Development of a newborn screening tool based on bivariate normal limits: using psychosine and galactocerebrosidase determination on dried blood spots to predict Krabbe disease
被引:11
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作者:
Langan, Thomas J.
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机构:
SUNY Bufffalo, Sch Med & Biomed Sci, Dept Neurol, Buffalo, NY 14260 USASUNY Bufffalo, Sch Med & Biomed Sci, Dept Neurol, Buffalo, NY 14260 USA
Langan, Thomas J.
[1
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Orsini, Joseph J.
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机构:
New York State Dept Hlth, Newborn Screening Program, Wadsworth Ctr, Albany, NY USASUNY Bufffalo, Sch Med & Biomed Sci, Dept Neurol, Buffalo, NY 14260 USA
Orsini, Joseph J.
[2
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Jalal, Kabir
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机构:
SUNY Buffalo, Sch Publ Hlth & Hlth Profess, Populat Hlth Observ, Dept Biostat, Buffalo, NY USASUNY Bufffalo, Sch Med & Biomed Sci, Dept Neurol, Buffalo, NY 14260 USA
Jalal, Kabir
[3
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Barczykowski, Amy L.
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SUNY Buffalo, Sch Publ Hlth & Hlth Profess, Populat Hlth Observ, Dept Biostat, Buffalo, NY USASUNY Bufffalo, Sch Med & Biomed Sci, Dept Neurol, Buffalo, NY 14260 USA
Barczykowski, Amy L.
[3
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Escolar, Maria L.
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机构:
UPMC, Childrens Hosp Pittsburgh, Program Study Neurodev Rare Disorders, Pittsburgh, PA USASUNY Bufffalo, Sch Med & Biomed Sci, Dept Neurol, Buffalo, NY 14260 USA
Escolar, Maria L.
[4
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Poe, Michele D.
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机构:
UPMC, Childrens Hosp Pittsburgh, Program Study Neurodev Rare Disorders, Pittsburgh, PA USASUNY Bufffalo, Sch Med & Biomed Sci, Dept Neurol, Buffalo, NY 14260 USA
Poe, Michele D.
[4
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Biski, Chad K.
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机构:
New York State Dept Hlth, Newborn Screening Program, Wadsworth Ctr, Albany, NY USASUNY Bufffalo, Sch Med & Biomed Sci, Dept Neurol, Buffalo, NY 14260 USA
Biski, Chad K.
[2
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Carter, Randy L.
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机构:
SUNY Buffalo, Sch Publ Hlth & Hlth Profess, Populat Hlth Observ, Dept Biostat, Buffalo, NY USASUNY Bufffalo, Sch Med & Biomed Sci, Dept Neurol, Buffalo, NY 14260 USA
Carter, Randy L.
[3
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机构:
[1] SUNY Bufffalo, Sch Med & Biomed Sci, Dept Neurol, Buffalo, NY 14260 USA
[2] New York State Dept Hlth, Newborn Screening Program, Wadsworth Ctr, Albany, NY USA
[3] SUNY Buffalo, Sch Publ Hlth & Hlth Profess, Populat Hlth Observ, Dept Biostat, Buffalo, NY USA
[4] UPMC, Childrens Hosp Pittsburgh, Program Study Neurodev Rare Disorders, Pittsburgh, PA USA
Purpose: Newborn screening for Krabbe disease (KD) originated in New York State in 2006 but has proven to have a high false positive rate and low positive predictive value. To improve accuracy of presymptomatic prediction, we propose a screening tool based on two biomarkers, psychosine and galactocerebrosidase enzyme activity (GalC). Methods: We developed the tool using measures from dried blood spots of 166 normal newborns and tested it on dried blood spot measures from 15 newborns who later developed KD, 8 newborns identified as "high risk" by the New York screening protocol but were disease-free at follow-up, and 3 symptomatic children with onset before 4 years of age. The tool was developed from the (1-10(-6 ))100% prediction region of the natural logarithms of psychosine and GalC measures, assuming bivariate normality, and their univariate normal limits. Results: Krabbe disease was predicted correctly for every patient who developed symptoms in infancy or early childhood. None of the high-risk patients were incorrectly identified as having early KD. Conclusion: Bivariate analysis of psychosine and GalC in newborn blood spots can accurately predict early Krabbe symptoms, control false positive rates, and permit presymptomatic treatment.
机构:
Kumamoto Univ, Grad Sch Med Sci, Dept Pediat, Kumamoto, Japan
Kumamoto Univ Hosp, Dept Pediat, Kumamoto, JapanKumamoto Univ, Grad Sch Med Sci, Dept Pediat, Kumamoto, Japan
Noda, Yusuke
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Kido, Jun
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机构:
Sawada, Takaaki
Tanaka, Kenichi
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机构:
Kumamoto Univ Hosp, Dept Pediat, Kumamoto, JapanKumamoto Univ, Grad Sch Med Sci, Dept Pediat, Kumamoto, Japan
Tanaka, Kenichi
Kumeda, Kousuke
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机构:
KM Biol Co Ltd, Kumamoto, JapanKumamoto Univ, Grad Sch Med Sci, Dept Pediat, Kumamoto, Japan
Kumeda, Kousuke
Yoshida, Shinichiro
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机构:
KM Biol Co Ltd, Kumamoto, JapanKumamoto Univ, Grad Sch Med Sci, Dept Pediat, Kumamoto, Japan
Yoshida, Shinichiro
Sugawara, Keishin
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机构:
Kumamoto Univ, Fac Life Sci, Dept Pediat, 1-1-1 Honjo,Chuo Ku, Kumamoto, Kumamoto 8608556, JapanKumamoto Univ, Grad Sch Med Sci, Dept Pediat, Kumamoto, Japan
Sugawara, Keishin
Nakamura, Kimitoshi
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Kumamoto Univ Hosp, Dept Pediat, Kumamoto, Japan
Kumamoto Univ, Fac Life Sci, Dept Pediat, 1-1-1 Honjo,Chuo Ku, Kumamoto, Kumamoto 8608556, JapanKumamoto Univ, Grad Sch Med Sci, Dept Pediat, Kumamoto, Japan