Publications by authors named "Cecilia Queijo"
Blood carnitine and/or acetylcarnitine deficiencies are postulated in the literature as possible causes of higher ammonia levels. The aim of this study was to investigate if the use of valproic acid, the age of the patients, or certain central nervous system pathologies can cause carnitine and/or acetylcarnitine deficiency leading to increased ammonia levels. Three groups of patients were studied: (A) epileptic under phenytoin monotherapy (n = 31); (B) with bipolar disorder under valproic acid treatment (n = 28); (C) elderly (n = 41).
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- A collaborative effort involving 154 laboratories across 49 countries aims to enhance newborn screening quality using a new approach based on tandem mass spectrometry.
- Multivariate pattern recognition software was developed by analyzing a large database of results, allowing for the integration of multiple clinical data points into a single score.
- The evaluation of this approach indicates significant improvements, with tools potentially reducing false-positive diagnoses by over 50% and false-negative cases by 88%, contributing to very low false-positive rates in Minnesota's screening results.
Article Synopsis
- The study aimed to clinically validate cutoff values for newborn screening using tandem mass spectrometry by collaborating globally.
- Researchers analyzed data from about 25-30 million normal newborns and over 10,700 true positive cases to establish clinically significant cutoff ranges.
- As of December 2010, data from 130 sites in 45 countries contributed to defining cutoff ranges for 114 markers, showcasing a high level of international cooperation in screening for rare metabolic disorders.