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Respiratory Medicine Jan 2019Tracheal collapse is a weakness of the tracheal wall leading to expiratory central airway collapse of more than 50% compared to inspiration. It has previously been... (Comparative Study)
Comparative Study
BACKGROUND
Tracheal collapse is a weakness of the tracheal wall leading to expiratory central airway collapse of more than 50% compared to inspiration. It has previously been discussed whether the collapsibility of the greater airways is a stable or a dynamic condition. Indeed, other well-known lung diseases such as asthma are characterized by dynamic changes with respect to pulmonary function indices. There are several different morphologies of the trachea related to collapsibility such as the crescent type and the saber-sheath type both involving the tracheal cartilage and excess dynamic airway collapse only involving the posterior membranous part of the trachea. Is the morphology of the trachea important for the course of the disease? The effect or adverse effects of inhaled corticosteroids are thought to play a role in the increasing incidence of the excess tracheal collapse. In this pilot study, we hypothesized that the excess collapsibility of the tracheal wall is dynamic.
METHODS
We prospectively examined 20 patients with excessive tracheal collapse on previous CT scans performed primarily due to bronchiectasis. A repeat CT scan was performed in order to evaluate the collapsibility. Before the repeat scan, patients were trained in maximal inspiration, expiration and breathholding. CT was performed in full inspiration and at end-expiration. Image assessment was performed on a dedicated CT workstation using standard lung window display settings. The percentage expiratory collapse based on cross sectional areas from carina to the thoracic inlet was calculated. Pulmonary function tests were performed and analysed in accordance with the American Thoracic Society and the European Respiratory Society guidelines.
RESULTS
Repeat CT scan were performed after 24 month +/- 7.2. Six of the 20 participants (30%) were males. Mean age was 67 +/- 11.3 years. Mean FEV1 was 83% of predicted, FVC 96.6 % of predicted and FEV1/FVC-ratio 71%. In 45% of the patients tracheal expiratory collapse improved (by more than 10%) based on percentage change in cross sectional areas in expiration compared to inspiration. 35% of patients showed disease progression with increased collapse and in 20% the collapsibility remained unchanged.
CONCLUSION
We demonstrate that the collapsibility in a large fraction of the patients had actually improved at the follow up examination. We do not find any dependency of the change in collapsibility on the morphology of the trachea after end expiration, use of corticosteroid, or recurrent infections. In addition, no correlation between the changes in collapse and changes in the pulmonary function tests and the symptoms is observed.
Topics: Administration, Inhalation; Adrenal Cortex Hormones; Aged; Disease Progression; Exhalation; Female; Humans; Incidence; Inhalation; Lung; Male; Middle Aged; Prospective Studies; Respiratory Function Tests; Time Factors; Tomography, X-Ray Computed; Trachea; Tracheal Diseases
PubMed: 30665510
DOI: 10.1016/j.rmed.2018.11.018 -
Poultry Science Mar 2022Mycoplasma synoviae (MS), an important avian pathogen, can cause chronic respiratory disease, eggshell apex abnormalities, infectious synovitis, and arthritis in avian...
Mycoplasma synoviae (MS), an important avian pathogen, can cause chronic respiratory disease, eggshell apex abnormalities, infectious synovitis, and arthritis in avian species, leading serious economic losses in the global poultry industry. To date, studies have shown significant different transcript profiles using various chicken cells after MS infection. However, in vitro cell models cannot fully represent the complex in vivo regulations after adventitious infection. The objective of this study was to explore the nature of the host-pathogen interaction during MS infection. The tracheal and spleen tissues of chickens were collected at d 0, 1, 3, and 5 postinoculation, and samples were analyzed for differential gene expression using Illumina RNA sequencing. A lot of significantly differentially expressed genes (DEGs) were observed in this analysis, and 861 DEGs were observed in trachea tissues and 753 DEGs were observed in spleen samples. Many of DEGs in trachea tissues participate in a variety of cellular activities, especially cellular metabolism. Immune-related DEGs were mainly enriched at d 3, and 5 postinfection in trachea tissues. While, DEGs in spleen tissues were significantly and mainly enriched into immune-related pathways. The results of this study show the direct interactions between MS and the chicken trachea and spleen for the first time. Early dysregulation of tissue-wide gene expression as observed here set the stage for persistent infection of MS.
Topics: Animals; Chickens; Mycoplasma Infections; Mycoplasma synoviae; Ovum; Poultry Diseases; Trachea
PubMed: 35077920
DOI: 10.1016/j.psj.2021.101660 -
Journal of Medical Case Reports Dec 2016The vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and... (Review)
Review
Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome in co-occurrence: two case reports and a review of the literature.
BACKGROUND
The vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome are rare conditions. We aimed to present two cases with the vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser co-occurrence from our local surgical center and through a systematic literature search detect published cases. Furthermore, we aimed to collect existing knowledge in the embryopathogenesis and genetics in order to discuss a possible link between the vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome.
CASE PRESENTATION
Our first case was a white girl delivered by caesarean section at 37 weeks of gestation; our second case was a white girl born at a gestational age of 40 weeks. A co-occurrence of vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome was diagnosed in both cases. We performed a systematic literature search in PubMed ((VACTERL) OR (VATER)) AND ((MRKH) OR (Mayer-Rokitansky-Küster-Hauser) OR (mullerian agenesis) OR (mullerian aplasia) OR (MURCS)) without limitations. A similar search was performed in Embase and the Cochrane library. We added two cases from our local center. All cases (n = 9) presented with anal atresia and renal defect. Vertebral defects were present in eight patients. Rectovestibular fistula was confirmed in seven patients. Along with the uterovaginal agenesis, fallopian tube aplasia appeared in five of nine cases and in two cases ovarian involvement also existed.
CONCLUSIONS
The co-occurrence of the vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome is extremely rare. This group of patients has unusual phenotypic characteristics. The long-term outcome after treatment of defects is not well reported. A single unifying cause is not known and the etiology probably includes both genetic and non-genetic causes. We stress the importance of future studies to optimized treatment, follow-up, and etiology.
Topics: 46, XX Disorders of Sex Development; Abnormalities, Multiple; Anal Canal; Esophageal Atresia; Esophagus; Female; Heart Defects, Congenital; Humans; Infant; Infant, Newborn; Kidney; Limb Deformities, Congenital; Mullerian Ducts; Plastic Surgery Procedures; Spine; Surgically-Created Structures; Trachea; Tracheoesophageal Fistula; Treatment Outcome; Vagina
PubMed: 28003020
DOI: 10.1186/s13256-016-1127-9 -
Pediatric Research Apr 2022The population-level landscape of co-occurring birth defects among infants without a syndromic diagnosis is not well understood.
BACKGROUND
The population-level landscape of co-occurring birth defects among infants without a syndromic diagnosis is not well understood.
METHODS
We analyzed data from 40,771 infants with two or more major birth defects in the Texas Birth Defects Registry (TBDR; 1999-2014). We calculated adjusted observed-to-expected (O/E) ratios for all two, three, four, and five-way combinations of 138 major defects.
RESULTS
Among 530 patterns with the highest adjusted O/E ratios (top 5% of 10,595 patterns), 66% included only defects co-occurring within one organ system and 28% were suggestive of known patterns (e.g., midline developmental defects). Of the remaining patterns, the combination of defects with the highest O/E ratio (193.8) encompassed the diaphragm, spine, spleen, and heart defects. Fourteen patterns involved heart and spine defects with or without rib defects. Ten additional patterns primarily involved two hallmark components of VACTERL association (specifically, vertebral defects, anal atresia, cardiac defects, renal, or limb defects, but not tracheoesophageal fistula).
CONCLUSIONS
Our analyses provide a description of the birth defect co-occurrence patterns in a multi-ethnic, population-based sample, and revealed several patterns of interest. This work complements prior work that has suggested etiologic connections between select defects (e.g., diaphragmatic hernia and heart and spleen anomalies; heart and spine defects).
IMPACT
In this large-scale, population-based study of birth defect co-occurrence patterns, we found several birth defect combinations of potential interest that warrant further investigation: congenital diaphragmatic hernia, heart, spine, and spleen defects and scimitar syndrome with vertebral defects. The majority of patterns of co-occurring defects observed more frequently than expected involved multiple defects within the same system and combinations suggestive of known associations. Nearly all of the top patterns (beyond the same system and those suggestive of known associations) involved organ systems that are components of the VACTERL association, with heart, spine, and rib defect patterns being the most common.
Topics: Anal Canal; Esophagus; Heart Defects, Congenital; Humans; Infant; Kidney; Limb Deformities, Congenital; Registries; Spine; Texas; Trachea
PubMed: 34193968
DOI: 10.1038/s41390-021-01629-w -
Journal of Assisted Reproduction and... Aug 2019While mitotic errors commonly cause aneuploid clones soon after conception, the embryos often normalize as clones are rapidly eliminated. Although generally considered... (Review)
Review
While mitotic errors commonly cause aneuploid clones soon after conception, the embryos often normalize as clones are rapidly eliminated. Although generally considered benign, evidence suggests clone elimination as the primary cause of the vertebral, ano-rectal, cardiac, tracheo-esophageal, renal, and limb (VACTERL) association of anomalies, and possibly other adverse outcomes as well. Here, clone elimination-related development disruption at specific locations is used as the basis of a comprehensive theoretical VACTERL association model that also elucidates mitotic mosaic aneuploidy effects. For the association, the model explains random temporal and spatial origins during a limited time frame and overlapping clusters of component anomalies. It supports early developmental effects involving the stage of determination, where the position in a specific morphogen field controls what a cell will become and where it will be located. Developmental properties related to determination also create specific vulnerabilities to the midline and distal defects, the latter explaining exclusively radial and tibial defects with duplications and deficiencies. The model also supports isolated anomalies as part of the association and, for mosaic mitotic aneuploidy, indicates that clone elimination nears completion at the time of lower limb determination. Although mosaic clone elimination may cause other defects, occurrences in different developmental fields separate them from VACTERL anomalies. Clone elimination may also be related to risks for a single umbilical artery and for non-structural adverse pregnancy outcomes such as losses, prematurity, and growth delays, while a paucity of clone lethality in non-humans explains the rarity of the association and of single umbilical arteries in animals.
Topics: Abnormalities, Multiple; Anal Canal; Aneuploidy; Animals; Embryo, Mammalian; Embryo, Nonmammalian; Esophagus; Female; Heart Defects, Congenital; Kidney; Limb Deformities, Congenital; Pregnancy; Spine; Trachea
PubMed: 31129863
DOI: 10.1007/s10815-019-01485-y -
PloS One 2020Esophageal atresia (EA) and tracheoesophageal fistula (TEF) are relatively frequently occurring foregut malformations. EA/TEF is thought to have a strong genetic...
Esophageal atresia (EA) and tracheoesophageal fistula (TEF) are relatively frequently occurring foregut malformations. EA/TEF is thought to have a strong genetic component. Not much is known regarding the biological processes disturbed or which cell type is affected in patients. This hampers the detection of the responsible culprits (genetic or environmental) for the origin of these congenital anatomical malformations. Therefore, we examined gene expression patterns in the TEF and compared them to the patterns in esophageal, tracheal and lung control samples. We studied tissue organization and key proteins using immunohistochemistry. There were clear differences between TEF and control samples. Based on the number of differentially expressed genes as well as histological characteristics, TEFs were most similar to normal esophagus. The BMP-signaling pathway, actin cytoskeleton and extracellular matrix pathways are downregulated in TEF. Genes involved in smooth muscle contraction are overexpressed in TEF compared to esophagus as well as trachea. These enriched pathways indicate myofibroblast activated fibrosis. TEF represents a specific tissue type with large contributions of intestinal smooth muscle cells and neurons. All major cell types present in esophagus are present-albeit often structurally disorganized-in TEF, indicating that its etiology should not be sought in cell fate specification.
Topics: Actin Cytoskeleton; Adult; Bone Morphogenetic Proteins; Esophagus; Extracellular Matrix; Female; Fibrosis; Humans; Lung; Male; Signal Transduction; Trachea; Tracheoesophageal Fistula; Transcriptome
PubMed: 33201890
DOI: 10.1371/journal.pone.0242167 -
Developmental Dynamics : An Official... Mar 2015The alimentary and respiratory organ systems arise from a common endodermal origin, the anterior foregut tube. Formation of the esophagus from the dorsal region and the... (Review)
Review
The alimentary and respiratory organ systems arise from a common endodermal origin, the anterior foregut tube. Formation of the esophagus from the dorsal region and the trachea from the ventral region of the foregut primordium occurs by means of a poorly understood compartmentalization process. Disruption of this process can result in severe birth defects, such as esophageal atresia and tracheo-esphageal fistula (EA/TEF), in which the lumina of the trachea and esophagus remain connected. Here we summarize the signaling networks known to be necessary for regulating dorsoventral patterning within the common foregut tube and cellular behaviors that may occur during normal foregut compartmentalization. We propose that dorsoventral patterning serves to establish a lateral region of the foregut tube that is capable of undergoing specialized cellular rearrangements, culminating in compartmentalization. We review established as well as new rodent models that may be useful in addressing this hypothesis. Finally, we discuss new experimental models that could help elucidate the mechanism behind foregut compartmentalization. An integrated approach to future foregut morphogenesis research will allow for a better understanding of this complex process.
Topics: Animals; Esophagus; Humans; Models, Biological; Organogenesis; Trachea
PubMed: 25329576
DOI: 10.1002/dvdy.24219 -
Annals of Thoracic and Cardiovascular... Apr 2022Congenital tracheal stenosis (CTS) with a bilateral tracheal bronchus (TB) has not been reported as a subtype of CTS. A novel technique to manage CTS in patients with a...
INTRODUCTION
Congenital tracheal stenosis (CTS) with a bilateral tracheal bronchus (TB) has not been reported as a subtype of CTS. A novel technique to manage CTS in patients with a bilateral TB is described.
CASE REPORT
An infant with tetralogy of Fallot underwent repair of cardiac anomaly at age 1 month. He experienced numerous cyanosis and episodes of transient respiratory arrest. Chest computed tomography (CT) demonstrated an aberrant bilateral upper lobe bronchus arising directly from the trachea and a stenotic trachea connecting the pseudo- carina to the true carina between the common right lower and left lower bronchus. On bronchoscopy, the diameter of the lumen of the narrowed segment was estimated to be less than 2 mm. Tracheal reconstruction was undertaken when he was 2 years of age. The surgical technique using a modified slide tracheoplasty for the correction of this anomaly are described. After surgery, the patient was extubated and has had no respiratory symptoms.
DISCUSSION AND CONCLUSION
The patient had unique anatomic considerations that made reconstruction challenging. Our technique of covering a stenotic section by normal trachea is a modification of the slide tracheoplasty technique and is useful for CTS with a unilateral and a bilateral TB.
Topics: Bronchi; Constriction, Pathologic; Humans; Infant; Male; Trachea; Tracheal Stenosis; Treatment Outcome
PubMed: 31996506
DOI: 10.5761/atcs.cr.19-00198 -
PloS One 2022Current knowledge of transitional care from the perspective of individuals with congenital malformations is scarce. Their viewpoints are required for the development of...
Current knowledge of transitional care from the perspective of individuals with congenital malformations is scarce. Their viewpoints are required for the development of follow-up programs and transitional care corresponding to patients' needs. The study aimed to describe expectations, concerns, and experiences in conjunction with transfer to adult health care among adolescents, young adults, and adults with VACTERL association, (i.e. vertebral defects, anorectal malformations (ARM), cardiac defects (CHD), esophageal atresia (EA), renal, and limb abnormalities). Semi-structured telephone interviews were performed and analyzed with qualitative content analysis. Of 47 invited individuals, 22 participated (12 males and 10 females). An overarching theme emerged: Leaving the safe nest of pediatric health care for an unfamiliar and uncertain follow up yet growing in responsibility and appreciating the adult health care. The participants described expectations of qualified adult health care but also concerns about the process and transfer to an unfamiliar setting. Individuals who were transferred described implemented or absence of preparations. Positive and negative experiences of adult health care were recounted including being treated as adults. The informants described increasing involvement in health care but were still supported by their parents. Ongoing follow up of health conditions was recounted but also uncertainty around the continuation, missing follow up and limited knowledge of how to contact health care. The participants recommended information ahead of transfer and expressed wishes for continued health care with regular follow up and accessibility to a contact person. Based on the participants' perspective, a transitional plan is required including early information about transfer and follow up to prepare the adolescents and reduce uncertainty concerning future health care. Meetings with the pediatric and adult team together with the patient and the parents are essential before transfer. Follow up should be centralized to centers with multi-professional teams well-experienced with the condition. Further studies are warranted to evaluate the transition process for adolescents and young adults with complex congenital health conditions.
Topics: Adolescent; Anal Canal; Child; Delivery of Health Care; Esophagus; Female; Heart Defects, Congenital; Humans; Kidney; Limb Deformities, Congenital; Male; Spine; Sweden; Trachea; Transition to Adult Care; Young Adult
PubMed: 35622841
DOI: 10.1371/journal.pone.0269163 -
Neonatology 2023There is currently no validated diagnostic modality to characterize the anatomy and predict outcomes of tracheal esophageal defects, such as esophageal atresia (EA) and... (Observational Study)
Observational Study
INTRODUCTION
There is currently no validated diagnostic modality to characterize the anatomy and predict outcomes of tracheal esophageal defects, such as esophageal atresia (EA) and tracheal esophageal fistulas (TEFs). We hypothesized that ultra-short echo-time MRI would provide enhanced anatomic information allowing for evaluation of specific EA/TEF anatomy and identification of risk factors that predict outcome in infants with EA/TEF.
METHODS
In this observational study, 11 infants had pre-repair ultra-short echo-time MRI of the chest completed. Esophageal size was measured at the widest point distal to the epiglottis and proximal to the carina. Angle of tracheal deviation was measured by identifying the initial point of deviation and the farthest lateral point proximal to the carina.
RESULTS
Infants without a proximal TEF had a larger proximal esophageal diameter (13.5 ± 5.1 mm vs. 6.8 ± 2.1 mm, p = 0.07) when compared to infants with a proximal TEF. The angle of tracheal deviation in infants without a proximal TEF was larger than infants with a proximal TEF (16.1 ± 6.1° vs. 8.2 ± 5.4°, p = 0.09) and controls (16.1 ± 6.1° vs. 8.0 ± 3.1°, p = 0.005). An increase in the angle of tracheal deviation was positively correlated with duration of post-operative mechanical ventilation (Pearson r = 0.83, p < 0.002) and total duration of post-operative respiratory support (Pearson r = 0.80, p = 0.004).
DISCUSSION
These results demonstrate that infants without a proximal TEF have a larger proximal esophagus and a greater angle of tracheal deviation which is directly correlated with the need for longer post-operative respiratory support. Additionally, these results demonstrate that MRI is a useful tool to assess the anatomy of EA/TEF.
Topics: Humans; Infant; Esophageal Atresia; Tracheoesophageal Fistula; Postoperative Complications; Trachea; Prognosis
PubMed: 36812903
DOI: 10.1159/000526794