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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
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)...
February 28, 2018: Clinical Obesity
Chanshuai Han, Mathilde Chaineau, Carol X-Q Chen, Lenore K Beitel, Thomas M Durcan
Neurodegenerative diseases are a challenge for drug discovery, as the biological mechanisms are complex and poorly understood, with a paucity of models that faithfully recapitulate these disorders. Recent advances in stem cell technology have provided a paradigm shift, providing researchers with tools to generate human induced pluripotent stem cells (iPSCs) from patient cells. With the potential to generate any human cell type, we can now generate human neurons and develop "first-of-their-kind" disease-relevant assays for small molecule screening...
2018: Frontiers in Neuroscience
Melena D Bellin, Maisam Abu-El-Haija, Katherine Morgan, David Adams, Gregory J Beilman, Srinath Chinnakotla, Darwin L Conwell, Ty B Dunn, Martin L Freeman, Timothy Gardner, Varvara A Kirchner, Luis F Lara, Leslie Long-Simpson, Jaimie D Nathan, Bashoo Naziruddin, John A Nyman, Timothy L Pruett, Sarah J Schwarzenberg, Vikesh K Singh, Kerrington Smith, Jennifer L Steel, Martin Wijkstrom, Piotr Witkowski, James S Hodges
BACKGROUND/OBJECTIVES: Total pancreatectomy with islet autotransplantation (TPIAT) is considered for managing chronic pancreatitis in selected patients when medical and endoscopic interventions have not provided adequate relief from debilitating pain. Although more centers are performing TPIAT, we lack large, multi-center studies to guide decisions about selecting candidates for and timing of TPIAT. METHODS: Multiple centers across the United States (9 to date) performing TPIAT are prospectively enrolling patients undergoing TPIAT for chronic pancreatitis into the Prospective Observational Study of TPIAT (POST), a NIDDK funded study with a goal of accruing 450 TPIAT recipients...
February 6, 2018: Pancreatology: Official Journal of the International Association of Pancreatology (IAP) ... [et Al.]
Patrick J Silva, Valerie M Schaibley, Kenneth S Ramos
While the promise of the Human Genome Project provided significant insights into the structure of the human genome, the complexities of disease at the individual level have made it difficult to utilize -omic information in clinical decision making. Some of the existing constraints have been minimized by technological advancements that have reduced the cost of sequencing to a rate far in excess of Moore's Law (a halving in cost per unit output every 18 months). The reduction in sequencing costs has made it economically feasible to create large data commons capturing the diversity of disease across populations...
February 15, 2018: Journal of Translational Medicine
Sam Behjati, Susan Lindsay, Sarah A Teichmann, Muzlifah Haniffa
Human development is regulated by spatiotemporally restricted molecular programmes and is pertinent to many areas of basic biology and human medicine, such as stem cell biology, reproductive medicine and childhood cancer. Mapping human development has presented significant technological, logistical and ethical challenges. The availability of established human developmental biorepositories and the advent of cutting-edge single-cell technologies provide new opportunities to study human development. Here, we present a working framework for the establishment of a human developmental cell atlas exploiting single-cell genomics and spatial analysis...
February 8, 2018: Development
Shannon J McCall, Philip A Branton, Victoria M Blanc, Sarah M Dry, Julie M Gastier-Foster, James H Harrison, Scott D Jewell, Rajesh C Dash, Rebecca C Obeng, Joan Rose, Dawna L Mateski, Albi Liubinskas, James A Robb, Nilsa C Ramirez, Kathi Shea
The College of American Pathologists (CAP) developed the Biorepository Accreditation Program (BAP) in 2012. This program integrates best practices from the International Society for Biological and Environmental Biorepositories, the National Cancer Institute, the Organisation for Economic Cooperation and Development, the Center for Medicare and Medicaid Services, and the CAP Laboratory Accreditation Program. The goal of this elective program is to provide requirements for standardization in biorepository processes that will result in high-quality specimens that can be used to support research, drug discovery, and personalized medicine...
February 2018: Biopreservation and Biobanking
Deborah Goodman, Deborah Bowen, Lari Wenzel, Paris Tehrani, Francis Fernando, Araksi Khacheryan, Farihah Chowdhury, Catherine O Johnson, Karen Edwards
Observational genome-wide association studies require large sample sizes. Evaluating the interplay between genomic, environmental, and lifestyle factors can require even larger sample sizes. The All of Us Research Program will recruit 1 million participants to facilitate research on genomic, environmental, and lifestyle factors. Integrating participant preferences into the research process is a new paradigm and a necessary component of the All of Us Research Program. The purpose of the study is to summarize quantitative studies of participant preferences related to participation in observational genomic research studies, starting with consent through return of results...
January 29, 2018: Translational Behavioral Medicine
Deborah Goodman, Catherine O Johnson, Deborah Bowen, Megan Smith, Lari Wenzel, Karen L Edwards
Data sharing of large genomic databases and biorepositories provides researchers adequately powered samples to advance the goals of precision medicine. Data sharing may also introduce, however, participant privacy concerns including possible reidentification. This study compares views of research participants, genetic researchers, and institutional review board (IRB) professionals regarding concerns about the use of de-identified data. An online survey was completed by cancer patients, their relatives, and controls from the Northwest Cancer Genetics Registry (n = 450) querying views about potential harms with the use of de-identified data...
January 29, 2018: Translational Behavioral Medicine
Electra D Paskett, Bette J Caan, Lisa Johnson, Brittany M Bernardo, Gregory S Young, Michael L Pennell, Roberta M Ray, Candyce H Kroenke, Peggy L Porter, Garnet L Anderson
Background: The Women's Health Initiative (WHI) Life and Longevity After Cancer (LILAC) study offers an important opportunity to advance cancer research by extending the original WHI studies to examine survivorship in women diagnosed with cancer during their participation in WHI.Methods: The goals of LILAC are to (i) obtain cancer treatment information and long-term cancer outcomes for women diagnosed with one of eight selected cancers (breast, endometrial, ovarian, lung, and colorectal cancers, and melanoma, lymphoma, and leukemia); (ii) augment the existing WHI biorepository with fixed tumor tissue from the solid tumor sites for cancers diagnosed since 2002; and (iii) develop, refine, and validate methods to use administrative data to capture treatment and recurrence data...
January 29, 2018: Cancer Epidemiology, Biomarkers & Prevention
Parul H Kothari, Weiliang Qiu, Damien C Croteau-Chonka, Fernando D Martinez, Andrew H Liu, Robert F Lemanske, Carole Ober, Jerry A Krishnan, Dan L Nicolae, Kathleen C Barnes, Stephanie J London, Albino Barraza-Villarreal, Steven R White, Edward T Naureckas, Joshua Millstein, W James Gauderman, Frank D Gilliland, Vincent J Carey, Scott T Weiss, Benjamin A Raby
No abstract text is available yet for this article.
January 25, 2018: Journal of Allergy and Clinical Immunology
Peter J Mazzone, Xiao-Feng Wang, Xiaozhen Han, Humberto Choi, Meredith Seeley, Richard Scherer, Victoria Doseeva
Background: A panel of 3 serum proteins and 1 autoantibody has been developed to assist with the detection of lung cancer. We aimed to validate the accuracy of the biomarker panel in an independent test set and explore the impact of adding a fourth serum protein to the panel, as well as the impact of combining molecular and clinical variables. Methods: The training set of serum samples was purchased from commercially available biorepositories. The testing set was from a biorepository at the Cleveland Clinic...
2018: Biomarker Insights
Petr Holub, Florian Kohlmayer, Fabian Prasser, Michaela Th Mayrhofer, Irene Schlünder, Gillian M Martin, Sara Casati, Lefteris Koumakis, Andrea Wutte, Łukasz Kozera, Dominik Strapagiel, Gabriele Anton, Gianluigi Zanetti, Osman Ugur Sezerman, Maimuna Mendy, Dalibor Valík, Marialuisa Lavitrano, Georges Dagher, Kurt Zatloukal, GertJan B van Ommen, Jan-Eric Litton
The known challenge of underutilization of data and biological material from biorepositories as potential resources for medical research has been the focus of discussion for over a decade. Recently developed guidelines for improved data availability and reusability-entitled FAIR Principles (Findability, Accessibility, Interoperability, and Reusability)-are likely to address only parts of the problem. In this article, we argue that biological material and data should be viewed as a unified resource. This approach would facilitate access to complete provenance information, which is a prerequisite for reproducibility and meaningful integration of the data...
January 23, 2018: Biopreservation and Biobanking
Lin Chang, Carlo Di Lorenzo, Gianrico Farrugia, Frank A Hamilton, Gary M Mawe, Pankaj J Pasricha, John W Wiley
In June 2016, the National Institutes of Health hosted a workshop on functional bowel disorders (FBDs), particularly irritable bowel syndrome, with the objective of elucidating gaps in current knowledge and recommending strategies to address these gaps. The workshop aimed to provide a roadmap to help strategically guide research efforts during the next decade. Attendees were a diverse group of internationally recognized leaders in basic and clinical FBD research. This document summarizes the results of their deliberations, including the following general conclusions and recommendations...
February 2018: Gastroenterology
Catherine Heeney, Shona M Kerr
BACKGROUND: Issues of balancing data accessibility with ethical considerations and governance of a genomics research biobank, Generation Scotland, are explored within the evolving policy landscape of the past ten years. During this time data sharing and open data access have become increasingly important topics in biomedical research. Decisions around data access are influenced by local arrangements for governance and practices such as linkage to health records, and the global through policies for biobanking and the sharing of data with large-scale biomedical research data resources and consortia...
December 28, 2017: BMC Medical Ethics
Matthew W Ralls, Samir K Gadepalli, Karl G Sylvester, Misty Good
Necrotizing enterocolitis (NEC) is a devastating disease affecting premature infants. New advances in diagnostic and treatment options are desperately needed. Accordingly, the NEC Society initiated a research collaborative with a group of investigators dedicated to advancing the state of NEC-associated knowledge. Recent advances in high-content molecular interrogation and bio-computation (e.g., genomics, transcriptomics, proteomics, and metabolomics) can provide new insights from afflicted infants with NEC, however, individual centers do not have sufficient cases to conduct these studies independently...
February 2018: Seminars in Pediatric Surgery
Andrea Young, Devidas Menon, Jackie Street, Walla Al-Hertani, Tania Stafinski
BACKGROUND: Patients and their families have become more active in healthcare systems and research. The value of patient involvement is particularly relevant in the area of rare diseases, where patients face delayed diagnoses and limited access to effective therapies due to the high level of uncertainty in market approval and reimbursement decisions. It has been suggested that patient involvement may help to reduce some of these uncertainties. This review explored existing and proposed roles for patients, families, and patient organizations at each stage of the lifecycle of therapies for rare diseases (i...
December 22, 2017: Orphanet Journal of Rare Diseases
María González-Pons, Marievelisse Soto-Salgado, Javier Sevilla, Juan M Márquez-Lespier, Douglas Morgan, Cynthia M Pérez, Marcia Cruz-Correa
BACKGROUND: Helicobacter pylori is an important etiologic factor for peptic ulcers and gastric cancer, one of the top ten leading causes of cancer death in Puerto Rico. However, the prevalence of H. pylori infections in this population was previously unknown. The aim of this study was to examine the seroprevalence of H. pylori and its associated risk factors in Puerto Rico. MATERIALS AND METHODS: A cross-sectional study was designed using an existing population-based biorepository...
February 2018: Helicobacter
Michael J Bray, Todd L Edwards, Melissa F Wellons, Sarah H Jones, Katherine E Hartmann, Digna R Velez Edwards
OBJECTIVE: To evaluate the relationship between genetic ancestry and uterine fibroid characteristics. DESIGN: Cross-sectional study. SETTING: Not applicable. PATIENT(S): A total of 609 African American participants with image- or surgery-confirmed fibroids in a biorepository at Vanderbilt University electronic health record biorepository and the Coronary Artery Risk Development in Young Adults studies were included. INTERVENTION(S): None...
December 2017: Fertility and Sterility
Hee Jung Jeon, Kwangsoo Kim, Jae-Ghi Lee, Joon Young Jang, Seongmin Choi, Taishi Fang, Ji-Jing Yan, Miyeun Han, Jong Cheol Jeong, Kyoung-Bun Lee, Tae Jin Kim, Curie Ahn, Jaeseok Yang
BACKGROUND: Studies on B-cell subtypes and V(D)J gene usage of B-cell receptors in kidney transplants are scarce. This study aimed to investigate V(D)J gene segment usage in ABO-incompatible (ABOi) kidney transplant (KT) patients compared to that in ABO-compatible (ABOc) KT patients. METHODS: We selected 16 ABOi KT patients with accommodation (ABOiA), 6 ABOc stable KT patients (ABOcS), and 6 ABOi KT patients with biopsy-proven acute antibody-mediated rejection (ABOiR) at day 10, whose graft tissue samples had been stored in the biorepository between 2010 and 2014...
November 28, 2017: BMC Nephrology
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