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Biomedical subjects

C Rudduck

Publications and source records attributed to C Rudduck.

11 recordsLinked to original sources
PubMed1992

Two malignant peripheral primitive neuroepithelial tumor cell lines established from consecutive samples of one patient: characterization and cytogenetic analysis.

A 6-year-old girl presented with a tumor of the right shoulder involving bone, adjacent soft tissue, and regional lymph nodes. The conventional histologic diagnosis was ambiguous, initially suggesting lymphoma. After relapse on lymphoma therapy, reevaluation with additional multiple diagnostic techniques performed on the biopsy tissue and on two cell lines derived from the biopsies established the diagnosis of a primitive neuroepithelial tumor of bone and soft tissue. This was strongly supported by 1) focal rosette formation by the tumor cells and positive immunostaining for neuron-specific enolase and synaptophysin, with absent staining for leukocyte common antigen; 2) at the ultrastructural level, formation of cellular processes containing microtubules, a paucity of neurosecretory granules, absence of synaptic junctions, formation of long "intermediate" junctions between cells, and, in culture, widespread development of rosettes; 3) marked surface positivity to W 6/32 and negativity to HSAN 1.2 antibodies; and 4) elevated expression of MYC and lack of overexpression of MYCN oncogenes. Numerical and structural abnormalities were present in the karyotype, but the expected t(11;22)(q24;q12) was not present in the tumor-involved marrow or in either of the established tumor cell lines, although there was an interstitial deletion of 11q involving breakpoints in q21 and q23.

Biomarkers, Tumor↗
PubMed1992

Chromosomal localization of amplified N-myc in neuroblastoma cells using a biotinylated probe.

G-banded chromosome analysis of neuroblastoma cells from two children revealed homogeneously staining regions (hsr) in one patient and double minutes (dmin) in the other. Subsequently, both abnormalities were confirmed as areas of N-myc amplification using chromosomal in situ hybridization with a biotinylated N-myc probe. In addition, the first patient's karyotype contained a possible derivative chromosome 17, which was also demonstrated to contain amplified N-myc, indicating the presence of an hsr unidentified by G-banding. Intercellular heterogeneity in the degree of amplification was also identified in the nuclei of interphase cells. This technique provides a quick method for detecting gene amplification, the identification of which may have useful clinical implications.

Abdominal Neoplasms↗
PubMed1992

Detection of MYCN amplification in three neuroblastoma cell lines by non-radioactive chromosomal in situ hybridization.

A non-radioactive chromosomal in situ hybridization technique utilizing a biotin-streptavidin-polyalkaline-phosphatase complex was successfully applied to three neuroblastoma cell lines for detection of MYCN amplification. These cell lines, designated PER-106, PER-107, and PER-108, were derived from consecutive bone marrow samples taken from a patient with stage IV neuroblastoma. The cell line derived at diagnosis (PER-106) exhibited MYCN amplification in the form of variable numbers of double-minute chromosomes, small fragments, and rings of varying sizes. This observed variability of MYCN amplification may explain the reported heterogeneity of both MYCN mRNA and protein expression among individual cells of some neuroblastomas. The cell lines derived from subsequent samples (PER-107 and PER-108) contained amplified MYCN as two consistent homogeneously staining regions in every cell. These were located on the short arms of chromosomes 6 and 14. Thus, amplified MYCN was identified in each cell line and demonstrated the concurrent evolution of amplification with cytogenetic abnormalities.

Biotin↗
PubMed1991

Mitochondrial genome distribution in histochemically cytochrome c oxidase-negative muscle fibres in patients with a mixture of deleted and wild type mitochondrial DNA.

In situ hybridization studies were performed on a series of chronic progressive external ophthalmoplegia patients harbouring large mitochondrial DNA deletions, using intra- and extra-deletional probes. Clear differences in the distribution of wild type and deleted mitochondrial genomes were seen in both ragged-red and non-ragged red, cytochrome c oxidase-negative fibres, with an accumulation of deleted genomes in the subsarcolemmal zone. Wild type genome content was normal or decreased in the cytochrome c oxidase-negative regions of one case, but in two patients, wild type mtDNA content in cytochrome c oxidase-negative regions was either normal (most fibres) or increased (occasional fibres). The latter observation suggests there may be a stage in the natural history of ragged-red fibre evolution where wild type genomes are transiently increased. The significance of this finding is discussed.

Base Sequence↗
PubMed1989

The proportion of erythroid mitoses in normal human bone marrow in short-term culture systems.

The proportion of erythroid cells in mitosis was determined in direct preparations and in synchronized and unsynchronized short-term cultures from normal human bone marrow. The stimulating effect on the proportion of erythroid mitoses of bovine serum albumin (BSA), erythropoietin (EP) and human leucocyte conditioned medium (HLC) derived from stimulated lymphocytes, was also analyzed in short-term marrow cultures. In synchronized and unsynchronized cultures, the proportion of erythroid mitoses was markedly lower than in direct preparations, with a mean of 75% in the direct compared to 11% in the unsynchronized cultures and 7% in synchronized. Statistical analysis showed that EP had a substantial influence on the erythroid cells while HCL had a minor effect.

Bone Marrow Cells↗
PubMed1985

Gc serum groups in schizophrenia.

Gc subtypes were studied by isoelectric focusing in schizophrenic patients and controls. No significant differences between patients and controls were found. The results so far on Gc groups and schizophrenia show no consistent pattern and the significant associations reported have not been confirmed.

Blood Protein Electrophoresis↗
PubMed1985

Haptoglobin and transferrin types in schizophrenia.

Haptoglobin and transferrin types were studied in schizophrenic patients and controls. In the haptoglobin system a significant departure from the Hardy-Weinberg equilibrium with an excess of heterozygotes was found among the patients (p less than 0.01). The distribution of haptoglobin types in the schizophrenic patients was significantly different from that in the controls. The distribution of transferrin types showed a good agreement with the Hardy-Weinberg equilibrium. There was no significant difference between patients and controls with respect to transferrin types.

Gene Frequency↗
PubMed1985

Alpha 1-antitrypsin types in schizophrenia.

The gene and phenotype frequencies of alpha 1-antitrypsin were studied in patients with (49) and without (92) a family history of schizophrenia. A significant difference with respect to phenotype (p less than 0.05) and gene (p less than 0.025) frequencies was found between the two groups of patients. Among patients with a family history of schizophrenia there was a significant increase of the M1 gene and a decrease of the M2 gene. There were no significant differences between schizophrenic patients and controls.

Gene Frequency↗
PubMed1985

Complement factor C4 in schizophrenia.

The complement factor C4 was studied in 165 schizophrenic patients and in 330 controls. A highly significant increase in the frequency of C4B deficiency (BQO) was found among the schizophrenic patients compared with controls (p less than 0.0005).

Complement C4↗
PubMed1985

C3 and C6 complement types in schizophrenia.

C3 and C6 complement types were studied in schizophrenic patients and controls. The distributions of the three common C3 types (F, FS and S) among the patients was significantly different from that in the controls (p less than 0.005) and the frequency of the C3F gene was significantly increased (p less than 0.0005) among the patients. There were no significant differences in C6 gene or phenotype frequencies between patient and controls.

Complement C3↗