Biomedical subjects
Publications and source records attributed to J R Mann.
Analysis of information obtained in an inter-regional epidemiological study by interviewing the parents of 555 children with malignancy diagnosed between 1980 to 1983 and the parents of 1110 control children did not reveal any significant association between exposure to ultrasound examination in pregnancy and risk of childhood cancer.
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From November 1977 to July 1983, 82 children with T leukaemia/lymphoma entered a randomised trial of combination chemotherapy and radiotherapy. Twenty-five were designated T lymphoma and 57 T leukaemia, 28 having greater than 100 x 10(9)1(-1) blasts in peripheral blood at diagnosis. Twenty-seven patients with mediastinal primaries who were treated on the companion non-Hodgkin lymphoma (NHL) trial were comparable in all respects to the T lymphoma patients and the results of treatment were therefore combined and analysed together. Overall 4-year survival (48-53%) and failure-free survival (FFS) (37-40%) were similar in all groups except the 28 with T leukaemia and WCC greater than 100 X 10(9)1(-1) (20% and 13%). There was a significant advantage in FFS for patients randomised to receive low dose mediastinal radiation, and this was most marked in patients with T lymphoma (66% vs 18%, P = 0.006).
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A study of the results of treatment of acute lymphoblastic leukaemia in Asian (Indian and Pakistani) children living in the United Kingdom showed that they had a poorer prognosis than native white children due mainly to deaths during remission. Similar proportions of Asian and white children suffered relapse. Lower socioeconomic status, poor nutrition, and difficulties in communication may have contributed to the worse outcome in the Asian children.
Serum dopamine-beta-hydroxylase (DBH) activity has been reported to be raised in some patients with neuoblastoma but this has been challenged. We have studied serum DBH levels on 26 children with neuroblastoma and 58 age-matched controls. Only in 2 patients were the levels higher than in the controls, and then only transiently. In both, the rise in DBH levels could be accounted for by the transfusion of adult blood. Serum DBH levels in children with neuroblastoma were unrelated to the response of this neoplasm to treatment or to urinary catecholamine output and thus are unlikely to have any value in diagnosis or as a marker of tumour activity.
We have identified five children with hepatoblastoma who have a family history of polyposis coli affecting the mother and maternal relatives. We believe that the familial association of these two conditions is unlikely to have occurred by chance. Cytogenetic studies on three of the families have shown no evidence of a chromosomal abnormality.
Five phenotypic females in one family had the genotype 46,XY and all had gonadal germ cell tumours. Studies of the family pedigree suggest that this form of XY gonadal dysgenesis is inherited in an X linked recessive manner. G banding of elongated metaphase chromosomes from two subjects with XY gonadal dysgenesis and a female carrier showed no aberrations of the X chromosome. The titres of H-Y antigen in three girls with XY gonadal dysgenesis were in the male control range. Thus it appears that, in the X linked form, XY gonadal dysgenesis may be caused by a point deletion or mutation of a gene on the X chromosome, which controls the gonad specific receptor for the H-Y antigen. Studies of Xg blood groups were uninformative about linkage of Xg with the X borne gene causing the XY gonadal dysgenesis. Dermatoglyphic studies in the girls with XY gonadal dysgenesis and female carriers revealed high a-b palmar ridge counts and a tendency for the A mainline to terminate in the thenar area. Both of these features have been described in patients with Turner's syndrome.
Fifty-nine of 73 families of children referred for treatment of cancer during 1980 co-operated in a study of the financial consequences of the illness. Except for two social class I families who declined to take part, the sample was representative of the childhood cancer population and families were of similar socioeconomic status to the general population. During the first, inpatient, week week of treatment the sum of income lost plus additional expenditure exceeded 50% of total income in over 45% of families. During a subsequent week of outpatient treatment, loss of income plus additional expenditure amounted to more than 20% of income in over half the families. These problems affected all the groups studied and were not confined to lower paid or those living furthest from the centre. Financial help was available from charitable sources and the DHSS towards travel, extra nourishment, and heating costs but could not be obtained to compensate for loss of earnings. The families of children who died had difficulty in meeting the cost of funerals. Families of children with cancer need more help than is at present available, especially to offset loss of income and the cost of funerals.
During 1978-81 there were about 43,500 births in Birmingham, of which 10.3% were to Negroes and 22.6% to Asians. Cellulose acetate electrophoresis of red cell haemolysates from capillary specimens collected for phenylketonuria screening was performed for these babies to assess the feasibility, cost, and benefits of detecting sickle haemoglobinopathies early. Eight babies had important haemoglobinopathies; four were homozygotes for haemoglobin S (HbS), three were mixed heterozygotes for HbS and haemoglobin C (HbC), and one had haemoglobin E (HbE) and beta-thalassemia. Also, 534 (1.19%) were heterozygotes for HbS or haemoglobin D (HbD) and 205 (0.46%) for HbC or HbE, 453 (1.01%) were heterozygotes with a fast-moving band, one was a heterozygote for haemoglobin Norfolk, and one a heterozygote for both HbS and haemoglobin G Philadelphia. The cost of neonatal screening for haemoglobinopathies was 12.5 p per baby (705 pounds for each serious abnormality).
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Lysyl oxidase activity in extracts of skin from 1-day-old Mobr/Y mice was found to be between 50 and 60% of that in corresponding extracts from littermate +/Y mice of the same age. It was increased to 84-150% of that in the latter by prior treatment of the Mobr/Y mice at 7 days of age with a single subcutaneous injection of 50 micrograms of copper, retained as Cu+ in an alkyl polyether/sebacic acid solution. This suggests that in this form the copper is able to by-pass the block in copper metabolism and is deliverable to copper-requiring processes.
Thirty-three children aged between 1 month and 16 years (median 1 year, 7 months), were treated for stage II neuroblastoma with surgery, radiotherapy, or chemotherapy, alone or in combination. After 3 years 70% were living, 6 children had died from the disease, and 4 had died as a result of treatment. Patient characteristics (age, gender) and tumour characteristics primary site, presence of lymph node involvement, catecholamine excretion, histology) were reviewed in an attempt to determine prognostic features. While age under 1 year at diagnosis was, as expected, favourable in this series, the most important prognostic variable was the presence or absence of regional lymph node involvement. No patient with uninvolved nodes died of neuroblastoma and the difference in the 3-year survival rate between these patients and those with positive nodes was statistically significant. Although this study of patients treated between 1970 and 1977 provided no clear evidence that either postoperative radiotherapy or contemporary chemotherapy was of benefit, our findings suggest that subclassification of stage II patients into 'node-positive' and 'node-negative' groups will help to define those who might benefit from improved adjuvant postsurgical treatment.
A survey carried out to detect children with aniridia/Wilms's tumour syndrome identified 8 living and 3 dead children. The incidence of aniridia was found to be 1 in 43 among Wilms's tumour patients in the UK. The clinical features included complete bilaterial aniridia, cataracts, glaucoma, mental retardation, hyperkinesis, hypospadias, and undescended testes. A high incidence of bilateral tumours (36%), male sex, presentation at a young age, and advanced maternal age appeared to be associated with the syndrome. The 8 living children each had a deletion on the short arm of chromosome 11. In contrast, although 2 patients with sporadic aniridia without Wilms's tumour had other malformations, neither had genitourinary anomalies, and the only additional problems in patients with familial aniridia were cataracts. Among 49 children with Wilms's tumour without aniridia ony one had bilateral tumours. No chromosome abnormalities were detected in patients with familial aniridia, nor were they detected in patients with Wilms's tumour without aniridia or in those with sporadic aniridia without Wilms's tumour. While many infants with the Wilms's tumour/aniridia syndrome are clinically diagnosable at birth, chromosome analysis using the elongated chromosome method is especially valuable to confirm the diagnosis in girls with sporadic aniridia and in boys who lack the genitourinary malformations. The presence of an 11p13 deletion confirms the diagnosis of the Wilms's tumour/aniridia syndrome and indicates a very high risk for the development of Wilms's tumour.
An 11-year-old Indian girl living in England developed proptosis due to tuberculosis of the orbit. The proptosis regressed and she recovered fully after chemotherapy. While malignancy, developmental anomalies, and nontuberculous infections are commoner causes, a tuberculin test should be included among the investigations of children with proptosis.
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1. Copper concentrations were low in many organs of Moblo/Y mice, but very high in the gut. Absorption of 64Cu was seen to be very low when related to the absorption of cyano[57Co]cobalamin. The results in Moblo/+ mice were intermediate. 2. Copper therapy temporarily ameliorated many effects of the mutation in Moblo/Y mice, but did not improve the rate of weight gain as has been achieved previously in Mobr/Y mice. Lower capacity for a 'depot dose' effect at the site of injection may explain the difference. 3. The distribution of 64Cu after administration into the bloodstream of Moblo/Y mice altered from an initially normal state to one that resembled the abnormal distribution of pre-existing copper by 48 h. This indicated that the later mechanisms of copper distribution were at fault. Moblo/+ mice were equally affected. 4. The alteration of copper homoeostasis in blotchy mice was similar to that observed in brindled mice previously and in the present studies, although generally less severe. This is consistent with allelism of the two mutations.
A 2-year-old male with acute lymphocytic leukemia died with histiocytic reticulosis 19 weeks later. A comparison with previously reported cases is made, and the relationship of ALL and HMR is discussed.