Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0032285 (pneumonia)
 54,520 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Oncocytic cysts are rare benign cystic lesions, which are usually seen in the supraglottic region. They usually present with symptoms of hoarse voice or the sensation of a lump in the throat. Management is with complete excision and follow-up to monitor for recurrence. In this unusual case, an elderly woman presenting with shortness of breath following recent treatment for pneumonia developed rapidly worsening stridor during admission. Flexible nasal endoscopy revealed a large pedunculated cystic lesion arising from the subglottic laryngeal mucosa. A tracheostomy was performed as an emergency and the lesion was then excised. Histology confirmed the diagnosis of a benign oncocytic cyst. Although oncocytic cysts are a recognised benign pathology of the supraglottic larynx, they should remain in the differential diagnosis for the subglottic larynx. Management is based on cases of supraglottic pathology, and we advise careful monitoring for this previously unreported pathology.
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PMID:Unusual cause of airway obstruction: subglottic oncocytic cyst. 3124 24

Lesch-Nyhan disease (LND) is an X-linked recessive disorder caused by a deficiency in hypoxanthine-guanine phosphoribosyl transferase. Patients with LND experience involuntary movements, including dystonia, choreoathetosis, opisthotonos, ballismus, and self-injury. Alleviating these involuntary movements is important to improve the quality of life in patients with LND. Many clinicians have difficulty controlling these involuntary movements in their patients, and there are no established and effective treatments. A 6-month-old boy with LND presented with generalized dystonia and self-injury behavior that was alleviated after receiving S-adenosylmethionine (SAMe). His self-injury behavior completely resolved after he received SAMe and risperidone. Although he had often experienced inspiratory stridor because of laryngeal dystonia and frequently developed aspiration pneumonitis and bronchitis, no inspiratory stridor was noted after SAMe treatment. The patient is continuing to receive SAMe and risperidone. SAMe treatment alleviates dystonic movements and improves quality of life in pediatric patients with LND. Additional research is needed to determine the long-term safety and efficacy of SAMe and its appropriate dosage.
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PMID:The Effect of S-Adenosylmethionine Treatment on Neurobehavioral Phenotypes in Lesch-Nyhan Disease: A Case Report. 3160 91


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