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Search Results for all work with filters:

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Work 1-10 of 134

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Article

Fetal death certificate data quality: a tale of two US counties

by Lauren Christiansen-Lindquist; Carol J Hogue; Robert M. Silver; Corette B. Parker; Donald J. Dudley; Matthew A. Koch; Uma M. Reddy; George R. Saade; Robert L. Goldenberg

2017

Subjects
  • Health Sciences, Public Health
  • Health Sciences, Medicine and Surgery
  • Health Sciences, Obstetrics and Gynecology
  • File Download
  • View Abstract

Abstract:Close

Purpose: Describe the relative frequency and joint effect of missing and misreported fetal death certificate (FDC) data and identify variations by key characteristics. Methods: Stillbirths were prospectively identified during 2006-2008 for a multisite population-based case-control study. For this study, eligible mothers of stillbirths were not incarcerated residents of DeKalb County, Georgia, or Salt Lake County, Utah, aged ≥13 years, with an identifiable FDC. We identified the frequency of missing and misreported (any departure from the study value) FDC data by county, race/ethnicity, gestational age, and whether the stillbirth was antepartum or intrapartum. Results: Data quality varied by item and was highest in Salt Lake County. Reporting was generally not associated with maternal or delivery characteristics. Reasons for poor data quality varied by item in DeKalb County: some items were frequently missing and misreported; however, others were of poor quality due to either missing or misreported data. Conclusions: FDC data suffer from missing and inaccurate data, with variations by item and county. Salt Lake County data illustrate that high quality reporting is attainable. The overall quality of reporting must be improved to support consequential epidemiologic analyses for stillbirth, and improvement efforts should be tailored to the needs of each jurisdiction.

Article

Maternal intake of vitamin E and birth defects, national birth defects prevention study, 1997 to 2005

by Suzanne M. Gilboa; Kyung A. Lee; Mary E. Cogswell; Flavia K. Traven; Lorenzo D. Botto; Tiffany Riehle-Colarusso; Adolfo Correa; Coleen A. Boyle

2014

Subjects
  • Health Sciences, Public Health
  • Health Sciences, Medicine and Surgery
  • Health Sciences, Human Development
  • File Download
  • View Abstract

Abstract:Close

BACKGROUND In a recent study, high maternal periconceptional intake of vitamin E was found to be associated with risk of congenital heart defects (CHDs). To explore this association further, we investigated the association between total daily vitamin E intake and selected birth defects. METHODS: We analyzed data from 4525 controls and 8665 cases from the 1997 to 2005 National Birth Defects Prevention Study. We categorized estimated periconceptional energy-adjusted total daily vitamin E intake from diet and supplements into quartiles (referent, lowest quartile). Associations between quartiles of energy-adjusted vitamin E intake and selected birth defects were adjusted for demographic, lifestyle, and nutritional factors. RESULTS: We observed a statistically significant association with the third quartile of vitamin E intake (odds ratio [OR], 1.17; 95% confidence interval [CI], 1.01-1.35) and all CHDs combined. Among CHD sub-types, we observed associations with left ventricular outflow tract obstruction defects, and its sub-type, coarctation of the aorta and the third quartile of vitamin E intake. Among defects other than CHDs, we observed associations between anorectal atresia and the third quartile of vitamin E intake (OR, 1.66; 95% CI, 1.01-2.72) and hypospadias and the fourth quartile of vitamin E intake (OR, 1.42; 95% CI, 1.09-1.87). CONCLUSION: Selected quartiles of energy-adjusted estimated total daily vitamin E intake were associated with selected birth defects. However, because these few associations did not exhibit exposure-response patterns consistent with increasing risk associated with increasing intake of vitamin E, further studies are warranted to corroborate our findings.

Article

Effect of congenital heart defects on language development in toddlers with Down syndrome

by Jeannie Visootsak; B. Hess; R. Bakeman; L. B. Adamson

2013

Subjects
  • Language, General
  • Psychology, Developmental
  • Health Sciences, General
  • View on PubMed Central
  • View Abstract

Abstract:Close

Background Down syndrome (DS, OMIM #190685) is the most commonly identified genetic form of intellectual disability with congenital heart defect (CHD) occurring in 50% of cases. With advances in surgical techniques and an increasing lifespan, this has necessitated a greater understanding of the neurodevelopmental consequences of CHDs. Herein, we explore the impact of CHD on language development in children with DS. Methods Twenty-nine children with DS were observed systematically in parent–child interactions using the Communication Play Protocol to evaluate their language use; they also completed the Mullen Scales of Early Learning and MacArthur Communication Development Inventory. Mean ages were 31.2 months for children with DS and CHD (DS + CHD, n = 12) and 32.1 months for children with DS and a structurally normal heart (DS − CHD, n = 17). Results Compared with the DS − CHD controls, the DS + CHD group revealed lower scores in multiple areas, including fine motor skills and expressive and receptive vocabulary. Whereas most differences were not statistically significant, the Communication Development Inventory word count and symbol-infused joint engagement differed significantly (P < 0.01) and marginally (P = 0.09) between groups. Conclusions Finding that CHDs may account for part of the variation in language delay allows us to consider the specific mechanisms underlying the impact of CHDs on language acquisition in children with DS. Conclusions from this first study on early language outcomes of children with DS + CHD may be useful for clinicians in providing developmental surveillance and early intervention programmes with specific emphasis on language therapy as part of long-term follow-up for children with DS + CHD.

Article

Lack of maternal folic acid supplementation is associated with heart defects in Down syndrome: a report from the National Down Syndrome Project

by Lora J. H. Bean; Emily Graves Allen; Stuart W. Tinker; NaTasha D. Hollis; Adam E. Locke; Charlotte Druschel; Charlotte A. Hobbs; Leslie O’Leary; Paul A. Romitti; Marjorie H. Royle; Claudine P. Torfs; Kenneth J Dooley; Sallie Boineau Freeman; Stephanie Sherman

2011

Subjects
  • Biology, Genetics
  • File Download
  • View on PubMed Central
  • View Abstract

Abstract:Close

BACKGROUND Maternal folic acid supplementation has been associated with a reduced risk for neural tube defects, and may be associated with a reduced risk for congenital heart defects, and other birth defects. Individuals with Down syndrome are at high risk for congenital heart defects and have been shown to have abnormal folate metabolism. METHODS As part of the population-based case-control National Down Syndrome Project, 1011 mothers of infants with Down syndrome reported their use of folic acid-containing supplements. These data were used to determine whether lack of periconceptional maternal folic acid supplementation is associated with congenital heart defects in Down syndrome. We used logistic regression to test the relationship between maternal folic acid supplementation and the frequency of specific heart defects correcting for maternal race/ethnicity, proband sex, maternal use of alcohol and cigarettes, and maternal age at conception. RESULTS Lack of maternal folic acid supplementation was more frequent among infants with Down syndrome and atrioventricular septal defects (OR=1.69; 95% CI, 1.08–2.63; P=0.011) or atrial septal defects (OR=1.69; 95% CI, 1.11–2.58; P=0.007) than among infants with Down syndrome and no heart defect. Preliminary evidence suggests that the patterns of association differ by race/ethnicity and sex of the proband. There was no statistically significant association with ventricular septal defects (OR=1.26; 95% CI, 0.85–1.87; P=0.124). CONCLUSIONS Our results suggest that lack of maternal folic acid supplementation is associated with septal defects in infants with Down syndrome.

Article

A neurogenetic model for the study of schizophrenia spectrum disorders: the International 22q11.2 Deletion Syndrome Brain Behavior Consortium

by Raquel E. Gur; Anne S. Bassett; DM McDonald-McGinn; CE Bearden; E Chow; BS Emanuel; M Owen; A Swillen; M Van den Bree; J Vermeesch; JAS Vorstman; Stephen Warren; T Lehner; B Morrow

2017

Subjects
  • Biology, Neuroscience
  • Psychology, Clinical
  • Psychology, Cognitive
  • File Download
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Abstract:Close

Rare copy number variants contribute significantly to the risk for schizophrenia, with the 22q11.2 locus consistently implicated. Individuals with the 22q11.2 deletion syndrome (22q11DS) have an estimated 25-fold increased risk for schizophrenia spectrum disorders, compared to individuals in the general population. The International 22q11DS Brain Behavior Consortium is examining this highly informative neurogenetic syndrome phenotypically and genomically. Here we detail the procedures of the effort to characterize the neuropsychiatric and neurobehavioral phenotypes associated with 22q11DS, focusing on schizophrenia and subthreshold expression of psychosis. The genomic approach includes a combination of whole-genome sequencing and genome-wide microarray technologies, allowing the investigation of all possible DNA variation and gene pathways influencing the schizophrenia-relevant phenotypic expression. A phenotypically rich data set provides a psychiatrically well-characterized sample of unprecedented size (n=1616) that informs the neurobehavioral developmental course of 22q11DS. This combined set of phenotypic and genomic data will enable hypothesis testing to elucidate the mechanisms underlying the pathogenesis of schizophrenia spectrum disorders.

Article

Dynamics of Survival of Motor Neuron (SMN) Protein Interaction with the mRNA-Binding Protein IMP1 Facilitates Its Trafficking into Motor Neuron Axons

by Claudia Fallini; Jeremy P. Rouanet; Paul G. Donlin-Asp; Peng Guo; Honglai Zhang; Robert H. Singer; Wilfried Rossoll; Gary Bassell

2014

Subjects
  • Biology, Neuroscience
  • Biology, Cell
  • File Download
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Abstract:Close

Spinal muscular atrophy (SMA) is a lethal neurodegenerative disease specifically affecting spinal motor neurons. SMA is caused by the homozygous deletion or mutation of the survival of motor neuron 1 (SMN1) gene. The SMN protein plays an essential role in the assembly of spliceosomal ribonucleoproteins. However, it is still unclear how low levels of the ubiquitously expressed SMN protein lead to the selective degeneration of motor neurons. An additional role for SMN in the regulation of the axonal transport of mRNA-binding proteins (mRBPs) and their target mRNAs has been proposed. Indeed, several mRBPs have been shown to interact with SMN, and the axonal levels of few mRNAs, such as the β-actin mRNA, are reduced in SMA motor neurons. In this study we have identified the β-actin mRNA-binding protein IMP1/ZBP1 as a novel SMN-interacting protein. Using a combination of biochemical assays and quantitative imaging techniques in primary motor neurons, we show that IMP1 associates with SMN in individual granules that are actively transported in motor neuron axons. Furthermore, we demonstrate that IMP1 axonal localization depends on SMN levels, and that SMN deficiency in SMA motor neurons leads to a dramatic reduction of IMP1 protein levels. In contrast, no difference in IMP1 protein levels was detected in whole brain lysates from SMA mice, further suggesting neuron specific roles of SMN in IMP1 expression and localization. Taken together, our data support a role for SMN in the regulation of mRNA localization and axonal transport through its interaction with mRBPs such as IMP1.

Article

Novel Lipid Signaling Mediators for Mesenchymal Stem Cell Mobilization During Bone Repair

by Jada M. Selma; Anusuya Das; Anthony O. Awojoodu; Tiffany Wang; Anjan P. Kaushik; Quanjun Cui; Hannah Song; Molly E. Ogle; Claire E. Olingy; Emily G. Pendleton; Kayvan F. Tehrani; Luke J. Mortensen; Edward Botchwey

2018

Subjects
  • Engineering, Biomedical
  • Health Sciences, Medicine and Surgery
  • Biology, Cell
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Introduction: Mesenchymal stem and progenitor cells (MSCs), which normally reside in the bone marrow, are critical to bone health and can be recruited to sites of traumatic bone injury, contributing to new bone formation. The ability to control the trafficking of MSCs provides therapeutic potential for improving traumatic bone healing and therapy for genetic bone diseases such as hypophosphatasia. Methods: In this study, we explored the sphingosine-1-phosphate (S1P) signaling axis as a means to control the mobilization of MSCs into blood and possibly to recruit MSCs for enhancing bone growth. Results: Loss of S1P receptor 3 (S1PR3) leads to an increase in circulating CD45−/CD29+/CD90+/Sca1+ putative mesenchymal progenitor cells, suggesting that blocking S1PR3 may stimulate MSCs to leave the bone marrow. Antagonism of S1PR3 with the small molecule VPC01091 stimulated acute migration of CD45−/CD29+/CD90+/Sca1+ MSCs into the blood as early as 1.5 h after treatment. VPC01091 administration also increased ectopic bone formation induced by BMP-2 and significantly increased new bone formation in critically sized rat cranial defects, suggesting that mobilized MSCs may home to injuries to contribute to healing. We also explored the possibility of combining S1P manipulation of endogenous host cell occupancy with exogenous MSC transplantation for potential use in combination therapies. Importantly, reducing niche occupancy of host MSCs with VPC01091 does not impede engraftment of exogenous MSCs. Conclusions: Our studies suggest that MSC mobilization through S1PR3 antagonism is a promising strategy for endogenous tissue engineering and improving MSC delivery to treat bone diseases.

Article

Hydrolysis and sulfation pattern effects on release of bioactive bone morphogenetic protein-2 from heparin-based microparticles

by Liane E. Tellier; Tobias Miller; Todd C. McDevitt; Johnna Temenoff

2015

Subjects
  • Engineering, Biomedical
  • Engineering, Materials Science
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Glycosaminoglycans (GAGs) such as heparin are promising materials for growth factor delivery due to their ability to efficiently bind positively charged growth factors including bone morphogenetic protein-2 (BMP-2) through their negatively charged sulfate groups. Therefore, the goal of this study was to examine BMP-2 release from heparin-based microparticles (MPs) after first, incorporating a hydrolytically degradable crosslinker and varying heparin content within MPs to alter MP degradation and second, altering the sulfation pattern of heparin within MPs to vary BMP-2 binding and release. Using varied MP formulations, it was found that the time course of MP degradation for 1 wt% heparin MPs was ∼4 days slower than 10 wt% heparin MPs, indicating that MP degradation was dependent on heparin content. After incubating 100 ng BMP-2 with 0.1 mg MPs, most MP formulations loaded BMP-2 with ∼50% efficiency and significantly more BMP-2 release (60% of loaded BMP-2) was observed from more sulfated heparin MPs (MPs with ∼100% and 80% of native sulfation). Similarly, BMP-2 bioactivity in more sulfated heparin MP groups was at least four-fold higher than soluble BMP-2 and less sulfated heparin MP groups, as determined by an established C2C12 cell alkaline phosphatase (ALP) assay. Ultimately, the two most sulfated 10 wt% heparin MP formulations were able to efficiently load and release BMP-2 while enhancing BMP-2 bioactivity, making them promising candidates for future growth factor delivery applications.

Article

Genome-wide association study of down syndrome-associated atrioventricular septal defects

by Dhanya Ramachandran; Zhen Zeng; Adam E. Locke; Jennifer Mulle; Lora Bean; Tracie Rosser; Kenneth Dooley; Clifford L. Cua; George T. Capone; Roger H. Reeves; Cheryl L. Maslen; David Cutler; Eleanor Feingold; Stephanie Sherman; Michael Zwick

2015

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The goal of this study was to identify the contribution of common genetic variants to Down syndrome2associated atrioventricular septal defect, a severe heart abnormality. Compared with the euploid population, infants with Down syndrome, or trisomy 21, have a 2000-fold increased risk of presenting with atrioventricular septal defects. The cause of this increased risk remains elusive. Here we present data from the largest heart study conducted to date on a trisomic background by using a carefully characterized collection of individuals from extreme ends of the phenotypic spectrum. We performed a genome-wide association study using logistic regression analysis on 452 individuals with Down syndrome, consisting of 210 cases with complete atrioventricular septal defects and 242 controls with structurally normal hearts. No individual variant achieved genome-wide significance. We identified four disomic regions (1p36.3, 5p15.31, 8q22.3, and 17q22) and two trisomic regions on chromosome 21 (around PDXK and KCNJ6 genes) that merit further investigation in large replication studies. Our data show that a few common genetic variants of large effect size (odds ratio >2.0) do not account for the elevated risk of Down syndrome2associated atrioventricular septal defects. Instead, multiple variants of low-to-moderate effect sizes may contribute to this elevated risk, highlighting the complex genetic architecture of atrioventricular septal defects even in the highly susceptible Down syndrome population.

Article

Serum Endotoxins and Flagellin and Risk of Colorectal Cancer in the European Prospective Investigation into Cancer and Nutrition (EPIC) Cohort

by So Yeon Kong; Hao Quang Tran; Andrew Gewirtz; Gail McKeown-Eyssen; Veronika Fedirko; Isabelle Romieu; Anne Tjonneland; Anja Olsen; Kim Overvad; Marie-Christine Boutron-Ruault; Nadia Bastide; Aurelie Affret; Tilman Kuhn ; Rudolf Kaaks; Heiner Boeing; Krasimira Aleksandrova; Antonia Trichipoulou; Maria Kritikou; Effie Vasilopoulou; Domenico Palli; Vittorio Krogh; Amalia Mattiello; Rosario Tumino; Alessio Naccarati; H. Bas Bueno-de-Mesquita; Petra H. Peeters; Elisabete Weiderpass; J. Ramon Quiros; Nuria Sala; Maria-Jose Sanchez; Jose Maria Huerta Castano; Aurelio Barricarte; Miren Dorronsoro; Marten Werner ; Nicholas J. Wareham; Kay-Tee Khaw; Kathryn E. Bradbury; Heinz Freisling; Faidra Stavropoulou; Pietro Ferrari; Marc J. Gunter; Amanda J. Cross ; Elio Riboli; W. Robert Bruce; Mazda Jenab

2016

Subjects
  • Health Sciences, Oncology
  • Health Sciences, Nutrition
  • Health Sciences, Public Health
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Background: Chronic inflammation and oxidative stress are thought to be involved in colorectal cancer development. These processes may contribute to leakage of bacterial products, such as lipopolysaccharide (LPS) and flagellin, across the gut barrier. The objective of this study, nested within a prospective cohort, was to examine associations between circulating LPS and flagellin serum antibody levels and colorectal cancer risk. Methods: A total of 1,065 incident colorectal cancer cases (colon, n = 667; rectal, n = 398) were matched (1:1) to control subjects. Serum flagellin- and LPS-specific IgA and IgG levels were quantitated by ELISA. Multivariable conditional logistic regression models were used to calculate ORs and 95% confidence intervals (CI), adjusting for multiple relevant confouding factors. Results: Overall, elevated anti-LPS and anti-flagellin biomarker levels were not associated with colorectal cancer risk. After testing potential interactions by various factors relevant for colorectal cancer risk and anti-LPS and anti-flagellin, sex was identified as a statistically significant interaction factor (Pinteraction < 0.05 for all the biomarkers). Analyses stratified by sex showed a statistically significant positive colorectal cancer risk association for men (fully-adjusted OR for highest vs. lowest quartile for total anti- LPS flagellin, 1.66; 95% CI, 1.10-2.51; Ptrend, 0.049), whereas a borderline statistically significant inverse association was observed for women (fully-adjusted OR, 0.70; 95% CI, 0.47- 1.02; Ptrend, 0.18). Conclusion: In this prospective study on European populations, we found bacterial exposure levels to be positively associated to colorectal cancer risk among men, whereas in women, a possible inverse association may exist. Impact: Further studies are warranted to better clarify these preliminary observations.
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