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https://www.readbyqxmd.com/read/27903293/personalized-medicine-approach-confirms-a-milder-case-of-abat-deficiency
#1
A Besse, A K Petersen, J V Hunter, V Appadurai, S R Lalani, P E Bonnen
ABAT deficiency (OMIM 613163) is a rare inborn error of metabolism caused by recessive variants in the gene 4-aminobutyric acid transaminase (ABAT), which is responsible for both the catalysis of GABA and maintenance of nucleoside pools in the mitochondria. To date, only a few patients have been reported worldwide. Their clinical presentation has been remarkably consistent with primary features of severe psychomotor retardation, encephalopathy, hypotonia, and infantile-onset refractory epilepsy. We report a new case of ABAT deficiency that marks an important departure from previous clinical findings...
December 1, 2016: Molecular Brain
https://www.readbyqxmd.com/read/27902668/pneumatosis-intestinalis-due-to-child-abuse
#2
Stephanie Anne Deutsch, Cindy W Christian
Pneumatosis intestinalis (PI) and the presence of portal venous gas (PVG) are commonly considered pathognomonic for necrotizing enterocolitis in the neonatal period; however, these 2 radiographic findings have been documented in all age groups in a variety of clinical settings and medical conditions including respiratory, cardiac, rheumatologic, gastrointestinal disorders, and traumatic injury. In children, intramural dissection of intestinal gas in the absence of clinical symptoms suggestive of necrotizing enterocolitis should raise concern for a traumatic etiology, including injuries sustained from child physical abuse...
November 29, 2016: Pediatric Emergency Care
https://www.readbyqxmd.com/read/27898422/national-evidence-in-israel-supporting-reevaluation-of-respiratory-syncytial-virus-prophylactic-guidelines
#3
Itai Gross, Yael Siedner-Weintraub, Wiessam Abu Ahmad, Benjamin Bar-Oz, Smadar Eventov-Friedman
BACKGROUND: The American Academy of Pediatrics (AAP) recently narrowed the indications for respiratory syncytial virus (RSV) prophylaxis, while in Israel the guidelines have not changed. OBJECTIVE: To compare the prevalence and severity of RSV infection among preterm infants born earlier than 340/7 weeks of gestation (PI), late preterm infants born at 340/7-366/7 weeks (LPTI), and term infants born after 370/7 weeks of gestation (TI) and to determine whether the results support a change in local policy...
November 30, 2016: Neonatology
https://www.readbyqxmd.com/read/27892444/mortality-patterns-among-hospital-deaths
#4
R K Karki
Background Death occurring in hospital is medically certified by attending physicians with cause of death. In developing countries such as Nepal, limited resources are available related to the pattern of deaths that occur in hospitals, so that the health priorities can be selected wisely. Objective The objective of this study was to determine the pattern, frequency and causes of inpatient mortality in hospital. Method This was a retrospective study of all deaths occurred at the Dhulikhel Hospital, Kathmandu University Hospital, Dhulikhel from 1st January 2012 to 31st December 2013...
January 2016: Kathmandu University Medical Journal (KUMJ)
https://www.readbyqxmd.com/read/27890390/world-association-of-sleep-medicine-wasm-2016-standards-for-recording-and-scoring-leg-movements-in-polysomnograms-developed-by-a-joint-task-force-from-the-international-and-the-european-restless-legs-syndrome-study-groups-irlssg-and-eurlssg
#5
R Ferri, S Fulda, R P Allen, M Zucconi, O Bruni, S Chokroverty, L Ferini-Strambi, B Frauscher, D Garcia-Borreguero, M Hirshkowitz, B Högl, Y Inoue, A Jahangir, M Manconi, C L Marcus, D L Picchietti, G Plazzi, J W Winkelman, R S Zak
This report presents the results of the work by a joint task force of the International and European Restless Legs Syndrome Study Groups and World Association of Sleep Medicine that revised and updated the current standards for recording and scoring leg movements (LM) in polysomnographic recordings (PSG). First, the background of the decisions made and the explanations of the new rules are reported and then specific standard rules are presented for recording, detecting, scoring and reporting LM activity in PSG...
November 7, 2016: Sleep Medicine
https://www.readbyqxmd.com/read/27890061/preoperative-screening-for-sleep-disordered-breathing-in-children-a-systematic-literature-review
#6
Erin E Bauer, Rebecca Lee, Yasmine N Campbell
Clinicians frequently underestimate or do not assess sleep-disordered breathing (SDB) in children in ambulatory surgical centers. Identifying the disorder and obtaining information relevant to anesthesia management can be assisted by the use of a standard questionnaire during preoperative assessment. We wanted to determine whether a preoperative screening tool increases clinician awareness of SDB in children and leads to a decrease in perioperative respiratory adverse events. We reviewed 21 articles to identify reliable screening tools for pediatric SDB in ambulatory surgical centers and selected six articles for the review...
December 2016: AORN Journal
https://www.readbyqxmd.com/read/27889372/-non-invasive-ventilation-in-children-do-we-need-more-evidence
#7
G Mortamet, G Emeriaud, P Jouvet, B Fauroux, S Essouri
Respiratory failure is the leading cause of hospital admissions in the pediatric intensive care unit (PICU) and is associated with significant morbidity and mortality. Mechanical ventilation, preferentially delivered by a non-invasive route (NIV), is currently the first-line treatment for respiratory failure since it is associated with a reduction in the intubation rate. This ventilatory support is increasingly used in the PICU, but its wider use contrasts with the paucity of studies in this field. This review aims to describe the main indications of NIV in acute settings: (i) bronchiolitis; (ii) postextubation respiratory failure; (iii) acute respiratory distress syndrome; (iv) pneumonia; (v) status asthmaticus; (vi) acute chest syndrome; (vii) left heart failure; (viii) exacerbation of chronic respiratory failure; (ix) upper airway obstruction and (x) end-of-life care...
November 23, 2016: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/27889321/rapid-antigen-detection-test-for-respiratory-syncytial-virus-diagnosis-as-a-diagnostic-tool
#8
Flávio da Silva Mesquita, Danielle Bruna Leal de Oliveira, Daniela Crema, Célia Miranda Nunes Pinez, Thaís Cristina Colmanetti, Luciano Matsumia Thomazelli, Alfredo Elias Gilio, Sandra Elisabeth Vieira, Marina Baquião Martinez, Viviane Fongaro Botosso, Edison Luiz Durigon
OBJECTIVE: The aim of this study was to evaluate the QuickVue(®) RSV Test Kit (QUIDEL Corp, CA, USA) as a screening tool for respiratory syncytial virus in children with acute respiratory disease in comparison with the indirect immunofluorescence assay as gold standard. In Brazil, rapid antigen detection tests for respiratory syncytial virus are not routinely utilized as a diagnostic tool, except for the diagnosis of dengue and influenza. METHODS: The authors retrospectively analyzed 486 nasopharyngeal aspirate samples from children under age 5 with acute respiratory infection, between December 2013 and August 2014, the samples were analyzed by IFI and QuickVue(®) RSV Test kit...
November 24, 2016: Jornal de Pediatria
https://www.readbyqxmd.com/read/27887621/pediatric-emergency-department-visits-and-ambient-air-pollution-in-the-u-s-state-of-georgia-a-case-crossover-study
#9
Qingyang Xiao, Yang Liu, James A Mulholland, Armistead G Russell, Lyndsey A Darrow, Paige E Tolbert, Matthew J Strickland
BACKGROUND: Estimating the health effects of ambient air pollutant mixtures is necessary to understand the risk of real-life air pollution exposures. METHODS: Pediatric Emergency Department (ED) visit records for asthma or wheeze (n = 148,256), bronchitis (n = 84,597), pneumonia (n = 90,063), otitis media (n = 422,268) and upper respiratory tract infection (URI) (n = 744,942) were obtained from Georgia hospitals during 2002-2008. Spatially-contiguous daily concentrations of 11 ambient air pollutants were estimated from CMAQ model simulations that were fused with ground-based measurements...
November 25, 2016: Environmental Health: a Global Access Science Source
https://www.readbyqxmd.com/read/27886037/hospital-acquired-infection-in-public-hospital-buildings-in-the-philippines-is-the-type-of-ventilation-increasing-the-risk
#10
Godofreda Ruiz Vergeire-Dalmacion, Jill Rafols Itable, Emmanuel Saporna Baja
INTRODUCTION: Hospital-acquired infections (HAIs) are associated with increased morbidity and mortality, especially in developing countries. However, limited information is available about the risk of HAIs in naturally ventilated wards (NVWs) and mechanically ventilated intensive care units (MVICUs) of public hospitals in the Philippines. We aimed to assess the association between HAIs and type of ventilation in an urban tertiary care hospital in the Philippines. METHODOLOGY: A cross-sectional point-prevalence survey of infections was done in NVWs and MVICUs of a tertiary care hospital in December 2013...
November 24, 2016: Journal of Infection in Developing Countries
https://www.readbyqxmd.com/read/27882804/a-comparison-of-high-frequency-chest-wall-oscillation-and-intrapulmonary-percussive-ventilation-for-airway-clearance-in-pediatric-patients-with-tracheostomy
#11
Aneela Bidiwala, Linda Volpe, Claudia Halaby, Melissa Fazzari, Christina Valsamis, Melodi Pirzada
OBJECTIVES: The aim of this study was to compare two modes of airway clearance, the intrapulmonary percussive ventilation system (IPV) to high frequency chest wall oscillation system (HFCWO) in medically complex pediatric patients with tracheostomy requiring long term care. METHODS: This was a single center, retrospective study comparing the number of respiratory illnesses, lower respiratory tract infections (LRTI), utilization of bronchodilator and systemic steroids, and respiratory illnesses requiring acute care hospitalizations...
November 24, 2016: Postgraduate Medicine
https://www.readbyqxmd.com/read/27882142/multicenter-study-on-the-prognosis-associated-with-respiratory-support-for-children-with-acute-hypoxic-respiratory-failure
#12
Fei Guo, Lin Hao, Qing Zhen, Min Diao, Chonglin Zhang
The objective of the present study was to explore the factors influencing the outcomes related to respiratory support of children with acute hypoxic respiratory failure (AHRF) in 30 hospitals. This was a non-controlled prospective and collaborative multicenter clinical study conducted from June, 2010 to May, 2011 (each hospital for 12 consecutive months). Children aged from 29 days to 6 years and who met the diagnostic standards of AHRF were enrolled as subjects for the study. After patients were enrolled, general parameters including disease diagnosis, treatment and prognosis were recorded...
November 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/27879381/pediatric-prolonged-mechanical-ventilation-considerations-for-definitional-criteria
#13
REVIEW
Michaël Sauthier, Louise Rose, Philippe Jouvet
A 2005 consensus conference led by the National Association for Medical Direction of Respiratory Care (NAMDRC) defined prolonged mechanical ventilation (PMV) for adults as invasive and/or noninvasive mechanical ventilation (NIV) for ≥21 consecutive days for ≥6 h/d. In children, no such consensus definition exists. This results in substantial variability in definitional criteria, making study of the impact and outcomes of PMV across and within settings problematic. The objective of this work was to identify how PMV for children and neonates is described in the literature and to outline pediatric/neonatal considerations related to PMV, with the goal of proposing a pediatric/neonatal adaptation to the NAMDRC definition...
November 22, 2016: Respiratory Care
https://www.readbyqxmd.com/read/27877098/accidental-epidural-injection-of-rocuronium-in-a-pediatric-patient-a-case-report-and-literature-review
#14
Ting-Ting Wu, David S Hoff
Accidental administration of non-epidural drugs into the epidural or subarachnoid spaces may be associated with unexpected pain, morbidity, adverse effects, increased level of care, prolonged hospital stay, and mortality. We describe a 12-month-old admitted for secondary-stage hypospadias reconstruction. General anesthesia was induced with sevofiurane and a peripheral catheter was placed. Instead of ropivacaine, rocuronium (80 mg; 6.3 mg/kg) was injected into the epidural space by the caudal route. Surgery was uneventful and was completed 160 minutes after rocuronium was given...
September 2016: Journal of Pediatric Pharmacology and Therapeutics: JPPT: the Official Journal of PPAG
https://www.readbyqxmd.com/read/27876089/rapid-onset-obesity-hypoventilation-hypothalamic-dysfunction-autonomic-dysregulation-and-neuroendocrine-tumor-syndrome-with-a-homogenous-enlargement-of-the-pituitary-gland-a-case-report
#15
Lama Aljabban, Lina Kassab, Nour Alhuda Bakoura, Mohammad Fayez Alsalka, Ismaeil Maksoud
BACKGROUND: Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation syndrome is a rare pediatric disorder with a variable sequence of clinical presentations, undefined etiology, and high risk of mortality. Our patient presented an unusual course of the disease accompanied by a homogenous mild enlargement of her pituitary gland with an intact pituitary-endocrine axis which, to the best of our knowledge, represents a new finding in rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation syndrome...
November 22, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27875593/enterovirus-d68-in-hospitalized-children-sequence-variation-viral-loads-and-clinical-outcomes
#16
Katherine Moyer, Huanyu Wang, Douglas Salamon, Amy Leber, Asuncion Mejias
BACKGROUND: An outbreak of enterovirus D68 (EV-D68) caused severe respiratory illness in 2014. The disease spectrum of EV-D68 infections in children with underlying medical conditions other than asthma, the role of EV-D68 loads on clinical illness, and the variation of EV-D68 strains within the same institution over time have not been described. We sought to define the association between EV-D68 loads and sequence variation, and the clinical characteristic in hospitalized children at our institution from 2011 to 2014...
2016: PloS One
https://www.readbyqxmd.com/read/27875026/disseminated-bcg-pneumonitis-revealing-severe-combined-immunodeficiencyxs-in-charge-syndrome
#17
Hyung Young Kim, Yoo-Mi Kim, Hee Ju Park
CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, and ear anomalies/deafness) syndrome is a rare genetic disorder caused by CHD7 mutation and is related to immunodeficiency. A 6-month-old girl with right lung agenesis, congenital heart defects, and ear anomalies developed repeated and serious respiratory infection for a short period. She was clinically diagnosed with typical CHARGE syndrome with severe combined immunodeficiency (T-, B+, NK-); however, CHD7 mutation was not detected...
November 22, 2016: Pediatric Pulmonology
https://www.readbyqxmd.com/read/27875025/adherence-and-barriers-to-hyperinsufflation-in-children-with-congenital-muscular-dystrophy
#18
John E Pascoe, Hemant Sawnani, Oscar H Mayer, Keith McConnell, Joseph M McDonough, Cynthia White, Anne M Rutkowski, Raouf S Amin, Avani C Modi
BACKGROUND: Congenital muscular dystrophy (CMD) is a rare, inherited neuromuscular disease characterized by progressive muscle weakness, thoracic insufficiency, and ultimately respiratory failure. Adherence to respiratory therapies in children with neuromuscular disorders is unknown. This study examined the multimodal assessment of adherence and barriers to 15 min, twice daily hyperinsufflation in children with CMD. Adherence was hypothesized to be greater than 50% and discomfort, embarrassment, and difficulty finding time were hypothesized to be barriers...
November 22, 2016: Pediatric Pulmonology
https://www.readbyqxmd.com/read/27872828/middle-east-respiratory-syndrome-coronavirus-disease-is-rare-in-children-an-update-from-saudi-arabia
#19
Jaffar A Al-Tawfiq, Rana F Kattan, Ziad A Memish
AIM: To summarize the reported Middle East respiratory syndrome-coronavirus (MERS-CoV) cases, the associated clinical presentations and the outcomes. METHODS: We searched the Saudi Ministry of Health website, the World Health Organization website, and the Flutracker website. We also searched MEDLINE and PubMed for the keywords: Middle East respiratory syndrome-coronavirus, MERS-CoV in combination with pediatric, children, childhood, infancy and pregnancy from the initial discovery of the virus in 2012 to 2016...
November 8, 2016: World Journal of Clinical Pediatrics
https://www.readbyqxmd.com/read/27872356/middle-east-respiratory-syndrome-coronavirus-and-children-what-pediatric-health-care-professionals-need-to-know
#20
Michael Bartenfeld, Stephanie Griese, Timothy Uyeki, Susan I Gerber, Georgina Peacock
No abstract text is available yet for this article.
November 20, 2016: Clinical Pediatrics
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