Publications by authors named "Ana Argudo-Ramirez"

Article Synopsis
  • In 2015, Catalonia began screening newborns for sickle cell disease (SCD) as part of its newborn screening program, introducing key treatments like penicillin and hydroxyurea.
  • A study of nearly 507,000 newborns from 2015 to 2022 found a significant decrease in age at diagnosis and earlier initiation of treatment for those screened.
  • The screened group experienced fewer SCD-related clinical issues, emergency department visits, and hospitalizations, indicating that the screening program has improved overall health outcomes for affected children.
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The gold-standard diagnostic test for peroxisomal disorders (PDs) is plasma concentration analysis of very long-chain fatty acids (VLCFAs). However, this method's time-consuming nature and limitations in cases which present normal VLCFA levels necessitates alternative approaches. The analysis of C26:0-lysophosphatydylcholine (C26:0-LPC) in dried blood spot samples by tandem-mass spectrometry (MS/MS) has successfully been implemented in certain newborn screening programs to diagnose X-linked adrenoleukodystrophy (ALD).

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Article Synopsis
  • The study focuses on improving newborn screening (NBS) by analyzing dried blood spot (DBS) samples for metabolites through tandem mass spectrometry to reduce false positive (FP) results.
  • Researchers measured 46 metabolites in DBS from various groups, including healthy newborns and those with genetic disorders, validating that 31 metabolites exhibited strong analytical performance.
  • The method shows 100% sensitivity and 74-99% specificity for detecting diseases, enhancing NBS efficiency by decreasing FP rates and diagnosis time while accurately identifying specific organic acidurias and metabolic disorders.
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Anti-Kell alloimmunisation is a potentially severe minor blood group type incompatibility, not only as a cause of haemolytic disease of the foetus and newborn, but also due to the destruction of red blood cells (RBC) and mature form in the bone marrow with the subsequent hyporegenerative anaemia. In severe cases and when the foetus shows signs of anaemia, an intrauterine transfusion (IUT) may be necessary. When repeated, this treatment can suppress erythropoiesis and worsen the anaemia.

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Article Synopsis
  • - The laboratory conducted a review of the new-born screening (NBS) process to identify subjective steps that could compromise patient outcomes, focusing particularly on classifying dried blood spots (DBS) and assigning haemoglobin patterns.
  • - Inter-rater studies were implemented using dried blood spots to evaluate the reliability of these subjective activities, utilizing Krippendorff's alpha test for assessment, and addressing inconsistencies in criteria used for classification and reporting.
  • - Results showed initial inadequacy in reliability, which improved after enhanced training and reaching a consensus on classification criteria, demonstrating the importance of inter-rater reliability in maintaining NBS quality.
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Purine nucleoside phosphorylase (PNP) deficiency is a rare inherited disorder, resulting in severe combined immunodeficiency. To date, PNP deficiency has been detected in newborn screening only through the use of liquid chromatography tandem mass spectrometry. We report the first case in which PNP deficiency was detected by TREC analysis.

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Newborn screening (NBS) for severe combined immunodeficiency (SCID) started in Catalonia in January-2017, being the first Spanish and European region to universally include this testing. In Spain, a pilot study with 5000 samples was carried out in Seville in 2014; also, a research project with about 35,000 newborns will be carried out in 2021-2022 in the NBS laboratory of Eastern Andalusia. At present, the inclusion of SCID is being evaluated in Spain.

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Newborn Screening Programs (NSP) in Spain were born in the city of Granada in 1968. Till the 1980s, they were developed around the so-called "National Plan for Preventing Subnormality", covering up to 30% of the Spanish newborns. From 1982, when the health system management was transferred to the different autonomous regions, the NSP began to expand, and the bases to transform them into an organized and multidisciplinary activity, integrated and coordinated from the National Health System were settled.

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Article Synopsis
  • Severe combined immunodeficiency (SCID) is a critical T-cell immunodeficiency that can be detected at birth through T-cell receptor excision circles (TREC) in blood samples, allowing for faster intervention and improved life expectancy.
  • Catalonia became the first region in Spain and Europe to implement universal newborn screening for SCID in January 2017, using the EnLite Neonatal TREC kit for identification.
  • Out of 222,857 newborns screened by June 2020, three were diagnosed with SCID, while others presented various T-cell issues, demonstrating the importance of including SCID in newborn screening programs.
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The Catalonian Newborn Screening Program (CNSP) began in 1969, in Barcelona. It was promoted by Dr. Juan Sabater Tobella and supported by Barcelona Provincial Council and Juan March Foundation.

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Objective: Newborn screening programmes (NBSP) have experienced a qualitative breakthrough due to the implementation of tandem mass spectrometry. However, the tests used give rise to false positives (FP) generating an excessive request for second samples with the consequent anxiety of the families. In order to avoid this problem several programmes have developed second-tier tests (2TT).

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  • * Protocols were modified, leading to a 36% faster arrival of second samples at the laboratory and a complete elimination of second sample requests for cystic fibrosis detection.
  • * The NSP demonstrated strong leadership during the crisis, achieving greater efficiency and successfully consolidating new processes that improved overall program outcomes.
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The Neonatal Screening Program in Catalonia from its inception fifty years ago until today, has enabled the early diagnosis and treatment of more than 2,000 newborns. In the last decade, the Program has undergone various extensions regarding its panel of diseases and has improved its evaluation with the inclusion of quality indicators in all its stages. One of the pending subjects of the screening program has been the improvement of the quality indexes related to the sample's arrival time to the laboratory after their extraction.

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Article Synopsis
  • Severe combined immunodeficiency (SCID) is a serious condition that can be screened at birth using dried blood samples to measure T-cell receptor excision circles (TRECs), which allows for earlier treatment and improves life expectancy.
  • Newborn screening for SCID began in January 2017 in Catalonia, the first region in Spain and Europe to implement universal testing, with data collected from 130,903 newborns screened between January 2017 and December 2018.
  • In the first two years, the retest cutoff for TREC detection was updated, resulting in a significant reduction of false-positive rates and identifying one confirmed SCID case, among other lymphocyte abnormalities in the screened infants.
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Background: The current scenario of newborn screening is changing as DNA studies are being included in the programs of several countries. Severe combined immunodeficiency (SCID) disorders can be detected using quantitative PCR assays to measure T-cell receptor excision circles (TRECs), a byproduct of correct T-cell development. However, in addition to SCID, other T-cell-deficient phenotypes such as 22q11.

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