Genome-wide homozygosity in Maremmana cattle

The current availability of large numbers of single nucleotide polymorphisms (SNPs) throughout the genome makes these markers particularly suitable for the detection of patterns of genetic diversity and of genome-wide homozygosity in animal populations. The aim of this work was to estimate genetic diversity and homozygosity in the Maremmana cattle breed. We used a sample of 149 animals (males and females) genotyped with the BovineSNP50 v2 (54K) Illumina BeadChip. After editing for call-rate > 0.9 and removing SNP unassigned or on the sex chromosomes, 128 animals and 50,814 SNPs were left. We estimated the following genetic parameters: observed and expected heterozygosity (Ho and He), minor allele frequency (MAF), and the FIS statistic. We also scanned the genome for runs of homozygosity (ROH). In the present study, ROH were detected based on 20-SNP-long sliding-windows, and allowing for a maximum of 1 missing and 1 heterozygote genotype, and a maximum gap between consecutive SNP of 105 bp. ROH contained minimum 10 SNPs, and had a minimum length of 1 Mb and a minimum density of 1 SNP every 50 kbps. The average Ho and He were 0.374 \ub10.132 and 0.365 \ub10.120, respectively, and the average MAF was 0.274 \ub10130. These values are consistent with the range observed in other cattle breeds. We obtained some negative values for FIS (-0.162 to 0.180) which corresponded to animals with lower than average homozygosity. In total, 10,465 ROH were detected (81.75 per animal), with an average length of 2.69 Mb. Most ROH (74%) had length 64 2 Mb. ROH are contiguous lengths of homozygous genomic segments where the two inherited haplotypes are identical. ROH indicate genomic regions where a reduction in heterozygosity occurred, and offer new opportunities to estimate inbreeding (F). The inbreeding coefficient based on ROH (FROH) was estimated by the ratio between the total ROH length and the size of the genome in each animal. Average FROH was 0.0869 \ub10.032. Unlike inbreeding estimated based on Ho, FROH is not influenced by allele frequencies (sampling) and can distinguish recent from ancient inbreeding. However, FROH requires SNP positions to be known (unlike Ho). Two genomic regions with ROH in over 60% of the animals were found: one on BTA6 (38.6-39.7 Mbps), one on BTA13 (54.3-54.8 Mbps). These may highlight regions where selective pressures have shaped the genome of the Maremmana breed

Altered drainage patterns in patients with melanoma and previous axillary dissection.

The incidence of melanoma is increasing rapidly in the United States. Sentinel lymph node biopsy is an important diagnostic tool in the treatment and staging of melanoma. However, many patients with melanoma will have had lymph node surgery for previous melanoma or breast cancer. We set out to examine alterations in drainage patterns in patients with previous axillary dissection for breast cancer. We reviewed four patients with truncal and/or extremity melanomas and examined their lymphoscintigraphy and drainage patterns. Three patients with truncal melanoma mapped to cervical lymph nodes and a fourth patient with an arm melanoma mapped to her previously dissected axilla. Sentinel lymph node mapping is still an important adjunct in patients with melanoma despite previous axillary dissection

Birth control knowledge among freshmen of four Italian universities

Since sexual health education (SHE) is not mandatory in Italian schools, we conducted a survey on freshmen of four Italian university campuses in 2012 to investigate the respective level of sexual health knowledge (SHK) in relation to birth control, with the aim to inform public health policy makers. A convenience strategy was employed to sample 4,552 freshmen registered with various undergraduate courses at four Italian universities: Padua university (Veneto Region); university of Milan (Lombardy Region); university of Bergamo (Lombardy Region); university of Palermo (Sicily Region). We investigated the level of SHK on birth control using 6 proxy indicators: (1) the average length of a woman\u2019s period [outcome with 3 levels: wrong (base) vs. acceptable vs. correct]; (2) the most fertile interval within a woman\u2019s period (binary outcome: correct vs. wrong answer); (3) the event between the end of a period and the beginning of the next cycle (binary outcome: correct vs. wrong answer); (4) the average survival of spermatozoa in the womb (binary outcome: correct vs. wrong answer); (5) the concept of contraception (binary outcome: correct vs. wrong answer); (6) the efcacy of various contraceptives to prevent unintended pregnancies (linear score: 0\u201317). We ftted 6 separate models of multiple regression: multinomial for outcome 1; logistic for outcomes 2, 3, 4, 6; linear for outcome 6. Statistical estimates were adjusted for a number of socio-demographic factors. Results were expressed as odds ratios (OR) for the 4 multiple logistic regression models, linear coefcients (RC) for the linear regression model and relative risk ratio (RRR) for the multinomial logistic regression model. The level of signifcance of each risk estimate was set at 0.05. The level of SHK of freshmen sampled was rather low, as 60% interviewees did not know the average length of a woman\u2019s period, the average survival of spermatozoa in the womb and the concept of contraception, whilst the most fertile interval within a woman\u2019s period was known only to 55% of interviewees. The mean score of SHK on the efcacy of various contraceptive methods was only 5 (scale 0\u201317). Some categories of students were consistently and signifcantly less knowledgeable on birth control at multivariable analysis: males; students from the university of Palermo; those with vocational secondary school education and those not in a romantic relationship at the time the survey was conducted. The results of this survey clearly call for the introduction of SHE programs in Italian schools, as already done in several European countries. School SHE should start as early as possible, ideally even before secondary school. SHE should be holistic and delivered with a multiple agency coordinated approach involving the Ministry of Health, the Ministry of Education, University and Scientifc Research (MIUR), families, schools, public health departments, primary health care providers, pharmacists, media, other

Determinants of Length of Stay After Vaginal Deliveries in the Friuli Venezia Giulia Region (NorthEastern Italy), 2005\u20132015

Although length of stay (LoS) after childbirth has been diminishing in several high-income countries in recent decades, the evidence on the impact of early discharge (ED) on healthy mothers and term newborns after vaginal deliveries (VD) is still inconclusive and little is known on the characteristics of those discharged early. We conducted a population-based study in Friuli Venezia Giulia (FVG) during 2005\u20132015, to investigate the mean LoS and the percentage of LoS longer than our proposed ED benchmarks following VD: 2 days after spontaneous vaginal deliveries (SVD) and 3 days post instrumental vaginal deliveries (IVD). We employed a multivariable logistic as well as a linear regression model, adjusting for a considerable number of factors pertaining to health-care setting and timeframe, maternal health factors, newborn clinical factors, obstetric history factors, socio-demographic background and present obstetric conditions. Results were expressed as odds ratios (OR) and regression coefcients (RC) with 95% confdence interval (95%CI). The adjusted mean LoS was calculated by level of pregnancy risk (high vs. low). Due to a very high number of multiple tests performed we employed the procedure proposed by Benjamini-Hochberg (BH) as a further selection criterion to calculate the BH p-value for the respective estimates. During 2005\u20132015, the average LoS in FVG was 2.9 and 3.3 days after SVD and IVD respectively, and the pooled regional proportion of LoS>ED was 64.4% for SVD and 32.0% for IVD. The variation of LoS across calendar years was marginal for both vaginal delivery modes (VDM). The adjusted mean LoS was higher in IVD than SVD, and although a decline of LoS>\u2009ED and mean LoS over time was observed for both VDM, there was little variation of the adjusted mean LoS by nationality of the woman and by level of pregnancy risk (high vs. low). By contrast, the adjusted fgures for hospitals with shortest (centres A and G) and longest (centre B) mean LoS were 2.3 and 3.4 days respectively, among \u201clow risk\u201d pregnancies. The corresponding fgures for \u201chigh risk\u201d pregnancies were 2.5 days for centre A/G and 3.6 days for centre B. Therefore, the shift from \u201clow\u201d to \u201chigh\u201d risk pregnancies in all three latter centres (A, B and G) increased the mean adjusted LoS just by 0.2 days. By contrast, the discrepancy between maternity centres with highest and lowest adjusted mean LoS post SVD (hospital B vs. A/G) was 1.1 days both among \u201clow risk\u201d (1.1 = 3.4\u20132.3 days) and \u201chigh risk\u201d (1.1 = 3.6\u20132.5) pregnanices. Similar patterns were obseved also for IVD. Our adjusted regression models confrmed that maternity centres were the main explanatory factor for LoS after childbirth in both VDM. Therefore, health and clinical factors were less infuential than practice patterns in determining LoS after VD. Hospitalization and discharge policies following childbirth in FVG should follow standardized guidelines, to be enforced at hospital level. Any prolonged LoS post VD (LoS>\u2009ED) should be reviewed and audited if need be. Primary care services within the catchment areas of the maternity centres of FVG should be improved to implement the follow up of puerperae undergoing ED after VD. At the beginning of the 20th century home births were the norm and hospital deliveries very rare. Women started to deliver in hospital during World War 2 (WW2), in facilities near the military areas where their respective partners were training. Tis trend continued in the decades following WW2, with standard length of stay afer childbirth (LoS) increasing up to 10 days. In the 70 ies some USA hospitals started to assess the health of mothers and newborn for eligibility to returnhome within 12\u201324 hours afer childbirth, with a midwife on call for domiciliary care up to 3 days for 2 weekspost discharge. In 1992 the American Academy of Pediatrics (AAP) and the American College of Obstetricians and Gynecologists (ACOG) formalized the most frequently shared defnition of early discharge (ED) afer childbirth worldwide as a LoS less than 48 h post spontaneous vaginal deliveries (SVD) and less than 96 h post cesarean section (CS). Tereafer the reduction of LoS expanded to other high-income countries, with increasing applications of ED. LoS afer childbirth remained however a controversial aspect of obstetric care, creating an open debate not only on its impact on the health of mothers and babies but also on health policies, state legislations and functioning of the respective health care systems. Nevertheless, ED of mothers and newborn has in fact increased dramatically in several high-income countries over the past 10\u201315 years. However, the evidence on the impact of ED on healthy mothers and term newborns ( 6537 weeks) afer a vaginal delivery (VD) is still inconclusive and little is known of the characteristics of those discharged early. Since LoS has become a critical indicator of efciency of health care delivery, understanding its associated factors could provide information helpful in the reduction of health care costs, improvement in the delivery of obstetric care, containment of untoward events associated with comorbidities and complications requiring readmission. For instance, in Canada (excluding Quebec) from 2003 to 2010, neonatal readmission rates were lowest for LoS of 1\u20132 days following VD and 2\u20134 days afer CS. Several factors are reportedly associated with LoS in the open literature, including readiness for discharge (clinical and perceived) of the mother8,17\u201319. However, information on the impact of medical/obstetrical conditions associated with pregnancies is scarce or totally lacking. Using a comprehensive database with information on a considerable number of factors, we previously reviewed the case mix of hospital performance by LoS post SVD as well as instrumental vaginal deliveries (IVD) during 2005\u20132015 in Friuli Venezia Giulia (FVG), a region of North-Eastern Italy. In this study we present the impact of the outstanding determinants on LoS following SVD and IVD, with the aim of inforing health care policy makers

The sicilian rock partridge: latest data on genetic integrity from four different relict areas

Sicily (Italy) hosts a \u201crelict\u201d, endemic population of the birds Alectoris graeca whitakeri commonly known as Sicilian Rock Partridge. In the last decades, due to the risk of restocking with other European and Asiatic species for hunting purpose, a study was carried out to investigate the potential risk of hybridisation. The mtDNA control-region and nuclear microsatellites were genotyped. Due to the importance of the species, samples were mainly characterized by feather and stool samples, and rarely by carcasses found in the environment, from year 2011 to 2012. A panel of 7 microsatellite loci was validated. Three multiplexes that allowed the simultaneous amplification of 3 microsatellites, and 2 for other two microsatellites, for a total of 7 markers, were utilized. Results showed the occurrence of hybridization both towards the Middle Eastern species, A. chukar and the Northern European species, A. rufa. A total of 18.5% of the samples were collected from the wild environment showed a high degree of hybridization. This fact, even if linked to a small number of samples, highlights a potential risk of hybridization in 4 Sicilian provinces and underlines the importance of further investigations to understand the entity of the problem

Genomic diversity and population structure analysis reveal few genetic differences among Ethiopian indigenous sheep populations

African sheep, like other domestic sheep, are domesticated from the Asiatic mouflon (Ovis orientalis). They entered the continent through the North and the Horn of Africa regions following maritime and terrestrial trading routes. Ethiopia is one of the main entry points of various plant and animal domesticates into Africa. It is characterised by diverse agro-ecologies, ancient human ethnic diversity and the presence of indigenous sheep breeds/populations of unprecedented morphological diversity (e.g. tail types). Here, we investigate the genome diversity and population structure of 146 unrelated animals from 11 Ethiopian indigenous sheep populations. DNA was extracted from ear tissue punches and genotyped with the Illumina Ovine 50K SNP BeadChip assay. Sheep populations from The Caribbean, Europe, Middle East and China as well as from western, northern and southern Africa were included to clarify the genetic history of origin, introduction and dispersal of the species into Ethiopia. Principal component analysis (PCA), clearly separated all Ethiopian sheep from the other populations. Population structure and phylogenetic (neighbour-joining tree) analysis subdivided the Ethiopian indigenous sheep into three genetic clusters corresponding to their tail morphology (rump fat-tailed, short fat-tailed and long fat/thin-tailed population). It supports a common genetic ancestry for populations of each tail type in the country. Genetic distances among the Ethiopian populations were positively correlated with geographic distances (Mantel test, P < 0.001, r = 0.465) and the highest genetic diversity was recorded in the fat-tailed (short, rump and/or long fat-tailed) close to the Bab-el-Mandeb strait. However, despite their distinct morphology and separate geographic distribution, little genetic differentiation between Ethiopian populations are observed. This is most likely a consequence of their ancient and modern intermixing following their introduction into the country

Mental health in migrants contacting the mental health operational unit of the National Institute for Health, Migration and Poverty (NIHMP): preliminary data

Aim: Migration can lead to an increase in stress rates and can impact mental health, especially in certain migrant groups. Nonetheless, mental health needs and the importance of public health are not well captured in most studies using national samples. This study aimed to show the correlation between mental disorders, socio-demographic and cultural aspects among migrants. Subject and methods: One hundred nineteen migrants, applying for assessment to the Mental Health Operational Unit of the National Institute for Health, Migration and Poverty (NIHMP) in Rome, were recruited. Results: Migrants frequently reported mood disorders (mainly women). Men reported PTSD, somatization and adjustment disorders. Conclusions: Over time, diverse factors may produce a decline in an initially healthy migrant status. The research unveils a new focus on the psychopathology of migrants accessing the NIHMP, with important implications for migrants\u2019 mental health treatment and prevention

A Survey on Knowledge, Prevention, and Occurrence of Sexually Transmitted Infections among Freshmen from Four Italian Universities

Background. The peak of sexually transmitted infections (STI) among adolescents/young adults suggests a low level of prevention. In order to assess whether the level of sexual health education (SHE), received by several channels, was effective at improving sexual behaviors, we conducted a survey among freshmen from four Italian universities. Methods. This observational cross-sectional study was carried out with an anonymous self-reported paper questionnaire, administered during teaching lectures to university freshmen of the northern (Padua, Bergamo, and Milan campuses) and southern (Palermo campus) parts of the country. Knowledge of STI (a linear numerical score), knowledge of STI prevention (dichotomous variable: yes vs. no) and previous STI occurrence (polytomous variable: "no"; "don't know"; "yes") were the outcomes in the statistical analysis. Results. The final number of freshmen surveyed was 4552 (97.9% response rate). The mean age of respondents was 21.4 ± 2.2 years and most of them (70.3%) were females. A total of 60% of students were in a stable romantic relationship. Only 28% respondents knew the most effective methods to prevent STI (i.e., condom and sexual abstinence), with a slightly higher prevalence of correct answers among females (31.3%) than males (25.8%). Students with history of STIs were 5.1%; they reported referring mostly to their general practitioner (GP) (38.1%) rather than discussing the problem with their partner (13.1%). At multivariable analysis, a significantly higher level of STI knowledge was observed in older students (25+ years of age), biomedical students, and those from a non-nuclear family; lower levels were found among students of the University of Palermo, and those who completed a vocational secondary school education. Those who had less knowledge about the most effective tools to prevent STIs included males, students from the University of Palermo, students registered with educational sciences, economics/political sciences, those of foreign nationality, and those whose fathers had lower educational levels. The risk of contracting a STI was significantly lower only in students not in a stable relationship (relative risk ratio, RRR = 0.67; 95% confidence interval, 95%CI = 0.48; 0.94), whereas such risk was significantly higher in students with higher STI knowledge (RRR = 1.15; 95%CI = 1.08; 1.22). Discussion and Conclusions. University freshmen investigated in this study had poor knowledge of STIs and their prevention. Unexpectedly, those with higher levels of knowledge had an increased risk of STIs. There have been no educational interventions-with good quality and long-term follow-ups-that increased the confidence that such SHE programs could have population level effects. A new high-quality study is therefore recommended to assess the effectiveness of an intervention generating behavioral changes; increasing only STI knowledge may not be sufficient

A genome-wide comparison between selected and unselected Valle del Belice sheep reveals differences in population structure and footprints of recent selection

About three decades of breeding and selection in the Valle del Belìce sheep are expected to have left several genomic footprints related to milk production traits. In this study, we have assembled a dataset with 451 individuals of the Valle del Belìce sheep breed: 184 animals that underwent directional selection for milk production and 267 unselected animals, genotyped for 40,660 single-nucleotide polymorphisms (SNPs). Three different statistical approaches, both within (iHS and ROH) and between (Rsb) groups, were used to identify genomic regions potentially under selection. Population structure analyses separated all individuals according to their belonging to the two groups. A total of four genomic regions on two chromosomes were jointly identified by at least two statistical approaches. Several candidate genes for milk production were identified, corroborating the polygenic nature of this trait and which may provide clues to potential new selection targets. We also found candidate genes for growth and reproductive traits. Overall, the identified genes may explain the effect of selection to improve the performances related to milk production traits in the breed. Further studies using high-density array data, would be particularly relevant to refine and validate these results

Exploring genome-wide differentiation and signatures of selection in Italian and North American Holstein populations

Among Italian dairy cattle, the Holstein is the most reared breed for the production of Parmigiano Reggiano protected designation of origin cheese, which represents one of the most renowned products in the entire Italian dairy industry. In this work, we used a medium-density genome-wide data set consisting of 79,464 imputed SNPs to study the genetic structure of Italian Holstein breed, including the population reared in the area of Parmigiano Reggiano cheese production, and assessing its distinctiveness from the North American population. Multidimensional scaling and ADMIXTURE approaches were used to explore the genetic structure among populations. We also investigated putative genomic regions under selection among these 3 populations by combining 4 different statistical methods based either on allele frequencies (single marker and window-based) or extended haplotype homozygosity (EHH; standardized log-ratio of integrated EHH and cross-population EHH). The genetic structure results allowed us to clearly distinguish the 3 Holstein populations; however, the most remarkable difference was observed between Italian and North American stock. Selection signature analyses identified several significant SNPs falling within or closer to genes with known roles in several traits such as milk quality, resistance to disease, and fertility. In particular, a total of 22 genes related to milk production have been identified using the 2 allele frequency approaches. Among these, a convergent signal has been found in the VPS8 gene which resulted to be involved in milk traits, whereas other genes (CYP7B1, KSR2, C4A, LIPE, DCDC1, GPR20, and ST3GAL1) resulted to be associated with quantitative trait loci related to milk yield and composition in terms of fat and protein percentage. In contrast, a total of 7 genomic regions were identified combining the results of standardized log-ratio of integrated EHH and cross-population EHH. In these regions candidate genes for milk traits were also identified. Moreover, this was also confirmed by the enrichment analyses in which we found that the majority of the significantly enriched quantitative trait loci were linked to milk traits, whereas the gene ontology and pathway enrichment analysis pointed to molecular functions and biological processes involved in AA transmembrane transport and methane metabolism pathway. This study provides information on the genetic structure of the examined populations, showing that they are distinguishable from each other. Furthermore, the selection signature analyses can be considered as a starting point for future studies in the identification of causal mutations and consequent implementation of more practical application