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https://www.readbyqxmd.com/read/27902779/differential-cytokine-gene-expression-in-granulomas-from-lungs-and-lymph-nodes-of-cattle-experimentally-infected-with-aerosolized-mycobacterium-bovis
#1
Mitchell V Palmer, Tyler C Thacker, W Ray Waters
The hallmark lesion of tuberculosis in humans and animals is the granuloma. The granuloma represents a distinct host cellular immune response composed of epithelioid macrophages, lymphocytes, and multinucleated giant cells, often surrounding a caseous necrotic core. Within the granuloma, host-pathogen interactions determine disease outcome. Factors within the granulomas such as cytokines and chemokines drive cell recruitment, activity, function and ultimately the success or failure of the host's ability to control infection...
2016: PloS One
https://www.readbyqxmd.com/read/27893462/biallelic-mutations-in-irf8-impair-human-nk-cell-maturation-and-function
#2
Emily M Mace, Venetia Bigley, Justin T Gunesch, Ivan K Chinn, Laura S Angelo, Matthew A Care, Sheetal Maisuria, Michael D Keller, Sumihito Togi, Levi B Watkin, David F LaRosa, Shalini N Jhangiani, Donna M Muzny, Asbjørg Stray-Pedersen, Zeynep Coban Akdemir, Jansen B Smith, Mayra Hernández-Sanabria, Duy T Le, Graham D Hogg, Tram N Cao, Aharon G Freud, Eva P Szymanski, Sinisa Savic, Matthew Collin, Andrew J Cant, Richard A Gibbs, Steven M Holland, Michael A Caligiuri, Keiko Ozato, Silke Paust, Gina M Doody, James R Lupski, Jordan S Orange
Human NK cell deficiencies are rare yet result in severe and often fatal disease, particularly as a result of viral susceptibility. NK cells develop from hematopoietic stem cells, and few monogenic errors that specifically interrupt NK cell development have been reported. Here we have described biallelic mutations in IRF8, which encodes an interferon regulatory factor, as a cause of familial NK cell deficiency that results in fatal and severe viral disease. Compound heterozygous or homozygous mutations in IRF8 in 3 unrelated families resulted in a paucity of mature CD56dim NK cells and an increase in the frequency of the immature CD56bright NK cells, and this impairment in terminal maturation was also observed in Irf8-/-, but not Irf8+/-, mice...
November 28, 2016: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/27889305/invasive-prenatal-diagnosis-of-fetal-thalassemia
#3
REVIEW
Dong-Zhi Li, Yan-Dong Yang
Thalassemia is the most common monogenic inherited disease worldwide, affecting individuals originating from many countries to various extents. As the disease requires long-term care, prevention of the homozygous state presents a substantial global disease burden. The comprehensively preventive programs involve carrier detections, molecular diagnostics, genetic counseling, and prenatal diagnosis. Invasive prenatal diagnosis refers to obtaining fetal material by chorionic villus sampling (CVS) at the first trimester, and by amniocentesis or cordocentesis at the second trimester...
October 26, 2016: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/27878230/rapid-and-sensitive-detection-of-plesiomonas-shigelloides-by-cross%C3%A2-priming-amplification-of-the-huga-gene
#4
Shuang Meng, Yi Wang, Yan Wang, Changyun Ye
Plesiomonas shigelloides (P. shigelloides) is implicated as an aetiological agent of human gastroenteritis in humans, for which reliable laboratory detection of P. shigelloides is clinically and epidemiologically desirable. A simple molecular method for rapid detection of P. shigelloides using cross‑priming amplification (CPA) has been developed, with hugA as the target. The hugA gene is required for haem iron utilisation and is critical for the survival and growth of P. shigelloides. The assay output was visualised as a colour change with no need to open the reaction tubes, and no false‑positive results were detected for the 33 non‑ P...
November 14, 2016: Molecular Medicine Reports
https://www.readbyqxmd.com/read/27869724/mosquito-oviposition-behavior-and-vector-control
#5
REVIEW
Jonathan F Day
The burden of gene transfer from one mosquito generation to the next falls on the female and her eggs. The selection of an oviposition site that guarantees egg and larval survival is a critical step in the reproductive process. The dangers associated with ephemeral aquatic habitats, lengthy droughts, freezing winters, and the absence of larval nutrition makes careful oviposition site selection by a female mosquito extremely important. Mosquito species exhibit a remarkable diversity of oviposition behaviors that ensure eggs are deposited into microenvironments conducive for successful larval development and the emergence of the next mosquito generation...
November 18, 2016: Insects
https://www.readbyqxmd.com/read/27867757/epigenetics-media-coverage-and-parent-responsibilities-in-the-post-genomic-era
#6
Martine Lappé
Environmental epigenetics is the study of how exposures and experiences can turn genes "on" or "off" without changing DNA sequence. By examining the influence that environmental conditions including diet, stress, trauma, toxins, and care can have on gene expression, this science suggests molecular connections between the environment, genetics, and how acquired characteristics may be inherited across generations. The rapid expansion of research in this area has attracted growing media attention. This coverage has implications for how parents and prospective parents understand health and their perceived responsibilities for children's wellbeing...
September 2016: Current Genetic Medicine Reports
https://www.readbyqxmd.com/read/27864204/integrating-pharmacogenomics-into-electronic-health-records-with-clinical-decision-support
#7
J Kevin Hicks, Henry M Dunnenberger, Karl F Gumpper, Cyrine E Haidar, James M Hoffman
PURPOSE: Existing pharmacogenomic informatics models, key implementation steps, and emerging resources to facilitate the development of pharmacogenomic clinical decision support (CDS) are described. SUMMARY: Pharmacogenomics is an important component of precision medicine. Informatics, especially CDS in the electronic health record (EHR), is a critical tool for the integration of pharmacogenomics into routine patient care. Effective integration of pharmacogenomic CDS into the EHR can address implementation challenges, including the increasing volume of pharmacogenomic clinical knowledge, the enduring nature of pharmacogenomic test results, and the complexity of interpreting results...
December 1, 2016: American Journal of Health-system Pharmacy: AJHP
https://www.readbyqxmd.com/read/27854224/can-human-pluripotent-stem-cell-derived-cardiomyocytes-advance-understanding-of-muscular-dystrophies
#8
Spandan Kalra, Federica Montanaro, Chris Denning
Muscular dystrophies (MDs) are clinically and molecularly a highly heterogeneous group of single-gene disorders that primarily affect striated muscles. Cardiac disease is present in several MDs where it is an important contributor to morbidity and mortality. Careful monitoring of cardiac issues is necessary but current management of cardiac involvement does not effectively protect from disease progression and cardiac failure. There is a critical need to gain new knowledge on the diverse molecular underpinnings of cardiac disease in MDs in order to guide cardiac treatment development and assist in reaching a clearer consensus on cardiac disease management in the clinic...
August 30, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27848044/detection-of-false-positive-mutations-in-brca-gene-by-next-generation-sequencing
#9
Moushumi Suryavanshi, Dushyant Kumar, Manoj Kumar Panigrahi, Meenakshi Chowdhary, Anurag Mehta
BRCA1 and BRCA2 genes are implicated in 20-25% of hereditary breast and ovarian cancers. New age sequencing platforms have revolutionized massively parallel sequencing in clinical practice by providing cost effective, rapid, and sensitive sequencing. This study critically evaluates the false positives in multiplex panels and suggests the need for careful analysis. We employed multiplex PCR based BRCA1 and BRCA2 community Panel with ion torrent PGM machine for evaluation of these mutations. Out of all 41samples analyzed for BRCA1 and BRCA2 five were found with 950_951 insA(Asn319fs) at Chr13:32906565 position and one sample with 1032_1033 insA(Asn346fs) at Chr13:32906647, both being frame-shift mutations in BRCA2 gene...
November 15, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27837233/critically-ill-patients-demonstrate-large-interpersonal-variation-in-intestinal-microbiota-dysregulation-a-pilot-study
#10
Jacqueline M Lankelma, Lonneke A van Vught, Clara Belzer, Marcus J Schultz, Tom van der Poll, Willem M de Vos, W Joost Wiersinga
PURPOSE: The intestinal microbiota has emerged as a virtual organ with essential functions in human physiology. Antibiotic-induced disruption of the microbiota in critically ill patients may have a negative influence on key energy resources and immunity. We set out to characterize the fecal microbiota composition in critically ill patients both with and without sepsis and to explore the use of microbiota-derived markers for clinical outcome measurements in this setting. METHODS: In this prospective observational cohort study we analyzed the fecal microbiota of 34 patients admitted to the intensive care unit...
November 11, 2016: Intensive Care Medicine
https://www.readbyqxmd.com/read/27837108/characterization-and-transcriptomic-analysis-of-porcine-blood-conventional-and-plasmacytoid-dendritic-cells-reveals-striking-species-specific-differences
#11
Gael Auray, Irene Keller, Sylvie Python, Markus Gerber, Remy Bruggmann, Nicolas Ruggli, Artur Summerfield
Porcine dendritic cells (DCs) are relatively well characterized, but a clear-cut identification of all DC subsets combined with full transcriptional profiling was lacking, preventing an unbiased insight into the functional specializations of DC subsets. Using a large panel of Abs in multicolor flow cytometry, cell sorting, and RNA sequencing we identified and characterized the porcine equivalent of conventional DCs (cDC) 1 and cDC2 as well as plasmacytoid DCs (pDCs) in the peripheral blood of pigs. We demonstrate that cDC1 are CD135(+)CD14(-)CD172a(low)CADM1(+)wCD11R1(+) cells, cDC2 are CD135(+)CD14(-)CD172a(+)CADM1(+)CD115(+)wCD11R1(+)CD1(+) cells and pDCs are CD4(+)CD135(+)CD172a(+)CD123(+)CD303(+) cells...
November 11, 2016: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/27827549/advances-in-identifying-urine-serum-biomarkers-in-alpha-1-antitrypsin-deficiency-for-more-personalized-future-treatment-strategies
#12
Ilaria Ferrarotti, Angelo Guido Corsico, Jan Stolk, Stefania Ottaviani, Marco Fumagalli, Sabina Janciauskiene, Paolo Iadarola
Alpha1-antitrypsin deficiency (AATD) is a genetic disorder characterized by reduced serum levels of alpha1-antitrypsin (AAT) and increased risk for developing both early-onset lung emphysema and chronic liver disease. Laboratory diagnosis of AATD is not just a matter of degree, although the AAT serum level is the most important determinant for risk of lung damage. While being a single-gene disease, the clinical phenotype of AATD is heterogeneous. The current standard of care for patients affected by AATD-associated pulmonary emphysema is replacement therapy with weekly i...
November 9, 2016: COPD
https://www.readbyqxmd.com/read/27810681/changes-in-mammary-histology-and-transcriptome-profiles-by-low-dose-exposure-to-environmental-phenols-at-critical-windows-of-development
#13
Kalpana Gopalakrishnan, Susan L Teitelbaum, Luca Lambertini, James Wetmur, Fabiana Manservisi, Laura Falcioni, Simona Panzacchi, Fiorella Belpoggi, Jia Chen
Exposure to environmental chemicals has been linked to altered mammary development and cancer risk at high doses using animal models. Effects at low doses comparable to human exposure remain poorly understood, especially during critical developmental windows. We investigated the effects of two environmental phenols commonly used in personal care products - methyl paraben (MPB) and triclosan (TCS) - on the histology and transcriptome of normal mammary glands at low doses mimicking human exposure during critical windows of development...
January 2017: Environmental Research
https://www.readbyqxmd.com/read/27804912/emerging-therapies-for-acute-intermittent-porphyria
#14
Antonio Fontanellas, Matías A Ávila, Pedro Berraondo
Acute intermittent porphyria (AIP) is an autosomal dominant metabolic disease caused by hepatic deficiency of hydroxymethylbilane synthase (HMBS), the third enzyme of the heme synthesis pathway. The dominant clinical feature is acute neurovisceral attack associated with high production of potentially neurotoxic porphyrin precursors due to increased hepatic heme consumption. Current Standard of Care is based on a down-regulation of hepatic heme synthesis using heme therapy. Recurrent hyper-activation of the hepatic heme synthesis pathway affects about 5% of patients and can be associated with neurological and metabolic manifestations and long-term complications including chronic kidney disease and increased risk of hepatocellular carcinoma...
November 2, 2016: Expert Reviews in Molecular Medicine
https://www.readbyqxmd.com/read/27790429/act-fast-as-time-is-less-high-faecal-carriage-of-carbapenem-resistant-enterobacteriaceae-in-critical-care-patients
#15
Sanjith Saseedharan, Manisa Sahu, Edwin Joseph Pathrose, Sarita Shivdas
INTRODUCTION: Carbapenem-resistant Enterobacteriaceae (CRE) are drug-resistant Gram-negative bacteria that are present in the community as well as in hospitals. Their infection and colonisation puts critically ill patients at high risk due to the drug-resistant nature of the strains and possible spreading of these organisms, even in a hospital environment. AIM: To examine the presence and types of Enterobacteriaceae species in patients admitted directly from the community...
September 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27788614/study-of-the-role-of-tumor-necrosis-factor-%C3%AE-%C3%A2-308%C3%A2-g-a-and-interleukin-10-1082-g-a-polymorphisms-as-potential-risk-factors-to-acute-kidney-injury-in-patients-with-severe-sepsis-using-high-resolution-melting-curve-analysis
#16
Doaa I Hashad, Eman T Elsayed, Tamer A Helmy, Samier M Elawady
RATIONAL: Septic acute kidney injury (AKI) is a prevalent complication in intensive care units with an increased incidence of complications. OBJECTIVE: The aim of the present study was to assess the use of high-resolution melting curve (HRM) analysis in investigating whether the genetic polymorphisms; -308 G/A of tumor necrosis factor-α (TNF-α), and -1082 G /A of Interleukin-10 (IL-10) genes may predispose patients diagnosed with severe sepsis to the development of AKI...
October 27, 2016: Renal Failure
https://www.readbyqxmd.com/read/27753056/prevention-and-screening-in-hereditary-breast-and-ovarian-cancer
#17
Simon B Zeichner, Christine Stanislaw, Jane L Meisel
In recent years, we have learned a great deal about pathogenic mutations that increase the risk of breast and ovarian cancer, particularly mutations in the BRCA1 and BRCA2 genes. Here we review current guidelines on breast and ovarian cancer screening, prophylactic surgery, and other risk-reduction strategies in patients with these mutations, and we detail the data that drive these recommendations. We also discuss guidelines on screening and management for other cancers associated with BRCA1 and BRCA2, such as male breast cancer, pancreatic cancer, and prostate cancer...
October 15, 2016: Oncology (Williston Park, NY)
https://www.readbyqxmd.com/read/27745839/structural-chromosomal-rearrangements-require-nucleotide-level-resolution-lessons-from-next-generation-sequencing-in-prenatal-diagnosis
#18
Zehra Ordulu, Tammy Kammin, Harrison Brand, Vamsee Pillalamarri, Claire E Redin, Ryan L Collins, Ian Blumenthal, Carrie Hanscom, Shahrin Pereira, India Bradley, Barbara F Crandall, Pamela Gerrol, Mark A Hayden, Naveed Hussain, Bibi Kanengisser-Pines, Sibel Kantarci, Brynn Levy, Michael J Macera, Fabiola Quintero-Rivera, Erica Spiegel, Blair Stevens, Janet E Ulm, Dorothy Warburton, Louise E Wilkins-Haug, Naomi Yachelevich, James F Gusella, Michael E Talkowski, Cynthia C Morton
In this exciting era of "next-gen cytogenetics," integrating genomic sequencing into the prenatal diagnostic setting is possible within an actionable time frame and can provide precise delineation of balanced chromosomal rearrangements at the nucleotide level. Given the increased risk of congenital abnormalities in newborns with de novo balanced chromosomal rearrangements, comprehensive interpretation of breakpoints could substantially improve prediction of phenotypic outcomes and support perinatal medical care...
November 3, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27703398/cystic-fibrosis-transmembrane-conductance-regulator-modulators-in-cystic-fibrosis-current-perspectives
#19
Béla Z Schmidt, Jérémy B Haaf, Teresinha Leal, Sabrina Noel
Mutations of the CFTR gene cause cystic fibrosis (CF), the most common recessive monogenic disease worldwide. These mutations alter the synthesis, processing, function, or half-life of CFTR, the main chloride channel expressed in the apical membrane of epithelial cells in the airway, intestine, pancreas, and reproductive tract. Lung disease is the most critical manifestation of CF. It is characterized by airway obstruction, infection, and inflammation that lead to fatal tissue destruction. In spite of great advances in early and multidisciplinary medical care, and in our understanding of the pathophysiology, CF is still considerably reducing the life expectancy of patients...
2016: Clinical Pharmacology: Advances and Applications
https://www.readbyqxmd.com/read/27699821/dissecting-the-effects-of-antibiotics-on-horizontal-gene-transfer-analysis-suggests-a-critical-role-of-selection-dynamics
#20
Allison J Lopatkin, Tatyana A Sysoeva, Lingchong You
Horizontal gene transfer (HGT) is a major mechanism responsible for the spread of antibiotic resistance. Conversely, it is often assumed that antibiotics promote HGT. Careful dissection of the literature, however, suggests a lack of conclusive evidence supporting this notion in general. This is largely due to the lack of well-defined quantitative experiments to address this question in an unambiguous manner. In this review, we discuss the extent to which HGT is responsible for the spread of antibiotic resistance and examine what is known about the effect of antibiotics on the HGT dynamics...
October 4, 2016: BioEssays: News and Reviews in Molecular, Cellular and Developmental Biology
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