Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0022104 (irritable bowel syndrome)
 8,033 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Constipation is traditionally defined as three or fewer bowel movements per week. Risk factors for constipation include female sex, older age, inactivity, low caloric intake, low-fiber diet, low income, low educational level, and taking a large number of medications. Chronic constipation is classified as functional (primary) or secondary. Functional constipation can be divided into normal transit, slow transit, or outlet constipation. Possible causes of secondary chronic constipation include medication use, as well as medical conditions, such as hypothyroidism or irritable bowel syndrome. Frail older patients may present with nonspecific symptoms of constipation, such as delirium, anorexia, and functional decline. The evaluation of constipation includes a history and physical examination to rule out alarm signs and symptoms. These include evidence of bleeding, unintended weight loss, iron deficiency anemia, acute onset constipation in older patients, and rectal prolapse. Patients with one or more alarm signs or symptoms require prompt evaluation. Referral to a subspecialist for additional evaluation and diagnostic testing may be warranted.
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PMID:Diagnostic approach to chronic constipation in adults. 2184 77

Ornithine transcarbamylase (OTC) deficiency is well known for its diagnosis in the neonatal period. Presentation often occurs after protein feeding and manifests as poor oral intake, vomiting, lethargy progressing to seizure, respiratory difficulty, and eventually coma. Presentation at adulthood is rare (and likely underdiagnosed); however, OTC deficiency can be life-threatening and requires prompt investigation and treatment. Reports and guidelines are scarce due to its rarity. Here, we present a 59-year-old woman with a past history of irritable bowel syndrome who underwent a reparative operation for rectal prolapse and enterocele. Her postoperative course was complicated by a bowel perforation (which was repaired), prolonged mechanical ventilation, tracheostomy, critical illness myopathy, protein-caloric malnutrition, and altered mental status. After standard therapy for delirium failed, further investigation showed hyperammonemia and increased urine orotic acid, ultimately leading to the diagnosis of OTC deficiency. This case highlights the importance of considering OTC deficiency in hospitalized adults, especially during the diagnostic evaluation for altered mental status.
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PMID:Ornithine Transcarbamylase Deficiency: If at First You Do Not Diagnose, Try and Try Again. 2927 77