- Email: [email protected]
RETINOBLASTOMA AND D-CHROMOSOME DELETIONS
1376 who leave it too late. Is their loneliness and agony of mind a symptom of this happy world of mutual tolerance "? He thinks that I disqualify myself from helping the young. I can assure him that they come to me in an endless stream. They come precisely because I am old and tolerant and they are young and bewildered. The main burden of my argument is that society should provide the kind of help I give, and does not. In the long run, Western society will perish unless it again finds a sense of purpose, such as it had when I was young. Of course we were wrong in many things. I have said that I do not like the society I have helped to make. Mine is a share of the guilt. The world today and especially the young-who are the products not of innate weakness but of the upbringing we give them-do not even believe in belief. Unless we recover it, we deserve to be doomed. In the meanwhile we have to try to make-and-mend. I am objecting not only because we fail to provide, for instance, an adequate school counselling service, but also because so much of the pitifully inadequate service we do provide is often complacent, and even collusive, of the spiritual nihilism which underlies the maladies we seek to cure. I darkly suspect Dr. Ryle of the very nihilism which I deplore; but I still wish there were many more like him. I am angry with his views; but not with him. I am only hostile to the people, the great mass of people, who just don’t want to know ". "
"
Old Mill House,
Selsey, Sussex.
HENRY BRINTON.
TREATMENT AFTER EXPOSURE TO COLD
SiR,—The letters of Dr. Hillman and Dr. Leathart (Dec. 4, p. 1257) both make the point that the diagnosis of death from exposure made at the site of the tragedy is not satisfactory. Even at temperatures of 18 °Call the normal measures of life may be absent-e.g., peripheral pulse, respiration, pupil size and reaction, and corneal reflex. If helicopters are being used it would seem logical to fly all victims of hypothermia to a base hospital for attempted resuscitation. In Edinburgh a method of actively rewarming hypothermic patients by heated gases is being investigated. The method utilises the heat produced by the interaction of carbon dioxide and soda lime, and the oxygen breathed is heated by passage through the soda lime. The results so far are very encouraging: there is no after-drop of core temperature and the cardiac function is the first to improve. This method has been designed to be a portable method of central rewarming as a first-aid measure-e.g., on the mountain 3-but more efficient methods are available for use in hospital 4,5 using oxygen/helium mixtures, which have a high coefficient of heat transfer. Over a certain temperature range movement of the patient may cause death,6 and it may be necessary to measure the core temperature before deciding which patients should be flown at once to base hospital and which should be resuscitated on the spot. To do this a thermometer which measures core temperature from the intact skin surfacewould be ideal, but a portable thermister œsophageal or rectal probe thermometer would be adequate Department of Anæsthetics, The Royal Infirmary, 1. 2. 3.
E. LL. LLOYD. Edinburgh EH3 9YW. Laufman, H. J. Am. med. Ass. 1951, 147, 1201. Lloyd, E. L. Unpublished. Lloyd, E. L., Concliffe, N. A., Orgel, H., Walker, P. N. Unpub-
4. 5. 6. 7.
Henderson, M. A., Pettigrew, R. T. Lancet, 1971, i, 1275. Pettigrew, R. T., Lloyd, E. L. Unpublished. Freman, J., Pugh, L. G. C. E. Int. Anesthesiol. Clin. 1969, 7, 997. Fox, R. H., Solman, A. J. J. Physiol. 1970, 212, 8.
lished.
RETINOBLASTOMA AND D-CHROMOSOME DELETIONS SIR,-Your editorial (Nov. 6, p. 1016) prompts us to give more ample evidence of the hypothesis that a locus on the long arm of a D chromosome is concerned in the development of retinoblastoma. A combination of techniques identifies the deleted part in our patient most probably as the broader of the two bands on the distal portion of the long arm of chromosome 13. The patient was admitted for an internal strabismus due to bilateral retinoblastoma. There was no mental retardation, and the only congenital abnormalities were bilateral clinodactyly and cleft uvula. The father had a bilateral cleft lip and palate. in all mitoses 01 pnytonaemaggmunmstimulated lymphocytes and directly processed bone-marrow cells a deletion of the long arm of a D chromosome was present. This was identified by auto-
radiography, quinacrine fluorescence, and analysis of the D.N.A. d-r Giemsa banding pattern1 as chromosome 13. As can be seen in the figure, the missing part is the broadest of the three bands normally present on that arm. The chromosomes of the parents were normal. According to the literature, the deletion of the long arm of a D chromosome gives a distinct clinical picture, depending on the pair involvedof Banding pattern multiple congenital malformations in the normal (A) and the 13q- syndrome 2-4 and a lack of deleted (B) chromomajor abnormalities in 14q-.4 Only some 13. two retinoblastoma patients have been described in whom the deletion could be assigned by autoradiography to one of the three pairs of chromosomes in the D group. One patient3 with a typical 13q- syndrome had a 13r complement. The other patient had no severe congenital malformations and displayed a 14q- karyotype.5 Our patient resembles the latter in having no clinical features which might suggest a 13q- syndrome. Nevertheless, the deletion involved the middle portion of the long arm of a chromosome 13. E. ORYE Pædiatric Clinic, M. J. DELBEKE State University of Ghent, B. VANDENABEELE. Belgium.
DIALYSIS-INDUCED HYPERGLYCÆMIA
SIR,-Dr. David and his colleagues (Nov. 13, p. 1092) that hypoglycaemia may occur in patients receiving large doses of dextrose in the dialysate. It is interesting to state
have also had hyperglycaemia when in used these quantities for peritoneal dialysis glucose and heemodialysis. 6,7 Large amounts of dextrose in the dialysate have led to potassium depletion, which may cause impaired glucose tolerance in normal (euglycsemic) and diabetic patients. While frequent injections of small amounts of regular insulin have corrected the hyperglycamia in diabetic patients,supplemental potassium was
note
that
patients
was
Schnedl, W. Nature New Biol. 1971, 233, 94. Allderdice, P. W., Davis, J. G., Klinger, H. P., et al. Am. J. hum. Genet. 1969, 21, 499. 3. Grace, E., Drennan, J., Colver, D., Gordon, R. R. J. med. Genet.
1. 2.
4. 5.
1971, 8, 351. Laurent, C., Noel, B., David, M. Annls Genet. 1971, 14, 33. Wilson, M. G., Melnyk, J., Towner, J. W. J. med. Genet. 1969, 6, 322.
Chazan, B. I., Rees, S. B., Balodimos, 1969, 209, 2026. 7. Seedat, Y. K. Lancet, 1968, ii, 1166. 6.
M. C.
J. Am. med. Ass.
"
Old Mill House,
Selsey, Sussex.
HENRY BRINTON.
TREATMENT AFTER EXPOSURE TO COLD
SiR,—The letters of Dr. Hillman and Dr. Leathart (Dec. 4, p. 1257) both make the point that the diagnosis of death from exposure made at the site of the tragedy is not satisfactory. Even at temperatures of 18 °Call the normal measures of life may be absent-e.g., peripheral pulse, respiration, pupil size and reaction, and corneal reflex. If helicopters are being used it would seem logical to fly all victims of hypothermia to a base hospital for attempted resuscitation. In Edinburgh a method of actively rewarming hypothermic patients by heated gases is being investigated. The method utilises the heat produced by the interaction of carbon dioxide and soda lime, and the oxygen breathed is heated by passage through the soda lime. The results so far are very encouraging: there is no after-drop of core temperature and the cardiac function is the first to improve. This method has been designed to be a portable method of central rewarming as a first-aid measure-e.g., on the mountain 3-but more efficient methods are available for use in hospital 4,5 using oxygen/helium mixtures, which have a high coefficient of heat transfer. Over a certain temperature range movement of the patient may cause death,6 and it may be necessary to measure the core temperature before deciding which patients should be flown at once to base hospital and which should be resuscitated on the spot. To do this a thermometer which measures core temperature from the intact skin surfacewould be ideal, but a portable thermister œsophageal or rectal probe thermometer would be adequate Department of Anæsthetics, The Royal Infirmary, 1. 2. 3.
E. LL. LLOYD. Edinburgh EH3 9YW. Laufman, H. J. Am. med. Ass. 1951, 147, 1201. Lloyd, E. L. Unpublished. Lloyd, E. L., Concliffe, N. A., Orgel, H., Walker, P. N. Unpub-
4. 5. 6. 7.
Henderson, M. A., Pettigrew, R. T. Lancet, 1971, i, 1275. Pettigrew, R. T., Lloyd, E. L. Unpublished. Freman, J., Pugh, L. G. C. E. Int. Anesthesiol. Clin. 1969, 7, 997. Fox, R. H., Solman, A. J. J. Physiol. 1970, 212, 8.
lished.
RETINOBLASTOMA AND D-CHROMOSOME DELETIONS SIR,-Your editorial (Nov. 6, p. 1016) prompts us to give more ample evidence of the hypothesis that a locus on the long arm of a D chromosome is concerned in the development of retinoblastoma. A combination of techniques identifies the deleted part in our patient most probably as the broader of the two bands on the distal portion of the long arm of chromosome 13. The patient was admitted for an internal strabismus due to bilateral retinoblastoma. There was no mental retardation, and the only congenital abnormalities were bilateral clinodactyly and cleft uvula. The father had a bilateral cleft lip and palate. in all mitoses 01 pnytonaemaggmunmstimulated lymphocytes and directly processed bone-marrow cells a deletion of the long arm of a D chromosome was present. This was identified by auto-
radiography, quinacrine fluorescence, and analysis of the D.N.A. d-r Giemsa banding pattern1 as chromosome 13. As can be seen in the figure, the missing part is the broadest of the three bands normally present on that arm. The chromosomes of the parents were normal. According to the literature, the deletion of the long arm of a D chromosome gives a distinct clinical picture, depending on the pair involvedof Banding pattern multiple congenital malformations in the normal (A) and the 13q- syndrome 2-4 and a lack of deleted (B) chromomajor abnormalities in 14q-.4 Only some 13. two retinoblastoma patients have been described in whom the deletion could be assigned by autoradiography to one of the three pairs of chromosomes in the D group. One patient3 with a typical 13q- syndrome had a 13r complement. The other patient had no severe congenital malformations and displayed a 14q- karyotype.5 Our patient resembles the latter in having no clinical features which might suggest a 13q- syndrome. Nevertheless, the deletion involved the middle portion of the long arm of a chromosome 13. E. ORYE Pædiatric Clinic, M. J. DELBEKE State University of Ghent, B. VANDENABEELE. Belgium.
DIALYSIS-INDUCED HYPERGLYCÆMIA
SIR,-Dr. David and his colleagues (Nov. 13, p. 1092) that hypoglycaemia may occur in patients receiving large doses of dextrose in the dialysate. It is interesting to state
have also had hyperglycaemia when in used these quantities for peritoneal dialysis glucose and heemodialysis. 6,7 Large amounts of dextrose in the dialysate have led to potassium depletion, which may cause impaired glucose tolerance in normal (euglycsemic) and diabetic patients. While frequent injections of small amounts of regular insulin have corrected the hyperglycamia in diabetic patients,supplemental potassium was
note
that
patients
was
Schnedl, W. Nature New Biol. 1971, 233, 94. Allderdice, P. W., Davis, J. G., Klinger, H. P., et al. Am. J. hum. Genet. 1969, 21, 499. 3. Grace, E., Drennan, J., Colver, D., Gordon, R. R. J. med. Genet.
1. 2.
4. 5.
1971, 8, 351. Laurent, C., Noel, B., David, M. Annls Genet. 1971, 14, 33. Wilson, M. G., Melnyk, J., Towner, J. W. J. med. Genet. 1969, 6, 322.
Chazan, B. I., Rees, S. B., Balodimos, 1969, 209, 2026. 7. Seedat, Y. K. Lancet, 1968, ii, 1166. 6.
M. C.
J. Am. med. Ass.