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https://www.readbyqxmd.com/read/28238416/quantitative-multiplexed-tandem-pcr-for-direct-detection-of-bacteraemia-in-critically-ill-patients
#1
Andrew N Ginn, Briony Hazelton, Shereen Shoma, Martin Cullen, Thomas Solano, Jonathan R Iredell
Culture remains the gold standard for diagnosis of blood stream infections (BSI), but its clinical utility is limited by slow turnaround times. Here we describe a method for rapid quantitative detection of bacterial DNA directly extracted from whole blood using a multiplexed tandem real-time PCR (MT-PCR) assay targeting Staphylococcus, Streptococcus, Pseudomonas, Enterococcus and Enterobacteriaceae 16S rDNA genes. Results were available less than 3.5 hours after blood collection with all five bacterial targets having limits of detection between 10(1) and 10(3) CFU/mL...
February 23, 2017: Pathology
https://www.readbyqxmd.com/read/28231343/occurrence-of-mitochondrial-co1-pseudogenes-in-neocalanus-plumchrus-crustacea-copepoda-hybridization-indicated-by-recombined-nuclear-mitochondrial-pseudogenes
#2
Ryuji J Machida, Ya-Ying Lin
A portion of the mitochondrial cytochrome c oxidase I gene was sequenced using both genomic DNA and complement DNA from three planktonic copepod Neocalanus species (N. cristatus, N. plumchrus, and N. flemingeri). Small but critical sequence differences in CO1 were observed between gDNA and cDNA from N. plumchrus. Furthermore, careful observation revealed the presence of recombination between sequences in gDNA from N. plumchrus. Moreover, a chimera of the N. cristatus and N. plumchrus sequences was obtained from N...
2017: PloS One
https://www.readbyqxmd.com/read/28224121/immunological-defects-in-neonatal-sepsis-and-potential-therapeutic-approaches
#3
REVIEW
Steven L Raymond, Julie A Stortz, Juan C Mira, Shawn D Larson, James L Wynn, Lyle L Moldawer
Despite advances in critical care medicine, neonatal sepsis remains a major cause of morbidity and mortality worldwide, with the greatest risk affecting very low birth weight, preterm neonates. The presentation of neonatal sepsis varies markedly from its presentation in adults, and there is no clear consensus definition of neonatal sepsis. Previous work has demonstrated that when neonates become septic, death can occur rapidly over a matter of hours or days and is generally associated with inflammation, organ injury, and respiratory failure...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28222102/anln-truncation-causes-a-familial-fatal-acute-respiratory-distress-syndrome-in-dalmatian-dogs
#4
Saila Holopainen, Marjo K Hytönen, Pernilla Syrjä, Meharji Arumilli, Anna-Kaisa Järvinen, Minna Rajamäki, Hannes Lohi
Acute respiratory distress syndrome (ARDS) is the leading cause of death in critical care medicine. The syndrome is typified by an exaggerated inflammatory response within the lungs. ARDS has been reported in many species, including dogs. We have previously reported a fatal familial juvenile respiratory disease accompanied by occasional unilateral renal aplasia and hydrocephalus, in Dalmatian dogs. The condition with a suggested recessive mode of inheritance resembles acute exacerbation of usual interstitial pneumonia in man...
February 21, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28214222/necessity-to-critically-review-the-automatic-results-of-the-xpert-flu-assay
#5
Ilka Engelmann, Enagnon Kazali Alidjinou, Mouna Lazrek, Anny Dewilde, Didier Hober
While using the Xpert Flu assay we became aware of false-negative results. The study aimed to analyze the causes of these false-negative results. One hundred fifty-nine respiratory specimens were tested in the Xpert Flu assay and in multiplex reverse transcription-polymerase chain reactions (RT-PCRs) for respiratory viruses. Discordant specimens were tested in the Influenza A/B r-gene assay. One hundred fifty-two (96%) and 151 (95%) specimens yielded concordant results for influenza A and B, respectively. Fifteen specimens tested negative in the Xpert Flu assay and positive in a multiplex RT-PCR...
February 2, 2017: Diagnostic Microbiology and Infectious Disease
https://www.readbyqxmd.com/read/28213050/reduced-frequency-of-two-activating-kir-genes-in-patients-with-sepsis
#6
Luciana M Oliveira, Pamela Portela, Joice Merzoni, Juliana D Lindenau, Fernando S Dias, Jaqueline Beppler, Pietra Graebin, Clarice S Alho, Gilberto Schwartsmann, Felipe Dal-Pizzol, Luiz Fernando Jobim, Mariana Jobim, Rafael Roesler
Natural killer (NK) cell activity is regulated by activating and inhibitory signals transduced by killer cell immunoglobulin-like receptors (KIR). Diversity in KIR gene repertoire among individuals may affect disease outcome. Sepsis development and severity may be influenced by genetic factors affecting the immune response. Here, we examined sixteen KIR genes and their human leucocyte antigen (HLA) class I ligands in critical patients, aiming to identify patterns that could be associated with sepsis. Male and female patients (ages ranging between 14 and 94years-old) were included...
February 14, 2017: Human Immunology
https://www.readbyqxmd.com/read/28211064/selecting-postoperative-adjuvant-systemic-therapy-for-early-stage-breast-cancer-a-critical-assessment-of-commercially-available-gene-expression-assays
#7
REVIEW
David M Hyams, Eric Schuur, Javier Angel Aristizabal, Juan Enrique Bargallo Rocha, Cesar Cabello, Roberto Elizalde, Laura García-Estévez, Henry L Gomez, Artur Katz, Aníbal Nuñez De Pierro
Risk stratification of patients with early stage breast cancer may support adjuvant chemotherapy decision-making. This review details the development and validation of six multi-gene classifiers, each of which claims to provide useful prognostic and possibly predictive information for early stage breast cancer patients. A careful assessment is presented of each test's analytical validity, clinical validity, and clinical utility, as well as the quality of evidence supporting its use.
February 17, 2017: Journal of Surgical Oncology
https://www.readbyqxmd.com/read/28203225/regulation-of-sterol-biosynthesis-in-the-human-fungal-pathogen-aspergillus-fumigatus-opportunities-for-therapeutic-development
#8
REVIEW
Sourabh Dhingra, Robert A Cramer
Sterols are a major component of eukaryotic cell membranes. For human fungal infections caused by the filamentous fungus Aspergillus fumigatus, antifungal drugs that target sterol biosynthesis and/or function remain the standard of care. Yet, an understanding of A. fumigatus sterol biosynthesis regulatory mechanisms remains an under developed therapeutic target. The critical role of sterol biosynthesis regulation and its interactions with clinically relevant azole drugs is highlighted by the basic helix loop helix (bHLH) class of transcription factors known as Sterol Regulatory Element Binding Proteins (SREBPs)...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28185119/biallelic-brca2-mutations-in-two-black-south-african-children-with-fanconi-anaemia
#9
Candice Feben, Careni Spencer, Anneline Lochan, Nakita Laing, Karen Fieggen, Engela Honey, Tasha Wainstein, Amanda Krause
Fanconi anaemia (FA) is a genotypically and phenotypically heterogeneous genetic condition, characterized cytogenetically by chromosomal instability and breakage secondary to impaired DNA repair mechanisms. Affected individuals typically manifest growth restriction and congenital physical abnormalities and most progress to hematological disease including bone marrow aplasia. A rare genetic subtype of FA (FA-D1) is caused by biallelic mutations in the BRCA2 gene. Affected individuals manifest severe congenital anomalies and significant pigmentary changes and are additionally at risk for early onset leukemia and certain solid organ malignancies, including Wilms tumors and brain tumors...
February 9, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28129117/immunosuppressive-myeloid-cells-blockade-in-the-glioma-microenvironment-enhances-the-efficacy-of-immune-stimulatory-gene-therapy
#10
Neha Kamran, Padma Kadiyala, Meghna Saxena, Marianela Candolfi, Youping Li, Mariela A Moreno-Ayala, Nicholas Raja, Diana Shah, Pedro R Lowenstein, Maria G Castro
Survival of glioma (GBM) patients treated with the current standard of care remains dismal. Immunotherapeutic approaches that harness the cytotoxic and memory potential of the host immune system have shown great benefit in other cancers. GBMs have developed multiple strategies, including the accumulation of myeloid-derived suppressor cells (MDSCs) to induce immunosuppression. It is therefore imperative to develop multipronged approaches when aiming to generate a robust anti-tumor immune response. Herein, we tested whether combining MDSC depletion or checkpoint blockade would augment the efficacy of immune-stimulatory herpes simplex type-I thymidine kinase (TK) plus Fms-like tyrosine kinase ligand (Flt3L)-mediated immune stimulatory gene therapy...
January 4, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28106320/classification-of-genes-standardized-clinical-validity-assessment-of-gene-disease-associations-aids-diagnostic-exome-analysis-and-reclassifications
#11
Erica D Smith, Kelly Radtke, Mari Rossi, Deepali N Shinde, Sourat Darabi, Dima El-Khechen, Zöe Powis, Katherine Helbig, Kendra Waller, Dorothy K Grange, Sha Tang, Kelly D Farwell Hagman
Ascertaining a diagnosis through exome sequencing can provide potential benefits to patients, insurance companies, and the healthcare system. Yet as diagnostic sequencing is increasingly employed, vast amounts of human genetic data are produced that need careful curation. We discuss methods for accurately assessing the clinical validity of gene-disease relationships to interpret new research findings in a clinical context and increase the diagnostic rate. The specifics of a gene-disease scoring system adapted for use in a clinical laboratory are described...
January 20, 2017: Human Mutation
https://www.readbyqxmd.com/read/28102514/carbapenemase-producing-klebsiella-pneumoniae-bloodstream-infection-in-critically-ill-patients-risk-factors-and-predictors-of-mortality
#12
M Papadimitriou-Olivgeris, F Fligou, C Bartzavali, A Zotou, A Spyropoulou, K Koutsileou, S Vamvakopoulou, N Sioulas, V Karamouzos, E D Anastassiou, I Spiliopoulou, M Christofidou, M Marangos
A significant increase in carbapenemase-producing Klebsiella pneumoniae (CP-Kp) bacteraemias has been observed worldwide. The objective of the present work was to study the risk factors and predictors of mortality of CP-Kp bacteraemias among critically ill patients. During a 4-year period (2012-3015), a matched 1:2 case-control study was conducted. Klebsiella pneumoniae was identified by Vitek 2 technology. Antibiotic susceptibility was performed by the agar disc diffusion method and Etest. The presence of the bla KPC, bla VIM and bla NDM genes was confirmed by polymerase chain reaction (PCR)...
January 19, 2017: European Journal of Clinical Microbiology & Infectious Diseases
https://www.readbyqxmd.com/read/28068459/does-pharmacogenomic-testing-improve-clinical-outcomes-for-major-depressive-disorder-a-systematic-review-of-clinical-trials-and-cost-effectiveness-studies
#13
Joshua D Rosenblat, Yena Lee, Roger S McIntyre
OBJECTIVE: Pharmacogenomic testing has become scalable and available to the general public. Pharmacogenomics has shown promise for predicting antidepressant response and tolerability in the treatment of major depressive disorder (MDD). In theory, pharmacogenomics can improve clinical outcomes by guiding antidepressant selection and dosing. The current systematic review examines the extant literature to determine the impact of pharmacogenomic testing on clinical outcomes in MDD and assesses its cost-effectiveness...
January 3, 2017: Journal of Clinical Psychiatry
https://www.readbyqxmd.com/read/28050887/assessment-of-in-silico-protein-sequence-analysis-in-the-clinical-classification-of-variants-in-cancer-risk-genes
#14
Iain D Kerr, Hannah C Cox, Kelsey Moyes, Brent Evans, Brianna C Burdett, Aric van Kan, Heather McElroy, Paris J Vail, Krystal L Brown, Dechie B Sumampong, Nicholas J Monteferrante, Kennedy L Hardman, Aaron Theisen, Erin Mundt, Richard J Wenstrup, Julie M Eggington
Missense variants represent a significant proportion of variants identified in clinical genetic testing. In the absence of strong clinical or functional evidence, the American College of Medical Genetics recommends that these findings be classified as variants of uncertain significance (VUS). VUSs may be reclassified to better inform patient care when new evidence is available. It is critical that the methods used for reclassification are robust in order to prevent inappropriate medical management strategies and unnecessary, life-altering surgeries...
January 3, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28036056/genetic-regulation-of-virulence-and-antibiotic-resistance-in-acinetobacter-baumannii
#15
REVIEW
Carsten Kröger, Stefani C Kary, Kristina Schauer, Andrew D S Cameron
Multidrug resistant microorganisms are forecast to become the single biggest challenge to medical care in the 21st century. Over the last decades, members of the genus Acinetobacter have emerged as bacterial opportunistic pathogens, in particular as challenging nosocomial pathogens because of the rapid evolution of antimicrobial resistances. Although we lack fundamental biological insight into virulence mechanisms, an increasing number of researchers are working to identify virulence factors and to study antibiotic resistance...
December 28, 2016: Genes
https://www.readbyqxmd.com/read/28033528/neuroblastoma-survivors-are-at-increased-risk-for-second-malignancies-a-report-from-the-international-neuroblastoma-risk-group-project
#16
Mark A Applebaum, Zalman Vaksman, Sang Mee Lee, Eric A Hungate, Tara O Henderson, Wendy B London, Navin Pinto, Samuel L Volchenboum, Julie R Park, Arlene Naranjo, Barbara Hero, Andrew D Pearson, Barbara E Stranger, Susan L Cohn, Sharon J Diskin
BACKGROUND: The incidence of second malignant neoplasm (SMN) within the first ten years of diagnosis in high-risk neuroblastoma patients treated with modern, intensive therapy is unknown. Further, the underlying germline genetics that contribute to SMN in these survivors are not known. METHODS: The International Neuroblastoma Risk Group (INRG) database of patients diagnosed from 1990 to 2010 was analysed. SMN risk was accessed by cumulative incidence, standardised incidence ratios (SIRs) and absolute excess risk...
February 2017: European Journal of Cancer
https://www.readbyqxmd.com/read/28030828/methicillin-resistant-staphylococcus-aureus-isolates-in-a-hospital-of-shanghai
#17
Xiaoguang Wang, Lin Ouyang, Lingfei Luo, Jiqian Liu, Chiping Song, Cuizhen Li, Hongjing Yan, Ping Wang
Methicillin-resistant Staphylococcus aureus (MRSA) strains are now common both in the health care setting and in the community. Active surveillance is critical for MRSA control and prevention. Specimens of patients (200 patients with 1119 specimens) as well as medical staff and hospital setting (1000 specimens) were randomly sampled in a level 2 hospital in Shanghai from September 2011 to August 2012. Isolation, cultivation and identification of S. aureus were performed. Totally, 67 S. aureus strains were isolated...
January 24, 2017: Oncotarget
https://www.readbyqxmd.com/read/28026041/emerging-therapies-and-challenges-in-spinal-muscular-atrophy
#18
REVIEW
Michelle A Farrar, Susanna B Park, Steve Vucic, Kate A Carey, Bradley J Turner, Thomas H Gillingwater, Kathryn J Swoboda, Matthew C Kiernan
Spinal muscular atrophy (SMA) is a hereditary neurodegenerative disease with severity ranging from progressive infantile paralysis and premature death (type I) to limited motor neuron loss and normal life expectancy (type IV). Without disease-modifying therapies, the impact is profound for patients and their families. Improved understanding of the molecular basis of SMA, disease pathogenesis, natural history, and recognition of the impact of standardized care on outcomes has yielded progress toward the development of novel therapeutic strategies and are summarized...
December 27, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/28017569/a-targeted-high-throughput-next-generation-sequencing-panel-for-clinical-screening-of-mutations-gene-amplifications-and-fusions-in-solid-tumors
#19
Rajyalakshmi Luthra, Keyur P Patel, Mark J Routbort, Russell R Broaddus, Jonathan Yau, Crystal Simien, Wei Chen, David Z Hatfield, L Jeffrey Medeiros, Rajesh R Singh
Clinical next-generation sequencing (NGS) assay choice requires careful consideration of panel size, inclusion of appropriate markers, ability to detect multiple genomic aberration types, compatibility with low quality and quantity of nucleic acids, and work flow feasibility. Herein, in a high-volume clinical molecular diagnostic laboratory, we have validated a targeted high-multiplex PCR-based NGS panel (OncoMine Comprehensive Assay) coupled with high-throughput sequencing using Ion Proton sequencer for routine screening of solid tumors...
December 23, 2016: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/27986209/prostate-cancer-genetics-variation-by-race-ethnicity-and-geography
#20
REVIEW
Timothy R Rebbeck
Prostate cancer rates vary substantially by race, ethnicity, and geography. These disparities can be explained by variation in access to screening and treatment, variation in exposure to prostate cancer risk factors, and variation in the underlying biology of prostate carcinogenesis (including genomic propensity of some groups to develop biologically aggressive disease). It is clear that access to screening and access to treatment are critical influencing factors of prostate cancer rates; yet, even among geographically diverse populations with similar access to care (eg, low- and medium-income countries), African descent men have higher prostate cancer rates and poorer prognosis...
January 2017: Seminars in Radiation Oncology
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