structure of usherin and the pathological mechanisms caused by small pathogenic in-frame variants, like p.Pro3272Leu, molecular dynamics simulations of native and mutant protein-protein and protein-ligand complexes were performed that predicted a destabilization of the protein with a decrease in the free energy change. CONCLUSIONS: Our results suggest that our approach is effective for the genetic diagnosis of USH. Based on the heterozygous frequency, targeted screening of this variant in the general population and in families at risk or with familial USH can be suggested. This can lead to more accurate molecular diagnosis, better genetic counseling, and improved molecular epidemiology data that are critical for future intervention plans. TRIAL REGISTRATION: We did not perform any health-related interventions for the participants.


Assuntos
Linhagem , Síndromes de Usher , Humanos , Síndromes de Usher/genética , Síndromes de Usher/diagnóstico , Itália/epidemiologia , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Proteínas da Matriz Extracelular/genética , Análise Mutacional de DNA , Tomografia de Coerência Óptica , Fenótipo , Efeito Fundador , Mutação de Sentido Incorreto , Eletrorretinografia , Adulto Jovem , Adolescente , Acuidade Visual , Testes Genéticos/métodos
4.
Med Vet Entomol ; 37(1): 105-110, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36193883

RESUMO

Bluetongue disease (BT), caused by Bluetongue virus (BTV), infects wild and domestic ruminants, causing severe economic damage in the cattle and sheep industry. Proven vectors of BTV are biting midges belonging to the Culicoides genus, but other arthropods are considered potential vectors, such as ticks, mosquitoes, wingless flies, and sand flies. The present study represents the first attempt to evaluate the vectorial capacity of Culex pipiens and Aedes albopictus for BTV. Mosquitoes were artificially fed with blood containing BTV serotype 1. Infection, dissemination and transmission rates were evaluated at 0, 3, 7, 14 and 21 days after an infected blood meal. Viral RNA was only detected up to 3 days post infection in the bodies of both species. This study indicates that the two Italian populations of Cx. pipiens and Ae. albopictus are not susceptible to BTV infection.


Assuntos
Aedes , Vírus Bluetongue , Bluetongue , Doenças dos Bovinos , Culex , Doenças dos Ovinos , Animais , Bovinos , Ovinos , Mosquitos Vetores , Itália
5.
Neurol Sci ; 44(8): 2781-2786, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-36964314

RESUMO

BACKGROUND: While amyotrophic lateral sclerosis (ALS) incidence has increased during the last decades, structured evidence on increased prevalence is lacking. After reporting a significant yearly increase of ALS incidence over a 10-year period, we checked for increased prevalence in Southern Sardinia over a quinquennium. METHODS: ALS patients (El Escorial Criteria) recruited from the study area and followed at ALS Centre, University of Cagliari, were included. Prevalence was computed for January 1, 2015 and January 1, 2019 and was calculated for the overall ALS population as well as for tracheostomized and non-tracheostomized patients. RESULTS: We observed a non-significant trend for greater ALS prevalence in 2019 than in 2015 (18.31 per 100,000 vs. 15.26 per 100,000; rate ratio: 1.83, p = 0.01). By contrast, a significantly raising 2015 to 2019 ALS prevalence was observed in tracheostomized patients. No significant difference could be detected in non-tracheostomized. CONCLUSIONS: We provided the highest prevalence rate to date reported in the worldwide literature, and also showed a non-significant raising ALS prevalence in the Sardinian population over a quinquennium. The trend in raising ALS prevalence was likely due to extended survival due to invasive interventions.


Assuntos
Esclerose Lateral Amiotrófica , Humanos , Esclerose Lateral Amiotrófica/epidemiologia , Prevalência , Itália/epidemiologia , Incidência
6.
Graefes Arch Clin Exp Ophthalmol ; 261(3): 691-698, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36264335

RESUMO

PURPOSE: To ascertain the prevalence and clinical and genetic features of age-related macular degeneration (AMD) in subjects living in the Lanusei valley, Central Sardinia, Italy, involved in a study on ageing (SardiNIA project). METHODS: A total of 814 volunteers aged ≥ 50 years, randomly selected from the SardiNIA project dataset, were included. A color fundus (CF) photograph of the 30° central retina of each eye was obtained and graded according to the Age-Related Eye Disease Study system. Life-style choices were investigated using standardized questionnaires. The concentrations of several inflammatory biomarkers (i.e., complement component, fibrinogen, and C-reactive protein) were measured. Polygenic risk score (PRS) was calculated and compared with results obtained from a European cohort. RESULTS: A total of 756 subjects had gradable CF photographs for AMD detection. In 91.3%, no signs of AMD were observed. The prevalence rates of early and late AMDs were 6.9% and 0.6%, respectively. A total of 85% of subjects were physically active; only 13.5% were current smokers. Low concentrations of complement component, fibrinogen, and C-reactive protein were found. We calculated the polygenic risk scores (PRS) using 40 AMD markers distributed on several candidate genes in Europeans and Sardinians. The mean PRS value was significantly lower in Sardinians than in the Europeans (0.21 vs. 0.248, respectively, p = 1.18 × 10-77). CONCLUSIONS: In our cohort, most subjects showed no sign of any AMD type and late AMD was a condition rarely observed. Results of genetic, biochemical, and life-style investigation support the hypothesis that Sardinia population may present of a peculiar background with a protective effect against AMD development.


Assuntos
Proteína C-Reativa , Degeneração Macular , Humanos , Degeneração Macular/diagnóstico , Degeneração Macular/epidemiologia , Degeneração Macular/genética , Fatores de Risco , Medição de Risco , Biomarcadores
7.
Sensors (Basel) ; 23(17)2023 Aug 25.
Artigo em Inglês | MEDLINE | ID: mdl-37687869

RESUMO

Radio telescopes are used by astronomers to observe the naturally occurring radio waves generated by planets, interstellar molecular clouds, galaxies, and other cosmic objects. These telescopes are equipped with radio receivers that cover a portion of the radio frequency (RF) and millimetre-wave spectra. The Sardinia Radio Telescope (SRT) is an Italian instrument designed to operate between 300 MHz and 116 GHz. Currently, the SRT maximum observational frequency is 26.5 GHz. A feasibility study and preliminary tests were performed with the goal of equipping the SRT with a W-band (84-116 GHz) mono-feed radio receiver, whose results are presented in this paper. In particular, we describe the adaptation to the SRT of an 84-116 GHz cryogenic receiver developed by the Institute de Radio Astronomie Millimétrique (IRAM) for the Plateau de Bure Interferometer (PdBI) antennas. The receiver was upgraded by INAF with a new electronic control system for the remote control from the SRT control room, with a new local oscillator (LO), and with a new refrigeration system. Our feasibility study includes the design of new receiver optics. The single side band (SSB) receiver noise temperature measured in the laboratory, Trec ≈ 66 K at 86 GHz, is considered sufficiently low to carry out the characterisation of the SRT active surface and metrology system in the 3 mm band.

8.
Fetal Pediatr Pathol ; 42(4): 614-618, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-36999658

RESUMO

BACKGROUND: Screening for congenital heart diseases by pulse oximetry is used for the initial assessment of the neonate. Variants of hemoglobin F can compromise light absorbance, inducing erroneous results. CASE REPORT: Two infants screened for congenital heart disease showed an asymptomatic low peripheral oxygen saturation. Arterial blood gases analysis revealed a normal arterial pressure of oxygen and oxygen saturation. More likely and/or severe causes of hypoxemia were ruled out. This "artifact" with SpO2-SaO2 dissociation, and after exclusion of other common etiologies of hypoxemia, raised the clinical suspicion of hemoglobinopathy. Hemoglobin molecular and genetic studies identified specific mutations in gamma chains from hemoglobin F, named hemoglobin F Sardinia. CONCLUSION: Hemoglobin F variants may result in low peripheral oxygen saturation readings by pulse oximetry, explaining the discordance in the clinical appearance and low peripheral oxygen saturation readings.


Assuntos
Hemoglobina Fetal , Cardiopatias Congênitas , Recém-Nascido , Lactente , Humanos , Oximetria/efeitos adversos , Oximetria/métodos , Oxigênio , Hipóxia/diagnóstico , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/complicações
9.
Neurol Sci ; 43(1): 419-425, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34791565

RESUMO

PURPOSE: To study for the first time the incidence of adult-onset CNS tumors in Southern Sardinia, Italy. METHODS: Clinical records of patients > 18 years old who were diagnosed with primary CNS tumors during 2016-2019 in the study area were reviewed. Meningiomas, cranial/paraspinal nerve tumors, lymphomas, and pituitary tumors were excluded. Cases were classified according to the 2016 WHO classification of CNS tumors and to the morphology codes from the International Classification of Diseases-Oncology, third edition. Age-adjusted incidence rates were calculated by the direct method to the 2011-2020 European standard population. Kulldorff's spatial scan statistic was used to identify geographic clusters of patients who shared increased/decreased tendency to develop CNS tumors. RESULTS: CNS tumors were diagnosed in 234 incident patients, but histological diagnosis was available in 222/234 patients (95%) aged 64.3 ± 13.5 years at diagnosis. Crude incidence rate was 7.1 per 100,000 persons-year (95% CI, 6.2-8.1), 6.2 per 100,000 persons-year (95% CI, 5.4-7.0) when age-adjusted. CNS tumors were more frequent in men and after age 40. Glioblastoma accounted for 76% of the total (adjusted rate, 4.7 per 100,000 persons-year; 95% CI, 4.0-5.4). Spatial analysis revealed geographic variations of glioblastoma incidence within the study area. CONCLUSION: Although the distribution of tumor diagnoses in Sardinia reflects expected age and gender-related patterns in western populations, our findings would indicate a slightly higher incidence of glial tumors, glioblastoma in particular, in Sardinia than in other European countries. The identification of spatial clusters of high/low risk will serve as a resource for etiological research.


Assuntos
Neoplasias Encefálicas , Neoplasias do Sistema Nervoso Central , Neoplasias Meníngeas , Adolescente , Adulto , Neoplasias do Sistema Nervoso Central/epidemiologia , Humanos , Incidência , Itália/epidemiologia , Masculino
10.
J Invertebr Pathol ; 192: 107783, 2022 07.
Artigo em Inglês | MEDLINE | ID: mdl-35671794

RESUMO

This work reports for the first time the so-called bald sea urchin disease of the populations of Paracentrotus lividus in Sardinia (Italy). Following the disease occurrence reported by local fishermen of about 35% on the collected specimens for commercial purpose, the phenomenon was evaluated in two areas. Animals displayed external lesions represented by loss of spines and greenish/brownish skeleton patches. Microscopy of exoskeleton and tube feet showed haemocytosis with associated bacteria; gut and intestine histopathology revealed inflammatory lesions of different type and intensity. Microbiological and molecular analysis revealed the presence of the strains belonging to the Vibrio splendidus clade. Due to the important ecological role of Paracentrotus lividus in the Mediterranean Sea, this report represents a wake-up call for the entire basin worth of further insights.


Assuntos
Paracentrotus , Vibrio , Animais , Itália , Mar Mediterrâneo
11.
Proc Natl Acad Sci U S A ; 116(13): 6007-6012, 2019 03 26.
Artigo em Inglês | MEDLINE | ID: mdl-30804182

RESUMO

When and why did the Phoenicians initiate long-term connections between the Levant and western Europe? This is one of the most hotly debated questions in ancient Mediterranean history and cultural research. In this study, we use silver to answer this question, presenting the largest dataset of chemical and isotopic analyses of silver items from silver hoards found in Phoenician homeland sites. Intertwining lead isotope analysis of silver items with precise archaeological context and chronology, we provide analytical evidence for the onset of Phoenician westward expansion. We suggest that the quest for silver instigated a long, exploratory phase, first in Anatolia (Asia Minor) and Sardinia, and subsequently in the Iberian Peninsula. This phase preceded the establishment of sustainable, flourishing Phoenician colonies in the West by over a century. In so doing, our results buttress the "precolonization" theory, accord it a firm chronological framework, and demonstrate that the quest for silver (and probably other metals) was an incentive for Phoenician westward expansion. Furthermore, our results show that the Phoenicians introduced innovative silver production methods to historic Europe.

12.
Sensors (Basel) ; 22(11)2022 Jun 02.
Artigo em Inglês | MEDLINE | ID: mdl-35684881

RESUMO

The Sardinia Radio Telescope is a quasi-Gregorian system with a shaped 64 m diameter primary reflector and a 7.9 m diameter secondary reflector. It was designed to operate with high efficiency across the 0.3-116 GHz frequency range. The telescope is equipped with a cryogenic coaxial dual-frequency L-P band receiver, which covers a portion of the P-band (305-410 MHz) and the L-band (1300-1800 MHz). Although this receiver has been used for years in its original design, with satisfactory results, it presents some parts that could be upgraded in order to improve the performances of the system. With the passing of time and with technology advances, the presence of unwanted human-made signals in the area around the telescope, known as radio frequency interferences, has grown exponentially. In addition, the technology of the receiver electronic control system became obsolete and it could be replaced with next-generation electronic boards, which offer better performances both service reliability and low generation of unwanted radio frequency signals. In this paper, a feasibility study for improving the L-P band receiver is discussed, taking into account the mitigation of the main radio frequency interferences. With this study, it is possible to have a sensitive instrument that can be used for scientific research at low frequencies (P- and L-bands), which are usually populated by signals from civil and military mobile communications, TV broadcasting and remote sensing applications.

13.
Parasitol Res ; 120(1): 289-300, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-33205238

RESUMO

Leishmaniasis is a widespread, vector-borne parasitosis causing clinical manifestations in animals and in humans. In dogs, Canine Leishmaniasis has been reported in as much as 50 countries and the Mediterranean basin is known to be one of the most affected zones. Within these areas, the Island of Sardinia (Italy) has long been considered endemic for leishmaniasis and the presence of two arthropod vectors has recently been reported there. Nevertheless, to date, no epidemiological surveys regarding CanL have been carried out on the island. Hence, for the first time, the seroprevalence and the risk factors were investigated. Blood samples, as well as clinical and general information from 1.147 dogs, were collected and analyzed. Dogs consisted of two distinct populations, namely "owned dogs" and "kennel dogs." Anti-Leishmania IgG antibodies were detected using IFAT and samples were scored as positive at a cut-off dilution of 1:80. Data was analyzed using a Chi-squared test and bivariate and multivariate analyses were performed. Overall, 15.4% of dogs were found to be infected with CanL while only 44.1% of these animals exhibited clinical signs. Owned dogs (27.2%) were found to be infected more often than kennel dogs (10.6%); male dogs were found to be more frequently infected than female dogs and the number of infected animals increases with age. The present survey confirmed the endemic nature of leishmaniasis in Sardinia with a similar seroprevalence as mainland Italy. The results obtained serve as validation for the hypothesis that, in endemic areas, clinical CanL representations constitute only a fraction of the leishmaniasis cases.


Assuntos
Anticorpos Antiprotozoários/sangue , Doenças do Cão/epidemiologia , Leishmania infantum/isolamento & purificação , Leishmaniose/epidemiologia , Leishmaniose/veterinária , Animais , Doenças do Cão/parasitologia , Cães , Feminino , Imunoglobulina G/sangue , Itália/epidemiologia , Leishmania infantum/imunologia , Masculino , Fatores de Risco , Estudos Soroepidemiológicos
14.
Parasitol Res ; 120(7): 2533-2542, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-34146127

RESUMO

Cystic echinococcosis (CE), a parasitic zoonosis of public health and economic concern, is highly endemic in Sardinia, Italy. The study involved examining the intraspecific variability and demographic structure of Echinococcus granulosus sensu stricto (s.s.) in common hosts of this parasite. Molecular surveillance included the fragment amplification of a partial mitochondrial gene, cox1 (750 bp), for a total of 69 isolates derived from sheep (n = 52), cattle (n = 11), pigs (n = 4), and goats (n = 2). It was ascertained that E. granulosus s.s. was the primary agent of infection among these ungulates and G1 genotype was highly prevalent (79.71%). Considerable intraspecific variation was found, revealing the existence of 22 haplotypes with relatively high haplotype (0.8555 ± 0.033) and low nucleotide diversities (0.00281 ± 0.00030). Population demographics indicated an expanding parasitic population signifying negative deviation from neutrality indices. Little genetic differentiation was found between the subpopulations of E. granulosus s.s. in the island. Moreover, the geographic dispersal of genotypes G1 and G3 also indicated similarity between Sardinian and mainland Echinococcus granulosus s.s. populations reaffirming the sympatric occurrence and efficient transmission of G1 and G3 genotypes. Molecular survey of CE has the potential to yield baseline information on the infective genotypes among the intermediate hosts and helps in devising suitable control strategies for curtailing the disease.


Assuntos
Doenças dos Bovinos/parasitologia , Equinococose/veterinária , Echinococcus granulosus/fisiologia , Doenças das Cabras/parasitologia , Doenças dos Ovinos/parasitologia , Doenças dos Suínos/parasitologia , Animais , Bovinos , Doenças dos Bovinos/epidemiologia , Equinococose/epidemiologia , Equinococose/parasitologia , Echinococcus granulosus/classificação , Echinococcus granulosus/genética , Genes Mitocondriais , Variação Genética , Genótipo , Doenças das Cabras/epidemiologia , Cabras , Haplótipos , Humanos , Itália/epidemiologia , Mutação , Filogenia , Prevalência , Ovinos , Doenças dos Ovinos/epidemiologia , Suínos , Doenças dos Suínos/epidemiologia
15.
Chem Biodivers ; 18(6): e2100053, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33932088

RESUMO

The Cistaceae family is well represented in Sardinia, and the Cistus genus is widely used in traditional medicine. Nowadays only few studies have been performed on this genus vegetating in Sardinia in spite of its ethnobotanical importance. Moreover, in the past there have been conflicting opinions among botanists for the exact assignment of the species growing in Sardinia. We started several years ago to carried out studies on this genus and in the present study was to evaluate the in vitro activity of several samples of Cistus salvifolius L., Cistus monspeliensis L., and Cistus albidus L. collected in Sardinia as antimicrobial agents against Escherichia coli, Staphylococcus aureus, and four Candida species and their antioxidant activity using DPPH, ABTS, and FRAP assays. Furthermore, the phenolic content and composition of the extracts were first evaluated. Using statistical multivariate analysis on the complete metabolomics profile of all Cistus species growing wild in Sardinia, we confirmed the botanical classification, and we observed an interesting correlation between metabolomics profile and antioxidant activity.


Assuntos
Antibacterianos/farmacologia , Antifúngicos/farmacologia , Antioxidantes/farmacologia , Cistus/química , Fenóis/farmacologia , Extratos Vegetais/farmacologia , Antibacterianos/análise , Antibacterianos/metabolismo , Antifúngicos/análise , Antifúngicos/metabolismo , Antioxidantes/análise , Antioxidantes/metabolismo , Benzotiazóis/antagonistas & inibidores , Compostos de Bifenilo/antagonistas & inibidores , Candida/efeitos dos fármacos , Escherichia coli/efeitos dos fármacos , Itália , Metabolômica , Testes de Sensibilidade Microbiana , Análise Multivariada , Fenóis/análise , Fenóis/metabolismo , Picratos/antagonistas & inibidores , Extratos Vegetais/análise , Extratos Vegetais/metabolismo , Staphylococcus aureus/efeitos dos fármacos , Ácidos Sulfônicos/antagonistas & inibidores
16.
Ann Hum Biol ; 48(3): 203-212, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-34459339

RESUMO

CONTEXT: For many years the Sardinian population has been the object of numerous studies because of its unique genetic structure. Despite the extreme abundance of papers, various aspects of the peopling and genetic structure of Sardinia still remain uncertain and sometimes controversial. OBJECTIVE: We reviewed what has emerged from different studies, focussing on some still open questions, such as the origin of Sardinians, their relationship with the Corsican population, and the intra-regional genetic heterogeneity. METHODS: The various issues have been addressed through the analysis of classical markers, molecular markers and, finally, genomic data through next generation sequencing. RESULTS AND CONCLUSIONS: Although the most ancient human remains date back to the end of the Palaeolithic, Mesolithic populations brought founding lineages that left evident traces in the modern population. Then, with the Neolithic, the island underwent an important demographic expansion. Subsequently, isolation and genetic drift contributed to maintain a significant genetic heterogeneity, but preserving the overall homogeneity on a regional scale. At the same time, isolation and genetic drift contributed to differentiate Sardinia from Corsica, which saw an important gene flow from the mainland. However, the isolation did not prevent gene flow from the neighbouring populations whose contribution are still recognisable in the genome of Sardinians.


Assuntos
DNA Antigo/análise , Fluxo Gênico , Marcadores Genéticos , Genoma Humano , Migração Humana , Genômica , Humanos , Itália
17.
Ann Hum Biol ; 48(3): 247-259, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-34459340

RESUMO

BACKGROUND: Phoenician and Punic expansions have been protagonists of intense trade networks and settlements in the Mediterranean Sea. AIMS: The maternal genetic variability of ancient Punic samples from the Sardinian necropolis of Tharros was analysed, with the aim to explore genetic interactions and signatures of past population events. SUBJECTS AND METHODS: The mtDNA HVS-I and coding region SNPs were analysed in 14 Punic samples and 74 modern individuals from Cabras and Belvì (for which the HVS-II region was also analysed). The results were compared with 5,590 modern Euro-Mediterranean sequences and 127 ancient samples. RESULTS: While contemporary groups fall within the genetic variability of other modern Sardinians, our Punic samples reveal proximity to present-day North-African and Iberian populations. Furthermore, Cabras and Belvì cluster mainly with pre-Phoenician groups, while samples from Tharros project with other Punic Sardinian individuals. CONCLUSION: This study provides the first preliminary insights into the population dynamics of the Punic site of Tharros. While the number of currently available samples does not allow definitive investigation of the connection with indigenous Sardinian groups, our results seem to confirm internal migratory phenomena in the central-western Mediterranean and female participation in the Punic mobility.


Assuntos
DNA Antigo/análise , DNA Mitocondrial/análise , Variação Genética , Migração Humana , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Itália , Masculino , Dinâmica Populacional , Tunísia
18.
Neurogenetics ; 21(4): 251-257, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32458274

RESUMO

In genetic prion diseases (gPrD), five genetic variants (E200K, V210I, V180I, P102L, and D178N) are responsible for about 85% of cases. The R208H is one of the several additional rare mutations and to date, only 16 cases carrying this mutation have been reported worldwide. To describe the phenotypic features of 5 affected patients belonging to apparently unrelated Sardinian (Italian) families with R208H gPrD, and provide evidence for a possible founder effect are the aims of this study. The R208H PRNP mutation has a much higher relative frequency in Sardinia than elsewhere in Italy (72% vs. 4.4% of gCJD cases). Our cohort shared similar phenotypic features to the previously described patients with R208H-129M haplotype with most patients showing the classical Creutzfeldt-Jakob disease (CJD) phenotype. The analysis of 10 controls and 5 patients by NGS sequencing identified 4 haplotypes, 3 associated with the wild type variant, and one (H1) shared by all patients carrying the 208His variant. This is the first report of a regional cluster for R208H mutation in gPrD and the first report of the presence of a common ancestor for this Sardinian R208H cluster, confirming the probable consequences of genetic isolation process even for rare diseases.


Assuntos
Síndrome de Creutzfeldt-Jakob/genética , Efeito Fundador , Mutação , Proteínas Priônicas/genética , Idoso , Alelos , Análise por Conglomerados , Saúde da Família , Feminino , Haplótipos , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Itália/epidemiologia , Masculino , Pessoa de Meia-Idade , Fenótipo
19.
Mult Scler ; 26(3): 372-380, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-30793660

RESUMO

BACKGROUND: Partial surveys in sub-regions of Sardinia have suggested a high prevalence of multiple sclerosis (MS) on the island, relative to other Mediterranean populations. We assessed the island-wide prevalence of MS and its detailed distribution in Sardinia. METHODS: The study population consisted of 5677 MS patients, 1735 men and 3942 women, living in Sardinia. Neurologists retrospectively examined electronic and paper-based records of patients with a diagnosis of MS. The data were then linked to the administrative health information systems. Crude, age-, and sex-specific prevalence estimates of disease were calculated. RESULTS: The overall age-adjusted MS prevalence was 330 per 100,000 (95% confidence interval (CI) 321-338) in individuals older than 15 years, 447 in women (95% CI 433-461), and 205 in men (95% CI 195-214). The prevalence was highest in the Ogliastra and Nuoro districts, respectively, 425 (95% CI 372-478) and 419 (95% CI 387-451), and lowest in the Olbia-Tempio district, 217 (95% CI 195-239). Most cases had relapsing-remitting MS (79.3%), 16.3% had secondary-progressive MS, and 4.4% had primary-progressive MS. CONCLUSION: These prevalence are among the highest reported so far worldwide. They provide estimates for comparative analyses in other populations and are essential for public health interventions.


Assuntos
Esclerose Múltipla Crônica Progressiva/epidemiologia , Esclerose Múltipla Recidivante-Remitente/epidemiologia , Adolescente , Adulto , Idoso , Estudos Transversais , Feminino , Humanos , Itália/epidemiologia , Masculino , Ilhas do Mediterrâneo/epidemiologia , Pessoa de Meia-Idade , Prevalência , Adulto Jovem
20.
Virus Genes ; 56(3): 325-328, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32088806

RESUMO

Circoviruses are small circular DNA viruses causing severe pig and poultry disease, recently identified in various bat species worldwide. We report the detection and full-genome molecular characterization of a novel bat-associated Circovirus identified in faecal samples of Miniopterus schreibersii bats (Schreiber's bent-winged bats) from Sardinia, Italy. Full-genomic sequencing revealed a new putative member of Circoviridae family, with a genome size of 2063 nt. Sequencing allowed the characterization of the two major ORFs, inversely arranged, encoding replicase and capsid proteins, as well as the finding of a polythymidine tract within the genome, and highlighted phylogenetic relationships of the novel virus. This is the first report of circovirus in European bats. Giving the high level of genetic diversity of bat circoviruses, it is paramount to further investigate the relationships between these viruses and bats.


Assuntos
Quirópteros/virologia , Circovirus/classificação , Circovirus/genética , Genoma Viral , Genômica , Animais , Genômica/métodos , Filogenia
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