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Folder 19: Spyri Family Photographs, undated
No full textPhotographs of the Spyri family. (L-R) First image label, J GANZ Phot. Zurich. Annt of Johannah Spyri Tanta Rageli. Second image label, Mother of Johannah Spyri Meta Heusser-An Author. Third image label, Johannah Spyri. Fourth image label, The small son of Madame Spyri who died young. Written on the fourth image reads, "Bernhard Spyri.
Advance Directives in Long-Term Care: Implementation of Five Wishes
No full textabstract: Background and Purpose The lack of an advance directive (AD) can predispose a person to an aggressive course of treatment despite their wishes. When AD’s are incomplete, the chances of unwanted procedures, such as tube feedings and repeated transitioning between nursing homes and hospitals often result in the risk of increased mortality and morbidity, especially for older adults. Making end-of-life decisions can improve the quality of death by allowing individuals to make decisions to die in a dignified manner. The purpose of this project was to improve AD completion rates by implementing “Five Wishes” (FW) into the admission process in a long-term care facility (LTCF).
Methods The project took place on the skilled nursing units at a LTCF in Southwestern Arizona over a 2-month period of time. Twenty random charts were assessed before the start of the project to determine the residents AD status. Those 20 were then informed about FW’s and encouraged to complete one, along with all newly admitted residents to the skilled nursing units. Logs were used for data collection and each participating resident signed a HIPPA document. Descriptive statistics were used to describe the sample and outcome variables.
Outcomes Of the 20 current residents included in the quantitative chart assessment, 6 (30%) residents completed a FW’s document. Fifty residents were admitted during the project span and 21 (42%) of them completed FW’s.
Conclusions The FW’s completion rates were lower than expected. None of the residents had an AD more detailed than a basic full code or do not resuscitate (DNR) status before being informed of FW’s. It is recommended that the facility social workers would have implemented the intervention to increase the likelihood of adherence
PNPLA3 variants specifically confer increased risk for histologic nonalcoholic fatty liver disease but not metabolic disease. Hepatology 52:904–912
No full textSingle nucleotide polymorphisms (SNPs) near 7 loci have been associated with liver function tests or with liver steatosis by magnetic resonance spectroscopy. In this study we aim to test whether these SNPs influence the risk of histologically-confirmed nonalcoholic fatty liver disease (NAFLD). We tested the association of histologic NAFLD with SNPs at 7 loci in 592 cases of European ancestry from the Nonalcoholic Steatohepatitis Clinical Research Network and 1405 ancestry-matched controls. The G allele of rs738409 in PNPLA3 was associated with increased odds of histologic NAFLD (odds ratio [OR] 5 3.26, 95% confidence intervals [CI] 5 2.11-7.21; P 5 3.6 3 10 243 ). In a case only analysis of G allele of rs738409 in PNPLA3 was associated with a decreased risk of zone 3 centered steatosis (OR 5 0.46, 95% CI 5 0.36-0.58; P 5 5.15 3 10 211 ). We did not observe any association of this variant with body mass index, triglyceride levels, high-and low-density lipoprotein levels, or diabetes (P > 0.05). None of the variants at the other 6 loci were associated with NAFLD. Conclusion: Genetic variation at PNPLA3 confers a markedly increased risk of increasingly severe histological features of NAFLD, without a strong effect on metabolic syndrome component traits. (HEPATOLOGY 2010;52:904-912) See Editorial on Page 807 N onalcoholic fatty liver disease (NAFLD) is a common cause of chronic liver disease. It is frequently associated with obesity, insulin resistance and features of the metabolic syndrome. 1,2 The histologic phenotype of NAFLD extends from fatty liver to steatohepatitis
PNPLA3variants specifically confer increased risk for histologic nonalcoholic fatty liver disease but not metabolic disease
No full textDiscerning the Ancestry of European Americans in Genetic Association Studies
No full textEuropean Americans are often treated as a homogeneous group, but in fact form a structured population due to historical immigration of diverse source populations. Discerning the ancestry of European Americans genotyped in association studies is important in order to prevent false-positive or false-negative associations due to population stratification and to identify genetic variants whose contribution to disease risk differs across European ancestries. Here, we investigate empirical patterns of population structure in European Americans, analyzing 4,198 samples from four genome-wide association studies to show that components roughly corresponding to northwest European, southeast European, and Ashkenazi Jewish ancestry are the main sources of European American population structure. Building on this insight, we constructed a panel of 300 validated markers that are highly informative for distinguishing these ancestries. We demonstrate that this panel of markers can be used to correct for stratification in association studies that do not generate dense genotype data
The association of a SNP upstream of INSIG2 with body mass index is reproduced in several but not all cohorts
No full textA SNP upstream of the INSIG2 gene, rs7566605, was recently found to be associated with obesity as measured by body mass index (BMI) by Herbert and colleagues. The association between increased BMI and homozygosity for the minor allele was first observed in data from a genome-wide association scan of 86,604 SNPs in 923 related individuals from the Framingham Heart Study offspring cohort. The association was reproduced in four additional cohorts, but was not seen in a fifth cohort. To further assess the general reproducibility of this association, we genotyped rs7566605 in nine large cohorts from eight populations across multiple ethnicities (total n = 16,969). We tested this variant for association with BMI in each sample under a recessive model using family-based, population-based, and case-control designs. We observed a significant (p < 0.05) association in five cohorts but saw no association in three other cohorts. There was variability in the strength of association evidence across examination cycles in longitudinal data from unrelated individuals in the Framingham Heart Study Offspring cohort. A combined analysis revealed significant independent validation of this association in both unrelated (p = 0.046) and family-based (p = 0.004) samples. The estimated risk conferred by this allele is small, and could easily be masked by small sample size, population stratification, or other confounders. These validation studies suggest that the original association is less likely to be spurious, but the failure to observe an association in every data set suggests that the effect of SNP rs7566605 on BMI may be heterogeneous across population samples
Correction: Neural correlates of automatic emotion regulation and their association with suicidal ideation in adolescents during the first 90-days of residential care
No full textCorrection to: Translational Psychiatry 10.1038/s41398-023-02723-9, published online 23 January 2024
In this article, the affiliation details for Author Sahil Bajaj were incorrectly given as “Department of Cancer Systems Imaging, MD Anderson Center, South Campus Research Bldg, Houston, TX, USA”
but should have been “Department of Cancer Systems Imaging, MD Anderson Cancer Center, Houston, TX, USA”
The original article has been corrected
Association of Linear Growth Impairment in Pediatric Crohn's Disease and a Known Height Locus: A Pilot Study
No full textThe etiology of growth impairment in Crohn's disease (CD) has been inadequately explained by nutritional, hormonal, and/or disease-related factors, suggesting that genetics may be an additional contributor. The aim of this cross-sectional study was to investigate genetic variants associated with linear growth in pediatric-onset CD. We genotyped 951 subjects (317 CD patient-parent trios) for 64 polymorphisms within 14 CD-susceptibility and 23 stature-associated loci. Patient height-for-age Z-score < -1.64 was used to dichotomize probands into growth-impaired and nongrowth-impaired groups. The transmission disequilibrium test (TDT) was used to study association to growth impairment. There was a significant association between growth impairment in CD (height-for-age Z-score < -1.64) and a stature-related polymorphism in the dymeclin gene DYM (rs8099594) (OR = 3.2, CI [1.57-6.51], p = 0.0007). In addition, there was nominal over-transmission of two CD-susceptibility alleles, 10q21.1 intergenic region (rs10761659) and ATG16L1 (rs10210302), in growth-impaired CD children (OR = 2.36, CI [1.26-4.41] p = 0.0056 and OR = 2.45, CI [1.22-4.95] p = 0.0094, respectively). Our data indicate that genetic influences due to stature-associated and possibly CD risk alleles may predispose CD patients to alterations in linear growth. This is the first report of a link between a stature-associated locus and growth impairment in CD. © 2010 The Authors Annals of Human Genetic
Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits
No full textNonalcoholic fatty liver disease (NAFLD) clusters in families, but the only known common genetic variants influencing risk are near PNPLA3. We sought to identify additional genetic variants influencing NAFLD using genome-wide association (GWA) analysis of computed tomography (CT) measured hepatic steatosis, a non-invasive measure of NAFLD, in large population based samples. Using variance components methods, we show that CT hepatic steatosis is heritable (∼26%-27%) in family-based Amish, Family Heart, and Framingham Heart Studies (n = 880 to 3,070). By carrying out a fixed-effects meta-analysis of genome-wide association (GWA) results between CT hepatic steatosis and ∼2.4 million imputed or genotyped SNPs in 7,176 individuals from the Old Order Amish, Age, Gene/Environment Susceptibility-Reykjavik study (AGES), Family Heart, and Framingham Heart Studies, we identify variants associated at genome-wide significant levels (p<5×10(-8)) in or near PNPLA3, NCAN, and PPP1R3B. We genotype these and 42 other top CT hepatic steatosis-associated SNPs in 592 subjects with biopsy-proven NAFLD from the NASH Clinical Research Network (NASH CRN). In comparisons with 1,405 healthy controls from the Myocardial Genetics Consortium (MIGen), we observe significant associations with histologic NAFLD at variants in or near NCAN, GCKR, LYPLAL1, and PNPLA3, but not PPP1R3B. Variants at these five loci exhibit distinct patterns of association with serum lipids, as well as glycemic and anthropometric traits. We identify common genetic variants influencing CT-assessed steatosis and risk of NAFLD. Hepatic steatosis associated variants are not uniformly associated with NASH/fibrosis or result in abnormalities in serum lipids or glycemic and anthropometric traits, suggesting genetic heterogeneity in the pathways influencing these traits
Fine mapping of the association with obesity at the FTO locus in African-derived populations
No full textGenome-wide association studies have identified many common genetic variants that are associated with polygenic traits, and have typically been performed with individuals of recent European ancestry. In these populations, many common variants are tightly correlated, with the perfect or near-perfect proxies for the functional or true variant showing equivalent evidence of association, considerably limiting the resolution of fine mapping. Populations with recent African ancestry often have less extensive and/or different patterns of linkage disequilibrium (LD), and have been proposed to be useful in fine-mapping studies. Here, we strongly replicate and fine map in populations of predominantly African ancestry the association between variation at the FTO locus and body mass index (BMI) that is well established in populations of European ancestry. We genotyped single nucleotide polymorphisms that are correlated with the signal of association in individuals of European ancestry but that have varying degrees of correlation in African-derived individuals. Most of the variants, including one previously proposed as functionally important, have no significant association with BMI, but two variants, rs3751812 and rs9941349, show strong evidence of association (P = 2.58 × 10-6 and 3.61 × 10-6 in a meta-analysis of 9881 individuals). Thus, we have both strongly replicated this association in African-ancestry populations and narrowed the list of potentially causal variants to those that are correlated with rs3751812 and rs9941349 in African-derived populations. This study illustrates the potential of using populations with different LD patterns to fine map associations and helps pave the way for genetically guided functional studies at the FTO locus. © The Author 2010. Published by Oxford University Press. All rights reserved. For Permissions, please email: [email protected]
