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https://www.readbyqxmd.com/read/28102874/cardiorespiratory-hospitalisation-and-mortality-reductions-after-smoking-bans-in-switzerland
#1
Ana M Vicedo-Cabrera, Martin Röösli, Dragana Radovanovic, Leticia Grize, Fabienne Witassek, Christian Schindler, Laura Perez
INTRODUCTION: Smoking bans are considered one of the most effective policies to reduce population exposure to tobacco smoke and prevent adverse health outcomes. However, evidence on the effect of contextual variables on the effectiveness of smoking bans is still lacking. AIMS: The patchwork of cantonal smoke-free laws in Switzerland was used as a quasi-experimental setting to assess changes after their introduction in: hospitalisations and mortality due to cardiorespiratory diseases in adults; total hospitalisations and hospitalisations due to respiratory disorders in children; and the modifying effects of contextual factors and the effectiveness of the laws...
January 19, 2017: Swiss Medical Weekly
https://www.readbyqxmd.com/read/28102546/ataluren-and-similar-compounds-specific-therapies-for-premature-termination-codon-class-i-mutations-for-cystic-fibrosis
#2
REVIEW
Aisha A Aslam, Colin Higgins, Ian P Sinha, Kevin W Southern
BACKGROUND: Cystic fibrosis is a common life-shortening genetic disorder in the Caucasian population (less common in other ethnic groups) caused by the mutation of a single gene that codes for the production of the cystic fibrosis transmembrane conductance regulator protein. This protein coordinates the transport of salt (and bicarbonate) across cell surfaces and the mutation most notably affects the airways. In the lungs of people with cystic fibrosis, defective protein results in a dehydrated surface liquid and compromised mucociliary clearance...
January 19, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28099492/priming-cross-protective-bovine-viral-diarrhea-virus-specific-immunity-using-live-vectored-mosaic-antigens
#3
Shehnaz Lokhandwala, Xin Fang, Suryakant D Waghela, Jocelyn Bray, Leo M Njongmeta, Andy Herring, Karim W Abdelsalam, Christopher Chase, Waithaka Mwangi
Bovine viral diarrhea virus (BVDV) plays a key role in bovine respiratory disease complex, which can lead to pneumonia, diarrhea and death of calves. Current vaccines are not very effective due, in part, to immunosuppressive traits and failure to induce broad protection. There are diverse BVDV strains and thus, current vaccines contain representative genotype 1 and 2 viruses (BVDV-1 & 2) to broaden coverage. BVDV modified live virus (MLV) vaccines are superior to killed virus vaccines, but they are susceptible to neutralization and complement-mediated destruction triggered by passively acquired antibodies, thus limiting their efficacy...
2017: PloS One
https://www.readbyqxmd.com/read/28095804/pulmonary-manifestations-in-niemann-pick-type-c-disease-with-mutations-in-npc2-gene-case-report-and-review-of-literature
#4
Jayesh Sheth, Jijo John Joseph, Krati Shah, Mamta Muranjan, Mehul Mistri, Frenny Sheth
BACKGROUND: Niemann-Pick disease type C (NPC) is an inherited metabolic disorder; due to defect in cellular cholesterol trafficking. It is clinically a heterogeneous disease with variable age of onset with multiple organ systems being involved. NPC1 gene is involved in 95% cases where as remaining ~5% cases are linked with NPC2 gene. CASE PRESENTATION: Case-1, a 14-months-old female presented with recurrent respiratory distress, failure to thrive and hepatosplenomegaly...
January 17, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28095408/patient-safety-incidents-involving-sick-children-in-primary-care-in-england-and-wales-a-mixed-methods-analysis
#5
Philippa Rees, Adrian Edwards, Colin Powell, Peter Hibbert, Huw Williams, Meredith Makeham, Ben Carter, Donna Luff, Gareth Parry, Anthony Avery, Aziz Sheikh, Liam Donaldson, Andrew Carson-Stevens
BACKGROUND: The UK performs poorly relative to other economically developed countries on numerous indicators of care quality for children. The contribution of iatrogenic harm to these outcomes is unclear. As primary care is the first point of healthcare contact for most children, we sought to investigate the safety of care provided to children in this setting. METHODS AND FINDINGS: We undertook a mixed methods investigation of reports of primary care patient safety incidents involving sick children from England and Wales' National Reporting and Learning System between 1 January 2005 and 1 December 2013...
January 2017: PLoS Medicine
https://www.readbyqxmd.com/read/28076799/adenylyl-cyclase-type-9-gene-polymorphisms-are-associated-with-asthma-and-allergy-in-brazilian-children
#6
Helena M P Teixeira, Neuza M Alcantara-Neves, Maurício Barreto, Camila A Figueiredo, Ryan S Costa
Asthma is a chronic inflammatory disease of the respiratory tract. This heterogeneous disease is caused by the interaction of interindividual genetic variability and environmental factors. The gene adenylyl cyclase type 9 (ADCY9) encodes a protein called adenylyl cyclase (AC), responsible for producing the second messenger cyclic AMP (cAMP). cAMP is produced by T regulatory cells and is involved in the down-regulation of T effector cells. Failures in cAMP production may be related to an imbalance in the regulatory immune response, leading to immune-mediated diseases, such as allergic disorders...
January 8, 2017: Molecular Immunology
https://www.readbyqxmd.com/read/28075489/cough-augmentation-techniques-for-extubation-or-weaning-critically-ill-patients-from-mechanical-ventilation
#7
REVIEW
Louise Rose, Neill Kj Adhikari, David Leasa, Dean A Fergusson, Douglas McKim
BACKGROUND: There are various reasons why weaning and extubation failure occur, but ineffective cough and secretion retention can play a significant role. Cough augmentation techniques, such as lung volume recruitment or manually- and mechanically-assisted cough, are used to prevent and manage respiratory complications associated with chronic conditions, particularly neuromuscular disease, and may improve short- and long-term outcomes for people with acute respiratory failure. However, the role of cough augmentation to facilitate extubation and prevent post-extubation respiratory failure is unclear...
January 11, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28065684/ighmbp2-related-clinical-and-genetic-features-in-a-cohort-of-chinese-charcot-marie-tooth-disease-type-2-patients
#8
Lei Liu, Xiaobo Li, Zhengmao Hu, Xiao Mao, Xiaohong Zi, Kun Xia, Beisha Tang, Ruxu Zhang
IGHMBP2 mutations had been exclusively associated with spinal muscular atrophy with respiratory distress type I. However, increasing AR-CMT2S cases without respiratory failure caused by IGHMBP2 mutations have been reported in the past two years. We detected IGHMBP2 mutations in a cohort of Chinese CMT2 patients using genes panel testing, polymerase chain reaction and Sanger sequencing. We found four families with autosomal recessive IGHMBP2 mutations, and the frequency of IGHMBP2 mutations is 6.5% in CMT2 without dominant inheritance...
November 18, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28049363/circulating-chromogranin-b-levels-in-patients-with-acute-respiratory-failure-data-from-the-finnali-study
#9
Peder Langeland Myhre, Mats Stridsberg, Rita Linko, Marjatta Okkonen, Ståle Nygård, Geir Christensen, Ville Pettilä, Torbjørn Omland, Helge Røsjø
PURPOSE: Circulating chromogranin B (CgB) levels are increased in situations characterized by systemic and myocardial stress, but whether CgB provides prognostic information in patients with acute respiratory failure (ARF) is unknown. METHODS: We included 584 patients with ARF, defined as ventilatory support >6 h, and with blood samples available on Intensive Care Unit (ICU) admission and day 3 (n = 479). CgB levels were measured by radioimmunoassay and follow-up was 90 days...
January 3, 2017: Biomarkers: Biochemical Indicators of Exposure, Response, and Susceptibility to Chemicals
https://www.readbyqxmd.com/read/28035951/a-systematic-review-of-the-role-of-dysfunctional-wound-healing-in-the-pathogenesis-and-treatment-of-idiopathic-pulmonary-fibrosis
#10
REVIEW
Alan Betensley, Rabab Sharif, Dimitrios Karamichos
Idiopathic pulmonary fibrosis (IPF) is a chronic, progressive interstitial lung disorder showcasing an interaction between genetic predisposition and environmental risks. This usually involves the coaction of a mixture of cell types associated with abnormal wound healing, leading to structural distortion and loss of gas exchange function. IPF bears fatal prognosis due to respiratory failure, revealing a median survival of approximately 2 to 3 years. This review showcases the ongoing progress in understanding the complex pathophysiology of IPF and it highlights the latest potential clinical treatments...
December 26, 2016: Journal of Clinical Medicine
https://www.readbyqxmd.com/read/28031836/pulmonary-alveolar-proteinosis-a-case-report-and-world-literature-review
#11
Armando J Huaringa, Wassem H Francis
Pulmonary alveolar proteinosis (PAP) is a lung disorder which was first described in 1958 by Rosen et al. and is indeed rare disease with a prevalence of 0.1 per 100,000 individuals. PAP is characterized by abnormal accumulation of pulmonary surfactant in the alveolar space, which impairs gas exchange leading to a severe hypoxemia. Pulmonary surfactant is an insoluble proteinaceous material that is rich in lipids and stains positive with periodic acid-Schiff (PAS). The most common type of PAP is the so-called autoimmune or idiopathic type...
November 2016: Respirology Case Reports
https://www.readbyqxmd.com/read/27995398/a-slc39a8-variant-causes-manganese-deficiency-and-glycosylation-and-mitochondrial-disorders
#12
Lisa G Riley, Mark J Cowley, Velimir Gayevskiy, Tony Roscioli, David R Thorburn, Kristina Prelog, Melanie Bahlo, Carolyn M Sue, Shanti Balasubramaniam, John Christodoulou
SLC39A8 variants have recently been reported to cause a type II congenital disorder of glycosylation (CDG) in patients with intellectual disability and cerebellar atrophy. Here we report a novel SLC39A8 variant in siblings with features of Leigh-like mitochondrial disease. Two sisters born to consanguineous Lebanese parents had profound developmental delay, dystonia, seizures and failure to thrive. Brain MRI of both siblings identified bilateral basal ganglia hyperintensities on T2-weighted imaging and cerebral atrophy...
December 19, 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27986486/one-year-pivotal-trial-outcomes-of-the-nellix-system-for-endovascular-aneurysm-sealing
#13
Jeffrey P Carpenter, Robert Cuff, Clifford Buckley, Christopher Healey, Sajjad Hussain, Michel M P J Reijnen, Jose Trani, Dittmar Böckler
OBJECTIVE: The Nellix EndoVascular Aneurysm Sealing (EVAS) System (Endologix, Inc, Irvine, Calif) is a novel approach to abdominal aortic aneurysm (AAA) treatment whereby polymer is used to fill the AAA sac. We report 1-year results of the investigational device exemption pivotal trial. METHODS: Eligible patients were treated at 30 sites in the United States and Europe. Inclusion criteria required an asymptomatic infrarenal AAA, with a neck length ≥10 mm and ≤60° angle, iliac artery blood lumen diameter 9 to 35 mm, access artery diameter ≥6 mm, and serum creatinine ≤2 mg/dL...
December 13, 2016: Journal of Vascular Surgery
https://www.readbyqxmd.com/read/27986479/prospective-nonrandomized-study-to-evaluate-endovascular-repair-of-pararenal-and-thoracoabdominal-aortic-aneurysms-using-fenestrated-branched-endografts-based-on-supraceliac-sealing-zones
#14
Gustavo S Oderich, Mauricio Ribeiro, Jan Hofer, Jean Wigham, Stephen Cha, Julia Chini, Thanila A Macedo, Peter Gloviczki
PURPOSE: To investigate outcomes of manufactured fenestrated and branched endovascular aortic repair (F-BEVAR) endografts based on supraceliac sealing zones to treat pararenal aortic aneurysms and thoracoabdominal aortic aneurysms (TAAAs). METHODS: A total of 127 patients (91 male, mean age 75 ± 10 years old) were enrolled in a prospective, nonrandomized single-center study using manufactured F-BEVAR (November 2013-March 2015). Stent design was based on supraceliac sealing zone in all patients with ≥ four vessels in 111 (89%)...
December 13, 2016: Journal of Vascular Surgery
https://www.readbyqxmd.com/read/27974811/recessive-piezo2-stop-mutation-causes-distal-arthrogryposis-with-distal-muscle-weakness-scoliosis-and-proprioception-defects
#15
Goknur Haliloglu, Kerstin Becker, Cagri Temucin, Beril Talim, Nalan Küçükşahin, Matthias Pergande, Susanne Motameny, Peter Nürnberg, Ustun Aydingoz, Haluk Topaloglu, Sebahattin Cirak
The genetic work-up of arthrogryposis is challenging due to the diverse clinical and molecular etiologies. We report a-18(3/12)-year-old boy, from a 2nd degree consanguineous family, who presented at 3(6/12) years with hypotonia, distal laxity, contractures, feeding difficulties at birth. He required surgery for progressive scoliosis at 16 years of age, and walked independently since then with an unstable gait and coordination defects. His latest examination at 18 years of age revealed a proprioceptive defect and loss-of-joint position sense in the upper limbs...
December 15, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27938544/-the-alterations-and-clinical-significance-of-serum-thyroid-hormone-levels-in-patients-with-acute-exacerbation-of-chronic-obstructive-pulmonary-disease
#16
Y Cheng, L Dai, G G Xia
Objective: To observe the alterations of serum thyroid hormone levels in acute exacerbation of chronic obstructive pulmonary disease (AECOPD) patients without thyroid disease and therefore to investigate the association between serum thyroid hormone levels and the severity and prognosis of AECOPD. Methods: Serum thyroid hormone levels including TT4, TT3, TSH, FT4 and FT3 were measured by chemiluminescence immunoassay in 84 hospitalized patients with AECOPD [male 52, female 32, aged 50-93 years, average (78±10) years] and in 35 healthy subjects [male 20, female 15, aged 51-87 years, average (73±11) years] from 2013 to 2014...
December 12, 2016: Chinese Journal of Tuberculosis and Respiratory Diseases
https://www.readbyqxmd.com/read/27932059/classical-transient-receptor-potential-6-trpc6-channels-support-myofibroblast-differentiation-and-development-of-experimental-pulmonary-fibrosis
#17
Katharina Hofmann, Susanne Fiedler, Sarah Vierkotten, Jonas Weber, Stephan Klee, Jie Jia, Wolfgang Zwickenpflug, Veit Flockerzi, Ursula Storch, Ali Önder Yildirim, Thomas Gudermann, Melanie Königshoff, Alexander Dietrich
Pulmonary fibrosis (PF) is a chronic progressive lung disease without effective medical treatment options leading to respiratory failure and death within 3-5years of diagnosis. The pathological process of PF is driven by aberrant wound-healing involving fibroblasts and myofibroblasts differentiated by secreted profibrotic transforming growth factor β (TGF-β1). Classical transient receptor potential 6 (TRPC6), a Na(+)- and Ca(2+)-permeable cation channel, is able to promote myofibroblast conversion of primary rat cardiac and human dermal fibroblasts and TRPC6-deficiency impaired wound healing after injury...
February 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27916032/-lung-transplantation-for-phase-%C3%A2-silicosis-a-series-of-32-cases
#18
W J Mao, J Y Chen, M F Zheng, R Chen, Y J He, F Liu, S G Ye, R G Lu
Objective: To evaluate the effect of lung transplantation for phase Ⅲ silicosis. Methods: From September 2002 to September 2015, 32 patients with end-stage silicosis underwent lung transplantation at Department of Thoracic Surgery, Affiliated Wuxi People's Hospital, Nanjing Medical University. There were 29 male and 3 female patients aged from 24 to 63 years. Thirty-two patients were diagnosed as phase Ⅲ silicosis by the local occupational disease prevention and control center. Fifteen patients were type Ⅰ respiratory failure and 17 patients were type Ⅱ...
December 1, 2016: Zhonghua Wai Ke za Zhi [Chinese Journal of Surgery]
https://www.readbyqxmd.com/read/27911338/sleepiness-and-sleep-related-breathing-disorders-in-myotonic-dystrophy-and-responses-to-treatment-a-prospective-cohort-study
#19
Sophie D West, Hanns Lochmüller, Joan Hughes, Antonio Atalaia, Chiara Marini-Bettolo, Simon V Baudouin, Kirstie N Anderson
OBJECTIVE: We conducted prospective assessments in people with myotonic dystrophy type 1 (DM1) with daytime sleepiness, provided targeted therapies and assessed response. METHODS: Patients had overnight sleep assessments. Treatment with continuous positive airway pressure (CPAP) for OSA, non-invasive ventilation (NIV) for respiratory failure, modafinil for excessive daytime sleepiness were commenced. RESULTS: 120 people were studied: mean age 46...
November 29, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27900370/a-patient-with-multisystem-dysfunction-carries-a-truncation-mutation-in-human-slc12a2-the-gene-encoding-the-na-k-2cl-cotransporter-nkcc1
#20
Eric Delpire, Lynne Wolfe, Bianca Flores, Rainelli Koumangoye, Cara C Schornak, Salma Omer, Barbara Pusey, Christopher Lau, Thomas Markello, David R Adams
This study describes a 13-yr-old girl with orthostatic intolerance, respiratory weakness, multiple endocrine abnormalities, pancreatic insufficiency, and multiorgan failure involving the gut and bladder. Exome sequencing revealed a de novo, loss-of-function allele in SLC12A2, the gene encoding the Na-K-2Cl cotransporter-1. The 11-bp deletion in exon 22 results in frameshift (p.Val1026Phefs*2) and truncation of the carboxy-terminal tail of the cotransporter. Preliminary studies in heterologous expression systems demonstrate that the mutation leads to a nonfunctional transporter, which is expressed and trafficked to the plasma membrane alongside wild-type NKCC1...
November 2016: Cold Spring Harbor Molecular Case Studies
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