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American Journal of Physiology. Lung... Nov 2021Down syndrome (DS) is one of the most prevalent chromosomal abnormalities worldwide, affecting 1 in 700 live births. Although multiple organ systems are affected by the... (Review)
Review
Down syndrome (DS) is one of the most prevalent chromosomal abnormalities worldwide, affecting 1 in 700 live births. Although multiple organ systems are affected by the chromosomal defects, respiratory failure and lung disease are the leading causes of morbidity and mortality observed in DS. Manifestations of DS in the respiratory system encompass the entire lung starting from the nasopharynx to the trachea/upper airways to the lower airways and alveolar spaces, as well as vascular and lymphatic defects. Most of our knowledge on respiratory illness in persons with DS arises from pediatric studies; however, many of these disorders present early in infancy, supporting developmental mechanisms. In this review, we will focus on the different lung phenotypes in DS, as well as the genetic and molecular pathways that may be contributing to these complications during development.
Topics: Child; Disease Progression; Down Syndrome; Humans; Lung; Lung Diseases; Phenotype
PubMed: 34469245
DOI: 10.1152/ajplung.00434.2020 -
The European Respiratory Journal Sep 2019Tracheomalacia and tracheobronchomalacia may be primary abnormalities of the large airways or associated with a wide variety of congenital and acquired conditions. The...
Tracheomalacia and tracheobronchomalacia may be primary abnormalities of the large airways or associated with a wide variety of congenital and acquired conditions. The evidence on diagnosis, classification and management is scant. There is no universally accepted classification of severity. Clinical presentation includes early-onset stridor or fixed wheeze, recurrent infections, brassy cough and even near-death attacks, depending on the site and severity of the lesion. Diagnosis is usually made by flexible bronchoscopy in a free-breathing child but may also be shown by other dynamic imaging techniques such as low-contrast volume bronchography, computed tomography or magnetic resonance imaging. Lung function testing can provide supportive evidence but is not diagnostic. Management may be medical or surgical, depending on the nature and severity of the lesions, but the evidence base for any therapy is limited. While medical options that include bronchodilators, anti-muscarinic agents, mucolytics and antibiotics (as well as treatment of comorbidities and associated conditions) are used, there is currently little evidence for benefit. Chest physiotherapy is commonly prescribed, but the evidence base is poor. When symptoms are severe, surgical options include aortopexy or posterior tracheopexy, tracheal resection of short affected segments, internal stents and external airway splinting. If respiratory support is needed, continuous positive airway pressure is the most commonly used modality either a face mask or tracheostomy. Parents of children with tracheobronchomalacia report diagnostic delays and anxieties about how to manage their child's condition, and want more information. There is a need for more research to establish an evidence base for malacia. This European Respiratory Society statement provides a review of the current literature to inform future study.
Topics: Bronchomalacia; Bronchoscopy; Child; Europe; Humans; Magnetic Resonance Imaging; Multidetector Computed Tomography; Physical Therapy Modalities; Pulmonary Medicine; Respiratory Function Tests; Respiratory Sounds; Societies, Medical; Tracheomalacia
PubMed: 31320455
DOI: 10.1183/13993003.00382-2019 -
Children (Basel, Switzerland) Jun 2022Neonatal airway abnormalities are commonly encountered by the neonatologist, general pediatrician, maternal fetal medicine specialist, and otolaryngologist. This review... (Review)
Review
Neonatal airway abnormalities are commonly encountered by the neonatologist, general pediatrician, maternal fetal medicine specialist, and otolaryngologist. This review article discusses common and rare anomalies that may be encountered, along with discussion of embryology, workup, and treatment. This article aims to provide a broad overview of neonatal airway anomalies to arm those caring for these children with a broad differential diagnosis and basic knowledge of how to manage basic and complex presentations.
PubMed: 35883928
DOI: 10.3390/children9070944