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Selected AbstractsDepression and the metabolic syndrome: gender-dependent associationsDEPRESSION AND ANXIETY, Issue 8 2008Sharon Toker Ph.D. Abstract This study was designed to test the extent to which depressive symptoms are associated with the presence of the metabolic syndrome (MS) and each of its components, and whether these relationships are gender dependent. Participants were apparently healthy employed men (N=2,355) and women (N=1,525) who underwent a routine health check between the years 2003 and 2005. We used logistic regression analysis, predicting the MS by depressive symptoms, as assessed by the Patient Health Questionnaire, and the following control variables: age, education, smoking status, physical exercise, anxiety, and burnout. As hypothesized, we found that depression among women, but not men, was associated with a 1.94-fold risk of having the MS, and with an elevated risk of having two of its five components: elevated waist circumference (odds ratio, OR=2.23) and elevated glucose levels (OR=2.44). In addition, a positive trend was observed toward an association with the other three components: low high-density lipoprotein, hypertension, and elevated triglycerides. Among men depression was associated with elevated waist circumference only (OR=1.77). These findings suggest that especially among women, the association between depression and cardiovascular diseases might be linked to metabolic processes. If replicated in longitudinal studies, these findings may have important health-care policy implications with regard to depression management interventions. Depression and Anxiety 0:1,9, 2007. © 2007 Wiley-Liss, Inc. [source] Glutathione S-transferase P1 and alpha gene variants; role in susceptibility and tumor size development of oral cancerHEAD & NECK: JOURNAL FOR THE SCIENCES & SPECIALTIES OF THE HEAD AND NECK, Issue 8 2010Mu-Kuan Chen MD Abstract Background. The aim of this study was to estimate the relationship of glutathione S-transferases (GST)P1, GSTA1, GSTM1, and GSTT1 gene polymorphisms to oral cancer risk. Methods. Polymerase chain reaction,restriction fragment length polymorphism (PCR-RFLP) was used to measure these 4 gene polymorphisms in 274 controls and 164 oral cancer patients. Results. Individuals with at least 1 varied G allele of GSTP1 had a 1.53-fold risk (95% confidence interval [CI] = 1.01,2.31) of developing oral cancer compared with patients with wild-type A/A homozygotes. Oral cancer patients with at least 1 varied T allele of GSTA1 gene had a 0.42-fold risk (95% CI = 0.18,0.95) of having a tumor size >2 cm compared with patients with C/C homozygotes. Conclusions. The varied G allele of GSTP1 may be considered as a factor contributing to increased susceptibility, whereas the T allele of GSTA1 could be a protective factor for tumor size progression in Taiwanese with oral cancer. © 2009 Wiley Periodicals, Inc. Head Neck, 2010 [source] Hemochromatosis genotypes and risk of 31 disease endpoints: Meta-analyses including 66,000 cases and 226,000 controls,HEPATOLOGY, Issue 4 2007Christina Ellervik Hemochromatosis genotypes have been associated with liver disease, diabetes mellitus, heart disease, arthritis, porphyria cutanea tarda, stroke, neurodegenerative disorders, cancer, and venous disease. We performed meta-analyses including 202 studies with 66,263 cases and 226,515 controls to examine associations between hemochromatosis genotypes C282Y/C282Y, C282Y/H63D, C282Y/wild type, H63D/H63D, and H63D/wild type versus wild type/wild type and 9 overall endpoints and 22 endpoint subgroups. We also explored potential sources of heterogeneity. For liver disease, the odds ratio for C282Y/C282Y versus wild type/wild type was 3.9 (99% confidence interval: 1.9,8.1) overall, 11 (3.7,34) for hepatocellular carcinoma, 4.1 (1.2,14) for hepatitis C, and 10 (2.1,53) for nonalcoholic steatohepatitis. For porphyria cutanea tarda, the odds ratios were 48 (24,95) for C282Y/C282Y, 8.1 (3.9,17) for C282Y/H63D, 3.6 (1.8,7.3) for C282Y/wild type, 3.0 (1.6,5.6) for H63D/H63D, and 1.7 (1.0,3.1) for H63D/wild type versus wild type/wild type. Finally, for amyotrophic lateral sclerosis, the odds ratio was 3.9 (1.2,13) for H63D/H63D versus wild type/wild type. These findings were consistent across individual studies. The hemochromatosis genotypes were not associated with risk for diabetes mellitus, heart disease, arthritis, stroke, cancer, or venous disease in the overall analyses; however, the odds ratio for C282Y/C282Y versus wild type/wild type was 3.4 (1.1,11) for diabetes mellitus among North Europeans. Conclusion: In aggregate, clinically ascertained cases who are homozygous for the C282Y mutation are associated with a 4,11,fold risk of liver disease, whereas all 5 hemochromatosis genotypes are associated with a 2,48,fold risk of porphyria cutanea tarda, and H63D/H63D is associated with a 4-fold risk of amyotrophic lateral sclerosis. These results, mainly from case-control studies, cannot necessarily be extrapolated to the general population. (HEPATOLOGY 2007.) [source] Genetic Polymorphism of KCNH2 Confers Predisposition of Acquired Atrial Fibrillation in ChineseJOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY, Issue 10 2009QUN-SHAN WANG M.D. Introduction: Nonfamiliar atrial fibrillation (AF) is usually associated with acquired structural heart disease, including valvular heart disease, coronary artery disease, and hypertension. Suggestive evidence indicates that these forms of acquired AF are more likely to occur in individuals with a genetic predisposition. We investigated the effect of the potassium channel voltage-gated subfamily member 2 (KCNH2) gene on the prevalence of acquired AF in a Chinese population. Methods: In a pair-matched, hospital-based case control study (297 vs 297) conducted in Chinese Hans, we investigated 4 tagging single nucleotide polymorphisms (tSNPs), rs1805120, rs1036145, rs3807375, and rs2968857 in the KCNH2 gene, and determined their association with AF acquired from structural heart diseases. Results: We did not observe the association of rs1036145, rs3807375, and rs2968857 with AF. However, we determined that the tSNP, rs1805120, in exon 6 confers the risk of AF in Chinese Hans. Both genotype and allele frequencies of rs1805120 were distributed differently in cases and controls (P = 0.0289 and P = 0.0172, respectively). The most significant association was observed under a recessive model for the minor GG genotype with a 1.45-fold risk of developing AF (95% confidence interval 1.09,1.93, P = 0.012). The significance remained after controlling for the covariates of age, smoking, BMI, hypertension, and diabetes. Conclusion: We report a new genetic variation (rs1805120) in the KCNH2 gene that predisposes Chinese Han individuals to the risk of acquired AF. Further genetic and functional studies are required to identify the etiological variants in linkage disequilibrium with this polymorphism. [source] Familial aggregation of amyotrophic lateral sclerosis,ANNALS OF NEUROLOGY, Issue 1 2009Fang Fang MD Objective To assess the relative risk for amyotrophic lateral sclerosis (ALS) in families of ALS patients. Methods We conducted a cohort study based on the Swedish Multi-Generation Register in 1961 to 2005. Among 6,671 probands (first ALS case in the family), 1,909 full siblings, 13,947 children, and 5,405 spouses were identified (exposed group). Other persons in the Multi-Generation Register, who were siblings, children, or spouses to persons without ALS, served as the reference group. Relative risks for ALS among the exposed group, compared with the reference group, were calculated from Poisson regression models. Concurrence of ALS within twins was assessed in 86,441 twin pairs registered in the Swedish Twin Register. Results Nine cases of ALS were noted among the siblings and 37 cases among the children of the probands, giving a 17-fold risk among the siblings (95% confidence interval, 8.1,30.4) and a 9-fold risk among the children (95% confidence interval, 6.2,12.0), compared with the reference group. Siblings and children had a greater excess risk if the proband was diagnosed at a younger age, and the excess risks decreased with increasing age at diagnosis of the proband (p < 0.001). Spouses had no significantly increased risk (p = 0.27). Two cases were identified among the cotwins of ALS probands, giving a relative risk of 32 (95% confidence interval, 5.2,102.6). Interpretation The siblings and children of ALS patients have an about 10-fold risk for ALS compared with the reference group. The excess risks vary with both age and kinship, indicating a major genetic role in familial ALS. Ann Neurol 2009;66:94,99 [source] Cutaneous manifestations of neonatal lupus and risk of subsequent congenital heart blockARTHRITIS & RHEUMATISM, Issue 4 2010Peter M. Izmirly Objective Cutaneous disease associated with placental transport of maternal anti-SSA/Ro or anti-SSB/La antibodies is transient, and children often appear to be otherwise healthy. However, the impact of this manifestation of neonatal lupus (NL) on the risk of cardiac disease occurring in a future pregnancy is critical for family counseling and for powering preventive trials. The purpose of this study was to determine the recurrence rates of NL, with specific focus on cardiac NL following cutaneous NL in a child enrolled in the Research Registry for Neonatal Lupus (RRNL). Methods Fifty-eight families who were enrolled in the RRNL met the following inclusion criteria for our study: maternal anti-SSA/Ro or anti-SSB/La antibodies, a child with cutaneous NL, and a pregnancy subsequent to the child with cutaneous NL. Results The majority of the 58 mothers (78%) were Caucasian. Of 77 pregnancies that occurred following the birth of a child with cutaneous NL, the overall recurrence rate for any manifestation of NL was 49% (95% confidence interval [95% CI] 37,62%); 14 pregnancies (18.2%) were complicated by cardiac NL, 23 (29.9%) by cutaneous NL, and 1 (1.3%) by hematologic/hepatic NL. A subset analysis was restricted to the 39 children who were born after the initial child with cutaneous NL had been enrolled in the RRNL. The overall recurrence rate for NL was 36% (95% CI 20,52%); 5 pregnancies (12.8%) were complicated by cardiac NL and 9 (23.1%) by cutaneous NL. There were no significant differences in the following maternal risk factors for having a subsequent child with cardiac or cutaneous NL: age, race/ethnicity, anti-SSB/La status, diagnosis, use of nonfluorinated steroids, or breastfeeding. The sex of the subsequent fetus did not influence the development of cardiac or cutaneous NL. Conclusion Based on data from this large cohort, the identification of cutaneous NL in an anti-SSA/Ro antibody,exposed infant is particularly important, since it predicts a 6,10-fold risk of a subsequent child developing cardiac NL. [source] STAT4 is a genetic risk factor for systemic sclerosis having additive effects with IRF5 on disease susceptibility and related pulmonary fibrosisARTHRITIS & RHEUMATISM, Issue 8 2009P. Dieudé Objective Systemic sclerosis (SSc) belongs to the group of connective tissue disorders (CTDs), among which are several disorders characterized by a type I interferon (IFN) signature. The recent identification of an association between IRF5 and SSc further highlights a key role for IFN. STAT4, which encodes STAT-4, contributes to IFN signaling, and its genetic variants were found to be associated with CTDs. The aim of this study was to determine whether the STAT4 rs7574865 single-nucleotide polymorphism is associated with SSc, and whether it interacts with IRF5. Methods Both the STAT4 rs7574865 and IRF5 rs2004640 polymorphisms were genotyped in 1,855 individuals of French Caucasian origin comprising a discovery set of 440 patients with SSc and 485 control subjects and a replication set of 445 patients with SSc and an additional 485 control subjects. Results STAT4 rs7574865 was shown to be associated with SSc (P = 0.001, odds ratio [OR] 1.29, 95% confidence interval [95% CI] 1.11,1.51). This association was not restricted to a particular phenotype. An additive effect of the STAT4 rs7574865 T allele and the IRF5 rs2004640 T allele was observed, resulting in a multiplicatively increased 1.28-fold risk of SSc. The OR for SSc was 2.72 (95% CI 1.86,3.99) for combinations of genotypes with ,3 risk alleles. An additive effect was also detected for fibrosing alveolitis: carriage of at least 3 risk alleles appeared to be an independent risk factor (P = 2.2 × 10,4, OR 1.97, 95% CI 1.28,3.04). Conclusion Our results establish STAT4 rs7574865 as a new SSc genetic susceptibility factor. STAT4 and IRF5 act with additive effects in terms of susceptibility to both SSc and SSc-related fibrosing alveolitis. [source] Cardiac computed tomography: Diagnostic utility and integration in clinical practiceCLINICAL CARDIOLOGY, Issue S1 2006Matthew J. Budoff M.D. Abstract Cardiac applications of computed tomography (CT) is a rapidly growing diagnostic area because of the ability to visualize plaque burden (coronary artery calcification [CAC]) and luminal obstruction (computed tomographic angiography [CTA]) noninvasively. Coronary artery calcification has been validated in over 1,000 studies over the last 20 years, primarily with electron beam tomography. Studies demonstrate several indications that could aid physicians in the management of symptomatic and asymptomatic patients. Determining that a symptomatic patient has no CAC is associated with both a lower risk of an abnormal nuclear study and angiographic obstruction. The ability to detect subclinical atherosclerosis (CAC) with minimal radiation and no contrast makes this an attractive method for risk stratification. New studies demonstrate a 10-fold risk of cardiovascular events with increasing amounts of coronary calcification. The invasive nature, expense, and risk resulting from invasive angiography have been instrumental in encouraging the development of new diagnostic methods that allow the coronary arteries to be visualized noninvasively. Multislice CT, with its advanced spatial and temporal resolution, has opened up new possibilities in the imaging of the heart and major vessels of the chest, including the coronary arteries. The last decade has seen great strides in the field of cardiac imaging, particularly in the ability to visualize the coronary lumen with sufficient diagnostic accuracy. Possessing that qualification, CTA is now being used increasingly in clinical practice. As a result of having high spatial and improved temporal resolutions, this imaging modality not only allows branches of the coronary artery to be evaluated, but also allows simultaneous analysis of other cardiac structures, making it extremely useful for other cardiac applications. This paper reviews the diagnostic utility and limitations of cardiac CT and how it could be integrated into clinical practice. [source] Pre- and post-discharge feeding of very preterm infants: impact on growth and bone mineralizationCLINICAL PHYSIOLOGY AND FUNCTIONAL IMAGING, Issue 4 2003Sangita Kurl Summary In this prospective study we examined (1) how the nutritional status of very preterm infants, judged by growth measures and biochemical values, evolved during the initial hospitalization; (2) the effect of feeding on growth after discharge from hospital; and (3) the risk factors associated with low lumbar bone mineral content (BMC) later in infancy. Sixty-four former preterm infants had their lumbar spine (L2,L4) BMC assessed by dual energy X-ray absorptiometry when they weighed between 5 and 7 kg. Predicted BMC values were calculated based on our previously reported reference lumbar BMC data. These values were used to convert the preterm infants' BMC values into percentages. The extremely preterm group (gestational age ,28 weeks) had significantly more respiratory morbidity and longer duration of hospital stay than the more mature infants. Both groups developed growth retardation and malnutrition during the hospital stay. Exclusive breastfeeding after discharge from hospital supported linear catch-up growth and weight gain but was associated with a 7·0 (1·2,41·7)-fold risk of having low BMC values. The other factors associated with the risk of having low BMC values later in infancy were low serum phosphate levels at 6 weeks, with a 7·8 (1·6,37·0)-fold risk, and male gender, with a 4·3 (1·2,16·1)-fold risk. Appropriately designed interventional studies are needed to improve the growth and nutrition of these infants during initial hospitalization. In order to improve the postdischarge nutrition, we suggest that the amount and duration of multicomponent human milk fortification should be studied further to provide individualized nutrition throughout the catch-up growth period until the end of the first year of life. [source] | ||||||||||