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BLASTS IN ATAXIA-TELANGIECTASIA
1279 The patient was a dwarf with a short trunk, characteristic deformities of the hip, pigeon breast, short neck, and platyspondylia with tongue-like vertebrar; many of the symptoms of Hurler’s syndrome were present-i.e., retardation of motor and mental development, corneal opacities, deafness, moderate hepatosplenomegaly, and metacromatic granules in
4-year-old sister.
the leucocytes. We have repeatedly examined the urine of this patient for the presence of mucopolysaccharides. We found hypermucopolysacchariduria with increased amount of chondroitinsulphate B (by chemical, electrophoretic, and infrared spectroscopic investigations). Epidermal cells and dermal fibrocytes from a biopsy specimen showed clear cytoplasm and small nuclei: these cells contain abundant stored substance producing a clear swollen appearance (see accompanying figure). Histochemically, negative reaction with alcian-yellow stains and metachromasia at pH 4-5 showed this to consist of chondroitinsulphate B.2 Our patient therefore had an increased intracellular content of chondroitinsulphate B-this mucopolysaccharide is normally found in the skin. It would be of interest to know whether keratosulphate, which is not usually found in the skin of normal subjects, accumulates in the skin of patients with Morquio’s disease with hyper-
keratosulphaturia. Finally Maroteaux and Lamy’s patients can be differentiated from ours by their normal intellectual development and more abnormality. Separation of Morquio’s syndrome into at least two groups is mandatory for clinical understanding and biochemical counselling. severe osseous
P. DURAND C. BORRONE G. DELLA CELLA.
globulin A in his plasma, also showed inhibited blastic transformation and tritium-labelling to almost the same degree observed in case 1 (see table). These results suggest that lack of immunoglobulin A is not necessarily related to blastic transformation of lymphocytes in patients with A.T., since this is impaired whether or not they have sufficient immunoglobulin A. Laboratory of Immunopathology, Department of Pædiatrics, Faculty of Medicine, University of Tokyo, Japan.
TROPHONEUROTIC BLISTERS IN HEMIPLEGICS SIR,-I was interested in the article by Dr. Judge and Dr. Nisbet (April 15, p. 811). I have seen lesions, similar to those they describe, on the ankles of a 45-year-old woman with well-documented multiple sclerosis. At the time they appeared the patient, who had been in the hospital for two weeks, was unable to walk and had a neurogenic bladder. However, she did not have decubiti or other skin lesions. Both legs were affected; each had two blisters, not on pressure-points, which were tense, and up to 5 cm. in diameter. About 15 ml. of thick clear yellow sterile fluid was aspirated from each blister. Drug reaction, burn, or trauma were felt to be unlikely causes, since the patient had been under observation. She had not received barbiturates. This patient’s blisters healed stowly. They did not bear a poor prognosis for her, as suggested in Dr. Chatterjee’s letter
(April 29,
p. 954). Kings County Hospital—State University Medical Center, New York.
BLASTS IN ATAXIA-TELANGIECTASIA et al.3 followed by other workers 4 have reported decreased blastic transformation of lymphocytes cultured with phytohaemagglutinin (P.H.A.) in 10 of 11 patients with ataxia-telangiectasia (A.T.). We report here our findings in 2 further patients with A.T. Peripheral-lymphocytes were cultured with P.H.A. for 72 hours by a modified Moorhead’s method. An hour before
HIROSHI HAYAKAWA NOBORU KOBAYASHI.
SIR,-Leikin
MICHAEL A. KUTELL.
A SATELLITED HUMAN Y CHROMOSOME
SiR,-It is generally agreed that the human Y chromosome has no satellites,’ and aberrant satellite material on the Y chromosome has not yet been reported. An unusual Y was found recently in whole-blood microcultures from a 25-year-old male Down’s syndrome patient. Photomicrographs of 100 mitotic cells of the patient were analysed and all showed a
BLASTIC TRANSFORMATION AND TRITIUM-LABELLING OF MONONUCLEAR CELLS IN 2 PATIENTS WITH A.T. AND 3 HEALTHY CONTROLS
Portions of metaphases of propositus showing: (A) size comparison between satellited Y chromosome (arrowed) and autosomes; (B) satellite association between Y chromosome and a group-D autosome.
harvesting
1 cultures and
flC per ml. 3H-thymidine was added to the autoradiographs were made. Blastoid cells and
tritium-labelled cells were counted in 1000 mononuclear cells. Case 1, an eight-year-old boy, who had no immunoglobulin A in his plasma, showed impaired blastic transformation and decreased tritium-labelling of cells, but counts were variable in repeated examinations (see accompanying table). Case .2, a fourteen-year-old boy, who had typical signs and symptoms of A.T. with 394 mg. per 100 ml. of immuno2. 3. 4.
Rampini, E., Crovato, F., Della Cella, G., Borrone, C., Durand, P. ibid. Leikin, S. L., Bazelon, M., Park, K. H. J. Pediat. 1966, 68, 477. Oppenheim, J. J., Barlow, M., Waldmann, T. A., Block, J. B. Br. med. J. 1966, ii, 330. Schuler, D., Gács, G., Schöngut, L., Cserháti, E. Lancet, 1966, ii, 753.
trisomic chromosome 21 and a Y chromosome, the size of a group-F (19-20) autosome, with achromatic filaments terminating in euchromatic small knobs attached to the end of the long arms (figure A). These structures could not be differentiated morphologically from satellites of group D or G autosomes. Furthermore, satellite association with an acrocentric autosome (figure B) was observed at a frequency of 21%, and at frequencies of 20% and 14% respectively for individual chromosomes of group D and G. A similar Y 1.
Brink, J. M., Los, P. L., Nienhaus, A. J. Genetica, 1962, 33, 45. Patau, K. Human Chromosome Methodology; p. 155. New York,
van
1965.
4-year-old sister.
the leucocytes. We have repeatedly examined the urine of this patient for the presence of mucopolysaccharides. We found hypermucopolysacchariduria with increased amount of chondroitinsulphate B (by chemical, electrophoretic, and infrared spectroscopic investigations). Epidermal cells and dermal fibrocytes from a biopsy specimen showed clear cytoplasm and small nuclei: these cells contain abundant stored substance producing a clear swollen appearance (see accompanying figure). Histochemically, negative reaction with alcian-yellow stains and metachromasia at pH 4-5 showed this to consist of chondroitinsulphate B.2 Our patient therefore had an increased intracellular content of chondroitinsulphate B-this mucopolysaccharide is normally found in the skin. It would be of interest to know whether keratosulphate, which is not usually found in the skin of normal subjects, accumulates in the skin of patients with Morquio’s disease with hyper-
keratosulphaturia. Finally Maroteaux and Lamy’s patients can be differentiated from ours by their normal intellectual development and more abnormality. Separation of Morquio’s syndrome into at least two groups is mandatory for clinical understanding and biochemical counselling. severe osseous
P. DURAND C. BORRONE G. DELLA CELLA.
globulin A in his plasma, also showed inhibited blastic transformation and tritium-labelling to almost the same degree observed in case 1 (see table). These results suggest that lack of immunoglobulin A is not necessarily related to blastic transformation of lymphocytes in patients with A.T., since this is impaired whether or not they have sufficient immunoglobulin A. Laboratory of Immunopathology, Department of Pædiatrics, Faculty of Medicine, University of Tokyo, Japan.
TROPHONEUROTIC BLISTERS IN HEMIPLEGICS SIR,-I was interested in the article by Dr. Judge and Dr. Nisbet (April 15, p. 811). I have seen lesions, similar to those they describe, on the ankles of a 45-year-old woman with well-documented multiple sclerosis. At the time they appeared the patient, who had been in the hospital for two weeks, was unable to walk and had a neurogenic bladder. However, she did not have decubiti or other skin lesions. Both legs were affected; each had two blisters, not on pressure-points, which were tense, and up to 5 cm. in diameter. About 15 ml. of thick clear yellow sterile fluid was aspirated from each blister. Drug reaction, burn, or trauma were felt to be unlikely causes, since the patient had been under observation. She had not received barbiturates. This patient’s blisters healed stowly. They did not bear a poor prognosis for her, as suggested in Dr. Chatterjee’s letter
(April 29,
p. 954). Kings County Hospital—State University Medical Center, New York.
BLASTS IN ATAXIA-TELANGIECTASIA et al.3 followed by other workers 4 have reported decreased blastic transformation of lymphocytes cultured with phytohaemagglutinin (P.H.A.) in 10 of 11 patients with ataxia-telangiectasia (A.T.). We report here our findings in 2 further patients with A.T. Peripheral-lymphocytes were cultured with P.H.A. for 72 hours by a modified Moorhead’s method. An hour before
HIROSHI HAYAKAWA NOBORU KOBAYASHI.
SIR,-Leikin
MICHAEL A. KUTELL.
A SATELLITED HUMAN Y CHROMOSOME
SiR,-It is generally agreed that the human Y chromosome has no satellites,’ and aberrant satellite material on the Y chromosome has not yet been reported. An unusual Y was found recently in whole-blood microcultures from a 25-year-old male Down’s syndrome patient. Photomicrographs of 100 mitotic cells of the patient were analysed and all showed a
BLASTIC TRANSFORMATION AND TRITIUM-LABELLING OF MONONUCLEAR CELLS IN 2 PATIENTS WITH A.T. AND 3 HEALTHY CONTROLS
Portions of metaphases of propositus showing: (A) size comparison between satellited Y chromosome (arrowed) and autosomes; (B) satellite association between Y chromosome and a group-D autosome.
harvesting
1 cultures and
flC per ml. 3H-thymidine was added to the autoradiographs were made. Blastoid cells and
tritium-labelled cells were counted in 1000 mononuclear cells. Case 1, an eight-year-old boy, who had no immunoglobulin A in his plasma, showed impaired blastic transformation and decreased tritium-labelling of cells, but counts were variable in repeated examinations (see accompanying table). Case .2, a fourteen-year-old boy, who had typical signs and symptoms of A.T. with 394 mg. per 100 ml. of immuno2. 3. 4.
Rampini, E., Crovato, F., Della Cella, G., Borrone, C., Durand, P. ibid. Leikin, S. L., Bazelon, M., Park, K. H. J. Pediat. 1966, 68, 477. Oppenheim, J. J., Barlow, M., Waldmann, T. A., Block, J. B. Br. med. J. 1966, ii, 330. Schuler, D., Gács, G., Schöngut, L., Cserháti, E. Lancet, 1966, ii, 753.
trisomic chromosome 21 and a Y chromosome, the size of a group-F (19-20) autosome, with achromatic filaments terminating in euchromatic small knobs attached to the end of the long arms (figure A). These structures could not be differentiated morphologically from satellites of group D or G autosomes. Furthermore, satellite association with an acrocentric autosome (figure B) was observed at a frequency of 21%, and at frequencies of 20% and 14% respectively for individual chromosomes of group D and G. A similar Y 1.
Brink, J. M., Los, P. L., Nienhaus, A. J. Genetica, 1962, 33, 45. Patau, K. Human Chromosome Methodology; p. 155. New York,
van
1965.