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)

Inborn errors of colorectal innervation can be classified in four different forms: 1. Aganglionosis (including total aganglionosis of the colon, Hirschsprung's disease, ultrashort Hirschsprung's segment and neurogenic sphincter achalasia) 2. Hypoganglionosis 3. Congenital malformation of sympathetic innervation of the colon (Neuronal Intestinal Dysplasia Typ A or NID A) 4. Congenital malformation of the submucous plexus (Neuronal Intestional Dysplasia Typ B or NID B). We find in 52.2% of our biopsies with a characteristic malformation of the colorectal innervation an aganglionosis. 40.6% are malformations of the submucous plexus (NID B). Half of the cases with Hirschsprung's disease are combined with NID B. 5.0% of the classified colorectal malformations of the innervation are a hypoganglionosis and 2.2% a NID A. An additional half of our biopsies cannot be introduced into the above given classification due to moderate malformations of the colorectal innervation (mild dysganglionosis, hypogenetic nerve cells of the submucous plexus, heterotopic nerve cells of the submucous and myenteric plexus).
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PMID:[Classification of malformations of colorectal innervation]. 172 47

In geographic areas where there is a high risk of esophageal cancer, analysis of cells obtained from the esophagus has been used effectively to detect early lesions. This has been demonstrated on a large scale in studies from China. Using abrasive balloon cytology techniques, 75% of the cancers detected were early lesions, where the 5-year survival after resection was in the range of 90%. Endoscopic followup studies indicate that dysplastic changes in the esophageal mucosa are a common precursor to malignancy. In many cases, the time course from dysplasia to carcinoma in situ to early invasive cancer may take place over many years, allowing a reasonable amount of time for screening. In low-incidence areas, such as the United States, most esophageal cancers are related to the excessive use of tobacco and alcohol. These factors are too common and the incidence of the disease too low, however, to justify screening on this basis. There are smaller groups at higher risk where selective screening by endoscopy with cytology and biopsy is recommended, usually every 1 to 3 years. These include patients with longstanding achalasia, lye strictures, and Plummer- Vinson syndrome. Patients with cancers of the head and neck region and patients with celiac disease may also be considered to be at increased risk. Tylosis is a rare inherited disease with a very high risk of esophageal cancer. There is an increased incidence of adenocarcinoma of the esophagus with Barrett's epithelium, and once identified such patients should be kept under endoscopic surveillance. The finding of severe dysplasia in any of these groups would indicate a shorter screening interval. Most patients with symptoms referable to the esophagus are first tested by barium esophagram. If negative, with persistent symptoms or if a suspicious lesion is identified, endoscopy with cytology and biopsy is recommended. Staging of the cancer is based on the size of the cancer both longitudinally and circumferentially and the presence of extraesophageal spread. At the present time, CT is the best noninvasive method for judging the extent of the cancer. Performance and nutritional status are also determinants of prognosis and should be considered in planning treatment.
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PMID:Screening diagnosis and staging of esophageal cancer. 672 90

Three patients who were 8 to 30 years status postmyotomy for achalasia were shown to develop Barrett's columnar metaplasia of the esophagus. In one instance, the patient had multiple areas of severe dysplasia to carcinoma in situ. There have been only a few reports in the world literature of Barrett's metaplasia occurring in postmyotomy achalasia patients. Our experience would indicate it may be a more common complication than previously appreciated. Also, a possible causal relationship between surgical intervention, Barrett's epithelium, and adenocarcinoma in achalasia is suggested.
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PMID:Barrett's metaplasia and dysplasia in postmyotomy achalasia patients. 684 1

Ectodermal dysplasia syndrome (EDS) is a rare hereditary disease, with symptoms brought about by dysplasia of ectodermal tissue (such as skin, teeth, nails, and hair). This report details the cases of two siblings (41 and 43 year old sisters) with autosomal recessive and hydrotic EDS complicated by esophageal achalasia, postoperative stenosis of esophagus, true keloids, renovascular hypertension, incomplete malrotation of the bowel, and demyelination of the brain.
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PMID:Ectodermal dysplasia syndrome in siblings with true keloids, stenosis of the esophagus after operations for congenital achalasia and renovascular hypertension due to stenosis of renal artery. 764 11

Although the risk of cancer is increased in patients with achalasia, biomarkers of an increased cancer risk have not been evaluated. In an esophagectomy specimen of a patient with achalasia-associated squamous cell carcinoma, normal mucosal and carcinomatous samples were systematically taken for flow cytometry and histology. The distribution of DNA aneuploidy and dysplasia was mapped within the resected specimen. Four of 10 tumor samples and 4 of 16 normal mucosal samples of the esophagus showed additional aneuploid stem lines. Gastric mucosa only showed diploid DNA histograms. S-phase fraction in normal esophageal samples (7.8% +/- 1.1%) was lower than in dysplastic and carcinomatous samples (8.8% +/- 2.4%; P = NS). Areas of mild to moderate dysplasia were detected in the esophageal mucosa adjacent to the neoplasm. This report shows the potential applicability of flow cytometry in the surveillance of patients with achalasia. However, prospective endoscopic studies with long follow-up periods are required before flow cytometric and histological parameters can be used as biomarkers of an increased cancer risk in achalasia.
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PMID:Achalasia-associated squamous cell carcinoma of the esophagus: flow-cytometric and histological evaluation. 783 97

Achalasia is characterized by failure of relaxation of the lower esophageal sphincter and absence of progressive peristalsis in the esophageal body. Few data are available regarding the morphologic features of achalasia, in particular its histologic progression. The esophagi of 42 patients with achalasia treated with total thoracic esophagectomy were examined histologically in order to systematically identify morphologic features of clinically unresponsive achalasia and to determine what could be learned about the disease's evolution. In all cases, myenteric ganglion cells within the esophageal body were markedly diminished, with 20 specimens having none. Twenty specimens had residual ganglion cells in the proximal esophagus, and 15 specimens had a few randomly distributed ganglion cells in the mid- and distal portions of the esophagus. Inflammation within myenteric nerves, present in all cases, generally consisted of a mixture of lymphocytes and eosinophils, occasionally with plasma and mast cells. Focal replacement of myenteric nerves by collagen occurred in all cases, and there was almost complete replacement in several cases. Actual destruction of the residual ganglion cells was not seen. The resected esophagi also shared extramyenteric morphologic features. Some features probably stemmed from physiologic obstruction, such as muscular hypertrophy, mainly of the muscularis propria (all cases), with secondary degeneration and fibrosis (29 cases), and eosinophilia of the muscularis propria (22 cases). Other changes, probably resulting from chronic stasis of ingested materials in the lumen, included diffuse squamous hyperplasia (all cases), lymphocytic mucosal esophagitis (28 cases), lymphocytic inflammation of the lamina propria and submucosa with prominent germinal centers (all cases), and submucosal periductal or glandular inflammation with complete loss of submucosal glands in half of the cases. One patient had high-grade squamous dysplasia, and another had superficially invasive squamous cell carcinoma. A third group of changes was probably due to previous esophagomyotomy, including abnormal gastroesophageal reflux, as shown by pH reflux testing (13 cases) and Barrett's mucosa (four cases). In one case of Barrett's there was low-grade dysplasia. Clinically unresponsive, surgically resected achalasia has almost total loss of ganglion cells, and widespread destruction of myenteric nerves has already occurred. The only active component is myenteric inflammation. However, it cannot be determined whether this inflammation is a manifestation of ongoing nerve destruction or whether it is a secondary phenomenon.
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PMID:Achalasia. A morphologic study of 42 resected specimens. 814 27

The morphology of the intrinsic innervation of internal anal sphincter (IAS) in Hirschsprung's disease (HSCR) and allied disorders has not been clearly defined. At the time of IAS myectomy, specimens of the IAS were taken from four patients with HSCR, five patients with intestinal neuronal dysplasia (IND), five patients with IAS achalasia, and two patients with hypoganglionosis. Specimens also were taken from five normal controls. The specimens were examined using neural cell adhesion molecule (NCAM) immunohistochemistry, NADPH-diaphorase histochemistry, and acetylcholinesterase (AChE) histochemistry. The number of AChE-positive nerve fibers was markedly increased in the IAS of patients with HSCR, IND, and IAS achalasia compared with controls. NCAM and NADPH-diaphorase activity was absent or markedly reduced in the IAS of patients with HSCR, IND, and IAS achalasia. The IAS of patients with hypoganglionosis show markedly reduced NCAM and NADPH-diaphorase activity and occasional AChE-positive nerve fibers. These findings show that patients with HSCR, IND, hypoganglionosis, or IAS achalasia have abnormal innervation of the IAS and this may contribute to disturbances in gut motility in these conditions.
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PMID:Abnormal internal anal sphincter innervation in patients with Hirschsprung's disease and allied disorders. 878 6

There are many clinical conditions that resemble Hirschsprung's disease despite the presence of ganglia cells on rectal biopsy. This group has focused its research interest into delineating variant Hirschsprung's disease based on specific histochemical, immunohistochemical, silver staining and electron microscopic studies. Between 1981 and 1996, full thickness rectal biopsy or resected surgical specimens from 66 patients with clinical symptoms suggesting Hirschsprung's disease were examined. Various functional bowel disorders diagnosed using different histological techniques included, intestinal neuronal dysplasia in 23, hypoganglionosis in 6, immature ganglia in 4, absence of argyrophil plexus in 3, internal sphincter achalasia in 15, and smooth muscle disorders in 15. The findings suggest the following: (1) Clinical conditions resembling Hirschsprung's disease despite the presence of ganglia cells on suction rectal biopsy can be diagnosed by providing an adequate biopsy and employing a variety of histological techniques. (2) Intestinal neuronal dysplasia (IND) is a distinct clinical entity that can be clearly proven histologically. Patients with IND not only have abnormalities of submucosal and myenteric plexuses but also defective innervation of the muscle and neuromuscular junction as well as the internal sphincter. (3) Internal sphincter achalasia, which is histologically characterized by nitregeric nerve depletion, can be diagnosed on anorectal manometry and successfully treated by internal sphincter myectomy. (4) The outcome of smooth muscle disorders is generally fatal. The need for surgical intervention should be weighed carefully and individualized because most operations have not been helpful and are probably not necessary.
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PMID:Variant Hirschsprung's disease. 904 13

Achalasia of the esophagus is a benign disease caused by dyskinesia of the lower esophagus and cardia and is presumed to be a premalignant lesion leading to an increased risk of squamous cell carcinoma. We analyzed six surgically or endoscopically resected carcinomas among 54 cases of esophageal achalasia using histological and immunohistochemical procedures. The mean interval between the diagnosis of achalasia and carcinoma was 21.5 years. Four of the six cases were superficial early-stage cancers whilst the other two were advanced cancers invading the adventitia. Histological mapping of the resected esophageal specimens demonstrated marked hyperplastic changes of stratified squamous epithelium and multiple foci of dysplastic changes. The squamous cell carcinomas showed well-differentiated type with low-grade atypia, closely associated with dysplastic foci. Immunohistochemical staining for p53, p21, p16 and epidermal growth factor receptor suggested that the dysplastic epithelium was a borderline lesion between hyperplasia and in situ carcinoma. Our observations suggested that esophageal food stasis induces chronic hyperplastic esophagitis and eventually malignant transformation of esophageal epithelial cells, associated with dysplasia-carcinoma sequence.
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PMID:Clinicopathological studies of esophageal carcinoma in achalasia: analyses of carcinogenesis using histological and immunohistochemical procedures. 1126 44

Squamous cell cancer is the most common neoplasm of the oesophagus worldwide, with an enormous variation in its global incidence. Several risk factors, such as achalasia, Plummer-Vinson syndrome, coeliac disease and nutritional factors, have been identified. The surveillance of patients, especially those with tylosis or caustic ingestion, has been recommended. Vital staining with iodine may improve the diagnosis of early cancer. The endoscopic management of early cancer and dysplasia by minimal invasive techniques such as photodynamic therapy or mucosal resection has become attractive for many of these patients with co-morbidity.
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PMID:Squamous cell cancer of the oesophagus. 1135 14


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