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https://www.readbyqxmd.com/read/28645153/defective-mitochondrial-rna-processing-due-to-pnpt1-variants-causes-leigh-syndrome
#1
Sanna Matilainen, Christopher J Carroll, Uwe Richter, Liliya Euro, Max Pohjanpelto, Anders Paetau, Pirjo Isohanni, Anu Suomalainen
Leigh syndrome is a severe infantile encephalopathy with an exceptionally variable genetic background. We studied the exome of a child manifesting with Leigh syndrome at one month of age and progressing to death by the age of 2.4 years, and identified novel compound heterozygous variants in PNPT1, encoding the polynucleotide phosphorylase (PNPase). Expression of the wild type PNPT1 in the subject's myoblasts functionally complemented the defects, and the pathogenicity was further supported by structural predictions and protein and RNA analyses...
June 22, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28645052/cardiorespiratory-responses-of-air-filtration-a-randomized-crossover-intervention-trial-in-seniors-living-in-beijing-beijing-indoor-air-purifier-study-biapsy
#2
Danqing Shao, Yipeng Du, Shuo Liu, Bert Brunekreef, Kees Meliefste, Qian Zhao, Jie Chen, Xiaoming Song, Meng Wang, Juan Wang, Hongbing Xu, Rongshan Wu, Tong Wang, Baihuan Feng, Candice Shih-Chun Lung, Xian Wang, Bei He, Wei Huang
In this Beijing Indoor Air Purifier StudY (BIAPSY), we conducted a randomized crossover intervention trial in a panel of 35 non-smoking senior participants with free-living, with and without chronic obstructive pulmonary disease (COPD). Portable air filtration units were randomly allocated to active-(filter in) for 2weeks and sham-mode (filter out) for 2weeks in the households. We examined the differences in indoor air pollutant concentrations in 20 study homes and a suite of cardio-respiratory biomarker levels in study participants between filtration modes, with and without adjustment for potential confounders...
June 20, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/28644565/long-term-risk-of-infection-in-patients-with-crohn-s-disease-on-anti-tnf-treatment-a-prospective-single-center-cohort-study-in-china
#3
Yue Li, Hui Jun Shu, Hong Lu, Hong Yang, Ji Li, Bei Tan, Jiaming Qian
BACKGROUND: Anti-TNF agents have demonstrated to greatly improve management strategies for inflammatory bowel disease (IBD). Clinical trials and registry studies in Western countries have shown that infections and malignancy are the most concerned complications of anti-TNF treatment. However, data derived from clinical practice in China are limited. The aim of this study is to explore the long-term infection risk of infliximab (IFX) in treating patients with Crohn's disease (CD) from a tertiary IBD center in China...
June 23, 2017: Journal of Digestive Diseases
https://www.readbyqxmd.com/read/28644430/the-clinical-landscape-for-sma-in-a-new-therapeutic-era
#4
REVIEW
K Talbot, E F Tizzano
Despite significant advances in basic research, the treatment of degenerative diseases of the nervous system remains one of the greatest challenges for translational medicine. The childhood onset motor neuron disorder spinal muscular atrophy (SMA) has been viewed as one of the more tractable targets for molecular therapy, due to a detailed understanding of the molecular genetic basis of the disease. In SMA, inactivating mutations in the SMN1 gene can be partially compensated for by limited expression of SMN protein from a variable number of copies of the SMN2 gene, which provides both a molecular explanation for phenotypic severity and a target for therapy...
June 23, 2017: Gene Therapy
https://www.readbyqxmd.com/read/28644389/chronic-respiratory-infection-in-patients-with-chronic-obstructive-pulmonary-disease-what-is-the-role-of-antibiotics
#5
REVIEW
Marc Miravitlles, Antonio Anzueto
Chronic infections are associated with exacerbation in patients with chronic obstructive pulmonary disease (COPD). The major objective of the management of these patients is the prevention and effective treatment of exacerbations. Patients that have increased sputum production, associated with purulence and worsening shortness of breath, are the ones that will benefit from antibiotic therapy. It is important to give the appropriate antibiotic therapy to prevent treatment failure, relapse, and the emergence of resistant pathogens...
June 23, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28644156/clinical-case-of-the-month-a-57-year-old-man-with-an-axillary-mass
#6
Palak Desai, Andrew Myers, Brian Boulmay, Fred A Lopez
A 57-year-old man presented to the surgical oncology clinic with a mildly tender mass under his right arm. Four years prior, the patient had a melanoma removed from his right shoulder along with an ipsilateral right axillary sentinel lymph sampling. Computed tomography (CT) scan was negative for metastatic disease at that time. The patient did not undergo completion axillary node dissection and was lost to follow-up. The patient was originally from Australia, did not tan but reported multiple sunburns before age 18...
May 2017: Journal of the Louisiana State Medical Society: Official Organ of the Louisiana State Medical Society
https://www.readbyqxmd.com/read/28643675/-stop-bang-a-useful-and-easy-tool-for-the-screening-of-obstructive-sleep-apnea
#7
Matías Baldini, María Nélida Chiapella, María Alejandra Fernández, Sergio Guardia
The STO-BANG questionnaire, S standing for snore, T tired, O observed apneas, P pressure (arterial hypertension), B BMI (body mass index > 35 kg/ m2), A age (> 50 years old), N neck circumference (> 40 cm), G gender (male); is a simple tool that enables the detection of patients with obstructive sleep apnea syndrome (OSA). If the patient adds 3 or more points, it is considered to have a high probability of having this disease. Our goal was to evaluate the capacity of the STOP-BANG questionnaire and to compare it with the ability of a sleep trained pulmonologist in determining the probability of OSA...
2017: Medicina
https://www.readbyqxmd.com/read/28643622/lung-microbiota-and-its-impact-on-the-mucosal-immune-phenotype
#8
Benjamin G Wu, Leopoldo N Segal
The use of culture-independent techniques has allowed us to appreciate that the upper and lower respiratory tract contain a diverse community of microbes in health and disease. Research has only recently explored the effects of the microbiome on the host immune response. The exposure of the human body to the bacterial environment is an important factor for immunological development; thus, the interaction between the microbiome and its host is critical to understanding the pathogenesis of disease. In this article, we discuss the mechanisms that determine the composition of the airway microbiome and its effects on the host immune response...
June 2017: Microbiology Spectrum
https://www.readbyqxmd.com/read/28643320/revised-protocol-of-extracorporeal-membrane-oxygenation-ecmo-therapy-in-severe-ards-recommendations-of-the-veno-venous-ecmo-expert-panel-appointed-in-february-2016-by-the-national-consultant-on-anesthesiology-and-intensive-care
#9
Romuald Lango, Zbigniew Szkulmowski, Dariusz Maciejewski, Andrzej Sosnowski, Krzysztof Kusza
Extracorporeal Membrane Oxygenation (ECMO) has become well established technique of the treatment of severe acute respiratory failure (Veno-Venous ECMO) or circulatory failure (Veno-Arterial ECMO) which enables effective blood oxygenation and carbon dioxide removal for several weeks. Veno-Venous ECMO (V-V ECMO ) is a lifesaving treatment of patients in whom severe ARDS makes artificial lung ventilation unlikely to provide satisfactory blood oxygenation for preventing further vital organs damage and progression to death...
2017: Anaesthesiology Intensive Therapy
https://www.readbyqxmd.com/read/28643291/-more-than-expectorant-new-scientific-data-on-ambroxol-in-the-context-of-the-treatment-of-bronchopulmonary-diseases
#10
Manuel Plomer, Justus de Zeeuw
BACKGROUND: Ambroxol has been established for decades in the treatment of acute and chronic respiratory diseases. In 2015, the European Medicines Agency reassessed the clinical benefit-risk ratio of the drug. OBJECTIVE: What new scientific data on ambroxol, which are relevant to the treatment of bronchopulmonary diseases, are available? METHOD: The review is based on a systematic literature research in medline with the search term "ambroxol" during the publication period 2006-2015...
June 2017: MMW Fortschritte der Medizin
https://www.readbyqxmd.com/read/28643288/inhibitory-effect-of-fsllry-nh2-on-inflammatory-responses-induced-by-hydrogen-peroxide-in-hepg2-cells
#11
Yeon Joo Lee, Su Jin Kim, Kyoung Wan Kwon, Won Mo Lee, Wi Joon Im, Uy Dong Sohn
Proteinase activated receptor 2 (PAR2), which is localized in the GI tract, the respiratory system, and the kidney tubules is a G protein-coupled receptor associated with inflammation, metabolism, and disease. The aim of this study was to explore the role of PAR2 in hydrogen peroxide (H2O2)-induced HepG2 cells by using FSLLRY-NH2 a PAR2 antagonist. H2O2 treatment resulted in induction of PAR2 in esophageal, gastric, and liver cells, with the most robust response being in HepG2 cells. Furthermore, this effect was dose-dependent in HepG2 cells...
June 22, 2017: Archives of Pharmacal Research
https://www.readbyqxmd.com/read/28643204/host-factors-in-coronavirus-replication
#12
Adriaan H de Wilde, Eric J Snijder, Marjolein Kikkert, Martijn J van Hemert
Coronaviruses are pathogens with a serious impact on human and animal health. They mostly cause enteric or respiratory disease, which can be severe and life threatening, e.g., in the case of the zoonotic coronaviruses causing severe acute respiratory syndrome (SARS) and Middle East Respiratory Syndrome (MERS) in humans. Despite the economic and societal impact of such coronavirus infections, and the likelihood of future outbreaks of additional pathogenic coronaviruses, our options to prevent or treat coronavirus infections remain very limited...
June 23, 2017: Current Topics in Microbiology and Immunology
https://www.readbyqxmd.com/read/28643188/impact-of-appropriateness-of-empiric-therapy-on-outcomes-in-community-onset-bacteremia-by-extended-spectrum-%C3%AE-lactamase-producing-escherichia-coli-and-klebisella-pneumoniae-definitively-treated-with-carbapenems
#13
E-J Joo, D A Park, N R Lee, S-Y Moon, J-K Choi, J-H Ko, K R Peck
Despite a significant increase of bloodstream infection caused by extended-spectrum-β-lactamase (ESBL)-producing Enterobacteriaceae in the community-setting, information regarding clinical outcomes of inappropriate empiric therapy (IAT) in patients with those infections is limited. A multicenter-retrospective cohort study was conducted in four hospitals. A total of 249 adults were identified to have community-onset bacteremia caused by ESBL-producing Escherichia coli and Klebsiella pneumoniae, and definitively treated with carbapenems...
June 23, 2017: European Journal of Clinical Microbiology & Infectious Diseases
https://www.readbyqxmd.com/read/28642799/extraoral-taste-receptor-discovery-new-light-on-ayurvedic-pharmacology
#14
REVIEW
Marilena Gilca, Dorin Dragos
More and more research studies are revealing unexpectedly important roles of taste for health and pathogenesis of various diseases. Only recently it has been shown that taste receptors have many extraoral locations (e.g., stomach, intestines, liver, pancreas, respiratory system, heart, brain, kidney, urinary bladder, pancreas, adipose tissue, testis, and ovary), being part of a large diffuse chemosensory system. The functional implications of these taste receptors widely dispersed in various organs or tissues shed a new light on several concepts used in ayurvedic pharmacology (dravyaguna vijnana), such as taste (rasa), postdigestive effect (vipaka), qualities (guna), and energetic nature (virya)...
2017: Evidence-based Complementary and Alternative Medicine: ECAM
https://www.readbyqxmd.com/read/28642621/variants-of-the-abca3-gene-might-contribute-to-susceptibility-to-interstitial-lung-diseases-in-the-chinese-population
#15
Wei Zhou, Yi Zhuang, Jiapeng Sun, Xiaofen Wang, Qingya Zhao, Lizhi Xu, Yaping Wang
ATP-binding cassette A3 (ABCA3) is a phospholipid carrier that is mainly expressed in the alveolar epithelium. Biallelic mutations of ABCA3 has been associated with fatal respiratory distress syndrome and interstitial lung disease (ILD) in children. However, whether variations in ABCA3 have a role in the development of adult ILD, including idiopathic pulmonary fibrosis (IPF), remains to be addressed. In this study, we screened for germline variants of ABCA3 by exons-sequencing in 30 patients with sporadic IPF and in 30 matched healthy controls...
June 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28642611/engineered-newcastle-disease-virus-expressing-the-f-and-g-proteins-of-ampv-c-confers-protection-against-challenges-in-turkeys
#16
Haixia Hu, Jason P Roth, Laszlo Zsak, Qingzhong Yu
Avian metapneumovirus (AMPV) infects the respiratory and reproductive tracts of domestic poultry, resulting in substantial economic losses for producers. Live attenuated vaccines appear to be the most effective in countries where the disease is prevalent. However, reversion to virulence has been demonstrated in several studies. Therefore, the development of a stable and safe next generation vaccine against the AMPV disease is needed. In the present study, we generated a recombinant Newcastle disease virus (NDV) vectoring the fusion (F) protein and glycoprotein (G) genes of AMPV subtype-C (AMPV-C) as a bivalent vaccine candidate using reverse genetics technology...
June 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28642454/inclusion-body-myositis-a-case-presenting-with-respiratory-failure-and-autopsy-findings-leading-to-the-hypothesis-of-a-paraneoplastic-cause
#17
Christopher Dardis, Ariel Antezana, Kurenai Tanji, Paul J Maccabee
BACKGROUND Sporadic inclusion body myositis (IBM) is the most common acquired myopathy seen in adults aged over 50 years, with a prevalence estimated at between 1 and 70 per million. Weakness of the diaphragm with loss of vital capacity is almost universal in IBM. This is almost always asymptomatic. When respiratory complications occur, they are most often due to aspiration. Respiratory failure due to diaphragmatic weakness is exceptionally rare, particularly as the presenting symptom of the disease. It is not currently considered to be a paraneoplastic syndrome...
June 23, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28642308/predicting-risk-of-undiagnosed-copd-development-and-validation-of-the-targetcopd-score
#18
Shamil Haroon, Peymane Adab, Richard D Riley, David Fitzmaurice, Rachel E Jordan
Chronic obstructive pulmonary disease (COPD) is greatly underdiagnosed worldwide and more efficient methods of case-finding are required. We developed and externally validated a risk score to identify undiagnosed COPD using primary care records.We conducted a retrospective cohort analysis of a pragmatic cluster randomised controlled case-finding trial in the West Midlands, UK. Participants aged 40-79 years with no prior diagnosis of COPD received a postal or opportunistic screening questionnaire. Those reporting chronic respiratory symptoms were assessed with spirometry...
June 2017: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/28642307/urban-green-and-grey-space-in-relation-to-respiratory-health-in-children
#19
Christina Tischer, Mireia Gascon, Ana Fernández-Somoano, Adonina Tardón, Aitana Lertxundi Materola, Jesus Ibarluzea, Amparo Ferrero, Marisa Estarlich, Marta Cirach, Martine Vrijheid, Elaine Fuertes, Albert Dalmau-Bueno, Mark J Nieuwenhuijsen, Josep M Antó, Jordi Sunyer, Payam Dadvand
We assessed the effect of three different indices of urban built environment on allergic and respiratory conditions.This study involved 2472 children participating in the ongoing INMA birth cohort located in two bio-geographic regions (Euro-Siberian and Mediterranean) in Spain. Residential surrounding built environment was characterised as 1) residential surrounding greenness based on satellite-derived normalised difference vegetation index (NDVI), 2) residential proximity to green spaces and 3) residential surrounding greyness based on urban land use patterns...
June 2017: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/28642230/a-review-of-pulmonary-toxicity-of-electronic-cigarettes-in-the-context-of-smoking-a-focus-on-inflammation
#20
Peter G Shields, Micah Berman, Theodore M Brasky, Jo L Freudenheim, Ewy A Mathe, Joseph McElroy, Min-Ae Song, Mark D Wewers
The use of electronic cigarettes (e-cigs) is increasing rapidly, but their effects on lung toxicity are largely unknown. Smoking is a well-established cause of lung cancer and respiratory disease, in part through inflammation. It is plausible that e-cig use might affect similar inflammatory pathways. E-cigs are used by some smokers as an aid for quitting or smoking reduction, and by never smokers (e.g., adolescents and young adults). The relative effects for impacting disease risk may differ for these groups...
June 22, 2017: Cancer Epidemiology, Biomarkers & Prevention
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