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)

Achalasia of the oesophagus is an uncommon neuromuscular disorder characterized by symptoms of dysphagia and regurgitation of undigested food. The results of treatment of 43 patients with achalasia over 10 years are presented. Clinical data on presenting complaints and duration, and all subsequent treatments, were recorded. Patients were contacted to assess their current symptomatic status.
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PMID:Achalasia of the oesophagus: results of treatment. 199 84

Achalasia is a neuromuscular disorder of the esophagus with unknown etiology. There have been suggestions that this disorder is immunologically mediated. To examine this possibility, HLA phenotyping was prospectively performed on 40 patients with documented achalasia (24 Caucasian, 16 blacks). Results showed a positive association for the class II HLA antigen, DQw1, with 83% of Caucasians (P less than 0.02) and 86% of blacks having the antigen (NS). The relative risk for developing achalasia with the presence of DQw1 was 4.2 in Caucasians and 3.6 in blacks. A negative correlation for the DRw53 antigen was noted in Caucasian patients with a relative risk of 0.23. These results indicate an immunogenetic association for achalasia and provide insight into the pathogenesis of this disorder.
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PMID:Significant DQw1 association in achalasia. 292 Jun 39

Clinical and pharmacological evidence suggests that several neurotransmitters are involved in the control of the esophageal motility; in fact, besides the well known cholinergic and sympathetic innervation, Vasoactive Intestinal Polypeptide (VIP)-containing fibers as well as dopamine (DA)-containing nerve endings have been identified within the esophageal wall. Lower Esophageal Sphincter (LES) achalasia is a neuromuscular disorder characterized by the absence of peristalsis in the body of the esophagus and by the failure of the LES to relax in response to swallowing. Stimulation of both VIP receptors and D-2 DA receptors induce a decrease in LES pressure, while D-1 receptors mediates LES contractions. In the present study we show that both VIP and DA system is disregulated in LES achalasia. In particular, this disease is associated not only with the lack of VIP nerves in the LES, but also with a failure in the responsiveness of postsynaptic receptors to VIP stimulation. Furthermore, we demonstrate a selective functional loss of the D-2 DA receptor component, without changes in the D-1 DA receptor mediated responses.
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PMID:Different neurotransmitter systems are involved in the development of esophageal achalasia. 861 52

Oropharyngeal dysphagia in adults is secondary to either a structural lesion or neuromuscular disorder of the upper esophageal sphincter. In cricopharyngeal achalasia (incomplete relaxation of the upper esophageal sphincter), the etiology is usually either related to neck surgery or other neuromuscular disorders. We report on a rare case of neuromuscular oropharyngeal dysphagia secondary to bone metastases to the base of the skull. The patient is an 81-year old man with prostate cancer with metastases to the sacrum. A gastroscopy was attempted to discern the etiology of his dysphagia, but the endoscope could not be advanced. A barium swollow showed cricopharyngeal achalasia, and an magnetic resonance image of the brain demonstrated bone destruction to the floor of the left posterior fossa in the region of the jugular foramen and foramen magnum. The bone destruction caused disruption of the glosso-pharyngeal and vagus nerves. Selective radiotherapy resulted in rapid improvement in his symptoms. The primary treatment of cricopharyngeal achalasia is to correct the underlying process, if possible. This case illustrates an unusual presentation of secondary cricopharyngeal achalasia caused by cranial nerve involvement secondary to bone metastases.
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PMID:Neuromuscular oropharyngeal dysphagia secondary to bone metastases. 975 2

Chagas' disease is caused by a parasite, Trypanosoma cruzi, which is widely distributed in South and Central America. Dysautonomias, derangements of sympathetic and parasympathetic nervous system function, are seen fairly often during the chronic course of Chagas' disease. Many infected subjects developed, in the course of the disease, neurogenic cardiomyopathy or digestive damage. Our investigations show the existence of circulating antibodies in Chagas' disease that bind to beta-adrenergic and muscarinic cholinergic receptor (mAChR). The neurotransmitter receptor-autoantibody interaction triggers in the cells intracellular signal transductions that alter the physiological behavior of the target organs, leading to tissue damage. Moreover, the deposit of autoantibodies behaving as agonists induces desensitization and/or down regulation of the receptors. This in turn can lead to a progressive blockade of them with sympathetic and parasympathetic denervation. Using synthetic peptides for immunoblotting and enzyme immunoassay, we demonstrated that these autoantibodies reacted against the second extracellular loop of the human heart beta 1 adrenoceptor and M2 cholinoceptor. Also, the corresponding affinity-purified antipeptide antibodies displayed an agonist-like activity associated with specific receptor activation. A strong association between circulating antipeptide M2 mAChR autoantibodies and the presence of patients' low heart rate variability index, bradycardia and cardiac or esophageal autonomic dysfunction in chronic chagasic patients was verified. This fact make these antipeptide antibodies a proper marker of cardiac neuromyopathy and achalasia.
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PMID:Role of neurotransmitter autoantibodies in the pathogenesis of chagasic peripheral dysautonomia. 1127 Mar 49

Achalasia is an idiopathic neuromuscular disorder of the esophagus which is associated with absence of esophageal peristalsis and incomplete relaxation of a normal or raised lower esophageal sphincter (LES). Dysphagia is the most commonly associated symptom. Conventional therapeutic approaches are directed to reducing LES pressure and include orally-administered smooth muscle relaxants, forceful sphincter dilation with balloon dilators, and open or laparoscopic-assisted myotomy of the LES. Pharmacologic therapies have a low success rate. Forceful dilation has a perforation complication rate of 2% to 5%, and myotomies may precipitate significant gastroesophageal reflux, a complication minimized when a partial fundal wrap is employed simultaneously. In recent years, botulinum toxin, utilized widely as a striated muscle relaxant in managing blepharospasm, anal sphincter spasm, and muscle spasm complicating CVAs, and in smoothening facial wrinkles, has been extended to the management of achalasia on the basis that it impairs smooth muscle responsiveness to acetylcholine. Eighty units of Botox (botulinum toxin) are injected directly into the endoscopically (endoscopic ultrasound techniques may facilitate localization) located LES region (20 units into each of 4 quadrants). Symptom relief lasting 6 months on average is experienced in more than 65% of treated patients, and the complication rate is negligible. This therapeutic option is reserved for patients too ill to undergo any surgical procedure and is most effective when the lower esophageal region is hypertonic.
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PMID:Treatment of achalasia with botulinum A toxin. 1189 30

Dysphagia is a common complaint that always warrants investigation. The patient's history and preliminary testing can help differentiate between the two types of dysphagia: oropharyngeal or esophageal. Specific treatments for either of these types of dysphagia depend on the underlying etiology. Oropharyngeal dysphagia is often associated with a neuromuscular disorder and is treated with swallowing rehabilitation. Esophageal dysphagia is usually due to an anatomic defect or a motility disorder. Anatomic defects can often be corrected with endoscopic or surgical procedures. Motility disorders often benefit from pharmacologic treatment. Achalasia may be corrected with an endoscopic procedure with pneumatic dilation or, more recently, with injection of botulinum toxin.
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PMID:Dysphagia. 1523 99

Achalasia is an incurable neuromuscular disorder of the esophagus, resulting from destruction of the esophageal myenteric plexus. This leads to aperistalsis and failure of the lower esophageal sphincter to relax after swallowing. Symptoms of achalasia are gradual in onset and include dysphagia, regurgitation, and weight loss. Severe malnutrition can ensue. Wernicke's encephalopathy (WE) is a serious, potentially fatal, neurologic disorder caused by thiamine deficiency (vitamin B(1)), classically described as presenting with a triad of ocular abnormalities, ataxia, and confusion. The incidence is uncertain, and many cases likely go unrecognized. It is usually diagnosed in the alcoholic population. We describe its onset after the successful surgical treatment of achalasia.
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PMID:Wernicke's encephalopathy after laparoscopic cardiomyotomy for achalasia. 1759 43

Megaoesophagus, or oesophageal achalasia, is a neuromuscular disorder characterized by an absence of peristalsis and flaccid dilatation of the oesophagus, resulting in the retention of ingesta in the dilated segment. The aetiology and pathogenesis of idiopathic (or primary) megaoesophagus are still poorly understood and very little is known about the genetic causes of megaoesophagus in humans. Attempts to develop animal models of this condition have been largely unsuccessful and although the ICRC/HiCri strain of mice spontaneously develop megaoesophagus, the underlying genetic cause remains unknown. In this report, we show that aged Rassf1a-null mice have an enhanced susceptibility to megaoesophagus compared with wild-type littermates (approximately 20%vs. approximately 2% incidence respectively; P = 0.01). Histological examination of the dilated oesophaguses shows a reduction in the numbers of nerve cells (both ganglia and nerve fibres) in the myenteric plexus of the dilated mid and lower oesophagus that was confirmed by S100 immunohistochemistry. There was also a chronic inflammatory infiltrate and subsequent fibrosis of the myenteric plexus and the muscle layers. These appearances closely mimic the gross and histopathological findings in human cases of megaoesophagus/achalasia, thus demonstrating that this is a representative mouse model of the disease. Thus, we have identified a genetic cause of the development of megaoesophagus/achalasia that could be screened for in patients, and may eventually facilitate the development of therapies that could prevent further progression of the disease once it is diagnosed at an early stage.
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PMID:Megaoesophagus in Rassf1a-null mice. 1933 48

Achalasia cardia is defined as a neuromuscular disorder of the oesophagus with abnormal motility and failure of relaxation of the distal oesophagus. It is an uncommon but well-recognised entity in infants and children. However, achalasia in a preterm baby has not been previously described. We report the condition in a premature infant with unusual presentation, treated successfully with Heller's oesophagomyotomy and fundoplication.
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PMID:Achalasia cardia in a premature infant. 2279 55


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