We describe a family with autosomal dominant inheritance of increased body iron stores characterized by raised serum ferritin concentration and normal transferrin saturation. Liver biopsy showed iron deposition in Kupffer cells without fibrosis. The clinical features of HFE-related hemochromatosis were absent, as were the Cys282Tyr and His63Asp mutations. Venesection therapy was poorly tolerate...

Following the well-publicized problems with paediatric cardiac surgery at the Bristol Royal Infirmary, there is wide public interest in measures of hospital performance. The Kennedy report on the BRI events suggested that such measures should be meaningful to the public, case-mix-adjusted, and based on data collected as part of routine clinical care. We have found that it is possible to predict...

X-radiation remains the treatment of choice in most cases of leukemia and lymphoma, but new agents are playing an increasing role in therapy. Radioactive phosphorus does not produce radiation sickness and results with it are comparable to those of x-ray therapy in chronic leukemia. Urethane and nitrogen mustard may produce remissions in patients with chronic leukemia who have become resistant t...

In previous bloodstream infection studies in Malawi, we inoculated blood from a single venesection into a single BACTEC MYCO/F LYTIC (MFL) vial. Inoculation of one vial, however, would be expected to reduce the sensitivity of bloodstream pathogen detection with MFL vials. To ascertain the degree of this loss of sensitivity, blood was drawn from each of 228 febrile, adult inpatients in Malawi an...

Haemochromatosis is now known to be an iron-storage disease with genetic heterogeneity but with a final common metabolic pathway resulting in inappropriately low production of the hormone hepcidin. This leads to increase in intestinal absorption and deposition of excessive amounts of iron in parenchymal cells which in turn results in eventual tissue damage and organ failure. A clinical enigma h...

A patient with homozygous sickle cell disease showed a reduced incidence of painful crises as a result of regular exchange transfusion, but on three occasions when transfusion treatment was interrupted, a painful crisis occurred. Onset of painful crisis was associated with raised packed cell volume (PCV) or percentage of haemoglobin S (HbS%), or both. Measurement of whole blood viscosity using ...

distressing sense of weight and fulness in the head. It was so severe that she could not lift up her head, being thus rendered entirely unfit for duty, both during menstruation and for several days afterwards. Sfce was naturally of a somewhat plethoric habit of body. The palpebral conjunctivae were somewhat injected in appearance. The ptilse was large, full, and somewhat incompressible. She com...

The RCPAQAP provides a Liquid Serum Chemistry Program sourced from consenting male and female haemochromatosis patients presenting for therapeutic venesection. Where possible, serum individual are pooled over successive collections. option to report Troponin I T was introduced in the 2022 program. We sought review performance at low levels across 10 instruments five vendors, four Roche instrume...