Gene/Protein Disease Symptom Drug Enzyme Compound
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 10,606 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Acute Intermittent Porphyria (AIP) is one of a group of rare metabolic disorders arising from reduced activity of any of the enzymes in the heme biosynthetic pathway. The porphyrias can be very difficult for the practitioner to understand. There are several types of porphyrias, which have been known by various different names and are classified from different perspectives1 based on where the defective synthesis site is, or what the clinical manifestations are. Since practitioners rarely encounter this disease process, it is commonly not considered in the differential diagnoses. AIP can be confused with other causes of acute abdominal disorders such as appendicitis with peritonitis or nephrolithiasis. Patients with AIP typically give a history of constipation, fatigue, irritability, and insomnia that precede their acute attack. Symptoms occur intermittently in some patients with acute attacks lasting for several days or longer and were usually followed by complete recovery. This case report deals with an initial presentation of AIP in an otherwise healthy 21-year-old active duty male Soldier. Clinical presentation, diagnosis and treatment are discussed as is a brief historical anecdote.
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PMID:Case report: Acute Intermittent Porphyria in a 21 year-old active duty male. 2170 62

Enterobius vermicularis may cause infections of the gastrointestinal tract and occurs approximately in 4% to 28% of children worldwide. It is most common in children aged 5 to 14 years.The most commonly reported symptoms are pruritus in the perianal region, abdominal pain, urinary tract infection, insomnia, irritability, salpingitis, and appendicitis, whereas intestinal obstruction is a very rare but would be considered to perform the right instrumental examination avoiding unnecessary surgical exploration.We report a case of an 8-year-old boy with an intestinal occlusion due to a colonic intussusception by Enterobius vermicularis managed conservatively.
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PMID:Enterobius Vermicularis as a Cause of Intestinal Occlusion: How To Avoid Unnecessary Surgery. 2619 60