Read by QxMD icon Read


Peter Jo, Manuel Nietert, Linda Gusky, Julia Kitz, Lena C Conradi, Annegret Müller-Dornieden, Philipp Schüler, Hendrik A Wolff, Josef Rüschoff, Philipp Ströbel, Marian Grade, Torsten Liersch, Tim Beißbarth, Michael B Ghadimi, Ulrich Sax, Jochen Gaedcke
Translational research relies on high-quality biospecimens. In patients with rectal cancer treated preoperatively with radiochemotherapy tissue based analyses are challenging. To assess quality challenges we analyzed tissue samples taken over the last years in a multicenter setting. We retrospectively evaluated overall 197 patients of the CAO/ARO/AIO-94- and 04-trial with locally advanced rectal cancer that were biopsied preoperatively at the University Medical Center Goettingen as well as in 10 cooperating hospitals in Germany...
October 18, 2016: Scientific Reports
Gina L O'Grady, Heather A Best, Tamar E Sztal, Vanessa Schartner, Myriam Sanjuan-Vazquez, Sandra Donkervoort, Osorio Abath Neto, Roger Bryan Sutton, Biljana Ilkovski, Norma Beatriz Romero, Tanya Stojkovic, Jahannaz Dastgir, Leigh B Waddell, Anne Boland, Ying Hu, Caitlin Williams, Avnika A Ruparelia, Thierry Maisonobe, Anthony J Peduto, Stephen W Reddel, Monkol Lek, Taru Tukiainen, Beryl B Cummings, Himanshu Joshi, Juliette Nectoux, Susan Brammah, Jean-François Deleuze, Viola Oorschot Ing, Georg Ramm, Didem Ardicli, Kristen J Nowak, Beril Talim, Haluk Topaloglu, Nigel G Laing, Kathryn N North, Daniel G MacArthur, Sylvie Friant, Nigel F Clarke, Robert J Bryson-Richardson, Carsten G Bönnemann, Jocelyn Laporte, Sandra T Cooper
This study establishes PYROXD1 variants as a cause of early-onset myopathy and uses biospecimens and cell lines, yeast, and zebrafish models to elucidate the fundamental role of PYROXD1 in skeletal muscle. Exome sequencing identified recessive variants in PYROXD1 in nine probands from five families. Affected individuals presented in infancy or childhood with slowly progressive proximal and distal weakness, facial weakness, nasal speech, swallowing difficulties, and normal to moderately elevated creatine kinase...
September 28, 2016: American Journal of Human Genetics
Máire A Duggan, William F Anderson, Sean Altekruse, Lynne Penberthy, Mark E Sherman
The Surveillance, Epidemiology, and End Results (SEER) program of the National Cancer Institute collects data on cancer diagnoses, treatment, and survival for approximately 30% of the United States (US) population. To reflect advances in research and oncology practice, approaches to cancer control are evolving from simply enumerating the development of cancers by organ site in populations to including monitoring of cancer occurrence by histopathologic and molecular subtype, as defined by driver mutations and other alterations...
October 12, 2016: American Journal of Surgical Pathology
Rebecca O Barnes, Katheryn E Shea, Peter H Watson
As health research increasingly relies on biospecimens and associated data, new demands have emerged for biorepositories to provide assurances of the quality of their overall operations, not just assurances of the quality of the biospecimens and data that they hold. The biobanking community has responded in various ways, including the creation of two different programs to disseminate biobanking best practices. This article describes in detail the Canadian Tissue Repository Network (CTRNet) Biobank Certification Program and the College of American Pathologists (CAP) Biorepository Accreditation Program...
October 14, 2016: Biopreservation and Biobanking
Mario Plebani
A body of evidence collected in the last few decades demonstrates that the pre- and post-analytical phases of the testing cycle are more error-prone than the analytical phase. However, the paradigm of errors and quality in laboratory medicine has been questioned, analytical mistakes continuing to be a major cause of adverse clinical outcomes and patient harm. Although the brain-to-brain concept is widely recognized in the community of laboratory professionals, there is lack of clarity concerning the inter-relationship between the different phases of the cycle, interdependence between the pre-analytical phase and analytical quality, and the effect of the post-analytical steps on the quality of ultimate laboratory information...
October 12, 2016: Clinical Chemistry and Laboratory Medicine: CCLM
James P B O'Connor, Eric O Aboagye, Judith E Adams, Hugo J W L Aerts, Sally F Barrington, Ambros J Beer, Ronald Boellaard, Sarah E Bohndiek, Michael Brady, Gina Brown, David L Buckley, Thomas L Chenevert, Laurence P Clarke, Sandra Collette, Gary J Cook, Nandita M deSouza, John C Dickson, Caroline Dive, Jeffrey L Evelhoch, Corinne Faivre-Finn, Ferdia A Gallagher, Fiona J Gilbert, Robert J Gillies, Vicky Goh, John R Griffiths, Ashley M Groves, Steve Halligan, Adrian L Harris, David J Hawkes, Otto S Hoekstra, Erich P Huang, Brian F Hutton, Edward F Jackson, Gordon C Jayson, Andrew Jones, Dow-Mu Koh, Denis Lacombe, Philippe Lambin, Nathalie Lassau, Martin O Leach, Ting-Yim Lee, Edward L Leen, Jason S Lewis, Yan Liu, Mark F Lythgoe, Prakash Manoharan, Ross J Maxwell, Kenneth A Miles, Bruno Morgan, Steve Morris, Tony Ng, Anwar R Padhani, Geoff J M Parker, Mike Partridge, Arvind P Pathak, Andrew C Peet, Shonit Punwani, Andrew R Reynolds, Simon P Robinson, Lalitha K Shankar, Ricky A Sharma, Dmitry Soloviev, Sigrid Stroobants, Daniel C Sullivan, Stuart A Taylor, Paul S Tofts, Gillian M Tozer, Marcel van Herk, Simon Walker-Samuel, James Wason, Kaye J Williams, Paul Workman, Thomas E Yankeelov, Kevin M Brindle, Lisa M McShane, Alan Jackson, John C Waterton
Imaging biomarkers (IBs) are integral to the routine management of patients with cancer. IBs used daily in oncology include clinical TNM stage, objective response and left ventricular ejection fraction. Other CT, MRI, PET and ultrasonography biomarkers are used extensively in cancer research and drug development. New IBs need to be established either as useful tools for testing research hypotheses in clinical trials and research studies, or as clinical decision-making tools for use in healthcare, by crossing 'translational gaps' through validation and qualification...
October 11, 2016: Nature Reviews. Clinical Oncology
Angèle Gayet-Ageron, Sandrine Rudaz, Thomas Perneger
The objectives of the study were to assess patients' intent to participate in a hospital-based biobank and to explore the factors associated with higher participation. A 23-item questionnaire was developed to survey a random sample of patients in a Swiss university hospital. Two vignettes describing hypothetical biobanks were incorporated in the survey and patients were asked whether they would agree to participate. Three factors were randomly manipulated in each vignette using a factorial design: cancer-oriented research vs general consent, one vs several reviews of the patient's chart, and genetic vs blood protein analyses (first vignette); blood sample vs oral swabbing, local vs international project, and a follow-up visit vs no visit (second vignette)...
October 5, 2016: European Journal of Human Genetics: EJHG
Martin Prince Alphonse, Trang T Duong, Chisato Shumitzu, Truong Long Hoang, Brian W McCrindle, Alessandra Franco, Stéphane Schurmans, Dana J Philpott, Martin L Hibberd, Jane Burns, Taco W Kuijpers, Rae S M Yeung
Kawasaki disease (KD) is a multisystem vasculitis that predominantly targets the coronary arteries in children. Phenotypic similarities between KD and recurrent fever syndromes point to the potential role of inflammasome activation in KD. Mutations in NLRP3 are associated with recurrent fever/autoinflammatory syndromes. We show that the KD-associated genetic polymorphism in inositol-triphosphate 3-kinase C (ITPKC) (rs28493229) has important functional consequences, governing ITPKC protein levels and thereby intracellular calcium, which in turn regulates NLRP3 expression and production of IL-1β and IL-18...
September 30, 2016: Journal of Immunology: Official Journal of the American Association of Immunologists
Jesse N Nodora, Ian K Komenaka, Marcia E Bouton, Lucila Ohno-Machado, Richard Schwab, Hyeon-Eui Kim, Claudiu Farcas, Giovanna Perez, Maria Elena Martinez
Biospecimen donation is key to the Precision Medicine Initiative, which pioneers a model for accelerating biomedical research through individualized care. Personalized medicine should be made available to medically underserved populations, including the large and growing US Hispanic population. We present results of a study of 140 Hispanic women who underwent a breast biopsy at a safety-net hospital and were randomly assigned to receive information and request for consent for biospecimen and data sharing by the patient's physician or a research assistant...
February 2017: Journal of the National Cancer Institute
Ruth Schübel, Mirja E Graf, Johanna Nattenmüller, Diana Nabers, Disorn Sookthai, Laura F Gruner, Theron Johnson, Christopher L Schlett, Oyunbileg von Stackelberg, Romy Kirsten, Nina Habermann, Mario Kratz, Hans-Ulrich Kauczor, Cornelia M Ulrich, Rudolf Kaaks, Tilman Kühn
Mechanistic studies suggest benefits of intermittent calorie restriction (ICR) in chronic disease prevention that may exceed those of continuous calorie restriction (CCR), even at equal net calorie intake. Despite promising results from first trials, it remains largely unknown whether ICR-induced metabolic alterations reported from experimental studies can also be observed in humans, and whether ICR diets are practicable and effective in real life situations. Thus, we initiated the HELENA Trial to test the effects of ICR (eu-caloric diet on five days and very low energy intake on two days per week) on metabolic parameters and body composition over one year...
September 28, 2016: Contemporary Clinical Trials
Claire Lewis, Stephen McQuaid, Peter W Hamilton, Manuel Salto-Tellez, Darragh McArt, Jacqueline A James
Repositories containing high quality human biospecimens linked with robust and relevant clinical and pathological information are required for the discovery and validation of biomarkers for disease diagnosis, progression and response to treatment. Current molecular based discovery projects using either low or high throughput technologies rely heavily on ready access to such sample collections. It is imperative that modern biobanks align with molecular diagnostic pathology practices not only to provide the type of samples needed for discovery projects but also to ensure requirements for ongoing sample collections and the future needs of researchers are adequately addressed...
November 2016: European Journal of Cancer
Angela Beaton, Maui Hudson, Moe Milne, Ramari Viola Port, Khyla Russell, Barry Smith, Valmaine Toki, Lynley Uerata, Phillip Wilcox, Karen Bartholomew, Helen Wihongi
PURPOSE: He Tangata Kei Tua, a relationship model for biobanks, was developed to facilitate best practice in addressing Māori ethical concerns by guiding culturally informed policy and practice for biobanks in relation to governance, operational, and community engagement activities. METHODS: The model is based on key issues of relevance to Māori that were identified as part of the Health Research Council of New Zealand-funded research project, Te Mata Ira (2012-2015)...
September 15, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
K M Antony, P Hemarajata, J Chen, J Morris, C Cook, D Masalas, M Gedminas, A Brown, J Versalovic, K Aagaard
OBJECTIVE: There is a dearth of biospecimen repositories available to perinatal researchers. In order to address this need, here we describe the methodology used to establish such a resource. STUDY DESIGN: With the collaboration of, we generated an online perinatal database with 847 fields of clinical information. Simultaneously, we established a biospecimen repository of the same clinical participants. RESULTS: The demographic and clinical outcomes data are described for the first 10 000 participants enrolled...
September 15, 2016: Journal of Perinatology: Official Journal of the California Perinatal Association
Mariana Arevalo, Paul B Jacobsen, Clement K Gwede, Cathy D Meade, Gwendolyn P Quinn, John S Luque, Gloria San Miguel, Dale Watson, Kristen J Wells
Few research studies with non-English-speaking audiences have been conducted to explore community members' views on biospecimen donation and banking, and no validated Spanish-language multi-scale instruments exist to measure community perspectives on biobanking. This study describes the development and psychometric properties of the Biobanking Attitudes aNd Knowledge Survey-Spanish (BANKS-SP). The BANKS was translated into Spanish using the Brislin method of translation. Draft BANKS-SP items were refined through cognitive interviews, and psychometric properties were assessed in a sample of 85 Spanish-speaking individuals recruited at various community events in a three county area in central west Florida, USA...
September 15, 2016: Journal of Community Genetics
Ayano Tanabe, Terumasa Hibi, Sari Ipponjima, Kenji Matsumoto, Masafumi Yokoyama, Makoto Kurihara, Nobuyuki Hashimoto, Tomomi Nemoto
No abstract text is available yet for this article.
December 1, 2016: Journal of Biomedical Optics
Johann Wilhelm Schneider, Micheline Sanderson, Dieter Geiger, Mostafa Nokta, Sylvia Silver
Sub-Saharan Africa has one of the highest incidences of infection with HIV globally, but more people in this region are living longer owing to increased access to antiretroviral therapy. However, along with increased care and treatment, this population is expected to have an increase in HIV-associated cancers, as is being seen in the USA and other developed countries. To support translational research in HIV-associated cancers, Stellenbosch University in Cape Town, South Africa, was funded to house the state-of-the-art AIDS and Cancer Specimen Resource Sub-Saharan Africa Regional Biorepository (SSA RBR) to proactively obtain, manage and process biospecimens and associated clinical data representing both AIDS-defining and non-AIDS-defining cancers for research...
September 2016: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
María Lourdes Garza-Rodríguez, Antonio Alí Pérez-Maya, Daniela Estefanía Monsivais-Ovalle, Juan Francisco Velázquez-Vadillo, Hugo Alberto Barrera-Saldaña
A biobank facility is one of the most valuable means that academic medical organizations have to offer researchers for improving the competitiveness of their medical research. We describe the implementation of our institutional biobank. Our efforts focused on the design and equipment of work areas, staff training, quality control, bioethical and regulatory issues, generating research collaborations and developing funding strategies. We implemented an institutional biobank at the School of Medicine of the Autonomous University of Nuevo León, Mexico...
August 2016: Salud Pública de México
Sandra L Taylor, L Renee Ruhaak, Robert H Weiss, Karen Kelly, Kyoungmi Kim
MOTIVATION: High through-put mass spectrometry (MS) is now being used to profile small molecular compounds across multiple biological sample types from the same subjects with the goal of leveraging information across biospecimens. Multivariate statistical methods that combine information from all biospecimens could be more powerful than the usual univariate analyses. However, missing values are common in MS data and imputation can impact between-biospecimen correlation and multivariate analysis results...
September 4, 2016: Bioinformatics
Bronwen E Shaw, Theresa Hahn, Paul J Martin, Sandra A Mitchell, Effie W Petersdorf, Gregory T Armstrong, Nonniekaye Shelburne, Barry E Storer, Smita Bhatia
The increasing numbers of hematopoietic cell transplantations (HCTs) performed each year, the changing demographics of HCT recipients, the introduction of new transplantation strategies, incremental improvement in survival, and the growing population of HCT survivors demand a comprehensive approach to examining the health and well-being of patients throughout life after HCT. This report summarizes strategies for the conduct of research on late effects after transplantation, including consideration of the study design and analytic approaches; methodologic challenges in handling complex phenotype data; an appreciation of the changing trends in the practice of transplantation; and the availability of biospecimens to support laboratory-based research...
August 30, 2016: Biology of Blood and Marrow Transplantation
Jonathan D Loe, D Alex Winkelman, Christopher T Robertson
Medical and public health research includes surveys, interviews, and biospecimens - techniques that do not present substantial risks to subjects. Consequently, this research is exempt from regulation under the Federal Common Rule. Nevertheless, at many institutions, exempt research is frequently subject to the same regulatory process that is required for non-exempt research, requiring the consumption of time and resources for review by Institutional Review Board members or staff. The federal government has indicated an intention to reform and centralize this system, but has not yet specified the form that it will use instead...
September 2016: Journal of Law, Medicine & Ethics: a Journal of the American Society of Law, Medicine & Ethics
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"