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)

The Nissen fundoplication, and in particular the laparoscopic Nissen fundoplication, has received widespread acceptance as the most definitive therapy for gastroesophageal reflux disease. There remains, however, certain patients who do better with a less aggressive surgical augmentation of the lower esophageal sphincter. Partial fundoplications originated in the early 1960s as an alternative procedure to the Nissen, which was associated with moderately high rates of postoperative side effects. These "more physiologic" procedures have proved successful in the treatment of reflux disease in patients with poor or no esophageal motility. In particular, the use of partial fundoplications in association with Heller's myotomy for achalasia has been demonstrated to be well tolerated and to reduce the risk of late dysphasia resulting from uncontrolled gastroesophageal reflux (GER). The use of partial fundoplications in GER patients with normal motility, however, has been less successful. High recurrence rates are documented by many centers with the main cause appearing to be related to a less competent neo-lower esophageal sphincter and a higher rate of wrap herniation. This has led to the current practice of a "tailored approach" to reflux disease, in which all patients receive a thorough preoperative physiologic evaluation to determine the best antireflux procedure for the individual. This is generally a Nissen repair for those with normal motility and either an extrashort "floppy" Nissen or a partial wrap for those with impaired peristalsis.
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PMID:Partial fundoplications for gastroesophageal reflux disease: indications and current status. 1047 71

A 52-year-old man developed achalasia and a lung abscess due to aspiration pneumonia. We conducted a right upper lobectomy by thoracotomy for the abscess and, 2 weeks later, video-assisted thoracoscopic myotomy and fundoplication (modified Belsey Mark IV procedure) though the left thorax for achalasia. Three months after surgery, the patient was free of dysphasia and chest pain and had regained his original weight. Esophageal myotomy and fundoplication using video-assisted thoracoscopy appear to be feasible in treating achalasia involving impaired pulmonary function.
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PMID:Video-assisted thoracoscopic esophagomyotomy for achalasia after pulmonary lobectomy. 1061 1

Minimal invasive surgery using a laparoscopic or thoracoscopic approach for cardiomyotomy (Heller myotomy) has become a widely accepted procedure to treat achalasia of the esophagus. In this study, we evaluated the long-term results of Heller myotomy achieved by performing video-assisted thoracic surgery (VATS). We recruited patients with achalasia who had undergone VATS for Heller myotomy from 1991 to 2000 at the National Taiwan University Hospital. The myotomy was performed 6 cm above and 1 cm below the gastroesophageal junction. No fundoplication was performed during the procedure. The symptom score, which included dysphagia, regurgitation, and chest pain, was evaluated before and after surgery. Body weight was also recorded before and after surgery. The cases of 14 patients (4 men, 10 women) were studied. The mean patient age was 41.8 +/- 4.9 years. No postoperative mortality or morbidity was found in these patients. The follow-up duration was 56 +/- 7.17 months. The dysphasia score improved from 3.0 preoperatively to 0.79 +/- 0.30 postoperatively (p=0.001). The reflux score improved from 2.64 +/- 0.17 preoperatively to 0.50 +/- 0.20 postoperatively (p=0.001). All the improvements were still in place at the time of the most recent follow-up examinations. Heller myotomy to treat achalasia using a thoracoscopic approach can provide satisfactory long-term results.
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PMID:Enduring effects of thoracoscopic Heller myotomy for treating achalasia. 1464 47

Allgrove syndrome is a rare autosomal recessive disorder characterized by the triad of adrenal insufficiency, achalasia and alacrima. This syndrome, also known as triple A syndrome, is now known to be caused by mutations in the AAAS gene. In the present study, we report two new patients of Allgrove syndrome with mutations in the AAAS gene. Patient 1 was a 22-year-old Japanese woman, born to consanguineous parents. She was confirmed to have adrenal insufficiency at the age of 3 years and 6 months. She developed alacrima and bilateral optic nerve atrophy at the age of 8 years. She had been noticed to have dysphagia. Based on these findings, she was diagnosed as having Allgrove syndrome. Mutation analysis revealed a novel homozygous point mutation in exon 7 of her AAAS gene, changing codon 194 encoding Arg (CGA) to a stop codon (TGA) (R194X). Patient 2 was a 7-year-old Japanese boy, born to consanguineous parents. At the age of 1 year, he was noticed to be unable to produce tears. He was confirmed to have adrenal insufficiency, mental retardation and spastic diplegia at the age of 5 years and 4 months. He was tentatively diagnosed as having Allgrove syndrome, although he has never complained of dysphasia. Mutation analysis revealed a homozygous point mutation in exon 4 of his AAAS gene, changing codon 119 encoding Arg (CGA) to a stop codon (TGA) (R119X). Both of the R119X and R194X mutations are predicted to result in truncated and non-functioning ALADIN proteins, and thus the diagnosis of Allgrove syndrome was confirmed by the mutation analyses. These findings indicate that there exist significant clinical variability and mutational heterogeneities in Japanese patients with this syndrome.
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PMID:Two cases of Allgrove syndrome with mutations in the AAAS gene. 1551 81

Megaoesophagus resulting from achalasia is a rare but serious cause of airway obstruction. The exact aetiology remains unclear. Achalasia normally presents as weight loss, dysphasia and regurgitation but frequently considerable oesophageal distension can occur without complain and very rarely cause of achalasia presents with stridor or respiratory distress. The authors presents a 19 -year old young lady who had respiratory symptoms and had been treated as a cause of chronic asthma, was found by us to have oesophagus achalasia. She had complained of cough, dispneia and had a pulmonary function studies that showed a severe airway obstruction. After surgery the symptoms disappeared and she had a marked improvement in the flow-volume curve. Oesophagus achalasia should be considered as one of the differential diagnoses of airway obstruction.
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PMID:[Oesophagus achalasia: differencial diagnosis of asthma]. 1836 27

The cases were a 64-year-old man and a 57-year-old woman both with discomfort and dysphasia. They were given a diagnosis of esophageal achalasia after gastrointestinal endoscopy, barium esophagography and esophageal internal pressure tests. Their symptoms were dramatically improved by localized botulinum toxin injections, which were commonly available in the US. The localized botulinum toxin injection treatment is safe and minimally invasive with few complications. It is effective to reduce symptoms in esophageal achalasia.
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PMID:[Two cases of esophageal achalasia, in which localized botulinum toxin injections were effective to improve symptoms]. 2041 27