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)

Despite the extensive impact of autonomic function on the gastrointestinal system, there is little understanding of the mechanisms by which specific autonomic abnormalities translate into particular gastrointestinal complaints. Three logical alternatives include: (1) the underlying disorder affects the autonomic and gastrointestinal systems independently; (2) autonomic dysfunction alters gastrointestinal processing directly; (3) gastrointestinal manifestations arise as a delayed, indirect consequence of autonomic dysfunction. The major gastrointestinal manifestations of dysautonomia include esophageal dysmotility such as achalasia, gastroparesis, and small bowel bacterial overgrowth in the upper tract. Lower tract disorders include diarrhea, fecal incontinence, and constipation. Sorting through the varied causes of these disorders requires a careful history and examination in each patient. Supportive diagnostic studies may include radionuclide imaging, motility examination, and electrogastrography. Autonomic studies can (1) distinguish a purely enteric from a more generalized dysautonomia; (2) provide surrogate information about motility; (3) differentiate primary (e.g., multiple system atrophy) from secondary (e.g., irritable bowel syndrome) dysautonomias as the etiology of gastrointestinal symptoms. Several new strategies are available for the treatment of gastroparesis, constipation, irritable bowel, and sphincteric incontinence.
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PMID:Evaluation and treatment of autonomic disorders of the gastrointestinal tract. 1508 66

A 14-year-old boy presented with regurgitation, malnutrition, and chronic lung insufficiency with a history of successful repair of esophageal atresia and tracheoesophageal fistula in the newborn period. Barium swallow and manometry results showed achalasia. Hellar operation with antireflux procedure resulted in complete symptomatic relief. Histology and immunohistochemistry including PGP9.5, MAP5, cKit, and nNOS of myotomy specimen showed intact innervation. Although esophageal dysmotility after esophageal atresia repair usually is caused by gastroesophageal reflux and incoordination of peristalsis, the possibility of achalasia should also be considered, because a casual relationship between esophageal atresia and achalasia may exist.
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PMID:Esophageal atresia and achalasialike esophageal dysmotility. 1548 12

For the better understanding of esophageal motility, the muscle texture and the distribution of skeletal and smooth muscle fibers in the esophagus are of crucial importance. Esophageal physiology will be shortly mentioned as far as necessary for a comprehensive understanding of peristaltic disturbances. Besides the pure depiction of morphologic criteria, a complete esophageal study has to include an analysis of the motility. New diagnostic tools with reduced radiation for dynamic imaging (digital fluoroscopy, videofluoroscopy) at 4-30 frames/s are available. Radiomanometry is a combination of a functional pressure measurement and a simultaneous dynamic morphologic analysis. Esophageal motility disorders are subdivided by radiologic and manometric criteria into primary, secondary, and nonclassifiable forms. Primary motility disorders of the esophagus are achalasia, diffuse esophageal spasm, nutcracker esophagus, and the hypertonic lower esophageal sphincter. The secondary motility disorders include pseudoachalasia, reflux-associated motility disorders, functionally caused impactions, Boerhaave's syndrome, Chagas'disease, scleroderma, and presbyesophagus. The nonclassificable motility disorders (NEMD) are a very heterogeneous collective.
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PMID:[Esophageal motility disorders]. 1725 14

Motor abnormalities of the oesophagus are characterised by a chronic impairment of the neuromuscular structures that co-ordinate oesophageal function. The best-defined entity is achalasia, which is discussed in a separate chapter. Other motor disorders with clinical relevance include diffuse oesophageal spasm, oesophageal dysmotility associated with scleroderma, and ineffective oesophageal motility. These non-achalasic motor disorders have variable prevalence but they could be associated with invalidating symptoms such as dysphagia, chest pain and gastro-oesophageal reflux disease. New oesophageal diagnostic techniques, including high-resolution manometry, high-frequency intraluminal ultrasound and intraluminal impedance, allow (1) better definition of peristalsis and sphincter function, (2) assessment of changes in oesophageal wall thickness, and (3) evaluation of pressure gradients within the oesophagus and across the sphincters that can produce normal or abnormal patterns of bolus transport. This chapter discusses recent advances in physiology, pathophysiology, diagnosis and treatment of non-achalasic oesophageal motor disorders.
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PMID:Non-achalasic motor disorders of the oesophagus. 1764 2

Down syndrome (DS) is the most common chromosomal abnormality occurring in humans. Up to 77% of DS children have associated gastrointestinal (GI) abnormalities, which may be structural or functional in nature. Functional disturbances may, in turn, affect the outcome of corrective surgical procedures, prompting to caution. It is becoming clear that the processes affecting the enteric nervous system (ENS) in DS not only affect the micro-anatomy but also nerve function, and there is some histological evidence of ENS variations in both human and DS animal models. This suggests that developmental disorders of the ENS are probably fundamental to the functional GI disturbances encountered in patients with DS. The anomalous brain development, function and resulting intellectual impairment associated with DS appears to result from the genetic imbalance created by the trisomy of chromosome 21. The possible links between the brain, GI and ENS involvement are not as yet entirely clear. Neurotropic factors affecting brain development during embryogenesis are probably interlinked with ENS development, but the precise mechanism of how this occurs has yet to be established. This study explores what is known about the ENS dysfunction in DS and reviews the possible importance of chromosome 21 located and other genes in its etiology. Functional motor disturbances of the esophagus and colon are not uncommon and may be congenital or acquired in nature. The most prominent of these include esophageal dysmotility syndromes (e.g. achalasia, gastroesophageal reflux, dysphagia) as well as a higher incidence of chronic constipation and Hirschsprung's disease (HSCR) (2-15%) occurring in association with DS. Chromosome 21 itself is thought to be the site of a modifier gene for HSCR. Recently identified candidate genetic mechanisms provide unique insights into the genetic background of the neurological and cognitive disorders associated with DS. Although the role of the triplicated chromosome 21 and genetic dosage remain important, the additional role of other chromosome 21 genes in the etiology of ENS developmental anomalies remains undetermined and requires ongoing research.
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PMID:Down syndrome and the enteric nervous system. 1863 23

Achalasia is a neurodegenerative condition characterized by esophageal dysmotility and megaesophagus. Two cases are reported that demonstrate unexpected deaths associated with previously unsuspected achalasia. Case 1: A 66-year-old woman was found dead at her home. At autopsy significant stenosing coronary artery atherosclerosis was found with cardiac failure. In addition, a striking finding was narrowing of the distal esophagus with marked proximal dilatation. The esophagus was completely filled with a large amount of soft masticated food and was bulging anteriorly, compressing the left atrium. Death was attributed to ischemic heart disease complicated by previously unsuspected achalasia. Case 2: An 84-year-old man collapsed and suffered a respiratory arrest while eating. Internal examination revealed narrowing of the cardioesophageal junction with marked proximal dilatation of the esophagus that contained approximately 50 mL of soft semi-fluid masticated yellow food paste. Fragments of yellow masticated food remnants were present in upper and lower airways but not within the stomach. There was a history of dementia with symmetrical cerebral ventricular dilatation found at autopsy. Death was attributed to food asphyxia complicating previously unsuspected achalasia with dementia. Megaesophagus may, therefore, be a significant finding at autopsy that may either be a primary cause of unexpected death or else may exacerbate or compound the effects of pre-existing underlying disease.
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PMID:Megaesophagus and possible mechanisms of sudden death. 1901 34

Tracheo-esophageal fistulas (TEF) in adults are very rarely congenital in nature and most of the cases are secondary to neoplastic cause. We report a 26-year-old male with TEF that presented with chronic cough. An x-ray carried out for the patient showed upper lobe bronchiectasis and massive esophageal dilatation. There was no evidence of esophageal malignancy, achalasia, or Chagas' disease. There was no history of trauma, infection, or intervention. The CT demonstrated a small TEF, which was not visualized on esophagogram and confirmed by bronchoscopy. Our case demonstrated that idiopathic, or congenital TEF can be presented in adulthood with esophageal dysmotility and bronchiectasis.
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PMID:Adult congenital tracheo-esophageal fistula with esophageal dysmotility and bronchiectasis. 2138 69

Achalasia, diffuse esophageal spasm, nutcracker esophagus, and the hypertensive lower esophageal sphincter are considered primary esophageal motility disorder. These disorders are characterized by esophageal dysmotility that is responsible for the symptoms. While there is today a reasonable consensus about the pathophysiology, the diagnosis, and the treatment of achalasia, this has not occurred for the other disorders. A careful evaluation is therefore necessary before an operation is considered.
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PMID:Achalasia and other esophageal motility disorders. 2139 46

Esophageal motility disorders are classified primary and secondary, and primary esophageal motility disorders are classified esophageal achalasia and other diseases by manometry. An esophageal emptying disorder associated with insufficient relaxation of the lower esophageal sphincter (LES) and elimination of peristaltic waves on the esophageal body is the major abnormality of achalasia. Esophagogram, endoscopy, and manometry are used for diagnosis. As pharmacological therapy, administration of a calcium channel blocker or nitrate is useful. The pharmacological therapy is not recommended as long-term basic therapy but as a temporary treatment. At 1st, the balloon dilation method is chosen in treatment of achalasia Surgical treatment is indicated in the following cases: (1) Patients uneffected by balloon dilation, (2) Flask type with grade II to III dilation, and sigmoid type, (3) the gradual progression to the pathophysiological stage, (4) young patients, (5) complicated with esophageal cancer. Laparoscopic Heller-Dor procedure is the most popular surgical procedure, recently. It is somewhat difficult to perform surgical treatment for this functional disease. We should select the most suitable individualized treatment with efficient comprehension of the pathophysiological situation.
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PMID:[Primary esophageal motility disorders; especially about esophageal achalasia]. 2191 93

With the development of optics and mechanics, endoscopic technologies are not only used as a simple diagnostic method, but also applied in therapy. Since the beginning of the 21st century, minimally invasive medicine has become the development trend. Many novel technologies have appeared, such as endoscopic mucosal resection, endoscopic submucosal dissection, and peroral endoscopic myotomy. Esophageal motility disorders are common diseases in clinic, which seriously affect the quality of life. Although esophageal manometry is the golden diagnostic standard, endoscopy also plays an important role in diagnosis. There are many therapeutic methods in achalasia and gastroesophageal reflux diseases with good efficacy, while the therapy in other esophageal motility disorders remains in dispute. According to the domestic and foreign research progressions, we introduce the role of endoscopy in the diagnosis and management of esophageal motility disorders.
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PMID:[Endoscopy in the diagnosis and management of esophageal motility disorders]. 2285 Oct 62


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