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https://www.readbyqxmd.com/read/29756641/full-sequencing-and-haplotype-analysis-of-mapt-in-parkinson-s-disease-and-rapid-eye-movement-sleep-behavior-disorder
#1
Jiao Li, Jennifer A Ruskey, Isabelle Arnulf, Yves Dauvilliers, Michele T M Hu, Birgit Högl, Claire S Leblond, Sirui Zhou, Amirthagowri Ambalavanan, Jay P Ross, Cynthia V Bourassa, Dan Spiegelman, Sandra B Laurent, Ambra Stefani, Christelle Charley Monaca, Valérie Cochen De Cock, Michel Boivin, Luigi Ferini-Strambi, Giuseppe Plazzi, Elena Antelmi, Peter Young, Anna Heidbreder, Catherine Labbe, Tanis J Ferman, Patrick A Dion, Dongsheng Fan, Alex Desautels, Jean-François Gagnon, Nicolas Dupré, Edward A Fon, Jacques Y Montplaisir, Bradley F Boeve, Ronald B Postuma, Guy A Rouleau, Owen A Ross, Ziv Gan-Or
BACKGROUND: MAPT haplotypes are associated with PD, but their association with rapid eye movement sleep behavior disorder is unclear. OBJECTIVE: To study the role of MAPT variants in rapid eye movement sleep behavior disorder. METHODS: Two cohorts were included: (A) PD (n = 600), rapid eye movement sleep behavior disorder (n = 613) patients, and controls (n = 981); (B) dementia with Lewy bodies patients with rapid eye movement sleep behavior disorder (n = 271) and controls (n = 950)...
May 14, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29742975/one-stage-dose-response-meta-analysis-for-aggregated-data
#2
Alessio Crippa, Andrea Discacciati, Matteo Bottai, Donna Spiegelman, Nicola Orsini
The standard two-stage approach for estimating non-linear dose-response curves based on aggregated data typically excludes those studies with less than three exposure groups. We develop the one-stage method as a linear mixed model and present the main aspects of the methodology, including model specification, estimation, testing, prediction, goodness-of-fit, model comparison, and quantification of between-studies heterogeneity. Using both fictitious and real data from a published meta-analysis, we illustrated the main features of the proposed methodology and compared it to a traditional two-stage analysis...
January 1, 2018: Statistical Methods in Medical Research
https://www.readbyqxmd.com/read/29665810/correction-to-exome-sequencing-reveals-a-novel-plp1-mutation-in-a-moroccan-family-with-connatal-pelizaeus-merzbacher-disease-a-case-report
#3
Jaber Lyahyai, Bouchra Ouled Amar Bencheikh, Siham C Elalaoui, Maria Mansouri, Lamia Boualla, Alexandre DIonne-Laporte, Dan Spiegelman, Patrick A Dion, Patrick Cossette, Guy A Rouleau, Abdelaziz Sefiani
After publication of the original article [1] it was brought to our attention that author Bouchra Ouled Amar Bencheikh was incorrectly included as Bouchra Oulad Amar Bencheikh.
April 17, 2018: BMC Pediatrics
https://www.readbyqxmd.com/read/29656731/validity-of-an-ffq-to-measure-nutrient-and-food-intakes-in-tanzania
#4
Rachel M Zack, Kahema Irema, Patrick Kazonda, Germana H Leyna, Enju Liu, Susan Gilbert, Zohra Lukmanji, Donna Spiegelman, Wafaie Fawzi, Marina Njelekela, Japhet Killewo, Goodarz Danaei
OBJECTIVE: FFQ are often used to estimate food and nutrient intakes to rank individuals by their level of intake. We evaluated the relative validity of a semi-quantitative FFQ created for use in Tanzania by comparing it with two 24 h diet recalls. DESIGN: We measured relative validity of the FFQ with deattenuated energy-adjusted rank correlations for nutrients, deattenuated rank correlations for food groups, and performed a cross-classification analysis of energy-adjusted nutrient quartiles using percentage of agreement and Bland-Altman analysis...
April 16, 2018: Public Health Nutrition
https://www.readbyqxmd.com/read/29649218/global-characterization-of-copy-number-variants-in-epilepsy-patients-from-whole-genome-sequencing
#5
Jean Monlong, Simon L Girard, Caroline Meloche, Maxime Cadieux-Dion, Danielle M Andrade, Ron G Lafreniere, Micheline Gravel, Dan Spiegelman, Alexandre Dionne-Laporte, Cyrus Boelman, Fadi F Hamdan, Jacques L Michaud, Guy Rouleau, Berge A Minassian, Guillaume Bourque, Patrick Cossette
Epilepsy will affect nearly 3% of people at some point during their lifetime. Previous copy number variants (CNVs) studies of epilepsy have used array-based technology and were restricted to the detection of large or exonic events. In contrast, whole-genome sequencing (WGS) has the potential to more comprehensively profile CNVs but existing analytic methods suffer from limited accuracy. We show that this is in part due to the non-uniformity of read coverage, even after intra-sample normalization. To improve on this, we developed PopSV, an algorithm that uses multiple samples to control for technical variation and enables the robust detection of CNVs...
April 12, 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29582719/urine-culture-on-admission-impacts-antibiotic-use-and-length-of-stay-a-retrospective-cohort-study
#6
Molly J Horstman, Andrew M Spiegelman, Aanand D Naik, Barbara W Trautner
OBJECTIVETo examine the impact of urine culture testing on day 1 of admission on inpatient antibiotic use and hospital length of stay (LOS).DESIGNWe performed a retrospective cohort study using a national dataset from 2009 to 2014.SETTINGThe study used data from 230 hospitals in the United States.PARTICIPANTSAdmissions for adults 18 years and older were included in this study. Hospitalizations were matched with coarsened exact matching by facility, patient age, gender, Medicare severity-diagnosis related group (MS-DRG), and 3 measures of disease severity...
May 2018: Infection Control and Hospital Epidemiology
https://www.readbyqxmd.com/read/29576439/lrrk2-protective-haplotype-and-full-sequencing-study-in-rem-sleep-behavior-disorder
#7
Bouchra Ouled Amar Bencheikh, Jennifer A Ruskey, Isabelle Arnulf, Yves Dauvilliers, Christelle Charley Monaca, Valérie Cochen De Cock, Jean-François Gagnon, Dan Spiegelman, Michele T M Hu, Birgit Högl, Ambra Stefani, Luigi Ferini-Strambi, Giuseppe Plazzi, Elena Antelmi, Peter Young, Anna Heidbreder, Brit Mollenhauer, Friederike Sixel-Döring, Claudia Trenkwalder, Wolfgang Oertel, Jacques Y Montplaisir, Ronald B Postuma, Guy A Rouleau, Ziv Gan-Or
BACKGROUND: Individuals with rapid eye movement (REM)-sleep behavior disorder (RBD) are likely to progress to synucleinopathies, mainly Parkinson's disease (PD), dementia with Lewy-bodies (DLB) and multiple system atrophy (MSA). The genetics of RBD only partially overlaps with PD and DLB, and the role of LRRK2 variants in risk for RBD is still not clear. METHODS: The full coding sequence, exon-intron boundaries and 5' and 3' untranslated regions of LRRK2 were sequenced using targeted next-generation sequencing...
March 21, 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29569922/melting-of-the-au-20-gold-cluster-does-charge-matter
#8
Mathias Rapacioli, Nathalie Tarrat, Fernand Spiegelman
We investigate the dependence upon charge of the heat capacities of the magic gold cluster Au20 obtained from density functional based tight binding theory within parallel tempering molecular dynamics and the multiple histogram method. The melting temperatures, determined from heat capacity curves, are found to be 1102 K for neutral Au20 and only 866 and 826 K for Au+20 and Au-20. Both the canonical and the microcanonical aspects of the transition are discussed. A convex intruder is evidenced in the microcanonical entropy in the case of the neutral cluster, but absent in the melting processes of the ions...
March 23, 2018: Journal of Physical Chemistry. A
https://www.readbyqxmd.com/read/29533650/discovery-of-hydrolysis-resistant-isoindoline-n-acyl-amino-acid-analogues-that-stimulate-mitochondrial-respiration
#9
Hua Lin, Jonathan Z Long, Alexander M Roche, Katrin J Svensson, Florence Y Dou, Mi Ra Chang, Timothy Strutzenberg, Claudia Ruiz, Michael D Cameron, Scott J Novick, Charles A Berdan, Sharon M Louie, Daniel K Nomura, Bruce M Spiegelman, Patrick R Griffin, Theodore M Kamenecka
N-Acyl amino acids directly bind mitochondria and function as endogenous uncouplers of UCP1-independent respiration. We found that administration of N-acyl amino acids to mice improves glucose homeostasis and increases energy expenditure, indicating that this pathway might be useful for treating obesity and associated disorders. We report the full account of the synthesis and mitochondrial uncoupling bioactivity of lipidated N-acyl amino acids and their unnatural analogues. Unsaturated fatty acid chains of medium length and neutral amino acid head groups are required for optimal uncoupling activity on mammalian cells...
April 12, 2018: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/29531279/genome-wide-association-analysis-identifies-new-candidate-risk-loci-for-familial-intracranial-aneurysm-in-the-french-canadian-population
#10
Sirui Zhou, Ziv Gan-Or, Amirthagowri Ambalavanan, Dongbing Lai, Pingxing Xie, Cynthia V Bourassa, Stephanie Strong, Jay P Ross, Alexandre Dionne-Laporte, Dan Spiegelman, Nicolas Dupré, Tatiana M Foroud, Lan Xiong, Patrick A Dion, Guy A Rouleau
Intracranial Aneurysm (IA) is a common disease with a worldwide prevalence of 1-3%. In the French-Canadian (FC) population, where there is an important founder effect, the incidence of IA is higher and is frequently seen in families. In this study, we genotyped a cohort of 257 mostly familial FC IA patients and 1,992 FC controls using the Illumina NeuroX SNP-chip. The most strongly associated loci were tested in 34 Inuit IA families and in 32 FC IA patients and 106 FC controls that had been exome sequenced (WES)...
March 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29531127/teen-pregnancy-risk-factors-among-young-women-of-diverse-sexual-orientations
#11
Brittany M Charlton, Andrea L Roberts, Margaret Rosario, Sabra L Katz-Wise, Jerel P Calzo, Donna Spiegelman, S Bryn Austin
OBJECTIVES: Young women who are sexual minorities (eg, bisexual and lesbian) are approximately twice as likely as those who are heterosexual to have a teen pregnancy. Therefore, we hypothesized that risk factors for teen pregnancy would vary across sexual orientation groups and that other potential risk factors exist that are unique to sexual minorities. METHODS: We used multivariable log-binomial models gathered from 7120 young women in the longitudinal cohort known as the Growing Up Today Study to examine the following potential teen pregnancy risk factors: childhood maltreatment, bullying victimization and perpetration, and gender nonconformity...
April 2018: Pediatrics
https://www.readbyqxmd.com/read/29529909/incidence-and-risk-factors-for-overweight-and-obesity-after-initiation-of-antiretroviral-therapy-in-dar-es-salaam-tanzania
#12
Alexander Kintu, Enju Liu, Ellen Hertzmark, Donna Spiegelman, Rachel Margaret Zack, Aisa Muya, David Sando, Till Bärnighausen, Wafaie Fawzi
OBJECTIVE: To describe the incidence of and risk factors for overweight and obesity following antiretroviral therapy (ART) initiation. METHODS: We used Cox proportional hazards models to investigate risk factors for incident overweight and obesity in 79 074 individuals aged 15 years or older who initiated ART in Dar es Salaam, Tanzania. RESULTS: Twenty-five percent of the patients became overweight and 10% became obese. The incidence rate of obesity was 3...
January 2018: Journal of the International Association of Providers of AIDS Care
https://www.readbyqxmd.com/read/29486744/exome-sequencing-reveals-a-novel-plp1-mutation-in-a-moroccan-family-with-connatal-pelizaeus-merzbacher-disease-a-case-report
#13
Jaber Lyahyai, Bouchra Ouled Amar Bencheikh, Siham C Elalaoui, Maria Mansouri, Lamia Boualla, Alexandre DIonne-Laporte, Dan Spiegelman, Patrick A Dion, Patrick Cossette, Guy A Rouleau, Abdelaziz Sefiani
BACKGROUND: Epilepsy regroups a common and diverse set of chronic neurological disorders that are characterized by spontaneous, unprovoked, and recurrent epileptic seizures. Epilepsies have a highly heterogeneous background with a strong genetic contribution and various mode of inheritance. X-linked epilepsy usually manifests as part of a syndrome or epileptic encephalopathy. The variability of clinical manifestations of X-linked epilepsy may be attributed to several factors including the causal genetic mutation, making diagnosis, genetic counseling and treatment decisions difficult...
February 27, 2018: BMC Pediatrics
https://www.readbyqxmd.com/read/29485735/equity-of-child-and-adolescent-treatment-continuity-of-care-and-mortality-according-to-age-and-gender-among-enrollees-in-a-large-hiv-programme-in-tanzania
#14
Sumona Chaudhury, Ellen Hertzmark, Aisa Muya, David Sando, Nzovu Ulenga, Lameck Machumi, Donna Spiegelman, Wafaie W Fawzi
INTRODUCTION: Global scale up of anti-retroviral therapy (ART) has led to expansion of HIV treatment and prevention across sub-Saharan Africa. However, age and gender-specific disparities persist leading to failures in fulfillment of Sustainability Development Goals, including SDG3 (achieving healthy lives and wellbeing for all, at all ages) and SDG5 (gender equality). We assessed ART initiation and adherence, loss to follow-up, all-cause death and early death, according to SDG3 and SDG5 indicators among a cohort of HIV-infected children and adolescents enrolled in care in Dar-es-Salaam, Tanzania METHODS: SDG3 indicators included young (<5 years) and older paediatric children (5 to <10 years), early adolescent (10 to <15 years) and late adolescent (15 to <20 years) age group divisions and the SDG5 indicator was gender...
February 2018: Journal of the International AIDS Society
https://www.readbyqxmd.com/read/29430064/survival-analysis-with-functions-of-mismeasured-covariate-histories-the-case-of-chronic-air-pollution-exposure-in-relation-to-mortality-in-the-nurses-health-study
#15
Xiaomei Liao, Xin Zhou, Molin Wang, Jaime E Hart, Francine Laden, Donna Spiegelman
Environmental epidemiologists are often interested in estimating the effect of functions of time-varying exposure histories, such as the 12-month moving average, in relation to chronic disease incidence or mortality. The individual exposure measurements that comprise such an exposure history are usually mis-measured, at least moderately, and, often, more substantially. To obtain unbiased estimates of Cox model hazard ratios for these complex mis-measured exposure functions, an extended risk set regression calibration method for Cox models is developed and applied to a study of long-term exposure to the fine particulate matter ( PM 2...
February 2018: Journal of the Royal Statistical Society. Series C, Applied Statistics
https://www.readbyqxmd.com/read/29424028/a-test-for-gene-environment-interaction-in-the-presence-of-measurement-error-in-the-environmental-variable
#16
Hugues Aschard, Donna Spiegelman, Vincent Laville, Pete Kraft, Molin Wang
The identification of gene-environment interactions in relation to risk of human diseases has been challenging. One difficulty has been that measurement error in the exposure can lead to massive reductions in the power of the test, as well as in bias toward the null in the interaction effect estimates. Leveraging previous work on linear discriminant analysis, we develop a new test of interaction between genetic variants and a continuous exposure that mitigates these detrimental impacts of exposure measurement error in ExG testing by reversing the role of exposure and the diseases status in the fitted model, thus transforming the analysis to standard linear regression...
April 2018: Genetic Epidemiology
https://www.readbyqxmd.com/read/29378038/cashew-nut-consumption-increases-hdl-cholesterol-and-reduces-systolic-blood-pressure-in-asian-indians-with-type-2-diabetes-a-12-week-randomized-controlled-trial
#17
Viswanathan Mohan, Rajagopal Gayathri, Lindsay M Jaacks, Nagarajan Lakshmipriya, Ranjit Mohan Anjana, Donna Spiegelman, Raman Ganesh Jeevan, Kandappa K Balasubramaniam, Shanmugam Shobana, Mathialagan Jayanthan, Viswanathan Gopinath, Selvakumar Divya, Vasudevan Kavitha, Parthasarathy Vijayalakshmi, Mookambika Ramya Bai R, Ranjit Unnikrishnan, Vasudevan Sudha, Kamala Krishnaswamy, Jordi Salas-Salvadó, Walter C Willett
Background: There is increasing evidence that nut consumption decreases the risk of cardiovascular disease. However, there are few data on the health effects of cashew nuts among adults with type 2 diabetes (T2DM). Objective: The study aimed to investigate the effects of cashew nut supplementation on glycemia, body weight, blood pressure, and lipid profile in Asian Indians with T2DM. Methods: In a parallel-arm, randomized controlled trial, 300 adults with T2DM [mean ± SD age: 51 ± 9...
January 1, 2018: Journal of Nutrition
https://www.readbyqxmd.com/read/29370366/national-patterns-of-urine-testing-during-inpatient-admission
#18
Molly J Horstman, Andrew Spiegelman, Aanand D Naik, Barbara W Trautner
Background: Overuse of urine testing is a driver of inappropriate antimicrobial use. Limiting wasteful testing is important for patient safety. We examined the national prevalence and patterns of urine testing during adult inpatient admission in the United States. Methods: We performed a retrospective cohort study using a national dataset of inpatient admissions from 263 hospitals in the United States from 2009 to 2014. We included all adult inpatient admissions, excluding those related to pregnancy, urology procedures, and with lengths of stay >30 days...
October 1, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/29369405/targeting-insulin-like-growth-factor-2-mrna-binding-protein-1-igf2bp1-in-metastatic-melanoma-to-increase-efficacy-of-brafv600e-inhibitors
#19
Tae Won Kim, Thomas Havighurst, KyungMann Kim, Mark Albertini, Yaohui G Xu, Vladimir S Spiegelman
Melanoma is one of the deadliest forms of skin cancer. Although BRAF inhibitors significantly enhance survival of metastatic melanoma patients, most patients relapse after less than a year of treatment. We previously reported that mRNA binding protein Insulin-like growth factor 2 mRNA-binding protein 1 (IGF2BP1) is overexpressed in metastatic melanoma and that expression of IGF2BP1 confers resistance to chemotherapeutic agents. Here we demonstrate that IGF2BP1 plays an important role in the sensitivity of melanoma to targeted therapy...
January 25, 2018: Molecular Carcinogenesis
https://www.readbyqxmd.com/read/29350431/mifast-a-novel-and-rapid-microrna-target-capture-method
#20
Ashley M Poenitzsch Strong, Scott M Berry, David J Beebe, Jian-Liang Li, Vladimir S Spiegelman
MicroRNAs (miRNAs), small 22-25 nucleotide non-coding RNAs, play important roles in cellular and tumor biology. However, characterizing miRNA function remains challenging due to an abundance of predicted targets and an experimental bottleneck in identifying biologically relevant direct targets. Here, we developed a novel technique (miFAST) to identify direct miRNA target genes. Using miFAST, we confirmed several previously reported miR-340 target genes and identified five additional novel direct miR-340 targets in melanoma cells...
April 2018: Molecular Carcinogenesis
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