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GAUCHER CELLS IN HEALTHY RELATIVES OF PATIENTS WITH GAUCHER'S DISEASE
866
frequently
most, if not all, of the it an excellent way of is thymus by getting out involved lymph-nodes in patients with papillary thyroid carcinoma. The thymusis best seen when operating on hyperthyroid patients as it is then often enlarged. I have, on occasion, been constrained to take a biopsy of it to convince a doubting assistant that it really I
remove a
the cervical
was
portion
or
route as
thymus.
Postgraduate Medical School, London, W.12.
SELWYN TAYLOR.
TOO MUCH WORK?
SIR,-Dr. Fry and Dr. Dillane are to be congratulated their paper (Sept. 19) analysing their work-load in general practice over fifteen years. Whilst gratefully acknowledging the factual content, I think their interpretations warrant close scrutiny. Accepting for the moment that doctor-patient contacts are a measure of the work done in general practice, I have difficulty in following the argument from table 11. In 1955, though an assistant was employed, the rate increased by 0-3 over 1954. Is the assistant included in the count of the doctor-patient contacts ? In 1957, the year of the Asian influenza epidemic, the count is 0-4 higher than in 1956, and drops in 1958 by 0-3. on
The authors, however, claim that " the load was altered more by internal factors within the practice-e.g., employment of an assistant ... than by external factors such as the influenza epidemic of 1957 ". But the epidemic did not last the whole year. What was the extra load during those few months ? I think back to the mad rush and strain of the work during that epidemic, and ask where it is to be found in such a method of computation. In 1961 the load increased by 0.1 in spite of a third doctor, and in 1963 dropped by 0-5 after the attachment of a health visitor and the introduction of an appointment system. But this was balanced by the health-visitor/ patient contact of 0-5. This surely means that the work load was not altered, but only shifted a little. Doctors working in modern, efficient, highly organised, much-staffed, statistically processed practices must overlook a vast amount of early unorganised emotional ill-health. Even where recognised it tends to be classed as minor ", suitable for a skilled General perhaps ancillary ". practice today is hag-ridden by mythologies. My pet dislike is the assumption that patients come to us with a disease " (see table iv), it just is not true. The doctor-patient contact is a "
"
"
barren neutered index which has no room to express the experience of the contact and its meaning to both parties. No artificial unit is a valid representation of the work done in general practice; in fact the doctor-patient contact is the antithesis of the doctor-patient relationship.
May I
say that my
enjoyment of the
paper has
stimulated these criticisms. London, W.13.
AARON LASK.
GAUCHER CELLS IN HEALTHY RELATIVES OF PATIENTS WITH GAUCHER’S DISEASE SIR,-Gaucher-like cells have been repeatedly demonstrated in the bone-marrow of clinically normal relatives of Gaucher’s disease. These " bonepatients with overt " marrow-positive persons have been said to have abortive forms of Gaucher’s disease. Furthermore, they are taken to prove the irregular dominant mode of inheritance supposed to be present in Gaucher’s disease.1-6
recently diagnosed Gaucher’s disease in 2 sisters, aged one year and three years, whose parents were healthy. The We
1. 2. 3. 4. 5.
6.
Groen, J., Garrer, A. H. Blood, 1948, 3, 1221. Groen, J. ibid. p. 1238. Stransky, E., Dauis-Lawas, D. F. Amer. J. Dis. Child. 1949, 78, 694. Stransky, E., Conchu, T. L. Ann. pœdiat, 1951, 177, 319. Franceschetti, A., Klein, D., Babel, J. Arch. Neuropsiq., S. Pàulo, 1955, 13, 69. Klein, D., Franceschetti, A. in Handbuch der Humangenetik (edited by P. E. Becker); vol. IV. Stuttgart, 1964.
patients exhibited the typical features of Gaucher’s disease, such as splenohepatomegaly, hasmatomas, thrombocytopenia, early bone changes on X-ray examination, and pronounced storage in the reticular system. Both parents and the sixyear-old sister were clinically normal. Examination of their bone-marrow, however, disclosed typical Gaucher cells. To our knowledge, this finding of Gaucher cells in both parents has not been previously reported. We agree with Hsia’sview that there are at least three genetically different types of Gaucher’s disease. Gaucher cells in the bone-marrow as the only abnormal finding in otherwise healthy relatives of patients with Gaucher’s disease may indicate a latent or abortive form of Gaucher’s disease or a state
of incomplete
recessivity.
the positive bone-marrow finding in the and of our patient as an indication of their sister parents We
regard
heterozygous state. Heterozygosity tests are, as is well known, valuable tools for discovering the trait in clinically normal relatives. A negative test would of course not definitelv rule
out heterozveositv. Pædiatric Department, Christian-Albrechts University, Kiel, Western Germany.
7.
H.-R. WIEDEMANN H. GERKEN.
Hsia, D. Y. Y., Naylor, J., Bigler, J. A. New Engl. J. Med. 1959, 261, 164.
Diary of the Week OCT.
Monday,
18
To
24
19th
ROYAL COLLEGE OF PHYSICIANS OF LONDON, 11, St. Andrew’s Place, N.W.11 3 P.M. Sir George Pickering: Physician and Scientist. (Harveian oration.) UNIVERSITY OF LONDON 5.30 P.M. (London School of Hygiene and Tropical Medicine, Keppel Street, W.C.I.) Prof. George Klein (Stockholm): Immunology of Experimental Tumours. POSTGRADUATE MEDICAL SCHOOL OF LONDON, Ducane Road, W.12 4 P.M. Dr. R. W. Luxton: Radiation Nephritis.
Tuesday, 20th BRITISH POSTGRADUATE MEDICAL FEDERATION 5.30 P.M. (Senate House, University of London, W.C.I.) Sir Robert Platt: The Ethical Basis of Medical Science. ST. MARY’S HOSPITAL MEDICAL SCHOOL, W.2 5 P.M. Dr. J. G. Bate: So-called " Special " Tumours of the Ovary. SOCIETY FOR THE STUDY OF ADDICTION 5.30 P.M. (King’s College, Strand, W.C.2.) Prof. L. Goldberg (Stockholm) : Dependence on Alcohol. (John Yerbury Dent lecture.) ROYAL COLLEGE OF SURGEONS OF EDINBURGH, Nicolson Street, Edinburgh, 8 5- P.M. Mr. T. Keith Lyle: Optic Disc CEdema. (Alexander Welsh
lecture.) Wednesday, 21st
_
ROYAL COLLEGE OF SURGEONS OF ENGLAND, Lincoln’s Inn Fields, W.C.2 5 P.M. Dr. A. C. Thackray: Pathology of Renal Carcinoma. POSTGRADUATE MEDICAL SCHOOL OF LONDON 2 P.M. Mr. T. Whitehead: Biochemical Assessment of Alterations of Acid-base State. INSTITUTE OF DISEASES OF THE CHEST, Brompton, S.W.3 5 P.M. Dr. V. H. Springett: Value of B.C.G. Vaccination. INSTITUTE OF DERMATOLOGY, Lisle Street, W.C.2 4.30 P.M. Dr. L. Szur: Introduction to Radiotherapy. INSTITUTE OF NEUROLOGY, Queen Square, W.C.1 6 P.M. Lord Brain: Clinical Approach to Neurology. 7 P.M. Prof. J. Z. Young: Experimental Approach to Neurology. ROYAL FREE HOSPITAL, Gray’s Inn Road, W.C.1 5.15 P.M. Dr. D. Price Evans: Genes and Disease. ROYAL COLLEGE OF SURGEONS OF EDINBURGH 3.30 P.M. Mr. H. E. Lockhart-Mummery: Inflammatory Diseases of the Large Intestine.
Thursday,
22nd
INSTITUTE OF DERMATOLOGY 4.30 P.M. Dr. Y. M. Clayton: Structure of Pathogenic Fungi. INSTITUTE OF LARYNGOLOGY AND OTOLOGY, 330, Gray’s Inn Road, W.C.1 5.30 P.M. Mr. Peter Clifford (Nairobi): Cancer of the Naso-Pharynx. LONDON JEWISH HOSPITAL MEDICAL SOCIETY 8.15 P.M. (11, Chandos Street, W.I.) Dr. Laurence Phillips: The Society ńa Memoir. (Presidential address.) MANCHESTER MEDICAL SOCIETY 8 P.M. (Clinical Sciences Building, York Place.) Section of Ancesthetics. Dr. William Broadhurst: Recollections. (Presidential address.) UNIVERSITY OF ST. ANDREWS 5 P.M. (Queen’s College, Dundee.) Dr. C. H. M. Walker: Partial Extracorporeal Perfusion in Infants. UNIVERSITY OF ABERDEEN 4.30 P.M. (University Medical Buildings, Foresterhill.) Dr. N. B. Eddy: Problems of Drug Addiction.
Friday,
23rd
POSTGRADUATE MEDICAL SCHOOL OF LONDON 10 A.M. Prof. Harding Rains: Aetiology of Gallstones. 4 P.M. Prof. S. Garattini: Pharmacological Effects of Reserpine. INSTITUTE OF LARYNGOLOGY AND OTOLOGY 4.30 P.M. Mr. Norman Tanner: Malignant Disease of the
(Esophagus.
frequently
most, if not all, of the it an excellent way of is thymus by getting out involved lymph-nodes in patients with papillary thyroid carcinoma. The thymusis best seen when operating on hyperthyroid patients as it is then often enlarged. I have, on occasion, been constrained to take a biopsy of it to convince a doubting assistant that it really I
remove a
the cervical
was
portion
or
route as
thymus.
Postgraduate Medical School, London, W.12.
SELWYN TAYLOR.
TOO MUCH WORK?
SIR,-Dr. Fry and Dr. Dillane are to be congratulated their paper (Sept. 19) analysing their work-load in general practice over fifteen years. Whilst gratefully acknowledging the factual content, I think their interpretations warrant close scrutiny. Accepting for the moment that doctor-patient contacts are a measure of the work done in general practice, I have difficulty in following the argument from table 11. In 1955, though an assistant was employed, the rate increased by 0-3 over 1954. Is the assistant included in the count of the doctor-patient contacts ? In 1957, the year of the Asian influenza epidemic, the count is 0-4 higher than in 1956, and drops in 1958 by 0-3. on
The authors, however, claim that " the load was altered more by internal factors within the practice-e.g., employment of an assistant ... than by external factors such as the influenza epidemic of 1957 ". But the epidemic did not last the whole year. What was the extra load during those few months ? I think back to the mad rush and strain of the work during that epidemic, and ask where it is to be found in such a method of computation. In 1961 the load increased by 0.1 in spite of a third doctor, and in 1963 dropped by 0-5 after the attachment of a health visitor and the introduction of an appointment system. But this was balanced by the health-visitor/ patient contact of 0-5. This surely means that the work load was not altered, but only shifted a little. Doctors working in modern, efficient, highly organised, much-staffed, statistically processed practices must overlook a vast amount of early unorganised emotional ill-health. Even where recognised it tends to be classed as minor ", suitable for a skilled General perhaps ancillary ". practice today is hag-ridden by mythologies. My pet dislike is the assumption that patients come to us with a disease " (see table iv), it just is not true. The doctor-patient contact is a "
"
"
barren neutered index which has no room to express the experience of the contact and its meaning to both parties. No artificial unit is a valid representation of the work done in general practice; in fact the doctor-patient contact is the antithesis of the doctor-patient relationship.
May I
say that my
enjoyment of the
paper has
stimulated these criticisms. London, W.13.
AARON LASK.
GAUCHER CELLS IN HEALTHY RELATIVES OF PATIENTS WITH GAUCHER’S DISEASE SIR,-Gaucher-like cells have been repeatedly demonstrated in the bone-marrow of clinically normal relatives of Gaucher’s disease. These " bonepatients with overt " marrow-positive persons have been said to have abortive forms of Gaucher’s disease. Furthermore, they are taken to prove the irregular dominant mode of inheritance supposed to be present in Gaucher’s disease.1-6
recently diagnosed Gaucher’s disease in 2 sisters, aged one year and three years, whose parents were healthy. The We
1. 2. 3. 4. 5.
6.
Groen, J., Garrer, A. H. Blood, 1948, 3, 1221. Groen, J. ibid. p. 1238. Stransky, E., Dauis-Lawas, D. F. Amer. J. Dis. Child. 1949, 78, 694. Stransky, E., Conchu, T. L. Ann. pœdiat, 1951, 177, 319. Franceschetti, A., Klein, D., Babel, J. Arch. Neuropsiq., S. Pàulo, 1955, 13, 69. Klein, D., Franceschetti, A. in Handbuch der Humangenetik (edited by P. E. Becker); vol. IV. Stuttgart, 1964.
patients exhibited the typical features of Gaucher’s disease, such as splenohepatomegaly, hasmatomas, thrombocytopenia, early bone changes on X-ray examination, and pronounced storage in the reticular system. Both parents and the sixyear-old sister were clinically normal. Examination of their bone-marrow, however, disclosed typical Gaucher cells. To our knowledge, this finding of Gaucher cells in both parents has not been previously reported. We agree with Hsia’sview that there are at least three genetically different types of Gaucher’s disease. Gaucher cells in the bone-marrow as the only abnormal finding in otherwise healthy relatives of patients with Gaucher’s disease may indicate a latent or abortive form of Gaucher’s disease or a state
of incomplete
recessivity.
the positive bone-marrow finding in the and of our patient as an indication of their sister parents We
regard
heterozygous state. Heterozygosity tests are, as is well known, valuable tools for discovering the trait in clinically normal relatives. A negative test would of course not definitelv rule
out heterozveositv. Pædiatric Department, Christian-Albrechts University, Kiel, Western Germany.
7.
H.-R. WIEDEMANN H. GERKEN.
Hsia, D. Y. Y., Naylor, J., Bigler, J. A. New Engl. J. Med. 1959, 261, 164.
Diary of the Week OCT.
Monday,
18
To
24
19th
ROYAL COLLEGE OF PHYSICIANS OF LONDON, 11, St. Andrew’s Place, N.W.11 3 P.M. Sir George Pickering: Physician and Scientist. (Harveian oration.) UNIVERSITY OF LONDON 5.30 P.M. (London School of Hygiene and Tropical Medicine, Keppel Street, W.C.I.) Prof. George Klein (Stockholm): Immunology of Experimental Tumours. POSTGRADUATE MEDICAL SCHOOL OF LONDON, Ducane Road, W.12 4 P.M. Dr. R. W. Luxton: Radiation Nephritis.
Tuesday, 20th BRITISH POSTGRADUATE MEDICAL FEDERATION 5.30 P.M. (Senate House, University of London, W.C.I.) Sir Robert Platt: The Ethical Basis of Medical Science. ST. MARY’S HOSPITAL MEDICAL SCHOOL, W.2 5 P.M. Dr. J. G. Bate: So-called " Special " Tumours of the Ovary. SOCIETY FOR THE STUDY OF ADDICTION 5.30 P.M. (King’s College, Strand, W.C.2.) Prof. L. Goldberg (Stockholm) : Dependence on Alcohol. (John Yerbury Dent lecture.) ROYAL COLLEGE OF SURGEONS OF EDINBURGH, Nicolson Street, Edinburgh, 8 5- P.M. Mr. T. Keith Lyle: Optic Disc CEdema. (Alexander Welsh
lecture.) Wednesday, 21st
_
ROYAL COLLEGE OF SURGEONS OF ENGLAND, Lincoln’s Inn Fields, W.C.2 5 P.M. Dr. A. C. Thackray: Pathology of Renal Carcinoma. POSTGRADUATE MEDICAL SCHOOL OF LONDON 2 P.M. Mr. T. Whitehead: Biochemical Assessment of Alterations of Acid-base State. INSTITUTE OF DISEASES OF THE CHEST, Brompton, S.W.3 5 P.M. Dr. V. H. Springett: Value of B.C.G. Vaccination. INSTITUTE OF DERMATOLOGY, Lisle Street, W.C.2 4.30 P.M. Dr. L. Szur: Introduction to Radiotherapy. INSTITUTE OF NEUROLOGY, Queen Square, W.C.1 6 P.M. Lord Brain: Clinical Approach to Neurology. 7 P.M. Prof. J. Z. Young: Experimental Approach to Neurology. ROYAL FREE HOSPITAL, Gray’s Inn Road, W.C.1 5.15 P.M. Dr. D. Price Evans: Genes and Disease. ROYAL COLLEGE OF SURGEONS OF EDINBURGH 3.30 P.M. Mr. H. E. Lockhart-Mummery: Inflammatory Diseases of the Large Intestine.
Thursday,
22nd
INSTITUTE OF DERMATOLOGY 4.30 P.M. Dr. Y. M. Clayton: Structure of Pathogenic Fungi. INSTITUTE OF LARYNGOLOGY AND OTOLOGY, 330, Gray’s Inn Road, W.C.1 5.30 P.M. Mr. Peter Clifford (Nairobi): Cancer of the Naso-Pharynx. LONDON JEWISH HOSPITAL MEDICAL SOCIETY 8.15 P.M. (11, Chandos Street, W.I.) Dr. Laurence Phillips: The Society ńa Memoir. (Presidential address.) MANCHESTER MEDICAL SOCIETY 8 P.M. (Clinical Sciences Building, York Place.) Section of Ancesthetics. Dr. William Broadhurst: Recollections. (Presidential address.) UNIVERSITY OF ST. ANDREWS 5 P.M. (Queen’s College, Dundee.) Dr. C. H. M. Walker: Partial Extracorporeal Perfusion in Infants. UNIVERSITY OF ABERDEEN 4.30 P.M. (University Medical Buildings, Foresterhill.) Dr. N. B. Eddy: Problems of Drug Addiction.
Friday,
23rd
POSTGRADUATE MEDICAL SCHOOL OF LONDON 10 A.M. Prof. Harding Rains: Aetiology of Gallstones. 4 P.M. Prof. S. Garattini: Pharmacological Effects of Reserpine. INSTITUTE OF LARYNGOLOGY AND OTOLOGY 4.30 P.M. Mr. Norman Tanner: Malignant Disease of the
(Esophagus.