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Os autores relatam um caso de leucemia linfoblástica aguda (ALL) que no exame citogenético de células da medula óssea apresentou manomalias cromossômicas já descritas nesta condiçäo del(6)(q23); t(9;22)(q34;q11), ao lado das alteraçöes cromossômicas del(4)(p14) + 4ace e t(4;15)(p14;pter) ainda näo relatadas em ALL. Discutem a hipótese destas alteraçöes influenciarem na origem da malignidade, na pobre resposta ao tratamento e mau prognóstico observado no paciente pela possível ativaçäo de oncogenes em consequência das anomalias observadas

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Numerous neoplastic states have associated or causal cytogenetic abnormalities. In some cancers, specific chromosomal abnormalities appear to correlate with the clinical characteristics and prognosis. Cytogenetic analysis of Hodgkin's disease is thought to be technically difficult and only a small number of cases with evaluable results have been reported. We have attempted cytogenetic studies of lymph nodes from 37 patients with Hodgkin's disease. In 29 of the 37 patients (78%), successful chromosomal analysis was accomplished. Chromosomal abnormalities were found in 13 patients (45%); five of these patients had been previously treated with chemotherapy. Numerical changes were found in all patients, most commonly involving chromosomes 5, 9, 15, 18, 22, X, and marker chromosomes. Seven patients also had structural abnormalities. The breakpoints 4q32-34, 6q24, 12q13, 12q23-24, and 13p11-13 were each seen in at least two patients. All but two patients had an admixture of normal cells. Three patients had two or more clones, and one had subclones. No statistically significant correlations between chromosomal abnormalities and clinical characteristics were demonstrated, although the number of patients in each subgroup was small. We conclude that chromosomal studies of Hodgkin's disease are likely to be successful. Additional studies are needed to correlate the karyotypical abnormalities in Hodgkin's disease with clinical and biological characteristics.

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The author outlines the recent advances in the field of developmental disabilities and discusses how these advances have expanded the role and scope of various professional groups. Genetic conditions and chromosomal aberrations, prenatal diagnosis, the infant at risk, and trends in assessing intelligence are detailed within the context of prevention. Treatment modalities are covered in detail.

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The therapeutic response and survival after the onset of the acute crisis in 64 patients with Ph1-positive chronic myeloid leukemia (CML) were correlated with the chromosomal findings during the course of the acute phase. The patients were divided into three groups on the basis of the chromosome findings in the bone marrow, blood, and spleen: i.e. those with only a Ph1 (PP), those having two types of clones, i.e. one clone with only a Ph1 and another with additional karyotypic changes (AP), and those with only abnormal clones containing karyotypic abnormalities in addition to the Ph1 (AA). The number of patients in each group was: 22 in PP, 25 in AP and 17 in AA. The results were as follows: (1) The percentage of patients with a good therapeutic response was 77 per cent (17/22) in PP, 60 per cent (15/25) in AP and 29 per cent (5/17) in AA and 2). The median survival after the onset of the acute crisis was 148 days (4.9 months) in PP, 183 days (6.1 months) in AP and 53 days (1.8 months) in AA. Statistically, there was a significant difference between the AA and the other two groups (P less than 0.001). Our observations suggest that the lack of a clone with only a Ph1 during the course of the acute phase (AA) indicates an unfavourable response and a poor prognosis after the onset of the acute crisis in CML.

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The review deals with technical considerations in relation to culturing and studying the chromosomes of leukemic cells. Specific and non-random chromosomal changes are described by the historic approach. Then follows a description of the application of chromosomal studies to diagnosis, progress and followup in the chronic and acute leukemias. A section is devoted to the application of chromosomal studies in bone-marrow transplantation. Finally, lines of research for leukemia using a genetic approach are suggested.

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Chronic refractory anemia associated with congenital hypoplastic anemia (CHA, Blackfan-Diamond syndrome) and with the 5q-syndrome may require chronic transfusion therapy to sustain life. Hemosiderosis and death from chronic iron overload may result from such a program. The effect of subcutaneous (SC) deferoxamine (DF) and supplemental oral vitamin C (vit. C) on urinary iron excretion was studied in two patients with congenital hypoplastic anemia and one patient with 5q-syndrome. In the two patients with CHA, urinary iron excretion in response to DF given SC over 24 hours was comparable to the results following intravenous (I.V.) administration. Both of these cases had low levels of plasma ascorbate on initial evaluation and excreted more iron in response to two different doses of DF after they had received supplemental vit C and their stores were repleted. Significant iron excretion occurred in all three patients for 12 hours during the SC infusion of DF and for 12 hours after the end of the infusion. In all three patients, increasing the dose of DF up to 3-4 g given SC over 12 hours resulted in a linear increase in iron excretion. Once normal body stores of ascorbate were achieved by oral supplementation, increasing doses of vit C did not appear to cause a further increment in iron excretion. DF administered by a slow SC infusion appears to be an effective approach to iron overload in patients with refractory anemia and hemosiderosis secondary to chronic transfusions. Only small amounts of supplemental vit. C necessary to sustain adequate body stores are required for optimal iron excretion.

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The major thrust of the worldwide effort on the disease entity cystic fibrosis is concerned with genetic, diagnostic and therapeutical questions and detection of the primary defect. The authors summarize new aspects presented at the VIIIth International Congress on Cystic Fibrosis in Toronto, Canada, 1980. Their aim is to inform about present knowledge on prenatal diagnosis and neonatal screening, to review clinical problems in the management of children with cystic fibrosis and, finally, discuss the future problems of adolescent and adult cystic fibrosis patients.

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A child with trisomy-18 is reported who had by the age of four years developed motor skills considerably more advanced than any abilities previously noted in other children with this disorder. It is not possible to demonstrate how far this improvement was due to natural development, to physiotherapy, to the parent's handling or to other causes. However, if the degree of parental understanding, stimulation and participation in treatment has a significant effect on a child's progress, then further attempts to assess the value of physiotherapy for children should take this factor into consideration.

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