DETECTING BLADDER FULLNESS BY SUBJECTIVE PALPATION

936 revealed a diabetic response. High fasting blood-sugars had been noted previously. Common factors in this total of four cases are, besides manic-depressive illness and lithium therapy, sex (female), obesity, and age (over 30). Thirst, polyuria, and fatigue in a patient on lithium must not be dismissed as common-and,

therefore, acceptable-side-effects of the treatment. Dundee Liff Hospital, Dundee DD2 5NF

Royal

BRIAN B.

JOHNSTON

IDENTIFYING CARRIERS FOR X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA

SIR,-Heterozygotes for the X-linked gene of the Christ-Siemens-Touraine (C.S.T.) syndrome (also known under the misleading term anhidrotic or hypohidrotic ectodermal dysplasial) are generally reported as normal and the gene as recessive. In many instances, where the gene is uncritically accepted as completely recessive, women with a high probability of being heterozygotes are not even examined. This seems to reflect an interest restricted to the full-blown syndrome. In forty-two papers which clearly state that the women have been examined,$6 among 89 mothers of affected males and/or of carriers (63%), 8 among 19 daughters of affected fathers (42%), and 27 among 69 daughters of carriers (39%) had one or more signs of the C.S.T. syndrome, such as trichodysplasia (discrete), teeth defects (generally 1-5 missing teeth), hypohidrosis (very mild), and low sweat-pore counts in the fingertips. Saddle nose and protruding lips were also described as mild signs in some carriers.2.3 In a large kindred we have analysed (with 13 affected males and 27 "affected" females), the above frequencies were 9/13 (69%), 10/18 (55%), and 17/61 (28%), respectively. Since the first two figures in each set of data represent the manifestation-rates among carriers and the third figure represents the manifestation-rate in samples where only 50% are expected to be carriers, the first two values and twice the third may be accepted as estimates of the penetrance of the gene (42-78%). Since the traits will be missed if examination is not thorough and may not even be mentioned when a history is sought from carriers (who may not relate them to the severe syndrome of their sons ’or brothers), the best estimate of the penetrance of C.S.T. gene is probably near the upper limit of the above range; detailed clinical examination of putative carriers may disclose the trait in 70-80%. We suggest that C.S.T. syndrome has two forms,-a major form (in males) and a minor one (in females). Some females, however, present with the major form.4.sThere are three possible explanations for these findings: homozygosity for the autosomal recessive gene of an indistinguishable syndrome, homozygosity for the X-linked gene, and heterozygote manifestation of the X-linked syndrome due to skewed X-chromosome inactivation. Each family must be carefully investigated before one of these possibilities is picked on. But the main point is that since females who are close relatives of C.S.T. patients, usually want to know if they are carriers, doctors should be aware that detailed examination of the hair, teeth, sweating capacity, and so on may disclose mild C.S.T. traits and permit a good chance of identifying carriers. This is part of

a

research

project

which received grants from

W.H.O. and C.N.Pq. Department of Genetics, Federal University of Parans 80 000 Curitiba, Paraná, Brazil 1. 2. 3. 4.

M. PINHEIRO N. FREIRE-MAIA

Freire-Maia, N. Acta genet. med. Gemell. 1977, 26, 121. Olinsky, A., Thomson, P. D. S. Afr. med. J., 1970, 44, 1234. Glass, L. C., Yost, D. H. J. Hered. 1939, 30, 477. Everett, F. G., Jump, E. B., Sutherland, W. F., Savara,

J, Am. dent. Ass. 1952, 44, 173. 5. Seagle, J. B. Acta pœdiat. scand. 1954, 59, 94.

B.

S., Suher, T.

DETECTING BLADDER FULLNESS BY PALPATION

SUBJECTIVE

SIR,-Without urinary symptoms undue bladder fullness unsuspected. Even quite large bladders may not be palpable in the ordinary way especially if they are atonic. Percussion often does not help unless the bladder is grossly distended, and perhaps not even then in the obese. I have found a useful physical sign for detecting the height of the fundus which is also of value in detecting residual urine. The doctor gently pushes one finger perpendicularly into the lower abdomen starting from above and going down in steps towards the pubis. If this causes a call to micturition at any may be

point, the fundus is probably distended to that level. The subjective response is usually negative when pressure is applied only a centimetre or so above a bladder which is palpable objectively. The examination requires a cooperative patient with relaxed muscles. The response has to be interpreted with caution in confused patients, in patients with neurogenic bladders or with irritable bladders whether from functional

or

infective causes,

BLADDER VOLUMES IN PATIENTS WITH NEGATIVE AND POSITIVE PALPATION SIGNS

and in patients with painful lower-abdominal conditions. The method might be invalid for anatomical reasons in childhood and pregnancy. The sign was evaluated in 50 consecutive patients examined by cystoscopy. There were 34 men and 16 women, aged 20-84 years. 11 were under 50; 12 were over 75 years. The patients had been asked to void immediately before premedication, and were examined in the anoesthetic room. After passage of the cystoscope the bladder was emptied as fully as possible by manual expression and the urine volume was recorded. 20 patients were definite that suprapubic pressure evoked a call to micturition (sign positive) and 25 that it did not. Bladder volumes in these patients are shown in the table. In 5 patients the examination was inconclusive: 2 patients were uncertain (each with 130 ml); 1 was confused (30 ml); 1 already had a persistent urge to micturate (80 ml); and 1 with cystitis complained only of tenderness (80 ml). All 20 patients in whom suprapubic palpation evoked a call to micturition had at least 100 ml of urine in the bladder. Only 2 of those bladders were objectively palpable and percussable (340 ml and 980 ml respectively). The remaining 18 had a mean volume of 3 95 ±170 ml, including one obese woman with as much as 825 ml. None of the 25 patients with negative findings had more than 200 ml. Anatomical variation precludes an absolute dividing line between positive and negative responses in terms of bladder volume. The results did show that when suprapubic pressure evokes a call to micturition the bladder probably contains more than 100 ml of urine: conversely, where suprapubic pressure does not evoke a call to micturition, the bladder probably contains less than 200 ml. Clinical applications include the diagnosis of retention with overflow; older men attending the outpatient are routinely screened thus for residual urine. Postoperative retention mav be readily detected and its regression monitored, sometimes bv

937 self-examination. A full bladder may be differentiated from other fluid collections such as a large ovarian cyst or loculated ascites. _

St. Richard’s Hospital, Chichester, West Sussex PO19 4SE

E. C. ASHBY

Therapeutic agents cannot reach the fungus which is protected by the keratin in which it grows. Several years ago I acquired onychomycosis of nails of the right thumb and both large toes caused by Trichophyton sp. I was given griseofulvin for a year, with clearing of the thumb nail but only slight improvement in the toenails. Although symptom-free I wanted to eliminate the fungus, so

following

TRYPTOPHAN IN PATIENTS ON CHRONIC HÆMODIALYSIS

SIR,-There is increasing evidence that

low free tryptodepression. In patients on chronic hsemodiatysis, depression and even dementia have been reported.2 Dementia might be a toxic encephalopathy due to trace elements such as copper, zinc, lead, cadmium and aluminium.3-6 But we believe that the psychiatric symptoms may result from a tryptophan deficiency. a

phan concentration is associated with

SERUM TRYPTOPHAN

([Hnol/1) BEFORE AND AFTER HÆMODIALYSIS

I devised the treatment. The nail is washed with soap and water and cleaned with alcohol. Then, with a sterile 18 or 20 gauge needle, five or six holes are drilled in the nail plate, in the form of a crescent about 2 mm distal to the lunula. Anaesthesia is not necessary. However, the introduction of the needle is felt when the nail bed is reached. Cultures may be made from the powder drilled up by the needle. The holes are enlarged by dipping a round toothpick in bichloroacetic acid and drilling through the hole in the nail. When the acid reaches the nail bed a burning sensation is felt. The area also blanches as the acid reaches the fungus in the keratin. Thereafter, an ointment composed of 3% precipitated sulphur, and 3% salicylic acid in petrolatum, is applied on the affected toes each morning. A week later, five or six new holes are drilled about 2 mm distal to and between the original ones, to obtain

greater distribution of the therapeutic agent. The treatment proved effective, presumably because the therapeutic agent could reach the fungus once the protective keratin barrier was breached. If necessary, more holes could be drilled, and further applications of acid or other antifungal agents could be given. If the nail is hard and very thick, a small dental electric drill could be used. The patient should be checked frequently in order to guard against complications such as infections and reactions to the acid.

a

Worcester

City Hospital,

JACOB BREM

Worcester, Massachusetts 01610, U.S.A.

IATROGENIC POLYDIPSIA

Using the method of Denckla and Dewey, we measured total serum-tryptophan before and after dialysis in 9 patients. Initially, it was not particularly low (reference values 40-100

pmol;1), but there was a significant decrease in concentration after dialysis in all patients (see table). The patients had a standardised protein intake (40g/day) supplemented with an essential amino acid preparation (’Aminess’), which was equivalent to a mean of 1-1 .mmol tryptophan/day. We do not know if the decrease in serum-tryptophan after dialysis would have been enough to induce depression and dementia if no extra tryptophan had been given. None of the 9 patients had signs of psychiatric disturbance, but this could be due either to the dietary supplementation or to the relatively short time of dialysis, or both. of Thoracic Medicine, Karolinska Hospital, S-10401 Stockholm, Sweden

Department

Department of Medicine, Karolinska Hospital Department of Clinical Chemistry, Serafirner Hospital, Stockholm

GUNNAR UNGE LARS-ERIC LINS ERIC HULTMAN

TREATING ONYCHOMYCOSIS

StR,-Treatment for onychomycosis is not satisfactory since surgical removal of the toenails and long courses of griseofulvin are usually required. Moreover, recurrences are frequent.’ 1.Coppen, A., Eccleston, E. C., Peet, M. Lancet, 1972,ii, 1415. 2.British Medical Journal. 1976, ii. 1213 3.Flendrig, J. A., Kruis, H., Das, H. A. Lancet, 1976, i, 1235. 4.Ulmer, D.D.New Engl. J.Med. 1976, 294, 218. 5.Platts, M. M., Moorhead, P. J., Gretch, P. Lancet, 1973, ii, 159. 6.Lyle,W.H.ibid.271. 7.Denckla, W. D., Dewey, H. K. J. lab. clin. Med. 1976, 69,160.

SIR,-We describe here sive

water

and

was

a

patient with

a

variant

of compul-

drinking induced by medical advice for the treatment of nephrolithiasis. A 44-year-old post-office worker presented with complaints of excessive thirst and polyuria. 4 years previously, he had had renal colic and had been advised by his physician to increase his fluid intake. Since then he had been drinking water frequently throughout the day. Recently he had had polyuria which interfered with his daily activities, especially while on military reserve duty. During the month before admission, he was drinking every 20 min, micturating with similar frequency unable to work or travel because of his embarrassand dependence on a water supply and adjacent closet. He had nocturia several times. There were no physical findings. The osmolalities of blood and urine were 286 and 87 mosmol/kg H2O, respectively. Blood creatinine, glucose, potassium, and calcium levels were normal. During his admission the patient carefully recorded every fluid intake and urine output. He drank 9 litres by day and 2.8 litres by night and passed comparable quantities of urine. During water deprivation for 14 h, the patient’s urine output decreased and the concentration of his urine rose to 649 mosmol/kg H2O. This was also therapeutic, convincing him of his ability to moderate his fluid intake. He was advised to reduce his drinking to 2.0 litres/day. He remains well after follow-up for 9 months and is working full-time. When a patient has polydipsia and polyuria but normal renal function and glucose.and electrolyte levels, he may have diabetes insipidus or a compulsion to drink water. In this case, the latter seems more likely. The patient did not show the psychological disturbance usual in compulsive water drinking,’1 although the careful records he kept of his fluid balance sug-

ment

1. Barlow, E.

D., de Wardener, H. E. Q. Jl. Med. 1959. 28, 235.