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Screening for abnormalities of the Y chromosome
I 58
Letters to the Editor
The Journal of Pediatrics January 1972
journals. Certainly we do not need more medical publications--rather we need fewer and better ones. It is difficult to fault Dr. Greenwald's analysis. W', E, N .
Speculation on cause of deficiency of Hageman factor To the Editor: The recent report by Honig and Lindley (J. PZDIATm 78: 633, 1971 ) was most interesting to us. However, we would suggest an alternative explanation for an apparently specific deficiency of Hageman factor in some patients with the nephrotic syndrome. Recent workers have recognized that in many cases the nephrotic syndrome is associated with an inflammatory process, with or without the deposition of antibody-antigen complexes in the glomerular tuft. Ratnoff1 and associates have described a key role for Hageman factor in mediating the inflammatory response, as well as having a potential for independently activating such crucial systems as the complement and kinin systems. We note that among Honig and Lindley's patients the only one with a clearly noninflammatory etiology for proteinuria, the patient with Lowe's syndrome, was the only one whose level was well within normal values. We raise the possibility that some of the patients reported may have diminished levels of Hageman factor, not only on the basis of urinary loss but also as a result of immunologic or nonspecific activation of the Hageman factor with subsequent triggering of inflammatory systems in the glomerulus and elsewhere. Improvement of the level of Hageman factor with therapy treatment of the renal disease may then represent amelioration of the underlying disease which had been leading to consumption of the factor.
Screening for abnormalities of the Y chromosome To the Editor: Since acceptance of our paper, "Screening of newborn infants for abnormalities of the Y chromosome," for publication in the JOURNAL we have detected our first newborn infant with a 47,XYY karyotype. The infant was detected after screening 1,300 males. This finding reinforces our previous impression regarding the value of the Wharton jelly cell technique in the detection of Y chromosomal abnormalities in the newborn (Fig. 1).
Arnold Greensher, M.D. Robert Gersh David Peakman, A.I.M.L.T. Arthur Robinson, M.D. Departments o[ Biophysics and Genetics, and Pediatrics University o[ Colorado Medical Center Denver, Colo.
Paul Edelson, M.D. Mark Ballow, M.D. Department o[ Pediatrics Yale University School o[ Medicine New Haven, Conn. REFERENCE
1. Ratnoff, O. D.: Some relationships among hemostasis, fibrinolytic phenomena, immunity and the inflammatory response, Adv. Immun. 10: 145, 1969.
Fig. 1. Wharton jelly cell containing 2 fluorescent Y bodies. (Arrows.)
Letters to the Editor
The Journal of Pediatrics January 1972
journals. Certainly we do not need more medical publications--rather we need fewer and better ones. It is difficult to fault Dr. Greenwald's analysis. W', E, N .
Speculation on cause of deficiency of Hageman factor To the Editor: The recent report by Honig and Lindley (J. PZDIATm 78: 633, 1971 ) was most interesting to us. However, we would suggest an alternative explanation for an apparently specific deficiency of Hageman factor in some patients with the nephrotic syndrome. Recent workers have recognized that in many cases the nephrotic syndrome is associated with an inflammatory process, with or without the deposition of antibody-antigen complexes in the glomerular tuft. Ratnoff1 and associates have described a key role for Hageman factor in mediating the inflammatory response, as well as having a potential for independently activating such crucial systems as the complement and kinin systems. We note that among Honig and Lindley's patients the only one with a clearly noninflammatory etiology for proteinuria, the patient with Lowe's syndrome, was the only one whose level was well within normal values. We raise the possibility that some of the patients reported may have diminished levels of Hageman factor, not only on the basis of urinary loss but also as a result of immunologic or nonspecific activation of the Hageman factor with subsequent triggering of inflammatory systems in the glomerulus and elsewhere. Improvement of the level of Hageman factor with therapy treatment of the renal disease may then represent amelioration of the underlying disease which had been leading to consumption of the factor.
Screening for abnormalities of the Y chromosome To the Editor: Since acceptance of our paper, "Screening of newborn infants for abnormalities of the Y chromosome," for publication in the JOURNAL we have detected our first newborn infant with a 47,XYY karyotype. The infant was detected after screening 1,300 males. This finding reinforces our previous impression regarding the value of the Wharton jelly cell technique in the detection of Y chromosomal abnormalities in the newborn (Fig. 1).
Arnold Greensher, M.D. Robert Gersh David Peakman, A.I.M.L.T. Arthur Robinson, M.D. Departments o[ Biophysics and Genetics, and Pediatrics University o[ Colorado Medical Center Denver, Colo.
Paul Edelson, M.D. Mark Ballow, M.D. Department o[ Pediatrics Yale University School o[ Medicine New Haven, Conn. REFERENCE
1. Ratnoff, O. D.: Some relationships among hemostasis, fibrinolytic phenomena, immunity and the inflammatory response, Adv. Immun. 10: 145, 1969.
Fig. 1. Wharton jelly cell containing 2 fluorescent Y bodies. (Arrows.)