Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0014848 (achalasia)
 2,804 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Inborn errors of colorectal innervation can be classified in four different forms: 1. Aganglionosis (including total aganglionosis of the colon, Hirschsprung's disease, ultrashort Hirschsprung's segment and neurogenic sphincter achalasia) 2. Hypoganglionosis 3. Congenital malformation of sympathetic innervation of the colon (Neuronal Intestinal Dysplasia Typ A or NID A) 4. Congenital malformation of the submucous plexus (Neuronal Intestional Dysplasia Typ B or NID B). We find in 52.2% of our biopsies with a characteristic malformation of the colorectal innervation an aganglionosis. 40.6% are malformations of the submucous plexus (NID B). Half of the cases with Hirschsprung's disease are combined with NID B. 5.0% of the classified colorectal malformations of the innervation are a hypoganglionosis and 2.2% a NID A. An additional half of our biopsies cannot be introduced into the above given classification due to moderate malformations of the colorectal innervation (mild dysganglionosis, hypogenetic nerve cells of the submucous plexus, heterotopic nerve cells of the submucous and myenteric plexus).
 ...
PMID:[Classification of malformations of colorectal innervation]. 172 47

Achalasia is a motility disorder of the esophagus characterized by the loss of inhibitory neurons in the distal esophagus. Although idiopathic in nature, autoimmune mechanisms have been proposed, and we set out to determine the presence of myenteric neuronal antibodies. We prospectively studied 18 patients with well-characterized achalasia (by clinical, x-ray, and manometric evidence), nine with gastroesophageal reflux disease, and analyzed the sera from 22 disease-free controls. Using double-label, indirect immunofluorescence techniques, rat esophageal and intestinal sections were double-labeled with sera (dilutions of 1:50 to 1:400) from the three groups and with neurofilament antibody to localize neurons. Seven of 18 achalasia patients had sera that stained the majority of neurons within plexi in the esophageal and intestinal sections, including both NADPH diaphorase (nitric oxide synthase) -positive and -negative neurons. None of the gastroesophageal reflux patients or the controls showed staining. Neuronal antibodies in achalasia provide an attractive hypothesis to explain this diffuse, possibly immune-based disorder.
 ...
PMID:Anti-myenteric neuronal antibodies in patients with achalasia. A prospective study. 905 11

Allgrove's syndrome, i.e., achalasia, addisonianism, alacrima (OMIM 231550) is an autosomal recessive disorder recently associated with the AAAS gene coding for the Aladin protein. However, the pathophysiology of achalasia in Allgrove's syndrome remains obscure. Here we investigated the histopathology of the cardia in Allgrove's syndrome. Myectomy specimens from 10 children with Allgrove's syndrome and four normal cardia were studied by routine staining and by immunohistochemistry for the pan-neuronal marker PGP9.5, neuronal NO synthase, interstitial cells of Cajal, and CD3+ lymphocytes. In the normal cardia, myenteric ganglia, intramuscular nerve fibers, and interstitial cells of Cajal were numerous, whereas myenteric fibrosis and lymphocyte infiltrates were absent. In Allgrove's syndrome, fibrosis of the intermuscular plane was prevalent in all patients. Myenteric ganglia were absent, decreased, or apparently normal in 1 of 10, 8 of 10, and 1 of 10, respectively. Neuronal NO synthase was absent in 7 of 10 and decreased in 3 of 10, whereas interstitial cells of Cajal appeared normal in 7 of 10 and decreased in 3 of 10. Lymphocytes infiltrating the myenteric plexus were present in 6 of 10. Pyloromyectomy specimens available for six patients showed normal histopathologic features. In conclusion, the lack of neuronal NO synthase and fibrosis of the intermuscular plane can be linked to the defective cardia relaxation. Other features were less constant and may reflect the variability of disease expression and progression among patients with Allgrove's syndrome.
 ...
PMID:Achalasia of the cardia in Allgrove's (triple A) syndrome: histopathologic study of 10 cases. 1271 51

Although Chagas' disease esophagopaty and idiopathic (primary) achalasia share several similarities, however, some differences between the two diseases have been noticed. To evaluate if treatment options and their results can be accepted universally, the authors review characteristics of both diseases in the international and Latin American literature. Neuronal denervation, sensitivity to gastrin, patient age, duration of symptoms, lower esophageal sphincter pressure, incidence of vigorous achalasia, and cancer risk are considered points of discrepancy between the maladies. Data with a high level of evidence base are scarce; however, differences between the diseases seem to exist, despite the fact that no influence on response to treatment was noticed.
 ...
PMID:Are idiopathic and Chagasic achalasia two different diseases? 1513 81

Intestinal Dysganglionoses (IDs) represent a heterogeneous group of Enteric Nervous System anomalies including Hirschsprung's disease (HD), Intestinal Neuronal Dysplasia (IND), Internal Anal Sphincter Neurogenic Achalasia (IASNA) and Hypoganglionosis. At present HD is the only recognised clinico-pathological entity, whereas the others are not yet worldwide accepted and diagnosed. This report describes the areas of agreement and disagreement regarding definition, diagnosis, and management of IDs as discussed at the workshop of the fourth International Meeting on "Hirschsprung's disease and related neurochristopathies." The gold standards in the preoperative diagnosis of IDs are described, enlighting the importance of rectal suction biopsy in the diagnostic workup. The most important diagnostic features of HD are the combination of hypertrophic nerve trunks and aganglionosis in adequate specimens. Acetylcholinesterase staining is the best diagnostic technique to demonstrate hypertrophic nerve trunks in lamina propia mucosae, but many pathologist from different centers still use H&E staining effectively. Moreover, the importance of an adequate intraoperative pathological evaluation of the extent of IDs to avoid postoperative complications is stressed. Although it is not clear whether IND is a separate entity or some sort of secondary acquired condition, it is concluded that both IND and IASNA do exist. Other interesting conclusions are provided as well as detailed results of the discussion. Further investigation is needed to resolve the many controversies concerning IDs. The fourth International Conference in Sestri Levante stimulated discussion regarding these entities and led to the International guidelines to serve the best interest of our patients.
 ...
PMID:Controversies concerning diagnostic guidelines for anomalies of the enteric nervous system: a report from the fourth International Symposium on Hirschsprung's disease and related neurocristopathies. 1622 77