Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In adult humans moral intervertebral disc (id) is an avascular tissue and becomes so called sequestrated autoantigen. Any acquired defect of anulus fibrosus may potentially lead to contact of immunocompetent cells circulating in the blood with id antigens thus inducing autoimmune reaction. 34 patients operated on because of lumbar discopathy were studied. The id injury was divided into: a) protrusion, B) simple prolapse, c) subligamentous prolapse, d) sequester. The samples of surgically removed id were subjected to histopathological and immunohistochemical study. Presence of granulation tissue, neovascularization and humoral response (confirmed by immunopositive reaction to factor VIII and IgG) was found in decreasing pattern in the following groups: I) sequesters, 2) simple prolapses, and 3) subligamentous prolapses. Among protrusions there were only two cases positive for IgG. A negative reaction to C3bR was seen in all the groups of id. The obtained results suggest that immune reaction against lumbar id is rather an effect than a cause of its herniation.
 ...
PMID:[The study of the role of intervertebral disc neovascularization and immune response in the pathogenesis of lumbar discopathy]. 976 May 52

Andersen-Tawil syndrome (ATS) is an autosomal dominant, multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias and distinctive dysmorphic facial or skeletal features. The disorder displays marked intrafamilial variability and incomplete penetrance. Myasthenia gravis (MG) is an autoimmune disorder that demonstrates progressive fatigability, in which the nicotinic acetylcholine receptor (AChR) at neuromuscular junctions is the primary autoantigen. The present study reports a rare case of a 31-year-old woman with a history of morbid obesity and periodic weakness, who presented with hemodynamic instability, cardiogenic shock and facial anomalies. Laboratory results revealed hypokalemia and an elevated anti-AChR antibody expression levels. Electrocardiography demonstrated prolonged QT-interval, ST-elevation, and subsequent third-degree atrioventricular block. Neurological examination revealed bilateral ptosis, horizontal diplopia, dysarthria and generalized weakness. No mutations in the potassium channel inwardly rectifying subfamily J member 2 gene were detected in the present case. The patient was treated with oral potassium supplementation and an acetylcholinesterase inhibitor (pyridostigmine), after which the symptoms were improved. To the best of our knowledge, the present case report was the first to describe concomitant presentation of both ATS and MG, which represents a diagnostic and therapeutic challenge.
 ...
PMID:Concomitant presentation of Anderson-Tawil syndrome and myasthenia gravis in an adult patient: A case report. 2769 45