Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0032290 (aspiration pneumonia)
 2,291 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The aim of this paper is to reveal the causes of death and to verify sudden death of Parkinson's disease (PD) in an autopsy study. We reviewed the clinical data and the causes of death in 16 PD patients who had postmortem examinations. Prior to autopsy, nine patients died of known causes: five patients died of aspiration pneumonia, two of myocardial infarction, one of asphyxia, and one of dilated cardiomyopathy. Autopsy confirmed that the putative causes of death were compatible with the pathological ones. The remaining seven patients died suddenly of unknown causes. Autopsy revealed that the causes of death were asphyxia in two patients and perforation of a duodenal ulcer in one patient. Autopsy did not determine the causes of unknown death in the remaining four patients. Consequently, autopsy revealed that eight patients died of swallowing problems such as aspiration pneumonia and asphyxia, four of sudden death, three of cardiac problems, and one of a gastrointestinal problem. Although there was a bias that all patients had a postmortem examination, our study revealed that several PD patients died of sudden death without any satisfactory causes of death determined even by autopsy. Therefore, we propose that a non-negligible number of PD patients die of sudden death.
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PMID:Sudden death in Parkinson's disease: a retrospective autopsy study. 2492 79

A spontaneously arising, loss-of-function mutation in the RNA binding motif protein 20 (Rbm20) gene, which encodes a nuclear splicing protein, was previously identified as the underlying reason for expression of an abnormally large TITIN (TTN) protein in a rat model of cardiomyopathy. An outbreak of Pseudomonas aeruginosa led to submission of rats with dyspnea, sneezing, lethargy, nasal discharge, and/or unexpected death for diagnostic evaluation. Necropsy revealed underlying megaesophagus in Rbm20-/- rats. Further phenotyping of this rat strain and determination of the size of esophageal TTN was undertaken. The Rbm20-defective rats developed megaesophagus at an early age (26 weeks) with high frequency (13/32, 41%). They also often exhibited secondary rhinitis (9/32, 28%), aspiration pneumonia (8/32, 25%), and otitis media/interna (6/32, 19%). In addition, these rats had a high prevalence of hydronephrosis (13/32, 41%). RBM20 is involved in splicing multiple RNA transcripts, one of which is the muscle-specific protein TTN. Rbm20 mutations are a significant cause of dilated cardiomyopathy in humans. In Rbm20-defective rats, TTN size was significantly increased in the skeletal muscle of the esophagus. Megaesophagus in this rat strain (maintained on a mixed genetic background) is hypothesized to result from altered TTN stretch signaling in esophageal skeletal muscle. This study describes a novel mechanism for the development of megaesophagus, which may be useful for understanding the pathogenesis of megaesophagus in humans and offers insights into potential myogenic causes of this condition. This is the first report of megaesophagus and other noncardiac pathogenic changes associated with mutation of Rbm20 in any species.
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PMID:Megaesophagus Is a Major Pathological Condition in Rats With a Large Deletion in the Rbm20 Gene. 3122 Oct 19