1
475 beneficial effects of vagotomy in some patients, but we feel that the operation should be restricted to patients with duodenal ulcer in whom gastric resection is difficult or possibly hazardous. Vagotomy is rarely justifiable in patients with gastric ulcer; very few of these patients have hypersecretion or hypermotility, and there is no reason to believe why they should benefit from destruction of the Darasvmpathetic nervous supplv. J. F. W. HAFFNER. J. O. STADAAS. Department of Pharmacology, University of Oslo, Blindern-Oslo 3. Department of Surgery, Ullevaal Hospital, Oslo 1, Norway. DIRECTION FOR HEALTH SERVICE RESEARCH MILES HARDIE. SiR,-You refer in an editorial (Aug. 22, p. 404) to the " impressive and imaginative administrative structure " worked out by the Social Science Research Council to help decide policies and priorities for its expenditure of some 2-1/4 million. This prompts one to ask whether a similar structure should be devised to help determine policies for the expenditure of the t51/4 million allocated (for 1970-71) by the Department of Health and Social Security for extra- mural research and development in the health and welfare services. There has in recent years been a welcome increase in the funds allotted for such purposes, as distinct from clinical research, and much valuable work has been done as a result. But there is still too little public information and debate about the strategy for research in the health and welfare services. What are the overall policies and priorities for the expenditure of this t51/4 million of the taxpayers’ money? How should these priorities be assessed, and by whom? To echo the question posed in your editorial earlier this year/ has the time come to set up a Health Services Research Council ? FAMILIAL METAPHYSEAL DYSPLASIA? SIR,-I would doubt whether the findings described by Dr. Gladney and Dr. Monteleone (July 4, p. 44) justify a diagnosis of Pyle’s metaphyseal dysplasia. The considerable cranial involvement of their patient would rather favour a diagnosis of craniometaphyseal dysplasia. Pyle’s disease and craniometaphyseal dysplasia constitute two different clinical and genetic entities. 2 In Pyle’s disease there is only minimal cranial involve- ment. Pyle himself never published a skull-film of his patient. A member of the family observed by him 3 and later by Bakwin and Krida 4 is still alive. Through the courtesy of Dr. Bakwin and Dr. Silverman I recently had the opportunity to review a skull-film of this patient. It did not show the intensive increase in bone density which was present in Gladney and Monteleone’s patients, even though the film was taken in later adulthood. It resembled the skull depicted by Cohn in the first full description of the disease.5 The metaphyseal flare of the long bones is notably abrupt-" Erlenmeyer flask-like "-in Pyle’s disease. The data so far favour a recessive mode of inheritance. In craniometaphyseal dysplasia there are pronounced cranial hyperostosis and sclerosis and symptoms of cranial- nerve compression. The metaphyseal flare of the tubular 1. Lancet, 1970, i, 281. 2. Gorlin, R. J., Spranger, J., Koszalke, M. F. Birth Def. orig. Artic. Ser. 1969, 5, 79. 3. Pyle, E. J. Bone Jt Surg. 1931, 13, 874. 4. Bakwin, H., Krida, A. Am. J. Dis. Child. 1937, 53, 1521. 5. Cohn, M. Fortschr. R&ouml;ntgenstr. 1933, 47, 293. bones is mild-" club-like". Autosomal-dominant trans- mission has repeatedly been observed and the otological aspects have been well described. 6 Pyle’s disease and craniometaphyseal dysplasia have been confused by many, including me. For genetic and prognostic reasons they can and should be differentiated. There is no reason to imply heterogeneity, since different genotypes are expressed by different phenotypes. J. SPRANGER. Department of Pediatrics University of Wisconsin, Madison, Wisconsin. DIGESTION IN THE NEWBORN DUGALD R. MURDOCH. biR,&ncedil;I refer to the reply of Dr. Husband and her colleagues to Mr. Ellison Nash (Aug. 15, p. 373). One may grant that their experiment was justifiable on grounds of possible therapeutic value and of the " minor and everyday procedures " used (though the amount of distress occasioned is open to dispute). The question of consent, however, is a separate and important moral issue. They write " A pro- cedure on a child is not made any more ethical by the parents’ written consent "-true, but beside the point, for in all scientific experiments on human beings, however minor, it is a cardinal moral requirement that the person’s consent be obtained, or, in the case of infants, the consent of parent or guardian. However conscious Dr. Husband and her colleagues were of their responsibility " in loco parentis ", the parents ought surely to have been consulted. ABO BLOOD-GROUPS AND HUNTINGTON’S CHOREA SiR,-In an attempt to increase the power of genetic counselling we have undertaken a long-term genetic linkage study in patients with Huntington’s chorea and their families. Because of the variable age of onset of the disease, this study is still in its infancy. However, we were initially struck by the possibility of a blood-group disease asso- ciation, independent of chromosomal linkage. Such associations previously have been suggested for a variety of conditions.8 Blood-samples from 70 unrelated patients were analysed for ABO, Rh, MNS, P, Kell, Lewis, Lutheran, and Duffy blood-groups. Comparison was made with published normal control populations from the U.S.A.8-11 No association was found between Huntington’s chorea and blood-groups other than ABO. Because the data of Buck- walter et al. on ABO frequencies are most extensive and are derived from a control population nearest to the patient group in ethnic derivation, only these figures are shown in the accompanying table, although the three control series are virtually identical. The numbers in our B and AB categories were too small for valid statistical evaluation, and these groups were pooled.12 When the distributions of ABO blood-groups in patients with Huntington’s chorea are compared to controls, x2=6’19 and p<005. Although the numbers are small, closer study of the table suggests that the statistical signifi- cance is due largely to an excess of blood-group A and a 6. Graf, K. Z. Laryng. Rhinol. 1965, 44, 1965. 7. Spranger, J., Paulsen, K., Lehmann, W. Z. Kinderheilk, 1965, 93, 64. 8. Talbots, S., Wakley, E. J., Ryrie, D., Langman, M. J. S. Lancet, 1970, i, 1257. 9. Buckwalter, J. A., Turner, J. H., Raterman, L., Tindrick, R. J., Knowles, L. A. J. Am. med. Ass. 1957, 165, 327. 10. Shaw, M. W., Gershowitz, H. Am. J. hum. Genet. 1962, 14, 317. 11. Myrianthopoulos, N. C., Leyshow, W. C. ibid. 1967, 19, 607. 12. Siegel, S. Nonparametric Statistics for the Behavioral Sciences; p. 46. New York, 1956.

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475

beneficial effects of vagotomy in some patients, but we feelthat the operation should be restricted to patients withduodenal ulcer in whom gastric resection is difficult or

possibly hazardous. Vagotomy is rarely justifiable in

patients with gastric ulcer; very few of these patients havehypersecretion or hypermotility, and there is no reason tobelieve why they should benefit from destruction of theDarasvmpathetic nervous supplv.

J. F. W. HAFFNER.

J. O. STADAAS.

Department of Pharmacology,University of Oslo,Blindern-Oslo 3.

Department of Surgery,Ullevaal Hospital,Oslo 1, Norway.

DIRECTION FOR HEALTH SERVICE RESEARCH

MILES HARDIE.

SiR,-You refer in an editorial (Aug. 22, p. 404) to the" impressive and imaginative administrative structure "worked out by the Social Science Research Council tohelp decide policies and priorities for its expenditure ofsome 2-1/4 million.

This prompts one to ask whether a similar structureshould be devised to help determine policies for the

expenditure of the t51/4 million allocated (for 1970-71) bythe Department of Health and Social Security for extra-mural research and development in the health and welfareservices. There has in recent years been a welcome increasein the funds allotted for such purposes, as distinct fromclinical research, and much valuable work has been done asa result. But there is still too little public information anddebate about the strategy for research in the health andwelfare services. What are the overall policies and prioritiesfor the expenditure of this t51/4 million of the taxpayers’money? How should these priorities be assessed, and bywhom? To echo the question posed in your editorialearlier this year/ has the time come to set up a HealthServices Research Council ?

FAMILIAL METAPHYSEAL DYSPLASIA?

SIR,-I would doubt whether the findings described byDr. Gladney and Dr. Monteleone (July 4, p. 44) justify adiagnosis of Pyle’s metaphyseal dysplasia. The considerablecranial involvement of their patient would rather favoura diagnosis of craniometaphyseal dysplasia. Pyle’s diseaseand craniometaphyseal dysplasia constitute two differentclinical and genetic entities. 2

In Pyle’s disease there is only minimal cranial involve-ment. Pyle himself never published a skull-film of hispatient. A member of the family observed by him 3 andlater by Bakwin and Krida 4 is still alive. Through thecourtesy of Dr. Bakwin and Dr. Silverman I recently hadthe opportunity to review a skull-film of this patient. It didnot show the intensive increase in bone density which waspresent in Gladney and Monteleone’s patients, even thoughthe film was taken in later adulthood. It resembled theskull depicted by Cohn in the first full description of thedisease.5 The metaphyseal flare of the long bones is notablyabrupt-" Erlenmeyer flask-like "-in Pyle’s disease. Thedata so far favour a recessive mode of inheritance.

In craniometaphyseal dysplasia there are pronouncedcranial hyperostosis and sclerosis and symptoms of cranial-nerve compression. The metaphyseal flare of the tubular

1. Lancet, 1970, i, 281.2. Gorlin, R. J., Spranger, J., Koszalke, M. F. Birth Def. orig. Artic.

Ser. 1969, 5, 79.3. Pyle, E. J. Bone Jt Surg. 1931, 13, 874.4. Bakwin, H., Krida, A. Am. J. Dis. Child. 1937, 53, 1521.5. Cohn, M. Fortschr. R&ouml;ntgenstr. 1933, 47, 293.

bones is mild-" club-like". Autosomal-dominant trans-mission has repeatedly been observed and the otologicalaspects have been well described. 6 Pyle’s disease andcraniometaphyseal dysplasia have been confused by many,including me. For genetic and prognostic reasons they canand should be differentiated. There is no reason to implyheterogeneity, since different genotypes are expressed bydifferent phenotypes.

J. SPRANGER.

Department of PediatricsUniversity of Wisconsin,Madison, Wisconsin.

DIGESTION IN THE NEWBORN

DUGALD R. MURDOCH.

biR,&ncedil;I refer to the reply of Dr. Husband and hercolleagues to Mr. Ellison Nash (Aug. 15, p. 373). One maygrant that their experiment was justifiable on grounds ofpossible therapeutic value and of the " minor and everydayprocedures " used (though the amount of distress occasionedis open to dispute). The question of consent, however, is aseparate and important moral issue. They write " A pro-cedure on a child is not made any more ethical by theparents’ written consent "-true, but beside the point, forin all scientific experiments on human beings, howeverminor, it is a cardinal moral requirement that the person’sconsent be obtained, or, in the case of infants, the consentof parent or guardian. However conscious Dr. Husbandand her colleagues were of their responsibility " in locoparentis ", the parents ought surely to have beenconsulted.

ABO BLOOD-GROUPS ANDHUNTINGTON’S CHOREA

SiR,-In an attempt to increase the power of geneticcounselling we have undertaken a long-term genetic linkagestudy in patients with Huntington’s chorea and theirfamilies. Because of the variable age of onset of the disease,this study is still in its infancy. However, we were initiallystruck by the possibility of a blood-group disease asso-ciation, independent of chromosomal linkage. Suchassociations previously have been suggested for a variety ofconditions.8 Blood-samples from 70 unrelated patients wereanalysed for ABO, Rh, MNS, P, Kell, Lewis, Lutheran,and Duffy blood-groups. Comparison was made withpublished normal control populations from the U.S.A.8-11No association was found between Huntington’s chorea andblood-groups other than ABO. Because the data of Buck-walter et al. on ABO frequencies are most extensive andare derived from a control population nearest to the patientgroup in ethnic derivation, only these figures are shown inthe accompanying table, although the three control seriesare virtually identical. The numbers in our B and AB

categories were too small for valid statistical evaluation, andthese groups were pooled.12When the distributions of ABO blood-groups in patients

with Huntington’s chorea are compared to controls,x2=6’19 and p<005. Although the numbers are small,closer study of the table suggests that the statistical signifi-cance is due largely to an excess of blood-group A and a6. Graf, K. Z. Laryng. Rhinol. 1965, 44, 1965.7. Spranger, J., Paulsen, K., Lehmann, W. Z. Kinderheilk, 1965, 93, 64.8. Talbots, S., Wakley, E. J., Ryrie, D., Langman, M. J. S. Lancet,

1970, i, 1257.9. Buckwalter, J. A., Turner, J. H., Raterman, L., Tindrick, R. J.,

Knowles, L. A. J. Am. med. Ass. 1957, 165, 327.10. Shaw, M. W., Gershowitz, H. Am. J. hum. Genet. 1962, 14, 317.11. Myrianthopoulos, N. C., Leyshow, W. C. ibid. 1967, 19, 607.12. Siegel, S. Nonparametric Statistics for the Behavioral Sciences;

p. 46. New York, 1956.