XXX 21-TRISOMY

XXX 21-TRISOMY

437 administration of oxygen appears to certainly to women correct many with clinical foetal distress foetal tachycardias and is beneficial rathe...

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437 administration of oxygen appears

to

certainly

to women correct many

with clinical foetal distress foetal tachycardias and is

beneficial rather than harmful. One can only congratulate Dr. Saling on his lack of intrauterine infection as a result of these procedures; and those of us who frown upon digital vaginal examination in the course of labour might be able to learn from his technique how we can avoid intrauterine infections.

Finally, I am unable to understand how there has been an improvement in the Berlin perinatal-mortality rate to the tune of some 15% when there has been no change either in cxsarean-section rate or in the instrumentaldelivery rate in Dr. Saling’s institution. Mr. Huntingford also did not tell us how this improvement was achieved with the use of amnioscopy and determination of acid-base balance. Medical Centre, 1428, Ouellette Avenue,

Windsor, Ontario, Canada.

ANDREW A. FREIER.

SOCIOLOGY AND THE HEALTH SERVICE

SIR,-Your leader of Feb. 1, entitled Better Use of Nurses’ time, draws attention to some research by Professor Revans and his colleagues. But an earlier finding by the same team1 seems to have passed unnoticed. In acute general hospitals, they found, increase of hospital size was associated with greater difficulty in retaining nurses, longer stay by patients, and deterioration of the atmosphere of the wards. This is in line with a recent comment on hospital food: " The larger the hospital the lower the efficiency of administration and the quality of food as served." 2 Under the Hospital Plan, the future district general hospitals be large, normally having 600-800 beds.3 The reason given for choosing this size is the " trend towards greater interdependence of the various branches of medicine and also an increasing realisation of the need to bring together a wide range of the facilities required for diagnosis and treatment ". No research into the possible effects of longer travel, such as failure to attend clinics, is mentioned. The studies I have quoted do not demonstrate that the planned size of the district general hospitals is necessarily wrong; for, even if these adverse effects of size are confirmed, the solution may lie in learning to cope with large institutions. What seems clear, however, is that in choosing large hospitals Even some important considerations have been neglected. when we review the way in which a new hospital is working we are reluctant to employ medical sociologists, as would normally be done in the United States. The team which has just produced the valuable reporton the new Guy’s building saw the need to assess patients’ reactions, but did not use a sociologist for the purpose. (I am glad to learn that in future assessment teams of the King’s Fund a sociologist is likely to be included.) If we really care about the quality of the human relationships in hospitals, both between different members of staff and between staff and patients, then we shall have to act differently from the Cohen Committee5 which failed to use its power to set up research into communication in hospitals. In the early stages of a massive programme of hospital rebuilding it is urgent that we use sociological skills. The kind of thinking that assumes that putting people into the same building necessarily means better contact and cooperation is far too prevalent. The Ministry of Health are to

1. See Brotherston, J. H. F. Med. Care, 1963. 1, p. 226. 2. Platt, B. S., Eddy, T. P., Pellett, P. L. Food in Hospitals. London, 1963. See Lancet, 1963, ii, 1152. 3. Hospital plan for England and Wales; para. 20. Cmnd. 1604. H.M. Stationery Office, 1962. 4. Evaluation of New Guy’s House. King Edward’s Hospital Fund for London. London, 1963. 5. Communication between Doctors, Nurses, and Patients. H.M. Stationery Office, 1963.

regional hospital boards need departments of sociology. Besides studies in hospitals, the Ministry department should be concerned with studies in public health and general practice. And university departments of social medicine scarcely merit their title if they do not include a strong social-science team.

and the medical

Woodford Green,

PETER DRAPER.

Essex.

LENGTH OF STAY IN HOSPITAL

SIR,-Dr. Avery Jones’s interesting article of Feb. 8 rightly points out that there is much need for improvement, particularly in the time of discharge of patients after surgical procedures. However, I doubt if the figures quoted from the Hospital In-patient Enquiry and from Forsyth and Logan’s review can now be regarded as a satisfactory yardstick. Mr. R. Campbell collected the figures for one surgical unit in Aberdeen over the years 1960-62 and found that our mean duration of stay for patients with varicose veins, hernia, and haemorrhoids was 5-4, 5-3, and 6-9 days respectively. During this period about half the total patients with the first two conditions were being treated as outpatients1 and these means are therefore derived from the residual cases who for social, medical, or geographical reasons had to be admitted to the

hospital. Figures

for average duration of stay can be misleading if the distribution is not known. Thus of our 47 patients with hxmorrhoids, 25 occupied 75 bed-days with an average stay of three days, but the other 22 occupied 178 bed-days with an average duration of stay of eight days. It is to this second group of long stay " patients, who remained in hospital for a variety of medical and other causes that our attention should be directed if we are to make the improvements which Dr. Avery Jones so rightly regards as desirable. Department of Surgery, "

Monash University, Prahran, S.1, Victoria, Australia.

H. A. F. DUDLEY.

XXX 21-TRISOMY

SIR,-We wish to report a white female infant with trisomy-X and trisomy-21. She was born after a 42-week uncomplicated pregnancy to a 47-year-old mother and a 45-year-old father. The mother had one miscarriage twenty years ago; and she has one living ,17-year-old daughter and identical 14-year-old male twins. combined

All known members of the patient’s family for the previous two generations are alive and in good health, except the maternal grandmother, who died of breast cancer. The birthweight was 5 lb. 5 oz. At the age of 2 weeks the head circumference was 34-6 cm., the anterior fontanelle 3B4 cm., the posterior fontanelle 1.5 x 1.5 cm., the chest diameter 28-5 cm., and the body length 50 cm. There was a typical mongoloid facies with hypertelorism, epicanthal folds, mild strabismus, and flattened nasal bridge. A high arched palate, short neck, and hypotonia were also present. The mouth was usually held open and there was considerable drooling. Inspection of the palmar creases showed no simian line or distal flexion crease on the fifth digit. Fingerprint analysis showed eight ulnar loops, one whorl, and one arch. There were no distal triradii on the palms. An arch tibial was present on both hallucal areas. 14% of her buccal cells contained two sex-chromatin bodies, and 60% contained one sex-chromatin body. Karyotype analysis showed a modal chromosome-count of 48, with one extra group C (6-12 and XX) and one extra group G (21-22) chromosomes. Of 32 metaphase plates counted, 29 contained 48 chromosomes, 2 contained 47 chromosomes, and 1 contained 46 chromosomes. A D.N.A.-replication study, using tritiated thymidine as a marker, revealed two late replicating X chromosomes and three somewhat late replicating chromosomes of group G. These studies will be reported in detail. 1.

Stephens,

F. O.,

Dudley,

H. A. F.

Lancet, 1961, i, 1042.

438

Two

cases of double trisomy involving the X chromohave been reported, one involving trisomy-X and trisomy-21and one involving trisomy-X and trisomy18.2 In these cases, as well as our own, the phenotypic expression of the patients was that of the extra autosome involved. This is in accordance with the mild and variable expression seen in cases of simple trisomv-X. Departments of Laboratory Medicine, JORGE J. YUNIS Pediatrics, and Neurology, Human Genetics Study Group, University of ERNEST B. HOOK Minnesota Hospitals, Minneapolis, MILTON ALTER. Minnesota. somes

SEX-CHROMOSOME ABNORMALITIES IN NEWBORN BABIES

SIR,-Having read the excellent survey by Dr. Maclean and his colleagues (Feb. 8), I would like to recall that Wiesli3 carried out similar studies in Basle, using the fcetal portions of the placentt for nuclear sexing. Among

1563 newborn males

only

1

sex-chromatin-positive anencephalic. None of

found. This newborn was an 1466 newborn females showed any abnormality of nuclear sexi.e., Wiesli’s findings were nearly similar to the Indian survey.4 The discrepancy could be related to the recent observation56 of a low incidence of sex-chromatin in newborn babies, probably due to the extremely high oestrogen levels during the first one or two days of a baby’s life.6 This fact was not known at the time of these surveys. Department of Anatomy, M. NABIL RASHAD. Queen’s University, Belfast 7. case was

HYPOFIBRINOGENÆMIA " IN PREGNANCY SiR,-In 1960 two of us described a fatal hxmorrhagic disorder in a -35-year-old pregnant woman in whom abnormal bleeding developed during labour.The patient’s blood was completely incoagulable, and superficially she seemed to have "afibrinogenxmia"; but, on the addition

Epithelial squames in maternal pulmonary vessels. Alcian-phloxin / 400 (minus red filter).

of this woman shows that in at least some cases of human amniotic embolus the clotting defect is due to an alteration in the reactivity of fibrinogen to thrombin, rather than to a true afibrinogenoemia. The precise mechanism by which this alteration is brought about is unknown, but any explanation must take into account the finding of a similar clotting defect in the foetus. S. J. BAKER Christian Medical College, E. JACOB. Vellore, India. Department of Pathology, Royal Women’s Hospital, Melbourne, Australia.

H. D. ATYWOOD.

"

of protamine sulphate in vitro, a fibrin clot formed, and the plasma-fibrinogen was found to be 210 mg. per 100 ml. All steps in the coagulation process up to and including thrombin formation were normal, as shown by a normal thrombin-generation test. No fibrinolysin could be demonstrated. Something seemed to prevent the conversion of fibrinogen to fibrin under the influence of thrombin. This clotting defect closely resembles that found in experimentally induced amniotic emboli in dogs.8 We decided therefore to re-examine the postmortem specimens for evidence of amniotic emboli. A review of the lung sections stained with hsmatoxylin-eosin did in fact show findings suggestive of amniotic emboli. Restaining of the sections by the alcianphloxin methodrevealed epithelial squames but very little mucus in the three available pieces of lung tissue (see figure). Amniotic-fluid emboli have previously been recorded as causing a hxmorrhagic diathesis attributed to afibrinogenaemia.1O " Sharp et al. 12 seem to have been the first to suggest that the so-called "defibrination syndrome" in pregnancy could be a result of a "qualitative alteration in the reactivity of fibrinogen to thrombin, rather than a simple quantitative depletion of fibrinogen." The clear demonstration of amniotic emboli in the 1. 2. 3. 4. 5. 6. 7. 8. 9. 10.

lung

Day, R. W., Wright, S. W., Koons, A., Quigley, M. Lancet, 1963, ii, 154. Uchida, I. A. Lewis, A. J., Bowman, J. M., Wang, H. C. J. Pediat. 1962, 60, 498. Wiesli, B. Acta Anat. 1962, 51, 377. Naik, S. H., Shah, P. N. Science 1962, 136, 1116. Smith, D. W., Marden, P. M., McDonald, M. J., Speckhard, M. Pediatrics, 1962, 30, 707. Taylor, A. I Lancet 1963, i, 912. Baker, S. J, Jacob, E. J. clin. Path. 1960, 13, 214. Attwood, H. D, Downing, S. E. Unpublished. Attwood, H. D. J. Path. Bact. 1958, 76, 211. Reid, D. E., Weiner, A. E., Roby, C. C. Amer. J.Obstet. Gynec. 1953, 66, 465.

11. Reid, D.

A.

E. J. Amer. med. Ass 1956, 161,

Sharp, A. A., Howie, B., Biggs, R., Methuen, D. T. Lancet, 1958, ii, 1309.

SIR,-In their analysis of capillary fragility Dr. FarrerBrown and his colleagues (Dec. 21) refer to its possible association with iron deficiency: of the 17 patients in whom they estimated the serum-iron concentration, 10 showed levels below 80 tig. per 100 ml. when the

tourniquet

test was

positive.

Vascular fragility is the clinical expression of loss of endothelial integrity, of which the causes must be legion. One of these may be insufficient enzymic activity, upon which the metabolism of individual cells depends-in this context reduction of endothelial cell efficiency permitting undue rhexis, Iron-porphyrin chelates are required, not only for oxygen transport but for the maintenance of cell redox systems: as Beutler et al.1imply, a sufficiency of intracellular-iron-dependent enzymes such as cytochromes and catalases may be crucial for all mammalian cell biology. To imply that a systemic iron deficit might cause deterioration of cell function may be sophistry: yet Cartwright and Wintrobe2 have suggested that this may explain delayed wound healing in the presence of infection, and it has long been known that the protean manifestations of iron-deficiency anemia may resolve before the hsemoglobin level rises. Two states in which vascular fragility may exacerbate symptoms merit particular comment: the menorrhagia-induced iron-deficiency anxmia which intensifies the menorrhagia, yet when iron is given both conditions respond; and the excessive post-extraction dental bleeding found in women with an iron deficit which readily responds to parenteral iron. Dr. Farrer-Brown and his colleagues acknowledge the difficulties inherent in defining the causes of undue bleeding. When a deficiency state is suspected, it is simple to give ascorbic acid. and a response is easily, if uncritically, judged by the tourniquet test: when the haemoglobin is demonstrably low, iron deficienty can readily be assumed and a similar therapeutic test appliedas absorption may delay a response, it is reasonable to gire intravenous iron-dextran. a

E., Roby, C.C., Weiner,

1244.

12.

BRUISING AND FRAGILE CAPILLARIES

The possibility of a systemic iron deficit coinciding with normal level of hxmoglobin was first commented upon

Beutler, E., Fairbanks, V. F., Fahey, J. L. Clinical Disorders of Iron Metabolism; p. 28. New York, 1963. 2. Cartwright, G. E., Wintrobe, M. M. Advanc. intern. Med. 1952, 5, 165 1.