Search Results - "MIRRA, VIRGINIA"
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Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies
Published in Frontiers in pediatrics (09-06-2017)“…Primary ciliary dyskinesia (PCD) is an orphan disease (MIM 244400), autosomal recessive inherited, characterized by motile ciliary dysfunction. The estimated…”
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DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes
Published in American journal of respiratory cell and molecular biology (01-08-2016)“…Primary ciliary dyskinesia (PCD) is a recessively inherited disease that leads to chronic respiratory disorders owing to impaired mucociliary clearance…”
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Pediatric severe asthma: a case series report and perspectives on anti-IgE treatment
Published in BMC pediatrics (21-02-2018)“…The primary goal of asthma management is to achieve disease control for reducing the risk of future exacerbations and progressive loss of lung function. Asthma…”
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NMR Profiling of Exhaled Breath Condensate Defines Different Metabolic Phenotypes of Non-Cystic Fibrosis Bronchiectasis
Published in International journal of molecular sciences (14-11-2020)“…Nuclear-magnetic-resonance (NMR) profiling of exhaled breath condensate (EBC) provides insights into the pathophysiology of bronchiectasis by identifying…”
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Longitudinal Follow-up of Chronic Pulmonary Manifestations in Esophageal Atresia: A Clinical Algorithm and Review of the Literature
Published in Pediatrics and neonatology (01-02-2017)“…Abstract In the last decades improved surgical techniques and better neonatal supportive care have resulted in reduced mortality of patients with esophageal…”
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Asthma: Differential Diagnosis and Comorbidities
Published in Frontiers in pediatrics (03-10-2018)“…Childhood asthma remains a multifactorial disease with heterogeneous clinical phenotype and complex genetic inheritance. The primary aim of asthma management…”
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Advances in paediatrics in 2019: current practices and challenges in allergy, endocrinology, gastroenterology, public health, neonatology, nutrition, nephrology, neurology, respiratory diseases and rheumatic diseases
Published in Italian journal of pediatrics (29-06-2020)“…We highlight the main developments that have been published during the first semester of the last year in the Italian Journal of Pediatrics. We have carefully…”
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Long-term Assessment of Quality of Life in Primary Ciliary Dyskinesia
Published in Chest (01-12-2014)Get full text
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Respiratory manifestations in patients with inherited metabolic diseases
Published in European respiratory review (01-12-2013)“…Growing evidence indicates that inherited metabolic diseases are increasingly being recognised. Life expectancy for many patients is progressively improving…”
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Editorial: Chronic Suppurative Lung Disease and Bronchiectasis in Children and Adolescents
Published in Frontiers in pediatrics (05-09-2017)Get full text
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Hyper IgM syndrome presenting as chronic suppurative lung disease
Published in Italian journal of pediatrics (19-09-2012)“…The Hyper-immunoglobulin M syndromes (HIGM) are a heterogeneous group of genetic disorders resulting in defects of immunoglobulin class switch recombination…”
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Sleep disordered breathing and airway disease in primary ciliary dyskinesia
Published in Respirology (Carlton, Vic.) (01-05-2014)“…Background and objective Sleep‐disordered breathing (SDB) may develop in primary ciliary dyskinesia (PCD), leading to these diseases worsening one another…”
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Long-term Assessment of Quality of Life in Primary Ciliary Dyskinesia: Time for New Tools?
Published in Chest (01-12-2014)Get full text
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Magnetic resonance imaging is an accurate and reliable method to evaluate non-cystic fibrosis paediatric lung disease
Published in Respirology (Carlton, Vic.) (01-01-2012)“…ABSTRACT Background and objective: Chest MRI is increasingly used to assess pulmonary diseases, but its utility compared with high‐resolution computed…”
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Cardiopulmonary assessment in primary ciliary dyskinesia
Published in European journal of clinical investigation (01-06-2012)“…Eur J Clin Invest 2012; 42 (6): 617–622 Background Primary ciliary dyskinesia (PCD) is a rare, usually autosomal recessive disorder of ciliary dysfunction…”
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What drives prescribing of asthma medication to preschool wheezing children? A primary care study
Published in Pediatric pulmonology (01-12-2013)“…There is limited information on which data primary care pediatricians (PCPs) use to decide whether to prescribe or not asthma maintenance treatment, and what…”
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Progress in pediatrics in 2015: choices in allergy, endocrinology, gastroenterology, genetics, haematology, infectious diseases, neonatology, nephrology, neurology, nutrition, oncology and pulmonology
Published in Italian journal of pediatrics (27-08-2016)“…This review focuses key advances in different pediatric fields that were published in Italian Journal of Pediatrics and in international journals in 2015…”
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Hypovitaminosis D: a novel finding in primary ciliary dyskinesia
Published in Italian journal of pediatrics (22-02-2015)“…A relationship between low levels of serum vitamin D and respiratory infections has been established. No study has examined the frequency and clinical…”
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