551 Since both the mechanisms postulated (i.e., that there is either an X-linked sex-limited H-Y gene with a non-productive allele, or a Y-linked H-Y gene repressable by a sex-reversing X-linked gene) show the same pattern of inheritance (X-linked or autosomal dominant, but sex-limited), confirmation of either must await the characterisation of the X-linked gene’s product, or the more scrupulous investigation of XX males, be they mice or men. Churchill College,
Cambridge CB3 0DS
Two similar translocations have been reported,’6 one with thirteen spontaneous abortions,’ and one in a newborn female with a ventricular septal defect, muscular hypertonia, and general oedema. I thank Dr N. Hofmann and Dr H. Jacobs for referring the patient and for the results of the spermatograms, Prof. 1. H. Pawlowitzki for the fetal karyogram, and Prof. E. Passarge for reading the manuscript. This investigation was supported in part by grants from the Deutsche
Forschungsgemeinschaft. CHARLES M. P. CLAOUÉ
FUSION OF HOMOLOGOUS CHROMOSOMES (15q15q) AS CAUSE OF RECURRENT ABORTION
S)R,—About 50% of spontaneously aborted human fetuses have an abnormal karyotype. 1A few are the result of parental chromosome translocation, and prenatal diagnosis is available in such cases. There are, however, situations when a balanced fetal karyotype cannot be expected (i.e., when homologous chromosomes are involved in a robertsonian translocation). I should like to report a translocation between two chro-
Institut für
Humangenetik,
Universitätsklinikum Essen, D-4300 Essen 1, West Germany
MARGRET BARTSCH-SANDHOFF
HERPES ZOSTER WITH BLADDER INVOLVEMENT
SIR,-In response to the article on herpes zoster with dysfunction of bladder and anus by Jellinek and Tulloch,’ we wish to report a similar experience in a patient with pre-existing vesical neuropathy. The patient, a 31-year-old blind diabetic with end-stage renal failure, received a maternal renal allograft in October, 1976. Preoperatively the patient had features compatible with autonomic neuropathy which included postural hypotension, absent catecholamine-induced symptoms relating to hypoglycsemia, and a residual urine volume of 450 ml and impaired bladder contraction on micturating cystogram. With some evidence that these features can improve after renal transplantation in diabetics,3 we proceeded with surgery. After 4 weeks, while receiving azathioprine 250 mg and prednisone 50 mg daily as immunosuppressive therapy, the patient was treated with 10 g of methylprednisolone over 16 days for an acute rejection episode which was confirmed histologi-
cally. Fig.
I-Centric fusion of two chromosomes 15.
Fig. 2-NOR-staining of the 15/15 translocation.
15 by centric fusion which resulted in eight spontaneous abortions. A 34-year-old female and a 40-year-old male were referred for cytogenetic evaluation because of eight miscarriages of undetermined xtiology. Chromosomal analysis of cultured lymphocytes of the husband, analysed by Giemsa trypsin banding,! revealed a centric fusion of both chromosome 15 in all 30 metaphases studied (fig. 1). Centric fusion was supported by results of C-banding and by silver-staining of the nucleolus organising region (NOR staining,4 fig. 2). In 20 metaphases with the 15/15 translocation only NOR-negative regions could be found. The karyotype of the wife was normal 46,XX. Semen analysis of the husband showed abnormal sperm morphology with oligospermia and teratozoospermia. I suggest that the translocation observed here will invariably lead to a chromosomal unbalanced fetus, either monosomy 15 or trisomy 15, both of which are lethal.’2Despite this prediction fetal material from the 9th abortion revealed a normal 46,XX karyotype. The chromosomes derived from cultured abortus material failed to reveal any paternal fluorescent markers. Thus it was not possible to distinguish between nonpaternity or decidual origin to explain the unexpected normal mosomes
karyotype. Boué, J., Boué, A., Lazar, Ph. Teratology, 1976, 12, 11. Kajii, T., Ohama, K., Niikawa, N., Ferrier, A., Avirachan, S. Am. J. hum. Genet. 1973, 25, 539. 3 Seabright, M. Lancet, 1971, ii, 971. 4 Bloom, S E., Goodpasture, C. Hum. Genet. 1976, 34, 199.
1 2
On the 10th day of treatment clinical features of herpes zosin the distribution of the lower right lumbar segments developed. Within 2 days the patient had a flaccid bladder paralysis associated with sensory impairment in the lumbar and sacral segments as well as lower-motor-neurone weakness in the right lower limb. The acute onset of urinary retention suggests that herpes zoster was the prime insult, but the underlying diabetic neuropathy may have contributed. After 6 weeks the patient shows only very slight signs of recovering bladder function. T. I. GOTTHEINER Renal Unit, N. POKROY Groote Schuur Hospital, Africa M. C. GREGORY South Cape, Observatory, ter
NEUROPATHY AFTER INFLUENZA VACCINATION
SIR,-Dr Furlow (Jan. 29, p. 253) encountered two patients with poorly defined sensory symptoms in the upper extremities after administration of influenza vaccine. There was no demonstrable organic aetiology for these self-limited episodes, and Dr Furlow postulated an unusual neuropathy. I would like to propose an alternative explanation based on a recent experience of my own. A 47-year-old female bank clerk developed bilateral hand and forearm pain, with tingling of the fingers, 3 weeks after administration of Victoria A and "swine flu" vaccine. She feared the onset of Guillain-Barre syndrome and sought medical assistance. The deep-seated and poorly localised pain was "like a toothache" and extended proximally to the elbows. The tingling and numbness spared the little finger and the ulnar side of the ring finger. The symptoms were worse at night, par5. Lucas, M. Ann. Hum. Genet. 1969, 32, 347. 6. Yoshida, M C., Nomoto, N., Sasaki, M. Humangenetik, 1972, 15, 66. 1. Jellinek, E. H., Selby Tulloch, W. Lancet, 1976, u, 1219. 2. Kjellstrand, C. M., Shideman, J. R., Simmons, R. L., Buselmeier, T. Hartitzsch, B., Goetz, E. C., Najarian, J. C. Kidney Int. 1974, 6, 1, p. 15. 3. Kjellstrand, C. M. Personal communication.
J., von suppl.
552
ticularly after days when she counted unusually large numbers of dollar bills. She spontaneously shook her hands and hung them over the side of the bed for relief. She experienced some Exdifficulty squeezing the tube of toothpaste in the amination did not reveal signs of arthritis, vascular disease, or neurological deficit. She had a positive Tinel’s sign, and 60 s of forced flexion of the wrists duplicated the pain and paraesthesias. Splinting of her wrists provided relief of symptoms. The diagnosis of carpal-tunnel syndrome is easily overlooked, particularly in the early stages when objective muscle and nerve impairment are absent. The pain may radiate as far 1 as the shoulder, but usually remains within the forearm.’ be nerve-conduction studies useful Although (sensory may latency must be specifically looked for) the diagnosis is largely a clinical one, and the sensory latency may be normal in otherwise typical cases.2 Injection of a corticosteroid into the carpal tunnel may be useful diagnostically. Prevention of excessive wrist movement during both day and night is the first step in conservative treatment. Although carpal-tunnel syndrome is known to accompany viral infection,3 its frequency after immunisation is unknown. I am sure Dr Furlow considered this possibility. This syndrome is more common than is usually appreciated and should be familiar to all physicians because it is easy to treat and is frequently a presentation of associated systemic disease.
Commentary from Westminster
morning.
Division of Rheumatology, University of Pennsylvania School
Philadelphia, Pennsylvania 19104,
of Medicine, U.S.A.
PETER HASSELBACHER
ILEOSTOMY ASSOCIATION APPEAL
SIR, The Ileostomy Association of Great Britain and Ireland was founded 21 years ago. Its coming of age is being marked by an appeal to its members in order to raise C21 000. The Association, the first of its kind in this country, has been entirely self-supporting on the subscriptions of members and has received neither subventions from Government nor support from grant-giving bodies. Though voluntary service will continue to provide the basis of all the Association’s activities, the ever-increasing work of the general secretary can no longer be conducted from private accommodation without a permanent fully salaried official. This is the reason for the appeal-so that the generation which founded the Association may pass to ensuing generations an organisation which will ensure continuation of the invaluable work which has brought care, comfort, and relief to so many individuals with a stoma, not only ileostomy but of any kind. We wish to draw the attention of our profession to this appeal because it is not only patients who have benefited from the Association’s activities; doctors, nurses and medical social workers, inside and outside hospitals, have received support from its members in the care of their patients and have been assisted by the development of stoma therapy, stoma clinics, and the new materials and appliances which has resulted from the interests and activities of the Association. Donations may be sent to the Honorary Treasurer, Mr R. Thorp, at 32 Buckingham Avenue, Whetsone, London N20. BRYAN N. N. BROOKE President
T. D. KELLOCK Medical Adviser
IAN P. TODD Surgical Adviser
J. LENNARD-JONES The
Ileostomy
Medical Research Adviser, Association of Great Britain and Ireland
Phalen, G. S. J. Bone Jt Surg. 1966, 48A, 211. Phalen, G. S. J. Am. med. Ass. 1970, 212, 735. 3. Smith, J. W., Sanford, J. P. Ann. intern. Med. 1967, 67, 651.
1. 2.
FROM A CORRESPONDENT
St Mark’s and Harefield THE fortunes of Britain’s specialist hospitals and units are continuing to cause concern and to present area health authorities with problems of national and international consequence. London hospitals are finding themselves particularly hard pressed because of the Government’s policy of reallocating resources away from the capital to the poorer regions. But more is at stake than the future of local services in certain specialties. For these centres are often the ones which have made Britain a world leader in Medicine. Two separate instances illustrate the problem. The first concerns the fight to protect from cutbacks or closure St Mark’s Hospital and its work on the treatment of diseases of the bowel and rectum. On the hospital’s behalf, a sharply written document, St Mark’s Hospital: the Future?, published last week, declares that a new approach to the financing of specialist hospitals will be essential to prevent a complete halt in the medical world’s fight against disease. "Unless hospitals such as St Mark’s are treated as national assets, they will rapidly cease even to be assets to the area in which they are located. A radical rethink about the finance of British specialist hospitals will be necessary to protect their future contributions to British and world medicine". To those who favour a centralist health policy, such as Mr George Cunningham, the Labour M.P. for Islington, the St Mark’s constituency, the solution is simple. The Government should take over direct funding of St Mark’s. But this would not have universal support. Nor would everyone approve of such action in the second example of a centre in financial difficulty. In the cardiothoracic unit at Harefield Hospital, in Hillingdon on the outskirts of London, the work of Mr Magdy Yacoub has established an international reputation. The unit is one of the busiest in the country, but it is now seriously underfunded and without further capital and revenue it may not be able to continue operating at present levels. So, to strengthen the case it is putting to the North West Thames Regional Health Authority, the area health authority has carried out a detailed cost analysis of the unit. What has hitherto been no more than a suspicion, has been confirmed: the unit’s catch= ment areas are just as much national as regional. Because of the unit’s reputation and success, a large proportion of patients are referred to it from other areas for coronary artery grafts or heart-valve replacements. In fact in 1975 only 12% of the unit’s inpatients came from within the Hillingdon area. Just over 48% came from other areas within the North West Thames region. But almost 40% came from outside the region altogether (29% from the home counties, over 7% from other parts of Britain, and almost 3% from abroad). Though the unit is doing other regions’ work, the A.H.A. does not believe that the money it gets from the region recognises this fact as much as it should. Rather than supporting the idea of direct funding by the Department of Health and Social Security, the A.H.A. believes that the region could find the extra money by rationalising its services and by closing cardiac centres in its area whose work has less im-