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Laboratory genetics

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https://www.readbyqxmd.com/read/29334348/assessing-the-readiness-of-precision-medicine-interoperabilty-an-exploratory-study-of-the-national-institutes-of-health-genetic-testing-registry
#1
Jay G Ronquillo, Chunhua Weng, William T Lester
BACKGROUND:   Precision medicine involves three major innovations currently taking place in healthcare:  electronic health records, genomics, and big data.  A major challenge for healthcare providers, however, is understanding the readiness for practical application of initiatives like precision medicine. OBJECTIVE:   To better understand the current state and challenges of precision medicine interoperability using a national genetic testing registry as a starting point, placed in the context of established interoperability formats...
November 17, 2017: Journal of Innovation in Health Informatics
https://www.readbyqxmd.com/read/29334187/surveying-the-landscape-of-optogenetic-methods-for-detection-of-protein-protein-interactions
#2
REVIEW
Matthew D Wiens, Robert E Campbell
Mapping the protein-protein interaction (PPi) landscape is of critical importance to furthering our understanding how cells and organisms function. Optogenetic methods, that is, approaches that utilize genetically encoded fluorophores or fluorogenic enzyme reactions, uniquely enable the visualization of biochemical phenomena in live cells with high spatial and temporal accuracy. Applying optogenetic methods to the detection of PPis requires the engineering of protein-based systems in which an optical signal undergoes a substantial change when the two proteins of interest interact...
January 15, 2018: Wiley Interdisciplinary Reviews. Systems Biology and Medicine
https://www.readbyqxmd.com/read/29334169/impact-of-baseline-clinical-and-laboratory-features-on-the-risk-of-thrombosis-in-children-with-acute-lymphoblastic-leukemia-a-prospective-evaluation
#3
Uma H Athale, T Mizrahi, C Laverdière, T Nayiager, Y-L Delva, G Foster, L Thabane, M David, J-M Leclerc, A K C Chan
BACKGROUND: Children with acute lymphoblastic leukemia (ALL) have increased risk of thromboembolism (TE). However, the predictors of ALL-associated TE are as yet uncertain. OBJECTIVE: This exploratory, prospective cohort study evaluated the effects of clinical (age, gender, ALL risk group) and laboratory variables (hematological parameters, ABO blood group, inherited and acquired prothrombotic defects [PDs]) at diagnosis on the development of symptomatic TE (sTE) in children (aged 1 to ≤18) treated on the Dana-Farber Cancer Institute ALL 05-001 study...
January 15, 2018: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29333833/-infrequent-mutation-in-renal-coloboma-syndrome-case-report-and-review
#4
Ignacio Ruiz Del Olmo Izuzquiza, Yolanda Romero Salas, Ana Rodríguez Valle, Inmaculada González Viejo, María L Justa Roldán
Renal-coloboma syndrome is an autosomal dominant disease characterized by renal hypodysplasia and coloboma. A case of a 12-year-old girl with chronic kidney disease, bilateral optic nerve colobomas and an exceptional PAX-2 gene mutation is presented. Diagnosed in prenatal scans with bilateral renal hypoplasia, she presented clinical and laboratory findings of chronic kidney disease at 5 days of life. Following tests showed grade II bilateral vesicoureteral reflux spontaneously solved, maintained non nephrotic proteinuria controlled with enalapril and bilateral colobomas with left macular atrophy...
February 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29332973/metabologenomics-of-phaeochromocytoma-and-paraganglioma-an-integrated-approach-for-personalised-biochemical-and-genetic-testing
#5
REVIEW
Graeme Eisenhofer, Barbara Klink, Susan Richter, Jacques Wm Lenders, Mercedes Robledo
The tremendous advances over the past two decades in both clinical genetics and biochemical testing of chromaffin cell tumours have led to new considerations about how these aspects of laboratory medicine can be integrated to improve diagnosis and management of affected patients. With germline mutations in 15 genes now identified to be responsible for over a third of all cases of phaeochromocytomas and paragangliomas, these tumours are recognised to have one of the richest hereditary backgrounds among all neoplasms...
April 2017: Clinical Biochemist. Reviews
https://www.readbyqxmd.com/read/29331443/strengthen-federal-regulation-of-laboratory-developed-and-direct-to-consumer-genetic-testing
#6
Angela R Starkweather, Bernice Coleman, Veronica Barcelona de Mendoza, Mei R Fu, Victoria Menzies, Mary O'Keefe, Janet K Williams
No abstract text is available yet for this article.
November 27, 2017: Nursing Outlook
https://www.readbyqxmd.com/read/29330969/is-salinity-an-obstacle-for-biological-invasions
#7
Filipa Paiva, Andrea Barco, Yiyong Chen, Alireza Mirzajani, Farrah T Chan, Velda Lauringson, Miguel Baltazar-Soares, Aibin Zhan, Sarah A Bailey, Jamileh Javidpour, Elizabeta Briski
Invasions of freshwater habitats by marine and brackish species have become more frequent in recent years with many of those species originating from the Ponto-Caspian region. Populations of Ponto-Caspian species have successfully established in the North and Baltic Seas and their adjoining rivers, as well as in the Great Lakes-St. Lawrence River region. To determine if Ponto-Caspian taxa more readily acclimatize to and colonize diverse salinity habitats than taxa from other regions, we conducted laboratory experiments on 22 populations of eight gammarid species native to the Ponto-Caspian, Northern European and Great Lakes-St...
January 13, 2018: Global Change Biology
https://www.readbyqxmd.com/read/29330797/testing-acute-oxygen-sensing-in-genetically-modified-mice-plethysmography-and-amperometry
#8
Patricia Ortega-Sáenz, Candela Caballero, Lin Gao, José López-Barneo
Monitoring responsiveness to acute hypoxia of whole animals and single cells is essential to investigate the nature of the mechanisms underlying oxygen (O2) sensing. Here we describe the protocols followed in our laboratory to evaluate the ventilatory response to hypoxia in normal and genetically modified animals. We also describe the amperometric technique used to monitor single-cell catecholamine release from chemoreceptor cells in carotid body and adrenal medulla slices.
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29327715/de-novo-pure-erythroid-leukemia-refining-the-clinicopathologic-and-cytogenetic-characteristics-of-a-rare-entity
#9
Erica F Reinig, Patricia T Greipp, April Chiu, Matthew T Howard, Kaaren K Reichard
Per the revised fourth edition World Health Organization classification of acute myeloid leukemia, pure erythroid leukemia is now the sole type of acute erythroid leukemia. The diagnosis of this rare entity is often challenging and the cytologic overlap with non-neoplastic (eg, megaloblastic anemia) and neoplastic entities (eg, other types of acute leukemia and non-hematopoietic malignancies) warrants a significant degree of clinical, laboratory, immunophenotypic, and genetic investigation. Given the limited number of reports of this rare and diagnostically challenging entity, we report detailed clinicopathologic characteristics from 15 patients, the largest series thus far, of primary de novo pure erythroid leukemia to provide further diagnostic insights into this entity and reveal strategies for making the diagnosis...
January 12, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29326146/prior-authorization-requirements-for-proprotein-convertase-subtilisin-kexin-type-9-inhibitors-across-us-private-and-public-payers
#10
Jalpa A Doshi, Justin T Puckett, Michael S Parmacek, Daniel J Rader
BACKGROUND: Proprotein convertase subtilisin/kexin type 9 inhibitors (PCSK9is) are an innovative treatment option for patients with familial hypercholesterolemia or clinical atherosclerotic cardiovascular disease who require further lowering of low-density lipoprotein cholesterol. However, the high costs of these agents have spurred payers to implement utilization management policies to ensure appropriate use. We examined prior authorization (PA) requirements for PCSK9is across private and public US payers...
January 2018: Circulation. Cardiovascular Quality and Outcomes
https://www.readbyqxmd.com/read/29325442/pooled-generation-of-lentiviral-tetracycline-regulated-microrna-embedded-short-hairpin-rna-libraries
#11
Felix Ferdinand Adams, Thomas Hoffmann, Johannes Zuber, Dirk Heckl, Axel Schambach, Adrian Schwarzer
Short hairpin RNA (shRNA) screens are powerful tools to probe genetic dependencies in loss-of-function studies, like the identification of therapeutic targets in cancer research. Lentivirally delivered shRNAs embedded in endogenous microRNA contexts (shRNAmiRs) mediate efficient long-term suppression of target genes suitable for numerous experimental contexts and clinical applications. Here, we describe an easy-to-use laboratory protocol covering the design and pooled assembly of focused shRNAmiR libraries into an optimized, Tet-inducible all-in-one lentiviral vector, packaging of viral particles, followed by retrieval and quantification of hairpin sequences after cellular DNA-recovery...
January 12, 2018: Human Gene Therapy Methods
https://www.readbyqxmd.com/read/29325287/-the-diagnostic-value-and-limits-of-diagnostic-parameters-for-wilson-s-disease
#12
X Yang
Wilson disease (WD) is a rare and treatable genetic disorder. This paper describes the new advances and author's long-term experiences in the diagnosis of WD. The characteristics in clinical and routine tests are: the age of presentation can be quite broad, the WD could not be excluded based on age only; the patients usually have mild digestive symptoms but obvious chronic liver disease signs; liver function tests may reveal normal or a mild elevation in bilirubin, ALT and AST, but quite abnormal in serum albumin and prothrombin time in most patients; Coombs-negative hemolytic anemia, normal or markedly subnormal serum alkaline phosphatase (typically < 40 IU/L) are useful for the diagnosis of fulminant WD...
December 20, 2017: Zhonghua Gan Zang Bing za Zhi, Zhonghua Ganzangbing Zazhi, Chinese Journal of Hepatology
https://www.readbyqxmd.com/read/29325040/phenotypic-evaluation-and-characterization-of-twenty-one-industrial-saccharomyces-cerevisiae-yeast-strains
#13
In Iok Kong, Timothy Lee Turner, Heejin Kim, Soo Rin Kim, Yong-Su Jin
Microorganisms have been studied and used extensively to produce value-added fuels and chemicals. Yeast, specifically Saccharomyces cerevisiae, receive industrial attention because of their well-known ability to ferment glucose and produce ethanol. Thousands of natural or genetically-modified S. cerevisiae have been found in industrial environments for various purposes. These industrial strains are isolated from industrial fermentation sites and they are considered as potential host strains for superior fermentation processes...
January 9, 2018: FEMS Yeast Research
https://www.readbyqxmd.com/read/29324951/signs-and-symptoms-in-gaucher-disease-priority-nursing-diagnoses
#14
Márcia Koja Breigeiron, Vitória da Costa Moraes, Janice Carneiro Coelho
OBJECTIVE: Identify the signs and symptoms of patients with Gaucher Disease, inferring possible priority nursing diagnoses. METHOD: Cross-sectional study, developed in a specialized laboratory, between 2013 and 2015. The sample (n = 91) comprised the records of patients with genetic diagnosis for Gaucher Disease. The study respected research norms. RESULTS: Prevalence of female sex (57.1%), age at diagnosis between 0 and 10 years, and origin from the Southeast Region of Brazil were prevalent...
January 2018: Revista Brasileira de Enfermagem
https://www.readbyqxmd.com/read/29323668/professional-responsibilities-regarding-the-provision-publication-and-dissemination-of-patient-phenotypes-in-the-context-of-clinical-genetic-and-genomic-testing-points-to-consider-a-statement-of-the-american-college-of-medical-genetics-and-genomics-acmg
#15
Lynn W Bush, Anita E Beck, Leslie G Biesecker, James P Evans, Ada Hamosh, Ingrid A Holm, Christa L Martin, C Sue Richards, Heidi L Rehm
Disclaimer: This Points to Consider document is designed as an educational resource to provide best practices for medical genetic clinicians, laboratories, and journals regarding the provision, publication, and dissemination of patient phenotypes in the context of genomic testing, clinical genetic practice, and research. While the goal of the document is the improvement of patient care, the considerations and practices described should not be considered inclusive of all proper considerations and practices or exclusive of others that are reasonably directed to obtaining the same goal...
January 11, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29322462/methods-to-determine-mutational-trajectories-after-experimental-evolution-of-antibiotic-resistance
#16
Douglas L Huseby, Diarmaid Hughes
The evolution of bacterial resistance to antibiotics by mutation within the genome (as distinct from horizontal gene transfer of new material into a genome) could occur in a single step but is usually a multistep process. Resistance evolution can be studied in laboratory environments by serial passage of bacteria in liquid culture or on agar, with selection at constant, or varying, concentrations of drug. Whole genome sequencing can be used to make an initial analysis of the evolved mutants. The trajectory of evolution can be determined by sequence analysis of strains from intermediate steps in the evolution, complemented by phenotypic analysis of genetically reconstructed isogenic strains that recapitulate the intermediate steps in the evolution...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29322089/the-wisconsin-registry-for-alzheimer-s-prevention-a-review-of-findings-and-current-directions
#17
REVIEW
Sterling C Johnson, Rebecca L Koscik, Erin M Jonaitis, Lindsay R Clark, Kimberly D Mueller, Sara E Berman, Barbara B Bendlin, Corinne D Engelman, Ozioma C Okonkwo, Kirk J Hogan, Sanjay Asthana, Cynthia M Carlsson, Bruce P Hermann, Mark A Sager
The Wisconsin Registry for Alzheimer's Prevention is a longitudinal observational cohort study enriched with persons with a parental history (PH) of probable Alzheimer's disease (AD) dementia. Since late 2001, Wisconsin Registry for Alzheimer's Prevention has enrolled 1561 people at a mean baseline age of 54 years. Participants return for a second visit 4 years after baseline, and subsequent visits occur every 2 years. Eighty-one percent (1270) of participants remain active in the study at a current mean age of 64 and 9 years of follow-up...
2018: Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring
https://www.readbyqxmd.com/read/29320575/azp-531-an-unacylated-ghrelin-analog-improves-food-related-behavior-in-patients-with-prader-willi-syndrome-a-randomized-placebo-controlled-trial
#18
Soraya Allas, Assumpta Caixàs, Christine Poitou, Muriel Coupaye, Denise Thuilleaux, Françoise Lorenzini, Gwenaëlle Diene, Antonino Crinò, Frédéric Illouz, Graziano Grugni, Diane Potvin, Sarah Bocchini, Thomas Delale, Thierry Abribat, Maithé Tauber
CONTEXT AND OBJECTIVE: Prader-Willi syndrome (PWS) is characterized by early-onset hyperphagia and increased circulating levels of the orexigenic Acylated Ghrelin (AG) hormone with a relative deficit of Unacylated Ghrelin (UAG). AZP-531, a first-in-class UAG analog, was shown to inhibit the orexigenic effect of AG in animals, to improve glycemic control and decrease body weight in humans. We aimed to investigate the safety and efficacy of AZP-531 in patients with PWS for whom no approved treatment for hyperphagia is currently available...
2018: PloS One
https://www.readbyqxmd.com/read/29318647/realizing-effectiveness-across-continents-with-hydroxyurea-enrollment-and-baseline-characteristics-of-the-multicenter-reach-study-in-sub-saharan-africa
#19
Patrick T McGann, Thomas N Williams, Peter Olupot-Olupot, George A Tomlinson, Adam Lane, José Luís Reis da Fonseca, Robert Kitenge, George Mochamah, Ham Wabwire, Susan Stuber, Thad A Howard, Kathryn McElhinney, Banu Aygun, Teresa Latham, Brígida Santos, Léon Tshilolo, Russell E Ware
Despite its well-described safety and efficacy in the treatment of sickle cell anemia (SCA) in high-income settings, hydroxyurea remains largely unavailable in sub-Saharan Africa, where more than 75% of annual SCA births occur and many comorbidities exist. Realizing Effectiveness Across Continents with Hydroxyurea (REACH, ClinicalTrials.gov NCT01966731) is a prospective, Phase I/II open-label trial of hydroxyurea designed to evaluate the feasibility, safety, and benefits of hydroxyurea treatment for children with SCA in four sub-Saharan African countries...
January 10, 2018: American Journal of Hematology
https://www.readbyqxmd.com/read/29318559/imaging-proteolytic-activities-in-mouse-models-of-cancer
#20
Anupama Pal, Alnawaz Rehemtulla
Proteases are "protein-cleaving" enzymes, which, in addition to their non-specific degrading function, also catalyze the highly specific and regulated process of proteolytic processing, thus regulating multiple biological functions. Alterations in proteolytic activity occur during pathological conditions such as cancer. One of the major deregulated classes of proteases in cancer is caspases, the proteolytic initiators and mediators of the apoptotic machinery. The ability to image apoptosis noninvasively in living cells and animal models of cancer can not only provide new insight into the biological basis of the disease but can also be used as a quantitative tool to screen and evaluate novel therapeutic strategies...
2018: Methods in Molecular Biology
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