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https://www.readbyqxmd.com/read/29779563/association-of-polygenic-risk-scores-for-multiple-cancers-in-a-phenome-wide-study-results-from-the-michigan-genomics-initiative
#1
Lars G Fritsche, Stephen B Gruber, Zhenke Wu, Ellen M Schmidt, Matthew Zawistowski, Stephanie E Moser, Victoria M Blanc, Chad M Brummett, Sachin Kheterpal, Gonçalo R Abecasis, Bhramar Mukherjee
Health systems are stewards of patient electronic health record (EHR) data with extraordinarily rich depth and breadth, reflecting thousands of diagnoses and exposures. Measures of genomic variation integrated with EHRs offer a potential strategy to accurately stratify patients for risk profiling and discover new relationships between diagnoses and genomes. The objective of this study was to evaluate whether polygenic risk scores (PRS) for common cancers are associated with multiple phenotypes in a phenome-wide association study (PheWAS) conducted in 28,260 unrelated, genotyped patients of recent European ancestry who consented to participate in the Michigan Genomics Initiative, a longitudinal biorepository effort within Michigan Medicine...
May 17, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29778976/developing-two-reference-control-samples-for-the-indian-population
#2
Shruti Iyer, Priyanka Bhatia, Mahendra Rao, Odity Mukherjee
Human induced Pluripotent Stem Cells (HiPSCs) have immense potential in research and therapeutics. Under the aegis of Department of Biotechnology funded national program entitled, "The Accelerator program for Discovery in Brain Disorders using Stem Cells (ADBS)" we have established a HiPSC biorepository (https://www.ncbs.res.in/adbs/bio-repository) with an objective to study severe mental illness. The repository comprises of HiPSC lines derived from healthy control donors and individuals with life time diagnosis of severe mental illness from dense families...
May 12, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29760829/challenges-in-recruiting-african-american-women-for-a-breast-cancer-genetics-study
#3
Amanda J Compadre, Melinda E Simonson, Katy Gray, Gail Runnells, Susan Kadlubar, Kristin K Zorn
Background: African-American women, especially in the southern United States, are underrepresented in cancer genetics research. A study was designed to address this issue by investigating the germline mutation rate in African-American women in Arkansas with a personal and/or family history of breast cancer. Women were tested for these mutations using a large panel of breast cancer susceptibility genes. In this analysis, we discuss the challenges encountered in recruiting African-American women from an existing biorepository to participate in this study...
2018: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/29740704/association-of-intensive-care-unit-delirium-with-sleep-disturbance-and-functional-disability-after-critical-illness-an-observational-cohort-study
#4
Marcus T Altman, Melissa P Knauert, Terrence E Murphy, Amy M Ahasic, Zeeshan Chauhan, Margaret A Pisani
BACKGROUND: In medical intensive care unit (MICU) patients, the predictors of post-discharge sleep disturbance and functional disability are poorly understood. ICU delirium is a risk factor with a plausible link to sleep disturbance and disability. This study evaluated the prevalence of self-reported post-ICU sleep disturbance and increased functional disability, and their association with MICU delirium and other ICU factors. METHODS: This was an observational cohort study of MICU patients enrolled in a biorepository and assessed upon MICU admission by demographics, comorbidities, and baseline characteristics...
May 8, 2018: Annals of Intensive Care
https://www.readbyqxmd.com/read/29733909/radiosensitivity-of-lung-metastases-by-primary-histology-and-implications-for-stereotactic-body-radiation-therapy-using-the-genomically-adjusted-radiation-dose
#5
Kamran A Ahmed, Jacob G Scott, John A Arrington, Arash O Naghavi, G Daniel Grass, Bradford A Perez, Jimmy J Caudell, Anders E Berglund, Eric A Welsh, Steven A Eschrich, Thomas J Dilling, Javier F Torres-Roca
INTRODUCTION: We assessed the radiosensitivity of lung metastases based on primary histology using a validated gene signature and model lung metastases for the genomically adjusted radiation dose (GARD). METHODS: Tissue samples were identified from our prospective observational protocol. The radiosensitivity index (RSI) 10 gene assay was run on samples and calculated alongside GARD using the previously published algorithms. A cohort of 105 patients with 137 lung metastases treated with SBRT at our institution was used for clinical correlation...
May 4, 2018: Journal of Thoracic Oncology
https://www.readbyqxmd.com/read/29733683/biobanking-in-a-challenging-african-environment-unique-experience-from-the-siren-project
#6
Rufus O Akinyemi, Kazeem Akinwande, Samuel Diala, Osi Adeleye, Abiodun Ajose, Kehinde Issa, Dorcas Owusu, Isaac Boamah, Isah Suleiman Yahaya, Abdulraheem Olayemi Jimoh, Lucius Imoh, Gregory Fakunle, Albert Akpalu, Fred Sarfo, Kolawole Wahab, Emmanuel Sanya, Lukman Owolabi, Reginald Obiako, Godwin Osaigbovo, Morenikeji Komolafe, Michael Fawale, Philip Adebayo, Paul Olowoyo, Yahaya Obiabo, Taofiki Sunmonu, Ijezie Chukwuonye, Olayemi Balogun, Basirat Adeoye, Florence Oladele, Peter Olowoniyi, Frederick Adeyemi, Arthur Lezzi, Ajibola Tunde Falayi, Michael Fasanya, Kolawole Ogunwale, Olabisi Adeola, Omolara Olomu, Olumayowa Aridegbe, Ruth Laryea, Ezinne Uvere, Moyinoluwalogo Faniyan, Ezinne Melikam, Raelle Tagge, Onoja Akpa, Joshua Akinyemi, Oyedunni Arulogun, Hemant K Tiwari, Bruce Ovbiagele, Mayowa Owolabi
Africa was previously insufficiently represented in the emerging discipline of biobanking despite commendable early efforts. However, with the Human, Heredity, and Health in Africa (H3Africa) initiative, biorepository science has been bolstered, regional biobanks are springing up, and awareness about biobanks is growing on the continent. The Stroke Investigative Research and Educational Network (SIREN) project is a transnational, multicenter, hospital and community-based study involving over 3000 cases and 3000 controls recruited from 16 sites in Ghana and Nigeria...
May 7, 2018: Biopreservation and Biobanking
https://www.readbyqxmd.com/read/29692621/h3africa-current-perspectives
#7
REVIEW
Nicola Mulder, Alash'le Abimiku, Sally N Adebamowo, Jantina de Vries, Alice Matimba, Paul Olowoyo, Michele Ramsay, Michelle Skelton, Dan J Stein
Precision medicine is being enabled in high-income countries by the growing availability of health data, increasing knowledge of the genetic determinants of disease and variation in response to treatment (pharmacogenomics), and the decreasing costs of data generation, which promote routine application of genomic technologies in the health sector. However, there is uncertainty about the feasibility of applying precision medicine approaches in low- and middle-income countries, due to the lack of population-specific knowledge, skills, and resources...
2018: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/29686968/circulating-pander-concentration-is-associated-with-increased-hba1c-and-fasting-blood-glucose-in-type-2-diabetic-subjects
#8
Catherine B MarElia, Melanie N Kuehl, Tiffany A Shemwell, Amy C Alman, Brant R Burkhardt
Aim: PANcreatic-DERived factor (PANDER, FAM3B) is a novel hormone that regulates glucose levels via interaction with both the endocrine pancreas and liver. Prior studies examining PANDER were primarily conducted in murine models or in vitro but little is known regarding the circulating concentration of PANDER in humans, especially with regard to the association of type 2 diabetes (T2D) or overall glycemic regulation. To address this limitation, we performed a cross-sectional analysis of circulating serum PANDER concentration in association with other hormones that serve as either markers of insulin resistance (insulin and adiponectin) or to metabolic parameters of glycemic control such as fasting HbA1c and blood glucose (FBG)...
March 2018: Journal of Clinical & Translational Endocrinology
https://www.readbyqxmd.com/read/29669557/discovery-biology-of-neuropsychiatric-syndromes-dbns-a-center-for-integrating-clinical-medicine-and-basic-science
#9
Biju Viswanath, Naren P Rao, Janardhanan C Narayanaswamy, Palanimuthu T Sivakumar, Arun Kandasamy, Muralidharan Kesavan, Urvakhsh Meherwan Mehta, Ganesan Venkatasubramanian, John P John, Odity Mukherjee, Meera Purushottam, Ramakrishnan Kannan, Bhupesh Mehta, Thennarasu Kandavel, B Binukumar, Jitender Saini, Deepak Jayarajan, A Shyamsundar, Sydney Moirangthem, K G Vijay Kumar, Jagadisha Thirthalli, Prabha S Chandra, Bangalore N Gangadhar, Pratima Murthy, Mitradas M Panicker, Upinder S Bhalla, Sumantra Chattarji, Vivek Benegal, Mathew Varghese, Janardhan Y C Reddy, Padinjat Raghu, Mahendra Rao, Sanjeev Jain
BACKGROUND: There is emerging evidence that there are shared genetic, environmental and developmental risk factors in psychiatry, that cut across traditional diagnostic boundaries. With this background, the Discovery biology of neuropsychiatric syndromes (DBNS) proposes to recruit patients from five different syndromes (schizophrenia, bipolar disorder, obsessive compulsive disorder, Alzheimer's dementia and substance use disorders), identify those with multiple affected relatives, and invite these families to participate in this study...
April 18, 2018: BMC Psychiatry
https://www.readbyqxmd.com/read/29652094/from-in-vivo-to-in-vitro-how-the-guatemala-std-experiments-transformed-bodies-into-biospecimens
#10
Kayte Spector-Bagdady, Paul A Lombardo
Policy Points: While most scholarship regarding the US Public Health Service's STD experiments in Guatemala during the 1940s has focused on the intentional exposure experiments, secondary research was also conducted on biospecimens collected from these subjects. These biospecimen experiments continued after the Guatemala grant ended, and the specimens were used in conjunction with those from the Tuskegee syphilis experiments for ongoing research. We argue there should be a public accounting of whether there are still biospecimens from the Guatemala and Tuskegee experiments held in US government biorepositories today...
April 13, 2018: Milbank Quarterly
https://www.readbyqxmd.com/read/29626450/female-specific-association-between-variants-on-chromosome-9-and-self-reported-diagnosis-of-irritable-bowel-syndrome
#11
Ferdinando Bonfiglio, Tenghao Zheng, Koldo Garcia-Etxebarria, Fatemeh Hadizadeh, Luis Bujanda, Francesca Bresso, Lars Agreus, Anna Andreasson, Aldona Dlugosz, Greger Lindberg, Peter T Schmidt, Pontus Karling, Bodil Ohlsson, Magnus Simren, Susanna Walter, Gerardo Nardone, Rosario Cuomo, Paolo Usai-Satta, Francesca Galeazzi, Matteo Neri, Piero Portincasa, Massimo Bellini, Giovanni Barbara, Anna Latiano, Matthias Hübenthal, Vincent Thijs, Mihai G Netea, Daisy Jonkers, Lin Chang, Emeran A Mayer, Mira M Wouters, Guy Boeckxstaens, Michael Camilleri, Andre Franke, Alexandra Zhernakova, Mauro D'Amato
BACKGROUND & AIMS: Genetic factors are believed to affect risk for irritable bowel syndrome (IBS), but there have been no sufficiently powered and adequately sized studies. To identify DNA variants associated with IBS risk, we performed a genome-wide association study (GWAS) of the large UK Biobank population-based cohort, which includes genotype and health data from 500,000 participants. METHODS: We studied 7,287,191 high-quality single-nucleotide polymorphisms in individuals who self-reported a doctor's diagnosis of IBS (cases; m=9576) compared to the remainder of the cohort (controls; n=336,499) (mean age of study subjects, 40-69 years)...
April 4, 2018: Gastroenterology
https://www.readbyqxmd.com/read/29621469/misplaced-trust-building-research-relationships-in-the-age-of-biorepository-networks
#12
Aaron Goldenberg, Kyle Brothers
No abstract text is available yet for this article.
April 2018: American Journal of Bioethics: AJOB
https://www.readbyqxmd.com/read/29621446/grudging-trust-and-the-limits-of-trustworthy-biorepository-curation
#13
Karen M Meagher, Eric T Juengst, Gail E Henderson
No abstract text is available yet for this article.
April 2018: American Journal of Bioethics: AJOB
https://www.readbyqxmd.com/read/29618501/use-of-external-quality-control-material-for-hiv-1-rna-testing-to-assess-the-comparability-of-data-generated-in-separate-laboratories-and-the-stability-of-hiv-1-rna-in-samples-after-prolonged-storage
#14
Cheryl Jennings, Carrie G Wager, Salvatore R Scianna, Daniel J Zaccaro, Amy Couzens, John W Mellors, Robert W Coombs, James W Bremer
The NIAID AIDS Clinical Trials Group (ACTG) stores specimens from their clinical trials in a biorepository and permits the use of these specimens for non-protocol exploratory studies once the studies for the original protocol are concluded. We sought to assess the comparability of data generated for real-time HIV-1 RNA testing during two clinical trials with data generated from retesting of different aliquots of the same samples after years of storage at -80° C. Overall, there was 92% agreement in the data for 1570 paired samples (Kappa statistic = 0...
April 4, 2018: Journal of Clinical Microbiology
https://www.readbyqxmd.com/read/29588324/wisconsin-microbiome-study-a-cross-sectional-investigation-of-dietary-fibre-microbiome-composition-and-antibiotic-resistant-organisms-rationale-and-methods
#15
Shoshannah Eggers, Kristen Mc Malecki, Paul Peppard, Julie Mares, Daniel Shirley, Sanjay K Shukla, Keith Poulsen, Ronald Gangnon, Megan Duster, Ashley Kates, Garret Suen, Ajay K Sethi, Nasia Safdar
INTRODUCTION: Prevention of multidrug-resistant organism (MDRO) infections, such as those caused by methicillin-resistant Staphylococcus aureus , vancomycin-resistant enterococci, fluoroquinolone-resistant Gram-negative bacteria and Clostridium difficile is crucial. Evidence suggests that dietary fibre increases gut microbial diversity, which may help prevent colonisation and subsequent infection by MDROs. The aim of the Winning the War on Antibiotic Resistance (WARRIOR) project is to examine associations of dietary fibre consumption with the composition of the gut microbiota and gut colonisation by MDROs...
March 27, 2018: BMJ Open
https://www.readbyqxmd.com/read/29587661/characteristics-and-outcome-of-the-coeur-canadian-validation-cohort-for-ovarian-cancer-biomarkers
#16
Cécile Le Page, Kurosh Rahimi, Martin Köbel, Patricia N Tonin, Liliane Meunier, Lise Portelance, Monique Bernard, Brad H Nelson, Marcus Q Bernardini, John M S Bartlett, Dimcho Bachvarov, Walter H Gotlieb, Blake Gilks, Jessica N McAlpine, Mark W Nachtigal, Alain Piché, Peter H Watson, Barbara Vanderhyden, David G Huntsman, Diane M Provencher, Anne-Marie Mes-Masson
BACKGROUND: Ovarian carcinoma is the most lethal gynecological malignancy due to early dissemination and acquired resistance to platinum-based chemotherapy. Reliable markers that are independent and complementary to clinical parameters are needed to improve the management of patients with this disease. The Canadian Ovarian Experimental Unified Resource (COEUR) provides researchers with biological material and associated clinical data to conduct biomarker validation studies. Using standards defined by the Canadian Tissue Repository Network (CTRNet), we have previously demonstrated the quality of the biological material from this resource...
March 27, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29578601/time-trust-and-transparency-lessons-learned-from-collecting-blood-biospecimens-for-cancer-research-from-the-asian-american-community
#17
Julie H T Dang, Moon S Chen
BACKGROUND: Biospecimens from racially diverse groups are needed to advance cancer research. The Asian American Cancer Education Study was developed to increase the number and proportion of blood biospecimen donations from Asian Americans for cancer research. METHODS: The authors' targeted approach included 2 types of community engagement, in-reach (within institution to Asian American patients with cancer) and outreach (external to institution to the general Asian American community)...
April 1, 2018: Cancer
https://www.readbyqxmd.com/read/29569857/hdl-associated-paraoxonase-1-activity-correlates-with-systemic-inflammation-disease-activity-and-cardiovascular-risk-factors-in-psoriatic-disease
#18
M Elaine Husni, W H Wilson Tang, Michael Lucke, U M Chandrasekharan, Danielle M Brennan, Stanley L Hazen
OBJECTIVE: To compare the activity of the HDL associated paraoxonase-1 (PON1) in psoriasis (PsO) and psoriatic arthritis (PsA) populations and its association with disease activity and cardiovascular disease (CVD) burden. METHODS: Serum paraoxonase and arylesterase activities (measures of PON1 function in humans) were measured in psoriatic arthritis (n=198, 51.0% male) and psoriasis (n=145, 50.3% male) patients enrolled in a longitudinal psoriatic disease biorepository...
March 23, 2018: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/29496157/a-review-of-brain-biorepository-management-and-operations
#19
H Ronald Zielke, Deborah C Mash
Brain biospecimen banking requires centralized resources, national networks for referral of donors, trained personnel to interact with grieving families, and scientific staff to process the biospecimens. Process development of quality control standards is needed to meet the specific requirements of emerging genomic and proteomic technologies. Attention has to be paid to agonal factors and postmortem interval, tissue processing, neuropathology review, and long-term storage. Samples of both diseased and unaffected normal tissues are required with age- and gender-matched control tissues...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29493116/serum-igfbp-2-levels-are-associated-with-reduced-insulin-sensitivity-in-obese-children
#20
S W Yau, B E Harcourt, K-T Kao, E J Alexander, V C Russo, G A Werther, M A Sabin
Insulin-like growth factor binding protein 2 (IGFBP-2) may represent a critical link between body composition and insulin sensitivity. We investigated the relationship between circulating IGFBP-2 levels, body composition, insulin sensitivity, energy intake and physical activity in children with obesity. Children were recruited via the Weight Management Service at the Royal Children's Hospital, Melbourne, as part of the Childhood Overweight BioRepository of Australia (COBRA). Comprehensive anthropometric, biochemical and environmental data were collected and compared to serum IGFBP-2 levels (measured by enzyme-linked immunosorbent assay)...
June 2018: Clinical Obesity
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