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chronic respiratory insufficiency

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https://www.readbyqxmd.com/read/28332779/intrafamilial-phenotypic-variability-in-a-polish-family-with-sensenbrenner-syndrome-and-biallelic-wdr35-mutations
#1
Joanna Walczak-Sztulpa, Anna Wawrocka, Agata Sobierajewicz, Lukasz Kuszel, Jan Zawadzki, Ryszard Grenda, Anna Swiader-Lesniak, Beata Kocyla-Karczmarewicz, Anna Wnuk, Anna Latos-Bielenska, Krystyna H Chrzanowska
Sensenbrenner syndrome (cranioectodermal dysplasia, CED) is a very rare autosomal recessive ciliopathy. Cranioectodermal dysplasia is characterized by craniofacial, skeletal, and ectodermal abnormalities. About 50 patients have been described to date. Sensenbrenner syndrome belongs to a group of ciliary chondrodysplasias and is a genetically heterogeneous disorder. Mutations in five genes: IFT122, WDR35, IFT43, WDR19, and IFT52 have been associated with CED. All known genes encode proteins that are part of the intraflagellar transport complex, which plays an important role in the assembly and maintenance of cilia...
March 23, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28293933/unmet-primary-physicians-needs-for-allergic-rhinitis-care-in-korea
#2
Hyeon Jong Yang, Young Hyo Kim, Bora Lee, Do Youn Kong, Dong Kyu Kim, Mi Ae Kim, Bong Seong Kim, Won Young Kim, Jeong Hee Kim, Yang Park, So Yeon Park, Woo Yong Bae, Keejae Song, Min Suk Yang, Sang Min Lee, Young Mok Lee, Hyun Jong Lee, Jae Hong Cho, Hye Mi Jee, Jeong Hee Choi, Young Yoo, Young Il Koh
Allergic rhinitis (AR) is one of the most common chronic allergic respiratory diseases worldwide. Various practical guidelines for AR have been developed and updated to improve the care of AR patients; however, up to 40% patients remain symptomatic. The unmet need for AR care is one of the greatest public health problems in the world. The gaps between guideline and real-world practice, and differences according to the region, culture, and medical environments may be the causes of unmet needs for AR care. Because there is no evidence-based AR practical guideline reflecting the Korean particularity, various needs are increasing...
May 2017: Allergy, Asthma & Immunology Research
https://www.readbyqxmd.com/read/28276182/application-of-the-national-early-warning-score-news-as-a-stratification-tool-on-admission-in-an-italian-acute-medical-ward-a-perspective-study
#3
Walter Spagnolli, Marta Rigoni, Emanuele Torri, Susanna Cozzio, Elisa Vettorato, Giandomenico Nollo
AIM: We aimed to assess the performance of the National Early Warning Score (NEWS) as tool for patient risk stratification at admission in an acute Internal Medicine ward and to ensure patient placement in ward areas with the required and most appropriate intensity of care. As secondary objective, we considered NEWS performance in two subgroups of patients: sudden cardiac events (acute coronary syndromes and arrhythmic events), and chronic respiratory insufficiency. METHODS: We conducted a perspective cohort single centre study on 2,677 unselected patients consecutively admitted from July 2013 to March 2015 in the Internal Medicine ward of the hospital of Trento, Italy...
March 9, 2017: International Journal of Clinical Practice
https://www.readbyqxmd.com/read/28274533/validation-of-the-japanese-severe-respiratory-insufficiency-questionnaire-in-hypercapnic-patients-with-noninvasive-ventilation
#4
Toru Oga, Hiroyuki Taniguchi, Hideo Kita, Tomomasa Tsuboi, Keisuke Tomii, Morihide Ando, Eiji Kojima, Hiromi Tomioka, Yoshio Taguchi, Yusuke Kaji, Ryoji Maekura, Toru Hiraga, Naoki Sakai, Tomoki Kimura, Michiaki Mishima, Wolfram Windisch, Kazuo Chin
BACKGROUND: The Severe Respiratory Insufficiency (SRI) Questionnaire was originally developed in German to assess health-related quality of life (HRQL) and was validated as a multidimensional instrument with high psychometric properties in chronic hypercapnic respiratory failure (CHRF) patients receiving noninvasive ventilation (NIV). We aimed to investigate the intercultural adaptation of the Japanese SRI Questionnaire and whether it is a reliable and valid HRQL questionnaire to administer to those patients...
March 2017: Respiratory Investigation
https://www.readbyqxmd.com/read/28269790/cardiac-involvement-classification-and-therapeutic-management-in-patients-with-duchenne-muscular-dystrophy
#5
Abdallah Fayssoil, Soumeth Abasse, Katy Silverston
Duchenne muscular dystrophy (DMD) is an inherited myogenic disorder due to mutations in the dystrophin gene on chromosome Xp21.1. The clinical picture included peripheral muscle weakness, cardiomyopathy and chronic respiratory insufficiency. In this paper, the authors review cardiac involvement in patients with DMD, propose a cardiac impairment classification and discuss therapeutic management options.
2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28261214/the-influence-of-the-microbiome-on-early-life-severe-viral-lower-respiratory-infections-and-asthma-food-for-thought
#6
REVIEW
Jason P Lynch, Md Al Amin Sikder, Bodie F Curren, Rhiannon B Werder, Jennifer Simpson, Páraic Ó Cuív, Paul G Dennis, Mark L Everard, Simon Phipps
Severe viral lower respiratory infections are a major cause of infant morbidity. In developing countries, respiratory syncytial virus (RSV)-bronchiolitis induces significant mortality, whereas in developed nations the disease represents a major risk factor for subsequent asthma. Susceptibility to severe RSV-bronchiolitis is governed by gene-environmental interactions that affect the host response to RSV infection. Emerging evidence suggests that the excessive inflammatory response and ensuing immunopathology, typically as a consequence of insufficient immunoregulation, leads to long-term changes in immune cells and structural cells that render the host susceptible to subsequent environmental incursions...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28252542/regional-anesthesia-with-noninvasive-ventilation-for-shoulder-surgery-in-a-patient-with-severe-chronic-obstructive-pulmonary-disease-a-case-report
#7
Fabrice Ferré, Nina Cugnin, Charlotte Martin, Philippe Marty, Nicolas Bonnevialle, Matt Kurrek, Vincent Minville
Interscalene block (ISB) impairs ipsilateral lung function and generally is not used for patients with respiratory insufficiency. We present a 49-year-old man with chronic obstructive pulmonary disease scheduled for shoulder surgery. He was given a regional technique with an ISB (short-acting local anesthetic to minimize duration of diaphragmatic dysfunction) and suprascapular and axillary nerves blocks (long-acting local anesthetic). He was supported with noninvasive ventilation during the time of hemidiaphragmatic paralysis as documented by serial ultrasound examination...
March 1, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/28238622/validation-of-the-portuguese-severe-respiratory-insufficiency-questionnaire-for-home-mechanically-ventilated-patients
#8
C Ribeiro, D Ferreira, S Conde, P Oliveira, W Windisch
The aim of this study was to develop and validate the professional translation and cultural adaptation of the Portuguese Severe Respiratory Insufficiency (SRI) Questionnaire. The sample was composed of 93 patients (50 male patients, 53.8%) with a mean age of 66.3 years. The most frequent diagnostic groups were chronic obstructive pulmonary disease, obesity hypoventilation syndrome and restrictive chest wall disorders. The patients were asked to fill in both the SRI and SF-36 questionnaires. Factor analysis of the SRI questionnaire was performed leading to an explained variance of 73%, and resulted in 13 components...
February 23, 2017: Revista Portuguesa de Pneumologia
https://www.readbyqxmd.com/read/28238333/obstructive-sleep-apnea-hypopnea-syndrome-in-patients-with-severe-chronic-respiratory-insufficiency
#9
Ana Hernández Voth, Javier Sayas Catalán, Pedro Benavides Mañas, Alicia de Pablo Gafas, Trinidad Díaz Cambriles, Victoria Villena Garrido
INTRODUCTION AND OBJECTIVE: Although sleep disordered breathing is common in patients with a severe chronic respiratory insufficiency (SCRI), there is few information on its prevalence. Our aim was to describe the prevalence and characteristics of the obstructive sleep apnea-hypopnea syndrome (OSAHS) in these patients. MATERIAL AND METHODS: Prospective and observational study carried out on patients with a SCRI included in a waiting list for a lung transplantation and who had undergone a standard polysomnography...
February 18, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/28210329/respiratory-illness-in-children-with-disability-a-serious-problem
#10
REVIEW
Marijke Proesmans
KEY POINTS: Children with neurocognitive impairment often present with chronic or recurrent respiratory problems.The respiratory problems have an important impact on quality of life and life expectancy.The underlying causes are multiple: risk of aspiration, insufficient cough, upper airway obstruction and progressive kyphoscoliosis.There is often a complex interplay between these known risk factors.The diagnostic and therapeutic approach should be multidisciplinary. EDUCATIONAL AIMS: To provide data on the prevalence of respiratory problems in children with disability and to increase awareness on this topic...
December 2016: Breathe
https://www.readbyqxmd.com/read/28198758/medication-reconciliation-failures-in-children-and-young-adults-with-chronic-disease-during-intensive-and-intermediate-care
#11
Danielle D DeCourcey, Melanie Silverman, Esther Chang, Al Ozonoff, Carolyn Stickney, Darla Pichoff, Alexandra Oldershaw, Jonathan A Finkelstein
OBJECTIVES: Although medication reconciliation has become standard during hospital admission, rates of unintentional medication discrepancies during intensive care of pediatric patients with chronic disease are unknown. Such discrepancies are an important cause of adverse drug events in adults with chronic illness and are associated with unintentional discontinuation of chronic medications. We sought to determine the rate, type, timing, and predictors of potentially harmful unintentional medication discrepancies in children and young adults with chronic disease...
February 14, 2017: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/28185594/sleep-apnoea-in-australian-men-disease-burden-co-morbidities-and-correlates-from-the-australian-longitudinal-study-on-male-health
#12
Chamara Visanka Senaratna, Dallas R English, Dianne Currier, Jennifer L Perret, Adrian Lowe, Caroline Lodge, Melissa Russell, Sashane Sahabandu, Melanie C Matheson, Garun S Hamilton, Shyamali C Dharmage
BACKGROUND: Obstructive sleep apnoea is a common disorder with under-rated clinical impact, which is increasingly being recognised as having a major bearing on global disease burden. Men are especially vulnerable and become a priority group for preventative interventions. However, there is limited information on prevalence of the condition in Australia, its co-morbidities, and potential risk factors. METHODS: We used data from 13,423 adult men included in the baseline wave of Ten to Men, an Australian national study of the health of males, assembled using stratified cluster sampling with oversampling from rural and regional areas...
October 31, 2016: BMC Public Health
https://www.readbyqxmd.com/read/28182155/clinical-audit-of-copd-in-outpatient-respiratory-clinics-in-spain-the-epoconsul-study
#13
Myriam Calle Rubio, Bernardino Alcázar Navarrete, Joan B Soriano, Juan J Soler-Cataluña, José Miguel Rodríguez González-Moro, Manuel E Fuentes Ferrer, José Luis López-Campos
BACKGROUND: Chronic obstructive pulmonary disease (COPD) outpatients account for a large burden of usual care by respirologists. EPOCONSUL is the first national clinical audit conducted in Spain on the medical care for COPD patients delivered in outpatient respiratory clinics. We aimed to evaluate the clinical interventions and the degree of adherence to recommendations in outpatients of current COPD clinical practice guidelines. METHODOLOGY: This is an observational study with prospective recruitment (May 2014-May 2015) of patients with a COPD diagnosis as seen in outpatient respiratory clinics...
2017: International Journal of Chronic Obstructive Pulmonary Disease
https://www.readbyqxmd.com/read/28162941/stem-cells-and-bronchopulmonary-dysplasia-the-five-questions-which-cells-when-in-which-dose-to-which-patients-via-which-route
#14
REVIEW
Martin Mueller, Boris W Kramer
Preterm birth is the leading cause of death in newborns and children. Despite advances in perinatology, immature infants continue to face serious risks such chronic respiratory impairment from bronchopulmonary dysplasia (BPD). Current treatment options are insufficient and novel approaches are desperately needed. In recent years stem cells have emerged as potential candidates to treat BPD with mesenchymal stem/stromal cells (MSCs) being particularly promising. MSCs originate from several stem cell niches including bone marrow, skin, or adipose, umbilical cord, and placental tissues...
December 24, 2016: Paediatric Respiratory Reviews
https://www.readbyqxmd.com/read/28153850/comorbidities-and-complications-of-spinal-fusion-for-scoliosis
#15
Jay G Berry, Michael Glotzbecker, Jonathan Rodean, Izabela Leahy, Matt Hall, Lynne Ferrari
BACKGROUND AND OBJECTIVES: General pediatricians and hospitalists are increasingly summoned to optimize the comorbid conditions of children with medical complexity (CMC) undergoing major surgery. We assessed the relationship between specific chronic conditions of CMC and hospital resource use with spinal fusion for scoliosis, an operation with high cost and morbidity. METHODS: Retrospective analysis of 7252 children age ≥5 years with an underlying complex chronic condition undergoing spinal fusion between January 1, 2010 through December 31, 2014 in 41 children's hospitals...
March 2017: Pediatrics
https://www.readbyqxmd.com/read/28146296/nasal-intermittent-positive-pressure-ventilation-nippv-versus-nasal-continuous-positive-airway-pressure-ncpap-for-preterm-neonates-after-extubation
#16
REVIEW
Brigitte Lemyre, Peter G Davis, Antonio G De Paoli, Haresh Kirpalani
BACKGROUND: Previous randomised trials and meta-analyses have shown that nasal continuous positive airway pressure (NCPAP) is a useful method for providing respiratory support after extubation. However, this treatment sometimes 'fails' in infants, and they may require endotracheal re-intubation with its attendant risks and expense. Nasal intermittent positive pressure ventilation (NIPPV) can augment NCPAP by delivering ventilator breaths via nasal prongs. Older children and adults with chronic respiratory failure benefit from NIPPV, and the technique has been applied to neonates...
February 1, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28138234/respiratory-muscle-activity-and-patient-ventilator-asynchrony-during-different-settings-of-noninvasive-ventilation-in-stable-hypercapnic-copd-does-high-inspiratory-pressure-lead-to-respiratory-muscle-unloading
#17
Marieke L Duiverman, Anouk S Huberts, Leo A van Eykern, Gerrie Bladder, Peter J Wijkstra
INTRODUCTION: High-intensity noninvasive ventilation (NIV) has been shown to improve outcomes in stable chronic obstructive pulmonary disease patients. However, there is insufficient knowledge about whether with this more controlled ventilatory mode optimal respiratory muscle unloading is provided without an increase in patient-ventilator asynchrony (PVA). PATIENTS AND METHODS: Ten chronic obstructive pulmonary disease patients on home mechanical ventilation were included...
2017: International Journal of Chronic Obstructive Pulmonary Disease
https://www.readbyqxmd.com/read/28114678/revisiting-the-definition-of-bronchopulmonary-dysplasia-effect-of-changing-panoply-of-respiratory-support-for-preterm-neonates
#18
Tetsuya Isayama, Shoo K Lee, Junmin Yang, David Lee, Sibasis Daspal, Michael Dunn, Prakesh S Shah
Importance: Several definitions of bronchopulmonary dysplasia are clinically used; however, their validity remains uncertain considering ongoing changes in the panoply of respiratory support treatment strategies used within neonatal units. Objective: To identify the optimal definition of bronchopulmonary dysplasia that best predicts respiratory and neurodevelopmental outcomes in preterm infants. Design, Setting, and Participants: Retrospective cohort study at tertiary neonatal intensive care units...
March 1, 2017: JAMA Pediatrics
https://www.readbyqxmd.com/read/28114151/factors-determining-the-uptake-of-influenza-vaccination-among-children-with-chronic-conditions
#19
Janita Pak Chun Chau, Suzanne Hoi Shan Lo, Kai Chow Choi, Matthew Hoi Kin Chau, Danny Wah Kun Tong, Tany Kwong, David R Thompson
BACKGROUND: Studies report the influenza vaccination uptake rate among children with chronic conditions is alarmingly low. In Hong Kong, there has been no study examining parental decision making about influenza vaccination for children with chronic conditions, thereby limiting the knowledge base to inform the development of specific strategies to improve influenza vaccination rates. AIM: To identify factors determining the uptake of influenza vaccination among children with chronic conditions...
January 19, 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28102546/ataluren-and-similar-compounds-specific-therapies-for-premature-termination-codon-class-i-mutations-for-cystic-fibrosis
#20
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
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