Biomedical subjects

M Chisholm

Publications and source records attributed to M Chisholm.

At least 37 records · Page 2Linked to original sources

PubMed1996

Management of intractable childhood seizures using the non-MCT oil ketogenic diet in 20 patients.

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Blood Glucose↗

PubMed1995

Three novel mutations in the protein C (PROC) gene causing venous thrombosis.

Missense mutations, three of them novel (Gly47-->Cys, Arg178-->Pro, Ala259-->Thr), were found in the protein C genes of four patients with inherited protein C deficiency associated with venous thrombosis. Comparison with the phenotypic effects of mutations in the analogous residues of factor IX and the use of a molecular model of protein C provided explanations as to how these lesions might alter either the structure, function or stability of the protein C molecules encoded.

Adolescent↗

PubMed1995

Protein C deficiency and stroke in early life.

Plasma concentrations of protein C, protein S and antithrombin III were measured in 33 unselected children with a history of cryptogenic stroke (group 1), four children with previously ascertained low plasma concentrations of protein C following stroke (group 2) and 42 healthy children undergoing minor surgery (group 3). Protein S and antithrombin III were normal in all patients. Low concentrations of protein C were found in two patients in group 1 and in six healthy children in group 3. Low protein C concentrations returned to normal over many months in three of the four patients in group 2. Prophylactic antithrombotic therapy and/or termination of pregnancy had been carried out unneccessarily in two families in whom inherited protein C deficiency was not confirmed. The suggestion that heterozygous protein C deficiency contributes to the risk of arterial stroke was not supported by this study.

Adolescent↗

PubMed1995

Cutaneous necrosis in pregnancy secondary to activated protein C resistance in hereditary angioedema.

A 26-year-old woman with hereditary angineurotic oedema (HAE) presented at 22 weeks gestation with severe cutaneous necrosis similar to that seen in coumarin skin necrosis. Protein S deficiency secondary to HAE and pregnancy was postulated. Treatment with heparin, C1-inhibitor concentrates, systemic steroids and surgical debridement resulted in a successful outcome for both mother and child. Subsequent investigations revealed normal levels of protein C, antithrombin III, total protein S, free protein S but reduced function protein S activity with evidence of activated protein C resistance. Cutaneous necrosis has not been reported in associated with activated protein C resistance previously and the possible mechanisms are discussed.

Adult↗

PubMed1993

Unresolved pulmonary embolism: the role of fibrinolysis.

A minority of patients with acute pulmonary embolism (PE) show failure of resolution when assessed by serial ventilation/perfusion (V/Q) radionuclide lung imaging. The fibrinolytic systems were studied in six such patients (group I), and in 11 patients in whom PE had resolved (group II), together with 17 healthy control subjects. Assays of the fibrinolytic system included euglobulin clot lysis times (ECLT), tissue plasminogen activator (tPA), and plasminogen activator inhibitor-1 (PAI-1). Euglobulin clot lysis times were not prolonged in the unresolved PE group, but were significantly longer in patients in group II when compared to control subjects (P < 0.03). This could not be explained either on the basis of tPA levels, which were higher in group II when compared to group I (P < 0.05) and control subjects (P < 0.02), or on the basis of PAI-1 levels which did not differ significantly between the three groups. Our inability to demonstrate derangements of fibrinolysis in the patients with unresolved PE makes defective fibrinolysis an unlikely aetiological factor in the persistence of thrombosis in these patients.

Acute Disease↗

PubMed1993

Gastro-intestinal bleeding in acquired von Willebrand's disease: efficacy of high-dose immuno-globulin where substitution treatments failed.

We report a case of acquired von Willebrand's disease with severe and persistent gastro-intestinal bleeding from multiple bleeding points. He received maximum substitution treatment including factor VIII concentrates, cryoprecipitate and platelets. He also received DDAVP. There was no change in the rate of blood loss. He was then treated with high-dose intravenous gamma-globulin and the blood loss stopped abruptly. He remained well for several months when bleeding recommenced and he again responded promptly to gamma-globulin. This is a useful maintenance treatment for patients with acquired von Willebrand's disease.

Aged↗

PubMed1993

A base substitution (T-->C) in codon 29 of the alpha 2-globin gene causes alpha thalassaemia.

We have identified three individuals of Greek or Greek Cypriot origin with an atypical form of HbH disease characterized by a severe hypochromic microcytic anaemia associated with relatively small amounts of HbH in the peripheral blood. Molecular analysis has shown that each is a compound heterozygote for a previously described mutation affecting the poly A addition signal (AATAAA-->AATAAG) and a previously undescribed mutation involving a T-->C transition in codon 29 of the alpha 2 gene causing a leucine-->proline substitution. Although this mutation would be expected to produce an unstable haemoglobin and hence a haemolytic anaemia, simple heterozygotes for the alpha 29Leu-->Pro mutation have the phenotype of alpha-thalassaemia trait.

Adult↗

PubMed1992

A novel homozygous missense mutation in the protein C (PROC) gene causing recurrent venous thrombosis.

A novel homozygous CCC----CTC (Pro 247----Leu) substitution was detected in the protein C genes of a patient, born to consanguineous parents, with inherited type 1 protein C deficiency and recurrent venous thrombosis. Since one of four heterozygous relatives was also clinically affected, the condition appears to be inherited as an incompletely recessive trait in this family.

Base Sequence↗

PubMed1991