Novel genomic markers and genes related to reproduction in prolific Chios dairy sheep: a genome-wide association study.

Genetic architecture of sheep reproduction is increasingly gaining scientific interest due to the major impact on sheep production systems. In the present study, we conducted pedigree-based analyses and genome-wide association studies using the Illumina Ovine SNP50K BeadChip to explore the genetic mechanisms underlying the reproduction of the highly prolific Chios dairy sheep. First lambing age, total prolificacy and maternal lamb survival were selected as representative reproductive traits and estimated as significantly heritable (h2 = 0.07-0.21) with no evident genetic antagonism among traits. We identified novel genome-wide and suggestive significant single-nucleotide polymorphisms (SNPs) on chromosomes 2 and 12 associated with age at first lambing. The new variants detected on chromosome 2 span a region of 357.79 kb with high pairwise linkage disequilibrium estimates (r2 = 0.8-0.9). Functional annotation analysis revealed candidate genes, such as the collagen-type genes and the Myostatin gene, that participate in osteogenesis, myogenesis, skeletal and muscle mass development resembling the functionality of major genes affecting the ovulation rate and prolificacy. Additional functional enrichment analysis associated the collagen-type genes with multiple uterine-related disfunctions, such as cervical insufficiency, uterine prolapse and abnormalities of the uterine cervix. Several genes (e.g., KAZN, PRDM2, PDPN, LRRC28) localised close to the SNP marker on chromosome 12 were grouped in annotation enrichment clusters majorly involved in developmental and biosynthetic pathways, apoptosis, and nucleic acid-templated transcription. Our findings may further contribute to unravel the genomic regions that are important for sheep reproduction and could be incorporated into future selective breeding programmes.

Differences in arterial stiffness and target organ damage between native Greek patients and immigrants from Eastern European countries with essential hypertension.

AIM: The variance in hypertension-related sequelae between different ethnic groups is highly related to differences in socioeconomic conditions and lifestyle habits, but also to disparities in the awareness and treatment of the disease. In the present study, we sought to evaluate the target organ damage in a vulnerable hypertensive population, such as the Eastern European immigrants. METHODS: The study population consisted of 128 hypertensive patients: 67 immigrants from Eastern Europe and 61 native inhabitants. Anthropometric, biochemical and echocardiographic data were derived from both groups. Both groups underwent fundoscopic examination and pulse wave velocity (PWV) measurements for assessment of arterial stiffness. RESULTS: Although immigrants had lower body mass index compared to native inhabitants (P<0.001), they had significantly increased arterial stiffness (P=0.003). In multivariate analysis, higher carotid-femoral PWV was significantly associated with immigration status [ß (SE)=0.935(0.443), P=0.041], after adjustment for smoking status. Moreover, immigrants had increased left atrial volume index (LAVI) (P<0.001), left ventricular mass index (P<0.001) and higher rates of left ventricular diastolic dysfunction (p=0.047). In multivariate analysis, LAVI was significantly associated with immigration status (ß (SE)=5.17(1.93), P=0.01) after adjustment for serum glucose levels and age. Finally, immigrants had significantly higher levels of sodium urinary excretion (p=0.007) and lower glomerular filtration rate (P<0.001). CONCLUSION: Our findings suggest that hypertensive immigrants exhibit an aggravated arterial stiffness profile and increased risk of target organ damage. These findings could be attributed to differences in socioeconomic conditions and dietary habits.

Left main coronary artery aneurysm.

Left main coronary artery aneurysms (LMCA) are usually asymptomatic and are rarely encountered during coronary angiography. The most serious complications include coronary thrombosis, acute myocardial infarction and sudden death. Atherosclerosis is the most common cause, although several autoimmune diseases and congenital abnormalities have been associated with the presence of coronary aneurysms. The case of a symptom-free 63-year-old man with a giant LMCA and severely ectatic coronary arteries is presented.

Heterozygote men with familial hypercholesterolaemia may have an abnormal triglyceride response post-prandially. Evidence for another predictor of vascular risk in familial hypercholesterolaemia.

Familial hypercholesterolaemia (FH) is associated with premature coronary heart disease (CHD). Post-prandial hypertriglyceridaemia has also been associated with cardiovascular disease. Thus, an abnormal post-prandial triglyceride (TG) clearance may contribute to the heterogeneity in the risk of CHD in heterozygous (h) FH. Therefore, we investigated the response of TG levels to a fatty meal in men with hFH. We studied 26 Greek men divided into two groups: the hFH group of 14 men, mean age 39 (SD = 11) years and the control group of 12 healthy men, mean age 43 (50:5) years. An increased TG response to the fatty meal was defined as a post-prandial TG concentration (at 4, 6 or 8 h) greater than the highest TG concentration in any hour in any control individual. All hFH patients had normal baseline fasting TG levels. However, seven hFH men showed an abnormal TG response after the fatty meal; these patients had higher baseline fasting TG levels than others [1.5 (0.2) vs. 1.0 (0.4) mmol/l, p = 0.005]. The hFH men constituted a heterogeneous group regarding their TG response to the fatty meal compared with healthy men because 50% with higher, but nevertheless 'normal' basal TG levels, had an abnormal post-prandial TG response. The reduced activity of low-density lipoprotein receptors in hFH together with other defects in TG handling may explain the abnormal rise of TG levels post-prandially.

Mental symptoms, hostility features and stressful life events in people with cancer.

Hostility features, mental symptoms, and stressful life events were investigated in 100 patients (59 men and 41 women) suffering from cancer. Fifty-seven healthy men (n = 26) and women (n = 31) were used for comparison purposes. The assessment instruments were the Hostility and Direction of Hostility Questionnaire, the Delusions Symptoms States Inventory/states of anxiety and depression and a modified version of the Schedule of Life Experiences. Women patients reported lower scores than healthy women on total hostility, but men patients reported higher scores than healthy men. Introverted hostility was increased in both male and female patients, but due to different patterns: in women due to lower scores on extroverted hostility subscales, especially acting-out hostility, whereas in men due to higher scores on introverted hostility subscales, especially guilt. Female patients, compared with healthy women, reported significantly higher scores on the depressive and anxiety subscales, whereas in the man the differences were not statistically significant even though patients reported higher scores than normals. On the Schedule of Life Experiences, female patients reported statistically significant higher scores than healthy women.

Serum tumor markers in non-Hodgkin's lymphomas and chronic lymphocytic leukemia.

The levels of soluble interleukin-2 receptors (sIL-2R), beta-2 microglobulin (beta-2M), erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) were measured in the serum of 50 previously untreated patients with non-Hodgkin's lymphoma (NHL) and chronic lymphocytic leukemia (CLL) as well as in 25 age and sex-matched normal controls. Compared to normal controls, mean serum levels of sIL-2R and beta-2M were significantly increased in both NHL and CLL (p < 0.001) while the increase in ESR and CRP was less marked (p < 0.01 and p < 0.05, respectively). Comparison of these tumor markers with histologic grading showed statistically significant differences only for CRP between low, intermediate and high-grade lymphomas (p < 0.001 and p < 0.05). More advanced stages exhibited higher mean values of all serum markers than early stages (p < 0.001 for sIL-2R, beta-2M and ESR and p < 0.05 for CRP). An association with the presence of b-symptoms was observed only for sIL-2R (p < 0.05). In addition, sIL-2R as well as beta-2M were able to predict time to progression in patients with diffuse large-cell lymphomas. We conclude that of the four tumor markers tested sIL-2R and beta-2M more frequently showed increased serum levels and were associated with clinical stage and/or presence of b-symptoms. Both sIL-2R and beta-2M were also found to have prognostic significance for survival.