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Background: Single-photon emission computed-tomography (SPECT) allows the quantification of LV eccentricity index (EI), a measure of cardiac remodeling. We sought to evaluate the feasibility of EI measurement with SPECT myocardial perfusion imaging and its interactions with relevant LV functional and structural parameters., Methods and Results: Four-hundred and fifty-six patients underwent myocardial perfusion imaging on a Cadmium-Zinc-Telluride (CZT) camera. The summed rest, stress, and difference scores were calculated. From rest images, the LV end-diastolic (EDV) and end-systolic volumes, ejection fraction (EF), and peak filling rate (PFR) were calculated. In every patient, the EI, ranging from 0 (sphere) to 1 (line), was computed using a dedicated software (QGS/QPS; Cedars-Sinai Medical Center). Three-hundred and thirty-eight/456 (74%) patients showed a normal EF (>50%), while 26% had LV systolic dysfunction. The EI was computed from CZT images with excellent reproducibility (interclass correlation coefficient: 0.99, 95% CI 0.98-0.99). More impaired EI values correlated with the presence of a more abnormal LV perfusion (P < .001), function (EF and PFR, P < .001), and structure (EDV, P < .001). On multivariate analysis, higher EDV (P < .001) and depressed EF (P = .014) values were independent predictors of abnormal EI., Conclusions: The evaluation of LV eccentricity is feasible on gated CZT images. Abnormal EI associates with significant cardiac structural and functional abnormalities.

Background: Patterns of homozygosity can be influenced by several factors, such as demography, recombination, and selection. Using the goat SNP50 BeadChip, we genotyped 3171 goats belonging to 117 populations with a worldwide distribution. Our objectives were to characterize the number and length of runs of homozygosity (ROH) and to detect ROH hotspots in order to gain new insights into the consequences of neutral and selection processes on the genome-wide homozygosity patterns of goats., Results: The proportion of the goat genome covered by ROH is, in general, less than 15% with an inverse relationship between ROH length and frequency i.e. short ROH (< 3 Mb) are the most frequent ones. Our data also indicate that ~ 60% of the breeds display low F ROH coefficients (< 0.10), while ~ 30 and ~ 10% of the goat populations show moderate (0.10 < F ROH  < 0.20) or high (> 0.20) F ROH values. For populations from Asia, the average number of ROH is smaller and their coverage is lower in goats from the Near East than in goats from Central Asia, which is consistent with the role of the Fertile Crescent as the primary centre of goat domestication. We also observed that local breeds with small population sizes tend to have a larger fraction of the genome covered by ROH compared to breeds with tens or hundreds of thousands of individuals. Five regions on three goat chromosomes i.e. 11, 12 and 18, contain ROH hotspots that overlap with signatures of selection., Conclusions: Patterns of homozygosity (average number of ROH of 77 and genome coverage of 248 Mb; F ROH  < 0.15) are similar in goats from different geographic areas. The increased homozygosity in local breeds is the consequence of their small population size and geographic isolation as well as of founder effects and recent inbreeding. The existence of three ROH hotspots that co-localize with signatures of selection demonstrates that selection has also played an important role in increasing the homozygosity of specific regions in the goat genome. Finally, most of the goat breeds analysed in this work display low levels of homozygosity, which is favourable for their genetic management and viability.

Background: Genetic isolation of breeds may result in a significant loss of diversity and have consequences on health and performance. In this study, we examined the effect of geographic isolation on caprine genetic diversity patterns by genotyping 480 individuals from 25 European and African breeds with the Goat SNP50 BeadChip and comparing patterns of homozygosity of insular and nearby continental breeds., Results: Among the breeds analysed, number and total length of ROH varied considerably and depending on breeds, ROH could cover a substantial fraction of the genome (up to 1.6 Gb in Icelandic goats). When compared with their continental counterparts, goats from Iceland, Madagascar, La Palma and Ireland (Bilberry and Arran) displayed a significant increase in ROH coverage, ROH number and F ROH values (P value < 0.05). Goats from Mediterranean islands represent a more complex case because certain populations displayed a significantly increased level of homozygosity (e.g. Girgentana) and others did not (e.g. Corse and Sarda). Correlations of number and total length of ROH for insular goat populations with the distance between islands and the nearest continental locations revealed an effect of extremely long distances on the patterns of homozygosity., Conclusions: These results indicate that the effects of insularization on the patterns of homozygosity are variable. Goats raised in Madagascar, Iceland, Ireland (Bilberry and Arran) and La Palma, show high levels of homozygosity, whereas those bred in Mediterranean islands display patterns of homozygosity that are similar to those found in continental populations. These results indicate that the diversity of insular goat populations is modulated by multiple factors such as geographic distribution, population size, demographic history, trading and breed management.

Background: Whether anticoagulants other than unfractionated heparin are able to suppress cardiac PET uptake of 2-deoxy-2-[18F]-fluoro-D-glucose (18F-FDG) is unknown., Methods: One-hundred-seventy-four patients without history and clinical evidence of cardiac dysfunction and/or coronary heart disease underwent a 18F-FDG PET/CT study. All patients were studied with a >12-hours fasting and divided into 2 groups: group-1 without anticoagulant therapy (n:75); group-2 patients on low molecular weight heparin (n:60) or warfarin therapy (n:39). Cardiac 18F-FDG uptake was estimated qualitatively using a 4-point scale and semiquantitatively as total LV glycolysis (LVG) and metabolic volume (MV), drawing isocontour volume of interest (VOI) including the whole LV., Results: Qualitatively, LV 18-FDG uptake was scored 0 or 1, indicating a good suppression, in 10/75 (13%) patients of group-1 and 77/99 (78%) of group-2 (p < .001). Semiquantitatively, patients of group-1 showed higher values of 18-FDG uptake than patients of group-2, assessed as LVG (802,649 ± 468,442 vs 198,989 ± 261,439, p < .0001) or MV (219 ± 77 vs 57 ± 48 cm 3 , p < .0001). Subanalysis for anticoagulant drugs showed similar results., Conclusions: Prolonged fasting combined to anticoagulants other than unfractionated heparin is able to minimize glucose cardiac metabolism. Our data confirm previous observation on the possibility to influence the metabolic pattern of the heart before the PET scan and broadens the spectrum of pharmacological options.

Background: Studies in experimental models and humans suggest that glucose‒6‒phosphate dehydrogenase (G6PD) deficiency, an inherited condition, may be inversely related to hepatocellular carcinoma (HCC). We tested this hypothesis in a large cohort of Sardinian patients. Methods: A case-control study was performed using data from 11,143 records of patients who underwent upper endoscopy between 2002 and 2017. Gender, age, G6PD status and information regarding the presence of HCC, were recorded. Cases (HCC positive) and controls (HCC negative) were compared for the presence of G6PD deficiency adjusting for major HCC risk factors using logistic regression. Results: Overall, 114 HCC cases and 11,029 controls were identified. G6PD deficiency was detected in 11.5% of study participants, and was associated with a reduced risk of HCC [odds ratio (OR); 0.451; 95% confidence interval (CI), 0.207−0.982] after adjusting for all covariates. Factors significantly associated with HCC were cirrhosis (OR, 23.30; 95% CI, 11.48−47.25), diabetes (OR, 2.396; 95% CI, 1.449−3.963), among infection hepatitis HBV with an OR of 2.326, age ≥65 years (OR, 1.941; 95% CI, 1.234−2.581) and male gender (OR, 1.611; 95% CI, 1.006−3.081). Conclusions: Our study revealed a significant inverse association between G6PD deficiency and risk of HCC. These findings need to be confirmed in further studies., (Creative Commons Attribution License)

Several short-term whole-organism bioassays based on transgenic aquatic models are now under validation by the OECD (Organization for Economic Co-operation and Development) to become standardized test guidelines for the evaluation of the endocrine activity of substances. Evaluation of the endocrine disrupting capacity of pesticides will be a domain of applicability of these future reference tests. The herbicide linuron and the insecticide fenoxycarb are two chemicals commonly used in agricultural practices. While numerous studies indicate that linuron is likely to be an endocrine disruptor, there is little information available on the effect of fenoxycarb on vertebrate endocrine systems. Using whole-organism bioassays based on transgenic Xenopus laevis tadpoles and medaka fry we assessed the potential of fenoxycarb and linuron to disrupt thyroid, androgen and estrogen signaling. In addition we used in silico approach to simulate the affinity of these two pesticides to human hormone receptors. Linuron elicited thyroid hormone-like activity in tadpoles at all concentrations tested and, showed an anti-estrogenic activity in medaka at concentrations 2.5mg/L and higher. Our experiments suggest that, in addition to its previously established anti-androgenic action, linuron exhibits thyroid hormone-like responses, as well as acting at the estrogen receptor level to inhibit estrogen signaling. Fenoxycarb on the other hand, did not cause any changes in thyroid, androgen or estrogen signaling at the concentrations tested., (Copyright © 2017 Elsevier Inc. All rights reserved.)

Objectives: To examine cancer trend using age-period-cohort analysis with a cohort of patients in Sardinia, Italy, where epidemiological transition occurred between 1950 and 1960., Methods: Poisson log-linear regression models were used to analyze time trend in patients undergoing upper endoscopy between 1995 and 2013., Results: A total of 10,546 clinical records (62.2% women) were retrieved. In 541 patients (5.1%), a diagnosis of cancer was reported, more often in men (5.5%) than in women (4.9%). Age and birth cohort were significantly associated with cancer rate according to age-period-cohort analysis (p < 0.0001), whereas the effect of time period was negligible (p = 0.875). An upward trend for all cancers was observed in the younger generations (7.15% before 1950, 8.85% between 1950 and 1960, and 10.7% after 1960)., Conclusions: Population aging and increased exposure to cancer risk factors after epidemiological transition were the major determinants associated with cancer in this Sardinian cohort, whereas time period had no effect, ruling out any variation in diagnostic accuracy. These results may facilitate the provision of preventive measures by the health care system, and improve population-tailored cancer screening strategies.

Introduction: The prevalence of H. pylori infection is high in underdeveloped countries and is associated with growth retardation. In the first half of the 20th century, Sardinia was an underdeveloped region; however, more recent development resulted in a decline in H. pylori infection. Because body height is correlated with health and nutritional status in childhood, the association among H. pylori infection and height was explored., Materials and Methods: A retrospective observational study was conducted involving patients undergoing endoscopy for dyspepsia from 2002 to 2012. H. pylori status was assessed by histology plus the rapid urease test or 13Carbon-urea breath test., Results: Body height and H. pylori status were assessed in 5045 adult patients: 3257 (64.6%) were women. Patients born after 1950 showed a significant increase in height (average 3.22 cm) compared to patients born before 1950 (163.93 vs 160 cm; 95% confidence interval, CI = 2.74-3.70 cm) (p < .0001). H. pylori-infected patients were nearly 1 cm shorter than uninfected patients (95% CI = -1.35 to·-0.09 cm) (p = .012). The multivariate linear regression analysis showed male gender, birth cohort, and occupational categories to be strongly associated with height, while the weak effect of H. pylori infection disappeared., Conclusions: Our results demonstrate a strong secular trend related to body height in Sardinia with a minimal influence of H. pylori infection., (© 2016 John Wiley & Sons Ltd.)

Glucose-6-phosphate dehydrogenase (G6PD) deficiency has been associated with a lower cancer risk, possibly via a reduction of mutagenic oxygen-free radicals and by reducing nicotinamide-adeninedinucleotide-phosphate for replicating cells. In Sardinia, the enzyme defect is frequent as a consequence of selection by malaria in the past. This study investigated the relationship between G6PD deficiency and colorectal cancer (CRC).A retrospective case-control study of 3901 patients from Sardinia, who underwent a colonoscopy between 2006 and 2016, was performed. G6PD phenotype was assessed for each subject. The proportion of pre and malignant colorectal lesions was compared in cases (G6PD-deficient) and controls (G6PD-normal). Data concerning age, sex, family history of CRC, smoking habits, body height, and weight, and also associated diseases were collected.The CRC risk reduction was 43.2% among G6PD-deficient compared with G6PD-normal subjects (odds ratio 0.57, 95% confidence interval 0.37-0.87, P = 0.010). Age, sex, family history of CRC, and also comorbidities such as type 1 diabetes and ischemic heart disease, were significantly associated with CRC risk. The protective effect of G6PD deficiency remained significant after adjusting for all covariates by logistic regression analysis, and was consistently lower across all age groups.Glucose-6-phosphate dehydrogenase enzyme deficiency is associated with a reduced risk of CRC.

Objective: Gastroesophageal reflux disease (GERD) and esophageal adenocarcinoma have been increasing. We studied the relationship of conventional risk factors and Helicobacter pylori infection in patients with erosive and non-erosive GERD and Barrett's esophagus., Materials and Methods: This was a retrospective study of dyspeptic patients undergoing upper endoscopy between 2002 and 2013. Following endoscopy, those with previously undiagnosed GERD were sub-grouped into non-erosive GERD (NERD), erosive GERD (eGERD), or Barrett's esophagus. H. pylori status was confirmed by 2 positive tests., Results: About 5156 patients were included, GERD was present in 65.6% including 1992 with NERD and 1392 with eGERD. About 1772 dyspeptic patients without symptoms of reflux and/or esophagitis served as controls. A hiatal hernia increased the risk of both eGERD and NERD. eGERD was more prevalent among the obese (OR =1.72, p < 0.001), men (OR =1.38, p < 0.001) and current smokers. Helicobacter pylori infection was significantly more common among those with NERD (OR =1.17 versus 1.01, p = 0.046). Logistic regression analysis for eGERD and NERD using age, gender, body mass index, H. pylori infection, hiatal hernia, and smoking showed that overweight and hiatal hernia were significant risk factors for eGERD, and female gender for NERD. Male gender, eGERD and age >50 years were the major risk factors for Barrett's esophagus., Conclusions: The epidemiology of eGERD and NERD suggests differences in pathogenesis, and prevention and treatment strategies should be separately examined in men and women.

Background: Cattle include a large number of breeds that are characterized by marked phenotypic differences and thus constitute a valuable model to study genome evolution in response to processes such as selection and domestication. Detection of "signatures of selection" is a useful approach to study the evolutionary pressures experienced throughout history. In the present study, signatures of selection were investigated in five cattle breeds farmed in Italy using a multivariate approach., Methods: A total of 4094 bulls from five breeds with different production aptitudes (two dairy breeds: Italian Holstein and Italian Brown Swiss; two beef breeds: Piemontese and Marchigiana; and one dual purpose breed: Italian Simmental) were genotyped using the Illumina BovineSNP50 v.1 beadchip. Canonical discriminant analysis was carried out on the matrix of single nucleotide polymorphisms (SNP) genotyping data, separately for each chromosome. Scores for each canonical variable were calculated and then plotted in the canonical space to quantify the distance between breeds. SNPs for which the correlation with the canonical variable was in the 99th percentile for a specific chromosome were considered to be significantly associated with that variable. Results were compared with those obtained using an FST-based approach., Results: Based on the results of the canonical discriminant analysis, a large number of signatures of selection were detected, among which several had strong signals in genomic regions that harbour genes known to have an impact on production and morphological bovine traits, including MSTN, LCT, GHR, SCD, NCAPG, KIT, and ASIP. Moreover, new putative candidate genes were identified, such as GCK, B3GALNT1, MGAT1, GALNTL1, PRNP, and PRND. Similar results were obtained with the FST-based approach., Conclusions: The use of canonical discriminant analysis on 50 K SNP genotypes allowed the extraction of new variables that maximize the separation between breeds. This approach is quite straightforward, it can compare more than two groups simultaneously, and relative distances between breeds can be visualized. The genes that were highlighted in the canonical discriminant analysis were in concordance with those obtained using the FST index.

Background: Subjects with glucose-6-phosphate dehydrogenase (G6PD) deficiency may be more susceptible to infections due to impaired leukocyte bactericidal activity. The disorder is common in the Mediterranean area. The aim of this study was to investigate whether G6PD deficiency may be a risk factor for acquiring H. pylori infection., Methods: We performed a retrospective study. Data from clinical records of 6565 patients (2278 men and 4287 women, median age 51, range 7‒94) who underwent upper endoscopy between 2002 and 2014 were collected. H. pylori status, assessed by histology plus rapid urease test or 13C-urea breath test, and G6PD status were also reported. A multiple logistic regression model was used to investigate the association between G6PD deficiency and H. pylori infection., Results: Enzyme deficiency was detected in 12% (789/6565) of the entire cohort, and more specifically in 8.3% of men and in 14.0% of women. Overall, the proportion of patients positive for H. pylori was 50.6% and 51.5% among G6PD deficient and non-deficient patients (χ² = 0.271; p = 0.315). Moreover, among G6PD-deficient and normal patients the frequency of previous H. pylori infection was similar. After adjustment for age and gender the risk for acquiring H. pylori infection was similar in G6PD-deficient and normal patients. Only age was a strong statistically significant risk predictor., Conclusions: These results demonstrate for the first time that G6PD deficiency does not enhance patients' susceptibility to acquire H. pylori infection in Sardinia.

One of the main advantages of single nucleotide polymorphism (SNP) array technology is providing genotype calls for a specific number of SNP markers at a relatively low cost. Since its first application in animal genetics, the number of available SNP arrays for each species has been constantly increasing. However, conversely to that observed in whole genome sequence data analysis, SNP array data does not have a common set of file formats or coding conventions for allele calling. Therefore, the standardization and integration of SNP array data from multiple sources have become an obstacle, especially for users with basic or no programming skills. Here, we describe the difficulties related to handling SNP array data, focusing on file formats, SNP allele coding, and mapping. We also present SNPConvert suite, a multi-platform, open-source, and user-friendly set of tools to overcome these issues. This tool, which can be integrated with open-source and open-access tools already available, is a first step towards an integrated system to standardize and integrate any type of raw SNP array data. The tool is available at: https://github. com/nicolazzie/SNPConvert.git.

Over the past 50 years, the prevalence of Helicobacter pylori infection has fallen as standards of living improved. The changes in the prevalence of infection and its manifestations (peptic ulcer disease and gastric mucosal lesions) were investigated in a large cohort of Sardinians undergoing upper endoscopy for dyspepsia. A retrospective observational study was conducted involving patients undergoing endoscopy for dyspepsia from 1995 to 2013. H. pylori status was assessed by histology plus the rapid urease test or 13C-UBT. Gastric mucosal lesions were evaluated histologically. Data including non-steroidal anti-inflammatory drugs (NSAIDs) use and the presence of peptic ulcers were collected. The prevalence of H. pylori was calculated for each quartile and for each birth cohort from 1910 to 2000. 11,202 records were retrieved for the analysis (62.9% women). The overall prevalence of H. pylori infection was 43.8% (M: 46.6% vs. F: 42.0%; P = 0.0001). A dramatic decrease in the prevalence of infection occurred over the 19-year observation period. The birth cohort effect was evident in each category (quartile) reflecting the continuous decline in H. pylori acquisition. Over time, the prevalence of peptic ulcers also declined, resulting in an increase in the proportion of H. pylori negative/NSAID positive and H. pylori negative/NSAID negative peptic ulcers. The prevalence of gastric mucosal changes also declined despite aging. The decline in H. pylori prevalence over time likely reflects the improvement in socioeconomic conditions in Sardinia such that H. pylori infection and its clinical outcomes including peptic ulcer are becoming less frequent even among dyspeptic patients.

Background: Domestication and selection are processes that alter the pattern of within- and between-population genetic variability. They can be investigated at the genomic level by tracing the so-called selection signatures. Recently, sequence polymorphisms at the genome-wide level have been investigated in a wide range of animals. A common approach to detect selection signatures is to compare breeds that have been selected for different breeding goals (i.e. dairy and beef cattle). However, genetic variations in different breeds with similar production aptitudes and similar phenotypes can be related to differences in their selection history., Methods: In this study, we investigated selection signatures between two Italian beef cattle breeds, Piemontese and Marchigiana, using genotyping data that was obtained with the Illumina BovineSNP50 BeadChip. The comparison was based on the fixation index (Fst), combined with a locally weighted scatterplot smoothing (LOWESS) regression and a control chart approach. In addition, analyses of Fst were carried out to confirm candidate genes. In particular, data were processed using the varLD method, which compares the regional variation of linkage disequilibrium between populations., Results: Genome scans confirmed the presence of selective sweeps in the genomic regions that harbour candidate genes that are known to affect productive traits in cattle such as DGAT1, ABCG2, CAPN3, MSTN and FTO. In addition, several new putative candidate genes (for example ALAS1, ABCB8, ACADS and SOD1) were detected., Conclusions: This study provided evidence on the different selection histories of two cattle breeds and the usefulness of genomic scans to detect selective sweeps even in cattle breeds that are bred for similar production aptitudes.

Increased inbreeding is an inevitable consequence of selection in livestock populations. The analysis of high-density single nucleotide polymorphisms (SNPs) facilitates the identification of long and uninterrupted runs of homozygosity (ROH) that can be used to identify chromosomal regions that are identical by descent. In this work, the distribution of ROH of different lengths in five Italian cattle breeds is described. A total of 4095 bulls from five cattle breeds (2093 Italian Holstein, 749 Italian Brown, 364 Piedmontese, 410 Marchigiana and 479 Italian Simmental) were genotyped at 54K SNP loci. ROH were identified and used to estimate molecular inbreeding coefficients (FROH ), which were compared with inbreeding coefficients estimated from pedigree information (FPED ) and using the genomic relationship matrix (FGRM ). The average number of ROH per animal ranged from 54 ± 7.2 in Piedmontese to 94.6 ± 11.6 in Italian Brown. The highest number of short ROH (related to ancient consanguinity) was found in Piedmontese, followed by Simmental. The Italian Brown and Holstein had a higher proportion of longer ROH distributed across the whole genome, revealing recent inbreeding. The FPED were moderately correlated with FROH > 1 Mb (0.662, 0.700 and 0.669 in Italian Brown, Italian Holstein and Italian Simmental respectively) but poorly correlated with FGRM (0.134, 0.128 and 0.448 for Italian Brown, Italian Holstein and Italian Simmental respectively). The inclusion of ROH > 8 Mb in the inbreeding calculation improved the correlation of FROH with FPED and FGRM . ROH are a direct measure of autozygosity at the DNA level and can overcome approximations and errors resulting from incomplete pedigree data. In populations with high linkage disequilibrium (LD) and recent inbreeding (e.g. Italian Holstein and Italian Brown), a medium-density marker panel, such as the one used here, may provide a good estimate of inbreeding. However, in populations with low LD and ancient inbreeding, marker density would have to be increased to identify short ROH that are identical by descent more precisely., (© 2014 Stichting International Foundation for Animal Genetics.)

Aims: To evaluate the relationships between measures of left ventricular (LV) filling dynamics at cadmium-zinc-telluride (CZT) imaging and indexes of LV diastolic function at transthoracic echocardiography., Methods and Results: Two hundred and forty-seven patients underwent myocardial perfusion imaging at rest and after stress with a low-dose CZT protocol and a baseline transthoracic echocardiography study. All patients were submitted to invasive or computed coronary angiography. The peak filling rate (PFR) and the time to PFR (TPFR) were derived from gated CZT images as measures of LV filling dynamics. LV diastolic function was also evaluated at echocardiography and the presence of significantly increased LV filling pressures determined. Increased LV filling pressures at transthoracic echocardiography were evident in 103 (42%) patients. Interestingly, independently from the presence of coronary artery disease, there was a strict correlation between the presence and severity of LV diastolic dysfunction at echocardiography and CZT-derived measures of filling dynamics, i.e., PFR (P = 0.001) and TPFR (P = 0.001). At receiving operating characteristic analysis, a composite index of reduced PFR (≤2.11 end-diastolic volume s(-1)) and increased TPFR (>234 ms) showed a sensitivity of 84% and a specificity of 67% in unmasking the presence of elevated LV filling pressures at echocardiography., Conclusions: CZT-derived measures of LV filling dynamics correlate with echocardiographic parameters of diastolic function and may identify the presence of increased LV filling pressures., (Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2014. For permissions please email: journals.permissions@oup.com.)

Selection is the major force affecting local levels of genetic variation in species. The availability of dense marker maps offers new opportunities for a detailed understanding of genetic diversity distribution across the animal genome. Over the last 50 years, cattle breeds have been subjected to intense artificial selection. Consequently, regions controlling traits of economic importance are expected to exhibit selection signatures. The fixation index (Fst ) is an estimate of population differentiation, based on genetic polymorphism data, and it is calculated using the relationship between inbreeding and heterozygosity. In the present study, locally weighted scatterplot smoothing (LOWESS) regression and a control chart approach were used to investigate selection signatures in two cattle breeds with different production aptitudes (dairy and beef). Fst was calculated for 42 514 SNP marker loci distributed across the genome in 749 Italian Brown and 364 Piedmontese bulls. The statistical significance of Fst values was assessed using a control chart. The LOWESS technique was efficient in removing noise from the raw data and was able to highlight selection signatures in chromosomes known to harbour genes affecting dairy and beef traits. Examples include the peaks detected for BTA2 in the region where the myostatin gene is located and for BTA6 in the region harbouring the ABCG2 locus. Moreover, several loci not previously reported in cattle studies were detected., (© 2013 The Authors, Animal Genetics © 2013 Stichting International Foundation for Animal Genetics.)

Purpose: CZT technology allows ultrafast low-dose myocardial scintigraphy but its accuracy in assessing left ventricular function is still to be defined., Methods: The study group comprised 55 patients (23 women, mean age 63 ± 9 years) referred for myocardial perfusion scintigraphy. The patients were studied at rest using a CZT camera (Discovery NM530c; GE Healthcare) and a low-dose (99m)Tc-tetrofosmin clinical protocol (mean dose 264 ± 38 MBq). Gated SPECT imaging was performed as a 6-min list-mode acquisition, 15 min after radiotracer injection. Images were reformatted (8-frame to 16-frame) using Lister software on a Xeleris workstation (GE Healthcare) and then reconstructed with a dedicated iterative algorithm. Analysis was performed using Quantitative Gated SPECT (QGS) software. Within 2 weeks patients underwent cardiac magnetic resonance imaging (cMRI, 1.5-T unit CVi; GE Healthcare) using a 30-frame acquisition protocol and dedicated software for analysis (MASS 6.1; Medis)., Results: The ventricular volumes obtained with 8-frame QGS showed excellent correlations with the cMRI volumes (end-diastolic volume (EDV), r = 0.90; end-systolic volume (ESV), r = 0.94; p < 0.001). However, QGS significantly underestimated the ventricular volumes (mean differences: EDV, -39.5 ± 29 mL; ESV, -15.4 ± 22 mL; p < 0.001). Similarly, the ventricular volumes obtained with 16-frame QGS showed an excellent correlations with the cMRI volumes (EDV, r = 0.92; ESV, r = 0.95; p < 0.001) but with significant underestimations (mean differences: EDV, -33.2 ± 26 mL; ESV, -17.9 ± 20 mL; p < 0.001). Despite significantly lower values (47.9 ± 16 % vs. 51.2 ± 15 %, p < 0.008), 8-frame QGS mean ejection fraction (EF) was closely correlated with the cMRI values (r = 0.84, p < 0.001). The mean EF with 16-frame QGS showed the best correlation with the cMRI values (r = 0.91, p < 0.001) and was similar to the mean cMRI value (49.6 ± 16 %, p not significant). Regional analysis showed a good correlation between both 8-frame and 16-frame QGS and cMRI wall motion score indexes (8-frame WMSI, r = 0.85; 16-frame WMSI, r = 0.89; p < 0.01)., Conclusion: Low-dose gated SPECT with a CZT camera provides ventricular volumes that correlate well with cMRI results despite significant underestimation in the measure values. EF estimation appeared to be more accurate with 16-frame reformatted images than with 8-frame images.

Background: The objective of the present study was to test the ability of the partial least squares regression technique to impute genotypes from low density single nucleotide polymorphisms (SNP) panels i.e. 3K or 7K to a high density panel with 50K SNP. No pedigree information was used., Methods: Data consisted of 2093 Holstein, 749 Brown Swiss and 479 Simmental bulls genotyped with the Illumina 50K Beadchip. First, a single-breed approach was applied by using only data from Holstein animals. Then, to enlarge the training population, data from the three breeds were combined and a multi-breed analysis was performed. Accuracies of genotypes imputed using the partial least squares regression method were compared with those obtained by using the Beagle software. The impact of genotype imputation on breeding value prediction was evaluated for milk yield, fat content and protein content., Results: In the single-breed approach, the accuracy of imputation using partial least squares regression was around 90 and 94% for the 3K and 7K platforms, respectively; corresponding accuracies obtained with Beagle were around 85% and 90%. Moreover, computing time required by the partial least squares regression method was on average around 10 times lower than computing time required by Beagle. Using the partial least squares regression method in the multi-breed resulted in lower imputation accuracies than using single-breed data. The impact of the SNP-genotype imputation on the accuracy of direct genomic breeding values was small. The correlation between estimates of genetic merit obtained by using imputed versus actual genotypes was around 0.96 for the 7K chip., Conclusions: Results of the present work suggested that the partial least squares regression imputation method could be useful to impute SNP genotypes when pedigree information is not available.

In the crystal structure of the title compound, C8F16I2·C14H8N2, the mol-ecules form infinite chains parallel to [2-11] through two symmetry-independent C-I⋯N halogen bonds (XBs). As commonly found, the perfluoro-alkyl mol-ecules segregate from the hydro-carbon ones, forming a layered structure. Apart from the XBs, the only contact below the sum of van der Waals radii is a weak H⋯F contact. The topology of the network is a nice example of the paradigm of the expansion of ditopic starting modules; the XB leads to the construction of infinite supramolecular chains along [2-11] formed by alternating XB donors and acceptors.

The serotonin receptor 5-HT2B has been shown to be critically important during embryogenesis as the knockout of this gene in mice causes heart defects and embryonic lethality that impairs further analyses on other embryonic cell and tissue types. In the present review, we highlight how the use of Xenopus laevis, an alternative vertebrate model suitable for gene loss and gain of function analyses, has contributed to our understanding of the role of 5-HT2B signaling during development. In vivo studies showed that 5-HT2B signaling is not only required for heart development, but that it also has a crucial role in ocular and craniofacial morphogenesis, being involved in shaping the first branchial arch and the jaw joint, in retinogenesis and possibly in periocular mesenchyme development. These findings may be relevant for our understanding of congenital defects including human birth malformations. In addition, 5-HT2B appears to be required for the therapeutic actions of selective serotonin reuptake inhibitors commonly prescribed as antidepressant drugs to pregnant and lactating women. We discuss how the understanding of the molecular basis of serotonin signaling in a suitable animal embryogenesis model may open new lines of investigations and therapies in humans.

Background: Implantation procedures for cardiac resynchronization therapy (CRT) remain challenging with regard to coronary sinus (CS) cannulation and left ventricular (LV) lead positioning. Technologic advances in catheter design may facilitate CS cannulation and LV lead placement., Aims: To evaluate two different telescoping dual-catheter systems, RAPIDO Guiding Catheter System (Group R) and RAPIDO ADVANCE Guiding Catheter System (Group A) (Guidant Inc., St. Paul, MN, USA), during implantation of a CRT device., Methods: Seventy-four consecutive patients randomly received a CRT device using the R or A system., Results: An LV lead was successfully implanted in 74 patients (100%). (1) Median times for CS cannulation in groups R and A were 0.3 minutes (range from 0.05 to 14 minutes) and 0.5 minutes (range from 0.05 to 9 minutes), respectively (P = NS). (2) Median times for LV lead placement were 8 minutes (range from 0.8 to 100 minutes) and 3.5 minutes (range from 0.25 to 30 minutes), respectively, for groups R and A (P = 0.032). (3) Median total fluoroscopy times were 12.33 minutes (range from 5 to 70 minutes) and 14.33 minutes (range from 6 to 53 minutes) for groups R and A, respectively (P = NS). (4) Median procedural times for CRT implantation were 80 minutes (range from 40 to 200 minutes) and 75 minutes (range from 45 to 180 minutes) (P = NS) in groups R and A, respectively. There were no major complications., Conclusion: CS cannulation and LV lead placement with a telescopic dual-catheter system is a safe and feasible approach that may reduce fluoroscopy and overall CRT implantation times. Our observations suggest that the RAPIDO ADVANCE System is faster than the RAPIDO System in terms of median time for LV lead positioning.

The Occupational Safety and Health Administration (OSHA) has proposed a reduction in the permissible exposure limit for methylene chloride from 500 parts per million (ppm) to 25 ppm (8-hour time-weighted average [TWA]). Part of the rationale for lowering the standard is a concern over potentially adverse cardiac effects secondary to elevated carboxyhemoglobin (COHb) levels as a by-product of methylene chloride metabolism. Employees exposed to methylene chloride as part of a triacetate fiber production process had average values of COHb ranging between 1.77% and 4.00% in the nonsmoking group and between 4.95% and 6.35% in a smoking group, with individually measured methylene chloride exposures averaging up to 99 ppm (8-hour TWA). A dose-response effect was seen only in the nonsmoking group. Additional daily cumulative exposure to methylene chloride did not produce increased levels of COHb. Data from this study support the fact that the COHb levels resulting from exposure to methylene chloride at or below the current American College of Government Industrial Hygienists limit of 50 ppm (8-hour TWA) are of a sufficiently low level that they are unlikely to produce adverse cardiac effects in humans.

Serum thyroglobulin (Tg) levels were elevated in 92% of 38 patients with subacute "painful" thyroiditis in the early stage, independent of the extent of the disease and thyroid hormone concentrations. After two months of corticosteroid treatment, serum Tg levels were significantly decreased in 25 patients who could be rechecked, compared with the levels in the acute phase, although higher than those in our normal control subjects. Twelve of 25 patients underwent sequential measurements of Tg for three to four months, during the disease and after recovery. In ten the initially elevated values decreased rapidly to normal and were maintained for approximately 20 days. Then they rose gradually, peaked about 60 days after disease onset, then returned slowly and permanently to normal. In one patient who had a clinical relapse during the plateau phase, the Tg level also increased markedly and abruptly. Therefore, serial measurements of serum Tg can help in diagnosing and monitoring subacute "painful" thyroiditis.