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Biomedical subjects

O M Garson

Publications and source records attributed to O M Garson.

At least 91 records · Page 5Linked to original sources

Cytogenetics of acute lymphoblastic leukaemia in children as a factor in the prediction of long-term survival.

A chromosomal classification of 93 children with acute lymphoblastic leukaemia (ALL) is presented. The chromosomal categories were normal, hyperdiploid, pseudodiploid and hypodiploid: the chromosomally abnormal cases were classified according to the presence of an abnormal clone. The longest follow-up was 9 years. Infants and older children were over-represented in the pseudodiploid category: this association was statistically significant. Patients in the hyperdiploid and hypodiploid categories had the longest first remissions and overall survival and those in the pseudodiploid category the shortest. These effects were statistically significant even when the effect of age and leucocyte count were taken into account. Thus chromosomal findings at diagnosis in ALL can be used as an independent prognostic factor.

Adolescent↗

Retrospective analysis of 158 cases of adult acute leukaemia: factors influencing prognosis and treatment response.

Discriminant and regression analyses were employed to determine the influence of a large number of clinical and laboratory indices on outcome of treatment in a series of 158 adults presenting with acute leukaemia between 1970 and 1977. Induction therapy had been most commonly cytosine arabinoside plus daunorubicin, vincristine and prednisolone. This induced complete remission in 42% of non-lymphoblastic, and in 58% of lymphoblastic plus undifferentiated leukaemias. Some induction failures who had non-lymphoblastic leukaemia were treated with cytosine arabinoside plus 6-thioguanine, which induced remissions in 46%. Advanced age was the factor most strongly associated with failure either to achieve or to sustain complete remission. Thrombocytopenia, promyelocytic leukaemia, high percentage of marrow blasts, and absence of metaphases in marrow cytogenetic preparations were also associated with poor survival. A number of other factors which appeared to be associated with poor prognosis were found by the analysis to lack significance as independent variables.

Adult↗

3. The value of chromosome studies in the classification and management of the leukemias.

Chromosome identification techniques have shown the non-random nature of cytogenetic changes in leukemia. In addition, they have identified structural chromosome abnormalities occurring in specific types of acute leukemia as classified by the FAB criteria. Such cytogenetic sub groups are associated with differing prognoses. In acute lymphocytic leukemia, even the ploidy of the leukemic cells appears important in predicting prognosis. Identification of the Philadelphia (Ph1) chromosome has diagnostic significance in chronic granulocytic leukemia. This makes possible the classification of patients into Ph1 + and Ph1 - varieties which have different responses to therapy. Similar variations are found between the 2 groups of patients who do or do not develop additional abnormalities with blastic transformation. The implication of these findings in both acute and chronic leukemia may influence choice of therapy in the future.

Acute Disease↗

Chromosome studies of patients on long-term lithium therapy for psychiatric disorders.

Chromosome studies, including sister chromatid exchange techniques, were performed on blood samples from 23 patients receiving long-term, continuous lithium therapy for psychiatric disorders. Nineteen healthy, age-matched individuals were used as controls. No increase in chromosome damage was detected, when samples from the lithium group were compared with the control group samples.

Adult↗

Constitutive heterochromatin (C-banding) studies in patients with testicular malignancies.

The heterochromatic index [qh/(p + q) X 100] is a quantitative measure of variations in the heterochromatic regions of C-banded cells which minimizes differential contraction of heterochromatic and euchromatic areas. Heterochromatic indices of the homologues of chromosomes #1, #9, #16, and Y were studied in the genotypes of 48 patients with germinal tumors and in 30 controls. The heterochromatic indices of chromosome #9 in patients showed statistically significant heteromorphism compared with controls. In addition, the heteromorphism was found to increase from the lower malignancy seminoma to the highly malignant teratoma. A similar but statistically nonsignificant pattern was seen in chromosome #16. No statistical difference in the mean of the heterochromatic indices was found in chromosomes #1 and Y. The difference in the mean heterochromatic index in chromosome #9 appeared to be due to an increase in the mean heterochromatic index in chromosome #9 appeared to be due to an increase in the amount of constitutive heterochromatin and not to a decrease.

Adult↗

C-banding studies in patients with Ph1+ chronic granulocytic leukaemia.

The bone marrow chromosomes of 15 patients with Ph1+ chronic granulocytic leukaemia were studied, using both G- and C-banding. In all cases the Ph1 chromosome was formed by the translocation between chromosomes 9 and 22 and the material from chromosome 22 was found to be translocated randomly onto one or other of the pair of 9 chromosomes. Preliminary results suggest that when the translocation was on the 9 chromosome having a smaller C-band, additional abnormalities occurred in blastic transformation, whereas when the 9 chromosome with the larger C-band was involved in the translocation, additional abnormalities were not found in blastic transformation. These observations require confirmation from a larger series. C-banding also showed that there was a greatly increased heteromorphism of the C-band areas of the chromosome pair 9 in this disease, and an increased heteromorphism in the C-bands of chromosome pair 1, when compared with a control group.

Bone Marrow↗

Clinical findings in patients with numerical abnormalities of the X chromosome: a three-year survey of consecutive admissions to a general hospital.

A buccal smear study of 21,634 consecutive patients admitted to a general hospital was carried out over a period of three years. Twenty-eight patients were found to have an X-chromosome abnormality giving an over-all frequency of 1.3 per 1000. There were 19 males with Klinefelter's syndrome and nine females with triple-X syndrome. The sex chromosome abnormality had been diagnosed in only one patient before this study began, but examination after admission to hospital showed that the presence of small testes was an invariable finding in the postpubertal males with Klinefelter's syndrome. No other feature was found which could be considered diagnostic of an X-chromosome abnormality. The frequency of Klinefelter's and triple-X syndromes in this hospital population did not differ from the recorded frequency of these syndromes at birth.

Adolescent↗

The presence of mast cells in agar cultures.

Using a specific stain and electron microscopy, small numbers of mast cells were detected in human bone marrow cultures. However, they were not detected in agar cultures containing murine bone marrow cells. In bone marrow cultures from three patients with acute myeloid leukemia the number of mast cells was elevated.

Agar↗

Human adenosine deaminase and chromosome 20.

In patients exhibiting in marrow cells deletion of the long arm of chromosome 20, the specific activities of adenosine deaminase in cells of the peripheral blood are normal. This suggests that the gene for adenosine deaminase is not localized to the distal segment of the long arm of this chromosome.

Adenosine Deaminase↗

A variant chromosomal translocation found in a series of 24 patients with Philadelphia positive chronic granulocytic leukaemia.

The bone marrow chromosomes of 24 patients with Philadelphia positive (Ph 1) chronic granulocytic leukaemia (CGL) were studied using banding techniques. In 23 patients, the Ph(1) had been produced by the standard translocation between chromosomes 9 and 22, but in the remaining patient, the Ph(1) chromosome had been formed by a translocation between chromosomes 16 and 22. Clinical and haematological details of this patient are reported.

Chromosomes, Human, 21-22 and Y↗

Chromosome studies in users of spray adhesives.

Chromosome studies were performed on blood samples from eight male subjects stated to have had considerable exposure to spray adhesives in the course of their employment. Eleven healthy males were used as controls. No increase in chromosome damage was found in the exposed subjects compared with the control group.

Adult↗

Familial polycythaemia vera: a study of 3 sisters.

The familial occurrence of polycythaemia vera (PV) is rare, with only 3 authentic reports in the world literature. This paper describes a family of 8 females, 3 of whom have PV and another has pernicious anaemia. Clinical and haematological data is presented to support the diagnosis of PV and exclude other causes of familial erythrocytosis. Cytogenetic studies were performed in 2 of the patients.

Aged↗