63 research outputs found
Racial variation in vitamin D cord blood concentration in white and black male neonates
Aim: The aim of this study is to evaluate racial variation in umbilical cord blood concentration of vitamin D and to explore its correlation with markers of the insulin-like growth factor axis (IGFs) and sex steroid hormones in white and black male neonates. Methods: In 2004-2005, venous umbilical cord blood samples were collected from 75 black and 38 white male neonates, along with maternal and birth characteristics from two hospitals in Maryland, United States. 25-Hydroxyvitamin D [25(OH)D] and 1,25-dihydroxyvitamin D [1,25(OH)2D] were measured by radioimmunoassay and testosterone, estradiol, and sex hormone-binding globulin (SHBG) by immunoassay and IGF-1, IGF-2, and IGF-binding protein-3 by ELISA. Crude and multivariable-adjusted geometric mean concentrations were computed. Results: Mean 25(OH)D levels were lower in black than in white neonates (11.44; 95% CI 10.10-12.95ng/mL vs. 18.24; 95% CI 15.32-21.72ng/mL; p<0.0001). Black neonates were at higher risk of suboptimal vitamin D levels [25(OH)D<20ng/mL] than whites (84 vs. 63%). 25(OH)D concentrations varied by season in whites but not in blacks and were significantly inversely correlated with mother's parity (number of live births) in blacks but not in whites. Mean concentration of 1,25(OH)2D did not differ by race. 25(OH)D and 1,25(OH)2D did not correlate with IGFs, sex steroid hormones, and SHBG. Conclusions: Suboptimal vitamin D levels were prevalent especially in blacks and influenced by mother's parity and by season. The observed vitamin D differences between black and white neonates warrant further evaluation of the etiology of the disparity in chronic diseases in adulthoo
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Copy Number Variation at the APOL1 Locus
Two coding variants in the APOL1 gene (G1 and G2) explain most of the high rate of kidney disease in African Americans. APOL1-associated kidney disease risk inheritance follows an autosomal recessive pattern: The relative risk of kidney disease associated with inheritance of two high-risk variants is 7â30 fold, depending on the specific kidney phenotype. We wished to determine if the variability in phenotype might in part reflect structural differences in APOL1 gene. We analyzed sequence coverage from 1000 Genomes Project Phase 3 samples as well as exome sequencing data from African American kidney disease cases for copy number variation. 8 samples sequenced in the 1000 Genomes Project showed increased coverage over a ~100kb region that includes APOL2, APOL1 and part of MYH9, suggesting the presence of APOL1 copy number greater than 2. We reasoned that such duplications should be enriched in apparent G1 heterozygotes with kidney disease. Using a PCR-based assay, we observed the presence of this duplication in additional samples from apparent G0G1 or G0G2 individuals. The frequency of this APOL1 duplication was compared among cases (n = 123) and controls (n = 255) with apparent G0G1 heterozygosity. The presence of APOL1 duplication was observed in 4.06% of cases and 0.78% controls, preliminary evidence that this APOL1 duplication may alter susceptibility to kidney disease (p = 0.03). Taqman-based copy number assays confirmed the presence of 3 APOL1 copies in individuals positive for this specific duplication by PCR assay, but also identified a small number of individuals with additional APOL1 copies of presumably different structure. These observations motivate further studies to better assess the contribution of APOL1 copy number on kidney disease risk and on APOL1 function. Investigators and clinicians genotyping APOL1 should also consider whether the particular genotyping platform used is subject to technical errors when more than two copies of APOL1 are present
Podocyte-Specific Overexpression of Wild Type or Mutant Trpc6 in Mice Is Sufficient to Cause Glomerular Disease
Mutations in the TRPC6 calcium channel (Transient receptor potential channel 6) gene have been associated with familiar forms of Focal and Segmental Glomerulosclerosis (FSGS) affecting children and adults. In addition, acquired glomerular diseases are associated with increased expression levels of TRPC6. However, the exact role of TRPC6 in the pathogenesis of FSGS remains to be elucidated. In this work we describe the generation and phenotypic characterization of three different transgenic mouse lines with podocyte-specific overexpression of the wild type or any of two mutant forms of Trpc6 (P111Q and E896K) previously related to FSGS. Consistent with the human phenotype a non-nephrotic range of albuminuria was detectable in almost all transgenic lines. The histological analysis demonstrated that the transgenic mice developed a kidney disease similar to human FSGS. Differences of 2â3 folds in the presence of glomerular lesions were found between the non transgenic and transgenic mice expressing Trpc6 in its wild type or mutant forms specifically in podocytes. Electron microscopy of glomerulus from transgenic mice showed extensive podocyte foot process effacement. We conclude that overexpression of Trpc6 (wild type or mutated) in podocytes is sufficient to cause a kidney disease consistent with FSGS. Our results contribute to reinforce the central role of podocytes in the etiology of FSGS. These mice constitute an important new model in which to study future therapies and outcomes of this complex disease
Correction to: Cluster identification, selection, and description in Cluster randomized crossover trials: the PREP-IT trials
An amendment to this paper has been published and can be accessed via the original article
Vad pÄverkar ungdomars sjÀlvbild? En enkÀtstudie som studerar relationen mellan massmedia, motionsvanor och sjÀlvbilden bland gymnasieungdomar
Att vara vacker och smal Àr ett modernt skönhetsideal. Massmedia har kommit att spela en grundlÀggande roll i det moderna samhÀllet. StÀndigt pÄminns individen om idealet via bilder av vackra och smala mÀnniskor. Begreppet sjÀlvbild Àr omfattande, och en mÀnniskas sjÀlvbild Àr sammansatt av mÄnga faktorer sÄsom vissa individuella drag i utseendet, sÀrskilda karaktÀrsegenskaper och tidiga livserfarenheter. Barns arbete med att hitta sig sjÀlva i tillvaron börjar sÄ fort de fötts. Under tonÄren Àr individen sÀrskilt sÄrbar, eftersom det Àr under den hÀr perioden som individen söker sin identitet. Syftet med studien var att studera om pÄverkan frÄn massmedia samt motionsvanor relaterar till ungdomars sjÀlvbild avseende den egna kroppen. Vi valde att genomföra en enkÀtstudie bland elever i Ärskurs 1 pÄ gymnasiet, dÀr 126 elever besvarade enkÀten. Ett hÀpnadsvÀckande resultat var att de som tittade mer pÄ TV var mer nöjda med sitt liv i olika avseenden. Resultatet i den hÀr studien visade Àven att det inte fanns lika stor relation mellan pÄverkan frÄn massmedia och respondenternas sjÀlvbild som tidigare studier har visat. En tÀnkbar anledning till det hÀr resultatet kan vara att majoriteten av respondenterna bestod av pojkar medan mycket av tidigare forskning Àr gjord pÄ flickor. Slutsatsen av den hÀr studien Àr att det behövs mer forskning pÄ pojkars sjÀlvbild kopplat till massmedias pÄverkan samt att skolan Àr en viktig arena att arbeta för att stÀrka individens kritiska tÀnkande kring massmedias budskap
Vad pÄverkar ungdomars sjÀlvbild? En enkÀtstudie som studerar relationen mellan massmedia, motionsvanor och sjÀlvbilden bland gymnasieungdomar
Att vara vacker och smal Àr ett modernt skönhetsideal. Massmedia har kommit att spela en grundlÀggande roll i det moderna samhÀllet. StÀndigt pÄminns individen om idealet via bilder av vackra och smala mÀnniskor. Begreppet sjÀlvbild Àr omfattande, och en mÀnniskas sjÀlvbild Àr sammansatt av mÄnga faktorer sÄsom vissa individuella drag i utseendet, sÀrskilda karaktÀrsegenskaper och tidiga livserfarenheter. Barns arbete med att hitta sig sjÀlva i tillvaron börjar sÄ fort de fötts. Under tonÄren Àr individen sÀrskilt sÄrbar, eftersom det Àr under den hÀr perioden som individen söker sin identitet. Syftet med studien var att studera om pÄverkan frÄn massmedia samt motionsvanor relaterar till ungdomars sjÀlvbild avseende den egna kroppen. Vi valde att genomföra en enkÀtstudie bland elever i Ärskurs 1 pÄ gymnasiet, dÀr 126 elever besvarade enkÀten. Ett hÀpnadsvÀckande resultat var att de som tittade mer pÄ TV var mer nöjda med sitt liv i olika avseenden. Resultatet i den hÀr studien visade Àven att det inte fanns lika stor relation mellan pÄverkan frÄn massmedia och respondenternas sjÀlvbild som tidigare studier har visat. En tÀnkbar anledning till det hÀr resultatet kan vara att majoriteten av respondenterna bestod av pojkar medan mycket av tidigare forskning Àr gjord pÄ flickor. Slutsatsen av den hÀr studien Àr att det behövs mer forskning pÄ pojkars sjÀlvbild kopplat till massmedias pÄverkan samt att skolan Àr en viktig arena att arbeta för att stÀrka individens kritiska tÀnkande kring massmedias budskap
Crime in the News: How Crimes, Offenders and Victims are Portrayed in the Media
This study examines the representation of crime stories in the news. Using 71 matched pairs, we examine the constructed elements in the reporting of crime stories between newspapers and local television to document similarities and differences across the mediums. Although considerable work has been devoted to discerning differences in reporting across types of media, little research has investigated how the same crime story âgets toldâ in one medium compared to another. With matched-pairs of stories, we are able to do this. In this study, we also use content analysis to examine a subset of cases that focus on juveniles to ascertain how atypical victims and offenders are portrayed in the media. Although youth are much less likely to commit crime and to be victimized compared to adults, their stories are disproportionately âthe stuff of news.â Collectively, the findings indicate that news reporting follows the law of oppositesâthe characteristics of crime, criminals, and victims represented in the media are in most respects the polar opposite of the pattern suggested by official crime statistics. This was especially the case in news reports involving juvenile victims and offenders
Crime in the News: How Crimes, Offenders and Victims are Portrayed in the Media
This study examines the representation of crime stories in the news. Using 71 matched pairs, we examine the constructed elements in the reporting of crime stories between newspapers and local television to document similarities and differences across the mediums. Although considerable work has been devoted to discerning differences in reporting across types of media, little research has investigated how the same crime story âgets toldâ in one medium compared to another. With matched-pairs of stories, we are able to do this. In this study, we also use content analysis to examine a subset of cases that focus on juveniles to ascertain how atypical victims and offenders are portrayed in the media. Although youth are much less likely to commit crime and to be victimized compared to adults, their stories are disproportionately âthe stuff of news.â Collectively, the findings indicate that news reporting follows the law of oppositesâthe characteristics of crime, criminals, and victims represented in the media are in most respects the polar opposite of the pattern suggested by official crime statistics. This was especially the case in news reports involving juvenile victims and offenders
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