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https://www.readbyqxmd.com/read/28323831/genetic-assessment-of-age-associated-alzheimer-disease-risk-development-and-validation-of-a-polygenic-hazard-score
#1
Rahul S Desikan, Chun Chieh Fan, Yunpeng Wang, Andrew J Schork, Howard J Cabral, L Adrienne Cupples, Wesley K Thompson, Lilah Besser, Walter A Kukull, Dominic Holland, Chi-Hua Chen, James B Brewer, David S Karow, Karolina Kauppi, Aree Witoelar, Celeste M Karch, Luke W Bonham, Jennifer S Yokoyama, Howard J Rosen, Bruce L Miller, William P Dillon, David M Wilson, Christopher P Hess, Margaret Pericak-Vance, Jonathan L Haines, Lindsay A Farrer, Richard Mayeux, John Hardy, Alison M Goate, Bradley T Hyman, Gerard D Schellenberg, Linda K McEvoy, Ole A Andreassen, Anders M Dale
BACKGROUND: Identifying individuals at risk for developing Alzheimer disease (AD) is of utmost importance. Although genetic studies have identified AD-associated SNPs in APOE and other genes, genetic information has not been integrated into an epidemiological framework for risk prediction. METHODS AND FINDINGS: Using genotype data from 17,008 AD cases and 37,154 controls from the International Genomics of Alzheimer's Project (IGAP Stage 1), we identified AD-associated SNPs (at p < 10-5)...
March 2017: PLoS Medicine
https://www.readbyqxmd.com/read/28319445/nonclinical-pharmacology-toxicology-study-of-aav8-tbg-mldlr-and-aav8-tbg-hldlr-in-a-mouse-model-of-homozygous-familial-hypercholesterolemia
#2
Jenny A Greig, Maria P Limberis, Peter Bell, Shu-Jen Chen, Roberto Calcedo, Daniel J Rader, James M Wilson
The homozygous form of familial hypercholesterolemia (HoFH) is an excellent model for developing in vivo gene therapy in humans. The success of orthotropic liver transplantation in correcting the metabolic abnormalities in HoFH suggests that the correction of low-density lipoprotein receptor (LDLR) expression in hepatocytes via gene therapy should be sufficient for therapeutic efficacy. Vectors based on adeno-associated virus serotype 8 (AAV8) have been previously developed for liver-targeted gene therapy of a number of genetic diseases, including HoFH...
March 2017: Human Gene Therapy. Clinical Development
https://www.readbyqxmd.com/read/28319109/the-broad-study-a-randomised-controlled-trial-using-a-whole-food-plant-based-diet-in-the-community-for-obesity-ischaemic-heart-disease-or-diabetes
#3
N Wright, L Wilson, M Smith, B Duncan, P McHugh
BACKGROUND/OBJECTIVE: There is little randomised evidence using a whole food plant-based (WFPB) diet as intervention for elevated body mass index (BMI) or dyslipidaemia. We investigated the effectiveness of a community-based dietary programme. Primary end points: BMI and cholesterol at 6 months (subsequently extended). SUBJECTS: Ages 35-70, from one general practice in Gisborne, New Zealand. Diagnosed with obesity or overweight and at least one of type 2 diabetes, ischaemic heart disease, hypertension or hypercholesterolaemia...
March 20, 2017: Nutrition & Diabetes
https://www.readbyqxmd.com/read/28318680/nephrogenic-systemic-fibrosis-a-15-year-retrospective-study-at-a-single-tertiary-care-center
#4
Janice Wilson, Kristyna Gleghorn, Quincy Seigel, Brent Kelly
BACKGROUND: Despite multiple therapeutic approaches for nephrogenic systemic fibrosis (NSF), no single treatment has convincingly shown consistent benefit. The most successful outcomes have been associated with recovery of renal function, although evidence remains limited and past studies have been inconclusive. OBJECTIVE: We sought to investigate whether improvement of renal function via successful transplantation or via return of renal function after acute kidney injury correlates with improvement of NSF, and to further characterize the clinical features and progression of NSF...
March 15, 2017: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/28317878/kidney-specific-transposon-mediated-gene-transfer-in-vivo
#5
Lauren E Woodard, Jizhong Cheng, Richard C Welch, Felisha M Williams, Wentian Luo, Leslie S Gewin, Matthew H Wilson
Methods enabling kidney-specific gene transfer in adult mice are needed to develop new therapies for kidney disease. We attempted kidney-specific gene transfer following hydrodynamic tail vein injection using the kidney-specific podocin and gamma-glutamyl transferase promoters, but found expression primarily in the liver. In order to achieve kidney-specific transgene expression, we tested direct hydrodynamic injection of a DNA solution into the renal pelvis and found that luciferase expression was strong in the kidney and absent from extra-renal tissues...
March 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28317592/long-term-prognostic-value-of-preoperative-anemia-in-patients-with-colorectal-cancer-a-systematic-review-and-meta-analysis
#6
REVIEW
M J Wilson, M van Haaren, J J Harlaar, Hee Chul Park, H J Bonjer, J Jeekel, J J Zwaginga, M Schipperus
OBJECTIVE: To evaluate the long-term prognostic factor of preoperative anemia in colorectal cancer patients. BACKGROUND: Anemia is frequently observed in colorectal cancer patients, with a case incidence of 30 to 67 percent. Besides an indicator of tumor-induced blood loss and inflammation, anemia in cancer is also suggested to be a cause of inferior outcome, possibly via worsening of tumor hypoxia. As surgery is likely to enhance anemia, the long-term prognostic value of preoperative anemia seems most interesting...
March 2017: Surgical Oncology
https://www.readbyqxmd.com/read/28317304/early-onset-chronic-obstructive-pulmonary-disease-in-wilson-mikity-syndrome-with-preterm-birth
#7
Katsuya Hirata, Kiyoaki Sumi, Masahiro Nakayama, Masanori Fujimura, Hiroyuki Kitajima
No abstract text is available yet for this article.
March 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28317015/evaluation-of-the-2015-aga-guidelines-on-pancreatic-cystic-neoplasms-in-a-large-surgically-confirmed-multicenter-cohort
#8
Phillip S Ge, V Raman Muthusamy, Srinivas Gaddam, Diana-Marie Jaiyeola, Stephen Kim, Alireza Sedarat, Timothy R Donahue, Lindsay Hosford, Robert H Wilson, David P Grande, Rajesh N Keswani, Vladimir M Kushnir, Daniel Mullady, Steven A Edmundowicz, Dayna S Early, Srinadh Komanduri, Sachin Wani, Rabindra R Watson
Background and study aims The American Gastroenterological Association (AGA) recently published guidelines for the management of asymptomatic pancreatic cystic neoplasms (PCNs). We aimed to evaluate the diagnostic characteristics of the AGA guidelines in appropriately recommending surgery for malignant PCNs. Patients and methods A retrospective multicenter study was performed of patients who underwent endoscopic ultrasound (EUS) for evaluation of PCNs who ultimately underwent surgical resection from 2004 - 2014...
March 2017: Endoscopy International Open
https://www.readbyqxmd.com/read/28316036/targeting-the-microbiome-in-heart-failure
#9
REVIEW
Allyson Zabell, W H Wilson Tang
Heart failure is the leading cause of mortality and morbidity in the world today. While there have been major advances in our understanding of the pathophysiology of heart failure over the past decades, disease progression remains inevitable in the majority of patients and effective therapies to prevent heart failure are still lacking. Research has turned to better understand the gut microbiome because alterations in their ecosystems have been associated with various downstream chronic conditions including cardiovascular diseases...
April 2017: Current Treatment Options in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28314084/treatment-patterns-and-outcome-following-initial-relapse-or-refractory-disease-in-patients-with-systemic-light-chain-amyloidosis
#10
Nidhi Tandon, Surbhi Sidana, Morie A Gertz, Angela Dispenzieri, Martha Q Lacy, Francis K Buadi, David Dingli, Amie L Fonder, Miriam A Hobbs, Suzanne R Hayman, Wilson I Gonsalves, Yi Lisa Hwa, Prashant Kapoor, Robert A Kyle, Nelson Leung, Ronald S Go, John A Lust, Stephen J Russell, Steven R Zeldenrust, S Vincent Rajkumar, Shaji K Kumar
We analyzed the outcomes following initial relapse or refractory disease in systemic light chain amyloidosis (AL) and the impact of type of therapy employed.A total of 1327 patients with AL seen at Mayo Clinic within 90 days of diagnosis, between 2006 and 2015, were reviewed. The study included 366 patients experiencing a documented hematological or organ relapse or refractory disease requiring start of second line therapy. Overall survival (OS) and time to next treatment (TTNT) were calculated from start of second line treatment...
March 17, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28304092/mediation-of-cognitive-function-improvements-by-strength-gains-after-resistance-training-in-older-adults-with-mild-cognitive-impairment-outcomes-of-the-study-of-mental-and-resistance-training
#11
Yorgi Mavros, Nicola Gates, Guy C Wilson, Nidhi Jain, Jacinda Meiklejohn, Henry Brodaty, Wei Wen, Nalin Singh, Bernhard T Baune, Chao Suo, Michael K Baker, Nasim Foroughi, Yi Wang, Perminder S Sachdev, Michael Valenzuela, Maria A Fiatarone Singh
OBJECTIVES: To determine whether improvements in aerobic capacity (VO2peak ) and strength after progressive resistance training (PRT) mediate improvements in cognitive function. DESIGN: Randomized, double-blind, double-sham, controlled trial. SETTING: University research facility. PARTICIPANTS: Community-dwelling older adults (aged ≥55) with mild cognitive impairment (MCI) (N = 100). INTERVENTION: PRT and cognitive training (CT), 2 to 3 days per week for 6 months...
March 2017: Journal of the American Geriatrics Society
https://www.readbyqxmd.com/read/28303888/dna-methylation-signatures-in-peripheral-blood-strongly-predict-all-cause-mortality
#12
Yan Zhang, Rory Wilson, Jonathan Heiss, Lutz P Breitling, Kai-Uwe Saum, Ben Schöttker, Bernd Holleczek, Melanie Waldenberger, Annette Peters, Hermann Brenner
DNA methylation (DNAm) has been revealed to play a role in various diseases. Here we performed epigenome-wide screening and validation to identify mortality-related DNAm signatures in a general population-based cohort with up to 14 years follow-up. In the discovery panel in a case-cohort approach, 11,063 CpGs reach genome-wide significance (FDR<0.05). 58 CpGs, mapping to 38 well-known disease-related genes and 14 intergenic regions, are confirmed in a validation panel. A mortality risk score based on ten selected CpGs exhibits strong association with all-cause mortality, showing hazard ratios (95% CI) of 2...
March 17, 2017: Nature Communications
https://www.readbyqxmd.com/read/28303424/inherited-disorders-of-transition-metal-metabolism-an-update
#13
REVIEW
Peter T Clayton
Elements with a biological role include six trace transition metals: manganese, iron, cobalt, copper, zinc and molybdenum. Transition metals participate in group transfer reactions such as glycosylation and phosphorylation and those that can transfer an electron by alternating between two redox states such as iron (3+/2+) and copper (2+/1+) are also very important in biological redox reactions including the reduction of molecular oxygen and the transport of oxygen. However, these trace metals are also potentially toxic, generating reactive oxygen species through Fenton chemistry...
March 16, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28303238/feasibility-of-a-peer-led-asthma-and-smoking-prevention-project-in-australian-schools-with-high-indigenous-youth
#14
Gabrielle B McCallum, Anne B Chang, Cate A Wilson, Helen L Petsky, Jan Saunders, Susan J Pizzutto, Siew Choo Su, Smita Shah
BACKGROUND: The high global burden of asthma and tobacco smoking among Indigenous people may potentially be reduced by appropriate interventions that target prevention of tobacco smoke uptake and improved asthma management. The latter includes targeted treatment based on airway inflammation. We undertook a feasibility study in two Darwin schools with a high proportion of Indigenous youth to determine the feasibility of an innovative, peer-led, school-based education program called the Asthma and Smoking Prevention Project (ASPP)...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28302629/a-historic-disease-still-prevalent-today
#15
Lorne V Mitchell, Matthew R Wilson, Susan Holmes
No abstract text is available yet for this article.
March 16, 2017: BMJ: British Medical Journal
https://www.readbyqxmd.com/read/28301587/the-duplication-mutation-of-quebec-platelet-disorder-dysregulates-plau-but-not-c10orf55-selectively-increasing-production-of-normal-plau-transcripts-by-megakaryocytes-but-not-granulocytes
#16
Catherine P M Hayward, Minggao Liang, Subia Tasneem, Asim Soomro, John S Waye, Andrew D Paterson, Georges E Rivard, Michael D Wilson
Quebec Platelet disorder (QPD) is a unique bleeding disorder that markedly increases urokinase plasminogen activator (uPA) in megakaryocytes and platelets but not in plasma or urine. The cause is tandem duplication of a 78 kb region of chromosome 10 containing PLAU (the uPA gene) and C10orf55, a gene of unknown function. QPD increases uPA in platelets and megakaryocytes >100 fold, far more than expected for a gene duplication. To investigate the tissue-specific effect that PLAU duplication has on gene expression and transcript structure in QPD, we tested if QPD leads to: 1) overexpression of normal or unique PLAU transcripts; 2) increased uPA in leukocytes; 3) altered levels of C10orf55 mRNA and/or protein in megakaryocytes and leukocytes; and 4) global changes in megakaryocyte gene expression...
2017: PloS One
https://www.readbyqxmd.com/read/28301431/cyp3a4-activity-is-markedly-lower-in-patients-with-crohn-s-disease
#17
Aze Wilson, Rommel G Tirona, Richard B Kim
BACKGROUND: Disease-dependent changes in the activity of drug metabolizing enzymes and transporters, such as Cytochrome P450 (CYP) 3A4 and P-glycoprotein (P-gp), are thought to have a major influence on the disposition of shared substrates. However, little is known regarding the in vivo relevance of these 2 proteins during drug therapy for gastrointestinal diseases. Our aim was to elucidate the activity of CYP3A4 and P-gp in subjects with Crohn's disease (CD) and to evaluate their influence on budesonide pharmacokinetics...
March 15, 2017: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/28299614/lamin-a-c-cardiomyopathies-current-understanding-and-novel-treatment-strategies
#18
REVIEW
Xi Wang, Allyson Zabell, Wonshill Koh, W H Wilson Tang
Dilated cardiomyopathy (DCM) is the third leading cause of heart failure in the USA. A major gene associated with DCM with cardiac conduction system disease is lamin A/C (LMNA) gene. Lamins are type V filaments that serve a variety of roles, including nuclear structure support, DNA repair, cell signaling pathway mediation, and chromatin organization. In 1999, LMNA was found responsible for Emery-Dreifuss muscular dystrophy (EDMD) and, since then, has been found in association with a wide spectrum of diseases termed laminopathies, including LMNA cardiomyopathy...
March 2017: Current Treatment Options in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28299585/serial-imaging-using-18f-fluorodeoxyglucose-positron-emission-tomography-and-histopathologic-assessment-in-predicting-survival-in-a-population-of-surgically-resectable-distal-oesophageal-and-gastric-adenocarcinoma-following-neoadjuvant-therapy
#19
Varun Manoharan, Soon Lee, Shanley Chong, June Yap, Nick Coupe, Robert Wilson, Neil Merrett, Weng Ng, Michael Lin
BACKGROUND AND OBJECTIVES: We retrospectively evaluated the value of PET/CT in predicting survival and histopathological tumour-response in patients with distal oesophageal and gastric adenocarcinoma following neoadjuvant treatment. METHODS: Twenty-one patients with resectable distal oesophageal adenocarcinoma and 14 with gastric adenocarcinoma between January 2002 and December 2011, who had undergone serial PET before and after neoadjuvant therapy followed by surgery, were enrolled...
March 15, 2017: Annals of Nuclear Medicine
https://www.readbyqxmd.com/read/28298398/management-of-copd-exacerbations-a%C3%A2-european-respiratory-society-american-thoracic-society-guideline
#20
Jadwiga A Wedzicha, Marc Miravitlles, John R Hurst, Peter M A Calverley, Richard K Albert, Antonio Anzueto, Gerard J Criner, Alberto Papi, Klaus F Rabe, David Rigau, Pawel Sliwinski, Thomy Tonia, Jørgen Vestbo, Kevin C Wilson, Jerry A Krishnan
This document provides clinical recommendations for treatment of chronic obstructive pulmonary disease (COPD) exacerbations.Comprehensive evidence syntheses, including meta-analyses, were performed to summarise all available evidence relevant to the Task Force's questions. The evidence was appraised using the Grading of Recommendations, Assessment, Development and Evaluation approach and the results were summarised in evidence profiles. The evidence syntheses were discussed and recommendations formulated by a multidisciplinary Task Force of COPD experts...
March 2017: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
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