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)

In this article, the diagnosis and treatment of gastroesophageal reflux (GER), esophageal primary dysmotilities, and esophageal infections were reviewed. Important systemic diseases, including endocrine, neurologic, and collagen vascular types, that affect the esophagus were discussed. Finally, theoretical mechanisms of aspiration and possible reflex bronchoconstriction secondary to GER have been reviewed. What is needed are further controlled studies of medications to treat GER, achalasia, and diffuse esophageal spasm (DES) with side effects safe enough, and efficacy strong enough, to permit patient acceptance and FDA approval for esophageal purposes.
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PMID:Swallowing disorders. Diagnosis and medical treatment. 305 19

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

Oesophageal motility disorders comprise various abnormal manometric patterns which usually present with dysphagia or chest pain. Some, such as achalasia, are diseases with a well defined pathology, characteristic manometric features, and good response to treatments directed at the pathophysiological abnormalities. Other disorders, such as diffuse oesophageal spasm and hypercontracting oesophagus, have no well defined pathology and could represent a range of motility changes associated with subtle neuropathic changes, gastro-oesophageal reflux, and anxiety states. Although manometric patterns have been defined for these disorders, the relation with symptoms is poorly defined and the response to medical or surgical therapy unpredictable. Hypocontracting oesophagus is generally caused by weak musculature commonly associated with gastro-oesophageal reflux disease. Secondary oesophageal motility disorders can be caused by collagen vascular diseases, diabetes, Chagas' disease, amyloidosis, alcoholism, myxo-oedema, multiple sclerosis, idiopathic pseudo-obstruction, or the ageing process.
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PMID:Oesophageal motility disorders. 1180 95

Actually, achalasia can be defined as a primary esophageal motor disorder characterized by esophageal aperistalsis and abnormal post-deglutitive lower esophageal sphincter (LES) relaxation. Its incidence varies from 0.03 to 1.63 cases per 100,000 people per year and increases with age, while the prevalence is almost 10/100,000 with no difference between the sexes. Regarding etiology, the most frequent histologic alteration is represented by the loss of the myenteric nerve fibers regulating inhibitory nitrergic neurotransmission in the LES, with the presence of a lymphocytic infiltrate and collagen deposition. The cause of this loss remains unclear. Among the theories proposed, the infectious, hereditary and autoimmune etiologies have been widely investigated. The only infectious agent identified as a cause of achalasia is Trypanosoma Cruzi, responsible of Chagas' disease. Regarding hereditary component, in rare cases achalasia presents as part of a genetic syndrome such as Down syndrome, Allgrove syndrome and familial visceral neuropathy. Although, no disease-specific gene has been identified. The autoimmune hypothesis has focused on the association of specific HLA classes with achalasia. However, no consistent association has been observed across studies. Despite increasing understanding of the physiopathology of achalasia, its etiology remains largely unknown. The onset of the disease is characterized by chronic inflammation of the myenteric plexus of the esophagus secondary to an environmental insult. Probably, genetic factors are involved in the development of achalasia, although the precise molecular basis of the disease has not been identified.
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PMID:Definition, incidence and etiology: what's new in the 21st century? 2414 Nov 99

Osteogenesis imperfecta (OI) is a rare, inherited skeletal disorder characterized by abnormalities of type 1 collagen. Malignancy is rarely reported in patients with OI and it was suggested that this disease can protect against cancer. Here, we report a 41-year-old woman with symptoms of achalasia where repeated treatment of pneumatic dilation and stent replacement was unsuccessful; therefore, surgery was performed. Pathology showed gastric adenocarcinoma unexpectedly. Chemotherapy was given after assessing dihydropyrimidine dehydrogenase (DPD) enzyme activity, which can be deficient in OI patients. This is the first report of gastric cancer mimicking achalasia in a patient with OI.
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PMID:Osteogenesis imperfecta, pseudoachalasia, and gastric cancer. 2587 39