Search PubMed⌕ Search

Biomedical subjects

D I Evans

Publications and source records attributed to D I Evans.

At least 37 records · Page 2Linked to original sources
PubMed1989

Familial thrombocytopenia and myopathy.

We report a family in which a combination of myopathy and thrombocytopenia is transmitted as an autosomal dominant characteristic through three generations. The myopathy has unusual histological features with type II fibre atrophy and vacuolation while the thrombocytopenia appears to be due to a defect in megakaryocyte maturation, platelet morphology and function being normal. The haematological findings in such a family have not been described previously.

Adult↗
PubMed1988

Familial myopathy associated with thrombocytopenia: a clinical and histomorphometric study.

We describe an unusual vacuolar myopathy with tubular aggregates in a mother and son from a family presenting with a slowly progressive, predominantly limb girdle, weakness and distal upper limb weakness in association with reduced blood clotting ability. To our knowledge this is the first report of a familial clinical defect of both muscle and platelets in the same individuals. The possibility that the primary defect may be due to an abnormality of the tubular intramembranous systems in muscle cells and platelet precursors is discussed.

Adolescent↗
PubMed1988

Aplastic anaemia incidence in parts of the United Kingdom in 1985.

This paper describes the distribution of new cases of aplastic anaemia in parts of the UK in 1985. The age, sex and spatial pattern are described. Special attention is given to the investigation of five childhood cases which occurred close in space and time. The results are contrasted with similar data from elsewhere.

Adolescent↗
PubMed1988

Silent avascular necrosis of the femoral head in haemophilia.

Haemophilia is a rare cause of avascular necrosis of the femoral head. We report three cases from one centre, an incidence of 2.8%. All three cases presented "silently", and this makes the early diagnosis difficult. Awareness of the condition should lead to examination of the hips of haemophiliac patients at every outpatient visit and admission in the hope that hip disease can be diagnosed at an early stage. This may allow earlier treatment, less femoral head deformity, and an improvement in the long-term prognosis.

Child↗
PubMed1987

Bone marrow transplantation in the treatment of alpha-mannosidosis.

Bone marrow transplantation was performed in a patient with alpha-mannosidosis. To our knowledge this is the first time such treatment has been attempted. The patient died 18 weeks after successful grafting and specimens of tissues were obtained at necropsy. Alpha-mannosidase activity in spleen and liver was just below normal (spleen 102 mumol/g/hour, control 113-330; liver 29 mumol/g/hour, control 30-131). Splenic alpha-mannosidase activity was indistinguishable from the control enzyme with respect to the Michaelis constant, heat stability, and inhibition by cobalt ions, as was 86% of the liver enzyme. In brain tissue alpha-mannosidase activity was 7% of controls, and less than one third had the properties of the normal enzyme. Oligosaccharides were present only in small amounts in liver and spleen, whereas they were greatly increased in brain tissue. Electron microscopic pictures of liver and spleen tissue showed normal morphology, but brain tissue showed definite vacuolation. These findings suggest that transplantation reversed the somatic changes of alpha-mannosidosis but did not affect lysosomal storage within brain tissue. It is concluded that marrow transplantation may not be a suitable treatment for alpha-mannosidosis.

Bone Marrow Transplantation↗
PubMed1987

Immune amegakaryocytic thrombocytopenia of the newborn: association with anti-HLA-A2.

Three newborn babies with congenital immune amegakaryocytic thrombocytopenia are described. Two were siblings. The mothers' sera showed antibody against both pooled random platelets and lymphocytes of type HLA-A2. Two babies had transient thrombocytopenia and leucopenia and made a full haematological recovery. One baby died aged four hours having had no haematological investigations during life. Histological examination of the bone marrow in all three babies (two by trephine biopsy; one at necropsy) confirmed a deficiency of megakaryocytes. It is suggested that anti-HLA-A2 may cause neonatal thrombocytopenia by depressing megakaryocytes instead of, or in addition to, any direct effect on platelets.

Antibodies↗
PubMed1985

Postsplenectomy sepsis 10 years or more after operation.

Three new cases (two fatal) of postsplenectomy sepsis occurring 14, 25, and 26 years after operation for hereditary spherocytosis are described. There are now 25 cases in the published work in which this complication occurred 10 or more years after operation, 14 of which were fatal. The mean age of onset is 37 years. The features of the disease are similar to those seen in other postsplenectomy infections, and pneumococcal infection was responsible in 19 cases (76%). The major predisposing illnesses were trauma, hereditary spherocytosis, and idiopathic thrombocytopenia.

Adult↗