Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0014848 (achalasia)
 2,804 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 67 year old male caucasian clerical worker with a background of long-standing gastro-oesophageal reflux-like dyspepsia and bronchiectasis presented to a tertiary hospital gastroenterology unit with a recent onset of dysphagia. An initial diagnosis of achalasia was made and within 1 year an established verrucous carcinoma of the upper oesophagus had developed. The tumour was inoperable due to tracheal invasion and therefore palliative treatment was given. The patient developed a tracheo-oesophageal fistula and died of pneumonia. Thus, verrucous squamous cell carcinoma of the oesophagus can occur with achalasia.
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PMID:Verrucous carcinoma of the oesophagus and achalasia. 843 56

The nontuberculous mycobacteria (NTMB) are a group of bacteria that can infect the cervical lymph nodes, skin, soft tissues, and lung. Pulmonary NTMB disease is increasing in prevalence and is most commonly caused by Mycobacterium avium-intracellulare or M kansasii. Occasionally, M xenopi, M fortuitum, or M chelonae also causes pulmonary disease. Diagnosis of pulmonary NTMB infection is often difficult because isolation of the organism from sputum or bronchoalveolar lavage fluid can represent airway colonization. The radiologic manifestations of pulmonary NTMB infection are protean and include consolidation, cavitation, fibrosis, nodules, bronchiectasis, and adenopathy. Pulmonary NTMB infection has five distinct clinicoradiologic manifestations: (a) classic infection, (b) nonclassic infection, (c) nodules in asymptomatic patients, (d) infection in patients with achalasia, and (e) infection in immunocompromised patients. Although classic NTMB infection may be indistinguishable from active tuberculosis, it is usually more indolent. The radiologic features of nonclassic NTMB infection are characteristic: bronchiectasis and centrilobular nodules isolated to or most severe in the lingula and middle lobe. In patients with acquired immunodeficiency syndrome, mediastinal or hilar adenopathy is the most common radiographic finding. Knowledge of the full spectrum of clinical and radiologic features of pulmonary NTMB infection is important to facilitate diagnosis and treatment.
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PMID:Pulmonary nontuberculous mycobacterial infection: radiologic manifestations. 1055 71

Tracheoesophageal fistulas (TEF) in adults are most commonly neoplastic, and very rarely congenital in nature. We report a 45-year-old Hispanic male with TEF and initial presentation of minimal hemoptysis. The patient had radiographic evidence of unilateral upper lobe (RUL) bronchiectasis, massive esophageal dilatation, and dysmotility. However, there was no evidence of esophageal malignancy, achalasia, or Chagas' disease. Bronchoscopy revealed a large TEF in the posterior wall of trachea, which was not visualized on esophagram or esophagoscopy. Bronchoalveolar lavage (BAL) cultures grew Mycobacterium avium complex (MAC). Our report illustrates that idiopathic, or congenital, TEF can be associated with esophageal dysmotility, adulthood bronchiectasis, and atypical mycobacterial superinfection.
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PMID:Unilateral bronchiectasis and esophageal dysmotility in congenital adult tracheoesophageal fistula. 1150 3

Dilatation and oesophageal body aperistalsis in achalasia can lead to stasis which in turn can induce repeated microaspiration. It is therefore conceivable that patients with achalasia may also have abnormalities in lungs secondary to repeated episodes of microaspiration. There is a lack of systematic study on involvement of lungs in patients with achalasia. Thirty patients with achalasia underwent pulmonary function tests (spirometry, and carbon mono-oxide diffusion capacity) and high resolution computerized tomography (HRCT) of the chest. The mean age of patients and mean duration of disease were 33.5 +/- 10.9 years and 28.1 +/- 27.3 months respectively. Regurgitation was present in 22 (73.3%) of them. Respiratory symptoms in them were dry cough in 17 (56.6%), and chest pain in 18 (60%). The oesophagus was dilated in 26 (86.6%) and 13 (43.3%) had residue in oesophagus. Sixteen (53.3%) patients had either anatomical changes as seen on HRCT or functional changes as observed on pulmonary function tests. Of those with functional abnormalities, five (16.6%) and one (3.3%) had restrictive and obstructive airways disease respectively. While evidence of tracheo-bronchial compression by dilated oesophagus was present in eight (26.6%), 10 (33.3%) patients had parenchymal lung disease [nodular opacities in five (16.6%), ground glass appearance six (20%), patchy pulmonary fibrosis five (16.6%), air trapping two (6.6%), consolidation and bronchiectasis one (3.3%) each]. There was a significant association between presence of regurgitation and dilatation of oesophagus (P = 0.032). More than half (53.3%) of patients with achalasia have structural and/or functional abnormalities in lungs.
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PMID:Structural and functional abnormalities in lungs in patients with achalasia. 1922 59

Tracheo-esophageal fistulas (TEF) in adults are very rarely congenital in nature and most of the cases are secondary to neoplastic cause. We report a 26-year-old male with TEF that presented with chronic cough. An x-ray carried out for the patient showed upper lobe bronchiectasis and massive esophageal dilatation. There was no evidence of esophageal malignancy, achalasia, or Chagas' disease. There was no history of trauma, infection, or intervention. The CT demonstrated a small TEF, which was not visualized on esophagogram and confirmed by bronchoscopy. Our case demonstrated that idiopathic, or congenital TEF can be presented in adulthood with esophageal dysmotility and bronchiectasis.
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PMID:Adult congenital tracheo-esophageal fistula with esophageal dysmotility and bronchiectasis. 2138 69

We report on the case of a 3-year-old child presenting bilateral bronchiectasis due to recurrent pneumonia with esophageal achalasia. The final diagnosis was triple A syndrome. This presentation is particularly atypical and rare at this age.
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PMID:[Bronchiectasis revealing triple A syndrome]. 2604 40

Aerodigestive diseases, hybrid disorders representing a pathologic link between respiratory and alimentary tracts, may manifest with respiratory signs without gastrointestinal signs. These are underdiagnosed in dogs due to poor clinical recognition and diagnostic limitations. We hypothesize that a subset of dogs presenting for cough without gastrointestinal signs would have occult aerodigestive disorders identified using videofluoroscopic swallow study (VFSS). Data were retrospectively obtained from 31 client-owned dogs presenting for cough, with thoracic radiographs, and a VFSS between April 2015 and December 2017. Exclusion criteria were cough of cardiac origin or gastrointestinal signs within 6 months. Swallow study parameters included pharyngeal/esophageal motility, laryngeal obstruction/defects, penetration-aspiration, reflux, excessive aerophagia, megaesophagus (ME), lower-esophageal sphincter achalasia-like syndrome (LES-AS), and sliding hiatal hernia (HH). The median (interquartile range) duration of cough was 4 (2-8) months. Thoracic radiographs were unremarkable in 11 dogs, with aspiration pneumonia suspected in seven. In 25/31 dogs (81%), VFSS abnormalities were detected and some dogs had more than one defect: pharyngeal (n=10) or esophageal hypomotility (n=10), reflux (n=9), penetration-aspiration (n=8), excessive aerophagia (n=6), laryngeal obstruction (n=3), ME (n=3), HH (n=2), and LES-AS (n=1). A respiratory disorder causing cough was identified in 17 dogs with VFSS abnormalities (laryngeal obstruction/defect and airway disease including chronic or eosinophilic bronchitis, tracheal/mainstem bronchial collapse, bronchiectasis, and bronchomalacia). An alimentary disorder identified on VFSS in absence of a discrete respiratory disorder causing cough was diagnosed in eight dogs. In conclusion, canine aerodigestive disorders can manifest as cough without alimentary signs. VFSS is a useful diagnostic to determine the contribution of esophageal/gastrointestinal pathology in dogs with cough.
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PMID:Aerodigestive disorders in dogs evaluated for cough using respiratory fluoroscopy and videofluoroscopic swallow studies. 3149 90