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 authors report two observations of monstrous ectasia of the prostatic urethra, in boys age 12, without any previous pathological history; discovered on at the time of major dysuria previous urinary troubles with chronic retention of 500 cl and 1.250 l respectively. In the absence of any organic obstacle, etiology relieves functional troubles. If functional explorations show a normal or hypertensive detrusor, then they discuss the possibility of vesico-sphincter dyssynergia or an obvious hypertension of the striated sphincter. From this moment onwards, purely intrinsic urethral functional trouble is plausible, all the more because the recovery was assured by treatments directed only at the urinary canal. In the first case, after surgical treatment owing to complex lesions (plastic reduction of the urethral ectasia preserving the posterior wall and respecting the striated sphincter) combined with diverticulectomies with urethral reimplantations), the patient recovered complete vesical waste removal at once, with normalisation of the flowmeter in six months. In the second case, a simpler treatment (sub-montanal urethrotomy of the principle) allowed a normalisation period of 10 months with complete vesical waste removal. The functional results are maintained after a period of nine and two years respectively. The integrity of the striated sphincter controlled post-operatively by the operatory gesture on the urinary canal and confronts the authors in the idea of intrinsic urethral pathology, although electronic microscopic examination may not have shown achalasia.
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PMID:[Junctional syndrome responsible for prostatic urethral dilatation: a new pathological entity?]. 237 31

Clinical uses of calcium channel blockers are expanding. In addition to the established uses in patients with arrhythmias, angina pectoris or hypertension, newer and to some extent investigational uses indicate widespread application. For instance, their use has been reported in hypertrophic cardiomyopathy and cold cardioplegia, as well as in pulmonary hypertension, antiplatelet therapy, asthma, achalasia and oesophageal spasm, increased intraocular pressure and in cerebral vasospasm. Their use in obstetrical practice has been proposed. Thus, the presentation of a patient who is treated with calcium channel blockers and who requires anaesthesia will become more common. Calcium channel blockers may, under certain circumstances, potentiate haemodynamic and MAC depressive effects of inhalation agents. There is also evidence that the effects of neuromuscular blocking agents may be potentiated. The anaesthetist should be aware that the potential for interactions exists with digoxin, propranolol, quinidine, theophylline or dantrolene. Of interest and some significance are the anaesthetic implications of pathophysiological alterations that can be induced by calcium channel blockers, by affecting lower oesophageal tone, intracranial hypertension, bronchomotor tone (asthma), muscular dystrophy, neuromuscular function, hypoxic pulmonary vasoconstriction, malignant hyperthermia, inhibition of platelet aggregation and hyperkalemia. Despite these significant potential anaesthetic implications and because, at this time, in some instances withdrawal has clearly demonstrated increase in the signs of myocardial ischaemia, it would not seem necessary to recommend preoperative discontinuation of calcium channel blocker medication in patients presenting for anaesthesia. It is, however, appropriate that there is a high index of awareness of potential problems, unless there is some modification in inhalation anaesthetic concentrations and neuromuscular blocker dosage. Monitoring of cardiovascular and neuromuscular functions is essential. Calcium channel blockers would appear to be currently the drugs of choice for angina pectoris, arrhythmias or hypertension in patients with associated chronic obstructive pulmonary disease.
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PMID:Anaesthetic implications of calcium channel blockers. 286 80

The excellent safety and predictable efficacy of isosorbide dinitrate (ISDN) have been demonstrated repeatedly during the past 25 years in a number of studies in which the agent has been used alone or in combination with other antianginal agents. Clinical studies to investigate the additive or synergistic effect of ISDN have been difficult to conduct because of the complexity of protocol design and length of studies required. However, combination therapy is well accepted in the clinical practice of medicine and cardiology and is used to obtain additive therapeutic effects while minimizing the side effects. The addition of ISDN not only to other standard and proven antianginal agents but also to calcium antagonists should prove to be a fruitful area for further clinical research benefiting patients with angina pectoris (caused by either coronary artery spasm or occlusive coronary artery disease), hypertension, and congestive heart failure. Noncardiovascular uses of ISDN may include the treatment of hyperspasticity of other smooth muscle beds, such as esophageal spasm and achalasia.
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PMID:Combination therapy with isosorbide dinitrate: current status and the future. 389 82

Drugs which interfere with the voltage-activated inward displacement of calcium ions into excitable cells, including those of the myocardium, atrial and ventricular nodes, and smooth muscle cells, have become known as calcium antagonists. These drugs are a heterogeneous group, and differ from one another in chemistry, tissue specificity, potency and bioavailability. The prototype of the group is verapamil. Other calcium antagonists are nifedipine and diltiazem. The therapeutic applications of these compounds include the relief of angina pectoris, and the management of hypertension, ischaemic heart disease and, in certain instances, arrhythmias. Calcium antagonists are also useful in the management of oesophageal achalasia, Raynaud's disease, and hypertrophic obstructive cardiomyopathy, and may be of use in premature labour.
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PMID:Calcium antagonists. 631 4

This study was intended to specify the most appropriate procedure of myotomy and fundoplication in the modified Belsey Mark IV operation toward the esophageal achalasia to prevent post-operative refluxes. Adult mongrel dogs were prepared under surgical operation of, short myotomy, short fundoplication, long myotomy, long fundoplication, long myotomy, long fundoplication of artificial hiatus hernia type control. After the well recovery, they were examined on their simultaneous evaluation of pH and inner pressure at three points, i.e. the esophagus, the high pressure zone (HPZ), and the stomach. At the same time, withdrawal pH curves, etc. were also determined. The discussion resulted that the group of short myotomy, short fundoplication and the group of artificial hiatus hernia type long myotomy, long fundoplication were significantly superior to the group of long myotomy, long fundoplication. As the consequence of the experiment, firstly, the possibility that the surgical operation of long myotomy, long fundoplication causes hypertension of the intrathoracic esophagus, which resulted in the dysfunction of the anti-reflux mechanism of the valves was suggested. Secondly, it has been revealed that this dysfunction did not occur in the surgical operations on the length of HPZ. And thirdly, when the conventional Mark IV operation, which buries all the portions of the fundoplication under the diaphragm, causes hypertension to the intrathoracic esophagus, the surgical operation of artificial hiatus hernia type shall be applied to herniate the upper portion of the fundoplication to the thoracic cavity.
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PMID:[An experimental study on post-operative anti-reflux effect by modified Mark IV operation to esophageal achalasia]. 667 63

A case of uncommon occurrence, such as the so called primary achalasia and hypertension of the cricopharyngeal sphincter is hereby described, as well as its successful treatment by means of an extramucous miotomy of the cricopharyngeal sphincter. The anatomy and physiology of the upper esophageal sphincter is described, as well as its pathogenesis. The published literature is also reviewed.
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PMID:[Achalasia and elevated pressure at the cricopharyngeal sphincter: comments on a case]. 734 28

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

Moyamoya disease (MMD) is a progressive vasculopathy characterized by occlusion of the terminal portion of the internal carotid arteries and its branches, and the formation of compensatory moyamoya collateral vessels. Homozygous mutations in GUCY1A3 have been reported as a cause of MMD and achalasia. Probands (n = 96) from unrelated families underwent sequencing of GUCY1A3. Functional studies were performed to confirm the pathogenicity of identified GUCY1A3 variants. Two affected individuals from the unrelated families were found to have compound heterozygous mutations in GUCY1A3. MM041 was diagnosed with achalasia at 4 years of age, hypertension and MMD at 18 years of age. MM149 was diagnosed with MMD and hypertension at the age of 20 months. Both individuals carry one allele that is predicted to lead to haploinsufficiency and a second allele that is predicted to produce a mutated protein. Biochemical studies of one of these alleles, GUCY1A3 Cys517Tyr, showed that the mutant protein (a subunit of soluble guanylate cyclase) has a significantly blunted signaling response with exposure to nitric oxide (NO). GUCY1A3 missense and haploinsufficiency mutations disrupt NO signaling leading to MMD and hypertension, with or without achalasia.
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PMID:Disrupted nitric oxide signaling due to GUCY1A3 mutations increases risk for moyamoya disease, achalasia and hypertension. 2677 56

The best-defined primary esophageal motor disorder is achalasia. However, symptoms such as dysphagia, regurgitation and chest pain can be caused by other esophageal motility disorders such as Diffuse Esophageal Spasm (DES), Nutcracker Esophagus (NE) and the Hypertensive Lower Esophageal Sphincter (HTN-LES). Most patients with DES and HTN-LES who complain of dysphagia improve after a myotomy. Patients with NE whose main complaint is chest pain, often do not have relief of the pain and can even develop dysphagia as a consequence of the myotomy. POEM is a relatively new procedure, and there are no studies with long-term follow-up and no prospective and randomized trials comparing it to surgical myotomy. Overall, the key to success is based on a complete evaluation and a careful patient selection. The best results, regardless of the technique, are in fact obtained in patients with outflow obstruction and impaired esophageal emptying, a picture similar to achalasia.
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PMID:The role of Heller myotomy and POEM for nonachalasia motility disorders. 2837 87

Allgrove syndrome is a rare autosomal recessive syndrome of unknown prevalence. The first case of Allgrove syndrome was reported in 1978 by Allgrove. It is characterized by triad of achalasia, alacrima and adrenal hypoplasia. There are also associated autonomic and neurological manifestations. We report the case of a 7 years old boy being treated for achalasia cardia, presented with fits and altered sensorium which on further investigations was found to be due to adrenal insensitivity (Raised ACTH level, low Cortisol level, and normal Aldosterone and Renin ratio). He also had undiagnosed alacrima since birth, mild degree of hearing loss and autonomic instability in the form of episodic hypertension.
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PMID:Allgrove syndrome: case report of 7 years old boy from Bahawalpur. 3010 99


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