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C Mattock

Publications and source records attributed to C Mattock.

10 recordsLinked to original sources

The effect of HFE mutations on serum ferritin and transferrin saturation in the Jersey population.

High frequencies of the haemochromatosis-related HFE C282Y mutation have been reported in North European populations, in which a high proportion of patients with the disease are homozygotes. However, the degree of penetrance of this genotype is unknown. We determined the HFE C282Y and H63D genotypes of 411 consenting volunteer blood donors on Jersey, and the serum ferritin and transferrin saturation levels of 204 of these volunteers. The C282Y allele frequency was found to be 8.3% in 822 chromosomes, indicating a homozygote frequency of 1/145. Consistent with this, four C282Y homozygotes were detected in 411 volunteers. As there are only 18 patients presently receiving treatment for haemochromatosis on Jersey, out of a total population of about 85000, there is a large discrepancy between the number of haemochromatosis patients and the number of C282Y homozygotes in this population. In a preliminary study of 204 consenting volunteers we found a correlation between transferrin saturation and HFE H63D/ C282Y genotype (P=0.017) and between serum ferritin and genotype (P = 0.056). We also observed elevated values of transferrin saturation in the two C282Y homozygotes assayed. These results suggest that a large proportion of the many undetected C282Y homozygotes on Jersey and in similar populations could be in the preclinical stages of haemochromatosis, and warrant investigation. However, there may be a wide variation in the expression of the condition, and a more extensive study of the level of disease penetrance encompassing a large number of hitherto undetected C282Y homozygotes is therefore imperative.

Adult↗

Activation of human platelets by exposure to a monoclonal antibody, PM6/248, to glycoprotein IIb-IIIa.

Monoclonal antibody PM6/248, which recognizes the GPIIb-IIIa complex on human platelets, causes platelet aggregation in platelet-rich plasma or in gel-filtered platelet suspensions. Aggregation follows a concentration-dependent lag phase and reaches a maximum at 8 micrograms/ml. High concentrations of antibody (less than 30 micrograms/ml) produce complete inhibition of the aggregation response. Aggregation is accompanied by serotonin secretion and thromboxane A2 synthesis, neither of which are inhibited by high concentrations of antibody, and by the mobilization of intracellular Ca2+. The F(ab')2 fragment of PM6/248 does not cause platelet activation and pre-incubation of platelets with this fragment inhibits all platelet responses stimulated by the whole antibody. Pre-incubation with the F(ab')2 fragment of the anti-Fc gamma RII Mab, IV. 3, also inhibits all responses to PM6/248. These data indicate that platelet activation stimulated by PM6/248 is caused by cross-linking of GPIIb-IIIa to the Fc gamma RII which stimulates signal transduction across the plasma membrane through a conformational change in the Fc gamma RII.

Animals↗

Platelet satellitism and alpha granule proteins.

Blood smears from a patient with severe generalised arteriopathy and an occluded synthetic femoropopliteal graft showed the phenomenon of EDTA dependent adherence of platelets to neutrophils (platelet satellitism). Immunoenzymatic staining with a monoclonal antibody to thrombospondin showed that adherence to neutrophils exclusively involved platelets that stained strongly positive for thrombospondin, while negative or weakly positive platelets showed no tendency to adhere. There was no increase in platelet surface immunoglobulins. This suggests a possible role for thrombospondin or some other cytoadhesive platelet alpha granule protein in mediating the adherence of platelets to neutrophils in cases of satellitism.

Aged↗

Health interviews. Stepping off the medical treadmill.

Ealing health authority's new school health programme aims to cut out routine--and often unnecessary--medicals for all new primary school entrants. The health interview is a key part of the process of identifying children with health needs for medical examination. The new programme not only releases school nurse time for developing health promotion activities within the core curriculum, writes Carole Mattock. It also acknowledges the important lead role of the school nurse within the school health service.

Health Status Indicators↗

Could Parkinson's disease follow intra-uterine influenza?: a speculative hypothesis.

Patients with idiopathic Parkinson's disease do not appear to be distributed smoothly with respect to year of birth. Individuals born within the years 1892, 1904, 1909, 1918, 1919 and 1929 appear to have had an increased risk of developing idiopathic Parkinson's disease in later life. These years are close to those of the influenza pandemics of the period 1890-1930. The estimated risk of an individual developing idiopathic Parkinson's disease shows a significant correlation with the crude influenza mortality for the year of his birth, within the range 1900 to 1930. It is suggested that intra-uterine influenza may be cytotoxic to the developing foetal substantia nigra, and that an affected individual may be born without evident disability but with limited striatal neurochemical reserves and a reduced nigral cell count. In later life normal cellular involution with ageing or exposure to environmental neurotoxic factors may further erode these reserves to a level where the substantia nigra fails and idiopathic Parkinson's disease becomes clinically apparent.

Aged↗