1362
syndrome group. Assay of COMT activity in patients with VCF syndrome who have a psychiatric disorder would test our
hypothesis. Division of Medical and Molecular Genetics, Prince Philip Research Laboratory,
Guy’s Hospital Tower,
IAN DUNHAM
London
JOHN COLLINS
Department of Biochemistry and Molecular Genetics, St Mary’s Hospital Medical School, London W2 1 PG, UK
ROY WADEY PETER SCAMBLER
1. Scambler PJ, Kelly D, Lindsay E, et al. Velo-cardio-facial syndrome associated with chromosome 22 deletions which encompass the DiGeorge syndrome locus. Lancet 1992; 339: 1138-39. 2. Shprintzen RJ, Golberg R, Golding-Kushner KJ, Marion R. Late-onset psychosis in the velo-cardio-facial syndrome. Am J Med Genet 992; 42: 141-42. 3. Winqvist R, Lundstrom K, Salminen M, Laatikainen M, Ulmanen I. The human
catechol-O-methyltransferase (COMT) gene maps to band q11·2 of chromosome 22 and shows a frequent RFLP with BglI, Cytogenet Cell Genet 1992; 59: 253-57. 4. Grossman MH, Emanuel BS, Budarf ML. Chromosomal mapping of the human catechol-O-methyltransferase gene to 22q11·1-q11·2. Genomics 1992; 12: 822-25. 5. Kaplan GP, Hartman BK, Creveling CR. Localisation of 4 catechol-Omethyltransferase in the leptomeninges, choroid plexus and ciliary epithelium: implications for the separation of central and peripheral catechols. Brain Res 1981; 204: 353-60. 6. Barnea ER, Maclusky NJ, Dechemey AH, Naftolin F. Catechol-O-methyltransferase activity in the human term placenta. Am J Perinatol 1988; 5: 121-27. 7. Reilly DK, Rivera-Calimlim L, Van Dyke D. Catechol-O-methyltransferase activity: a determinant of levodopa response. Clin Pharmacol Ther 1980; 28: 278-86. 8. Cohn CK, Dunner DL, Axelrod J. Reduced catechol-O-methyltransferase activity in red blood cells of women with primary affective disorder. Science 1970; 170: 1323-24. 9. Weinshilboum RM, Raymond FA. Inheritance of low erythrocyte catechol-Omethyltransferase activity in man. Am J Med Genet 1977; 29: 125-35.
Familial defective apolipoprotein B-100: mild hypercholesterolaemia without atherosclerosis in a homozygous patient SIR,-Familial defective apolipoprotein B-100 (FDB) is a genetic disorder caused by a glutamine for arginine substitution in position 3500 of apolipoprotein (apo) B-100.1 Binding of low-density lipoprotein (LDL) to its receptor diminished. We have identified an individual who is homozygous for this mutation. Our patient is a 54-year-old man. He proved homozygous for apo B (Arg3500 - Gln) by restriction typing and direct sequencing of an in-vitro amplified apo B gene fragment. At presentation, the patient was on a normal diet without lipid-lowering medication. Surprisingly, he had only moderate hypercholesterolaemia. Total cholesterol was 3-31 g/l. Other lipids and apolipoproteins were: triglycerides 0-98 g/l, very-low-density lipoprotein cholesterol 0-13 g/l, intermediate-density-lipoprotein cholesterol 0-11 g/l, LDL cholesterol 2-65 g/l, high-densitylipoprotein cholesterol 0-42 g/l, apo A-I 129 gfl, apo B 2.45 g/l, apo E 35-6 mg/1, lipoprotein (a) 11 mg/1, and apo E phenotype 3/3. 4 weeks later cholesterol was 3-65 g/l, triglycerides were 1-43 g/l, and LDL cholesterol and apo B were 2-92 g/l and 2-56 g/l, respectively. There was no evidence of atherosclerosis or any history of cardiovascular complaints. Compared with homozygous familial hypercholesterolaemia in which LDL receptors are deficientour FDB homozygote had a less elevated plasma cholesterol concentration and normal levels of apo-E-containing lipoproteins. The second finding contrasts with familial hypercholesterolaemia in which apo E is raised. Hence, intact catabolism of apo-E-containing particles could decrease LDL production in FDB and explain the unexpectedly low LDL cholesterol in our patient. Gustav Embden-Centre of Biological Chemistry, Department of Endocrinology and Centre of Internal Medicine, Johann Wolfgang Goethe-University, 6000 Frankfurt am Main 70, Germany 1.
W. MÄRZ C. RUZICKA T. POHL K. H. USADEL W. GROSS
et al. Familial defective apoB-100: a apolipoprotein B that causes hypercholesterolaemia B that causes hypercholesterolaemia. J Lipid Res 1990; 31: 1337-49. 2. Goldstein JL, Brown MS. Familial hypercholesterolaemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic basis of inherited disease, vol I, 6th ed.
Innerarity TL, Mahley RW, Weisgraber KH, mutation of
New York: McGraw Hill, 1989: 1215-50.
Is splenectomy another indication for Haemophilus influenzae type b vaccination? SIR,-Streptococcus pneumoniae may account for around 70% of bacterial infection post-splenectomy and most of the remainder are caused by other encapsulated organisms, such as Haemophilus influenzae and Neisseria meningitidis.1 Many infections occur within 2 years of splenectomy, but the risk is long-term. Even if infection is diagnosed quickly and treated appropriately, mortality is significant. Sepsis post-splenectomy occurs in adults and children, although the risk is greater the younger the patient and the more the underlying condition requiring splenectomy.2 severe Overwhelming sepsis can follow splenectomy by as long as 25 years.3 Advice to minimise this serious complication includes fully informing patients of their predispositionprophylactic penicillin, and administration of pneumococcal vaccine.5 While vaccination will not prevent pneumococcal disease entirely, it is considered worth using.5 A vaccination policy by general practitioners and hospital consultants is recommended. We report overwhelming sepsis by H influenzae type b in a splenectomised patient. A 32-year-old woman was referred via the accident and emergency department with a 24 h history of feeling unwell, including influenza-like symptoms. Since admission she had had a severe frontal headache which had worsened throughout the day. Earlier she had collapsed with possible loss of consciousness for a few seconds, and the headache had become worse since then. She felt nauseous, was photophobic, complained of neckache, had no weakness of arms or legs, and had not been incontinent. She had had a splenectomy for hereditary spherocytosis. She was in pain and temperature was 38 °C. She had some meningism. Meningitis or sub-arachnoid haemorrhage was diagnosed. Investigations showed white cells 12-5 x 106/l (98% neutrophils), platelets 210 x 106/l, and haemoglobin 10-6 g/dl. Computed tomography was normal and lumbar puncture findings were unremarkable. Blood cultures were positive for H influenzae type b. Because there were two children in her household, one of them aged 3 years, rifampicin prophylaxis was given to all family members and both children were vaccinated. The patient was treated with chloramphenicol and recovered. Should there be a policy for use of pneumococcal vaccine in splenectomised patients that should be extended to include administration of H influenzae type b vaccine? Indeed, now there is a meningococcal vaccine against the a and c strains, should splenectomised patients routinely be given all three? We thank Dr John
Utting for allowing us to report this case.
Public Health Laboratory, Chelmsford, Essex CM2 0YX, UK
LOUISE TEARE
Department of Medicine, Broomfield Hospital, Chelmsford
SHELAGH O’RIORDAN
IA, Dos Anjos R. Continued need for pneumococcal prophylaxis after splenectumy. Arch Dis Child 1990; 65: 1268-69. 2. Dickerman JD. Splenectomy and sepsis: a warning. Pediatrics 1979; 63: 938-41. 3. Grinblat J, Gilboa Y. Overwhelming pneumococcal sepsis 25 years after splenectomy. Am J Med Sci 1975; 270: 523. 4. White KS, Covington D, Churchill P, Maxwell JG, Norman KS, Clancy TV. Patient awareness of health precautions after splenectomy. Am J Infect Control 1991; 19: 1. Murdoch
36-41. 5.
Anonymous. When to use the new pneumococcal vaccine. Drug Ther Bull 1990; 28: 31-32.
CORRECTIONS Disinfection of water by sunlight.-In this letter by Ms T. Joyce and p 921), line 3, paragraph 2 should have read: Our experiments show that samples of Coke plastic (PET) transmit 90% of the incident light over the region 400-600 nm whereas Coke glass samples transmit 80%, a difference of 10%.
colleagues (Oct 10,
Fatal myocardial infarction and use of psychotropic drugs in young In this article by Dr M. Thorogood and her colleagues (Oct 31, p 1067), the second line of the summary should read: "fatal myocardial infarction". On p 1068 para 1, line 9, the last word should be "equally". women.
syndrome group. Assay of COMT activity in patients with VCF syndrome who have a psychiatric disorder would test our
hypothesis. Division of Medical and Molecular Genetics, Prince Philip Research Laboratory,
Guy’s Hospital Tower,
IAN DUNHAM
London
JOHN COLLINS
Department of Biochemistry and Molecular Genetics, St Mary’s Hospital Medical School, London W2 1 PG, UK
ROY WADEY PETER SCAMBLER
1. Scambler PJ, Kelly D, Lindsay E, et al. Velo-cardio-facial syndrome associated with chromosome 22 deletions which encompass the DiGeorge syndrome locus. Lancet 1992; 339: 1138-39. 2. Shprintzen RJ, Golberg R, Golding-Kushner KJ, Marion R. Late-onset psychosis in the velo-cardio-facial syndrome. Am J Med Genet 992; 42: 141-42. 3. Winqvist R, Lundstrom K, Salminen M, Laatikainen M, Ulmanen I. The human
catechol-O-methyltransferase (COMT) gene maps to band q11·2 of chromosome 22 and shows a frequent RFLP with BglI, Cytogenet Cell Genet 1992; 59: 253-57. 4. Grossman MH, Emanuel BS, Budarf ML. Chromosomal mapping of the human catechol-O-methyltransferase gene to 22q11·1-q11·2. Genomics 1992; 12: 822-25. 5. Kaplan GP, Hartman BK, Creveling CR. Localisation of 4 catechol-Omethyltransferase in the leptomeninges, choroid plexus and ciliary epithelium: implications for the separation of central and peripheral catechols. Brain Res 1981; 204: 353-60. 6. Barnea ER, Maclusky NJ, Dechemey AH, Naftolin F. Catechol-O-methyltransferase activity in the human term placenta. Am J Perinatol 1988; 5: 121-27. 7. Reilly DK, Rivera-Calimlim L, Van Dyke D. Catechol-O-methyltransferase activity: a determinant of levodopa response. Clin Pharmacol Ther 1980; 28: 278-86. 8. Cohn CK, Dunner DL, Axelrod J. Reduced catechol-O-methyltransferase activity in red blood cells of women with primary affective disorder. Science 1970; 170: 1323-24. 9. Weinshilboum RM, Raymond FA. Inheritance of low erythrocyte catechol-Omethyltransferase activity in man. Am J Med Genet 1977; 29: 125-35.
Familial defective apolipoprotein B-100: mild hypercholesterolaemia without atherosclerosis in a homozygous patient SIR,-Familial defective apolipoprotein B-100 (FDB) is a genetic disorder caused by a glutamine for arginine substitution in position 3500 of apolipoprotein (apo) B-100.1 Binding of low-density lipoprotein (LDL) to its receptor diminished. We have identified an individual who is homozygous for this mutation. Our patient is a 54-year-old man. He proved homozygous for apo B (Arg3500 - Gln) by restriction typing and direct sequencing of an in-vitro amplified apo B gene fragment. At presentation, the patient was on a normal diet without lipid-lowering medication. Surprisingly, he had only moderate hypercholesterolaemia. Total cholesterol was 3-31 g/l. Other lipids and apolipoproteins were: triglycerides 0-98 g/l, very-low-density lipoprotein cholesterol 0-13 g/l, intermediate-density-lipoprotein cholesterol 0-11 g/l, LDL cholesterol 2-65 g/l, high-densitylipoprotein cholesterol 0-42 g/l, apo A-I 129 gfl, apo B 2.45 g/l, apo E 35-6 mg/1, lipoprotein (a) 11 mg/1, and apo E phenotype 3/3. 4 weeks later cholesterol was 3-65 g/l, triglycerides were 1-43 g/l, and LDL cholesterol and apo B were 2-92 g/l and 2-56 g/l, respectively. There was no evidence of atherosclerosis or any history of cardiovascular complaints. Compared with homozygous familial hypercholesterolaemia in which LDL receptors are deficientour FDB homozygote had a less elevated plasma cholesterol concentration and normal levels of apo-E-containing lipoproteins. The second finding contrasts with familial hypercholesterolaemia in which apo E is raised. Hence, intact catabolism of apo-E-containing particles could decrease LDL production in FDB and explain the unexpectedly low LDL cholesterol in our patient. Gustav Embden-Centre of Biological Chemistry, Department of Endocrinology and Centre of Internal Medicine, Johann Wolfgang Goethe-University, 6000 Frankfurt am Main 70, Germany 1.
W. MÄRZ C. RUZICKA T. POHL K. H. USADEL W. GROSS
et al. Familial defective apoB-100: a apolipoprotein B that causes hypercholesterolaemia B that causes hypercholesterolaemia. J Lipid Res 1990; 31: 1337-49. 2. Goldstein JL, Brown MS. Familial hypercholesterolaemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic basis of inherited disease, vol I, 6th ed.
Innerarity TL, Mahley RW, Weisgraber KH, mutation of
New York: McGraw Hill, 1989: 1215-50.
Is splenectomy another indication for Haemophilus influenzae type b vaccination? SIR,-Streptococcus pneumoniae may account for around 70% of bacterial infection post-splenectomy and most of the remainder are caused by other encapsulated organisms, such as Haemophilus influenzae and Neisseria meningitidis.1 Many infections occur within 2 years of splenectomy, but the risk is long-term. Even if infection is diagnosed quickly and treated appropriately, mortality is significant. Sepsis post-splenectomy occurs in adults and children, although the risk is greater the younger the patient and the more the underlying condition requiring splenectomy.2 severe Overwhelming sepsis can follow splenectomy by as long as 25 years.3 Advice to minimise this serious complication includes fully informing patients of their predispositionprophylactic penicillin, and administration of pneumococcal vaccine.5 While vaccination will not prevent pneumococcal disease entirely, it is considered worth using.5 A vaccination policy by general practitioners and hospital consultants is recommended. We report overwhelming sepsis by H influenzae type b in a splenectomised patient. A 32-year-old woman was referred via the accident and emergency department with a 24 h history of feeling unwell, including influenza-like symptoms. Since admission she had had a severe frontal headache which had worsened throughout the day. Earlier she had collapsed with possible loss of consciousness for a few seconds, and the headache had become worse since then. She felt nauseous, was photophobic, complained of neckache, had no weakness of arms or legs, and had not been incontinent. She had had a splenectomy for hereditary spherocytosis. She was in pain and temperature was 38 °C. She had some meningism. Meningitis or sub-arachnoid haemorrhage was diagnosed. Investigations showed white cells 12-5 x 106/l (98% neutrophils), platelets 210 x 106/l, and haemoglobin 10-6 g/dl. Computed tomography was normal and lumbar puncture findings were unremarkable. Blood cultures were positive for H influenzae type b. Because there were two children in her household, one of them aged 3 years, rifampicin prophylaxis was given to all family members and both children were vaccinated. The patient was treated with chloramphenicol and recovered. Should there be a policy for use of pneumococcal vaccine in splenectomised patients that should be extended to include administration of H influenzae type b vaccine? Indeed, now there is a meningococcal vaccine against the a and c strains, should splenectomised patients routinely be given all three? We thank Dr John
Utting for allowing us to report this case.
Public Health Laboratory, Chelmsford, Essex CM2 0YX, UK
LOUISE TEARE
Department of Medicine, Broomfield Hospital, Chelmsford
SHELAGH O’RIORDAN
IA, Dos Anjos R. Continued need for pneumococcal prophylaxis after splenectumy. Arch Dis Child 1990; 65: 1268-69. 2. Dickerman JD. Splenectomy and sepsis: a warning. Pediatrics 1979; 63: 938-41. 3. Grinblat J, Gilboa Y. Overwhelming pneumococcal sepsis 25 years after splenectomy. Am J Med Sci 1975; 270: 523. 4. White KS, Covington D, Churchill P, Maxwell JG, Norman KS, Clancy TV. Patient awareness of health precautions after splenectomy. Am J Infect Control 1991; 19: 1. Murdoch
36-41. 5.
Anonymous. When to use the new pneumococcal vaccine. Drug Ther Bull 1990; 28: 31-32.
CORRECTIONS Disinfection of water by sunlight.-In this letter by Ms T. Joyce and p 921), line 3, paragraph 2 should have read: Our experiments show that samples of Coke plastic (PET) transmit 90% of the incident light over the region 400-600 nm whereas Coke glass samples transmit 80%, a difference of 10%.
colleagues (Oct 10,
Fatal myocardial infarction and use of psychotropic drugs in young In this article by Dr M. Thorogood and her colleagues (Oct 31, p 1067), the second line of the summary should read: "fatal myocardial infarction". On p 1068 para 1, line 9, the last word should be "equally". women.
