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https://www.readbyqxmd.com/read/27768389/a-missense-genetic-variant-in-lrrc16a-carmil1-improves-ards-survival-by-attenuating-platelet-count-decline
#1
Yongyue Wei, Paula Tejera, Zhaoxi Wang, Ruyang Zhang, Feng Chen, Li Su, Xihong Lin, Ednan K Bajwa, B Taylor Thompson, David C Christiani
RATIONALE: Platelets are believed to contribute to the acute respiratory distress syndrome (ARDS) pathogenesis through inflammatory coagulation pathways. We recently reported that LRRC16A modulates baseline platelet counts to mediate ARDS risk. OBJECTIVES: To examine the role of LRRC16A in ARDS survival and its mediating effect through platelets. METHODS: 414 ARDS cases from intensive care unit (ICU) were recruited which had exome-wide genotyping data, detailed platelet counts and follow-up data during ICU hospitalizaiton...
October 21, 2016: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/27592234/variants-in-lta-tnf-il1b-and-il10-genes-associated-with-the-clinical-course-of-sepsis
#2
Carolina Montoya-Ruiz, Fabián A Jaimes, Maria T Rugeles, Juan Álvaro López, Gabriel Bedoya, Paula A Velilla
The aim of this study was to explore the association between some SNPs of the TNF, LTA, IL1B and IL10 genes with cytokine concentrations and clinical course in Colombian septic patients. We conducted a cross-sectional study to genotype 415 septic patients and 205 patients without sepsis for the SNPs -308(G/A) rs1800629 of TNF; +252 (G/A) rs909253 of LTA; -511(A/G) rs16944 and +3953(C/T) rs1143634 of IL1B; and -1082(A/G) rs1800896, -819(C/T) rs1800871 and -592(C/A) rs1800872 of IL10. The association of theses SNPs with the following parameters was evaluated: (1) the presence of sepsis; (2) severity and clinical outcomes; (3) APACHE II and SOFA scores; and (4) procalcitonin, C-reactive protein, tumor necrosis factor, lymphotoxin alpha, interleukin 1 beta and interleukin 10 plasma concentrations...
September 3, 2016: Immunologic Research
https://www.readbyqxmd.com/read/27488084/melanocortin-1-receptor-polymorphisms-and-the-risk-of-complicated-sepsis-after-trauma-a-candidate-gene-association-study
#3
Max E Seaton, Brodie A Parent, Ravi F Sood, Mark M Wurfel, Lara A Muffley, Grant E O'Keefe, Nicole S Gibran
OBJECTIVE: To determine if melanocortin-1 receptor (MC1R) single nucleotide polymorphisms (SNPs) are associated with complicated sepsis after trauma. BACKGROUND: Nosocomial infections are an important cause of morbidity and mortality after trauma. Several SNPs in inflammation-related genes have been associated with sepsis. MC1R is an anti-inflammatory mediator that may be involved in the immune response after trauma. METHODS: We genotyped 8 common MC1R SNPs in genomic DNA from subjects enrolled in a previously reported prospective cohort study...
August 2, 2016: Shock
https://www.readbyqxmd.com/read/27185645/real-time-application-of-whole-genome-sequencing-for-outbreak-investigation-what-is-an-achievable-turnaround-time
#4
Patrick McGann, Jessica L Bunin, Erik Snesrud, Seema Singh, Rosslyn Maybank, Ana C Ong, Yoon I Kwak, Scott Seronello, Robert J Clifford, Mary Hinkle, Stephen Yamada, Jason Barnhill, Emil Lesho
Whole genome sequencing (WGS) is increasingly employed in clinical settings, though few assessments of turnaround times (TAT) have been performed in real-time. In this study, WGS was used to investigate an unfolding outbreak of vancomycin resistant Enterococcus faecium (VRE) among 3 patients in the ICU of a tertiary care hospital. Including overnight culturing, a TAT of just 48.5 h for a comprehensive report was achievable using an Illumina Miseq benchtop sequencer. WGS revealed that isolates from patient 2 and 3 differed from that of patient 1 by a single nucleotide polymorphism (SNP), indicating nosocomial transmission...
July 2016: Diagnostic Microbiology and Infectious Disease
https://www.readbyqxmd.com/read/25497738/effect-of-593c-t-gpx1-snp-alone-and-in-synergy-with-47c-t-sod2-snp-on-the-outcome-of-critically-ill-patients
#5
Fernanda Majolo, Francis Jackson de Oliveira Paludo, Aline Ponzoni, Pietra Graebin, Fernando Suparregui Dias, Clarice Sampaio Alho
During critical illness and sepsis there is severe antioxidant depletion, and this scenario raises the critical ill patient's mortality risk. Glutathione peroxidase (GPx) is one of the first endogenous antioxidant defense enzymes, and it works cooperatively with superoxide dismutase (SOD) and catalase (CAT) to detoxify free radicals from the cellular environment. Genetic studies are important to understand the complexity of human oxidative stress and how the organism responds to an extreme situation such as critically care conditions...
February 2015: Cytokine
https://www.readbyqxmd.com/read/25239655/endothelial-nos3-e298d-and-inducible-nos2-exon-22-nitric-oxide-synthase-polymorphisms-as-well-as-plasma-nox-influence-sepsis-development
#6
Guadalupe Martin, Víctor Asensi, A Hugo Montes, Julio Collazos, Victoria Alvarez, Laura Pérez-Is, José A Carton, Francisco Taboada, Eulalia Valle-Garay
INTRODUCTION: Nitric oxide (NO) influences susceptibility to infection and hemodynamic failure (HF) in sepsis. NOS3 and NOS2 SNPs might modify plasma nitrite/nitrate (NOx) levels, sepsis development, hemodynamics and survival. METHODS: 90 severely septic and 91 non-infected ICU patients were prospectively studied. NOS3 (E298D), NOS3 (-786 T/C), NOS3 (27 bp-VNTR), and NOS2A (exon 22) SNPs and plasma NOx levels were assessed. RESULTS: 21 patients (11...
November 15, 2014: Nitric Oxide: Biology and Chemistry
https://www.readbyqxmd.com/read/24872649/association-between-heat-shock-protein-70-gene-polymorphisms-and-clinical-outcomes-in-intensive-care-unit-patients-with-sepsis
#7
Kartik Ramakrishna, Srinivasan Pugazhendhi, Jayakanthan Kabeerdoss, John Victor Peter
OBJECTIVE: The objective of the following study is to evaluate the associations between single nucleotide polymorphisms (SNPs) in the Heat Shock Protein 70 (HSP70) gene, gene expression of interleukin-6 (IL-6) and tumor necrosis factor-alpha (TNF-α) and medical intensive care unit (MICU) stay and organ failure in sepsis. MATERIALS AND METHODS: MICU patients with sepsis were genotyped for rs1061581, rs2227956, rs1008438 and rs1043618 polymorphisms in HSP70 gene using polymerase chain reaction (PCR)-restriction fragment length polymorphism analysis or allele-specific PCR...
April 2014: Indian Journal of Critical Care Medicine
https://www.readbyqxmd.com/read/24626347/autophagy-related-irgm-polymorphism-is-associated-with-mortality-of-patients-with-severe-sepsis
#8
Tomonori Kimura, Eizo Watanabe, Teruo Sakamoto, Osamu Takasu, Toshiaki Ikeda, Kazumi Ikeda, Joji Kotani, Nobuya Kitamura, Tomohito Sadahiro, Yoshihisa Tateishi, Koichiro Shinozaki, Shigeto Oda
OBJECTIVE: Autophagy is the regulated catabolic process for recycling damaged or unnecessary organelles, which plays crucial roles in cell survival during nutrient deficiency, and innate immune defense against pathogenic microorganisms. Autophagy has been also reported to be involved in various conditions including inflammatory diseases. IRGM (human immunity-related GTPase) has an important function in eliminating Mycobacterium tuberculosis from host cells via autophagy. We examined the association between genetic polymorphism and clinical course/outcome in severely septic patients...
2014: PloS One
https://www.readbyqxmd.com/read/24465786/a-card9-polymorphism-is-associated-with-decreased-likelihood-of-persistent-conjugated-hyperbilirubinemia-in-intestinal-failure
#9
Karolina Maria Burghardt, Vishal Avinashi, Christina Kosar, Wei Xu, Paul W Wales, Yaron Avitzur, Aleixo Muise
Recently, genetic associations have been described in intestinal transplants. Namely, Crohn's disease susceptibility gene NOD2 polymorphisms have been reported to be more prevalent in patients with graft failure following intestinal transplantation (IT). Therefore, we sought to determine if polymorphisms in the NOD2 signaling cascade, including NOD2, CARD9, RAC1 and ATG16L1 are associated with intestinal failure (IF) or its complications. We carried out a cross-sectional study of 59 children with IF and 500 healthy Caucasian controls...
2014: PloS One
https://www.readbyqxmd.com/read/24125890/the-role-of-glucocorticoids-catecholamines-and-endocannabinoids-in-the-development-of-traumatic-memories-and-posttraumatic-stress-symptoms-in-survivors-of-critical-illness
#10
REVIEW
Daniela Hauer, Ines Kaufmann, Claudia Strewe, Isabel Briegel, Patrizia Campolongo, Gustav Schelling
Critically ill patients are at an increased risk for traumatic memories and post-traumatic stress disorder (PTSD). Memories of one or more traumatic events play an important part in the symptom pattern of PTSD. Studies in long-term survivors of intensive care unit (ICU) treatment demonstrated a clear and vivid recall of traumatic experiences and the incidence and intensity of PTSD symptoms increased with the number of traumatic memories present. Preclinical evidence has clearly shown that the consolidation and retrieval of traumatic memories is regulated by an interaction between the noradrenergic, the glucocorticoid and the endocannabinoid system...
July 2014: Neurobiology of Learning and Memory
https://www.readbyqxmd.com/read/23364437/genetic-predisposition-to-acute-respiratory-distress-syndrome-in-patients-with-severe-sepsis
#11
Pablo Cardinal-Fernández, Antonio Ferruelo, Mariam El-Assar, Catalina Santiago, Félix Gómez-Gallego, Ana Martín-Pellicer, Fernando Frutos-Vivar, Oscar Peñuelas, Nicolás Nin, Andrés Esteban, José A Lorente
OBJECTIVE: The objective of this study was to analyze the association between candidate gene polymorphisms and susceptibility to acute respiratory distress syndrome (ARDS) in patients with severe sepsis. METHODS: Patients older than 18 years admitted to the intensive care unit (ICU) with the diagnosis of severe sepsis were prospectively included. A blood sample was drawn on the first day of ICU admission, and DNA was extracted. We genotyped the insertion/deletion polymorphism of the angiotensin-converting enzyme (ACE) gene (polymerase chain reaction) and the following single-nucleotide polymorphisms (TaqMan SNP genotyping assay): tumor necrosis factor α -376 G/A, -308 G/A, and -238 G/A; interleukin 8 -251 T/A; pre-B cell colony-enhancing factor -1001 G/T; and vascular endothelial growth factor +405 C/G and +936 C/T...
March 2013: Shock
https://www.readbyqxmd.com/read/23036097/the-synergy-of-260t-t-cd14-and-308gg-tnf-%C3%AE-genotypes-in-survival-of-critically-ill-patients
#12
P R V Fallavena, T de Jesus Borges, D D Paskulin, H S Thurow, F J de Oliveira Paludo, C Dos Santos Froes, P Graebin, F S Dias, O de Toledo Nóbrega, C S Alho
Literature suggests that the analysis of several polymorphic genetic markers is more informative than the analysis of a single polymorphism. In this study, we tested whether the shared inheritance of TLR2 and TLR4 and TNF-α allelic variants may act in synergy with -260C>T CD14 SNP on the outcome from critical conditions. We monitored 524 critically ill patients from South Brazilian, daily from the ICU admission to their discharge from hospital, or death. Our results revealed that TLR2, TLR4 or TNF-α SNPs alone did not show a significant role in the outcome from critical illness...
January 2013: Scandinavian Journal of Immunology
https://www.readbyqxmd.com/read/21721932/the-presence-of-functionally-relevant-toll-like-receptor-polymorphisms-does-not-significantly-correlate-with-development-or-outcome-of-sepsis
#13
MULTICENTER STUDY
Parviz Ahmad-Nejad, Christof Denz, Wilma Zimmer, Jennifer Wacker, Peter Bugert, Christel Weiss, Michael Quintel, Michael Neumaier
AIMS: Members of the toll-like receptor (TLR) family have been shown to play important roles in inflammatory responses. Single-nucleotide polymorphisms (SNPs) altering receptor activity may either have detectable effects or might be without results due to compensatory mechanisms. We determined the genotype frequencies of functionally relevant SNPs in TLR2, 4 and 5 in critically ill patients (n=150) from a multidisciplinary surgical intensive care unit (ICU). The inflammatory response (procalcitonin, C-reactive protein, white blood count) and clinical classification (Acute Physiology and Chronic Health Evaluation Score II, Simplified Acute Physiology Score II, Sepsis-related Organ Failure Assessment) were monitored daily...
September 2011: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/21670923/tnf-308g-a-promoter-polymorphism-rs1800629-and-outcome-from-critical-illness
#14
Diego D'Ávila Paskulin, Paulo Rv Fallavena, Francis Jo Paludo, Thiago J Borges, Juliane B Picanço, Fernando S Dias, Clarice Sampaio Alho
BACKGROUND: The susceptibility to adverse outcome from critical illness (occurrence of sepsis, septic shock, organ dysfunction/failure, and mortality) varies dramatically due to different degrees of inflammatory response. An over expression of tumor necrosis factor alpha (TNF-α) can lead to the progression of the inflammatory condition. OBJECTIVE: We assessed the relationship of the genotype distribution of -308G >A TNF-α polymorphism with regard to the development of sepsis, septic shock, higher organ dysfunction or mortality in critically ill patients...
May 2011: Brazilian Journal of Infectious Diseases
https://www.readbyqxmd.com/read/21627785/novel-variants-in-the-prdx6-gene-and-the-risk-of-acute-lung-injury-following-major-trauma
#15
Melanie Rushefski, Richard Aplenc, Nuala Meyer, Mingyao Li, Rui Feng, Paul N Lanken, Robert Gallop, Scarlett Bellamy, A Russell Localio, Sheldon I Feinstein, Aron B Fisher, Steven M Albelda, Jason D Christie
BACKGROUND: Peroxiredoxin 6 (PRDX6) is involved in redox regulation of the cell and is thought to be protective against oxidant injury. Little is known about genetic variation within the PRDX6 gene and its association with acute lung injury (ALI). In this study we sequenced the PRDX6 gene to uncover common variants, and tested association with ALI following major trauma. METHODS: To examine the extent of variation in the PRDX6 gene, we performed direct sequencing of the 5' UTR, exons, introns and the 3' UTR in 25 African American cases and controls and 23 European American cases and controls (selected from a cohort study of major trauma), which uncovered 80 SNPs...
2011: BMC Medical Genetics
https://www.readbyqxmd.com/read/20549528/first-outbreak-of-pvl-positive-nonmultiresistant-mrsa-in-a-neonatal-icu-in-australia-comparison-of-maldi-tof-and-snp-plus-binary-gene-typing
#16
S Schlebusch, G R Price, S Hinds, C Nourse, J M Schooneveldt, M H Tilse, H G Liley, T Wallis, F Bowling, D Venter, G R Nimmo
The purpose of this brief report is to describe the first outbreak of a community-associated nonmultiresistant and PVL-positive MRSA strain (CC30) in a neonatal intensive care unit in Australia. The utility of matrix-assisted laser desorption/ionisation time-of-flight mass spectrometry (MALDI-TOF-MS) for microbial typing is compared with single nucleotide polymorphism (SNP) plus binary gene analysis. The composite correlation index analysis of the MALDI-TOF-MS data demonstrated the similar inter-strain relatedness found with the SNP-plus-binary gene typing used to confirm the outbreak...
October 2010: European Journal of Clinical Microbiology & Infectious Diseases
https://www.readbyqxmd.com/read/19860589/the-influences-of-cd14-260c-t-polymorphism-on-survival-in-icu-critically-ill-patients
#17
Paulo R V Fallavena, Thiago J Borges, Diego D Paskulin, Francis J O Paludo, Thayse B Goetze, Jarbas R de Oliveira, Otávio T Nóbrega, Fernando S Dias, Clarice S Alho
In order to analyze the effect of the two different versions of the cluster of differentiation 14 (CD14) receptor recognizing gene on survival, we determined the -260C>T single nucleotide polymorphism (SNP) frequencies in 514 critically ill patients. We compared the -260TT homozygotes with -260C allele carriers (-260CC and -260CT genotypes) and we demonstrated--260TT patients had the highest survival rate (82% vs 64%; p < 0.001; OR = 2.52, 95% CI = 1.43-4.46). We performed binary logistic regression, incorporating both -260C>T genotype groups and the main clinical predictors to exclude other risk factors that could influence the outcome from critical illness: higher age, APACHE II score, and length of stay at hospital, and the occurrence of sepsis and septic shock were risk factors to Intensive Care Unit (ICU) patient's mortality, but the -260TT genotype was protective factor toward survival (p = 0...
2009: Immunological Investigations
https://www.readbyqxmd.com/read/19527699/clinical-application-of-cytokine-related-gene-polymorphism-analysis-using-a-newly-developed-dna-chip-in-critically-ill-patients
#18
Shunsuke Otani, Shigeto Oda, Tomohito Sadahiro, Masataka Nakamura, Eizo Watanabe, Taka-aki Nakada, Ryuzo Abe, Takeshi Tokuhisa, Hiroyuki Hirasawa
OBJECTIVES: To investigate the usefulness of analysis of single nucleotide polymorphism (SNP) using a newly developed DNA chip assay involving single base extension(SBE) and subsequent hybridization in cytokine-related genes in critical care patients. DESIGN AND METHODS: Genotyping was performed in 76 ICU patients admitted to the ICU. First, the DNA samples from 58 patients were subjected to PCR and SBE conditioning for DNA. Second, another 18 patients were subjected to genotyping for SNPs in IL-6 -596G/A, -572C/G, -174G/C, TNF-alpha -308G/A, -238G/A, IL-1beta -511C/T and -31T/C by both TaqMan and DNA chip method, and by DNA direct sequencing prospectively...
September 2009: Clinical Biochemistry
https://www.readbyqxmd.com/read/19247898/role-of-intraventricular-sodium-nitroprusside-in-vasospasm-secondary-to-aneurysmal-subarachnoid-haemorrhage-a-5-year-prospective-study-with-review-of-the-literature
#19
REVIEW
A Agrawal, R Patir, Y Kato, S Chopra, H Sano, T Kanno
OBJECTIVE: Cerebral vasospasm remains an important cause of permanent neurological injury and death following aneurysmal subarachnoid haemorrhage, despite the best current medical therapy. Sodium nitroprusside was recently suggested as a treatment option for cerebral ischaemia in patients with severe medically refractive vasospasm after subarachnoid haemorrhage. METHODS: Twenty patients of aneurysmal SAH with severe vasospasm, corroborated on transcranial Doppler (TCD), were included in this prospective study...
February 2009: Minimally Invasive Neurosurgery: MIN
https://www.readbyqxmd.com/read/18249133/pathogen-specific-cytokine-release-reveals-an-effect-of-tlr2-arg753gln-during-candida-sepsis-in-humans
#20
Tobias Woehrle, Weidong Du, Achim Goetz, Hsin-Yun Hsu, Thomas O Joos, Manfred Weiss, Ute Bauer, Uwe B Brueckner, E Marion Schneider
Toll-like receptors (TLRs) are crucial pattern-recognition receptors (PRRs) for activation of innate and adapted immunity. TLR2 heterodimerizes with TLR1 or TLR6 to recognize multiple pathogen-associated molecular patterns (PAMPs) of fungi, Gram-positive pathogens, and mycobacteria. Receptor activation culminates in monocyte, T-helper (Th)1, and Th2 cytokine release. Single nucleotide polymorphisms (SNPs) Arg753Gln and Arg677Trp affect TLR2 responsiveness and may contribute to the course of sepsis, which is associated with substantial morbidity and mortality during intensive care treatment...
March 2008: Cytokine
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