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- Dried Blood Spot Testing (2)
- Glycogen Storage Disease Type II (2)
- Humans (2)
- Infant, Newborn (2)
- Neonatal Screening (2)
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- Newborn screening (2)
- Pompe disease (2)
- Sensitivity and Specificity (2)
- 1q43q44 deletion (1)
- Algorithms (1)
- Alpha-Glucosidases (1)
- Array comparative genomic hybridization (1)
- Biomarkers (1)
- Chromosome 1 (1)
- Collaborative Laboratory Integrated Reports (1)
- Collaborative laboratory integrated report (1)
- Creatine (1)
- Creatinine (1)
- Cytogenetics (1)
- Dwarfism (1)
- Female (1)
- Growth retardation (1)
- Infant (1)
- Intellectual disability (1)
- Krabbe disease (1)
- Leukodystrophy, Globoid Cell (1)
- Lysosomal Storage Diseases (1)
- Male (1)
- Microcephaly (1)
- Mucopolysaccharidosis I (1)
Articles 1 - 3 of 3
Full-Text Articles in Genetics and Genomics
Precision Newborn Screening For Lysosomal Disorders, Melissa M. Minter Baerg, Stephanie D. Stoway, Jeremy Hart, Lea Mott, Dawn S. Peck, Stephanie L. Nett, Jason S. Eckerman, Jean M. Lacey, Coleman T. Turgeon, Dimitar Gavrilov, Devin Oglesbee, Kimiyo Raymond, Silvia Tortorelli, Dietrich Matern, Lars Mørkrid, Piero Rinaldo
Precision Newborn Screening For Lysosomal Disorders, Melissa M. Minter Baerg, Stephanie D. Stoway, Jeremy Hart, Lea Mott, Dawn S. Peck, Stephanie L. Nett, Jason S. Eckerman, Jean M. Lacey, Coleman T. Turgeon, Dimitar Gavrilov, Devin Oglesbee, Kimiyo Raymond, Silvia Tortorelli, Dietrich Matern, Lars Mørkrid, Piero Rinaldo
Pathology and Laboratory Medicine Faculty Publications
Purpose: The implementation of newborn screening for lysosomal disorders has uncovered overall poor specificity, psychosocial harm experienced by caregivers, and costly follow-up testing of false-positive cases. We report an informatics solution proven to minimize these issues.
Methods: The Kentucky Department for Public Health outsourced testing for mucopolysaccharidosis type I (MPS I) and Pompe disease, conditions recently added to the recommended uniform screening panel, plus Krabbe disease, which was added by legislative mandate. A total of 55,161 specimens were collected from infants born over 1 year starting from February 2016. Testing by tandem mass spectrometry was integrated with multivariate pattern recognition …
Moonlighting Newborn Screening Markers: The Incidental Discovery Of A Second-Tier Test For Pompe Disease, Silvia Tortorelli, Jason S. Eckerman, Joseph J. Orsini, Colleen Stevens, Jeremy Hart, Patricia L. Hall, John J. Alexander, Dimitar Gavrilov, Devin Oglesbee, Kimiyo Raymond, Dietrich Matern, Piero Rinaldo
Moonlighting Newborn Screening Markers: The Incidental Discovery Of A Second-Tier Test For Pompe Disease, Silvia Tortorelli, Jason S. Eckerman, Joseph J. Orsini, Colleen Stevens, Jeremy Hart, Patricia L. Hall, John J. Alexander, Dimitar Gavrilov, Devin Oglesbee, Kimiyo Raymond, Dietrich Matern, Piero Rinaldo
Pathology and Laboratory Medicine Faculty Publications
Purpose: To describe a novel biochemical marker in dried blood spots suitable to improve the specificity of newborn screening for Pompe disease.
Methods: The new marker is a ratio calculated between the creatine/creatinine (Cre/Crn) ratio as the numerator and the activity of acid α-glucosidase (GAA) as the denominator. Using Collaborative Laboratory Integrated Reports (CLIR), the new marker was incorporated in a dual scatter plot that can achieve almost complete segregation between Pompe disease and false-positive cases.
Results: The (Cre/Crn)/GAA ratio was measured in residual dried blood spots of five Pompe cases and was found to be elevated (range 4.41–13.26; 99%ile …
A Patient With Constitutional Ring 1 Chromosome Characterized By Snp Array Cgh, Sheila Saliganan, Joanna Lee, Sainan Wei
A Patient With Constitutional Ring 1 Chromosome Characterized By Snp Array Cgh, Sheila Saliganan, Joanna Lee, Sainan Wei
Pathology and Laboratory Medicine Faculty Publications
We present a male patient with constitutional ring 1 chromosome and subsequent 6 Mb deletion at 1q43q44. The patient displays overlapping clinical features with reported patients with ring 1 chromosome and 1q43q44 microdeletion syndrome. To our knowledge, this is the first patient with ring 1 chromosome characterized by comparative genomic hybridization.