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https://www.readbyqxmd.com/read/27910131/whole-exome-association-of-rare-deletions-in-multiplex-oral-cleft-families
#1
Jack Fu, Terri H Beaty, Alan F Scott, Jacqueline Hetmanski, Margaret M Parker, Joan E Bailey Wilson, Mary L Marazita, Elisabeth Mangold, Hasan Albacha-Hejazi, Jeffrey C Murray, Alexandre Bureau, Jacob Carey, Stephen Cristiano, Ingo Ruczinski, Robert B Scharpf
By sequencing the exomes of distantly related individuals in multiplex families, rare mutational and structural changes to coding DNA can be characterized and their relationship to disease risk can be assessed. Recently, several rare single nucleotide variants (SNVs) were associated with an increased risk of nonsyndromic oral cleft, highlighting the importance of rare sequence variants in oral clefts and illustrating the strength of family-based study designs. However, the extent to which rare deletions in coding regions of the genome occur and contribute to risk of nonsyndromic clefts is not well understood...
December 1, 2016: Genetic Epidemiology
https://www.readbyqxmd.com/read/27906525/the-clinical-utility-of-qsm-disease-diagnosis-medical-management-and-surgical-planning
#2
REVIEW
Sarah Eskreis-Winkler, Yan Zhang, Jingwei Zhang, Zhe Liu, Alexey Dimov, Ajay Gupta, Yi Wang
Quantitative susceptibility mapping (QSM) is an MR technique that depicts and quantifies magnetic susceptibility sources. Mapping iron, the dominant susceptibility source in the brain, has many important clinical applications. Herein, we review QSM applications in the diagnosis, medical management, and surgical treatment of disease. To assist in early disease diagnosis, QSM can identify elevated iron levels in the motor cortex of amyotrophic lateral sclerosis patients, in the substantia nigra of Parkinson's disease (PD) patients, in the globus pallidus, putamen, and caudate of Huntington's disease patients, and in the basal ganglia of Wilson's disease patients...
December 1, 2016: NMR in Biomedicine
https://www.readbyqxmd.com/read/27898956/effect-of-timing-of-challenge-following-short-term-natural-exposure-to-bovine-viral-diarrhea-virus-type-1b-on-animal-performance-and-immune-response-in-beef-steers
#3
L Carlos-Valdez, B K Wilson, L O Burciaga-Robles, D L Step, B P Holland, C J Richards, M A Montelongo, A W Confer, R W Fulton, C R Krehbiel
Bovine respiratory disease (BRD) is the most common and economically detrimental disease of beef cattle during the postweaning period, causing the majority of morbidity and mortality in feedlots. The pathogenesis of this disease often includes an initial viral infection, which can predispose cattle to a secondary bacterial infection. The objective of this experiment was to determine the effects of timing of an intratracheal (MH) challenge relative to 72 h of natural exposure to bovine viral diarrhea virus (BVDV) type 1b persistently infected (PI) calves on performance, serum antibody production, total and differential white blood cell (WBC) count, rectal temperature, clinical severity score (CS), and haptoglobin (Hp)...
November 2016: Journal of Animal Science
https://www.readbyqxmd.com/read/27898885/osteochondrosis-prevalence-and-severity-at-12-and-24-weeks-of-age-in-commercial-pigs-with-and-without-organic-complexed-trace-mineral-supplementation
#4
F Tóth, J L Torrison, L Harper, D Bussieres, M E Wilson, T D Crenshaw, C S Carlson
Maternal and progeny diets supplemented with 2 sources of trace mineral (TM) were evaluated for effects on the size and severity of osteochondrosis (OC) lesions in progeny produced by 64 Landrace × Large White sows. At breeding, sows were randomly assigned to maternal diets (gestation and lactation) consisting 1 of 2 TM treatments. One treatment consisted of inorganic TM (ITM) with ZnO, MnSO, and CuSO at concentrations to provide 150, 50, and 16.5 mg/kg diet of Zn, Mn, and Cu, respectively. The other treatment consisted of the same ITM concentrations plus an additional 50, 20, and 10 mg/kg diet of Zn, Mn, and Cu, respectively, supplied by a blend of AA-complexed TM (CTM) using Availa Sow...
September 2016: Journal of Animal Science
https://www.readbyqxmd.com/read/27898582/antithrombotic-therapy-in-patients-with-cerebral-microbleeds
#5
Duncan Wilson, David J Werring
PURPOSE OF REVIEW: Cerebral microbleeds (CMBs) are a radiological marker of cerebral small vessel disease corresponding to small haemosiderin foci identified by blood-sensitive MRI. CMBs are common in older community populations, and in individuals with ischaemic stroke or transient ischaemic attack (TIA), and intracerebral haemorrhage (ICH). We summarize how CMBs might contribute to assessing the future risk of ischaemic stroke and ICH to inform antithrombotic (antiplatelet or anticoagulant) decisions...
November 24, 2016: Current Opinion in Neurology
https://www.readbyqxmd.com/read/27896987/discovery-of-functional-and-disease-pathways-by-community-detection-in-protein-protein-interaction-networks
#6
Stephen J Wilson, Angela D Wilkins, Chih-Hsu Lin, Rhonald C Lua, Olivier Lichtarge
Advances in cellular, molecular, and disease biology depend on the comprehensive characterization of gene interactions and pathways. Traditionally, these pathways are curated manually, limiting their efficient annotation and, potentially, reinforcing field-specific bias. Here, in order to test objective and automated identification of functionally cooperative genes, we compared a novel algorithm with three established methods to search for communities within gene interaction networks. Communities identified by the novel approach and by one of the established method overlapped significantly (q < 0...
2016: Pacific Symposium on Biocomputing
https://www.readbyqxmd.com/read/27892883/predicting-long-term-prognosis-in-stable-peripheral-artery-disease-with-baseline-functional-capacity-estimated-by-the-duke-activity-status-index
#7
Vichai Senthong, Yuping Wu, Stanley L Hazen, W H Wilson Tang
BACKGROUND: The ability of a simple self-assessment tool for estimated functional capacity to predict long-term prognosis in patients with established peripheral artery disease (PAD) is unknown. We investigate whether subjective measurement of functional capacity estimated by using the Duke Activity Status Index (DASI) questionnaire predicts long-term prognosis in patients with established PAD. METHODS: We administered the DASI questionnaire to 771 stable patients with established PAD who underwent elective diagnostic coronary angiography with 5-year follow-up all-cause mortality...
October 20, 2016: American Heart Journal
https://www.readbyqxmd.com/read/27890643/coordination-of-dna-single-strand-break-repair
#8
Rachel Abbotts, David M Wilson
The genetic material of all organisms is susceptible to modification. In some instances, these changes are programmed, such as the formation of DNA double strand breaks during meiotic recombination to generate gamete variety or class switch recombination to create antibody diversity. However, in most cases, genomic damage is potentially harmful to the health of the organism, contributing to disease and aging by promoting deleterious cellular outcomes. A proportion of DNA modifications are caused by exogenous agents, both physical (namely ultraviolet sunlight and ionizing radiation) and chemical (such as benzopyrene, alkylating agents, platinum compounds and psoralens), which can produce numerous forms of DNA damage, including a range of "simple" and helix-distorting base lesions, abasic sites, crosslinks and various types of phosphodiester strand breaks...
November 24, 2016: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/27890294/oncology-of-reptiles-diseases-diagnosis-and-treatment
#9
REVIEW
Jane Christman, Michael Devau, Heather Wilson-Robles, Sharman Hoppes, Raquel Rech, Karen E Russell, J Jill Heatley
Based on necropsy review, neoplasia in reptiles has a comparable frequency to that of mammals and birds. Reptile neoplasia is now more frequently diagnosed in clinical practice based on increased use of advanced diagnostic techniques and improvements in reptilian husbandry allowing greater longevity of these species. This article reviews the current literature on neoplasia in reptiles, and focuses on advanced diagnostics and therapeutic options for reptilian patientssuffering neoplastic disease. Although most applied clinical reptile oncology is translated from dog and cat oncology, considerations specific to reptilian patients commonly encountered in clinical practice (turtles, tortoises, snakes, and lizards) are presented...
January 2017: Veterinary Clinics of North America. Exotic Animal Practice
https://www.readbyqxmd.com/read/27889827/the-effect-of-routine-training-on-the-self-efficacy-of-informal-caregivers-of-colorectal-cancer-patients
#10
Rachel D Havyer, Michelle van Ryn, Patrick M Wilson, Joan M Griffin
PURPOSE: Little is known about the degree to which caregiver training as part of routine clinical care influences caregiver self-efficacy. The objective of this study was to examine the relationship between training during routine clinical cancer care and self-efficacy among caregivers of colorectal cancer patients. METHODS: Caregivers completed a self-administered questionnaire about their experiences with training for specific patient problems and about their task-specific and general caregiving self-efficacy...
November 26, 2016: Supportive Care in Cancer: Official Journal of the Multinational Association of Supportive Care in Cancer
https://www.readbyqxmd.com/read/27888884/update-on-burkitt-lymphoma
#11
REVIEW
Kieron Dunleavy, Richard F Little, Wyndham H Wilson
Because of its rarity and high curability, progress in advancing therapeutics in Burkitt lymphoma (BL) has been difficult. Over recent years, several new mutations that cooperate with MYC have been identified, and this has paved the way for testing novel agents in the disease. One of the challenges of most standard approaches typically used is severe treatment-related toxicity that often leads to discontinuation of therapy. To that point, there has been recent success developing intermediate intensity approaches that are well tolerated in all patient groups and maintain high cure rates in a multicenter setting...
December 2016: Hematology/oncology Clinics of North America
https://www.readbyqxmd.com/read/27888672/incidence-of-coronary-intervention-in-cardiac-arrest-survivors-with-non-shockable-initial-rhythms-and-no-evidence-of-st-elevation-mi-stemi
#12
Matthew Wilson, Anne V Grossestreuer, David F Gaieski, Benjamin S Abella, William Frohna, Munish Goyal
OBJECTIVE: With the demonstrated benefit of an early-invasive strategy for STEMI and VF/VT arrest patients, there is interest in assessing the potential benefit of early angiography for non-shockable (PEA/Asystole) arrest patients. We hypothesized that in cardiac arrest patients who obtain return of spontaneous circulation (ROSC) after a non-shockable initial rhythm and do not have STEMI the incidence of coronary intervention would be clinically insignificant (<5%). METHODS: Retrospective multicenter US clinical registry study of post-cardiac arrest patients at 18 hospitals between 1/00 and 5/14...
November 23, 2016: Resuscitation
https://www.readbyqxmd.com/read/27886785/approaches-to-sustainable-capacity-building-for-cardiovascular-disease-care-in-kenya
#13
REVIEW
Felix A Barasa, Rajesh Vedanthan, Sonak D Pastakia, Susie J Crowe, Wilson Aruasa, Wilson K Sugut, Russ White, Elijah S Ogola, Gerald S Bloomfield, Eric J Velazquez
Cardiovascular diseases are approaching epidemic levels in Kenya and other low- and middle-income countries without accompanying effective preventive and therapeutic strategies. This is happening in the background of residual and emerging infections and other diseases of poverty, and increasing physical injuries from traffic accidents and noncommunicable diseases. Investments to create a skilled workforce and health care infrastructure are needed. Improving diagnostic capacity, access to high-quality medications, health care, appropriate legislation, and proper coordination are key components to ensuring the reversal of the epidemic and a healthy citizenry...
February 2017: Cardiology Clinics
https://www.readbyqxmd.com/read/27886173/integrative-epigenome-wide-analysis-demonstrates-that-dna-methylation-may-mediate-genetic-risk-in-inflammatory-bowel-disease
#14
N T Ventham, N A Kennedy, A T Adams, R Kalla, S Heath, K R O'Leary, H Drummond, D C Wilson, I G Gut, E R Nimmo, J Satsangi
Epigenetic alterations may provide important insights into gene-environment interaction in inflammatory bowel disease (IBD). Here we observe epigenome-wide DNA methylation differences in 240 newly-diagnosed IBD cases and 190 controls. These include 439 differentially methylated positions (DMPs) and 5 differentially methylated regions (DMRs), which we study in detail using whole genome bisulphite sequencing. We replicate the top DMP (RPS6KA2) and DMRs (VMP1, ITGB2 and TXK) in an independent cohort. Using paired genetic and epigenetic data, we delineate methylation quantitative trait loci; VMP1/microRNA-21 methylation associates with two polymorphisms in linkage disequilibrium with a known IBD susceptibility variant...
November 25, 2016: Nature Communications
https://www.readbyqxmd.com/read/27885844/guidance-to-manage-inappropriate-polypharmacy-in-older-people-systematic-review-and-future-developments
#15
Derek Stewart, Alpana Mair, Martin Wilson, Przemyslaw Kardas, Pawel Lewek, Albert Alonso, Jennifer McIntosh, Katie MacLure
Single disease state led evidence-based guidelines do not provide sufficient coverage of issues of multimorbidities, with the cumulative impact of recommendations often resulting in overwhelming medicines burden. Inappropriate polypharmacy increases the likelihood of adverse drug events, drug interactions and non-adherence. Areas covered: A detailed description of a pan-European initiative, 'Stimulating Innovation Management of Polypharmacy and Adherence in the Elderly, SIMPATHY', which is a project funded by the European Commission to support innovation across the European Union...
November 25, 2016: Expert Opinion on Drug Safety
https://www.readbyqxmd.com/read/27885030/social-status-alters-immune-regulation-and-response-to-infection-in-macaques
#16
Noah Snyder-Mackler, Joaquín Sanz, Jordan N Kohn, Jessica F Brinkworth, Shauna Morrow, Amanda O Shaver, Jean-Christophe Grenier, Roger Pique-Regi, Zachary P Johnson, Mark E Wilson, Luis B Barreiro, Jenny Tung
Social status is one of the strongest predictors of human disease risk and mortality, and it also influences Darwinian fitness in social mammals more generally. To understand the biological basis of these effects, we combined genomics with a social status manipulation in female rhesus macaques to investigate how status alters immune function. We demonstrate causal but largely plastic social status effects on immune cell proportions, cell type-specific gene expression levels, and the gene expression response to immune challenge...
November 25, 2016: Science
https://www.readbyqxmd.com/read/27884935/diagnostic-value-of-exome-and-whole-genome-sequencing-in-craniosynostosis
#17
Kerry A Miller, Stephen R F Twigg, Simon J McGowan, Julie M Phipps, Aimée L Fenwick, David Johnson, Steven A Wall, Peter Noons, Katie E M Rees, Elizabeth A Tidey, Judith Craft, John Taylor, Jenny C Taylor, Jacqueline A C Goos, Sigrid M A Swagemakers, Irene M J Mathijssen, Peter J van der Spek, Helen Lord, Tracy Lester, Noina Abid, Deirdre Cilliers, Jane A Hurst, Jenny E V Morton, Elizabeth Sweeney, Astrid Weber, Louise C Wilson, Andrew O M Wilkie
BACKGROUND: Craniosynostosis, the premature fusion of one or more cranial sutures, occurs in ∼1 in 2250 births, either in isolation or as part of a syndrome. Mutations in at least 57 genes have been associated with craniosynostosis, but only a minority of these are included in routine laboratory genetic testing. METHODS: We used exome or whole genome sequencing to seek a genetic cause in a cohort of 40 subjects with craniosynostosis, selected by clinical or molecular geneticists as being high-priority cases, and in whom prior clinically driven genetic testing had been negative...
November 24, 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/27884237/diastolic-dysfunction-and-hypertension
#18
REVIEW
Wilson Nadruz, Amil M Shah, Scott D Solomon
Left ventricular (LV) diastolic dysfunction (LVDD) is characterized by alterations in LV diastolic filling, and is a strong predictor of cardiovascular events and heart failure. Hypertension is the most important risk factor for LVDD in the community and promotes LVDD through several mechanisms, including hemodynamic overload and myocardial ischemia. Associated factors such as age, ethnicity, dietary sodium, obesity, diabetes mellitus, and chronic kidney disease also contribute to LVDD in hypertensive individuals...
January 2017: Medical Clinics of North America
https://www.readbyqxmd.com/read/27881675/the-intestinal-copper-exporter-cua-1-is-required-for-systemic-copper-homeostasis-in-caenorhabditis-elegans
#19
Haarin Chun, Anuj Kumar Sharma, Jaekwon Lee, Jefferson Chan, Shang Jia, Byung-Eun Kim
Copper (Cu) plays key catalytic and regulatory roles in biochemical processes essential for normal growth, development, and health. Defects in Cu metabolism cause Menkes and Wilson's disease, myeloneuropathy, and cardiovascular disease and are associated with other pathophysiological states. Consequently, it is critical to understand the mechanisms by which organisms control the acquisition, distribution, and utilization of Cu. The intestinal enterocyte is a key regulatory point for Cu absorption into the body, however the mechanisms by which intestinal cells transport Cu to maintain organismal Cu homeostasis are poorly understood...
November 23, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27878761/genome-wide-association-analysis-of-the-sense-of-smell-in-u-s-older-adults-identification-of-novel-risk-loci-in-african-americans-and-european-americans
#20
Jing Dong, Annah Wyss, Jingyun Yang, T Ryan Price, Aude Nicolas, Michael Nalls, Greg Tranah, Nora Franceschini, Zongli Xu, Claudia Schulte, Alvaro Alonso, Steven R Cummings, Myriam Fornage, Dmitri Zaykin, Leping Li, Xuemei Huang, Stephen Kritchevsky, Yongmei Liu, Thomas Gasser, Robert S Wilson, Philip L De Jager, Andrew B Singleton, Jayant M Pinto, Tamara Harris, Thomas H Mosley, David A Bennett, Stephanie London, Lei Yu, Honglei Chen
The human sense of smell decreases with age, and a poor sense of smell are among the most important prodromal symptoms of several neurodegenerative diseases. Recent evidence further suggests a racial difference in the sense of smell among U.S. older adults. However, no genome-wide association study (GWAS) on the sense of smell has been conducted in African-Americans (AAs). We performed the first genome-wide meta-analysis of the sense of smell among 1979 AAs and 6582 European-Americans (EAs) from three U.S. aging cohorts...
November 23, 2016: Molecular Neurobiology
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