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 describe a 31-year-old woman of British Isle ancestry who developed a syndrome resembling familial dysautonomia in her early teenage years. Predominant manifestations included achalasia, severe orthostatic hypotension, and abnormal sweating. The study included resting and stimulated fractional catecholamines, which were almost nonexistent in both situations, and urinary catecholamines, demonstrating an increase in dopamine degradation products. Immunohistochemistry of saphenous vein was negative for dopamine beta-hydroxylase (DBH), serotonin (5-HT) and several vasoactive neuropeptides. The only neuropeptide detected at levels thought to be physiologically relevant was calcitonin gene-related peptide (CGRP), a vasodilator. This was in contrast to control veins, all of which had DBH and neuropeptide Y immunoreactive fibers but few CGRP fibers. Also in contrast to controls, electron microscopy of the saphenous vein indicated a close to total absence of terminals with norepinephrine containing vesicles. Sural nerve biopsy showed, on electron microscopy, a considerable reduction in the number of myelinated fibers, while unmyelinated fibers appeared to be in the normal range. The authors suggest, from the above findings, that the autonomic fibers were undergoing some form of distal axonal degeneration. Their findings differ from most biopsies performed in dysautonomic children, and they believe their patient has a different neurologic entity.
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PMID:Case report: autonomic postganglionic denervation--sural nerve and saphenous vein biopsy. 158 Mar 23

The occurrence and distribution of neuropeptide Y (NPY) was studied in smooth-muscle specimens from the human lower esophageal sphincter region by immunocytochemistry and immunochemistry. Normal individuals and patients suffering from achalasia or hiatus hernia with severe gastroesophageal reflux were examined. NPY fibers were found within and around smooth-muscle bundles of the longitudinal and the circular muscle layers and within the myenteric ganglia. Smooth-muscle specimens from patients with hiatus hernia and gastroesophageal reflux displayed numerous NPY fibers and an increased content of NPY. Specimens from patients with achalasia contained only few NPY fibers and had a decreased content of NPY as compared to specimens from control patients. Conceivably, NPY may play a role in the regulation of the lower esophageal sphincter.
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PMID:Distribution and content of neuropeptide Y in the human lower esophageal sphincter. 356 77

In this study the innervation of the normal human oesophagus was compared with samples taken from 12 patients undergoing Heller's cardiomyotomy for achalasia. The distribution of all nerve fibres in the oesophageal wall was revealed by immunoreactivity to neuron specific enolase and subpopulations of nerve fibres were revealed by immunoreactivity to vasoactive intestinal peptide, neuropeptide Y, enkephalin and substance P. In healthy oesophagus, many nerve fibres immunoreactive for vasoactive intestinal peptide and neuropeptide Y were present in the circular and longitudinal muscle layers of the oesophageal wall and in the cardia of the stomach, whereas fibres immunoreactive for enkephalin and substance P were uncommon. Neuropeptide Y-reactive fibres were commonly seen around blood vessels. In the myenteric plexus cell bodies reactive for vasoactive intestinal peptide and neuropeptide Y were prevalent, as were varicose and non-varicose fibres. In contrast, samples from patients with achalasia revealed few nerve fibres immunoreactive for vasoactive intestinal peptide or neuropeptide Y in either circular or longitudinal muscle, suggesting damage to the inhibitory motor neurons to the muscle layers. Very few fibres were found that were reactive for neuron-specific enolase, indicating that other fibre population (e.g. excitatory cholinergic motor neurons) are also damaged in achalasia. These abnormalities were observed in biopsies from both the constricted and dilated portions of the oesophagus, but the pattern of innervation in the gastric cardia was normal. Myenteric ganglion cells were seen in the oesophagus in only two patients and varicose nerve fibres in the myenteric plexus were uncommon. Neuropeptide Y-reactive perivascular nerve fibres were still found in achalasia as well as non-varicose nerve fibres in the myenteric plexus. These findings indicate damage to all intrinsic neurons in the oesophageal wall in achalasia; however, extrinsic nerve fibres appear to be intact.
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PMID:Distribution of peptide-containing nerve fibres in achalasia of the oesophagus. 874 21