Patrimonio genetico delle pomacee in Sardegna: il pero: cenni storici e cultivar individuate

The cultivation of pomaceous varieties, especially the pear, has for many centuries been of great importance and widely diffused in Sardinia. This is confirmed by many historical documents, a brief riview of which is given in this paper. Also reviewed are the principal pomological and qualitative characteristics of pear cultivars, either of local origin or which were introduced in ancient times, and which can still be found on the island. For the most part they are cultivars either forgotten or on the way to becoming extinct, but which present special characteristics, both in form and taste, which justify plans being implemented for the recovery and exploitation. In fact, this idea appears to represent one of the approaches to the problem of limiting the importantion of fruit and vegetables into Sardinia: that of offering the consumer typical, high-quality produce with a «difference» with respect to italian national standards

Management of newly diagnosed patients with type 2 diabetes: What are the attitudes of physicians? A SUBITO!AMD survey on the early diabetes treatment in Italy

Early intensive therapy in type 2 diabetes can prevent complications. Nevertheless, metabolic control is often sub-optimal in newly diagnosed patients. This webbased survey aimed to evaluate opinions of physicians about treatment, priorities, and barriers in the care of patients first referred to diabetes clinics. Data on physician attitudes toward therapeutic preferences for two clinical case models (same clinical profile, except HbA1c levels of 8.6 and 7.3% at the first access, respectively) were collected. Participants were asked to rank from 1 (most important) to 6 (least important) a list of priorities and barriers associated with the care of new patients. Overall, 593 physicians participated. In both case models, metformin and education were primary options, although their combination with other classes of drugs varied substantially. Main priorities were ‘‘to teach the patient how to cope with the disease’’ and ‘‘to achieve HbA1c target’’; main barriers were ‘‘lack of time’’ and ‘‘long waiting list’’. At multivariate analyses, physicians from the South of Italy had a twofold higher likelihood to attribute a rank 1–2 to organizational barriers than those operating in the North (South vs. North: OR: 2.4; 95% CI 1.4–4.1; Center vs. North: OR: 2.4; 95% CI 0.9–3.2). In the absence of a widely accepted evidence-based therapeutic algorithm driving the therapeutic choices according to the patient characteristics, prescriptions vary according to physician preferences. Education is perceived as a key-strategy, but organizational barriers and geographic disparities are an obstacle. These findings can drive new strategies to reduce clinical inertia, attitudes variability, and geographic disparities

New insights on the systematics of echinoids belonging to the family Spatangidae Gray 1825 using a combined approach based on morphology, morphometry, and genetics.

Spatangoids are probably the least resolved group within echinoids, with known topological incongruencies between phylogenies derived from molecular (very scarce) and morphological data. The present work, based on the analysis of 270 specimens of Spatangidae (Echinoidea, Spatangoida) trawled in the Sardinian seas (Western Mediterranean), allowed us to verify the constancy of some characters that we consider to be diagnostic at the genus level —such as the path of the subanal fasciole and the relationship between labrum and adjacent ambulacral plates —and to distinguish two distinct forms within the studied material. Based on morphological characters, morphometrics, and molecular analyses (sequencing of two mitochondrial markers: cytochrome c oxidase subunit1 (COI) and 16S), most of the individuals were classified as morphotype A and attributed to the species Spatangus purpureus, the most common spatangoid in the Mediterranean Sea, while a few corresponded to a different morphotype (B), genetically close to the species Spatangus raschi. Preliminary morphological analyses seemed to indicate that morphotype B specimens from Sardinia are slightly different from S. raschi and from Spatangus subinermis individuals, the second species of the family known to occur in the Mediterranean Sea. On the basis of morpho-structural observations and molecular analyses, comparing Mediterranean living forms with species from other areas (Central Eastern Atlantic, North Sea and neighboring basins, South African Sea, Philippines and Indonesian Archipelago, New Zealand, and Hawaiian Islands), the clear distinction of S. purpureus from several other species classified as Spatangus was confirmed. Based on the morphological and genetic differences, we propose to maintain the genus Spatangus including in it only the type species S. purpureus among the living species and to establish the new genus Propespatagus nov. gen. to include several other species previously classified as Spatangus. The clear distinction among different genera was also detected in fossil forms of Spatangus, Propespatagus nov. gen., and Sardospatangus (†) from the European Oligo-Miocene sedimentary rocks of Germany; the Miocene of Ukraine, Italy, and Spatangoids are probably the least resolved group within echinoids, with known topological incongruencies between phylogenies derived from molecular (very scarce) and morphological data. The present work, based on the analysis of 270 specimens of Spatangidae (Echinoidea, Spatangoida) trawled in the Sardinian seas (Western Mediterranean), allowed us to verify the constancy of some characters that we consider to be diagnostic at the genus level —such as the path of the subanal fasciole and the relationship between labrum and adjacent ambulacral plates —and to distinguish two distinct forms within the studied material. Based on morphological characters, morphometrics, and molecular analyses (sequencing of two mitochondrial markers: cytochrome c oxidase subunit1 (COI) and 16S), most of the individuals were classified as morphotype A and attributed to the species Spatangus purpureus, the most common spatangoid in the Mediterranean Sea, while a few corresponded to a different morphotype (B), genetically close to the species Spatangus raschi. Preliminary morphological analyses seemed to indicate that morphotype B specimens from Sardinia are slightly different from S. raschi and from Spatangus subinermis individuals, the second species of the family known to occur in the Mediterranean Sea. On the basis of morpho-structural observations and molecular analyses, comparing Mediterranean living forms with species from other areas (Central Eastern Atlantic, North Sea and neighboring basins, South African Sea, Philippines and Indonesian Archipelago, New Zealand, and Hawaiian Islands), the clear distinction of S. purpureus from several other species classified as Spatangus was confirmed. Based on the morphological and genetic differences, we propose to maintain the genus Spatangus including in it only the type species S. purpureus among the living species and to establish the new genus Propespatagus nov. gen. to include several other species previously classified as Spatangus. The clear distinction among different genera was also detected in fossil forms of Spatangus, Propespatagus nov. gen., and Sardospatangus (†) from the European Oligo-Miocene sedimentary rocks of Germany; the Miocene of Ukraine, Italy, and Spatangoids are probably the least resolved group within echinoids, with known topological incongruencies between phylogenies derived from molecular (very scarce) and morphological data. The present work, based on the analysis of 270 specimens of Spatangidae (Echinoidea, Spatangoida) trawled in the Sardinian seas (Western Mediterranean), allowed us to verify the constancy of some characters that we consider to be diagnostic at the genus level —such as the path of the subanal fasciole and the relationship between labrum and adjacent ambulacral plates —and to distinguish two distinct forms within the studied material. Based on morphological characters, morphometrics, and molecular analyses (sequencing of two mitochondrial markers: cytochrome c oxidase subunit1 (COI) and 16S), most of the individuals were classified as morphotype A and attributed to the species Spatangus purpureus, the most common spatangoid in the Mediterranean Sea, while a few corresponded to a different morphotype (B), genetically close to the species Spatangus raschi. Preliminary morphological analyses seemed to indicate that morphotype B specimens from Sardinia are slightly different from S. raschi and from Spatangus subinermis individuals, the second species of the family known to occur in the Mediterranean Sea. On the basis of morpho-structural observations and molecular analyses, comparing Mediterranean living forms with species from other areas (Central Eastern Atlantic, North Sea and neighboring basins, South African Sea, Philippines and Indonesian Archipelago, New Zealand, and Hawaiian Islands), the clear distinction of S. purpureus from several other species classified as Spatangus was confirmed. Based on the morphological and genetic differences, we propose to maintain the genus Spatangus including in it only the type species S. purpureus among the living species and to establish the new genus Propespatagus nov. gen. to include several other species previously classified as Spatangus. The clear distinction among different genera was also detected in fossil forms of Spatangus, Propespatagus nov. gen., and Sardospatangus (†) from the European Oligo-Miocene sedimentary rocks of Germany; the Miocene of Ukraine, Italy, and North Africa; the Plio-Pleistocene of Italy; and the Mio-Pliocene of Florida (USA). The new data can help in addressing taxonomic ambiguities within echinoids, as well as in improving species identification, and hence biodiversity assessments in the Mediterranean region

Periostin Circulating Levels and Genetic Variants in Patients with Non-Alcoholic Fatty Liver Disease

Circulating periostin has been suggested as a possible biomarker in non-alcoholic fatty liver disease (NAFLD) in Asian studies. In the present study, we aimed to test its still controversial relevance in a Caucasian population. In patients with histologically-proven NAFLD (N. = 74; 10 with hepatocellular carcinoma, HCC) plasma periostin concentrations were analyzed. POSTN haplotype analysis was based on rs9603226, rs3829365, and rs1029728. Hepatitis C patients (N. = 81, 7 HCC) and healthy subjects (N. = 27) were used as controls. The median plasma periostin concentration was 11.6 ng/mL without differences amongst groups; it was not influenced by age, liver fibrosis or steatosis. However, possession of haplotype two (rs9603226 = G, rs3829365 = C, rs1028728 = A) was associated with lower circulating periostin compared to other haplotypes. Moreover, periostin was higher in HCC patients. At multivariate analysis, HCC remained the only predictor of high periostin. In conclusion, plasma periostin concentrations in Caucasians NAFLD patients are not influenced by the degree of liver disease, but are significantly higher in HCC. Genetically-determined differences may account for some of the variability. These data suggest extreme caution in predicting a possible future role of periostin antagonists as a rational therapeutic alternative for NAFLD, but show a potential periostin role in the management of NAFLD-associated HCC

OCT4 and the acquisition of oocyte developmental competence during folliculogenesis

The role that the transcription factor OCT4 plays during oocyte growth is yet unknown. In this review, we summarise the data on its potential role in the acquisition of oocyte developmental competence in the mouse. These studies describe the presence in MII oocytes and 2-cell embryos of an OCT4 transcriptional network that might be part of the molecular signature of maternal origin on which the inner cell mass and the embryonic stem cell-associated pluripotency is assembled and shaped. The Oct4-gene regulatory network thus provides a connection between eggs, early preimplantation embryos and embryonic stem cells

The Metabochip, a Custom Genotyping Array for Genetic Studies of Metabolic, Cardiovascular, and Anthropometric Traits

PMCID: PMC3410907This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited

Transcriptome based identification of mouse cumulus cell markers that predict the developmental competence of their enclosed antral oocytes

BACKGROUND: The cumulus cells (CCs) enveloping antral and ovulated oocytes have been regarded as putative source of non-invasive markers of the oocyte developmental competence. A number of studies have indeed observed a correlation between CCs gene expression, embryo quality, and final pregnancy outcome. Here, we isolated CCs from antral mouse oocytes of known developmental incompetence (NSN-CCs) or competence (SN-CCs) and compared their transcriptomes with the aim of identifying distinct marker transcripts. RESULTS: Global gene expression analysis highlighted that both types of CCs share similar transcriptomes, with the exception of 422 genes, 97.6% of which were down-regulated in NSN-CCs vs. SN-CCs. This transcriptional down-regulation in NSN-CCs was confirmed by qRT-PCR analysis of CC-related genes (Has2, Ptx3, Tnfaip6 and Ptgs2). Only ten of the 422 genes were up-regulated with Amh being the most up-regulated in NSN-CCs, with an average 4-fold higher expression when analysed by qRT-PCR. CONCLUSIONS: The developmental incompetence (NSN) or competence (SN) of antral oocytes can be predicted using transcript markers expressed by their surrounding CCs (i.e., Has2, Ptx3, Tnfaip6, Ptgs2 and Amh). Overall, the regulated nature of the group of genes brought out by whole transcriptome analysis constitutes the molecular signature of CCs associated either with developmentally incompetent or competent oocytes and may represent a valuable resource for developing new molecular tools for the assessment of oocyte quality and to further investigate the complex bi-directional interaction occurring between CCs and oocyte

GWAS of genetic factors affecting white blood cell morphological parameters in Sardinians uncovers influence of chromosome 11 innate immunity gene cluster on eosinophil morphology

Few genome-wide association studies (GWAS) analyzing genetic regulation of morphological traits of white blood cells have been reported. We carried out a GWAS of 12 morphological traits in 869 individuals from the general population of Sardinia, Italy. These traits, included measures of cell volume, conductivity and light scatter in four white-cell populations (eosinophils, lymphocytes, monocytes, neutrophils). This analysis yielded seven statistically significant signals, four of which were novel (four novel, PRG2, P2RX3, two of CDK6). Five signals were replicated in the independent INTERVAL cohort of 11 822 individuals. The most interesting signal with large effect size on eosinophil scatter (P-value = 8.33 x 10-32, beta = -1.651, se = 0.1351) falls within the innate immunity cluster on chromosome 11, and is located in the PRG2 gene. Computational analyses revealed that a rare, Sardinian-specific PRG2:p.Ser148Pro mutation modifies PRG2 amino acid contacts and protein dynamics in a manner that could possibly explain the changes observed in eosinophil morphology. Our discoveries shed light on genetics of morphological traits. For the first time, we describe such large effect size on eosinophils morphology that is relatively frequent in Sardinian population.Intramural Research Program of the National Institute on Aging (N01-AG-1-2109 and HHSN271201100005C); National Institutes of Health (NIH); by research grants from the Ministry of Science and Innovation (PGC2018-096049-B-I00); European Regional Development Fund (FEDER); Andalusian Government (BIO-198, US-1254317, US-1257019, P18-FR-3487 and P18HO-4091, US/JUNTA/FEDER, UE), University of Seville (VI PPIT) and the Ramón Areces Foundation. G.P.-M. was awarded a PhD fellowship from the Spanish Ministry of Education, Culture and Sport (FPU17/04604).Peer reviewe

Hundreds of variants clustered in genomic loci and biological pathways affect human height

Most common human traits and diseases have a polygenic pattern of inheritance: DNA sequence variants at many genetic loci influence the phenotype. Genome-wide association (GWA) studies have identified more than 600 variants associated with human traits, but these typically explain small fractions of phenotypic variation, raising questions about the use of further studies. Here, using 183,727 individuals, we show that hundreds of genetic variants, in at least 180 loci, influence adult height, a highly heritable and classic polygenic trait. The large number of loci reveals patterns with important implications for genetic studies of common human diseases and traits. First, the 180 loci are not random, but instead are enriched for genes that are connected in biological pathways (P = 0.016) and that underlie skeletal growth defects (P < 0.001). Second, the likely causal gene is often located near the most strongly associated variant: in 13 of 21 loci containing a known skeletal growth gene, that gene was closest to the associated variant. Third, at least 19 loci have multiple independently associated variants, suggesting that allelic heterogeneity is a frequent feature of polygenic traits, that comprehensive explorations of already-discovered loci should discover additional variants and that an appreciable fraction of associated loci may have been identified. Fourth, associated variants are enriched for likely functional effects on genes, being over-represented among variants that alter amino-acid structure of proteins and expression levels of nearby genes. Our data explain approximately 10% of the phenotypic variation in height, and we estimate that unidentified common variants of similar effect sizes would increase this figure to approximately 16% of phenotypic variation (approximately 20% of heritable variation). Although additional approaches are needed to dissect the genetic architecture of polygenic human traits fully, our findings indicate that GWA studies can identify large numbers of loci that implicate biologically relevant genes and pathways.

Determinants of weight, psychological status, food contemplation and lifestyle changes in patients with obesity during the COVID-19 lockdown: a nationwide survey using multiple correspondence analysis

Introduction The corona virus disease 2019 (COVID-19) pandemic forced most of the Italian population into lockdown from 11 March to 18 May 2020. A nationwide survey of Italian Clinical Nutrition and Dietetic Services (Obesity Centers or OCs) was carried out to assess the impact of lockdown restrictions on the physical and mental wellbeing of patients with obesity (PWO) who had follow-up appointments postponed due to lockdown restrictions and to compare determinants of weight gain before and after the pandemic. Methods We designed a structured 77-item questionnaire covering employment status, diet, physical activity and psychological aspects, that was disseminated through follow-up calls and online between 2 May and 25 June 2020. Data were analyzed by multiple correspondence analysis (MCA) and multiple linear regression. Results A total of 1,232 PWO from 26 OCs completed the questionnaires (72% female, mean age 50.2 +/- 14.2 years; mean BMI 34.7 +/- 7.6 kg/m(2); 41% obesity class II to III). During the lockdown, 48.8% gained, 27.1% lost, while the remainder (24.1%) maintained their weight. The mean weight change was +2.3 +/- 4.8 kg (in weight gainers: +4.0 +/- 2.4 kg; +4.2% +/- 5.4%). Approximately 37% of participants experienced increased emotional difficulties, mostly fear and dissatisfaction. Sixty-one percent reduced their physical activity (PA) and 55% experienced a change in sleep quality/quantity. The lack of online contact (37.5%) with the OC during lockdown strongly correlated with weight gain (p &lt; 0.001). Using MCA, two main clusters were identified: those with unchanged or even improved lifestyles during lockdown (Cluster 1) and those with worse lifestyles during the same time (Cluster 2). The latter includes unemployed people experiencing depression, boredom, dissatisfaction and increased food contemplation and weight gain. Within Cluster 2, homemakers reported gaining weight and experiencing anger due to home confinement. Conclusions Among Italian PWO, work status, emotional dysregulation, and lack of online communication with OCs were determinants of weight gain during the lockdown period