A rare case of postnatal mosaic trisomy 12 with severe congenital heart disease and literature review.

Trisomy 12 is a rare autosomal aneuploidy. All postnatally diagnosed individuals with trisomy 12 have been mosaic for this chromosome abnormality. We herein report an infant girl presented at 2 weeks of age with severe congenital heart defect, tracheobronchomalacia, and dysmorphic features. All of the dysmorphic features of this patient fit into the known phenotype spectrum of mosaic trisomy 12, although this patient uniquely presented with macrocephaly. Tracheo-bronchomalacia has been described once previously but had a significant impact on this patient's clinical course. The patient passed away at 2-month-old due to cardiac and respiratory complications. Chromosomal single nucleotide polymorphism (SNP) microarray analysis on a peripheral blood sample from the patient revealed trisomy 12 in approximately 50% of cells. Concurrent fluorescence in situ hybridization analysis of uncultured blood cells detected a comparable level of trisomy 12 mosaicism. Compared to conventional cytogenetics, SNP microarray examines all nucleated cells without sampling bias, has an increased power to estimate mosaicism level, and can provide a quick assessment of the underlying mechanism. Here we demonstrate the utilization of SNP microarray in the clinical diagnosis of those once considered rare disorders but might have been missed by conventional cytogenetic techniques.

Tracheobronchomalacia and Excessive Dynamic Airway Collapse.

Tracheobronchomalacia (TBM) and excessive dynamic airway collapse (EDAC) are more frequently being recognized as the etiology of multiple types of respiratory complaints from chronic cough to exertional syncope to recurrent infections. Identification of these conditions requires a high suspicion, as well as a thorough history and physical examination. Dynamic computed tomography imaging and bronchoscopic evaluation are integral in achieving an accurate diagnosis. Once recognized, treatment ranges from addressing underlying contributing conditions to surgical stabilization of the airway. Referral to an institution familiar with the evaluation and treatment of TBM/EDAC is essential for the appropriate management of these conditions.

Silent tracheobronchial chondritis in a patient with a delayed diagnosis of relapsing polychondritis.

Relapsing polychondritis is a very rare autoimmune disease characterised by a relapsing inflammation of hyaline, elastic and fibrous cartilaginous tissues. The incidence is estimated to be between 3.5 and 4.5 per million people per year. Clinical signs and symptoms can be very subtle, and if left undiagnosed for a prolonged period, airway involvement can cause fibrosis of the tracheobronchial wall, leading to a fixed tracheobronchial stenosis. Eventually, this can progress to life-threatening tracheobronchomalacia due to irreversible damage and loss of tissue integrity. We report an elderly man who presented with recurrent bilateral ear inflammation and intermittent polyarthritis who was diagnosed with relapsing polychondritis with asymptomatic involvement of his large airways.

Robotically Assisted Bilateral Bronchoplasty for Tracheobronchomalacia.

We describe the technique for the first robotically assisted bilateral bronchoplasty for the treatment of tracheobronchomalacia. Since 1954, this disease process has been treated with a right thoracotomy and posterior splinting of the tracheal membrane with mesh to restore the C-shape of the trachea. Traditional video-assisted thoracoscopic surgery has been of limited benefit in these cases owing to technical challenges. A robotically assisted technique offers the dual benefit of a minimally invasive port-based system while reproducing an open surgical technique.

Amiloidosis traqueobronquial: diagnóstico, tratamiento y evolución en 5 casos / Tracheobronchial amyloidosis: Diagnosis, treatment and evolution in 5 patients

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Endodermal Wnt signaling is required for tracheal cartilage formation.

Tracheobronchomalacia is a common congenital defect in which the walls of the trachea and bronchi lack of adequate cartilage required for support of the airways. Deletion of Wls, a cargo receptor mediating Wnt ligand secretion, in the embryonic endoderm using ShhCre mice inhibited formation of tracheal-bronchial cartilaginous rings. The normal dorsal-ventral patterning of tracheal mesenchyme was lost. Smooth muscle cells, identified by Acta2 staining, were aberrantly located in ventral mesenchyme of the trachea, normally the region of Sox9 expression in cartilage progenitors. Wnt/ß-catenin activity, indicated by Axin2 LacZ reporter, was decreased in tracheal mesenchyme of Wls(f/f);Shh(Cre/+) embryos. Proliferation of chondroblasts was decreased and reciprocally, proliferation of smooth muscle cells was increased in Wls(f/f);Shh(Cre/+) tracheal tissue. Expression of Tbx4, Tbx5, Msx1 and Msx2, known to mediate cartilage and muscle patterning, were decreased in tracheal mesenchyme of Wls(f/f);Shh(Cre/+) embryos. Ex vivo studies demonstrated that Wnt7b and Wnt5a, expressed by the epithelium of developing trachea, and active Wnt/ß-catenin signaling are required for tracheal chondrogenesis before formation of mesenchymal condensations. In conclusion, Wnt ligands produced by the tracheal epithelium pattern the tracheal mesenchyme via modulation of gene expression and cell proliferation required for proper tracheal cartilage and smooth muscle differentiation.

What's in a name? Expiratory tracheal narrowing in adults explained.

Tracheomalacia, tracheobronchomalacia, and excessive dynamic airway collapse are all terms used to describe tracheal narrowing in expiration. The first two describe luminal reduction from cartilage softening and the latter refers to luminal reduction from exaggerated posterior membrane movement. Expiratory tracheal narrowing is a frequent occurrence that can cause symptoms of airway obstruction, such as dyspnoea, wheeze, and exercise intolerance. The accurate diagnosis and quantification of expiratory tracheal narrowing has important aetiological, therapeutic, and prognostic implications. The reference standard for diagnosis has traditionally been bronchoscopy; however, this method has significant limitations. Expiratory tracheal disorders are readily detected by four-dimensional dynamic volume multidetector computed tomography (4D-CT), an emerging, non-invasive method that will potentially enable detection and quantification of these conditions. This review discusses the morphological forms of expiratory tracheal narrowing and demonstrates the utility of 4D-CT in the diagnosis, quantification, and treatment of these important conditions.

Tracheobronchomalacia in children: review of diagnosis and definition.

Tracheobronchomalacia is characterised by excessive airway collapsibility due to weakness of airway walls and supporting cartilage. The standard definition requires reduction in cross-sectional area of at least 50% on expiration. However, there is a paucity of information regarding the normal range of central airway collapse among children of varying ages, ethnicities and genders, with and without coexisting pulmonary disease. Consequently, the threshold for pathological collapse is considered somewhat arbitrary. Available methods for assessing the airway dynamically--bronchoscopy, radiography, cine fluoroscopy, bronchography, CT and MR--have issues with reliability, the need for intubation, radiation dose and contrast administration. In addition, there are varying means of eliciting the diagnosis. Forced expiratory manoeuvres have been employed but can exaggerate normal physiological changes. Furthermore, radiographic evidence of tracheal compression does not necessarily translate into physiological or functional significance. Given that the criteria used to make the diagnosis of tracheobronchomalacia are poorly validated, further studies with larger patient samples are required to define the threshold for pathological airway collapse.

Upper airway abnormalities detected in children using flexible bronchoscopy.

OBJECTIVES: Rapid anatomical evaluation is essential to establish the severity of cases with upper respiratory obstruction and to define the degree of respiratory distress. Detailed airway endoscopy is required in most patients, not only for diagnosis, but also to treat the condition. In this study, as two of the largest paediatric pulmonology centres in Turkey, we reviewed the data of our bronchoscopy patients, and aimed to document the upper airway abnormalities that we detected during these procedures. PATIENTS AND METHODS: A retrospective analysis was made of the records of 1076 paediatric cases with pulmonary/airway disease who had undergone flexible bronchoscopy between 2007 and 2011. RESULTS: Upper airway malacia disorders were the most common (79.6%, n=259) bronchoscopic findings detected in the patients. The other most common pathologies were laryngeal edema (12.9%, n=42), external tracheal compression (12.3%, n=40), subglottic stenosis (4.0%, n=13), tracheal stenosis (2.8%, n=9), and vocal cord paralysis/irregularity (2.8%, n=9). The mean duration of symptoms was shortest in patients with vocal cord paralysis, and longest in patients with tracheal nodules (p<0.001). CONCLUSION: Paediatricians should keep in mind the possibility of malacia disorders and other congenital and acquired upper airway abnormalities in children with chronic respiratory problems. Diagnosis of underlying diseases, as soon as possible, permits the withdrawal of antibiotics or antiasthmatic drugs often used unnecessarily for long periods to treat these children.

Tracheobronchomalacia: current concepts and controversies.

Tracheobronchomalacia (TBM) results from weakness of the airway walls and/or supporting cartilage and affects both adult and pediatric populations. Diagnosing TBM is challenging because symptoms are nonspecific and overlap with those of other chronic respiratory disorders. Recent advances in multidetector computed tomography have facilitated the noninvasive diagnosis of TBM, and concurrent advances in management have improved clinical outcomes and created a need for greater awareness of the posttreatment appearance of the airways. This review discusses the physiology, histopathology, epidemiology, and clinical features of TBM; it also describes current methods of diagnosis, available therapies, and postoperative imaging evaluation.

[Relapsing polychondritis]. / La polychondrite chronique atrophiante.

Relapsing polychondritis is a rare systemic disease. Clinical manifestations are variable and the condition is frequently associated with other diseases. Chondritis typically involves ears, nose, costal cartilages and upper airways. Other classical features include scleritis and episcleritis, mucocutaneous lesions, arthralgia and constitutional symptoms. Repeated inflammation of cartilaginous structures may lead to deformities of the ears, the nose and the airways. Tracheobronchomalacia and aortitis of the ascending portion resulting in aortic regurgitation or aneurysm are feared complications. Treatment is mainly based on systemic corticosteroids alone or in association with immunosuppressants. Several biological immunosuppressive agents are reported effective in refractory disease.

Congenital cystic adenomatoid malformation of lung type 1.

Congenital cystic adenomatoid malformation, a rare developmental, hamartomatous abnormality of the lung, usually is unilateral, is localized, and presents in early infancy. Delayed occurrence in older children and multilobar involvement are rare. We describe a case of congenital cystic adenomatoid malformation type 1 with multilobar involvement, associated emphysema, and coexistent tracheobronchopathia osteochondroplastica in an adolescent girl for whom the correct diagnosis was achieved only on histologic examination. The importance of an accurate diagnosis of this entity enables proper subtyping, management to minimize the risk of infections and malignancy, and exclusion of associated malformations.

Tracheal collapse and bronchomalacia in dogs: 58 cases (7 /2001-1 /2008).

BACKGROUND: Tracheobronchomalacia is diagnosed in people by documentation of a reduction in airway diameter during bronchoscopy. While tracheal collapse in the dog has been well described in the literature, little information is available on bronchomalacia in the dog. HYPOTHESES: Bronchomalacia is common in dogs with tracheal collapse, is associated with inflammatory airway disease, and is poorly documented radiographically. ANIMALS: One hundred and fifteen dogs admitted for evaluation for respiratory disease and examined by bronchoscopy. METHODS: Case-controlled, observational study. Dogs examined and having a bronchoscopic procedure performed by a single operator were separated into groups with and without visually identified airway collapse. Clinical parameters and bronchoalveolar lavage findings were compared between groups. Radiographs were reviewed in masked fashion to assess the sensitivity and specificity for detection of bronchomalacia. RESULTS: Tracheobronchomalacia was documented in 50% of dogs examined, with tracheal collapse in 21% and bronchomalacia in 47%. In dogs with bronchomalacia, collapse of the right middle (59%) and left cranial (52%) lung lobes was identified most commonly. Dogs with bronchomalacia were significantly more likely to display normal airway cytology and to have mitral regurgitation and cardiomegaly than dogs without airway collapse (P < .05). Radiographs were insensitive for detection of airway collapse. CONCLUSIONS AND CLINICAL IMPORTANCE: Bronchomalacia was identified more commonly than tracheal collapse in this population of dogs, and documentation required bronchoscopy. This study could not confirm a role for airway inflammation in bronchomalacia, and further studies are required to determine the role of cardiomegaly in the disorder.

Tracheobronchomalacia treated by inserting a long T-tube into the left main bronchus.

An 88-year-old woman with advanced Parkinson's disease (stage V on the Yahr scale) had difficulty in expectoration and underwent tracheostomy in 1999. In July 2004, granulation tissue was formed in the tracheal lumen at the tip of the tracheostomy tube, and a standard type silicone T-tube was inserted. Thereafter, she was cared for at home, where she was doing well until early March 2009, when a decrease in SaO(2) and difficulty in sputum aspiration were noted. Bronchoscopy showed crescent type tracheobronchomalacia involving the trachea down to the orifice of the left main bronchus. Considering its localization, an intact right main bronchus, a history of tracheostomy tube placement resulting in granulation tissue formation in the lower trachea, and the future need for frequent sputum aspiration, we inserted a long T-tube into the left main bronchus, which is easily replaceable and facilitates sputum aspiration. Right-lung ventilation was maintained through a side aperture made in the long T-tube. After its insertion, her respiratory status stabilized, secretion drainage improved, and she was discharged for treatment at home. Herein, we describe a tracheobronchomalacia patient in whom airway patency was achieved by inserting a long T-tube with a side aperture into the left main bronchus.

[Analysis of 53 cases with bronchoscopically confirmed pediatric tracheobronchomalacia].

OBJECTIVE: Tracheobronchomalacia is one of the common respiratory tract dysplasia in children. Its symptoms are nonspecific, and routine methods are unreliable in the assessment of tracheobronchomalacia in children. In addition, many physicians are confused about its clinical characteristics, so tracheobronchomalacia is often underdiagnosed. The purpose of this study was to explore the clinical features of tracheobronchomalacia in children and to investigate the diagnostic value of flexible bronchoscopy for children with tracheobronchomalacia. METHOD: For diagnosis and treatment, 229 children out of 4725 patients hospitalized in the division of respiratory disorders were examined by Olympus BF3c-20 flexible bronchoscopy or by Olympus BF-P20 flexible bronchoscopy under general anesthesia with propofol, in Chongqing Children's Hosptial from April 2004 to April 2006. Fifty-three cases were confirmed to have tracheobronchomalacia by bronchoscopy, patients' data including airway lesion, age, sex, clinical characteristics, aided examinations, treatment, final outcomes, were collected and analyzed. RESULTS: (1) Of the 53 children with tracheobronchomalacia, 31 were not suspected for this diagnosis prior to bronchoscopy, who were instead misdiagnosed as refractory pneumonia, difficult-to-control asthma, bronchial foreign body, bronchopulmonary dysplasia and pulmonary atelectasis of unknown origin or bronchiolitis. (2) In the 53 children with tracheobronchomalacia aged one month to eight years, 41 were infants, 6 were younger than two years, 4 were younger than 3 years and the rest 2 cases were older than 3 years. The risk of tracheobronchomalacia related inversely with ages. Ten cases were girls and 43 were boys. (3) Eleven cases had tracheomalacia, 24 bronchomalacia, 18 tracheobronchomalacia; 12 cases had malacia on left lung, 11 on right lung, 19 on both sides; 21 children were mild cases, 25 moderate cases, 7 severe cases. (4) In the 53 children with tracheobronchomalacia, 28 had recurrent or prolonged wheezing, 16 chronic cough, 5 recurrent respiratory infections, 2 atelectasis of unknown origin, and 2 dyspnea. CONCLUSIONS: The infants and toddlers seem to be predisposed more to the bronchomalacia than the older children. Clinical features of children with airway malacia were variable and atypical, expiratory stridor and cough are the most commonly reported symptoms. Flexible bronchoscopy should be regarded as a "golden standard" method for diagnosing TBM.