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Ginekologia Polska 2017Congenital diaphragmatic hernia (CDH) is a developmental discontinuity of the diaphragm. It allows abdominal viscera to herniate into the chest and leads to lung... (Review)
Review
Congenital diaphragmatic hernia (CDH) is a developmental discontinuity of the diaphragm. It allows abdominal viscera to herniate into the chest and leads to lung hypoplasia. Congenital diaphragmatic hernia is one of the most severe birth defects, with extremely high neonatal mortality. This paper presents a review of the available literature on prenatal diagnosis, management and treatment options for CDH. In selected cases, a prenatal procedure to improve neonatal survival is possible. The authors of this manuscript believe their work might contribute to a better understanding of congenital diaphragmatic hernia and patient selection for the FETO (fetal endoscopic tracheal occlusion) surgery or expectant management.
Topics: Abnormalities, Multiple; Disease Management; Female; Fetal Therapies; Fetoscopy; Fetus; Hernias, Diaphragmatic, Congenital; Humans; Infant, Newborn; Pregnancy; Trachea; Ultrasonography, Prenatal
PubMed: 28157247
DOI: 10.5603/GP.a2017.0005 -
American Journal of Medical Genetics.... Dec 2018VACTERL association is a condition involving the presence of multiple congenital anomalies. The condition was first described more than four decades ago, and is not... (Review)
Review
VACTERL association is a condition involving the presence of multiple congenital anomalies. The condition was first described more than four decades ago, and is not extremely rare. However, relatively little is understood about the causes and underlying biology of the condition as a whole. There are many reasons for this, but there is increasing recognition that VACTERL is extremely clinically as well as etiologically heterogeneous, and this heterogeneity--as well as other hypothesized factors--have caused challenges to identifying the causes for a substantial proportion of patients. Current knowledge about the causes of this condition (or group of conditions) are described, followed by a discussion of possibilities that may reveal more answers for patients as well as researchers and clinicians who work related to this disorder.
Topics: Abnormalities, Multiple; Anal Canal; Esophagus; Heart Defects, Congenital; Humans; Kidney; Limb Deformities, Congenital; Spine; Trachea
PubMed: 30580478
DOI: 10.1002/ajmg.c.31664 -
Seminars in Pediatric Surgery Jun 2016Tracheomalacia (TM) is defined as an increased collapsibility of the trachea due to structural anomalies of the tracheal cartilage and/or posterior membrane.... (Review)
Review
Tracheomalacia (TM) is defined as an increased collapsibility of the trachea due to structural anomalies of the tracheal cartilage and/or posterior membrane. Tracheomalacia has a wide range of etiologies but is most commonly present in children born with esophageal atresia and tracheal esophageal fistula. Clinical symptoms can range from minor expiratory stridor with typical barking cough to severe respiratory distress episodes to acute life-threatening events (ALTE). Although the majority of children have mild-to-moderate symptoms and will not need surgical intervention, some will need life-changing surgical treatment. This article examines the published pediatric literature on TM, discusses the details of clinical presentation, evaluation, diagnosis, and a variety of treatments.
Topics: Aorta; Child; Combined Modality Therapy; Endoscopy; Humans; Sternotomy; Tomography, X-Ray Computed; Trachea; Tracheomalacia
PubMed: 27301602
DOI: 10.1053/j.sempedsurg.2016.02.008 -
Pediatric Surgery International Jul 2018Congenital malformations of the trachea include a variety of conditions that cause respiratory distress in neonates and infants. A number of anomalies are self-limiting... (Review)
Review
Congenital malformations of the trachea include a variety of conditions that cause respiratory distress in neonates and infants. A number of anomalies are self-limiting while others are life-threatening and require immediate therapy. The prevalence of congenital airway malformations has been estimated to range between 0.2 and 1 in 10,000 live births. The most frequent congenital tracheal malformations are: tracheomalacia, congenital tracheal stenosis, laryngotracheal cleft and tracheal agenesis. The management of congenital tracheal malformations is complex and requires an individualized approach delivered by a multidiscipilinary team within centralized units with the necessary expertise.
Topics: Constriction, Pathologic; Digestive System Abnormalities; Esophagus; Humans; Larynx; Respiratory System Abnormalities; Trachea; Tracheal Diseases; Tracheal Stenosis; Tracheomalacia
PubMed: 29846792
DOI: 10.1007/s00383-018-4291-8 -
NeoReviews Sep 2022Respiratory distress in the neonate is one of the most common reasons for referral to a tertiary NICU, accounting for more than 20% of admissions. (1) The cause of... (Review)
Review
Respiratory distress in the neonate is one of the most common reasons for referral to a tertiary NICU, accounting for more than 20% of admissions. (1) The cause of respiratory distress can range from parenchymal lung disease to anomalies of any portion of the neonatal airway including the nose, pharynx, larynx, trachea, or bronchi. This review will focus on airway anomalies at or immediately below the level of the larynx. Although rare, those with such congenital or acquired laryngotracheal anomalies often require urgent evaluation and surgical intervention. This review describes 1) the pathophysiology associated with congenital and acquired laryngotracheal deformities in the neonate, 2) the clinical presentation and diagnostic evaluation of these anomalies, and 3) the current medical and surgical strategies available in the NICU and after discharge.
Topics: Bronchi; Humans; Infant, Newborn; Infant, Newborn, Diseases; Larynx; Respiratory Distress Syndrome; Trachea
PubMed: 36047759
DOI: 10.1542/neo.23-9-e613 -
International Journal of Pediatric... Oct 2017Tracheal atresia (TA) is a rare congenital condition that typically requires an unexpected and emergent resuscitation in the delivery room. The mortality rate associated... (Review)
Review
OBJECTIVES
Tracheal atresia (TA) is a rare congenital condition that typically requires an unexpected and emergent resuscitation in the delivery room. The mortality rate associated is very high, with only a few long-term survival cases reported. We describe the findings of a systematic review on the clinical presentation and airway management of TA.
METHODS
Using the keywords "tracheal atresia", "tracheal agenesis" and "tracheal hypoplasia" a search through Embase and Pubmed databases was performed following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) protocol. Articles published from 1950 to 2015 in English, French, Italian, Portuguese and Spanish were included. Exclusion criteria were cases of stillborn, and unclear diagnosis or outcome.
RESULTS
149 cases of TA were identified after reviewing 1125 initial references. There was a male preponderance (65%), and associated malformations were described in 94.2% of patients. Prenatal ultrasound was abnormal in 56.3% of cases, with polyhydramnios being the most common finding. The most frequent type of TA was Faro Type C. 94 (41.3%) patients did not survive beyond the first 24 h of life. Only 13 (8.4%) patients survived more than three months of life, after undergoing a variety of surgical approaches.
CONCLUSION
This review, which to our knowledge is the largest one to date, confirms that TA is a rare malformation, occurs more frequently in males, and has a very high mortality rate. Depending on the presence and type of concomitant malformation, as well of the length of the remaining trachea, different surgical management options are described.
Topics: Airway Management; Constriction, Pathologic; Female; Humans; Infant, Newborn; Male; Pregnancy; Survival Rate; Trachea
PubMed: 28964311
DOI: 10.1016/j.ijporl.2017.07.028 -
Seminars in Pediatric Surgery Jun 2016Congenital tracheobronchial stenosis is a rare disease characterized by complete tracheal rings that can affect variable lengths of the tracheobronchial tree. It causes... (Review)
Review
Congenital tracheobronchial stenosis is a rare disease characterized by complete tracheal rings that can affect variable lengths of the tracheobronchial tree. It causes high levels of morbidity and mortality both due to the stenosis itself and to the high incidence of other associated congenital malformations. Successful management of this complex condition requires a highly individualized approach delivered by an experienced multidisciplinary team, which is best delivered within centralized units with the necessary diverse expertise. In such settings, surgical correction by slide tracheoplasty has become increasingly successful over the past 2 decades such that long-term survival now exceeds 88%, with normalization of quality of life scores for patients with non-syndrome-associated congenital tracheal stenosis. Careful assessment and planning of treatment strategies is of paramount importance for both successful management and the provision of patients and carers with accurate and realistic treatment counseling.
Topics: Bronchi; Bronchial Diseases; Bronchoscopy; Constriction, Pathologic; Echocardiography; Humans; Plastic Surgery Procedures; Tomography, Optical Coherence; Tomography, X-Ray Computed; Trachea; Tracheal Stenosis; Treatment Outcome
PubMed: 27301600
DOI: 10.1053/j.sempedsurg.2016.02.007 -
Pediatric Surgery International Apr 2017Pediatric airway surgery is a challenging field in pediatric surgery. Laryngotracheal stenosis has a variety of congenital and acquired conditions that require precise... (Review)
Review
Pediatric airway surgery is a challenging field in pediatric surgery. Laryngotracheal stenosis has a variety of congenital and acquired conditions that require precise assessment and tailored treatment for each individual patient. About 90% of acquired conditions are represented by subglottic stenosis (SGS) resulting as a complication of tracheal intubation. Congenital tracheal stenosis (CTS) is a rare and life-threatening malformation, usually associated with complete tracheal rings along a variable length of the trachea. Tracheomalacia (TM) is a process characterized by flaccidity of the supporting tracheal cartilage, widening of the posterior membranous wall, and reduced anterior-posterior airway caliber. The clinical presentation can vary from almost asymptomatic patients to near fatal airway obstruction. There is considerable variation in both the morphologic subtypes and the prognosis of pediatric airway. The patients are divided into three clinical groups (mild, moderate, and severe). A further division was proposed according to the presence or absence of associated anomalies. The definitive diagnosis of pediatric airway was made by means of rigid bronchoscope and computed tomography scan with three-dimensional reconstruction (3D-CT). Rigid bronchoscopy and 3D-CT confirmed the diagnosis in all the cases. Other associated anomalies include congenital heart disease, vascular anomalies, and BPFM (maldevelopment of aerodigestive tract). After definitive diagnosis of pediatric airway lesions, surgical intervention should be considered. Surgical strategy was presented on each lesion.
Topics: Constriction, Pathologic; Humans; Laryngostenosis; Larynx; Otorhinolaryngologic Surgical Procedures; Trachea; Tracheal Stenosis; Tracheomalacia
PubMed: 28132084
DOI: 10.1007/s00383-016-4050-7 -
Developmental Biology Sep 2021Trachea-esophageal defects (TEDs), including esophageal atresia (EA), tracheoesophageal fistula (TEF), and laryngeal-tracheoesophageal clefts (LTEC), are a spectrum of... (Review)
Review
Trachea-esophageal defects (TEDs), including esophageal atresia (EA), tracheoesophageal fistula (TEF), and laryngeal-tracheoesophageal clefts (LTEC), are a spectrum of life-threatening congenital anomalies in which the trachea and esophagus do not form properly. Up until recently, the developmental basis of these conditions and how the trachea and esophagus arise from a common fetal foregut was poorly understood. However, with significant advances in human genetics, organoids, and animal models, and integrating single cell genomics with high resolution imaging, we are revealing the molecular and cellular mechanisms that orchestrate tracheoesophageal morphogenesis and how disruption in these processes leads to birth defects. Here we review the current understanding of the genetic and developmental basis of TEDs. We suggest future opportunities for integrating developmental mechanisms elucidated from animals and organoids with human genetics and clinical data to gain insight into the genotype-phenotype basis of these heterogeneous birth defects. Finally, we envision how this will enhance diagnosis, improve treatment, and perhaps one day, lead to new tissue replacement therapy.
Topics: Animals; Digestive System Abnormalities; Disease Models, Animal; Esophagus; Humans; Organoids; Trachea
PubMed: 34023332
DOI: 10.1016/j.ydbio.2021.05.015 -
Pediatric Pulmonology May 2023Pulmonary artery sling is a rare childhood vascular tracheobronchial compression syndrome that is frequently associated with tracheal stenosis. Consequently, neonates or... (Review)
Review
Pulmonary artery sling is a rare childhood vascular tracheobronchial compression syndrome that is frequently associated with tracheal stenosis. Consequently, neonates or infants may present with critical airway obstruction if there is long segment airway narrowing and complete rings. Rapid diagnosis of this cardiac vascular malformation and evaluation of the extent and severity of airway involvement is essential to plan surgery, typically a slide tracheoplasty to relieve critical airway obstruction. Long term outcome can be excellent following surgical repair of the stenosed airway and reimplantation of the left pulmonary artery. In this review we focus on the embryology, diagnostic workup, airway investigations and management for this rare but challenging congenital condition.
Topics: Infant; Infant, Newborn; Humans; Child; Pulmonary Artery; Treatment Outcome; Retrospective Studies; Heart Defects, Congenital; Vascular Malformations; Airway Obstruction; Trachea
PubMed: 36790334
DOI: 10.1002/ppul.26345