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 present study was carried out to evaluate the diagnostic usefulness of stationary esophageal manometry in 263 patients divided into three groups: 150 patients with reflux symptoms, 68 with dysphagia, and 45 with non-cardiac chest pain. Patients with endoscopic abnormalities were excluded. Standard manometry was performed following the station pull-through technique. In the group of patients with reflux symptoms 40.7% had a normal manometry and 57.3% had abnormalities, being the most frequent (43%) hypotensive lower esophageal sphincter. In the dysphagia group, 20.6% of manometries were normal and 79.4% were abnormal, of which achalasia was the most frequent disorder (53.7%). In the case of non-cardiac chest pain, 42.2% of patients had a normal manometry and 57.8% an abnormal one, of which hypotensive lower esophageal sphincter was the most frequent abnormality. A significant higher proportion of manometric alterations were found in the dysphagia group compared to reflux symptoms and non-cardiac chest pain (p < 0.05). No statistical differences were found between the reflux and the non-cardiac chest pain groups. Manometry yields a higher diagnostic value in patients with dysphagia, and therefore manometry should be performed routinely after the exclusion of any organic esophageal disease. Manometry is not a first-choice functional diagnostic test in the study of patirnts with gastroesophageal reflux or non-cardiac chest pain.
Rev Esp Enferm Dig 2004 Sep
PMID:Role of stationary esophageal manometry in clinical practice. Manometric results in patients with gastroesophageal reflux, dysphagia or non-cardiac chest pain. 1550 2

Acute airway obstruction from mega-esophagus is an extremely rare presentation of achalasia. We present the case of an 82-year-old woman without previously diagnosed achalasia who presented with shortness of breath. Her respiratory status deteriorated rapidly, with development of stridor. Prompt nasogastric tube placement decompressed the dilated esophagus and relieved airway obstruction. This case illustrates an unusual presentation of achalasia and underscores the need for emergent life-saving esophageal decompression. Hypotheses regarding the mechanism of airway compromise as well as treatment options are reviewed.
MedGenMed 2004 Sep 21
PMID:Life-threatening acute airway obstruction in achalasia. 1552 Jun 35

Familial visceral neuropathy (FVN) is a heterogeneous group of disorders due to abnormalities of the myenteric plexus. FVN with neuronal intranuclear inclusions is one particular form of FVN with a variable phenotype that includes achalasia, gastro-esophageal reflux, intestinal dysmotility and pseudo-obstruction, dysarthria, peripheral neuropathy and pupillary defects, and the presence of intranuclear inclusions within the neurons of the enteric nervous system. We present a four-generation family in which 10 individuals (7 of whom have been examined) are affected with FVN. The family was previously reported as familial esophageal achalasia, an autosomal recessive condition (MIM200400). At that time, several individuals in a single sibship were affected and there were no manifestations in either parent. Since that report, two individuals have had affected children and the mother has developed symptoms and has abnormalities on electromyography, thus enabling us to reclassify the family. This family provides further evidence of autosomal dominant inheritance, with marked variation in expression.
Am J Med Genet A 2005 Sep 01
PMID:Familial visceral neuropathy: a defined entity? 1608 14

Triple A syndrome (AAAS, OMIM#231550) is an autosomal recessive condition characterized by adrenal insufficiency, achalasia, alacrima, neurodegeneration and autonomic dysfunction. Mutations in the AAAS gene on chromosome 12q13 have been reported in several subjects with AAAS. Over the last 5 years, we have evaluated six subjects with the clinical diagnosis of AAAS. Three subjects had mutations in the AAAS gene-- including one novel mutation (IVS8+1 G>A)-- and a broad spectrum of clinical presentations. However, three subjects with classic AAAS did not have mutations in the AAAS gene on both alleles. This finding supports the notion of genetic heterogeneity for this disorder, although other genetic mechanisms cannot be excluded.
Clin Genet 2005 Sep
PMID:Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000-2005. 1609 9

Diffuse esophageal spasm (DES) and achalasia share both clinical and manometric characteristics. Some reports support the notion of progression of DES to achalasia. However, there are currently no prospective data in support of this theory. To assess prospectively the rate of manometric progression of DES to achalasia. Manometry tracings of DES patients diagnosed between 1992 and 2003 were independently reviewed blindly and agreed on by two esophageal experts. Patients with DES who agreed to undergo repeat esophageal manometry constituted the study cohort. Follow-up manometry tracings were evaluated blindly and independently by the same two interpreters to determine the rate of manometric progression to achalasia. Predictors of manometric progression were assessed. A total of 32 patients were diagnosed with DES between 1992-2003. Twelve patients (9M/3F; median age 62 years) agreed to participate and underwent second manometry (mean +/- SD follow-up of 4.8 +/- 3.4 years). Achalasia was diagnosed on follow-up manometry in one patient (8%), seven (58%) patients continued to have DES, three (25%) had normal motility, and one (8%) had nutcracker esophagus. There were no predictors of progression to achalasia based on the initial manometry parameters. A subgroup of DES patients with initial low esophageal body amplitude developed increase in esophageal simultaneous contractions on follow-up similar to the patient who evolved to achalasia. Following were the results. 1) Progression from DES to achalasia is uncommon. 2) DES patients with low esophageal body amplitude may develop increased simultaneous contractions over time. 3) DES remains an elusive diagnosis clinically and manometrically.
Dig Dis Sci 2005 Sep
PMID:Does diffuse esophageal spasm progress to achalasia? A prospective cohort study. 1613 57

A 55-year-old man was admitted to the Department of Internal Medicine of our hospital with chief complaints of fever, cough, and right-sided chest pain. Plain radiography of the chest revealed widening of the mediastinum (attributed to esophageal achalasia), pneumonia, and right pleural effusion. According to the properties of the pleural fluid, empyema was diagnosed. Because the empyema was resistant to antibiotic treatment and was in the fibrinopurulent stage, it could not be drained effectively. Therefore, after treatment of the esophageal achalasia by balloon dilatation of the lower esophagus, the empyema was treated by video-assisted thoracoscopic surgery, i.e., by video-assisted thoracoscopic drainage and curettage of the empyema cavity, under local anesthesia.
Tokai J Exp Clin Med 2005 Sep
PMID:Video-assisted thoracoscopic surgery under local anesthesia for right empyema secondary to aspiration pneumonia caused by esophageal achalasia: case report. 1628 10

The association between non-tuberculous mycobacterial pulmonary disease and achalasia, although previously documented in the respiratory literature, is not well recognised generally. We present a case of a female who presents with weight loss, cough and radiological findings of aspiration pneumonia and achalasia. A discussion of mechanisms for this association are presented.
Respir Med 2006 Sep
PMID:Non-tuberculous mycobacteria masquerading as aspiration pneumonia in patients with gastrointestinal problems. 1650 97

The aim of this paper was to assess the diagnostic value of magnetic resonance (MR) fluoroscopy in the study of oesophageal motility disorders and to compare MR fluoroscopy results with those of manometry and barium contrast radiography. Twenty-five subjects referred for dysphagia and three patients in follow-up after pneumatic dilatation of the lower oesophageal sphincter to treat severe achalasia underwent esophageal manometry, barium contrast radiography and MR fluoroscopy. Examinations were performed on a 1.5 T scanner. Dynamic turbo- fast low angle shot (turbo-FLASH) sequences acquired during oral contrast agent administration were used to perform MR fluoroscopy. MR fluoroscopy correctly diagnosed achalasia in nine patients, uncoordination of esophageal body motility in ten and scleroderma oesophagus in one. Diagnostic performance was satisfactory, with a sensitivity of 87.5% and a specificity of 100% in the general depiction of motility alterations. Our work demonstrates that MR fluoroscopic examination in subject affected by oesophageal motility disorders is feasible and can properly depict motility and morphology alterations, achieving correct diagnosis in the majority of cases. Studies on larger populations are necessary to obtain statistically significant results.
Eur Radiol 2006 Sep
PMID:Initial experience with magnetic resonance fluoroscopy in the evaluation of oesophageal motility disorders. Comparison with manometry and barium fluoroscopy. 1663 96

Esophageal achalasia is an infrequent motility disorder characterized by a progressive stasis and dilation of the oesophagus; with subsequent risk of aspiration, weight loss, and malnutrition. Although the treatment of achalasia has been traditionally based on a surgical approach, especially with the introduction of laparoscopic techniques, there is still some space for a medical approach. The present article reviews the non-surgical therapeutic options for achalasia.
World J Gastroenterol 2006 Sep 28
PMID:Non-surgical treatment of esophageal achalasia. 1700 39

Esophageal myotomy is the standard primary therapy for achalasia. However, reports on long-term results of myotomy have suggested a deterioration of outcome over time with many patients presenting with end stage disease several years after esophagomyotomy. Eight patients who had previously undergone esophagomyotomy for achalasia presented with recurrent or worsening symptoms, and after preoperative evaluation, were treated by esophagectomy via laparotomy and right thoracotomy. The mean age at the time of myotomy was 52 years (range 18 to 62 years), and the mean time until esophagectomy was 12.5 years (range 2 to 18 years) after the initial myotomy. The median time until esophagectomy was performed after myotomy was 14 years. All patients in this series gained weight (mean, 23 pounds; range, 9 to 42 lbs) following esophagectomy, and none of the patients complained of dysphagia at follow-up or developed stricture. There were no major complications (including anastomotic leak) or deaths in this series. Five of the patients have been followed a mean of six years and remain well. Esophagectomy is a safe and appropriate treatment option in the setting of recurrent and end stage achalasia.
J Gastrointest Surg 2007 Sep
PMID:Esophagectomy for end stage achalasia. 1762 58


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