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https://www.readbyqxmd.com/read/28815849/molecular-aspects-of-uterine-diseases-in-dogs
#1
REVIEW
R Hagman
Uterine diseases are common in dogs, particularly in countries where elective spaying is not usually performed. The associated clinical illnesses may be of varying degree ranging from merely decreased fertility to a critical pyometra requiring intensive care to survive. The diagnosis of some uterine diseases is generally uncomplicated, such as in a classic pyometra presenting with enlarged, fluid-filled uterus, purulent vaginal discharge and characteristic signs of illness or in other disorders associated with uterine enlargement...
August 2017: Reproduction in Domestic Animals, Zuchthygiene
https://www.readbyqxmd.com/read/28803549/comparative-gut-microbiota-and-resistome-profiling-of-intensive-care-patients-receiving-selective-digestive-tract-decontamination-and-healthy-subjects
#2
Elena Buelow, Teresita D J Bello González, Susana Fuentes, Wouter A A de Steenhuijsen Piters, Leo Lahti, Jumamurat R Bayjanov, Eline A M Majoor, Johanna C Braat, Maaike S M van Mourik, Evelien A N Oostdijk, Rob J L Willems, Marc J M Bonten, Mark W J van Passel, Hauke Smidt, Willem van Schaik
BACKGROUND: The gut microbiota is a reservoir of opportunistic pathogens that can cause life-threatening infections in critically ill patients during their stay in an intensive care unit (ICU). To suppress gut colonization with opportunistic pathogens, a prophylactic antibiotic regimen, termed "selective decontamination of the digestive tract" (SDD), is used in some countries where it improves clinical outcome in ICU patients. Yet, the impact of ICU hospitalization and SDD on the gut microbiota remains largely unknown...
August 14, 2017: Microbiome
https://www.readbyqxmd.com/read/28793145/role-of-genetic-testing-in-inherited-cardiovascular-disease-a-review
#3
Allison L Cirino, Stephanie Harris, Neal K Lakdawala, Michelle Michels, Iacopo Olivotto, Sharlene M Day, Dominic J Abrams, Philippe Charron, Colleen Caleshu, Christopher Semsarian, Jodie Ingles, Harry Rakowski, Daniel P Judge, Carolyn Y Ho
Importance: Genetic testing is a valuable tool for managing inherited cardiovascular disease in patients and families, including hypertrophic, dilated, and arrhythmogenic cardiomyopathies and inherited arrhythmias. By identifying the molecular etiology of disease, genetic testing can improve diagnostic accuracy and refine family management. However, unique features associated with genetic testing affect the interpretation and application of results and differentiate it from traditional laboratory-based diagnostics...
August 9, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/28755059/nusinersen-the-first-option-beyond-supportive-care-for-spinal-muscular-atrophy
#4
REVIEW
Vikas Maharshi, Shazia Hasan
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by degeneration of spinal motor neurons and poses significant adverse outcome in affected population. Survival motor neuron 1 (SMN1) protein encoded by SMN1 gene located on 5q(13) is critical for survival and functioning of motor neurons. Almost identical gene SMN2, present on the same chromosome, produces a small truncated protein (SMN2) because of skipping of exon 7 from translation due to translation silent C6U substitution in exon 7 of SMN2 pre-mRNA transcript...
July 28, 2017: Clinical Drug Investigation
https://www.readbyqxmd.com/read/28754681/nitric-oxide-modulates-macrophage-responses-to-mycobacterium-tuberculosis-infection-through-activation-of-hif-1%C3%AE-and-repression-of-nf-%C3%AE%C2%BAb
#5
Jonathan Braverman, Sarah A Stanley
IFN-γ is essential for control of Mycobacterium tuberculosis infection in vitro and in vivo. However, the mechanisms by which IFN-γ controls infection remain only partially understood. One of the crucial IFN-γ target genes required for control of M. tuberculosis is inducible NO synthase (iNOS). Although NO produced by iNOS is thought to have direct bactericidal activity against M. tuberculosis, the role of NO as a signaling molecule has been poorly characterized in the context M. tuberculosis infection. In this study, we found that iNOS broadly regulates the macrophage transcriptome during M...
July 28, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28751446/gene-copy-number-estimation-from-targeted-next-generation-sequencing-of-prostate-cancer-biopsies-analytic-validation-and-clinical-qualification
#6
George Seed, Wei Yuan, Joaquin Mateo, Suzanne Carreira, Claudia Bertan, Maryou Lambros, Gunther Boysen, Roberta Ferraldeschi, Susana Miranda, Ines Figueiredo, Ruth Riisnaes, Mateus Crespo, Daniel Nava Rodrigues, Eric Talevich, Dan R Robinson, Lakshmi P Kunju, Yi-Mi Wu, Robert Lonigro, Shahneen Sandhu, Arul Chinnayan, Johann S de Bono
Abstract <p>Purpose</p> <p>Precise detection of copy number aberrations (CNAs) from tumor biopsies is critically important to the treatment of metastatic prostate cancer. The use of targeted panel next generation sequencing (NGS) is inexpensive, high throughput and easily feasible, allowing single nucleotide variant calls, but CNA estimation from this remains challenging..</p> <p>Experimental Design</p> <p>We evaluated CNVkit for CNA identification from amplicon-based targeted NGS in a cohort of 110 fresh castration resistant prostate cancer biopsies, and used capture based whole exome sequencing (WES), array comparative genomic hybridization (aCGH), and fluorescent in situ hybridization (FISH) to explore the viability of this approach...
July 27, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28750088/a-single-nucleotide-polymorphism-causes-enhanced-radical-oxygen-species-production-by-human-aldehyde-oxidase
#7
Alessandro Foti, Frank Dorendorf, Silke Leimkühler
Aldehyde oxidases (AOXs) are molybdo-flavoenzymes characterized by broad substrate specificity, oxidizing aromatic/aliphatic aldehydes into the corresponding carboxylic acids and hydroxylating various heteroaromatic rings. The enzymes use oxygen as the terminal electron acceptor and produce reduced oxygen species during turnover. The physiological function of mammalian AOX isoenzymes is still unclear, however, human AOX (hAOX1) is an emerging enzyme in phase-I drug metabolism. Indeed, the number of xenobiotics acting as hAOX1 substrates is increasing...
2017: PloS One
https://www.readbyqxmd.com/read/28749054/the-precision-medicine-nation
#8
Maya Sabatello, Paul S Appelbaum
The United States' ambitious Precision Medicine Initiative proposes to accelerate exponentially the adoption of precision medicine, an approach to health care that tailors disease diagnosis, treatment, and prevention to individual variability in genes, environment, and lifestyle. It aims to achieve this by creating a cohort of volunteers for precision medicine research, accelerating biomedical research innovation, and adopting policies geared toward patients' empowerment. As strategies to implement the PMI are formulated, critical consideration of the initiative's ethical and sociopolitical dimensions is needed...
July 2017: Hastings Center Report
https://www.readbyqxmd.com/read/28737744/delivering-advanced-therapies-the-big-pharma-approach
#9
REVIEW
J Tarnowski, D Krishna, L Jespers, A Ketkar, R Haddock, J Imrie, S Kili
After two decades of focused development and some recent clinical successes, cell and gene therapy (CGT) is emerging as a promising approach to personalized medicines. Genetically engineered cells as a medical modality are poised to stand alongside or in combination with small molecule and biopharmaceutical approaches to bring new therapies to patients globally. Big pharma can play a vital role in industrializing CGT by focusing on diseases with high un-met medical need and compelling genetic evidence. Pharma should invest in manufacturing and supply chain solutions that deliver reproducible, high quality therapies at a commercially viable cost...
July 24, 2017: Gene Therapy
https://www.readbyqxmd.com/read/28710215/a-study-protocol-for-an-observational-cohort-investigating-cognitive-outcomes-and-wellness-in-survivors-of-critical-illness-the-cogwell-study
#10
M Elizabeth Wilcox, Andrew S Lim, Mary P McAndrews, Richard A Wennberg, Ruxandra L Pinto, Sandra E Black, Karolina D Walczak, Jan O Friedrich, Michael S Taglione, Gordon D Rubenfeld
INTRODUCTION: Up to 9 out of 10 intensive care unit (ICU) survivors will suffer some degree of cognitive impairment at hospital discharge and approximately half will have decrements that persist for years. The mechanisms for this newly acquired brain injury are poorly understood. The purpose of this study is to describe the prevalence of sleep abnormalities and their association with cognitive impairment, examine a well-known genetic risk factor for dementia (Apolipoprotein E ε4) that may allow for genetic risk stratification of ICU survivors at greatest risk of cognitive impairment and determine if electroencephalography (EEG) is an independent predictor of long-term cognitive impairment and possibly a candidate intermediate end point for future clinical trials...
July 13, 2017: BMJ Open
https://www.readbyqxmd.com/read/28705583/prevalence-and-risk-factors-for-colonization-by-clostridium-difficile-and-extended-spectrum-%C3%AE-lactamase-producing-enterobacteriaceae-in-rehabilitation-clinics-in-germany
#11
Mardjan Arvand, Claudia Ruscher, Gudrun Bettge-Weller, Markus Goltz, Yvonne Pfeifer
BACKGROUND: Rehabilitation clinics may vary widely in terms of type of care provided, duration of hospital stay, and case severity. Only few data are available on prevalence of Clostridium difficile or extended-spectrum β-lactamase-producing Enterobacteriaceae (ESBL-E) colonization in rehabilitation clinics in Germany. AIM: This study investigated the frequency of intestinal colonization by these pathogens among patients in rehabilitation clinics of different specialization...
July 10, 2017: Journal of Hospital Infection
https://www.readbyqxmd.com/read/28700339/trypsin-protease-activated-receptor-2-signaling-contributes-to-pancreatic-cancer-pain
#12
Jiao Zhu, Xue-Rong Miao, Kun-Ming Tao, Hai Zhu, Zhi-Yun Liu, Da-Wei Yu, Qian-Bo Chen, Hai-Bo Qiu, Zhi-Jie Lu
Pain treatment is a critical aspect of pancreatic cancer patient clinical care. This study investigated the role of trypsin-protease activated receptor-2 (PAR-2) in pancreatic cancer pain. Pancreatic tissue samples were collected from pancreatic cancer (n=22) and control patients (n=22). Immunofluorescence analyses confirmed colocalization of PAR-2 and neuronal markers in pancreatic cancer tissues. Trypsin levels and protease activities were higher in pancreatic cancer tissue specimens than in the controls...
June 27, 2017: Oncotarget
https://www.readbyqxmd.com/read/28697292/fragile-x-associated-disorders-don-t-miss-them
#13
Rachael C Birch, Jonathan Cohen, Julian N Trollor
BACKGROUND: Fragile X-associated disorders are a family of inherited disorders caused by expansions in the Fragile X Mental Retardation 1 (FMR1) gene. Premutation expansions of the FMR1 gene confer risk for fragile X-associated primary ovarian insufficiency and fragile X-associated tremor ataxia syndrome, as well as other medical and psychiatric comorbidities. Premutation expansions of the FMR1 gene are common in the general population. However, fragile X-associated disorders are frequently under-recognised and often misdiagnosed...
2017: Australian Family Physician
https://www.readbyqxmd.com/read/28691507/genetic-basis-of-positive-and-negative-symptom-domains-in-schizophrenia
#14
Rose Mary Xavier, Allison Vorderstrasse
Schizophrenia is a highly heritable disorder, the genetic etiology of which has been well established. Yet despite significant advances in genetics research, the pathophysiological mechanisms of this disorder largely remain unknown. This gap has been attributed to the complexity of the polygenic disorder, which has a heterogeneous clinical profile. Examining the genetic basis of schizophrenia subphenotypes, such as those based on particular symptoms, is thus a useful strategy for decoding the underlying mechanisms...
January 1, 2017: Biological Research for Nursing
https://www.readbyqxmd.com/read/28665968/high-dose-thiamine-prevents-brain-lesions-and-prolongs-survival-of-slc19a3-deficient-mice
#15
Kaoru Suzuki, Kenichiro Yamada, Yayoi Fukuhara, Ai Tsuji, Katsumi Shibata, Nobuaki Wakamatsu
SLC19A3 deficiency, also called thiamine metabolism dysfunction syndrome-2 (THMD2; OMIM 607483), is an autosomal recessive neurodegenerative disorder caused by mutations in SLC19A3, the gene encoding thiamine transporter 2. To investigate the molecular mechanisms of neurodegeneration in SLC19A3 deficiency and whether administration of high-dose thiamine prevents neurodegeneration, we generated homozygous Slc19a3 E314Q knock-in (KI) mice harboring the mutation corresponding to the human SLC19A3 E320Q, which is associated with the severe form of THMD2...
2017: PloS One
https://www.readbyqxmd.com/read/28659355/deficiency-of-phosphatidylinositol-3-kinase-%C3%AE-signaling-leads-to-diminished-numbers-of-regulatory-t-cells-and-increased-neutrophil-activity-resulting-in-mortality-due-to-endotoxic-shock
#16
Emeka B Okeke, Zhirong Mou, Nonso Onyilagha, Ping Jia, Abdelilah S Gounni, Jude E Uzonna
Despite decades of clinical and biomedical research, the pathogenesis of sepsis and its spectrum of diseases (severe sepsis and septic shock), which are leading causes of death in intensive care units, are still poorly understood. In this article, we show that signaling via the p110δ isoform of PI3K is critical for survival in experimental sepsis. Mice with an inactive knock-in mutation in the p110δ gene (p110δ(D910A)) succumbed acutely to nonlethal dose LPS challenge. The susceptibility of p110δ(D910A) mice to LPS was associated with increased neutrophil numbers and activities in the tissues, due in part to delayed apoptosis resulting mostly from inherent reduced regulatory T cell (Treg) numbers...
June 28, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28651171/the-relevance-of-inter-and-intrastrain-differences-in-mice-and-rats-and-their-implications-for-models-of-seizures-and-epilepsy
#17
REVIEW
Wolfgang Löscher, Russell J Ferland, Thomas N Ferraro
It is becoming increasingly clear that the genetic background of mice and rats, even in inbred strains, can have a profound influence on measures of seizure susceptibility and epilepsy. These differences can be capitalized upon through genetic mapping studies to reveal genes important for seizures and epilepsy. However, strain background and particularly mixed genetic backgrounds of transgenic animals need careful consideration in both the selection of strains and in the interpretation of results and conclusions...
June 23, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28647693/recognition-investigation-and-management-of-mitochondrial-disease
#18
REVIEW
James E Davison, Shamima Rahman
Mitochondria are dynamic organelles present in virtually all human cells that are needed for a multitude of cellular functions, including energy production, control of cell apoptosis and numerous biochemical catabolic and synthetic pathways that are critical for cellular health. Primary mitochondrial disorders are a group of greater than 200 single gene defects arising from two genomes (nuclear and mitochondrial) leading to mitochondrial dysfunction, and are associated with extremely heterogeneous phenotypes...
June 24, 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28639200/treatment-of-liver-cancer-by-c-ebpa-sarna
#19
Xiaoyang Zhao, Jon Voutila, Stephanos Ghobrial, Nagy A Habib, Vikash Reebye
The prognosis for hepatocellular carcinoma (HCC) remains poor and has not improved in over two decades. Most patients with advanced HCC who are not eligible for surgery have limited treatment options due to poor liver function or large, unresectable tumors. Although sorafenib is the standard-of-care treatment for these patients, only a small number respond. For the remaining, the outlook remains bleak. A better approach to target "undruggable" molecular pathways that reverse HCC is therefore urgently needed...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28637751/ifit2-is-a-restriction-factor-in-rabies-virus-pathogenicity
#20
Benjamin M Davis, Volker Fensterl, Tessa M Lawrence, Andrew W Hudacek, Ganes C Sen, Matthias J Schnell
Understanding the interactions between rabies virus (RABV) and individual host cell proteins is critical for the development of targeted therapies. Here we report that Interferon-induced protein with tetratricopeptide repeats 2 (Ifit2), an interferon-stimulated gene (ISG) with possible RNA-binding capacity, is an important restriction factor for rabies virus. When Ifit2 was depleted, RABV grew more quickly in mouse neuroblastoma in vitro This effect was replicated in vivo, where Ifit2 knockout mice displayed a dramatically more severe disease phenotype than wild-type after intranasal inoculation of RABV...
June 21, 2017: Journal of Virology
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