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2.  A family study of isolated cleft palate. 
Journal of Medical Genetics  1982;19(5):329-331.
A family study was based on 245 boy and 329 girl patients treated surgically for non-syndromic cleft palate between 1920 and 1929; 86 and 81 respectively were traced and had had children. These 167 were the probands for the family study and were interviewed in their homes. None was born to a consanguineous marriage. Altogether they had had 384 children of whom 11 had cleft palate (2.9 +/- 0.9%). They had 398 sibs of whom five had cleft palate, 117 grandchildren of whom one was affected, and 517 nephews and nieces of whom one was affected. This is the largest series yet available on which to base an estimate of the risks to children of patients with non-syndromic cleft palate. The risk is probably increased where a parent or sib of the proband is affected and increased to a lesser degree where a second or third degree relative is affected. The family patterns in these and other studies suggest that the aetiology of cleft palate is heterogeneous, with some families showing modified dominant inheritance. This is in contrast to cleft lip (+/- cleft palate) where the data are consistent with a multifactorial threshold model.
PMCID: PMC1048915  PMID: 7143384
3.  A three generation family study of cleft lip with or without cleft palate. 
Journal of Medical Genetics  1982;19(4):246-261.
A family study of cleft lip, with or without cleft palate, was based on those treated by operation at The Hospital for Sick Children, London, between 1920 and 1939 in order to give information on the proportion affected of children and grandchildren. The probands were those who had survived, were successfully traced, and found to have had at least one child. Care was taken to exclude patients who were traced through a child, whether normal or affected, and not through the usual tracing procedure. Patients with recognised syndromes were also excluded. Because the series was based on patients who had survived and reproduced it was biased in favour of those with milder degrees of the malformation, and against those with any severe associated malformation. The proportion affected of children of probands was 3.15% (+/- 0.56), of sibs 2.79% (+/- 0.52), and of parents 1.18% (+/- 0.37), respectively. The lower proportion of parents affected is attributed to reduced reproductive fitness of patients born two generations ago. The proportion affected of nephews and nieces, aunts and uncles, and grandchildren was 0.47% (+/- 0.18), 0.59% (+/- 0.13), and 0.8% (+/- 0.6) respectively. The proportion affected of first cousins was 0.27% (+/- 0.08). The birth frequency of cleft lip (+/- cleft palate) is estimated to be about 0.1% in England. There were two first cousin and one second cousin marriages among the marriages of the parents. There was no increase of cleft palate among the relatives of the probands. The proportion of sibs affected increased with increasing severity of the malformation in the proband, where the proband was female, and where the proband had an affected parent or already had one affected sib. It was not, however, increased where a more remote relative was affected. The proportion of children affected was not increased when the proband had an affected parent or sib, but few families provided information. The most economical hypothesis to explain the findings is the multifactorial threshold model. The birth frequency of the malformation and the family patterns found make it improbable that one single mutant gene makes a major contribution to the liability to develop the condition.
PMCID: PMC1048889  PMID: 7120312
4.  Microtube coagulase test for detection of coagulase-positive staphylococci. 
Journal of Clinical Microbiology  1982;15(5):848-851.
Studies were performed to determine the sensitivity and specificity of a new microtube method for the detection of coagulase production by Staphylococcus aureus. Rabbit plasma containing EDTA was added to and lyophilized in API microtubes. Two standard coagulase plasmas containing EDTA were used in the conventional macrotube test and served as a basis for comparison. No false-positive or false-negative reactions were encountered with the microtube system. With this system, 53% of the coagulase-positive strains tested were detected within 1 h after inoculation, 82% were detected after 2 h, 97% were detected after 3 h, and 99% were detected after 4 h. With the first conventional method, 45, 81, 96, and 98% of the positive strains were detected in 1, 2, 3, and 4 h, respectively, whereas with the second conventional method, only 6% of the positive strains were detected in 1 h, 24% in 2 h, 66% in 3 h, and 81% in 4 h. With the microtube method, 5 of the 139 coagulase-producing strains studied reverted to negative between 5 and 24 h after inoculation, whereas 9 reverted with the more rapid conventional method, and no reversions occurred with the second conventional method. All reversions involved strains which caused gelation of plasma within 1 h after inoculation. The data obtained showed that 99% of the coagulase-positive strains tested could be detected within 4 h by the microtube method. In addition, the microtube method offers a more convenient and economical format for the performance of the coagulase tube test.
PMCID: PMC272200  PMID: 6808014
5.  Fourth goal of perinatal medicine. 
Reduction in maternal mortality, infant mortality, and infant morbidity have been successively the goals of perinatal medicine. The fourth is to reduce bonding failure. In July 1978 a preventive service was started in the John Radcliffe Maternity Hospital. A twice-weekly round is made. Midwives refer families who cause them concern. In the first year the referral rate ws 20.5 per 1000 liveborn babies. The referred sample differed from the hospital population in terms of maternal psychiatric history, marital state and babies' admission to special care. The main reasons for referral were: doubt about parenting ability (27%), psychiatric history (15%), disturbed behaviour in hospital (14%), and diffuse social and medical problems (17%). Long-term care was needed for only 14% of families. At their first birthdays, six babies were placed away from their natural parents; the sample had had a slightly higher than expected admission rate to hospital; the distribution of weights did not differ from the expected; doctors and health visitors were still concerned about one-quarter of the families. Seven cases of screening failure were found among those not referred to our service, but only one was seriously abused. No child referred in the first year has been seriously neglected or abused.
PMCID: PMC1496275  PMID: 6802338
6.  Comparison of the polyoma virus early and late promoters by transcription in vitro. 
Nucleic Acids Research  1982;10(3):871-887.
Polyoma virus DNA was transcribed in the HeLa whole cell extract in vitro system (1). Early region transcripts with the same 5'-ends as in vivo mRNAs, located 31 +/- 2bp from 'TATA'-boxes, were synthesized by RNA polymerase II. Sequences sufficient for efficient expression of the early promoter were present in a substitution mutant lacking viral DNA from a position 55bp before the principal cap sites. Late region transcripts were synthesised inefficiently. Only one (at nt5129 +/- 2) of the many late mRNA cap sites functioned as an in vitro initiation point. This was the one 5'-end located 31 +/- 2bp from a sequence resembling the 'TATA' consensus. The proportion of late to early region RNA polymerase II transcripts decreased dramatically at suboptimal template concentrations. An hypothesis to explain the regulation of late gene expression in vivo based on these results is proposed. A linear templates were transcribed only by RNA polymerase II, transcripts with the same sense as late mRNAs and 5'-ends at nt5076 +/- 2 were produced from superhelical template by an alpha amanitin resistant enzyme.
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PMCID: PMC326208  PMID: 6174941
7.  Psychological and social evaluation in cases of deliberate self-poisoning seen in an accident department. 
The outcome in 115 consecutive patients with mild self-poisoning seen by junior medical staff and discharged from the accident department was compared with that of 98 similar patients admitted to the medical wards. Psychiatrists saw only four patients in the accident department and 25 admissions. In making their assessments the junior medical staff considered psychosocial factors as well as the patients' physical condition. Most patients recommended for further care, and discharged from the accident department, subsequently received it. Repetition rates were similar in the two groups and there had been no suicides when patients were followed up at one year. It is feasible for junior staff in an accident department to decide whether patients with self-poisoning need admission or may be discharged with or without subsequent referral for psychiatric or social work help.
PMCID: PMC1496033  PMID: 6800509

Results 1-7 (7)