XO MOSAICISM

XO MOSAICISM

319 absorption, (b) slow metabolism, and (c) a large percentage of these hydrocarbons being eliminated by the lungs. (7) I would reply to point (6) b...

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319

absorption, (b) slow metabolism, and (c) a large percentage of these hydrocarbons being eliminated by the lungs. (7) I would reply to point (6) by referring to the communique sent me by my colleague. (8) I fail to see how the risk of aspiration from vomiting can be associated with " the low surface tension of the liquid under discussion, which makes a small volume spread rapidly over a

large area ".

extract from the letter is: poisoning in Britain must be very rare-in 1400 postmortems mostly coroners’, I have not had one. However, during the seven years spent in place X, as pathologist, death due to poisoning following ingestion of kerosene was one of the commonest of fatal accidents. Young children, given water in a tin, were not uncommonly given by mistake one ounce or two of kerosene! ..." It was common practice in this area, it seems, to keep both drinking-water and kerosene in old biscuit tinshence the mistake. He goes on to say: "... and these children were usually brought in their mother’s arms to the back door of the hospital, and their appearance was quite characteristic-froth at the mouth, and an odd combination of flush and cyanosis. They were stuporose, and, of course, stank of kerosene. Just within the entrance of the casualty hall there was a stand of soda bic. and a fine stomach tube. It was the duty of the first dresser, or doctor, who saw the child to wash its stomach out. In spite of this many of them died in a few hours. Unfortunately due to local religious belief, postmortems were not possible, but child deaths in this particular place, caused by kerosene poisoning, must have amounted to twenty-five per annum ..."-this being largely due to parental neglect since it was quite customary to keep poisonous substances in

The

appropriate

" Kerosene

tins and beer bottles. Medical Department, Petrochemicals Ltd.,

Carrington Works, Urmston, Lancashire.

B. GEORGE.

near

CHROMOSOMAL CONSTITUTION IN A CASE OF KLINEFELTER’S SYNDROME SIR,-In a case of Klinefelter’s syndrome exhibiting the Barr chromatin body as in the female, Jacobs and Strongfound that the chromosome number was 47, and Ford et awl. related the case of a patient showing both mongolism and Klinefelter’s syndrome with two supernumerary chromosomes, one being autosomic and the other sexual. In one case of Klinefelter syndrome treated with high doses of human chorionic gonadotrophin (H.C.G.) and published recently,3 the chromosomes of the patient were studied on bone-marrow squashes after treating the patient with des-

Fig. 2-Chromosomes arranged in pairs, showing the

XXY

anomaly.

The chromosome number was 47 and the patient was considered to represent a XXY pattern, although there is a possibility that this patient might be trisomic for one of the small acrocentric chromosomes and have a XX constitution (figs. 1 and 2). This finding seems to corroborate the unusual response seen in the mammary tissue after H.c.G., fitting in with our initial idea that the response of the tissue might depend on a special constitution of the patient. Department of Endocrinology, First Medical Clinic, Hospital das Clinicas, São Paulo University, Brazil. Department of Clinical Medicine, Medical School of Ribeirão Preto,

NELSON LEON. IRIS FERRARI CASSIO BOTTURA.

Brazil.

SEX-CHROMATIN BODY SIR,-Discussion in your leader of July 23 of the nature

and origin of the sex-chromatin body surprisingly omits consideration of the simple and elegant view advanced by Steward He pointed out that the number of sexchromatin bodies is usually one less than the number of X chromosomes (an observation since confirmed in all new reported karyotypes) and since only one X chromosome can be required for intermitotic metabolic activity, the sex-chromatin bodies may well derive from material from those X chromosomes not so engaged and thus free to stain. The advantages of such a view include not only its consistency with the reported facts, but also the small number of additional assumptions needed both in respect of the view itself and also in respect of explanations of the origin of reported karvotypes. Department of Public Health and Social Medicine, Queen’s College,

ALWYN SMITH.

Dundee.

acetylmethylcolchicine (’ Demecolcin ’) intravenously.4 1. Jacobs, P. A., Strong, J. A. Nature, Lond. 1959, 183, 302. 2. Ford, C. E., Jones, K. W., Miller, O. J., Mittwoch, U., Ridler, M., Penrose, L. S., Shapiro, A. Lancet, 1959, i, 709. 3. Leon, N., Wajchenberg, B. L., Montenegro, M. R., A. B. de Ulhôa Cintra. J. clin. Endocrin. 1959, 19, 1667. 4. Bottura, C., Ferrari, I. Acta physiol. Lat. Americ. (in the press).

TRUE HERMAPHRODITISM WITH XY/XO MOSAICISM

SIR,-Since new methods for the counting and identification of human chromosomes have become widely used, a number of sexual abnormalities have been investigated. Among these are two instances of true hermaphrodites,23 in both of whom an XX sex-chromosome constitution was demonstrated without any evidence of mosaicism. There have also been reported several cases of sex chromosome mosaicism, of types XXY/XX,4 XXjXO,5 and XXX/XO." We wish to report here a case of true hermaphroditism with mosaicism showing sex-chromosome constitutions of XY and XO in cells cultured from bone-marrow. A three-month-old infant

vagina, and hypospadias.

fallopian tubes, 1. 2. 3. 4.

Fig. I-Mitotic metaphase in

a

bone-marrow cell.

5. 6.

and

two

noted

have revealed

phallus, a uterus, Laparotomy gonads in the position of ovaries. was

to

a

Lancet, 1960, i, 825. Hungerford, D. A., Donnelly, A. J., Nowell, P. C., Beck, S. Amer. J. hum. Genet. 1959, 11, 3. Harnden, D. G., Armstrong, C. M. Brit. med. J. 1959, i, 1287. Ford, C. E., Polani, P. E., Briggs, J. H., Bishop, P. M. F. Nature, Land. 1959, 183, 1030. Ford, C. E. Amer. J. hum. Genet. 1960, 12, 104. Jacobs, P., et al. Lancet, 1960, i, 1213.

320

Histological examination of one

of these gonads revealed both ovarian and testicular structures in an immature state. Chromosome examination of a bone-marrow culture revealed two types of cells. 60% of these have an XO sexchromosome constitution with 45 chromosomes, while 40% contain 46 chromosomes with an XY sex-chromosome constitution.

We feel that this case is of some importance for several It demonstrates the only major sex-chromosome mosaicism not previously reported. It is also the first case in which two types of sex-chromosome constitutions appear to have produced two types of tissue in the gonad, thereby resulting in hermaphroditism.

reasons.

This

case

will be

published

in detail elsewhere.

Departments of Medicine and Obstetrics and Gynecology, New York University Medical Center.

KURT HIRSCHHORN WAYNE H. DECKER HERBERT L. COOPER.

CONVERSION OF GENERAL WARDS INTO PRIVATE WARDS

SIR,-After reading Mr. Vaughan Hudson’s article I appreciate that the risk of infection may make this conversion necessary. But may I express a patient’s point of view on a psychological aspect of this question ? I am not a typical patient because I like reading books (not magazines), I do not like knitting, and I do not much like gossip or small talk. It might therefore be assumed by a doctor that I would prefer a room of my own. I was, however, in hospital a few months ago for a minor gynaecological operation and I was very impressed by the effect on the morale of the patients of being in a ward. There were 8 beds in my ward, 3 of the patients had hysterectomies and I was the least seriously ill. I suppose we were all rather anxious and nervous, but I am ashamed to say I was the only one who, at one stage, broke down and cried. I was told, quite gently, by one of the other patients that I must not do that, I was letting them down, they all felt like crying sometimes, but they had to think of the others. This attitude is important. I am sure that if we had been alone in 8 separate rooms, we would all have spent a lot of our time being utterly miserable. Solitary confinement is a severe punishment, and in hospital particularly, would allow endless time for brooding and worrying. I can imagine cells of lonely misery, very different unfortunately from rooms of film stars in the London Clinic, filled with flowers and visitors all day long.

IANTHE CARSWELL. REDUCTION OF INTRACRANIAL PRESSURE WITH HYPERTONIC UREA SiR,ńIntravenous urea is often given to patients undergoing craniotomy when the intracranial pressure is raised, and when it is desirable to achieve access more easily by often appears, or shrinking a normal brain. Pulsation increases in extent when the brain is " tight ", after only a few ml. of urea have been given. Respiration is spontaneously maintained at a normal rate while the change occurs.

Because of this fact no more than 20 g. of urea were given in three cases recently operated on. In two, satisfactory reduction of raised tension was sustained, and in the third, when the anterior cerebral artery was to be clipped, the brain receded 2 cm. from the inner table with a dose of 16 g. of ureaa ventricular tap having first proved ineffective in lessening tension. I suggest that in some instances the recommended dose of urea (1-1-5 g. per kg.) is excessive. Would it not be worth injecting the drug after the bone flap is reflected, to ensure that the optimum dose is given, and eliminate the troublesome

oozing which occurs if the urea is given at the start of the operation ? In view of the irritant effect on veins, a smaller dose would, a priori, lessen the risk of thrombosis also.l These patients were operated on under the supervision of Mr. G. L. Alexander, Mr. D. G. Phillips, and Mr. A. Hulme.

Department of Neurological Surgery, Frenchay Hospital,

D. O. HANCOCK.

Bristol.

LOWERING THE INCIDENCE OF HEPATITIS AFTER BLOOD-TRANSFUSIONS SiR,ńThere is some disagreement regarding the value of liver-function tests in eliminating the transmission of

hepatitis by donors. We began using the transaminase (SGO-T) determination in borderline cases in January, 1957, and we do not use blood that has a reading above 45 units. We have found this procedure very helpful. It is known that the transaminase test may be positive for 21 days2 up to 65 days3 before other evidence of liver disease is present; and a transaminase level of 100 units or below may be associated with a negative thymol turbidity test in individuals

exposed to hepatitis. Our present policy

of

screening

donors is

as

follows:

(1) Microhxmatocrit is performed routinely to rule out lactescent and icteric serums as well as anaemia. (2) Transaminase is estimated routinely to rule out any form of liver disease. (3) The blood is discarded if the icterus index is above 6-0; or if the transaminase is 50 or more units. A repeat transaminase should be done if there is a question of alcoholism. It will return to normal in 15 days in uncomplicated cases. We have noted that the transami. " nase level may be elevated if a patient has been to a social party" and has had a few highballs. We have followed some of these cases. The transaminase will revert to normal in 10 to 15 days. However, if there is liver damage, the transaminase will remain elevated. We have had instances in which it would remain around 100 for the period that they were under our observation. These tests are referred to the patient’s physician for further follow-up. We believe these patients are destined to cirrhosis unless their habits are altered. The results of follows:

our

liver-function

tests on

donors

are as

9615 units of blood were taken from the beginning of 1954 1957, and we discarded 151 units (1-57%). We took 2556 donors since we began using the microhmmatocrft procedure to eliminate lactescent and icteric serums in screening our donors in January, 1957. 19 (0-75%) were discarded. This means that our discard percentage was reduced by half by this procedure. We performed the transaminase test on 500 consecutive donors. In 10 instances the transaminase level was 50 or above. All of these donors were well as far as could be determined. They were grouped as follows:

to

SGO-T

(20-45)

50

55

65

60

90

240

units No. of donors

4

1

1

2

11

All but 3 were called back, and the findings were similar, All but 1 had a normal thymol turbidity test. 25 donors had elevated thymols, but the transaminase was normal. Many of these abnormal thymols would be normal on repeat examination according to our past experience. This means that 2-2% of the donors could not be used. It may be that donors with 50 units of transaminase are safe, but this will require further consideration. The number of our transfusions is not great compared with larger medical centres, but we believe our cases are quite well controlled. We see many of our attending physicians almost daily, and we are sure they would tell us if they had a patient who had jaundice after a transfusion. We have also surveyed our physicians regarding this subject by mail for completeness. 1. 2. 3.

Stubbs, J , Pennybacker, J. Lancet, 1960, i, 1094. Conrad, R. G. New Engl. J. Med. 1957, 265, 603. Bockus, H. Hepatitis Frontiers (International Symposium); Boston and Toronto, 1956.

p. 505.