Purifying selection and birth-and-death evolution in the ubiquitin gene family

Ubiquitin is a highly conserved protein that is encoded by a multigene family. It is generally believed that this gene family is subject to concerted evolution, which homogenizes the member genes of the family. However, protein homogeneity can be attained also by strong purifying selection. We therefore studied the proportion (pS) of synonymous nucleotide differences between members of the ubiquitin gene family from 28 species of fungi, plants, and animals. The results have shown that pS is generally very high and is often close to the saturation level, although the protein sequence is virtually identical for all ubiquitins from fungi, plants, and animals. A small proportion of species showed a low level of pS values, but these values appeared to be caused by recent gene duplication. It was also found that the number of repeat copies of the gene family varies considerably with species, and some species harbor pseudogenes. These observations suggest that the members of this gene family evolve almost independently by silent nucleotide substitution and are subjected to birth-and-death evolution at the DNA level.

Correlates of the desired family size among Indian communities.

The People of India database of the Anthropological Survey of India documents 631 cultural, ecological, and economic traits of the 4635 communities to which the entire Indian population is assigned. Focusing on 1342 communities of South India, we looked for correlates of low (1 or 2 children) and high (4 or more children) desired family size (DFS) reported as the norm for any given community by key informants. We found 10 cultural and 18 economic traits to be significantly correlated to high DFS and 21 cultural and 9 economic traits to low DFS. The economic traits so identified are compatible with high family size being desired by parents who have little capability of investing in quality of offspring, but whose children contribute economically from an early age. In contrast, communities desiring low family size are part of the modern intensive agriculture/organized industry/services sector and invest heavily in educating their children. A composite index based on 27 economic traits (CEI) has a high predictive value with respect to the DFS for the entire set of 4635 Indian communities. The 31 cultural traits highly correlated to high or low DFS constitute 5 clusters that can be identified as characterizing scheduled tribes, scheduled castes, rural and landless lower castes, urban upper castes, and Moslems. Whereas economic traits have similar influence on DFS within each of these ethnic categories, Moslems demonstrate a significantly higher DFS for lower values of CEI.

Latino Family Involvement: An Exploratory Study of Latina Mother-Daughter Relationships and their Effects on Educational Attainment and Resiliency

Latino family involvement is an important issue in the field of education. Effective strategies to promote family involvement in the Latino community are vital for the educational attainment of Latino students and emotional wellbeing of Latino families. This study used focus groups, in-depth interviews, and observations to examine Latino family involvement and the relationships and communication patterns between Latina mothers and daughters. The Latina mother-daughter relationship was studied in an effort to gain a better understanding of how this relationship affects a Latina daughter's educational attainment and sense of resiliency. Results indicated that a positive relationship between a Latina mother and daughter can increase a Latina daughter's level of educational attainment and sense of resiliency. Additionally, a Latina daughter's level of self-motivation can affect her level of educational attainment as well. Cultural narratives were found to be a common type of communication pattern used between Latina mothers and daughters. They were used to teach cultural values, life lessons, and experiential learning. By improving family involvement efforts within the Latino culture, Latino students will likely see drastic improvements in their overall levels of educational attainment and emotional wellbeing in schools. Implications for Latino students and families, schools that work with Latino families, and educational policy are also discussed.

Father, Mother, Child? Eight Trends in Family Life for Policymakers to Keep in Mind. Summary

The family is the first context for a child’s development, and the most important. This is where children begin to develop their own identities and first experience a sense of closeness, community and security. Family is a domain where learning takes place – for all generations. In their daily interactions, children, mothers and fathers learn from and with one another. They develop empathy and a sense of responsibility, and learn to deal with conflict. Values, beliefs and norms, passed on from parents to children, evolve in the course of everyday life. Thus parents exert an enormous influence on their children’s educational opportunities and overall life chances – as research in Germany and other countries has clearly shown.

Diagnosis of diabetes mellitus: case of different cutoff values: A data mining approach

Objective: An estimation of cut-off points for the diagnosis of diabetes mellitus (DM) based on individual risk factors. Methods: A subset of the 1991 Oman National Diabetes Survey is used, including all patients with a 2h post glucose load >= 200 mg/dl (278 subjects) and a control group of 286 subjects. All subjects previously diagnosed as diabetic and all subjects with missing data values were excluded. The data set was analyzed by use of the SPSS Clementine data mining system. Decision Tree Learners (C5 and CART) and a method for mining association rules (the GRI algorithm) are used. The fasting plasma glucose (FPG), age, sex, family history of diabetes and body mass index (BMI) are input risk factors (independent variables), while diabetes onset (the 2h post glucose load >= 200 mg/dl) is the output (dependent variable). All three techniques used were tested by use of crossvalidation (89.8%). Results: Rules produced for diabetes diagnosis are: A- GRI algorithm (1) FPG>=108.9 mg/dl, (2) FPG>=107.1 and age>39.5 years. B- CART decision trees: FPG >=110.7 mg/dl. C- The C5 decision tree learner: (1) FPG>=95.5 and 54, (2) FPG>=106 and 25.2 kg/m2. (3) FPG>=106 and =133 mg/dl. The three techniques produced rules which cover a significant number of cases (82%), with confidence between 74 and 100%. Conclusion: Our approach supports the suggestion that the present cut-off value of fasting plasma glucose (126 mg/dl) for the diagnosis of diabetes mellitus needs revision, and the individual risk factors such as age and BMI should be considered in defining the new cut-off value.

The impact of family forms on interpersonal influence between single parent and full families

The relationship between individual thoughts and the social environment has been widely studied in sociology (Weber, 1968), psychology (Lewin, 1951) and social psychology. The influence of reference groups on individual behaviour is often manifested in the decisions made by consumers while members of these reference groups are often the individual’s friends and acquaintances. Their decisions, their values and norms serve as an example for the individual. In this study the influences of reference groups are examined within the context of the family form in Hungary. The paper focuses on the nature of peer influence in single parent households and full families, to analyse the normative and informational dimensions of peer pressure and communication patterns within the family.

Prognostic value of the diagnostic criteria distinguishing endometrial stromal sarcoma, low grade from undifferentiated endometrial sarcoma, 2 entities within the invasive endometrial stromal neoplasia family

The World Health Organization (WHO 2003) recognizes 3 endometrial stromal neoplasms: noninvasive endometrial stromal nodule and the 2 invasive neoplasms, endometrial stromal sarcoma (ESS), low grade and undifferentiated endometrial sarcoma (UES). It is important to note that the WHO 2003 does not define moderate atypia (an important differentiating diagnostic criterion for ESS, low grade and UES), nor does it discuss its significance. Moreover, studies on reproducibility and additional prognostic value of other diagnostic features in large are lacking. Using strict definitions, we analyzed the agreement between routine and expert-review necrosis and nuclear atypia in 91 invasive endometrial stromal neoplasias (IESN). The overall 5-year and 10-year recurrence-free survival rate estimates of the 91 IESN patients were 82% and 75%, respectively. Necrosis was well reproducible, and nuclear atypia was reasonably well reproducible. The 10-year recurrence-free survival rates for necrosis absent/inconspicuous versus prominent were 89% and 45% (P<0.001) and those for review-confirmed none/mild, moderate, severe atypia were 90%, 30%, and <20% (P<0.00001). Therefore, cases with moderate/severe atypia should be grouped together. Nuclear atypia and necrosis had independent prognostic values (Cox regression). Once these features were taken into account, no other feature had an independent additional prognostic value, including mitotic count. Using "none/mild atypia, necrosis absent/inconspicuous" as ESS, low grade versus "moderate/severe atypia present or necrosis present" as UES resulted in 68 ESS, low grade and 23 UES cases with disease-specific overall mortality-free survival of 99% versus 48% (P<0.00001, hazard ratio=45.4). When strictly defined microscopic criteria are used, the WHO 2003 diagnoses of ESS, low grade and UES are well reproducible and prognostically strong. © 2012 International Society of Gynecological Pathologists.

Psychological and Interpersonal Implications of Believing that Everything is One: Identity, Personality, Values, and Worldviews

For thousands of years, people from a variety of philosophical, religious, spiritual, and scientific perspectives have believed in the fundamental unity of all that exists, and this belief appears to be increasingly prevalent in Western cultures. The present research was the first investigation of the psychological and interpersonal implications of believing in oneness. Self-report measures were developed to assess three distinct variants of the belief in oneness – belief in the fundamental oneness of everything, of all living things, and of humanity – and studies examined how believing in oneness is associated with people’s self-views, attitudes, personality, emotions, and behavior. Using both correlational and experimental approaches, the findings supported the hypothesis that believing in oneness is associated with feeling greater connection and concern for people, nonhuman animals, and the environment, and in being particularly concerned for people and things beyond one’s immediate circle of friends and family. The belief is also associated with experiences in which everything is perceived to be one, and with certain spiritual and esoteric beliefs. Although the three variations of belief in oneness were highly correlated and related to other constructs similarly, they showed evidence of explaining unique variance in conceptually relevant variables. Belief in the oneness of humanity, but not belief in the oneness of living things, uniquely explained variance in prosociality, empathic concern, and compassion for others. In contrast, belief in the oneness of living things, but not belief in oneness of humanity, uniquely explained variance in beliefs and concerns regarding the well-being of nonhuman animals and the environment. The belief in oneness is a meaningful existential belief that is endorsed to varying degrees by a nontrivial portion of the population and that has numerous implications for people’s personal well-being and interactions with people, animals, and the natural world.

Perceptions of the role of the man in family planning, during pregnancy and childbirth : A qualitative study with fifteen Nepali men

Introduction: In Nepal, by tradition, family life and marriage are generally controlled by patriarchal norms, sanctions, values and gender differences. Women in Nepal have limited possibilities to make decisions regarding their sexual and reproductive health, as the husbands and other elders in the family make most of the decisions regarding family planning, pregnancy and childbirth. Aim: To describe the perceptions of Nepali men regarding the role of the man with respect to family planning, pregnancy and childbirth. Methods: A qualitative study was conducted with 15 Nepali men in both urban and rural areas. The material was analyzed through inductive content analysis. Findings: One main category and two generic categories were identified. One generic category contained six subcategories and the other five subcategories. The main category was labeled: “He leads – She follows” and the generic categories were labeled: “Supporting women in family planning, during pregnancy and childbirth” and “Withdrawal from supporting women in family planning, during pregnancy and childbirth”. Conclusion: The role of the Nepali men with respect to family planning, pregnancy and childbirth, was identified as a conflicted approach. This study highlights the importance of understanding the influence of culture and tradition when developing strategies for promoting sexual and reproductive health during family planning, pregnancy and childbirth among families in Nepal.

Epidemiology and genetic architecture of blood pressure: a family based study of Generation Scotland

Hypertension is a major risk factor for cardiovascular disease and mortality, and a growing global public health concern, with up to one-third of the world’s population affected. Despite the vast amount of evidence for the benefits of blood pressure (BP) lowering accumulated to date, elevated BP is still the leading risk factor for disease and disability worldwide. It is well established that hypertension and BP are common complex traits, where multiple genetic and environmental factors contribute to BP variation. Furthermore, family and twin studies confirmed the genetic component of BP, with a heritability estimate in the range of 30-50%. Contemporary genomic tools enabling the genotyping of millions of genetic variants across the human genome in an efficient, reliable, and cost-effective manner, has transformed hypertension genetics research. This is accompanied by the presence of international consortia that have offered unprecedentedly large sample sizes for genome-wide association studies (GWASs). While GWAS for hypertension and BP have identified more than 60 loci, variants in these loci are associated with modest effects on BP and in aggregate can explain less than 3% of the variance in BP. The aims of this thesis are to study the genetic and environmental factors that influence BP and hypertension traits in the Scottish population, by performing several genetic epidemiological analyses. In the first part of this thesis, it aims to study the burden of hypertension in the Scottish population, along with assessing the familial aggregation and heritialbity of BP and hypertension traits. In the second part, it aims to validate the association of common SNPs reported in the large GWAS and to estimate the variance explained by these variants. In this thesis, comprehensive genetic epidemiology analyses were performed on Generation Scotland: Scottish Family Health Study (GS:SFHS), one of the largest population-based family design studies. The availability of clinical, biological samples, self-reported information, and medical records for study participants has allowed several assessments to be performed to evaluate factors that influence BP variation in the Scottish population. Of the 20,753 subjects genotyped in the study, a total of 18,470 individuals (grouped into 7,025 extended families) passed the stringent quality control (QC) criteria and were available for all subsequent analysis. Based on the BP-lowering treatment exposure sources, subjects were further classified into two groups. First, subjects with both a self-reported medications (SRMs) history and electronic-prescription records (EPRs; n =12,347); second, all the subjects with at least one medication history source (n =18,470). In the first group, the analysis showed a good concordance between SRMs and EPRs (kappa =71%), indicating that SRMs can be used as a surrogate to assess the exposure to BP-lowering medication in GS:SFHS participants. Although both sources suffer from some limitations, SRMs can be considered the best available source to estimate the drug exposure history in those without EPRs. The prevalence of hypertension was 40.8% with higher prevalence in men (46.3%) compared to women (35.8%). The prevalence of awareness, treatment and controlled hypertension as defined by the study definition were 25.3%, 31.2%, and 54.3%, respectively. These findings are lower than similar reported studies in other populations, with the exception of controlled hypertension prevalence, which can be considered better than other populations. Odds of hypertension were higher in men, obese or overweight individuals, people with a parental history of hypertension, and those living in the most deprived area of Scotland. On the other hand, deprivation was associated with higher odds of treatment, awareness and controlled hypertension, suggesting that people living in the most deprived area may have been receiving better quality of care, or have higher comorbidity levels requiring greater engagement with doctors. These findings highlight the need for further work to improve hypertension management in Scotland. The family design of GS:SFHS has allowed family-based analysis to be performed to assess the familial aggregation and heritability of BP and hypertension traits. The familial correlation of BP traits ranged from 0.07 to 0.20, and from 0.18 to 0.34 for parent-offspring pairs and sibling pairs, respectively. A higher correlation of BP traits was observed among first-degree relatives than other types of relative pairs. A variance-component model that was adjusted for sex, body mass index (BMI), age, and age-squared was used to estimate heritability of BP traits, which ranged from 24% to 32% with pulse pressure (PP) having the lowest estimates. The genetic correlation between BP traits showed a high correlation between systolic (SBP), diastolic (DBP) and mean arterial pressure (MAP) (G: 81% to 94%), but lower correlations with PP (G: 22% to 78%). The sibling recurrence risk ratio (λS) for hypertension and treatment were calculated as 1.60 and 2.04 respectively. These findings confirm the genetic components of BP traits in GS:SFHS, and justify further work to investigate genetic determinants of BP. Genetic variants reported in the recent large GWAS of BP traits were selected for genotyping in GS:SFHS using a custom designed TaqMan® OpenArray®. The genotyping plate included 44 single nucleotide polymorphisms (SNPs) that have been previously reported to be associated with BP or hypertension at genome-wide significance level. A linear mixed model that is adjusted for age, age-squared, sex, and BMI was used to test for the association between the genetic variants and BP traits. Of the 43 variants that passed the QC, 11 variants showed statistically significant association with at least one BP trait. The phenotypic variance explained by these variant for the four BP traits were 1.4%, 1.5%, 1.6%, and 0.8% for SBP, DBP, MAP, and PP, respectively. The association of genetic risk score (GRS) that were constructed from selected variants has showed a positive association with BP level and hypertension prevalence, with an average effect of one mmHg increase with each 0.80 unit increases in the GRS across the different BP traits. The impact of BP-lowering medication on the genetic association study for BP traits has been established, with typical practice of adding a fixed value (i.e. 15/10 mmHg) to the measured BP values to adjust for BP treatment. Using the subset of participants with the two treatment exposure sources (i.e. SRMs and EPRs), the influence of using either source to justify the addition of fixed values in SNP association signal was analysed. BP phenotypes derived from EPRs were considered the true phenotypes, and those derived from SRMs were considered less accurate, with some phenotypic noise. Comparing SNPs association signals between the four BP traits in the two model derived from the different adjustments showed that MAP was the least impacted by the phenotypic noise. This was suggested by identifying the same overlapped significant SNPs for the two models in the case of MAP, while other BP traits had some discrepancy between the two sources

Bis(arylene-ethynylene)-s-tetrazines: A Promising Family of n-Type Organic Semiconductors?

We theoretically describe in this work the n-type semiconducting behavior of a set of bis(arylene-ethynylene)-s-tetrazines ((ArCC)2Tz), by comparing their electronic properties with those of their parent diaryl-s-tetrazines (Ar2Tz) after the introduction of ethynylene bridges. The significantly reduced internal reorganization energy for electron transfer is ascribed to an extended delocalization of the LUMO for (ArCC)2Tz as opposite to that for Ar2Tz, which was described mostly localized on the s-tetrazine ring. The largest electronic coupling and the corresponding electron transfer rates found for bis(phenyl-ethynylene)-s-tetrazine, as well as for some halogenated derivatives, are comparable to those reported for the best performing n-type organic semiconductor materials such as diimides and perylenes. The theoretical mobilities for the studied compounds turn out to be in the range 0.3–1.3 cm2 V–1 s–1, close to values experimentally determined for common n-type organic semiconductors used in real devices. In addition, ohmic contacts can be expected when these compounds are coupled to metallic cathodes such as Na, Ca, and Sm. For these reasons, the future application of semiconducting bis(phenyl-ethynylene)-s-tetrazine and its fluorinated and brominated derivatives in optoelectronic devices is envisioned.

Succession in the Family Business: Need to Transfer the ‘Socio-Emotional Wealth’ (SEW)

Rather often we have to confront with the pessimistic views on the future of the family business. Contrary to these prognosis, the FB is not only present but also improving its position in the global economy and playing a key role in the European economy too. They represent 60 % of employment and more than 60 million jobs in the private sector. Among many internal challenges of FB in the five years’ time, the importance of the ‘company succession’ is increasing together with the renewing technology and ‘attracting the right sills/ talents’ (Global Family Survey, 2015). This article is focusing on the transfer of socio-economic wealth (SEW) as a key intangible asset within the intergenerational changes in the FB. The paper outlines the various concepts (narrow vs. broad) of the SEW and special attention is paid to the risk prone [taken] and risk adverse entrepreneurial attitudes. In this relation, the authors made distinction between the ‘opportunity’ and ‘necessity entrepreneurs’. Using empirical experiences based on multi-site company case studies in the three INSIST project countries, the various sub-sections are focusing on the transfer of the following key components of the SEW to the next generation: trust-based social-system, generic human values (i.e. openness, mutual respect, correctness, reliability, responsibility etc.) and ‘practice based – embedded collective knowledge’. Key lesson of this analysis is the following: transferring physical assets in the succession process seems to us less important than the transfer of the intangible one embedded in the company’s culture community. Further systematic national and international investigations – combining quantitative and qualitative research tools – are necessary to acquire more accurate picture on the impacts of transferring both intangible and tangible assets in the succession process in the FB.