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https://www.readbyqxmd.com/read/28929906/the-important-role-of-primary-care-providers-in-the-detection-of-alpha-1-antitrypsin-deficiency
#1
Jorge E Lascano, Michael A Campos
OBJECTIVE: Alpha-1 antitrypsin deficiency (AATD) is an underrecognized genetic disorder that can cause chronic obstructive pulmonary disease (COPD) and liver cirrhosis, two clinical conditions commonly seen by primary care physicians. AATD is estimated to affect 1/4000-1/5000 people in the United States and 1-2% of all COPD cases. METHODS: PubMed was searched for relevant articles using AAT/AATD-related terms. RESULTS: Unfortunately, <10% of symptomatic individuals have been properly diagnosed primarily due to the underdiagnosis of COPD and the lack of awareness of AATD as a possible underlying cause...
September 20, 2017: Postgraduate Medicine
https://www.readbyqxmd.com/read/28929109/genetic-variants-in-the-hedgehog-interacting-protein-gene-are-associated-with-the-fev1-fvc-ratio-in-southern-han-chinese-subjects-with-chronic-obstructive-pulmonary-disease
#2
Zili Zhang, Jian Wang, Zeguang Zheng, Xindong Chen, Xiansheng Zeng, Yi Zhang, Defu Li, Jiaze Shu, Kai Yang, Ning Lai, Lian Dong, Wenju Lu
BACKGROUND: Convincing evidences have demonstrated the associations between HHIP and FAM13a polymorphisms and COPD in non-Asian populations. Here genetic variants in HHIP and FAM13a were investigated in Southern Han Chinese COPD. METHODS: A case-control study was conducted, including 989 cases and 999 controls. The associations between SNPs genotypes and COPD were performed by a logistic regression model; for SNPs and COPD-related phenotypes such as lung function, COPD severity, pack-year of smoking, and smoking status, a linear regression model was employed...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28927525/alpha-1-antitrypsin-deficiency-genetic-variations-clinical-manifestations-and-therapeutic-interventions
#3
REVIEW
Younis Mohammad Hazari, Arif Bashir, Mudasir Habib, Samirul Bashir, Huma Habib, M Abul Qasim, Naveed Nazir Shah, Ehtishamul Haq, Jeffrey Teckman, Khalid Majid Fazili
Alpha-1-antitrypsin (AAT) is an acute phase secretory glycoprotein that inhibits neutrophil proteases like elastase and is considered as the archetype of a family of structurally related serine-protease inhibitors termed serpins. Serum AAT predominantly originates from liver and increases three to five fold during host response to tissue injury and inflammation. The AAT deficiency is unique among the protein-misfolding diseases in that it causes target organ injury by both loss-of-function and gain-of-toxic function mechanisms...
July 2017: Mutation Research
https://www.readbyqxmd.com/read/28880688/neonatal-rat-age-sex-and-strain-modify-acute-antioxidant-response-to-ozone
#4
Janice A Dye, Eugene A Gibbs-Flournoy, Judy H Richards, Joel Norwood, Katherine Kraft, Gary E Hatch
Chronic obstructive pulmonary disease (COPD) is the third leading cause of death in the US and its impact continues to increase in women. Oxidant insults during critical periods of early life appear to increase risk of COPD through-out the life course. To better understand susceptibility to early life exposure to oxidant air pollutants we used Fisher (F344), Sprague-Dawley (SD) and Wistar (WIS) male and female neonatal rat pups to assess: (A) if strain (i.e. genetics), sex, or stage of early life development affected baseline lung antioxidant or redox enzyme levels and (B) if these same factors modulated antioxidant responsiveness to acute ozone exposure (1 ppm × 2 h) on post-natal day (PND) 14, 21, or 28...
September 7, 2017: Inhalation Toxicology
https://www.readbyqxmd.com/read/28865600/the-association-of-genetic-polymorphisms-of-hypoxia-inducible-factor-1-alpha-and-vascular-endothelial-growth-factor-with-increased-risk-of%C3%A2-chronic-obstructive-pulmonary-disease-a%C3%A2-case-control-study
#5
Zhen-Gang Yu, Bing-Zhe Wang, Zhao-Zhong Cheng
Accumulated data over the years have suggested that hypoxia inducible factor-1 alpha (HIF-1α) and its downstream vascular endothelial growth factor (VEGF) gene may be linked with chronic obstructive pulmonary disease (COPD). This study aims to investigate the association of HIF-1α and VEGF genetic polymorphisms and their correlated risks with COPD. COPD patients (case group) and healthy individuals (control group) were recruited. DNA was extracted to detect HIF-1α and VEGF genetic polymorphisms. Basal lung volume and forced expiratory capacity in 1st second (FEV1)/forced vital capacity (FVC) and FEV1/predicted value (pred)% were calculated...
September 2017: Kaohsiung Journal of Medical Sciences
https://www.readbyqxmd.com/read/28862879/chronic-obstructive-pulmonary-disease-in-hispanics-a-9-year-update
#6
Alejandro Díaz, Bartolomé Celli, Juan C Celedón
Hispanics are the largest minority in the U.S., now encompassing 56.6 million people. A Hispanic or Latino is an individual whose ancestry can be traced to Spain or territories previously under Spanish control. The Hispanic population in the U.S. and Latin America is very diverse for country of origin, nativity, and racial ancestry. Over the last nine years, our knowledge of COPD in Hispanics has improved, due to a better understanding of differences in COPD burden and risk factors across Hispanic subgroups, development of subgroup-specific spirometry reference equations, genetic studies, and better knowledge of barriers and needs in the diagnosis and management of COPD in the Hispanic population...
September 1, 2017: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/28811618/assessment-of-the-role-of-ageing-and-non-ageing-factors-in-death-from-non-communicable-diseases-based-on-a-cumulative-frequency-model
#7
Liu Hui
To quantify the effects of ageing and non-ageing factors, a characterization of the effects of ageing, genetic, and exogenous variables on 12 major non-communicable diseases was evaluated using a model assessing cumulative frequency of death and survival by age group from dead and surviving populations based on mortality statistics. Indices (0-1) of the roles of ageing (ARD), genetics (GRD) and exogenous (ERD) variables in deaths due to disease were established, and the sum of ARD, GRD and ERD was 1 (value of each indices was <1)...
August 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28805194/-lung-cancer-and-copd-growing-clinical-problem
#8
EDITORIAL
Michal Tyl, Joanna Domagała-Kulawik
A spread of the addiction of tobacco smoking is valued on near 1 billion of people in the world, that involves growing number of morbidity and mortality by the reason of smoke related diseases. Lung cancer and chronic obstructive pulmonary disease (COPD) are the most serious and incurable diseases which are leading to a permanent disability as well as to premature death. There are factors that naturally increase the vulnerability of an individual on the coincidence of above disorders, such as pathophysiological conditions, systemic inflammation, bronchitis, emphysema, respiratory obstructive disease and precise genetic predispositions for COPD and lung cancer...
July 21, 2017: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/28804700/abridged-version-of-the-awmf-guideline-for-the-medical-clinical-diagnostics-of-indoor-mould-exposure-s2k-guideline-of-the-german-society-of-hygiene-environmental-medicine-and-preventive-medicine-ghup-in-collaboration-with-the-german-association-of-allergists
#9
Gerhard A Wiesmüller, Birger Heinzow, Ute Aurbach, Karl-Christian Bergmann, Albrecht Bufe, Walter Buzina, Oliver A Cornely, Steffen Engelhart, Guido Fischer, Thomas Gabrio, Werner Heinz, Caroline E W Herr, Jörg Kleine-Tebbe, Ludger Klimek, Martin Köberle, Herbert Lichtnecker, Thomas Lob-Corzilius, Rolf Merget, Norbert Mülleneisen, Dennis Nowak, Uta Rabe, Monika Raulf, Hans Peter Seidl, Jens-Oliver Steiß, Regine Szewszyk, Peter Thomas, Kerttu Valtanen, Julia Hurraß
This article is an abridged version of the AWMF mould guideline "Medical clinical diagnostics of indoor mould exposure" presented in April 2016 by the German Society of Hygiene, Environmental Medicine and Preventive Medicine (Gesellschaft für Hygiene, Umweltmedizin und Präventivmedizin, GHUP), in collaboration with the above-mentioned scientific medical societies, German and Austrian societies, medical associations and experts. Indoor mould growth is a potential health risk, even if a quantitative and/or causal relationship between the occurrence of individual mould species and health problems has yet to be established...
2017: Allergo Journal International
https://www.readbyqxmd.com/read/28753063/association-between-adrb2-genetic-polymorphisms-and-the-risk-of-chronic-obstructive-pulmonary-disease-a-case-control-study-in-a-chinese-population
#10
Hui Zhao, Xuan Wu, Chun-Ling Dong, Bi-Ying Wang, Jiao Zhao, Xian-E Cao
OBJECTIVE: This study was designed to investigate the association between single nucleotide polymorphisms (SNPs) of the β2-adrenergic receptor (ADRB2) gene and the risk of chronic obstructive pulmonary disease (COPD) in a Chinese population. METHODS: From January 2010 to October 2014, 261 COPD patients were selected as the case group and 239 healthy subjects were selected as the control group. Pulmonary function tests were performed to detect forced vital capacity (FVC), 1-s forced expiratory volume (FEV1), and FEV1/FVC (%)...
August 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28747957/acn9-regulates-the-inflammatory-responses-in-human-bronchial-epithelial-cells
#11
Jae Hoon Jeong, Jeeyoung Kim, Jeongwoon Kim, Hye-Ryeon Heo, Jin Seon Jeong, Young-Joon Ryu, Yoonki Hong, Seon-Sook Han, Seok-Ho Hong, Seung-Joon Lee, Woo Jin Kim
BACKGROUND: Airway epithelial cells are the first line of defense, against pathogens and environmental pollutants, in the lungs. Cellular stress by cadmium (Cd), resulting in airway inflammation, is assumed to be directly involved in tissue injury, linked to the development of lung cancer, and chronic obstructive pulmonary disease (COPD). We had earlier shown that ACN9 (chromosome 7q21), is a potential candidate gene for COPD, and identified significant interaction with smoking, based on genetic studies...
July 2017: Tuberculosis and Respiratory Diseases
https://www.readbyqxmd.com/read/28738859/genes-and-pathways-underlying-susceptibility-to-impaired-lung-function-in-the-context-of-environmental-tobacco-smoke-exposure
#12
K de Jong, J M Vonk, M Imboden, L Lahousse, A Hofman, G G Brusselle, N M Probst-Hensch, D S Postma, H M Boezen
BACKGROUND: Studies aiming to assess genetic susceptibility for impaired lung function levels upon exposure to environmental tobacco smoke (ETS) have thus far focused on candidate-genes selected based on a-priori knowledge of potentially relevant biological pathways, such as glutathione S-transferases and ADAM33. By using a hypothesis-free approach, we aimed to identify novel susceptibility loci, and additionally explored biological pathways potentially underlying this susceptibility to impaired lung function in the context of ETS exposure...
July 24, 2017: Respiratory Research
https://www.readbyqxmd.com/read/28732839/exacerbations-and-duration-of-smoking-abstinence-are-associated-with-the-annual-loss-of-fev1-in-individuals-with-pizz-alpha-1-antitrypsin-deficiency
#13
Sebastian Fähndrich, Nikolas Bernhard, Philipp M Lepper, Claus Vogelmeier, Martina Seibert, Stefan Wagenpfeil, Robert Bals
BACKGROUND: Alpha-1-antitrypsin deficiency (AATD) is a genetic disorder that is associated with a higher risk of chronic obstructive pulmonary disease (COPD) and emphysema. The annual declines in lung function (FEV1) and transfer factor of the lung for carbon monoxide (TLCO) predict all-cause mortality. MATERIAL AND METHODS: We investigated the longitudinal follow-up data over 11 years (mean follow-up period of 4.89 years) from the German AATD registry and analyzed the relationship between annual loss of FEV1 and TLCO and sex, age, body mass index (BMI), nicotine consumption, occupational dust exposure, St...
August 2017: Respiratory Medicine
https://www.readbyqxmd.com/read/28724417/examining-the-role-of-unmeasured-confounding-in-mediation-analysis-with-genetic-and-genomic-applications
#14
Sharon M Lutz, Annie Thwing, Sarah Schmiege, Miranda Kroehl, Christopher D Baker, Anne P Starling, John E Hokanson, Debashis Ghosh
BACKGROUND: In mediation analysis if unmeasured confounding is present, the estimates for the direct and mediated effects may be over or under estimated. Most methods for the sensitivity analysis of unmeasured confounding in mediation have focused on the mediator-outcome relationship. RESULTS: The Umediation R package enables the user to simulate unmeasured confounding of the exposure-mediator, exposure-outcome, and mediator-outcome relationships in order to see how the results of the mediation analysis would change in the presence of unmeasured confounding...
July 19, 2017: BMC Bioinformatics
https://www.readbyqxmd.com/read/28713086/intensifying-approach-to-the-therapy-of-patients-with-constellation-of-the-diseases-chronic-obstructive-pulmonary-disease-and-osteoarthritis
#15
Vyacheslav N Zhdan, Maksim М Potyazhenko, Galina S Khaymenova, Nadezhda N Lyulka, Tatyana V Dubrovinskaya, Igor V Ivanitsky
INTRODUCTION: Chronic obstructive pulmonary disease (COPD) is one of 21st century. About 210 million people all over the world are suffering with COPD, and annually 3 million people die of it. Under the influence of different factors, such as smoking, air prolusion, evaporation of chemicals, poisoning effect of chemical firings, inflammation processes take place in lungs, and if it is prolonged and take place simultaneously with morphological changes in the lungs, it it provide the de4velopment of the systemic inflammation process...
2017: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/28704396/phenotypic-chemical-and-functional-characterization-of-cyclic-nucleotide-phosphodiesterase-4-pde4-as-a-potential-anthelmintic-drug-target
#16
Thavy Long, Liliana Rojo-Arreola, Da Shi, Nelly El-Sakkary, Kurt Jarnagin, Fernando Rock, Maliwan Meewan, Alberto A Rascón, Lin Lin, Katherine A Cunningham, George A Lemieux, Larissa Podust, Ruben Abagyan, Kaveh Ashrafi, James H McKerrow, Conor R Caffrey
BACKGROUND: Reliance on just one drug to treat the prevalent tropical disease, schistosomiasis, spurs the search for new drugs and drug targets. Inhibitors of human cyclic nucleotide phosphodiesterases (huPDEs), including PDE4, are under development as novel drugs to treat a range of chronic indications including asthma, chronic obstructive pulmonary disease and Alzheimer's disease. One class of huPDE4 inhibitors that has yielded marketed drugs is the benzoxaboroles (Anacor Pharmaceuticals)...
July 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28678867/gut-bacterial-peptides-with-autoimmunity-potential-as-environmental-trigger-for-late-onset-complex-diseases-in-silico-study
#17
Sapna Negi, Harpreet Singh, Anirban Mukhopadhyay
Recent evidences suggest that human gut microbiota with major component as bacteria can induce immunity. It is also known that gut lining depletes with ageing and that there is increased risk of autoimmune and inflammatory disorders with ageing. It is therefore likely that both may be correlated as depletion of gut lining exposes the gut bacterial antigens to host immune mechanisms, which may induce immunity to certain bacterial proteins, but at the same time such immunity may also be auto-immunogenic to host...
2017: PloS One
https://www.readbyqxmd.com/read/28665217/chronic-obstructive-pulmonary-disease-meta-genome-wide-association-studies-new-insights-into-the-genetics-of-chronic-obstructive-pulmonary-disease
#18
Charu Rajput
No abstract text is available yet for this article.
July 2017: American Journal of Respiratory Cell and Molecular Biology
https://www.readbyqxmd.com/read/28655780/dnmt3a-and-tet2-dominate-clonal-hematopoiesis-and-demonstrate-benign-phenotypes-and-different-genetic-predispositions
#19
Manuel Buscarlet, Sylvie Provost, Yassamin Feroz Zada, Amina Barhdadi, Vincent Bourgoin, Guylaine Lépine, Luigina Mollica, Natasha Szuber, Marie-Pierre Dubé, Lambert Busque
Age-associated clonal hematopoiesis caused by acquired mutations in myeloid cancer-associated genes is highly prevalent in the normal population. Its etiology, biological impact on hematopoiesis, and oncogenic risk is poorly defined at this time. To gain insight into this phenomenon, we analyzed a cohort of 2530 related and unrelated hematologically normal individuals (ages 55 to 101 years). We used a sensitive gene-targeted deep sequencing approach to gain precision on the exact prevalence of driver mutations and the proportions of affected genes...
August 10, 2017: Blood
https://www.readbyqxmd.com/read/28651088/genetic-and-epigenetic-alterations-in-normal-and-sensitive-copd-diseased-human-bronchial-epithelial-cells-repeatedly-exposed-to-air-pollution-derived-pm2-5
#20
B Leclercq, A Platel, S Antherieu, L Y Alleman, E M Hardy, E Perdrix, N Grova, V Riffault, B M Appenzeller, M Happillon, F Nesslany, P Coddeville, J-M Lo-Guidice, G Garçon
Even though clinical, epidemiological and toxicological studies have progressively provided a better knowledge of the underlying mechanisms by which air pollution-derived particulate matter (PM) exerts its harmful health effects, further in vitro studies on relevant cell systems are still needed. Hence, aiming of getting closer to the human in vivo conditions, primary human bronchial epithelial cells derived from normal subjects (NHBE) or sensitive chronic obstructive pulmonary disease (COPD)-diseased patients (DHBE) were differentiated at the air-liquid interface...
November 2017: Environmental Pollution
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