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respiratory insufficiency

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https://www.readbyqxmd.com/read/29451150/identification-of-seven-novel-mutations-in-the-acid-alpha-glucosidase-gene-in-five-chinese-patients-with-late-onset-pompe-disease
#1
Hua-Xu Liu, Chuan-Qiang Pu, Qiang Shi, Yu-Tong Zhang, Rui Ban
Background: Pompe disease is a rare lysosomal glycogen storage disorder linked to the acid alpha-glucosidase gene (GAA). A wide clinical and genetic variability exists between patients from different ethnic populations, and the genotype-phenotype correlations are still not well understood. The aim of this study was to report the clinicopathological and genetic characteristics of five Chinese patients with late-onset Pompe disease (LOPD) who carried novel GAA gene mutations. Methods: Clinical and pathological data of patients diagnosed with glycogen storage disease at our institution from April 1986 to August 2017 were collected, and next-generation sequencing of frozen muscle specimens was conducted...
February 20, 2018: Chinese Medical Journal
https://www.readbyqxmd.com/read/29449803/the-consequences-of-preterm-birth-and-chorioamnionitis-on-brainstem-respiratory-centers-implications-for-neurochemical-development-and-altered-functions-by-inflammation-and-prostaglandins
#2
REVIEW
Vanesa Stojanovska, Suzanne L Miller, Stuart B Hooper, Graeme R Polglase
Preterm birth is a major cause for neonatal morbidity and mortality, and is frequently associated with adverse neurological outcomes. The transition from intrauterine to extrauterine life at birth is particularly challenging for preterm infants. The main physiological driver for extrauterine transition is the establishment of spontaneous breathing. However, preterm infants have difficulty clearing lung liquid, have insufficient surfactant levels, and underdeveloped lungs. Further, preterm infants have an underdeveloped brainstem, resulting in reduced respiratory drive...
2018: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/29449118/shot-by-a-gun-%C3%A2-missed-by-a-provider
#3
Eddie Garcia, Abdul H Zaid, Diane P Calello, Lisa McHugh, Grant Arzumanov, Najaf Asrar, Ari Sapin, Kristin G Fless
BACKGROUND: Botulism is a paralytic disease caused by the neurotoxin produced by Clostridium botulinum. The majority of cases are due to ingestion or injection drug use. Wound botulism from traumatic injury is exceedingly rare, with only one to two cases reported each year in the United States. CASE REPORT: A 27-year-old man presented to the Emergency Department with diplopia, dysphagia, and progressive weakness 10 days after sustaining a gunshot wound to his right lower leg...
February 12, 2018: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/29445214/rack1-is-indispensable-for-porcine-reproductive-and-respiratory-syndrome-virus-replication-and-nf-%C3%AE%C2%BAb-activation-in-marc-145-cells
#4
Junlong Bi, Qian Zhao, Lingyun Zhu, Xidan Li, Guishu Yang, Jianping Liu, Gefen Yin
Porcine reproductive and respiratory syndrome virus (PRRSV) causes porcine reproductive and respiratory syndrome (PRRS), which is currently insufficiently controlled. RACK1 (receptor of activated protein C kinase 1) was first identified as a receptor for protein kinase C, with increasing evidence showing that the functionally conserved RACK1 plays important roles in cancer development, NF-κB activation and various virus infections. However, the roles of RACK1 during PRRSV infection in Marc-145 cells have not been described yet...
February 14, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29444760/risk-factors-for-persistent-aspergillus-respiratory-isolation-in-cystic-fibrosis
#5
Gina Hong, Kevin J Psoter, Mark T Jennings, Christian A Merlo, Michael P Boyle, Denis Hadjiliadis, Steven M Kawut, Noah Lechtzin
BACKGROUND: Aspergillus species are increasingly detected in the respiratory tracts of individuals with cystic fibrosis (CF), and chronic Aspergillus fumigatus is associated with more frequent hospitalizations for pulmonary exacerbations. However, patient and clinical factors that may contribute to the acquisition of persistent Aspergillus infection have yet to be identified. The objective of this study was to identify risk factors for development of Aspergillus respiratory isolation in CF...
February 12, 2018: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://www.readbyqxmd.com/read/29437510/factors-predicting-hospital-length-of-stay-following-pharyngeal-flap-for-velopharyngeal-insufficiency
#6
Jerry W Chao, Michael J Boyajian, Richard L Amdur, Benjamin J Mitchell, Gary F Rogers, Albert K Oh
OBJECTIVE: Routine hospital admission following pharyngeal flap (PF) to correct velopharyngeal insufficiency (VPI) is the standard at most hospitals. Nevertheless, there is increasing resistance from third-party providers to approve stays longer than a "short stay" (23-hour) observation period. The purpose of the current study was to evaluate length of stay (LOS) and document potential influencing factors following PF. DESIGN: Retrospective chart review...
March 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29436001/effects-of-pulsatile-blood-flow-on-oxygenator-performance
#7
Lotte Schraven, Andreas Kaesler, Christian Flege, Rüdger Kopp, Thomas Schmitz-Rode, Ulrich Steinseifer, Jutta Arens
Extracorporeal membrane oxygenation (ECMO) is mainly used for the therapy of acute respiratory distress syndrome and chronic obstructive lung disease. In the last years, the development of these systems underwent huge steps in optimization, but there are still problems with thrombus formation, clogging, and thus insufficient gas exchange. One idea of ECMO optimization is a pulsatile blood flow through the oxygenator, but this is still a controversy discussion. Analyzing available publications, it was not possible to identify a general statement about the effect of pulsatile blood flow on the gas exchange performance...
February 13, 2018: Artificial Organs
https://www.readbyqxmd.com/read/29434062/glucose-tolerance-insulin-secretion-sensitivity-characteristics-in-indian-children-with-cystic-fibrosis-a-pilot-study
#8
Vandana Jain, Santosh Kumar, Naval K Vikram, Mani Kalaivani, Surya Prakash Bhatt, Rajni Sharma, Kumar Kabra Sushil
Background & objectives: Cystic fibrosis (CF) is a life-limiting genetic condition resulting in chronic respiratory infections, pancreatic enzyme insufficiency and associated complications. This pilot study was undertaken to assess the glucose tolerance and insulin secretion and sensitivity among Indian children with CF. Methods: Children with CF under regular follow up at the Paediatric Pulmonology Clinic of a tertiary care hospital in New Delhi, India, were enrolled...
October 2017: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/29426048/-respiratory-insufficiency-state-of-the-art-diagnosis-and-therapy
#9
Sebastian Fritsch, Johannes Bickenbach
The term "respiratory insufficiency" (RI) describes the inability of an organism to maintain the gas exchange between the ambient air and its peripheral organs. This causes a hypoxia and hypercapnia. The mechanisms that lead to RI are either an impaired gas exchange in the lung tissue or an alveolar hypoventilation caused by an insufficient ventilatory pump. Thus the RI is divided into a hypoxic or a hypercapnic RI. The diagnostic procedure for RI contains several examinations. One key aspect of the exploration is the identification of potential reversible and thus correctable reasons of the RI...
February 2018: Anästhesiologie, Intensivmedizin, Notfallmedizin, Schmerztherapie: AINS
https://www.readbyqxmd.com/read/29425250/25-hydroxyvitamin-d-influenza-vaccine-response-and-healthcare-encounters-among-a-young-adult-population
#10
Rachel U Lee, Seung Hyun Won, Christian Hansen, Nancy F Crum-Cianflone
BACKGROUND: Influenza causes significant morbidity and mortality; the pandemic in 2009-2010 was a reminder of the potential for novel strains and antigenic changes. Studies have shown that vitamin D deficiency may be associated with poor vaccine immunogenicity, therefore we sought to determine if there was a correlation between 25-hydroxyvitamin D [25(OH)D] and influenza vaccine response. METHODS: A retrospective observational study was conducted among young, healthy military members to evaluate the association between total 25(OH)D levels with post influenza vaccination antibody titers and healthcare encounters during the 2009-10 influenza season...
2018: PloS One
https://www.readbyqxmd.com/read/29425066/whole-blood-gene-expression-profiling-predicts-severe-morbidity-and-mortality-in-cystic-fibrosis-a-5-year-follow-up-study
#11
Milene T Saavedra, Bradley S Quon, Anna Faino, Silvia M Caceres, Katie R Poch, Linda A Sanders, Kenneth C Malcolm, David P Nichols, Scott D Sagel, Jennifer L Taylor-Cousar, Sonia M Leach, Matthew Strand, Jerry A Nick
RATIONALE: Cystic fibrosis pulmonary exacerbations accelerate pulmonary decline and increase mortality. Previously, we identified a 10-gene leukocyte panel measured directly from whole blood, which indicates response to exacerbation treatment. We hypothesized that molecular characteristics of exacerbations could also predict future disease severity. OBJECTIVE: We tested whether a 10-gene panel measured from whole blood could identify patient cohorts at increased risk for severe morbidity and mortality, beyond standard clinical measures...
February 9, 2018: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/29424256/effect-of-coenzyme-q10-on-mitochondrial-respiratory-proteins-in-trigeminal-neuralgia
#12
Chutikorn Khuankaew, Nattayaporn Apaijai, Passakorn Sawaddiruk, Thidarat Jaiwongkam, Sasiwan Kerdphoo, Surawut Pongsiriwet, Wichittra Tassaneeyakul, Nipon Chattipakorn, Siriporn C Chattipakorn
Trigeminal neuralgia (TN) is the neuropathic pain. Mitochondrial dysfunction, increased oxidative stress, and inflammation demonstrated in chronic pain. Carbamazepine (CBZ) is the first-line drug for TN, however, it is still insufficient. Coenzyme Q10 (CoQ10) has been used as the additional supplement for pain therapy. Nonetheless, mitochondrial respiratory proteins, oxidative stress, and inflammation in TN, and the add-on effects of CoQ10 on those defects have never been investigated. CBZ-treated TN-patients, naïve TN-patients, and control subjects were included...
February 9, 2018: Free Radical Research
https://www.readbyqxmd.com/read/29411860/self-management-for-bronchiectasis
#13
REVIEW
Carol Kelly, Seamus Grundy, Dave Lynes, David Jw Evans, Sharada Gudur, Stephen J Milan, Sally Spencer
BACKGROUND: Bronchiectasis is a long term respiratory condition with an increasing rate of diagnosis. It is associated with persistent symptoms, repeated infective exacerbations, and reduced quality of life, imposing a burden on individuals and healthcare systems. The main aims of therapeutic management are to reduce exacerbations and improve quality of life. Self-management interventions are potentially important for empowering people with bronchiectasis to manage their condition more effectively and to seek care in a timely manner...
February 7, 2018: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29406439/oxygen-and-preterm-infant-resuscitation-what-else-do-we-need-to-know
#14
Ju-Lee Oei, Ola D Saugstad, Maximo Vento
PURPOSE OF REVIEW: To evaluate current evidence for the use of lower or higher oxygen strategies for preterm infant resuscitation RECENT FINDINGS: The equipoise for using higher fraction of inspired oxygen (FiO2) (>0.4) to initiate preterm infant respiratory stabilization has been lost. Recent meta-analyses of randomized controlled trials assessing outcomes after using higher (FiO2 ≥ 0.6) vs. lower (FiO2 ≤ 0.3) oxygen strategies to initiate preterm resuscitation shows no difference in the rates of death or major morbidities...
February 5, 2018: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/29406398/resuscitation-room-management-of-critically-ill-nontraumatic-patients-in-a-german-emergency-department-observe-study
#15
Michael Bernhard, Stephanie Döll, Thomas Hartwig, Alexandra Ramshorn-Zimmer, Maryam Yahiaoui-Doktor, Lorenz Weidhase, Sirak Petros, André Gries
BACKGROUND: Management of critically ill nontrauma (CINT) patients in the resuscitation room (RR) of the emergency department (ED) is very challenging. Detailed data describing the characteristics and management of this population are lacking. This observational study describes the epidemiology, management and outcome in CINT ED patients in the RR. PATIENTS AND METHODS: From September 2014 to August 2015, data were collected prospectively on adult CINT patients admitted to the RR of a single German University ED...
February 5, 2018: European Journal of Emergency Medicine: Official Journal of the European Society for Emergency Medicine
https://www.readbyqxmd.com/read/29404170/a-rare-case-of-progressive-dyspnea-and-bilateral-lung-infiltration-in-a-young-male
#16
Meltem Ağca, Fatma Tokgöz Akyıl, Merve Hörmet, Oğuzhan Akman, Canan Akman, Ayçim Şen, Tülin Sevim
Pulmonary lymphangitic carcinomatosis (PLC) is defined as infiltration of the lymphatic vessels and perilymphatic connective tissue with tumor cells, which is secondary to malignancy. Therefore, it rarely appears as an initial finding preceding a diagnosis of malignancy. A 30-year-old male patient was hospitalized in our clinic with a pre-diagnosis of interstitial lung disease owing to the complaints of dry cough, progressive dyspnea, and acute respiratory insufficiency. He was diagnosed with signet ring cell carcinoma, which is a histologic subtype of adenocarcinoma, via gastroscopy, and lung involvement was consistent with PLC...
July 2017: Turkish Thoracic Journal
https://www.readbyqxmd.com/read/29398271/tread-carefully-a-functional-variant-in-the-human-nadph-oxidase-4-nox4-is-not-disease-causing
#17
Michael Nafisinia, Minal Juliet Menezes, Wendy Anne Gold, Lisa Riley, Joshua Hatch, John Cardinal, David Coman, John Christodoulou
In this study, we report a paediatric patient with a lethal phenotype of respiratory distress, failure to thrive, pancreatic insufficiency, liver dysfunction, hypertrophic cardiomyopathy, bone marrow suppression, humoral and cellular immune deficiency. To identify the genetic basis of this unusual clinical phenotype and potentially make available the option of future prenatal testing, whole exome sequencing (WES) was used followed by functional studies in a bid to confirm pathogenicity. The WES we identified a homozygous novel variant, AK298328; c...
February 2, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29395564/-cohort-of-patients-initiated-to-home-ventilation-observational-and-prospective-study
#18
C Rabec, J Gonzalez-Bermejo, A Cuvelier, P Cervantes, D Foret, L Mounier, B Melloni, J-F Muir
Cohort of patients initiated to home ventilation. Observational and prospective study. The effectiveness of home noninvasive ventilation (NIV) for chronic respiratory failure (CRF) is well established. However, few data are available about home NIV prescription and utilization according to the different etiologies of respiratory failure. The ANTADIR Federation, in partnership with the Ventilatory Support Group of the French Speaking Pulmonary Society, has set up a national, observational and multicenter cohort study...
January 29, 2018: Revue des Maladies Respiratoires
https://www.readbyqxmd.com/read/29393015/-weak-respiratory-muscles-as-a-first-sign-of-als-symptoms-may-put-the-physician-on-the-wrong-track
#19
D Kiers, M Meermans, E Verstraete, H J van Leeuwen
BACKGROUND: Patients with decreased exercise tolerance and orthopnoea are often referred to an internist, a cardiologist or a pulmonologist. These symptoms can also be caused by weakness of the respiratory muscles, as an indication of a neuromuscular disease. If these symptoms are not recognized as such, this may result in a delay in timely diagnosis. CASE DESCRIPTION: An 82-year-old man had suffered from decreased exercise tolerance for 18 months. For the last months he had been sleeping upright and had lost 20 kg in weight...
2018: Nederlands Tijdschrift Voor Geneeskunde
https://www.readbyqxmd.com/read/29392060/three-cases-of-relapsing-polycondritis-with-isolated-laryngotracheal-stenosis
#20
Hamdi Taşlı, Hakan Birkent, Mustafa Gerek
Relapsing polychondritis (RP) is a rare autoimmune and inflammatory disease, particularly characterized by recurrent inflammation of the hyaline cartilage. Laryngotracheal involvement in RP is the most serious complication that is observed in 50% of the patients and may lead to a life-threatening condition. The most common cause of death is laryngotracheal stenosis associated with lung infections or severe respiratory insufficiency that may be observed in 10%-50% of the patients. In this study, three RP patients comprising a child with isolated laryngotracheal stenosis have been presented...
June 2017: Turkish Archives of Otorhinolaryngology
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