Publications by authors named "Laura Martinez Figueras"
Objectives: The chimeras causing the CAH-X syndrome (SCAH-X) result from recombination between - and their respective pseudogenes (-). The clinical manifestations of this syndrome include congenital adrenal hyperplasia (CAH) and Ehlers-Danlos syndrome (EDS). Since SCAH-X has been recently described, the number of publications available is limited.
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- * Out of the three cases, two were diagnosed before birth, and one shortly after birth, with all tumors located in the abdomen and showing high levels of catecholamines in urine samples.
- * The research highlights the importance of measuring catecholamines for diagnosis, suggesting that single voided urine can be used if 24-hour collections are not feasible.
Article Synopsis
- Tandem mass spectrometry (MS/MS) has been used since 2011 in the Community of Madrid for newborn screening, detecting metabolic disorders from dried blood samples, covering 13 conditions related to amino acids and fatty acids.
- Over 592,000 newborns were screened between 2011 and 2019, resulting in 901 positive cases, with 230 diagnosed with 30 different inborn errors of metabolism, leading to an overall positive predictive value of 25.6%.
- The screening program was successful in identifying 93% of cases in the presymptomatic stage, demonstrating its effectiveness as a public health initiative.