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FATTY-ACID COMPOSITION OF SERUM-LECITHINS IN CYSTIC-FIBROSIS PATIENTS WITHOUT STEATORRHŒA
903
drugs may not be desirable because of pre-existing intracardiac
MATERNAL EFFECT IN CENTRAL NEUROFIBROMATOSIS
conduction detects.
J. K. VOHRA Departments of Cardiology Royal Melbourne Hospital, Victoria 3050, Australia
and
G. D. BURROWS I. MCINTYRE B. DAVIES
Psychiatry,
FATTY-ACID COMPOSITION OF SERUM-LECITHINS IN CYSTIC-FIBROSIS PATIENTS WITHOUT STEATORRHŒA
SIR Di Sant’Agnese’s team’ found that the fatty-acid composition of various plasma-lipid fractions from cysticfibrosis (c.F.) patients without pancreatic insufficiency did not differ significantly from normal; only c.F. patients with pancreatic
insufficiency had significantly abnormal fatty-acid composition. We have investigated the fatty-acid composition of serum-lecithins from four groups of C.F. patients, defined by their pancreatic function evaluated by 72-h quantitative stool fat and determination of the coefficient of fat absorption. All patients were on a normal diet. PERCENTAGE COMPOSITION
(MEAN±S.E.M.) OF
SELECTED FATTY
ACIDS IN SERUM-LECITHINS
SIR,—Miller and Hall’ have found a maternal effect in peripheral neurofibromatosis (von Recklinghausen’s disease), a disorder inherited as an autosomal dominant trait and characterised by tumours of the nerve sheath and by macular hyperpigmentation. Reviewing 62 cases of peripheral neurofibromatosis, they observed significantly higher morbidity among cases born to affected mothers than in those born to affected fathers or to sporadic cases. To address the question of a maternal effect in the central form of neurofibromatosis, the hallmark of which is bilateral acoustic neuroma,2we compared the mean age of onset for 25 cases born to affected mothers with the mean for 13 born to affected fathers. Patients with affected mothers had a mean (±S.E.M.) age of onset of 18.3 ±1-4 years while the mean age of onset in patients with affected fathers was 24.1 +2.2 years (P<0.01, unpaired Student’s t-test). Of the 38 cases more were born to affected mothers than to affected fathers, but this difference was not significant. Sex of the patient did not appear to affect the age of onset. Age of onset is an important indicator for assessing factors that influence a genetically determined disease process. The earlier onset observed with affected mothers implies a maternal effect. This is consistent with the presence of an abnormal circulating factor such as nerve-growth factor, recently implicated in the aetiology of both peripheral and central forms of neurofibromatosis.3-6 Nerve-growth factor is found in high concentrations in amnion and and &bgr;-œstradiol increases production of nerve-growth factor in cultured glial cells.8 Symptoms of acoustic neuroma are precipitated or exacerbated in pregnancy.9 Perhaps high circulating levels of an abnormal nerve-growth factor during pregnancy are responsible for the exacerbations, while the maternal effect may result from such an altered environment acting in concert with the fetal gene for neurofibromatosis.
placenta,’
Neurogenetics Section,
Significance of comparison of group A v. B, C, D: *p<0.01,
Infectious Disease Branch, National Institute of Neurologic and Communicative Disorders and Stroke, National Institutes of Health,
p<0.001.
Bethesda, Maryland 20014, U.S.A.
WILLIAM R. KANTER ROSWELL ELDRIDGE
C18:1, C18:2, C20:3, and C20:4 are oleic, linoleic, w9-eicosatrienoic, and arachidonic acids, respectively. C.F. patients without pancreatic insufficiency and not on pancreatic extract (group A) had significantly higher percentages of linoleic acid than did patients of any other group, and
the values obtained were similar to those obtained with our method for normal individuals. Patients with steatorrhoea had reduced linoleic acid and increased oleic acid and w9-eicosatrienoic acid, (i.e., the abnormal fatty-acid pattern generally reported in c.F. 2-4). Patients with pancreatic insufficiency well corrected by pancreatic extracts had, surprisingly, a lower percentage of linoleic acid than did patients in group A, despite good absorption of this fatty acid. Our results confirm those of Di Sant’Agnese et al. The altered fatty-acid composition of serum-lipid fractions seems to be a secondary consequence of the pancreatic insufficiency commonly associated with c.F. disease and not a direct metabolic defect as some have suggested.5 These data were presented at the 8th European congress on Cystic Fibrosis of the Pancreas, held in June, 1978, at Badgastein, Austria. Centre d’Etudes
et de Recherches sur la Mucoviscidose, Hôpital Renée Sabran, 83406 Hyères, France
1.
C. GALABERT M. FILLIAT J. P. CHAZALETTE
Hubbard, V. S., Dewey Dunn, G., Dr Sant’Agnese, P. A. Lancet, 1977,
ii,
1302. 2. Kuo, P.T., Huang, N. N., Basset, D. R. J. Pediat. 1962, 60, 394. 3. Caren, R., Corbo, L. J. clin. Endocr. 1966, 26, 470. 4. Underwood, B. A., Denning, C. R., Navab, M. Ann. N.Y. Acad. Sci. 1972, 5.
203, 237. Elliot, R B., Robinson, P. G.
Archs Dis. Childh
1975, 50, 76.
PLASMAPHERESIS IN SEVERE ASTHMA
SIR,—DR Muers and Dr Dawkins (July 29, p. 260) ask for details concerning our patient treated by plasma-
some more
pheresis. Very severe continuous dyspnoea prevented measurement of lung function in the months before plasmapheresis began. Before plasmapheresis, the patient took prednisone (30 mg daily for the previous 5 years), 6-8 inhalations of -stimulators per day (salbutamol, fenoterol, terbutaline sulphate), theophylline derivates (6 tablets ’Neo-biphylline’), and sodium cromoglycate (80 mg daily). Without effect: ketotifen, pipoxizine. After the first plasmapheresis series, 5 mg prednisone, 0-1 inhalation, and 80 mg sodium cromoglycate were needed, but after the second series only 60 mg cromoglycate was necessary.
Lung function
tests were
always
done
at
3.00-4.00
P.M.
1. Miller, M., Hall, J. J. Lancet (in the press). 2. Young, D., Eldridge, R., Nager, B., Deland, F., McNew, J. Birth Defects orig. Art. Ser. 1971, 7, no. 4. 3. Schenkein, I., and others New Engl. J Med. 1974, 290,613. 4. Siggers, D. G., Boyer, S. H., Eldridge, R. ibid. 1975, 292, 1134. 5. Fabricant, R. Todaro, G. Unpublished. 6. Fabricant, R., Todaro, G., Eldridge, R. Lancet (in the press). 7. Goldstein, L. D., Reynolds, C. P., Polo, P. Neurochem. Res. 1978, 3, 175. 8. Perez, A., Polo, P. J. R., Hall, K., Livingston, K., Westland, K. Life Sci. 9.
1977, 21, 1535. Allen, J., Eldridge, R., Koerber, T. Am. J. Obstet. Gynec 1974, 119, 516.
drugs may not be desirable because of pre-existing intracardiac
MATERNAL EFFECT IN CENTRAL NEUROFIBROMATOSIS
conduction detects.
J. K. VOHRA Departments of Cardiology Royal Melbourne Hospital, Victoria 3050, Australia
and
G. D. BURROWS I. MCINTYRE B. DAVIES
Psychiatry,
FATTY-ACID COMPOSITION OF SERUM-LECITHINS IN CYSTIC-FIBROSIS PATIENTS WITHOUT STEATORRHŒA
SIR Di Sant’Agnese’s team’ found that the fatty-acid composition of various plasma-lipid fractions from cysticfibrosis (c.F.) patients without pancreatic insufficiency did not differ significantly from normal; only c.F. patients with pancreatic
insufficiency had significantly abnormal fatty-acid composition. We have investigated the fatty-acid composition of serum-lecithins from four groups of C.F. patients, defined by their pancreatic function evaluated by 72-h quantitative stool fat and determination of the coefficient of fat absorption. All patients were on a normal diet. PERCENTAGE COMPOSITION
(MEAN±S.E.M.) OF
SELECTED FATTY
ACIDS IN SERUM-LECITHINS
SIR,—Miller and Hall’ have found a maternal effect in peripheral neurofibromatosis (von Recklinghausen’s disease), a disorder inherited as an autosomal dominant trait and characterised by tumours of the nerve sheath and by macular hyperpigmentation. Reviewing 62 cases of peripheral neurofibromatosis, they observed significantly higher morbidity among cases born to affected mothers than in those born to affected fathers or to sporadic cases. To address the question of a maternal effect in the central form of neurofibromatosis, the hallmark of which is bilateral acoustic neuroma,2we compared the mean age of onset for 25 cases born to affected mothers with the mean for 13 born to affected fathers. Patients with affected mothers had a mean (±S.E.M.) age of onset of 18.3 ±1-4 years while the mean age of onset in patients with affected fathers was 24.1 +2.2 years (P<0.01, unpaired Student’s t-test). Of the 38 cases more were born to affected mothers than to affected fathers, but this difference was not significant. Sex of the patient did not appear to affect the age of onset. Age of onset is an important indicator for assessing factors that influence a genetically determined disease process. The earlier onset observed with affected mothers implies a maternal effect. This is consistent with the presence of an abnormal circulating factor such as nerve-growth factor, recently implicated in the aetiology of both peripheral and central forms of neurofibromatosis.3-6 Nerve-growth factor is found in high concentrations in amnion and and &bgr;-œstradiol increases production of nerve-growth factor in cultured glial cells.8 Symptoms of acoustic neuroma are precipitated or exacerbated in pregnancy.9 Perhaps high circulating levels of an abnormal nerve-growth factor during pregnancy are responsible for the exacerbations, while the maternal effect may result from such an altered environment acting in concert with the fetal gene for neurofibromatosis.
placenta,’
Neurogenetics Section,
Significance of comparison of group A v. B, C, D: *p<0.01,
Infectious Disease Branch, National Institute of Neurologic and Communicative Disorders and Stroke, National Institutes of Health,
p<0.001.
Bethesda, Maryland 20014, U.S.A.
WILLIAM R. KANTER ROSWELL ELDRIDGE
C18:1, C18:2, C20:3, and C20:4 are oleic, linoleic, w9-eicosatrienoic, and arachidonic acids, respectively. C.F. patients without pancreatic insufficiency and not on pancreatic extract (group A) had significantly higher percentages of linoleic acid than did patients of any other group, and
the values obtained were similar to those obtained with our method for normal individuals. Patients with steatorrhoea had reduced linoleic acid and increased oleic acid and w9-eicosatrienoic acid, (i.e., the abnormal fatty-acid pattern generally reported in c.F. 2-4). Patients with pancreatic insufficiency well corrected by pancreatic extracts had, surprisingly, a lower percentage of linoleic acid than did patients in group A, despite good absorption of this fatty acid. Our results confirm those of Di Sant’Agnese et al. The altered fatty-acid composition of serum-lipid fractions seems to be a secondary consequence of the pancreatic insufficiency commonly associated with c.F. disease and not a direct metabolic defect as some have suggested.5 These data were presented at the 8th European congress on Cystic Fibrosis of the Pancreas, held in June, 1978, at Badgastein, Austria. Centre d’Etudes
et de Recherches sur la Mucoviscidose, Hôpital Renée Sabran, 83406 Hyères, France
1.
C. GALABERT M. FILLIAT J. P. CHAZALETTE
Hubbard, V. S., Dewey Dunn, G., Dr Sant’Agnese, P. A. Lancet, 1977,
ii,
1302. 2. Kuo, P.T., Huang, N. N., Basset, D. R. J. Pediat. 1962, 60, 394. 3. Caren, R., Corbo, L. J. clin. Endocr. 1966, 26, 470. 4. Underwood, B. A., Denning, C. R., Navab, M. Ann. N.Y. Acad. Sci. 1972, 5.
203, 237. Elliot, R B., Robinson, P. G.
Archs Dis. Childh
1975, 50, 76.
PLASMAPHERESIS IN SEVERE ASTHMA
SIR,—DR Muers and Dr Dawkins (July 29, p. 260) ask for details concerning our patient treated by plasma-
some more
pheresis. Very severe continuous dyspnoea prevented measurement of lung function in the months before plasmapheresis began. Before plasmapheresis, the patient took prednisone (30 mg daily for the previous 5 years), 6-8 inhalations of -stimulators per day (salbutamol, fenoterol, terbutaline sulphate), theophylline derivates (6 tablets ’Neo-biphylline’), and sodium cromoglycate (80 mg daily). Without effect: ketotifen, pipoxizine. After the first plasmapheresis series, 5 mg prednisone, 0-1 inhalation, and 80 mg sodium cromoglycate were needed, but after the second series only 60 mg cromoglycate was necessary.
Lung function
tests were
always
done
at
3.00-4.00
P.M.
1. Miller, M., Hall, J. J. Lancet (in the press). 2. Young, D., Eldridge, R., Nager, B., Deland, F., McNew, J. Birth Defects orig. Art. Ser. 1971, 7, no. 4. 3. Schenkein, I., and others New Engl. J Med. 1974, 290,613. 4. Siggers, D. G., Boyer, S. H., Eldridge, R. ibid. 1975, 292, 1134. 5. Fabricant, R. Todaro, G. Unpublished. 6. Fabricant, R., Todaro, G., Eldridge, R. Lancet (in the press). 7. Goldstein, L. D., Reynolds, C. P., Polo, P. Neurochem. Res. 1978, 3, 175. 8. Perez, A., Polo, P. J. R., Hall, K., Livingston, K., Westland, K. Life Sci. 9.
1977, 21, 1535. Allen, J., Eldridge, R., Koerber, T. Am. J. Obstet. Gynec 1974, 119, 516.