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https://www.readbyqxmd.com/read/29141318/-ras-associated-autoimmune-leukoproliferative-disorder-a-report-of-2-cases-and-literature-review
#1
T Y He, C R Li, Y Xia, F F Liang, Y Luo, J Yang
Objective: To investigate the clinical features and genetic characteristics of cases with Ras-associated autoimmune leukoproliferative disorder(RALD). Method: Characteristics of clinical data and gene mutation of the first two cases in China with RALD were retrospectively analyzed. The related literature was searched by using search terms "NRAS" , "KRAS" or "RALD" . Result: Case1, a seven-year-seven-month old girl, was admitted due to "thrombocytopenia and splenomegaly for three years" . Palpation showed enlargement of submandibular lymph nodes and hepatosplenomegaly...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29140992/transcriptome-profile-of-lung-dendritic-cells-after-in-vitro-porcine-reproductive-and-respiratory-syndrome-virus-prrsv-infection
#2
Maren Julia Pröll, Christiane Neuhoff, Karl Schellander, Muhammad Jasim Uddin, Mehmet Ulas Cinar, Sudeep Sahadevan, Xueqi Qu, Md Aminul Islam, Mikhael Poirier, Marcel A Müller, Christian Drosten, Dawit Tesfaye, Ernst Tholen, Christine Große-Brinkhaus
The porcine reproductive and respiratory syndrome (PRRS) is an infectious disease that leads to high financial and production losses in the global swine industry. The pathogenesis of this disease is dependent on a multitude of factors, and its control remains problematic. The immune system generally defends against infectious diseases, especially dendritic cells (DCs), which play a crucial role in the activation of the immune response after viral infections. However, the understanding of the immune response and the genetic impact on the immune response to PRRS virus (PRRSV) remains incomplete...
2017: PloS One
https://www.readbyqxmd.com/read/29139039/genetic-screening-and-molecular-characterization-of-met-alterations-in-non-small-cell-lung-cancer
#3
M Saigi, A McLeer-Florin, E Pros, E Nadal, E Brambilla, M Sanchez-Cespedes
PURPOSE: Aberrant activation of MET as a result of exon 14-skipping (METex14) mutations or gene amplification is an oncogenic mechanism in non-small cell lung carcinoma (NSCLC) and a potential therapeutic target. The purpose of this study was to characterize MET alterations in a cohort of NSCLC patients treated with surgery. METHODS AND PATIENTS: 157 NSCLCs of various histopathologies, including pulmonary sarcomatoid carcinomas (PSC), were tested for MET alterations...
November 14, 2017: Clinical & Translational Oncology
https://www.readbyqxmd.com/read/29138047/antibacterial-effect-and-dna-delivery-using-a-combination-of-an-arsonium-containing-lipophosphoramide-with-an-n-heterocyclic-carbene-silver-complex-potential-benefits-for-cystic-fibrosis-lung-gene-therapy
#4
Angélique Mottais, Mathieu Berchel, Yann Sibiril, Véronique Laurent, Deborah Gill, Stephen Hyde, Paul-Alain Jaffrès, Tristan Montier, Tony Le Gall
Cystic Fibrosis (CF), the most common chronic genetic disorder among the Caucasian population, is a life-threatening disease mainly due to respiratory failures resulting from chronic infections and inflammation. Although research in the pharmacological field has recently made significant progress, gene therapy still remains a promising strategy to cure CF, especially because it should be applicable to any patient whatever the mutation profile. Until now, little attention has been paid to bacterial lung infections with regard to gene delivery to the airways; yet, this could greatly impact on the success of gene therapy...
November 11, 2017: International Journal of Pharmaceutics
https://www.readbyqxmd.com/read/29137260/pathologic-subtype-defined-prognosis-is-dependent-on-both-tumor-stage-and-status-of-oncogenic-driver-mutations-in-lung-adenocarcinoma
#5
Yu Dong, Ying Li, Bo Jin, Jie Zhang, Jinchen Shao, Hong Peng, Shichun Tu, Baohui Han
Previous studies have shown that the prognosis of lung adenocarcinoma is associated with pathological characterization. In this study, we investigated whether pathology-based prognosis was further influenced by both tumor stage and oncogenic driver mutations. To this end, we recruited a cohort of 465 lung adenocarcinoma patients in China. These patients were classified into 6 pathology-defined subtypes i.e., lepidic-predominant adenocarcinoma (LPA), acinar-predominant adenocarcinoma (APA), papillary-predominant adenocarcinoma (PPA), micropapillary-predominant adenocarcinoma (MPA), solid-predominant adenocarcinoma (SPA), and invasive mucinous adenocarcinoma (IMA)...
October 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/29137250/molecular-chaperones-in-the-acquisition-of-cancer-cell-chemoresistance-with-mutated-tp53-and-mdm2-up-regulation
#6
Zuzanna Tracz-Gaszewska, Marta Klimczak, Przemyslaw Biecek, Marcin Herok, Marcin Kosinski, Maciej B Olszewski, Patrycja Czerwińska, Milena Wiech, Maciej Wiznerowicz, Alicja Zylicz, Maciej Zylicz, Bartosz Wawrzynow
Utilizing the TCGA PANCAN12 dataset we discovered that cancer patients with mutations in TP53 tumor suppressor and overexpression of MDM2 oncogene exhibited decreased survival post treatment. Interestingly, in the case of breast cancer patients, this phenomenon correlated with high expression level of several molecular chaperones belonging to the HSPA, DNAJB and HSPC families. To verify the hypothesis that such a genetic background may promote chaperone-mediated chemoresistance, we employed breast and lung cancer cell lines that constitutively overexpressed heat shock proteins and have shown that HSPA1A/HSP70 and DNAJB1/HSP40 facilitated the binding of mutated p53 to the TAp73α protein...
October 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/29137224/role-of-the-inflammasome-in-chronic-obstructive-pulmonary-disease-copd
#7
Chiara Colarusso, Michela Terlizzi, Antonio Molino, Aldo Pinto, Rosalinda Sorrentino
Inflammation is central to the development of chronic obstructive pulmonary disease (COPD), a pulmonary disorder characterized by chronic bronchitis, chronic airway obstruction, emphysema, associated to progressive and irreversible decline of lung function. Emerging genetic and pharmacological evidence suggests that IL-1-like cytokines are highly detected in the sputum and broncho-alveolar lavage (BAL) of COPD patients, implying the involvement of the multiprotein complex inflammasome. So far, scientific evidence has focused on nucleotide-binding oligomerization domain-like receptors protein 3 (NLRP3) inflammasome, a specialized inflammatory signaling platform that governs the maturation and secretion of IL-1-like cytokines through the regulation of caspase-1-dependent proteolytic processing...
October 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/29136529/yap-dependent-axl-overexpression-mediates-resistance-to-egfr-inhibitors-in-nsclc
#8
Elena Ghiso, Cristina Migliore, Vito Ciciriello, Elena Morando, Annalisa Petrelli, Simona Corso, Emmanuele De Luca, Gaia Gatti, Marco Volante, Silvia Giordano
The Yes-associated protein (YAP) is a transcriptional co-activator upregulating genes that promote cell growth and inhibit apoptosis. The main dysregulation of the Hippo pathway in tumors is due to YAP overexpression, promoting epithelial to mesenchymal transition, cell transformation, and increased metastatic ability. Moreover, it has recently been shown that YAP plays a role in sustaining resistance to targeted therapies as well. In our work, we evaluated the role of YAP in acquired resistance to epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors in lung cancer...
November 11, 2017: Neoplasia: An International Journal for Oncology Research
https://www.readbyqxmd.com/read/29135920/environmental-burkholderia-cenocepacia-strain-enhances-fitness-by-serial-passages-during-long-term-chronic-airways-infection-in-mice
#9
Alessandra Bragonzi, Moira Paroni, Luisa Pirone, Ivan Coladarci, Fiorentina Ascenzioni, Annamaria Bevivino
Burkholderia cenocepacia is an important opportunistic pathogen in cystic fibrosis (CF) patients, and has also been isolated from natural environments. In previous work, we explored the virulence and pathogenic potential of environmental B. cenocepacia strains and demonstrated that they do not differ from clinical strains in some pathogenic traits. Here, we investigated the ability of the environmental B. cenocepacia Mex1 strain, isolated from the maize rhizosphere, to persist and increase its virulence after serial passages in a mouse model of chronic infection...
November 14, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29133401/multiple-legionella-pneumophila-effector-virulence-phenotypes-revealed-through-high-throughput-analysis-of-targeted-mutant-libraries
#10
Stephanie R Shames, Luying Liu, James C Havey, Whitman B Schofield, Andrew L Goodman, Craig R Roy
Legionella pneumophila is the causative agent of a severe pneumonia called Legionnaires' disease. A single strain of L. pneumophila encodes a repertoire of over 300 different effector proteins that are delivered into host cells by the Dot/Icm type IV secretion system during infection. The large number of L. pneumophila effectors has been a limiting factor in assessing the importance of individual effectors for virulence. Here, a transposon insertion sequencing technology called INSeq was used to analyze replication of a pool of effector mutants in parallel both in a mouse model of infection and in cultured host cells...
November 13, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29133028/evolution-and-postglacial-colonization-of-seewis-hantavirus-with-sorex-araneus-in-finland
#11
Jiaxin Ling, Teemu Smura, Daniel Tamarit, Otso Huitu, Liina Voutilainen, Heikki Henttonen, Antti Vaheri, Olli Vapalahti, Tarja Sironen
Hantaviruses have co-existed with their hosts for millions of years. Seewis virus (SWSV), a soricomorph-borne hantavirus, is widespread in Eurasia, ranging from Central Siberia to Western Europe. To gain insight into the phylogeography and evolutionary history of SWSV in Finland, lung tissue samples of 225 common shrews (Sorex araneus) trapped from different parts of Finland were screened for the presence of SWSV RNA. Forty-two of the samples were positive. Partial small (S), medium (M) and large (L) segments of the virus were sequenced, and analyzed together with all SWSV sequences available in Genbank...
November 10, 2017: Infection, Genetics and Evolution
https://www.readbyqxmd.com/read/29132961/title-experimental-asthma-persists-in-il33-receptor-knockout-mice-due-to-the-emergence-of-a-tslp-driven-il9-and-il13-ilc2-subpopulations
#12
Mukesh Verma, Sucai Liu, Lidia Michalec, Anand Sripada, Magdalena M Gorska, Rafeul Alam
BACKGROUND: IL33 plays an important role in development of experimental asthma. OBJECTIVE: To study the role of the IL33 receptor (ST2) in persistence of asthma in a mouse model. METHODS: We studied allergen-induced experimental asthma in ST2 knockout (KO) and wild-type control mice. We measured airway hyperresponsiveness (AHR) by flexivent, inflammatory indices by ELISA, histology and real-time PCR, and ILC2s in lung single cell preparations by flow cytometry...
November 10, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29130366/autophagy-and-inflammation-in-chronic-respiratory-disease
#13
Alexandra C Racanelli, Sarah Ann Kikkers, Augustine M K Choi, Suzanne M Cloonan
Persistent inflammation within the respiratory tract underlies the pathogenesis of numerous chronic pulmonary diseases including chronic obstructive pulmonary disease, asthma and pulmonary fibrosis. Chronic inflammation in the lung may arise from a combination of genetic susceptibility and environmental influences, including exposure to microbes, particles from the atmosphere, irritants, pollutants, allergens and toxic molecules. To this end, an immediate, strong and highly regulated inflammatory defense mechanism is needed for the successful maintenance of homeostasis within the respiratory system...
November 13, 2017: Autophagy
https://www.readbyqxmd.com/read/29130351/the-gene-therapy-resource-program-a-decade-of-dedication-to-translational-research-by-the-national-heart-lung-and-blood-institute
#14
Terence R Flotte, Eric Daniels, Janet Benson, Jenee M Bevett-Rose, Kenneth Cornetta, Margaret Diggins, Julie Johnston, Susan Sepelak, Johannes Van Der Loo, James M Wilson, Cheryl L McDonald
Over a ten-year period, the Gene Therapy Resource Program (GTRP) of the National Heart Lung and Blood Institute (NHLBI) has provided a set of core services to investigators to facilitate the clinical translation of gene therapy. These services have included a preclinical (research-grade) vector production core; current Good Manufacturing Practice (cGMP) clinical-grade vector cores for recombinant adeno-associated virus (rAAV) and lentivirus vectors; a pharmacology and toxicology core; and a coordinating center to manage program logistics and to provide regulatory and financial support to early phase clinical trials...
November 12, 2017: Human Gene Therapy. Clinical Development
https://www.readbyqxmd.com/read/29127520/association-between-mir-146a-rs2910164-polymorphism-and-specific-cancer-susceptibility-an-updated-meta-analysis
#15
REVIEW
Xia Hao, Lingzi Xia, Ruoyi Qu, Xianglin Yang, Min Jiang, Baosen Zhou
The rapidly increasing of cancer risk nationwide and worldwide has threatened human health and caused the changes of disease and death spectrum. MicroRNA (MiRNA) as cancer biomarker on susceptibility has enjoyed a high level of concern. This article will discuss the association between miR-146 rs2910164 polymorphism and cancer susceptibility in 38 independent case-control studies from 34905 individuals. The 38 case-control studies which were searched from PubMed were used for conducting a meta-analysis. There were 14670 cases and 20235 controls...
November 10, 2017: Familial Cancer
https://www.readbyqxmd.com/read/29127514/does-tranexamic-acid-increase-the-risk-of-thromboembolism-after-bilateral-simultaneous-total-knee-arthroplasties-in-asian-population
#16
Young-Hoo Kim, Jang-Won Park, Jun-Shik Kim, Dong-Hyuk Seo
PURPOSE: To ascertain whether tranexamic acid reduces the blood loss and transfusion rate and volumes; increase the prevalence of deep vein thrombosis (DVT); and investigate factors associated with DVT in patients undergoing primary bilateral total knee arthroplasties (TKAs) without use of chemical thromboprophylaxis. METHODS: There were 874 patients (1748 knees) in the control group who did not receive tranexamic acid and 871 patients (1742 knees) in the study group who received tranexamic acid...
November 10, 2017: Archives of Orthopaedic and Trauma Surgery
https://www.readbyqxmd.com/read/29127119/rasa1-and-nf1-are-preferentially-co-mutated-and-define-a-distinct-genetic-subset-of-smokingassociated-non-small-cell-lung-carcinomas-sensitive-to-mek-inhibition
#17
Takuo Hayashi, Patrice Desmeules, Roger S Smith, Alexander Drilon, Romel Somwar, Marc Ladanyi
PURPOSE: Ras-GTPase activating proteins (RasGAPs), notably NF1 and RASA1, mediate negative control of the RAS/MAPK pathway. We evaluated clinical and molecular characteristics of NSCLC with RASA1 mutations in comparison with NF1-mutated cases. EXPERIMENTAL DESIGN: Large genomic datasets of NSCLC [MSK-IMPACT™ dataset at MSKCC (n=2004), TCGA combined lung cancer dataset (n=1144)] were analyzed to define concurrent mutations and clinical features of RASA1-mutated NSCLCs...
November 10, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29127022/genetic-and-immune-profiles-of-solid-predominant-lung-adenocarcinoma-reveal-potential-immunotherapeutic-strategies
#18
Zhong-Yi Dong, Chao Zhang, Yu-Fa Li, Jian Su, Zhi Xie, Si-Yang Liu, Li-Xu Yan, Zhi-Hong Chen, Xue-Ning Yang, Jun-Tao Lin, Hai-Yan Tu, Jin-Ji Yang, Qing Zhou, Yue-Li Sun, Wen-Zhao Zhong, Yi-Long Wu
BACKGROUND: Subtype classification of lung adenocarcinoma (LUAD) divides different survivals and therapeutic vulnerabilities, while the underlying molecular mechanism is little to be known. This study sought to determine the genetic and immune profiles of histologic subtypes and identify the evidence for adjuvant immunotherapy. PATIENTS AND METHODS: We performed an integrated analysis on multidimensional data from a discovery set including cohorts of The Cancer Genome Atlas (TCGA) and the Broad set from the LUAD public database, and a validation set from the Guangdong Lung Cancer Institute (GLCI)...
November 7, 2017: Journal of Thoracic Oncology
https://www.readbyqxmd.com/read/29126329/effect-of-benzo-a-pyrene-on-spindle-mis-orientation-and-fidelity-of-chromosome-segregation-in-lung-epithelial-beas-2b-cells
#19
Jose Thaiparambil, Oula Mansour, Randa El-Zein
Benzo[a]pyrene (B[a]P) is an environmental carcinogen found in tobacco smoke. It leads to high levels of DNA adducts in the lungs of cigarette smokers contributing to genomic instability. Alterations in the mitotic spindle apparatus play a major role in the generation of genomic instability through promoting chromosome mis-segregation and aneuploidy. To date, the effect of B[a]P exposure on altering the mitotic apparatus in normal lung epithelial cells remains unknown. In our study, BEAS-2B human bronchial epithelial cells were exposed to B[a]P and spindle dynamics were evaluated...
November 6, 2017: Toxicological Sciences: An Official Journal of the Society of Toxicology
https://www.readbyqxmd.com/read/29123416/frequency-and-clinical-relevance-of-egfr-mutations-and-eml4-alk-translocations-in-octogenarians-with-non-small-cell-lung-cancer
#20
Amanda Tufman, Kathrin Kahnert, Thomas Duell, Diego Kauffmann-Guerrero, Katrin Milger, Christian Schneider, Julia Stump, Zulfiya Syunyaeva, Rudolf Maria Huber, Simone Reu
Background: Tyrosine kinase inhibitors (TKIs) have improved response rates in some patients with non-small cell lung cancer (NSCLC), and testing for EGFR mutation and ALK translocation is recommended for all patients with advanced lung adenocarcinoma. The frequency of driver mutations in elderly and very elderly patients has not been described. Patients and methods: We reviewed EGFR and ALK in patients over the age of 70 years diagnosed and treated at our center in 2015 (subgroups: 70-74, 75-79 and >80 years)...
2017: OncoTargets and Therapy
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