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Biomedical subjects

G R Standen

Publications and source records attributed to G R Standen.

49 records · Page 3Linked to original sources
PubMed1990

Chronic neutrophilic leukemia and multiple myeloma. An association with lambda light chain expression.

Two patients with plasma cell dyscrasia and IgG lambda paraproteinemia in association with the rare disorder, chronic neutrophilic leukemia (CNL), are described. Cytogenetic studies excluded Philadelphia + chronic myeloid leukemia and molecular analysis of the breakpoint cluster region (bcr) revealed no evidence of clonal gene rearrangement. Nine similar cases of coexistent CNL and paraproteinemia have been identified in the literature and attention is drawn to the disproportionate excess of lambda light chain restriction in this subset of patients. Evidence supporting a clonal origin of CNL is considered and the nature of the relationship between the chronic myeloid expansion and the development of multiple myeloma is discussed.

Aged↗
PubMed1990

Family studies in von Willebrand's disease by analysis of restriction fragment length polymorphisms and an intragenic variable number tandem repeat (VNTR) sequence.

We have previously identified a microsatellite variable number tandem repeat region of the nucleotide sequence ATCT within intron 40 of the von Willebrand factor (vWF) gene. By polymerase chain reaction (PCR) amplification of this region, eight major alleles have been demonstrated in the South Wales population, with an overall heterozygosity rate of 75%. Direct sequencing has shown that the alleles correspond to lengths of between six and 14 ATCT repeats. In the present study we describe the use of this variable repeat sequence and previously reported restriction fragment length polymorphisms (RFLP) to study inheritance patterns in families with type I, IIA and severe type III von Willebrand's disease (vWD). The results confirm that analysis of this precisely localized intragenic locus provides a highly informative marker for gene tracking studies in the major forms of vWD.

Base Sequence↗
PubMed1990

Wiskott-Aldrich syndrome: fatal consequences of splenectomy in an unrecognised attenuated variant.

Monozygotic twin males with an attenuated variant of the Wiskott-Aldrich syndrome (WAS) are described. Diagnostic features included moderate thrombocytopenia with small platelet size and abnormal platelet aggregation responses, chronic eczema, depressed serum IgM and low isoagglutinin titre. Splenectomy was performed on one twin at age seven years who survived a complicating pneumococcal septicaemia ten days after the procedure, but who succumbed to fulminating infection three years later. The importance of recognising the attenuated variants of WAS is discussed.

Child↗
PubMed1989

Myelodysplastic syndrome with trisomy 8 in an adolescent with Fanconi anaemia and selective IgA deficiency.

We describe a patient with growth failure and multiple congenital anomalies characteristic of Fanconi anaemia, but without the classical feature of progressive bone marrow hypoplasia. Following treatment with growth hormone for a period of 8 years, he presented with myelodysplastic syndrome and a karyotypically abnormal clone in the bone marrow (47,XY,+8). The diagnosis of Fanconi anaemia was supported by the induction of abnormally high levels of characteristic chromosome aberrations in peripheral lymphocytes following exposure in vitro to the bifunctional alkylating agent mitomycin C. Immune function studies also identified a selective IgA deficiency. The relative importance of interacting constitutional and exogenous factors involved in the development of preleukaemia in this patient is discussed.

Adolescent↗
PubMed1987

Production of hemopoietic growth factors and gamma-interferon by large granular lymphocytes from patients with T gamma lymphocytosis.

Two patients with T gamma lymphocytosis in whom expanded large granular lymphocyte (LGL) populations were detected in peripheral blood and bone marrow are described. The surface antigen phenotypes of the LGL from these patients were similar with a major portion of cells carrying T3, T8, T11 and Leu7 markers. However, whereas fresh LGL from both patients demonstrated antibody-dependent cell cytotoxicity (ADCC), natural killer (NK) cell function was present in one case but absent in the other. Supernatants from enriched suspensions of the LGL unstimulated by exogenous antigen or mitogens were shown to contain significant amounts of hemopoietic growth factors colony-stimulating activity (CSA) and burst-promoting activity (BPA). In one case gamma-interferon was also detected. This study contributes to the accumulating evidence that LGL are able to generate factors which have the capacity to influence the proliferation of hemopoietic progenitor cells in vitro.

Colony-Forming Units Assay↗
PubMed1987

Epstein's syndrome: case report and survey of the literature.

A diagnosis of Epstein's syndrome was made in a young female with congenital macrothrombopathic thrombocytopenia, a nephropathy and mild sensorineural deafness. Previous case reports of this rare disorder are briefly reviewed and attention is drawn to the frequent association between inherited thrombocytopenia and renal disease.

Adult↗
PubMed1986

Inherited thrombocytopenia, elevated serum IgA and renal disease: identification as a variant of the Wiskott-Aldrich syndrome.

A kindred with X-linked hereditary thrombocytopenia in association with elevated serum IgA and a mild nephropathy is described. Thirteen males with thrombocytopenia were identified in three generations amongst 49 family members who were available for screening. Serious infective sequelae were absent but five patients had suffered from severe eczema since infancy. The platelet volume as measured by an automated counter and electron microscopy was reduced compared with normal and in vitro tests demonstrated minor abnormalities of immune function in three patients. The disorder is identified as a novel variant of the Wiskott-Aldrich syndrome and comparisons are made with previously described kindreds showing different patterns of expression.

Adult↗
PubMed1980

Effect of daily administration of cytotoxic drugs on the erythroid and granulocytic repopulating ability of rat bone marrow.

The erythroid and granulocytic repopulating ability of rat bone marrow has been measured after daily administration of three alkylating agents: dimethylmyleran, busulphan and cyclophosphamide. Three different patterns of response were observed. The results emphasize the variability of the response of haemopoietic tissue to repeated administration of different cytotoxic drugs and provide further evidence that erythroid and granulocytic repopulating assays measure different populations of precursor cells.

Animals↗