Reducing waiting times associated with an integrated child health service.

Following an increase in average waiting times associated with a child health service in East London, an initiative to rapidly reduce the numbers of children waiting long periods following a referral was undertaken over the period May to June 1999. A multidisciplinary cooperative approach was adopted operating within the existing available resources and involved medical, nursing, managerial and administrative staff. The initiative involved a review of the accuracy of the waiting list, followed by an invitation to remaining patients to provide an option of continuing to wait to be seen or offering attendance at a rapid response clinic associated with reduced waiting and consultation times. Half-hourly appointments were routinely offered instead of hourly appointments and proformas were adopted for history taking and onward referrals to save time spent on administration. A total of 162 patients were seen over the course of a month and a satisfaction questionnaire completed by relatives indicated a preference for the new service. The mean waiting time was reduced to under a quarter of the time at the start of the initiative to a mean of less than two months. The purpose of the study was to see if the waiting list could be reduced by using existing staff. We wanted to ascertain the parents' views whether shorter waits and shorter consultation periods were acceptable, and to ascertain if the waiting list could be kept down or whether the waiting list would rapidly recur after the rapid response clinics stopped. The findings are discussed in relation to initiatives elsewhere and the need to maintain a high quality service.

Detection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome.

The Miller-Dieker syndrome (MDS), a syndrome with lissencephaly, distinctive craniofacial features, growth impairment, and profound developmental failure, has been associated with a deletion of the distal part of chromosome band 17p13. A minority of patients with the syndrome do not have a deletion detectable with current cytogenetic techniques. Using three highly polymorphic DNA probes (pYNZ22, pYNH37.3, and p144D6) we have detected microdeletions in three MDS patients, two of whom had no visible abnormalities of chromosome 17. Loci defined by two of the DNA probes, pYNZ22 and pYNH37.3, were deleted in all three patients. The most distal locus, defined by p144D6, was present in one MDS patient, possibly defining the distal limits of the MDS region in band 17p13.3. None of these loci were absent in one case of lissencephaly without MDS.

The gene for incontinentia pigmenti: failure of linkage studies using DNA probes to confirm cytogenetic localization.

Probes for restriction fragment length polymorphisms mapping between Xp21 and Xq22.3 have been used in a linkage study of incontinentia pigmenti (IP). Six independent sporadic cases of disorders resembling IP with X-autosome translocations involving the same X chromosome breakpoint (Xp11) have been reported. These observations suggest that the IP gene may be located in the Xp11 chromosomal region. However, the linkage study with DNA probes has failed to confirm this localisation.

Cytogenetic investigations on children with acute non-lymphocytic leukemia.

Cytogenetic data from 30 children with acute non-lymphocytic leukemia (ANLL) are evaluated in connection with patient's age, morphological type of leukemia and prognosis. In 20 out of 30 patients clonal chromosome aberrations were found. The frequency of chromosome aberrations and the prognostic parameters in the various morphological and age groups proved to be different and no direct relationship could be found in a given group between the frequency of aberrations and the prognosis. A more detailed analysis of data, however, provided some evidence that chromosome aberrations observed at diagnosis had a prognostic value independent of age and the morphological properties of blast cells: the normal karyotype and the pseudodiploidy proved to be of a favorable value but the hyperdiploidy and polyploidy an unfavorable prognostic parameter. Besides the known cytogenetic differences between childhood and adult ANLL, some similarities are also emphasized.

Prognostic factors in acute lymphoid leukaemia of childhood. I. Cytogenetic studies.

The results of chromosonal analysis of bone-marrow cells of 30 children with untreated acute lymphoid leukaemia are reported. On the basis of the modal chromosome number found in the cell clone showing the most frequent aberration, the patients could be classified into hypodiploid, pseudodiploid, hyperploid and normal groups. Pseudodiploidy predicted a poor prognosis while the survival rate of patients with normal or hyperploid chromosome counts was favourable.

Acute myeloid leukemia in childhood: 12 years experience of treatment in Hungary.

During the 12-year period between 1971 and 1982 leukemia was diagnosed in 759 children in Hungary. Of these, 123 (16%) had acute myeloid or myelomonocytic leukemia. This corresponds to an annual incidence rate of 6.15 cases per 10(6) children. Analysis of the presentation symptoms at diagnosis showed a higher incidence of septic signs but otherwise no difference to those in acute lymphoid leukemia. Treatment schedules were intensified successively in stepwise fashion. Remission rates rose from 34% to 66%, and remission lengths also improved. Of the prognostic factors analyzed, initial WBC count in excess of 50 G/1 was found to confer bad prognosis, while the other factors had no significant effect on disease-free survival.

Serum cholesterol and triglyceride levels in progeria as a model of ageing.

Hutchinson-Gilford progeria was observed in two brothers. Their parents, sister and other relatives did not show any signs of this illness. Serum total cholesterol and total triglyceride levels were normal in the whole family. The serum high density lipoprotein cholesterol (HDL-C) level of parents was low and that of boys was extremely low. The serum HDL-C level of the healthy sister and other relatives was normal. These findings in homozygous children and heterozygous parents may explain the development of the very early fatal arteriosclerosis described in this disease. The connection between the disorder of the lipid metabolism and progeria can serve as a useful model in the study of the role of lipid metabolism in normal ageing.

A genetic study of children with congenital heart defect.

Family history, anamnestic data concerning pregnancy and the incidence of minor and major malformations were examined in 213 children affected by congenital heart defect; a scoring system was elaborated for selecting patients for chromosomal study. The incidence of minor anomalies was not higher than among unselected healthy newborns; among children scoring 2 or more points there were two patients with chromosomal aberration and one with Noonan's syndrome. In 8% of 213 children major concomitant non-cardiac malformations were present. The incidence of congenital heart malformations among first-degree relatives amounted to 4.1%. Detection of familial cases is of utmost importance in genetic counselling.

Sister chromatid exchange in childhood malignancies.

Sister chromatid exchange studies were conducted in 53 children with malignant diseases. Children with acute lymphoid leukemia in long remission, already off chemotherapy or on maintenance therapy, had normal SCE values, whereas those receiving intensive cytostatic therapy showed elevated levels. SCE values were primarily related to the time and dose of preceding cytostatic drug therapy, and the subsequent relapse might influence the SCE frequencies, independently from the cytostatic therapy.

A search for an effect of ultrasound alone and in combination with X rays on chromosomes in vivo.

Experiments were aimed to establish whether therapeutic doses of ultrasound are liable to cause demonstrable chromosomal damage in marrow cells of the mouse. On evaluation of the chromosome aberrations no significant increase was found after treatment with three different doses of ultrasound. In contrast, our "positive control group" irradiated with 50 R of X rays showed clearly demonstrable chromosomal damage. In another group of animals treated with ultrasound plus X rays, the ultrasonic pretreatment did not increase the damaging effect of X rays significantly.

Cytogenetic analysis of X-ray-induced chromosome aberrations in spontaneously leukaemic AKR mice.

The increased frequency of numerical and structural chromosomal aberrations in spontaneously leukaemic AKR mice, compared with the values of healthy control CBA/H-T6T6 mice, induced by X-irradiation, migh be connected with the predisposition to malignant growth, probably indirectly helping the virus activation, or acting together with the immune deficiency, by creating a weaker system that is more sensitive to carcinogenic agents.