Genetic analysis of maximum cigarette-use phenotypes

BACKGROUND: Using the Framingham Heart Study data set provided for Genetic Analysis Workshop 13, we defined the cigarette-use phenotype M for smokers to be the maximum number of cigarettes-per-day (MAXCIG) reported over the longitudinal course of the study. Adjustments were made for the significant covariates of gender and year of birth, and sib-pair based linkage analysis was performed. RESULTS: The primary analyses, in which individuals with MAXCIG = 0 were considered to have missing phenotype, resulted in modest linkage evidence, with LOD scores over 1 on chromosomes 5, 9, 13, 14, and 22. CONCLUSIONS: While the results reported here do not indicate definitive evidence for linkage to specific chromosomal regions, future studies may find it useful to include direct assessments of maximum and quantitative cigarette use. In defining and analyzing quantitative or "maximum use" phenotypes, the choice of how to handle individuals with MAXCIG = 0, or alternatively, individuals who are substance-naive, is a crucial one for genetic studies of nicotine and other substance use. In this study, the linkage results vary greatly depending on whether or not these "unexposed" individuals are included in the analyses

Genetic analysis of the maximum drinks phenotype

Using data provided by the Collaborative Study on the Genetics of Alcoholism we studied the genetics of a quantitative trait: the maximum number of drinks consumed in a 24-hour period. A two-stage method was used. First, linkage analysis was performed, followed by association analysis in regions where linkage was detected. Additionally, the extent of linkage disequilibrium among single-nucleotide polymorphisms (SNP) associated with the phenotype was assessed. Linkage to chromosomes 2 and 7 was detected, and follow-up association analysis found multiple trait-associated SNPs in the chromosome 7 linkage region. Chromosome 4, which has been implicated in previous studies of the maximum drinks phenotype, did not pass our threshold for linkage evidence in stage 1, but secondary analyses of this chromosome indicated modest evidence for both linkage and association. The evidence suggests that chromosome 7 may harbor an additional locus influencing the maximum drinks consumption phenotype

Contraceptive use and sexual function: a comparison of Italian female medical students and women attending family planning services

Objectives: The aims of the study were to understand how education relates to contraceptive choice and how sexual function can vary in relation to the use of a contraceptive method. Methods: We surveyed female medical students and women attending a family planning service (FPS) in Italy. Participants completed an online questionnaire which asked for information on sociodemographics, lifestyle, sexuality and contraceptive use and also included items of the Female Sexual Function Index (FSFI). Results: The questionnaire was completed by 413 women (362 students and 51 women attending the FPS) between the ages of 18 and 30 years. FSFI scores revealed a lower risk of sexual dysfunction among women in the control group who did not use oral hormonal contraception. The differences in FSFI total scores between the two study groups, when subdivided by the primary contraceptive method used, was statistically significant (p < 0.005). Women using the vaginal ring had the lowest risk of sexual dysfunction, compared with all other women, and had a positive sexual function profile. In particular, the highest FSFI domain scores were lubrication, orgasm and satisfaction, also among the control group. Expensive contraception, such as long-acting reversible contraception, was not preferred by this young population, even though such methods are more contemporary and manageable. Compared with controls, students had lower compliance with contraception and a negative attitude towards voluntary termination of pregnancy. Conclusion: Despite their scientific knowledge, Italian female medical students were found to need sexual and contraceptive assistance. A woman's sexual function responds to her awareness of her body and varies in relation to how she is guided in her contraceptive choice. Contraceptive counselling is an excellent means to improve female sexuality

Intrahepatic persistent fetal right umbilical vein: a retrospective study

Introduction: To appraise the incidence and value of intrahepatic persistent right umbilical vein (PRUV). Methods: This was a single-center study. Records of all women with a prenatal diagnosis of intrahepatic PRUV were reviewed. The inclusion criteria were women with gestational age greater than 13 weeks of gestation. Exclusion criteria were fetuses with situs abnormalities, due to the hepatic venous ambiguity, and extrahepatic PRUV. The primary outcome was the incidence of intrahepatic PRUV in our cohort. The secondary outcomes were associated malformations. Results: 219/57,079 cases (0.38%) of intrahepatic PRUV were recorded. The mean gestational age at diagnosis was 21.8 ± 2.9 weeks of gestations. PRUV was isolated in the 76.7%, while in 23.3% was associated with other major or minor abnormalities. The most common associated abnormalities were cardiovascular abnormalities (8.7%), followed by genitourinary abnormalities (6.4%), skeletal abnormalities (4.6%), and central nervous system abnormalities (4.1%). Within the cardiovascular abnormalities, the most common one was ventricular septal defect (six cases). Conclusion: In most cases PRUV is an isolated finding. Associated minor or major malformations are presented in the 23.3% of the cases, so this finding should prompt detailed prenatal assessment of the fetus, with particular regard to cardiovascular system

characterization and manufacturing of a paraffin wax as fuel for hybrid rockets

The hybrid propulsion performed with paraffin waxes exhibits most attractive capabilities compared to solid or liquid engines, e.g., throttleability and re-ignition, alongside higher regression rates compared to the conventional hydroxyl terminated polybutadiene (HTPB) hybrid fuel. This is because the paraffin wax forms a thin and hydro-dynamically unstable liquid layer, and then enhances the regression rate with the entrainment of droplets from the liquid-gas interface. Nevertheless, some critical open points on the manufacturing of the paraffin fuel grains still persist, because the paraffin wax exhibits high shrinkage during the solidification phase, leading to the formation of cavities, cracks and internal rips, which may be detrimental to the mechanical properties and the structural integrity of the fuel grain. In this context, this paper deals with a wide calorimetric, thermo-mechanical and physical characterization of the paraffin wax selected to manufacture the hybrid rocket engines (HRE) fuel grain, in order to gain a thorough knowledge of the material necessary to avoid the formation of critical defects. Several manufacturing methods were investigated, and it was found that only laboratory scale processes, based on the use of a heated circular mould-piston apparatus, are able to avoid the formation of critical defects, with the application of both high temperature and pressure. Keywords: Paraffin wax, Hybrid rockets, Manufacturing, SASOL® 0907, Regression rat