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Child respiratory disease

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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/28640907/accelerometer-measured-levels-of-moderate-to-vigorous-intensity-physical-activity-and-sedentary-time-in-children-and-adolescents-with-chronic-disease-a-systematic-review-and-meta-analysis
#2
Rabha Elmesmari, John J Reilly, Anne Martin, James Y Paton
CONTEXT: Moderate-to-vigorous physical activity (MVPA) and sedentary time (ST) are important for child and adolescent health. OBJECTIVE: To examine habitual levels of accelerometer measured MVPA and ST in children and adolescents with chronic disease, and how these levels compare with healthy peers. METHODS: Data sources: An extensive search was carried out in Medline, Cochrane library, EMBASE, SPORTDiscus and CINAHL from 2000-2017. Study selection: Studies with accelerometer-measured MVPA and/or ST (at least 3 days and 6 hours/day to provide estimates of habitual levels) in children 0-19 years of age with chronic diseases but without co-morbidities that would present major impediments to physical activity...
2017: PloS One
https://www.readbyqxmd.com/read/28625122/a-ten-year-review-of-chronic-cor-pulmonale-secondary-to-respiratory-diseases-in-ghana
#3
Collins Oduro-Boatey, Della Adzosii
Chronic cor pulmonale is defined as right ventricular failure secondary to pulmonary hypertension. Our study reviewed all cases of chronic cor pulmonale secondary to respiratory diseases in a ten-year period (2004-20014) in the Department of Child Health, Korle-Bu Teaching Hospital, Ghana. Nine cases of chronic cor pulmonale were recorded during the period. The age range was 1-9 years (average age = 3 years). Obstructive sleep apnoea secondary to adenoid hypertrophy was the commonest cause of pulmonary hypertension...
January 1, 2017: Tropical Doctor
https://www.readbyqxmd.com/read/28619397/development-of-environmental-health-indicators-for-the-child-population-report-on-a-brazilian-experience
#4
Flavia Franchini de Moraes, Volney de Magalhaes Camara, Carmen Ildes R Froes Asmus
BACKGROUND: This report presents the Brazilian experience on the elaboration of a matrix of children's environmental health indicators to the Brazilian Health Surveillance System. This experience was part of a project with the financial support of the Ministry of Health of Brazil to develop appropriate indicators for identification, measuring, and monitoring of the environmental risk factors to the children's health. METHODS: The methodology adopted for the development of the matrix of indicators of children's environmental health to Brazil comprised 3 steps...
March 2017: Annals of Global Health
https://www.readbyqxmd.com/read/28605562/microorganisms-associated-with-pneumonia-in-children-5-years-of-age-in-developing-and-emerging-countries-the-gabriel-pneumonia-multicenter-prospective-case-control-study
#5
Thomas Bénet, Valentina Sánchez Picot, Mélina Messaoudi, Monidarin Chou, Tekchheng Eap, Jianwei Wang, Kunling Shen, Jean-William Pape, Vanessa Rouzier, Shally Awasthi, Nitin Pandey, Ashish Bavdekar, Sonali Sanghavi, Annick Robinson, Mala Rakoto-Andrianarivelo, Maryam Sylla, Souleymane Diallo, Pagbajabyn Nymadawa, Nymadawaagiin Naranbat, Graciela Russomando, Wilma Basualdo, Florence Komurian-Pradel, Hubert Endtz, Philippe Vanhems, Gláucia Paranhos-Baccalà
Background.: Pneumonia, the leading infectious cause of child mortality globally, mainly afflicts developing countries. This prospective observational study aimed to assess the microorganisms associated with pneumonia in children aged <5 years in developing and emerging countries. Methods.: A multicenter, case-control study by the GABRIEL (Global Approach to Biological Research, Infectious diseases and Epidemics in Low-income countries) network was conducted between 2010 and 2014 in Cambodia, China, Haiti, India (2 sites), Madagascar, Mali, Mongolia, and Paraguay...
June 12, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/28601985/poor-early-childhood-outcomes-attributable-to-maternal-depression-in-mexican-women
#6
Filipa de Castro, Jean Marie Place, Aremis Villalobos, Rosalba Rojas, Tonatiuh Barrientos, Edward A Frongillo
We aimed to estimate the population fraction of poor early child health and developmental outcomes attributable to maternal depressive symptoms (DS) contrasting it between low- and middle/high-income households. We used a nationally representative probabilistic sample of 4240 children younger than 5 years old and their mothers, derived from the Mexican National Health and Nutrition Survey Data (ENSANUT 2012). Complex survey design, sampling, and analytic weights were taken into account in analyses. DS was measured by CESD-7...
June 10, 2017: Archives of Women's Mental Health
https://www.readbyqxmd.com/read/28594145/use-of-antidepressant-medication-in-pregnancy-and-adverse-neonatal-outcomes-a-population-based-investigation
#7
Anna Cantarutti, Luca Merlino, Carlo Giaquinto, Giovanni Corrao
BACKGROUND: Untreated depression and antidepressant use during pregnancy may have negative consequences for births. There are still conflicting data on the potential harmful effects of prenatal antidepressant treatment on child health. OBJECTIVE: To investigate the relationship between the use of antidepressant medication during pregnancy and selected neonatal outcomes. METHODS: A population-based cohort study including 9825 deliveries exposed to an antidepressant between 9 months before last menstrual date through to delivery, from January 2005 to December 2010 in the Lombardy region of Italy, was conducted...
June 8, 2017: Pharmacoepidemiology and Drug Safety
https://www.readbyqxmd.com/read/28586590/diagnostic-dilemma-of-biotinidase-deficiency-case-of-a-child-from-pakistan
#8
Maria Shoaib, Ahmad Faraz, Syed Ahsanuddin Ahmed, Marium Jamil, Zobia Aijaz
Biotinidase deficiency is an autosomal recessive in born error of metabolism which is characterized by the lack of cleavage of biotin. This disease has been reported very rarely with the incidence found to be 1 per 60,089 and 1 per 112,271 of live births, respectively. This condition has profound effects on the neurological system, various neurocutaneous manifestations and metabolic derangements. We report a case of 3-year-old male child who presented in ER with severe respiratory distress for 1 day in a tertiary care set up...
October 2016: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/28580865/the-association-between-environmental-tobacco-smoke-exposure-and-childhood-respiratory-disease-a-review
#9
A Vanker, R P Gie, H J Zar
Childhood respiratory illness is a major cause of morbidity and mortality particularly in low and middle-income countries. Environmental tobacco smoke (ETS) exposure is a recognised risk factor for both acute and chronic respiratory illness. Areas covered: The aim of this paper was to review the epidemiology of ETS exposure and impact on respiratory health in children. We conducted a search of 3 electronic databases of publications on ETS and childhood respiratory illness from 1990-2015. Key findings were that up to 70% of children are exposed to ETS globally, but under-reporting may mask the true prevalence...
June 14, 2017: Expert Review of Respiratory Medicine
https://www.readbyqxmd.com/read/28565813/successful-treatment-of-diffuse-panbronchiolitis-in-a-child-from-western-china-a-case-report
#10
Na-Na Zhao, Hui Cao, Shi-Si Zhang, Guo-Qiang Cao
The present report describes a case of diffuse panbronchiolitis (DPB) in a child from Western China and the favorable outcome associated with early diagnosis. DPB is an uncommon presentation in pediatric patients. A 13-year-old Chinese boy was admitted to the respiratory outpatient department due to recurrent cough and progressive exertional dyspnea that had persisted for 1 year. An initial diagnosis of bronchial asthma was made, and the patient was prescribed inhaled fluticasone combined with salmeterol (50/250 µg, twice daily), and montelukast (4 mg daily)...
May 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28555180/risk-factors-for-neurocognitive-functioning-in-children-with-autosomal-recessive-polycystic-kidney-disease
#11
REVIEW
Stephen R Hooper
This mini review provides an overview of the issues and challenges inherent in autosomal recessive polycystic kidney disease (ARPKD), with a particular focus on the neurological factors and neurocognitive functioning of this population. ARPKD typically is discovered at the end of pregnancy or during the neonatal developmental period and occurs in approximately 1 in 20,000 live births. During the neonatal period, there is a relatively high risk of death, with many infants dying from respiratory failure. As the child ages, they experience progressive kidney disease and become increasingly vulnerable to liver disease, with many individuals eventually requiring dual organ transplants...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28553418/analysis-of-the-literature-on-chronic-cough-in-children
#12
REVIEW
Marcello Bergamini, Ahmad Kantar, Renato Cutrera, Italian Pediatric Cough Interest Group
Throughout childhood, various developmental phenomena influence the cough reflex. Among these are the modifications in the anatomy and functions of the respiratory tract and the central and peripheral nervous systems. Moreover, after birth, the immunological response undergoes progressive transformations with the acquisition of immune memory processes. These conditions make infections and airway abnormalities the overwhelming cause of chronic cough in children and infants. In children, chronic cough should be treated on the basis of etiology...
2017: Open Respiratory Medicine Journal
https://www.readbyqxmd.com/read/28545417/community-level-characteristics-and-environmental-factors-of-child-respiratory-illnesses-in-southern-arizona
#13
Nathan Lothrop, Khaleel Hussaini, Dean Billheimer, Paloma Beamer
BACKGROUND: Lower respiratory illnesses (LRIs) and asthma are common diseases in children <5 years of age. Few studies have investigated the relationships between multiple, home-based social and environmental risk factors and asthma and LRIs in children. Of those that have, none have focused exclusively on children <5 years of age, who are more physiologically vulnerable and spend more time at home compared to older children. Further, no studies have done so at the community level...
May 25, 2017: BMC Public Health
https://www.readbyqxmd.com/read/28534235/nasal-high-flow-in-management-of-children-with-status-asthmaticus-a-retrospective-observational-study
#14
Florent Baudin, Alexandra Buisson, Blandine Vanel, Bruno Massenavette, Robin Pouyau, Etienne Javouhey
BACKGROUND: Asthma is the most common obstructive airway disease in children and adults. Nasal high flow (NHF) is a recent device that is now used as a primary support for respiratory distress. Several studies have reported use of NHF as a respiratory support in status asthmaticus; however, there are no data to recommend such practice. We therefore conducted this preliminary study to evaluate NHF therapy for children with status asthmaticus admitted to our PICU in order to prepare a multicentre randomized controlled study...
December 2017: Annals of Intensive Care
https://www.readbyqxmd.com/read/28533980/mitochondrial-complex-i-deficiency-leads-to-the-retardation-of-early-embryonic-development-in-ndufs4-knockout-mice
#15
Mei Wang, Ya-Ping Huang, Han Wu, Ke Song, Cong Wan, A-Ni Chi, Ya-Mei Xiao, Xiao-Yang Zhao
BACKGROUND: The NDUFS4 gene encodes an 18-kD subunit of mitochondria complex I, and mutations in this gene lead to the development of a severe neurodegenerative disease called Leigh syndrome (LS) in humans. To investigate the disease phenotypes and molecular mechanisms of Leigh syndrome, the Ndufs4 knockout (KO) mouse has been widely used as a novel animal model. Because the homozygotes cannot survive beyond child-bearing age, whether Ndufs4 and mitochondrial complex I influence early embryonic development remains unknown...
2017: PeerJ
https://www.readbyqxmd.com/read/28523136/phenotypic-presentation-of-chronic-cough-in-children
#16
EDITORIAL
Ahmad Kantar
Chronic cough in children is increasingly defined as a cough that lasts more than four weeks. It is recognized as a different entity than cough in adults. As a result, the diagnostic approach and management of chronic cough in children are no longer extrapolated from adult guidelines. These differences are attributed to the various characteristics of the respiratory tract, immunological system and nervous system in children. Specific paediatric guidelines and algorithms for chronic cough are now widely applied...
April 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28521318/breastfeeding-childhood-asthma-and-allergic-disease
#17
Wendy H Oddy
The worldwide prevalence of childhood asthma has been increasing considerably, and the protection afforded by breastfeeding in its development has been the subject of controversy for more than 80 years. Previous systematic reviews have generally found a protective effect of breastfeeding on allergic outcomes, although many studies have methodological limitations. Although breastfeeding is protective against lower respiratory tract infection during infancy, such protection has not been demonstrated for asthma in all studies...
2017: Annals of Nutrition & Metabolism
https://www.readbyqxmd.com/read/28516132/life-threatening-hypercalcemia-during-prodrome-of-pneumocystis-jiroveci-pneumonia-in-an-immunocompetent-infant
#18
Judith Sebestyen VanSickle, Tarak Srivastava, Uri S Alon
Severe hypercalcemia in infants is usually attributed to genetic etiologies and less commonly to acquired ones. An 8-week-old girl presented with failure to thrive, mild respiratory distress, and life-threatening hypercalcemia (23.5 mg/dL). Serum 1,25(OH)2-vitamin D (1,25(OH)2-D) level was elevated and parathyroid hormone undetectable. Evaluation for genetic mutations and malignant etiologies of hypercalcemia was negative. Treatment with intravenous hydration, loop diuretic, and calcitonin failed to correct the hypercalcemia, which was subsequently controlled with bisphosphonate therapy...
2017: Global Pediatric Health
https://www.readbyqxmd.com/read/28506345/-infantile-hypophosphatasia-caused-by-a-novel-compound-heterozygous-mutation-a-case-report-and-pedigree-analysis
#19
Deng-Feng Li, Dan Lan, Jing-Zi Zhong, Roma Kajal Dewan, Yan-Shu Xie, Ying Yang
This article reported the clinical features of one child with infantile hypophosphatasia (HPP) and his pedigree information. The proband was a 5-month-old boy with multiple skeletal dysplasia (koilosternia, bending deformity of both radii, and knock-knee deformity of both knees), feeding difficulty, reduction in body weight, developmental delay, recurrent pneumonia and respiratory failure, and a significant reduction in blood alkaline phosphatase. Among his parents, sister, uncle, and aunt (other family members did not cooperate with us in the examination), his parents and aunt had a slight reduction in alkaline phosphatase and his aunt had scoliosis; there were no other clinical phenotypes or abnormal laboratory testing results...
May 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28471437/the-clinical-spectrum-and-natural-history-of-early-onset-diseases-due-to-dna-polymerase-gamma-mutations
#20
Omar Hikmat, Charalampos Tzoulis, Wui K Chong, Latifa Chentouf, Claus Klingenberg, Carl Fratter, Lucinda J Carr, Prab Prabhakar, Nandhini Kumaraguru, Paul Gissen, J Helen Cross, Thomas S Jacques, Jan-Willem Taanman, Laurence A Bindoff, Shamima Rahman
PurposeMutations in POLG, the most common single-gene cause of inherited mitochondrial disease, are diagnostically challenging owing to clinical heterogeneity and overlap between syndromes. We aimed to improve the clinical recognition of POLG-related disorders in the pediatric population.MethodsWe performed a multinational, phenotype: genotype study using patients from three centers, two Norwegian and one from the United Kingdom. Patients with age at onset <12 years and confirmed pathogenic biallelic POLG mutations were considered eligible...
May 4, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
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