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

Among 11,821 cases of esophageal carcinoma treated in a 32 year period, 7 were found to be associated with achalasia (0.059%). Five cases were proved by biopsy or cytology and 2 were diagnosed by esophagograms. There were 4 men and 3 women. The age ranged from 30-54 years with a median of 38. The age was younger than that of esophageal carcinoma unassociated with achalasia. Duration of achalasia was from 7 to 20 years. Three patients died within 1 year and 1 died 17 months after diagnosis. Three were lost to follow-up. The presenting symptoms were aggravating dysphagia in 4; and hoarseness, dyspnea and bloody regurgitation in the other two. Patients with achalasia should be treated energetically in the early stage. Double contrast esophagography and esophagoscopy should be done carefully during the followup. Preparation of the esophagus is most important when performing the X-ray examination of the esophagus.
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PMID:[Association of esophageal carcinoma with achalasia--report on 7 cases]. 161 81

We evaluated the use of total thoracic esophagectomy and replacement with stomach in a group of 21 patients between 1976 and 1986 who had undergone multiple unsuccessful esophageal operations. All patients had between one and four unsuccessful operations for benign esophageal disorders. Sixteen patients had primary motor disorders: achalasia in nine and esophageal spasm in seven. Of these patients, 11 also had recurrent gastroesophageal reflux and peptic esophagitis. Complicated reflux disease characterized by severe esophagitis, stricture, and impaired peristalsis without primary motor disorder occurred in five patients. In one patient a functionally impaired long-segment colon interposition was removed and replaced with stomach. Total thoracic esophagectomy and cervical esophagogastric reconstruction was done in all patients. The transhiatal approach was chosen for resection in 16 patients and thoracotomy was used in the other five. There was one perioperative death (5%), from massive aspiration 4 days after transhiatal esophagectomy. Other complications included transient anastomotic leak (three patients), tracheoesophageal fistula (one), recurrent nerve palsy (one), and transient hoarseness (two). Follow-up is complete between 1 and 10 years and reveals the following functional results: 12 patients good to excellent, seven fair, one poor. In this patient group in which multiple prior procedures have failed to improve severe incapacitating symptoms, we believe further attempts at hiatal reconstruction are unlikely to succeed. For this circumstance, we recommend total thoracic esophagectomy with the use of stomach as the replacement organ of choice.
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PMID:Esophagectomy for complex benign esophageal disease. 334 48

Based upon experience with cervicothoracic esophageal carcinomas in which resection of the manubrium, adjacent clavicles, and ribs has facilitated exposure of the tumor, it has been found that a partial upper sternal split (without resection) provides access to the upper thoracic esophagus to the level of the carina. With a knowledge of the anatomic relationships of the esophagus in this area, this direct anterior approach has been used for both benign and selected malignant diseases involving the upper thoracic esophagus. A partial median sternotomy has been used in 11 patients with the following esophageal pathology: upper- and/or middle-third malignancy (six), benign upper-third stricture (three), perforation of upper-third esophagogastric anastomotic stricture (one), and cricopharyngeal achalasia in association with a chronic cervical compression fracture that prevented extension of the neck (one). The following operations were performed: blunt esophagectomy with cervical esophagogastric anastomosis (six), segmental esophageal resection with primary anastomosis (three), drainage of perforation (one), and extended cervical esophagomyotomy (one). A chylothorax developed in one patient with carcinoma, the only major postoperative complication in this group. Transient hoarseness occurred in two patients. Careful evaluation of the patient with upper thoracic esophageal pathology, focusing on the type, extent, and location of the abnormality relative to the level of the carina, as well as the habitus of the patient, often indicates that a partial sternotomy can be utilized to facilitate the operation.
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PMID:Partial median sternotomy: anterior approach to the upper thoracic esophagus. 669 Aug 49

Twenty-two patients with a history of between one and four (average of two) unsuccessful prior esophageal operations for neuromotor dysfunction were treated with esophageal resection and replacement. Eleven (50%) had recurred reflux esophagitis in association with various disorders of motility: esophageal spasm in 4, achalasia in 3, scleroderma in 2, and esophageal atresia in 2. Eight (36%) had primary esophageal spasm and 3 (14%) had achalasia. Esophageal obstruction, regurgitation, and severe spasm were the most common manifestations of the inability to swallow normally. Transthoracic or transhiatal (blunt) esophagectomies were performed in 5 and 17 patients, respectively. The stomach, with a cervical esophagogastric anastomosis, was used for esophageal substitution in 15 patients. Six patients underwent a long-segment colonic interposition, and 1 patient with achalasia underwent a distal esophagectomy and short-segment colonic interposition. One patient undergoing transthoracic esophagectomy for achalasia died from unrecognized intraoperative bleeding into the opposite chest. There were no other operative deaths. Additional complications included transient hoarseness in 8 patients, chylothorax in 1, and anastomotic leak in 1. After an average follow-up of 25 months for the 21 surviving patients, ability to eat is regarded as good in 18 (85%), fair in 1 (5%), and poor in 2 (10%). In patients with incapacitating esophageal neuromotor disease, a more radical operative approach-esophagectomy--may be safer and more reliable than attempting another procedure and risking another failure. Esophagectomy ensures definitive elimination of the esophageal problem and as optimal an ability to eat as possible. Our experience suggests that the stomach, with a cervical esophagogastric anastomosis, offers a better functional esophageal substitute than does a colonic interposition.
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PMID:Esophagectomy: definitive treatment for esophageal neuromotor dysfunction. 711 44

Gastroesophageal reflux disease (GERD) and esophageal achalasia are common benign esophageal diseases. Today minimally invasive surgery is recommended to treat these diseases. Surgical indications for GERD are failure of medical management, medical complications attributable to a large hiatal hernia, 'atypical' symptoms (asthma, hoarseness, cough, chest pain, aspiration), etc. according to the Society of American Gastrointestinal Endoscopic Surgeons (SAGES) guidelines. Laparoscopic Nissen fundoplication has emerged as the most widely accepted procedure for GERD patients with normal esophageal motility. Partial fundoplication (e.g., Toupet fundoplication) is also considered to decrease the possibility of postoperative dysphagia. Although pneumatic dilatation has been the first line treatment for esophageal achalasia, laparoscopic Heller myotomy and partial fundoplication (e.g., Dor fundoplication) to prevent reflux is preferred by most gastroenterologists and surgeons as the primary treatment modality. Laparoscopic surgery for GERD and esophageal achalasia are effective in most patients and safe in all patients. Finally, laparoscopic surgery should be performed only by skilled surgeons.
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PMID:[Endoscopic surgery for benign esophageal diseases]. 1691 May 31

Achalasia is a primary esophageal motor disorder that results in poor clearance of the esophagus. Although an esophagus filled with debris and undigested food should put these patients at risk for aspiration, the frequency with which the latter occurs has never been documented. In this study, we sought to determine the incidence of respiratory symptoms and complaints in patients with achalasia. A comprehensive symptom questionnaire was administered to 110 patients with achalasia presenting to the Swallowing Center at the University of Washington between 1994 and 2008 as part of their preoperative work-up. Questionnaires were analyzed for the frequency of respiratory complaints in addition to the more typical symptoms of dysphagia, regurgitation, and chest pain. Twenty-two achalasia patients with respiratory symptoms who had also undergone Heller myotomy and completed a post-op follow-up questionnaire were analyzed as a subset. Ninety-five patients (86%) complained of at least daily dysphagia. Fifty-one patients (40%) reported the occurrence of at least one respiratory symptom daily, including cough in 41 patients (37%), aspiration (the sensation of inhaling regurgitated esophagogastric material) in 34 patients (31%), hoarseness in 23 patients (21%), wheezing in 17 patients (15%), shortness of breath in 11 patients (10%), and sore throat in 13 patients (12%). Neither age nor gender differed between those with and those without respiratory symptoms. In the subset of patients with respiratory symptoms who had undergone Heller myotomy, respiratory symptoms improved in the majority after the procedure. Patients with achalasia experience respiratory symptoms with much greater frequency than the approximately 10% that was previously believed. Awareness of this association may be important in the workup and ultimate treatment of patients with this uncommon esophageal disorder.
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PMID:Prevalence of respiratory symptoms in patients with achalasia. 2107 19

Allgrove or triple A syndrome (AS or AAA) is a rare autosomal recessive syndrome with variable phenotype due to mutations in AAAS gene which encodes a protein called ALADIN. Generally, it's characterized by of adrenal insufficiency in consequence of adrenocorticotropic hormone (ACTH) resistance, besides of achalasia, and alacrimia. Neurologic features are varied and have been the subject of several case reports and reviews. A few cases of Allgrove syndrome with motor neuron disease have been already described. A 25-year-old white man, at the age of four, presented slowly progressive distal amyotrophy and weakness, autonomic dysfunction, dysphagia and lack of tears. He suffered later of orthostatic hypotension and erectile dysfunction. He presented distal amytrophy in four limbs, tongue myofasiculations, alacrimia, hoarseness and dysphagia due to achalasia. The ENMG showed generalized denervation with normal conduction velocities. Genetic testing revealed 2 known pathogenic variants in the AAAS gene (c.938T>C and c.1144_1147delTCTG). Our case presented a distal spinal amyotrophy with slow evolution and symptoms and signs of AS with a mutation in AAAS gen. Some cases of motor neuron disease, as ours, may be due to AAS. Early diagnosis is extremely important for symptomatic treatment.
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PMID:Allgrove syndrome and motor neuron disease. 3006 87