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https://www.readbyqxmd.com/read/29288656/functional-bowel-disorders-a-roadmap-to-guide-the-next-generation-of-research
#1
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...
December 27, 2017: Gastroenterology
https://www.readbyqxmd.com/read/29282045/balancing-the-local-and-the-universal-in-maintaining-ethical-access-to-a-genomics-biobank
#2
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
https://www.readbyqxmd.com/read/29275812/development-of-the-necrotizing-enterocolitis-society-registry-and-biorepository
#3
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
https://www.readbyqxmd.com/read/29273068/exploring-patient-and-family-involvement-in-the-lifecycle-of-an-orphan-drug-a-scoping-review
#4
REVIEW
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
https://www.readbyqxmd.com/read/29210527/seroprevalence-of-helicobacter-pylori-in-hispanics-living-in-puerto-rico-a-population-based-study
#5
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...
December 6, 2017: Helicobacter
https://www.readbyqxmd.com/read/29202956/admixture-mapping-of-uterine-fibroid-size-and-number-in-african-american-women
#6
MULTICENTER STUDY
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
https://www.readbyqxmd.com/read/29183295/vdj-gene-usage-among-b-cell-receptors-in-abo-incompatible-kidney-transplantation-determined-by-rna-seq-transcriptomic-analysis
#7
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
https://www.readbyqxmd.com/read/29144792/effect-of-blood-collection-tube-type-and-time-to-processing-on-the-enumeration-and-high-content-characterization-of-circulating-tumor-cells-using-the-high-definition-single-cell-assay
#8
Mariam Rodríguez-Lee, Anand Kolatkar, Madelyn McCormick, Angel D Dago, Jude Kendall, Nils Anders Carlsson, Kelly Bethel, Emily J Greenspan, Shelley E Hwang, Kathryn R Waitman, Jorge J Nieva, James Hicks, Peter Kuhn
CONTEXT: - As circulating tumor cell (CTC) assays gain clinical relevance, it is essential to address preanalytic variability and to develop standard operating procedures for sample handling in order to successfully implement genomically informed, precision health care. OBJECTIVE: - To evaluate the effects of blood collection tube (BCT) type and time-to-assay (TTA) on the enumeration and high-content characterization of CTCs by using the high-definition single-cell assay (HD-SCA)...
November 16, 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/29118648/data-release-dna-barcodes-of-plant-species-collected-for-the-global-genome-initiative-for-gardens-program-national-museum-of-natural-history-smithsonian-institution
#9
Jose D Zúñiga, Morgan R Gostel, Daniel G Mulcahy, Katharine Barker, Asia Hill, Maryam Sedaghatpour, Samantha Q Vo, Vicki A Funk, Jonathan A Coddington
The Global Genome Initiative has sequenced and released 1961 DNA barcodes for genetic samples obtained as part of the Global Genome Initiative for Gardens Program. The dataset includes barcodes for 29 plant families and 309 genera that did not have sequences flagged as barcodes in GenBank and sequences from officially recognized barcoding genetic markers meet the data standard of the Consortium for the Barcode of Life. The genetic samples were deposited in the Smithsonian Institution's National Museum of Natural History Biorepository and their records were made public through the Global Genome Biodiversity Network's portal...
2017: PhytoKeys
https://www.readbyqxmd.com/read/29116062/-biobanks-as-the-basis-for-developing-biomedicine-problems-and-prospects
#10
O N Reznik, D O Kuzmin, A O Reznik
Biobanking is crucial for the development of life sciences in general and biomedical science in particular. A systematic study of stored biomaterials enables the discovery of new biomarkers for various physiological and pathophysiological states, identification of the drug targets, and validation of these findings in human population studies. During the last decades, the importance of biobanking has increased in parallel with the growth in their size from relatively small collections to very large national and international biorepositories...
September 2017: Molekuliarnaia Biologiia
https://www.readbyqxmd.com/read/29100308/integration-of-genomic-transcriptomic-and-functional-profiles-of-aggressive-osteosarcomas-across-multiple-species
#11
Lara E Davis, Sophia Jeng, Matthew N Svalina, Elaine Huang, Janét Pittsenbarger, Emma L Cantor, Noah Berlow, Bernard Seguin, Atiya Mansoor, Shannon K McWeeney, Charles Keller
In complex, highly unstable genomes such as in osteosarcoma, targeting aberrant checkpoint processes (metabolic, cell cycle or immune) may prove more successful than targeting specific kinase or growth factor signaling pathways. Here, we establish a comparative oncology approach characterizing the most lethal osteosarcomas identified in a biorepository of tumors from three different species: human, mouse and canine. We describe the development of a genetically-engineered mouse model of osteosarcoma, establishment of primary cell cultures from fatal human tumors, and a biorepository of osteosarcoma surgical specimens from pet dogs...
September 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28970045/absence-of-replication-competent-lentivirus-in-the-clinic-analysis-of-infused-t-cell-products
#12
Kenneth Cornetta, Lisa Duffy, Cameron J Turtle, Michael Jensen, Stephen Forman, Gwendolyn Binder-Scholl, Terry Fry, Anne Chew, David G Maloney, Carl H June
Exposure to replication-competent lentivirus (RCL) is a theoretical safety concern for individuals treated with lentiviral gene therapy. For certain ex vivo gene therapy applications, including cancer immunotherapy trials, RCL detection assays are used to screen the vector product as well as the vector-transduced cells. In this study, we reviewed T cell products screened for RCL using methodology developed in the National Gene Vector Biorepository. All trials utilized third-generation lentiviral vectors produced by transient transfection...
September 12, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28964418/serum-biomarkers-may-prognosticate-recurrence-in-node-negative-non-small-cell-lung-cancers-less-than-4-centimeters
#13
COMPARATIVE STUDY
Christopher W Seder, Andrew T Arndt, Lia Jordano, Sanjib Basu, Cristina L Fhied, Selina Sayidine, Gary W Chmielewski, Kelsey Gallo, Michael J Liptay, Jeffrey A Borgia
BACKGROUND: A significant proportion of patients who undergo lung resection for less than 4 cm non-small cell lung cancer (NSCLC) will die of disease recurrence within 5 years. The ability to identify patients at greatest risk for recurrence may help individualize treatment and surveillance regimens and improve outcomes. We hypothesized that a serum-based biomarker panel could help risk stratify patients with node-negative NSCLC less than 4 cm for recurrence after lung resection. METHODS: An institutional biorepository of more than 1,800 cases was used to identify patients with resected, node-negative NSCLC less than 4 cm in size...
November 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28938416/pancreatic-histopathology-of-human-monogenic-diabetes-due-to-causal-variants-in-kcnj11-hnf1a-gata6-and-lmna
#14
May Sanyoura, Laura Jacobsen, David Carmody, Daniela Del Gaudio, Gorka Alkorta-Aranburu, Kelly Arndt, Ying Ying Hu, Frances Kobiernicki, Irina Kusmartseva, Mark A Atkinson, Louis H Philipson, Desmond Schatz, Martha Campbell-Thompson, Siri Atma W Greeley
Context: Monogenic diabetes is thought to account for 2% of all diabetes cases but most patients are misdiagnosed as type 1 or type 2 diabetes. To date, little is known about the histopathological features of pancreases from patients with monogenic diabetes. Objective: Retrospective study of the JDRF Network for Pancreatic Organ donors with Diabetes biorepository was used to identify possible cases with monogenic diabetes and to compare effects of genetic variants on pancreas histology...
August 16, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28935999/integrating-a-biorepository-into-the-national-amyotrophic-lateral-sclerosis-registry
#15
D Kevin Horton, Wendy Kaye, Laurie Wagner
As part of our continuing effort to highlight innovative approaches to improving the health and environment of communities, the Journal is pleased to publish a bimonthly column from the Agency for Toxic Substances and Disease Registry (ATSDR). ATSDR is a federal public health agency of the U.S. Department of Health and Human Services (HHS) and shares a common office of the Director with the National Center for Environmental Health (NCEH) at the Centers for Disease Control and Prevention (CDC). ATSDR serves the public by using the best science, taking responsive public health actions, and providing trusted health information to prevent harmful exposures and diseases related to toxic substances...
November 2016: Journal of Environmental Health
https://www.readbyqxmd.com/read/28906323/novel-method-enabling-the-use-of-cryopreserved-primary-acute-myeloid-leukemia-cells-in-functional-drug-screens
#16
Michelle Degnin, Anupriya Agarwal, Katherine Tarlock, Soheil Meshinchi, Brian J Druker, Cristina E Tognon
The ability to assess antileukemic drug activity on primary patient samples is a powerful tool in determining potential drug targets and selection of therapeutic agents with biological and functional rationale. We previously established small molecule inhibitor screens for use on freshly isolated leukemia cells for this purpose. Here we describe a method that produces functional small molecule inhibitor screening results using cryopreserved primary acute myeloid leukemia cells. This method was established to take advantage of biorepositories containing archival material, such as those established by the Children's Oncology Group, and to enable validation of potential pathway dependencies uncovered by genomic analysis...
October 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28857146/recessive-mutations-in-ndufa2-cause-mitochondrial-leukoencephalopathy
#17
S Perrier, L Gauquelin, M Tétreault, L Tran, N Webb, M Srour, J J Mitchell, C Brunel-Guitton, J Majewski, V Long, S Keller, M J Gambello, C Simons, A Vanderver, G Bernard
Deficiencies of mitochondrial respiratory chain complex I frequently result in leukoencephalopathy in young patients, and different mutations in the genes encoding its subunits are still being uncovered. We report two patients with cystic leukoencephalopathy and complex I deficiency with recessive mutations in NDUFA2, an accessory subunit of complex I. The first patient was initially diagnosed with a primary systemic carnitine deficiency associated with a homozygous variant in SLC22A5, but also exhibited developmental regression and cystic leukoencephalopathy, and an additional diagnosis of complex I deficiency was suspected...
August 30, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28851791/organ-damage-in-sickle-cell-disease-study-ordiss-protocol-for-a-longitudinal-cohort-study-based-in-ghana
#18
Kofi A Anie, Vivian Paintsil, Ellis Owusu-Dabo, Daniel Ansong, Alex Osei-Akoto, Kwaku Ohene-Frempong, Kofi Aikins Amissah, Nicholas Addofoh, Ezekiel Bonwin Ackah, Amma Twumwa Owusu-Ansah, Solomon Fiifi Ofori-Acquah
INTRODUCTION: Sickle cell disease is highly prevalent in Africa with a significant public health burden. Nonetheless, morbidity and mortality in sickle cell disease that result from the progression of organ damage is not well understood. The Organ Damage in Sickle Cell Disease Study (ORDISS) is designed as a longitudinal cohort study to provide critical insight into cellular and molecular pathogenesis of chronic organ damage for the development of future innovative treatment. METHODS AND ANALYSIS: ORDISS aims to recruit children aged 0-15 years who attend the Kumasi Centre for Sickle Cell Disease based at the Komfo Anokye Teaching Hospital in Kumasi, Ghana...
August 28, 2017: BMJ Open
https://www.readbyqxmd.com/read/28840457/va-s-national-ptsd-brain-bank-a-national-resource-for-research
#19
REVIEW
Matthew J Friedman, Bertrand R Huber, Christopher B Brady, Robert J Ursano, David M Benedek, Neil W Kowall, Ann C McKee
The National PTSD Brain Bank (NPBB) is a brain tissue biorepository established to support research on the causes, progression, and treatment of PTSD. It is a six-part consortium led by VA's National Center for PTSD with participating sites at VA medical centers in Boston, MA; Durham, NC; Miami, FL; West Haven, CT; and White River Junction, VT along with the Uniformed Services University of Health Sciences. It is also well integrated with VA's Boston-based brain banks that focus on Alzheimer's disease, ALS, chronic traumatic encephalopathy, and other neurological disorders...
August 25, 2017: Current Psychiatry Reports
https://www.readbyqxmd.com/read/28834558/abstracts
#20
E Cotzomi, K D Petschke, K C O'Connor, A D Paltiel
INTRODUCTION: The Inclusion Body Myositis (IBM) Registry at Yale is the largest systematic categorization of IBM, consolidating demographic, natural history, and clinical management data collected from 916 patients via a self-reporting questionnaire. OBJECTIVE/METHODS: To expand and improve registry resources. The registry aims to inform patients about IBM using online tools and information disseminated via social media. For clinicians and researchers, this project aims to establish a platform for longitudinal data collection and a patient biorepository to support laboratory research...
August 23, 2017: Muscle & Nerve
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