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Biomedical subjects

L W Powell

Publications and source records attributed to L W Powell.

295 records · Page 17Linked to original sources
PubMedDate not supplied

Population screening for HFE-associated haemochromatosis: should we have to pay for our genes?

Haemochromatosis associated with mutations in the HFE gene is the most common inherited disorder in Caucasian populations. Early diagnosis and treatment allows for normal life expectancy, whereas there is considerable morbidity and early mortality in those patients diagnosed late or untreated. Unfortunately, the development of symptoms and signs in haemochromatosis is usually associated with significant iron overload. For this reason, many clinicians and geneticists have advocated population screening. The recent identification of the HFE gene and the availability of a simple DNA-based diagnostic test have led to international debate as to the most cost-effective means of population screening for HFE-associated haemochromatosis. The present paper summarizes the evidence in favour of population screening and analyses the relative advantages of genotypic (DNA test) versus phenotypic (transferrin saturation) testing.

Cost-Benefit Analysis↗
PubMedDate not supplied

The interaction of cigarette smoking and chronic drug ingestion on human drug metabolism.

1. Drug metabolism was assessed by the disappearance rate of antipyrine as measured in saliva. Results were expressed in terms of both clearance and half life. 2. Basal measurements of antipyrine disappearance rate were performed in seven non-smokers and six smokers. After administration of glutethimide 250 mg daily for 7 days a second measurement of antipyrine disappearance rate was made. 3. Glutethimide enhanced antipyrine metabolism in both smokers and non-smokers. The degree of change in both groups was similar. 4. A similar study was carried out with a smaller dose (125 mg) of glutethimide. There was no significant difference between smokers and non-smokers.5. The data are consistent with smoking and chronic drug ingestion having additive effects on enhancement of hepatic drug metabolism.

Adult↗
PubMedDate not supplied

Chylous ascites in cirrhosis: a case report and review of the literature.

Chylous ascites is an uncommon clinical entity which results from the accumulation of fat, predominantly chylomicrons, in the ascitic fluid. Conventional treatment methods are unsatisfactory. A patient is reported with chylous ascites associated with cirrhosis and portal hypertension in whom the ascites, the renal insufficiency and the fluid and electrolyte disturbances were corrected by the insertion of a Denver peritoneovenous shunt.

Chylous Ascites↗
PubMedDate not supplied

Wilson's disease in an Australian aborigine.

Wilson's disease is due to a genetically determined defect inherited as an autosomal recessive trait. Most reported cases have been caucasoid. This report describes a case of Wilson's disease in an Australian Aboriginal girl, only the second such case reported.

Child↗
PubMedDate not supplied

Differential regulation of ferritin H and L subunit mRNA during inflammation and long-term iron overload.

Iron overload, such as occurs in the genetic disease haemochromatosis, leads to synthesis of ferritin containing an increased proportion of L subunits. Inflammation also leads to clinically important increases in ferritin synthesis but the predominant subunit involved is unclear. Elevation of serum ferritin concentration during the acute phase response confounds its use as an indicator of body iron stores and identification of the major subunit involved may allow distinction of the ferritin associated with inflammation from the synthesized during iron overload. The present study examined H and L ferritin subunit mRNA levels in rats with: (i) longstanding iron overload, both parenteral and oral, in which changes should be maximal and stable; and (ii) inflammation of 24 and 48 h duration. A two-fold increase in L mRNA level was found in both groups of iron loaded animals while H mRNA level was unchanged. This finding would account for the observed preponderance of L subunits in ferritin during iron overload. During the course of inflammation there was a progressive decrease in L mRNA level in the liver but not the spleen. H mRNA relative to total RNA level was unchanged in both liver and spleen. It is concluded that the differential regulation of the two ferritin subunits in response to different stimuli and in different tissues occurs at the level of alteration in mRNA concentration.

Acute-Phase Reaction↗