keyword
MENU ▼
Read by QxMD icon Read
search

Gene critical care

keyword
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
#1
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
#2
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
#3
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
#4
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...
December 26, 2016: European Journal of Cancer
https://www.readbyqxmd.com/read/28030828/methicillin-resistant-staphylococcus-aureus-isolates-in-a-hospital-of-shanghai
#5
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...
December 20, 2016: Oncotarget
https://www.readbyqxmd.com/read/28026041/emerging-therapies-and-challenges-in-spinal-muscular-atrophy
#6
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 towards the development of novel therapeutic strategies and are summarised...
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
#7
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 22, 2016: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/27986209/prostate-cancer-genetics-variation-by-race-ethnicity-and-geography
#8
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
https://www.readbyqxmd.com/read/27943641/genomic-variants-genes-and-pathways-of-alzheimer-s-disease-an-overview
#9
REVIEW
Adam C Naj, Gerard D Schellenberg
Alzheimer's disease (AD) (MIM: 104300) is a highly heritable disease with great complexity in its genetic contributors, and represents the most common form of dementia. With the gradual aging of the world's population, leading to increased prevalence of AD, and the substantial cost of care for those afflicted, identifying the genetic causes of disease represents a critical effort in identifying therapeutic targets. Here we provide a comprehensive review of genomic studies of AD, from the earliest linkage studies identifying monogenic contributors to early-onset forms of AD to the genome-wide and rare variant association studies of recent years that are being used to characterize the mosaic of genetic contributors to late-onset AD (LOAD), and which have identified approximately ∼20 genes with common variants contributing to LOAD risk...
January 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/27920753/neuroproteomics-and-systems-biology-approach-to-identify-temporal-biomarker-changes-post-experimental-traumatic-brain-injury-in-rats
#10
Firas H Kobeissy, Joy D Guingab-Cagmat, Zhiqun Zhang, Ahmed Moghieb, Olena Y Glushakova, Stefania Mondello, Angela M Boutté, John Anagli, Richard Rubenstein, Hisham Bahmad, Amy K Wagner, Ronald L Hayes, Kevin K W Wang
Traumatic brain injury (TBI) represents a critical health problem of which diagnosis, management, and treatment remain challenging. TBI is a contributing factor in approximately one-third of all injury-related deaths in the United States. The Centers for Disease Control and Prevention estimate that 1.7 million people suffer a TBI in the United States annually. Efforts continue to focus on elucidating the complex molecular mechanisms underlying TBI pathophysiology and defining sensitive and specific biomarkers that can aid in improving patient management and care...
2016: Frontiers in Neurology
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
#11
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
#12
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...
January 3, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/27889305/invasive-prenatal-diagnosis-of-fetal-thalassemia
#13
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
#14
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...
December 2016: Molecular Medicine Reports
https://www.readbyqxmd.com/read/27869724/mosquito-oviposition-behavior-and-vector-control
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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...
January 2017: Intensive Care Medicine
keyword
keyword
101992
1
2
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"