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https://www.readbyqxmd.com/read/28906323/novel-method-enabling-the-use-of-cryopreserved-primary-acute-myeloid-leukemia-cells-in-functional-drug-screens
#1
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...
September 12, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28857146/recessive-mutations-in-ndufa2-cause-mitochondrial-leukoencephalopathy
#2
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
#3
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
#4
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
#5
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
https://www.readbyqxmd.com/read/28818355/ar-v7-in-peripheral-whole-blood-of-patients-with-castration-resistant-prostate-cancer-association-with-treatment-specific-outcome-under-abiraterone-and-enzalutamide
#6
Anna Katharina Seitz, Silvia Thoene, Andreas Bietenbeck, Roman Nawroth, Robert Tauber, Mark Thalgott, Sebastian Schmid, Ramona Secci, Margitta Retz, Jürgen E Gschwend, Jürgen Ruland, Christof Winter, Matthias M Heck
BACKGROUND: It has been demonstrated that androgen receptor splice variant 7 (AR-V7) expression in circulating tumor cells (CTCs) predicts poor treatment response in metastatic castration-resistant prostate cancer (mCRPC) patients treated with abiraterone or enzalutamide. OBJECTIVE: To develop a practical and robust liquid profiling approach for direct quantification of AR-V7 in peripheral whole blood without the need for CTC capture and to determine its potential for predicting treatment response in mCRPC patients...
August 14, 2017: European Urology
https://www.readbyqxmd.com/read/28815116/reducing-clinical-noise-for-body-mass-index-measures-due-to-unit-and-transcription-errors-in-the-electronic-health-record
#7
Robert Goodloe, Eric Farber-Eger, Jonathan Boston, Dana C Crawford, William S Bush
Body mass index (BMI) is an important outcome and covariate adjustment for many clinical association studies. Accurate assessment of BMI, therefore, is a critical part of many study designs. Electronic health records (EHRs) are a growing source of clinical data for research purposes, and have proven useful for identifying and replicating genetic associations. EHR-based data collected for clinical and billing purposes have several unique properties, including a high degree of heterogeneity or "clinical noise...
2017: AMIA Summits on Translational Science Proceedings
https://www.readbyqxmd.com/read/28815105/extracting-country-of-origin-from-electronic-health-records-for-gene-environment-studies-as-part-of-the-epidemiologic-architecture-for-genes-linked-to-environment-eagle-study
#8
Eric Farber-Eger, Robert Goodloe, Jonathan Boston, William S Bush, Dana C Crawford
We describe here the extraction of country-of-origin, an acculturation variable relevant for gene-environment studies, in a biorepository linked to de-identified electronic health records (EHRs) assessed by the Epidemiologic Architecture for Genes Linked to Environment (EAGLE), a study site of the Population Architecture using Genomics and Epidemiology (PAGE) I study. We extracted country-of-origin from the unstructured clinical free text using regular expressions within the MySQL relational database system in a cohort of 15,863 subjects of mostly non-European descent (including 11,519 African Americans, 1,702 Hispanics, and 1,118 Asians)...
2017: AMIA Summits on Translational Science Proceedings
https://www.readbyqxmd.com/read/28814312/rationale-and-design-of-the-brigham-cohort-for-psoriasis-and-psoriatic-arthritis-registry-coppar
#9
Maria Schneeweiss, Joseph F Merola, Elizabeth W Karlson, Daniel H Solomon
BACKGROUND: Psoriasis (PsO) and psoriatic arthritis (PsA) are related conditions with poorly defined transition among them, risk factors for progression, complex treatment algorithms, and biomarkers for treatment response and long-term outcomes. We describe the development of a PsO/PsA registry at an academic medical center. METHODS: We developed a single-center PsO/PsA longitudinal disease registry including biorepository that captures relevant disease markers and treatment choices in a circumscribed population with a defined catchment area...
August 16, 2017: BMC Dermatology
https://www.readbyqxmd.com/read/28767408/integration-of-genomic-transcriptomic-and-functional-profiles-of-aggressive-osteosarcomas-across-multiple-species
#10
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...
July 25, 2017: Oncotarget
https://www.readbyqxmd.com/read/28750641/metabolome-alterations-in-severe-critical-illness-and-vitamin-d-status
#11
Jessica Lasky-Su, Amber Dahlin, Augusto A Litonjua, Angela J Rogers, Michael J McGeachie, Rebecca M Baron, Lee Gazourian, Diana Barragan-Bradford, Laura E Fredenburgh, Augustine M K Choi, Kris M Mogensen, Sadeq A Quraishi, Karin Amrein, Kenneth B Christopher
BACKGROUND: Metabolic homeostasis is substantially disrupted in critical illness. Given the pleiotropic effects of vitamin D, we hypothesized that metabolic profiles differ between critically ill patients relative to their vitamin D status. METHODS: We performed a metabolomics study on biorepository samples collected from a single academic medical center on 65 adults with systemic inflammatory response syndrome or sepsis treated in a 20-bed medical ICU between 2008 and 2010...
July 28, 2017: Critical Care: the Official Journal of the Critical Care Forum
https://www.readbyqxmd.com/read/28720207/thrombotic-microangiopathy-a-multidisciplinary-team%C3%A2-approach
#12
Craig E Gordon, Vipul C Chitalia, J Mark Sloan, David J Salant, David L Coleman, Karen Quillen, Katya Ravid, Jean M Francis
Thrombotic microangiopathy (TMA) is characterized by the presence of microangiopathic hemolytic anemia and thrombocytopenia along with organ dysfunction, and pathologically, by the presence of microthrombi in multiple microvascular beds. Delays in diagnosis and initiation of therapy are common due to the low incidence, variable presentation, and poor awareness of these diseases, underscoring the need for interdisciplinary approaches to clinical care for TMA. We describe a new approach to improve clinical management via a TMA team that originally stemmed from an Affinity Research Collaborative team focused on thrombosis and hemostasis...
July 15, 2017: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/28698188/a-dab2ip-genotype-sex-interaction-is-associated-with-abdominal-aortic-aneurysm-expansion
#13
Zi Ye, Erin Austin, Daniel J Schaid, Kent R Bailey, Patricia A Pellikka, Iftikhar J Kullo
A faster expansion rate of abdominal aortic aneurysm (AAA) increases the risk of rupture. Women are at higher risk of rupture than men, but the mechanisms underlying this increased risk are unknown. We investigated whether genetic variants that influence susceptibility for AAA (CDKN2A-2B, SORT1, DAB2IP, LRP1 and LDLR) are associated with AAA expansion and whether these associations differ by sex in 650 patients with AAA (mean age 70±8 years, 17% women) enrolled in the Mayo Clinic Vascular Disease Biorepository...
July 11, 2017: Journal of Investigative Medicine: the Official Publication of the American Federation for Clinical Research
https://www.readbyqxmd.com/read/28697319/renal-medullary-carcinoma-establishing-standards-in-practice
#14
Kathryn E Beckermann, Deva Sharma, Shruti Chaturvedi, Pavlos Msaouel, Miguel R Abboud, Yves Allory, Franck Bourdeaut, Julien Calderaro, Aguirre A de Cubas, Vimal K Derebail, Andrew L Hong, Rakhi P Naik, Gabriel G Malouf, Elizabeth A Mullen, Victor E Reuter, Charles W M Roberts, Cheryl L Walker, Christopher G Wood, Michael R DeBaun, Hendrik Van Poppel, Nizar M Tannir, W Kimryn Rathmell
Although renal medullary carcinoma (RMC) is a rare subtype of kidney cancer, it is particularly devastating in that it is nearly uniformly lethal. No established guidelines exist for the diagnosis and management of RMC. In April 2016, a panel of experts developed clinical guidelines on the basis of a literature review and consensus statements. The goal was to propose recommendations for standardized diagnostic and management approaches and to establish an international clinical registry and biorepository for RMC...
July 2017: Journal of Oncology Practice
https://www.readbyqxmd.com/read/28680580/plasma-acylcarnitines-are-associated-with-pulmonary-hypertension
#15
Nancy Luo, Damian Craig, Olga Ilkayeva, Michael Muehlbauer, William E Kraus, Christopher B Newgard, Svati H Shah, Sudarshan Rajagopal
Quantifying metabolic derangements in pulmonary hypertension (PH) by plasma metabolomics could identify biomarkers useful for diagnosis and treatment. The objective of this paper is to test the hypotheses that circulating metabolites are differentially expressed in PH patients compared with controls and among different hemodynamic subtypes of PH associated with left heart disease. We studied patients enrolled in the CATHGEN biorepository with PH (right heart catheterization mPAP ≥ 25 mmHg; n = 280)...
March 2017: Pulmonary Circulation
https://www.readbyqxmd.com/read/28614402/providing-researchers-with-online-access-to-nhlbi-biospecimen-collections-the-results-of-the-first-six-years-of-the-nhlbi-biolincc-program
#16
Carol A Giffen, Elizabeth L Wagner, John T Adams, Denise M Hitchcock, Lisbeth A Welniak, Sean P Brennan, Leslie E Carroll
The National Heart, Lung, and Blood Institute (NHLBI), within the United States' National Institutes of Health (NIH), established the Biologic Specimen and Data Repository Information Coordinating Center (BioLINCC) in 2008 to develop the infrastructure needed to link the contents of the NHLBI Biorepository and the NHLBI Data Repository, and to promote the utilization of these scientific resources by the broader research community. Program utilization metrics were developed to measure the impact of BioLINCC on Biorepository access by researchers, including visibility, program efficiency, user characteristics, scientific impact, and research types...
2017: PloS One
https://www.readbyqxmd.com/read/28611783/apolipoprotein-l1-genetic-variants-are-associated-with-chronic-kidney-disease-but-not-with-cardiovascular-disease-in-a-population-referred-for-cardiac-catheterization
#17
Hanghang Wang, Patrick H Pun, Lydia Kwee, Damian Craig, Carol Haynes, Megan Chryst-Ladd, Laura P Svetkey, Uptal D Patel, Elizabeth R Hauser, Martin R Pollak, William E Kraus, Svati H Shah
BACKGROUND: While the association between APOL1 genetic variants and chronic kidney disease (CKD) has been established, their association with cardiovascular disease (CVD) is unclear. This study sought to understand CKD and cardiovascular risk conferred by APOL1 variants in a secondary cardiovascular prevention population. METHODS: Two risk variants in APOL1 were genotyped in African-Americans (n = 1,641) enrolled in the CATHGEN biorepository, comprised of patients referred for cardiac catheterization at Duke University Hospital, Durham, NC, USA (2001-2010)...
February 2017: Cardiorenal Medicine
https://www.readbyqxmd.com/read/28605380/establishment-of-a-clinic-based-biorepository
#18
Sarah E Belden, Chandana K Uppalapati, Agnes S Pascual, McKale R Montgomery, Kathryn J Leyva, Elizabeth E Hull, Richard L Averitte
The incidence of skin cancer (e.g., squamous cell carcinoma, basal cell carcinoma, and melanoma) has been increasing over the past several years. It is expected that there will be a parallel demand for cutaneous tumor samples for biomedical research studies. Tissue availability, however, is limited due the cost of establishing a biorepository and the lack of protocols available for obtaining clinical samples that do not interfere with clinical operations. A protocol was established to collect and process cutaneous tumor and associated blood and saliva samples that has minimal impact on routine clinical procedures on the date of a Mohs surgery...
May 29, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28601794/obstacles-opportunities-and-priorities-for-advancing-metastatic-breast-cancer-research
#19
Margaret Flowers, Stephanie Birkey Reffey, Shirley A Mertz
In January 2016, the Metastatic Breast Cancer Alliance (the Alliance) convened a think tank of stakeholders from academia, government, industry, and patient advocacy to discuss gaps and opportunities in clinical and translational research in metastatic breast cancer. Priorities that emerged from the meeting included the following: the need for innovative preclinical model systems to study metastatic disease; increased sharing of resources and data; collaboration across cancer care teams and scientists; biorepositories for studies to identify biomarkers for treatment response; creation of patient registries to increase access to clinical trials and tissue procurement; and redesign of clinical trials in metastatic breast cancer...
July 1, 2017: Cancer Research
https://www.readbyqxmd.com/read/28538790/challenges-for-conducting-blood-collection-and-biochemical-analysis-in-a-large-multicenter-school-based-study-with-adolescents-lessons-from-erica-in-brazil
#20
MULTICENTER STUDY
Felipe Vogt Cureau, Katia Vergetti Bloch, Aline Henz, Camila W Schaan, Carlos Henrique Klein, Cecília Lacroix de Oliveira, Denise Tavares Giannini, Elisa Brosina de Leon, Gabriela de Azevedo Abreu, Gabriela Heiden Telo, Glauber Monteiro Dias, Kênia Mara Baiocchi de Carvalho, Laura Augusta Barufaldi, Maria Cristina Caetano Kuschnir, Moyses Szklo, Renan Montenegro, Thiago Luiz Nogueira da Silva, Ulf Ekelund, Beatriz D Schaan
The Study of Cardiovascular Risk in Adolescents (ERICA) is a pioneering study that aimed to assess the prevalence of cardiovascular risk factors, including metabolic syndrome components in Brazilian adolescents. This study aims to describe the methodological aspects related to blood collection as well as to report pertaining results of the preparation, transport, storage, and exams in ERICA. Exams in ERICA were performed in a single laboratory and blood samples were collected in schools in a standardized manner...
May 18, 2017: Cadernos de Saúde Pública
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