Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0018681 (headache)
 56,091 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Leigh syndrome is a progressive neurodegenerative disease frequently associated with mitochondrial abnormalities. The mitochondrial DNA T9176C mutation in the adenosine triphosphatase 6 gene has recently been described as a cause of Leigh syndrome. Leukocyte DNA from 59 children with Leigh syndrome was screened for the T9176C mutation by conventional polymerase chain reaction methods. Two unrelated patients were found to be homoplasmic for this mutation in blood. Both patients had similar clinical and biochemical features. They had first presented acutely at 3 and 5 years, respectively, with ataxia and slurred speech. Magnetic resonance imaging changes were consistent with Leigh syndrome, and the cerebrospinal fluid lactate was elevated. They have both had relatively stable disease since the time of diagnosis. The mother of one of the children had presented at age 29 years with sudden onset of ataxia, headache, and blurred vision. She was heteroplasmic for the T9176C mutation. The T1976C is an important cause of Leigh syndrome especially in the subgroup of patients with more stable disease and normal respiratory chain enzyme analysis.
 ...
PMID:Mitochondrial DNA point mutation T9176C in Leigh syndrome. 1119 6

The pharmacology, pharmacokinetics, clinical efficacy, adverse effects, and dosage and administration of pantoprazole are reviewed. Pantoprazole is a gastric hydrogen-potassium adenosine triphosphatase (H+/K(+)-ATPase) inhibitor. It shares the same core structure as other currently available proton-pump inhibitors (PPIs). The FDA-labeled indication is the short-term treatment of erosive esophagitis. PPIs act by selectively inhibiting H+/K(+)-ATPase in the secretory canaliculus of the stimulated parietal cell. Understanding the pharmacodynamics of PPIs is more relevant than knowing their pharmacokinetics, since the duration of action depends on the rate of de novo proton-pump regeneration, not the duration of drug circulation in the body. Pantoprazole is well absorbed, undergoes little first-pass metabolism, and has an absolute bioavailability of approximately 77%. Pantoprazole has been evaluated in more than 100 clinical trials involving more than 11,000 patients. It is effective in treating erosive esophagitis and duodenal and gastric ulcers. It is also effective as adjunctive treatment with antimicrobials in patients infected with Helicobacter pylori. Pantoprazole has been shown to control acid production in Zollinger-Ellison syndrome. Pantoprazole is well tolerated. The most commonly reported adverse effects are headache, diarrhea, and abdominal pain. The recommended oral dosage for erosive esophagitis is 40 mg once a day for up to eight weeks. The recommended i.v. dose is 40 mg given over 15 minutes once a day in patients with gastroesophageal reflux disease who are unable to take oral medication. Pantoprazole appears to be as safe and effective as other PPIs in acid-related disorders.
 ...
PMID:Pantoprazole. 1140 94