INSIG1 influences obesity-related hypertriglyceridemia in humans

In our analysis of a quantitative trait locus (QTL) for plasma triglyceride (TG) levels [logarithm of odds (LOD) = 3.7] on human chromosome 7q36, we examined 29 single nucleotide polymorphisms (SNPs) across INSIG1, a biological candidate gene in the region. Insulin-induced genes (INSIGs) are feedback mediators of cholesterol and fatty acid synthesis in animals, but their role in human lipid regulation is unclear. In our cohort, the INSIG1 promoter SNP rs2721 was associated with TG levels (P = 2 × 10−3 in 1,560 individuals of the original linkage cohort, P = 8 × 10−4 in 920 unrelated individuals of the replication cohort, combined P = 9.9 × 10−6). Individuals homozygous for the T allele had 9% higher TG levels and 2-fold lower expression of INSIG1 in surgical liver biopsy samples when compared with individuals homozygous for the G allele. Also, the T allele showed additional binding of nuclear proteins from HepG2 liver cells in gel shift assays. Finally, the variant rs7566605 in INSIG2, the only homolog of INSIG1, enhances the effect of rs2721 (P = 0.00117). The variant rs2721 alone explains 5.4% of the observed linkage in our cohort, suggesting that additional, yet-undiscovered genes and sequence variants in the QTL interval also contribute to alterations in TG levels in humans

Diagnosis of oral pigmentations and malignant transformations

AbstractBackgroundOral pigmentation is a common finding in the mouth. Pigmentation can be either normal or abnormal discoloration of oral mucous membrane. The purpose of this review mainly focuses on the main oral pigmented lesions, in order to help the clinicians establish a better approach towards the patients with pigmented oral lesions and to provide thorough knowledge regarding such lesions for patient reassurance, early definitive diagnosis and prompt treatment.MethodsRelevant data concerning oral pigmented lesions, clinical features and the possibility of malignant transformation of such lesions were reviewed thoroughly from pubmed literature published in English. Pigmented lesions affecting the skin were not included in our review.ResultsFew pigmented lesions have been identified and their tendency to become malignant has been reported in the literature. The oral lesions showing malignant transformation reported were mostly case series. Unfortunately, due to lack of long-term studies, follow ups and randomized controlled studies in this respect it was difficult to draw a statistical analysis. This information is quite crucial for general dental practitioners to improve their understanding regarding oral lesions and to differentiate between normal and diseased conditions, so that they can master the skill of differential diagnosis, definitive diagnosis and prompt treatment.ConclusionOral pigmentation may present as focal, multifocal or diffused macular or tumefactive lesions. They may greatly vary in color as blue, purple, brown, gray or black depending on the quantity and site of melanin in the tissues [1]. Etiology of pigmentation can be multi factorial. Mostly pigmentation is physiologic but at times it can be a precursor of severe diseases.Lesions may be caused by localized harmless accumulations of melanin, hemosiderin or exogenous metals or they may be a sign of underlying systemic or genetic disease. A few lesions may be associated with life-threatening medical conditions that require immediate intervention. The differential diagnosis for any pigmented lesion is extensive, as it includes examples of endogenous and exogenous pigmentations. Although biopsy is a helpful and necessary aid in the diagnosis of focally pigmented lesions, with diffuse pigmentation lesions require a thorough dental and medical history and laboratory investigations

Genetic and social influences on starting to smoke: a study of Dutch adolescent twins and their parents

In a study of 1600 Dutch adolescent twin pairs we found that 59% of the inter‐individual variation in smoking behaviour could be attributed to shared environmental influences and 31% to genetic factors. The magnitude of the genetic and environmental effects did not differ between boys and girls. However, environmental effects shared by male twins and environmental effects shared by female twins were imperfectly correlated in twins from opposite‐sex pairs, indicating that different environmental factors influence smoking in adolescent boys and girls. In the parents of these twins, the correlation between husband and wife for‘currently smoking’(r = 0.43) was larger than for‘ever smoked’(r = 0.18). There was no evidence that smoking of parents (at present or in the past) encouraged smoking in their offspring. Resemblance between parents and offspring was significant but rather low and could be accounted for completely by their genetic relatedness. Moreover, the association between‘currently smoking’in the parents and smoking behaviour in their children was not larger than the association between‘ever smoking’in parents and smoking in their children. Copyright © 1994, Wiley Blackwell. All rights reserve

ACE and UCP2 gene polymorphisms and their association with baseline and exercise-related changes in the functional performance of older adults

Maintaining high levels of physical function is an important aspect of successful ageing. While muscle mass and strength contribute to functional performance in older adults, little is known about the possible genetic basis for the heterogeneity of physical function in older adults and in how older adults respond to exercise. Two genes that have possible roles in determining levels of muscle mass, strength and function in young and older adults are angiotensin-converting enzyme (ACE) and mitochondrial uncoupling protein 2 (UCP2). This study examined whether polymorphisms in these two individual genes were associated with baseline functional performance levels and/or the training-related changes following exercise in previously untrained older adults. Five-eight Caucasian older adults (mean age 69.8 years) with no recent history of resistance training enrolled in a 12 week program of resistance, balance and cardiovascular exercises aimed at improving functional performance. Performance in 6 functional tasks was recorded at baseline and after 12 weeks. Genomic DNA was assayed for the ACE intron 16 insertion/deletion (I/D) and the UCP2 G-866A polymorphism. Baseline differences among genotype groups were tested using analysis of variance. Genotype differences in absolute and relative changes in physical function among the exercisers were tested using a general linear model, adjusting for age and gender. The genotype frequencies for each of the studied polymorphisms conformed to the Hardy-Weinberg equilibrium. The ACE I/D genotype was significantly associated with mean baseline measures of handgrip strength (II 30.9 ± 3.01 v. ID 31.7 ± 1.48 v. DD 29.3 ± 2.18 kg, p < 0.001), 8ft Up and Go time (II 6.45 ± 0.48 v. ID/DD 4.41 ± 0.19 s, p < 0.001) and 6 min walk distance (II 458 ± 28.7 v. ID/DD 546 ± 12.1m, p = 0.008). The UCP2 G-866A genotype was also associated with baseline 8ft Up and Go time (GG 5.45 ± 0.35 v. GA 4.47 ± 0.26 v. AA 3.89 ± 0.71 s, p = 0.045). After 12 weeks of training, a significant difference between UCP2 G-886A genotype groups for change in 8ft Up and Go time was detected (GG -0.68 ± 0.17 v. GA -0.10 ± 0.14 v. AA +0.05 ± 0.31 s, p = 0.023). While several interesting and possibly consistent associations with older adults' baseline functional performance were found for the ACE and UCP2 polymorphisms, we found no strong evidence of genetic associations with exercise responses in this study. The relative equivalence of some of these training-response findings to the literature may have reflected the current study's focus on physical function rather than just strength, the relatively high levels of baseline function for some genotype groups as well as the greater statistical power for detecting baseline differences than the training-related changes

No evidence of a common DNA variant profile specific to world class endurance athletes

There are strong genetic components to cardiorespiratory fitness and its response to exercise training. It would be useful to understand the differences in the genomic profile of highly trained endurance athletes of world class caliber and sedentary controls. An international consortium (GAMES) was established in order to compare elite endurance athletes and ethnicity-matched controls in a case-control study design. Genome-wide association studies were undertaken on two cohorts of elite endurance athletes and controls (GENATHLETE and Japanese endurance runners), from which a panel of 45 promising markers was identified. These markers were tested for replication in seven additional cohorts of endurance athletes and controls: from Australia, Ethiopia, Japan, Kenya, Poland, Russia and Spain. The study is based on a total of 1520 endurance athletes (835 who took part in endurance events in World Championships and/or Olympic Games) and 2760 controls. We hypothesized that world-class athletes are likely to be characterized by an even higher concentration of endurance performance alleles and we performed separate analyses on this subsample. The meta-analysis of all available studies revealed one statistically significant marker (rs558129 at GALNTL6 locus, p = 0.0002), even after correcting for multiple testing. As shown by the low heterogeneity index (I2 = 0), all eight cohorts showed the same direction of association with rs558129, even though p-values varied across the individual studies. In summary, this study did not identify a panel of genomic variants common to these elite endurance athlete groups. Since GAMES was underpowered to identify alleles with small effect sizes, some of the suggestive leads identified should be explored in expanded comparisons of world-class endurance athletes and sedentary controls and in tightly controlled exercise training studies. Such studies have the potential to illuminate the biology not only of world class endurance performance but also of compromised cardiac functions and cardiometabolic diseases

Understanding the Role that the Internet and Social Media Plays in Suicide Survivor Bereavement

Every year more than 47,000 individuals die by suicide in the United States, leaving behind numerous family and friends who become suicide survivors. While there are prodigious amounts of research on suicidal behavior, little research has focused on what the surviving family members, friends, and community members need after the loss. Many suicide survivors use social media to address their grief and pain in a very public manner. A constructionist social theory of grief and existential phenomenology provided the framework for this qualitative study to examine the use of the Internet and social media as a forum for those grieving the loss of a loved one to suicide. Suicide survivors were recruited through purposeful sampling and interviewed about their experiences using the Internet and social media as a coping tool for dealing with their loss. Four themes emerged from the research: intrapersonal, interpersonal, community, and societal. These themes identified how positive social change can result from survivorship and the use of the Internet and social media as a tool for growth. Through this study, I contribute to social change by providing more knowledge about how suicide survivors can address their needs after losing a loved one. Additional research will allow mental health professionals, medical providers, and natural supports (e.g., friends, family, or clergy) to understand this population\u27s needs. This new knowledge also provides insight for website designers who work with groups such as the American Foundation on Suicide Prevention and others in providing online opportunities for grieving, making their efforts more effective, especially for those living in rural areas

Changes Over Time in Masters Level School Counselor Education Programs

A national survey regarding the preparation of entry-level school counseling students was conducted to assess changes over time that may have occurred in the credit hours, screening methods, faculty experiences, course content, fieldwork requirements, and importance of The Education Trust concepts. Key findings include increases in the number of faculty with school counseling experience and the number of programs requiring practicum and internship to be completed in a school setting, and decreases in the number of courses designed specifically for school counseling students and the importance of supervision

No Evidence of a Common DNA Variant Profile Specific to World Class Endurance Athletes

There are strong genetic components to cardiorespiratory fitness and its response to exercise training. It would be useful to understand the differences in the genomic profile of highly trained endurance athletes of world class caliber and sedentary controls. An international consortium (GAMES) was established in order to compare elite endurance athletes and ethnicity-matched controls in a case-control study design. Genome-wide association studies were undertaken on two cohorts of elite endurance athletes and controls (GENATHLETE and Japanese endurance runners), from which a panel of 45 promising markers was identified. These markers were tested for replication in seven additional cohorts of endurance athletes and controls: from Australia, Ethiopia, Japan, Kenya, Poland, Russia and Spain. The study is based on a total of 1520 endurance athletes (835 who took part in endurance events in World Championships and/or Olympic Games) and 2760 controls. We hypothesized that world-class athletes are likely to be characterized by an even higher concentration of endurance performance alleles and we performed separate analyses on this subsample. The meta-analysis of all available studies revealed one statistically significant marker (rs558129 at GALNTL6 locus, p = 0.0002), even after correcting for multiple testing. As shown by the low heterogeneity index (I2 = 0), all eight cohorts showed the same direction of association with rs558129, even though p-values varied across the individual studies. In summary, this study did not identify a panel of genomic variants common to these elite endurance athlete groups. Since GAMES was underpowered to identify alleles with small effect sizes, some of the suggestive leads identified should be explored in expanded comparisons of world-class endurance athletes and sedentary controls and in tightly controlled exercise training studies. Such studies have the potential to illuminate the biology not only of world class endurance performance but also of compromised cardiac functions and cardiometabolic diseases

Changes Over Time in Masters Level School Counselor Education Programs

A national survey regarding the preparation of entry-level school counseling students was conducted to assess changes over time that may have occurred in the credit hours, screening methods, faculty experiences, course content, fieldwork requirements, and importance of The Education Trust concepts. Key findings include increases in the number of faculty with school counseling experience and the number of programs requiring practicum and internship to be completed in a school setting, and decreases in the number of courses designed specifically for school counseling students and the importance of supervision

Associations of physical activity with body weight and fat in men and women

OBJECTIVE: Increasing physical activity is strongly advocated as a key public health strategy for weight gain prevention. We investigated associations of leisure-time physical activity (LTPA) and occupational/domestic physical activity with body mass index (BMI) and a skinfold-derived index of body fat (sum of six skinfolds), among normal-weight and overweight men and women.DESIGN: Analyses of cross-sectional self-report and measured anthropometric data.SUBJECTS: A total of 1302 men and women, aged 18-78 y, who were part of a randomly selected sample and who agreed to participate in a physical health assessment.MEASUREMENTS: Self-report measures of physical activity, measured height and weight, and a skinfold-derived index of body fatness.RESULTS: Higher levels of LTPA were positively associated with the likelihood of being in the normal BMI and lower body fat range for women, but few or no associations were found for men. No associations were found between measures of occupational/domestic activity and BMI or body fat for men or women.CONCLUSION: By using a skinfold sum as a more direct measure of adiposity, this study extends and confirms the previous research that has shown an association between BMI and LTPA. Our results suggest gender differences in the relationship of leisure-time physical activity with body fatness. These findings, in conjunction with a better understanding of the causes of such differences, will have important public health implications for the development and targeting of weight gain prevention strategies.<br /