Butyrylcarnitine Elevation in Newborn Screening: Reducing False Positives and Distinguishing between Two Rare Diseases through the Evaluation of New Ratios
MariaAnna Messina, Alessia Arena, Riccardo Iacobacci, Luisa La Spina, Concetta Meli, Federica Raudino, Martino Ruggieri, Sheng Cai, Linghui Qian, Su Zeng, Xin Su, Willibald Wonisch · 2023
Read Butyrylcarnitine Elevation in Newborn Screening: Reducing False Positives and Distinguishing between Two Rare Diseases through the Evaluation of New Ratios by MariaAnna Messina, Alessia Arena, Riccardo Iacobacci, Luisa La Spina, Concetta Meli, Federica Raudino, Martino Ruggieri, Sheng Cai, Linghui Qian, Su Zeng, Xin Su, Willibald Wonisch (2023) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-10741594.txt.
Description
MariaAnna Messina and a team of co-authors work on a flaw in newborn screening, in a study published in twenty twenty-three. Screening spots babies with rare metabolic diseases early, but it also raises false alarms that stress families and cost money. One marker, called C4, rises in two different rare diseases and in healthy babies too.
The team studied the chemical profiles of one hundred twenty-one newborns whose C4 was high. They found seven new ratios between C4 and other markers. Those ratios split the groups well: false alarms from each true disease, and the two diseases from each other. Cut-off values were set and applied to the screening program. The authors say the ratios should cut false alarms and speed the right diagnosis.
Catalog record
| CREATOR | MariaAnna Messina, Alessia Arena, Riccardo Iacobacci, Luisa La Spina, Concetta Meli, Federica Raudino, Martino Ruggieri, Sheng Cai, Linghui Qian, Su Zeng, Xin Su, Willibald Wonisch |
|---|---|
| YEAR | 2023 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 43 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |