Results 1 to 10 of about 13,071,153 (288)

Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy [PDF]

International Journal of Neonatal Screening, 2019
The increasing availability of treatments and the importance of early intervention have stimulated interest in newborn screening for lysosomal storage diseases.
Alberto B. Burlina, Giulia Polo, Laura Rubert, Daniela Gueraldi, Chiara Cazzorla, Giovanni Duro, Leonardo Salviati, Alessandro P. Burlina   +7 more
doaj   +3 more sources

Quantification of Differential Metabolites in Dried Blood Spots Using Second-Tier Testing for SCADD/IBDD Disorders Based on Large-Scale Newborn Screening in a Chinese Population

Frontiers in Pediatrics, 2021
Background: Although newborn screening (NBS) for metabolic defects using the marker butyl carnitine (C4) combined with the C4-to-acetylcarnitine ratio is adequate, the incorporation of novel parameters may improve differential testing for these disorders
Wei Zhou, Wei Zhou, Heng Cai, Huizhong Li, Zhe Ji, Maosheng Gu   +5 more
doaj   +1 more source

Development and Implementation of a Four-Tier Close-Ended Test to Analyze Students' Misconceptions of Optical Instruments

Tadris: Jurnal Keguruan dan Ilmu Tarbiyah, 2023
The research aims to develop a four-tier test for optical instrument materials. The method used in this study is a 4D design that includes defining, designing, developing, and disseminating. The instrument used consisted of fifteen items in the form of a
Itsna Rona Wahyu Astuti, Achmad Samsudin, Ida Kaniawati, Endi Suhendi, Bayram Çoştu   +4 more
doaj   +1 more source

Newborn Screening for Metachromatic Leukodystrophy in Tuscany: The Paradigm of a Successful Preventive Medicine Program

International Journal of Neonatal Screening
Metachromatic leukodystrophy (MLD) is a rare inherited disorder of lysosomal storage, caused by a deficiency in the arylsulfatase A (ARSA) enzyme, leading to toxic accumulation of sulfatides, which progressively impair motor and cognitive function.
Sabrina Malvagia, Alessandra Bettiol, Margherita Porcaro, Massimo Mura, Silvia Funghini, Daniela Ombrone, Giulia Forni, Emanuela Scolamiero, Filippo Coppi, Roberta Damiano, Cristina Cereda, Simonetta Simonetti, Annalisa Lonetti, Marta Daniotti, Anna Caciotti, Amelia Morrone, Valeria Calbi, Francesca Fumagalli, Alessandro Aiuti, Elena Procopio, Renzo Guerrini, Giancarlo la Marca   +21 more
doaj   +1 more source

Development of Strategies to Decrease False Positive Results in Newborn Screening

International Journal of Neonatal Screening, 2020
The expansion of national newborn screening (NBS) programmes has provided significant benefits in the diagnosis and early treatment of several rare, heritable conditions, preventing adverse health outcomes for most affected infants.
Sabrina Malvagia, Giulia Forni, Daniela Ombrone, Giancarlo la Marca   +3 more
doaj   +1 more source

Longitudinal metabolomics in dried bloodspots yields profiles informing newborn screening for succinic semialdehyde dehydrogenase deficiency

JIMD Reports, 2020
Analyses of 19 amino acids, 38 acylcarnitines, and 3 creatine analogues (https://clir.mayo.edu) were implemented to test the hypothesis that succinic semialdehyde dehydrogenase deficiency (SSADHD) could be identified in dried bloodspots (DBS) using ...
Madalyn Brown, Coleman Turgeon, Piero Rinaldo, Ana Pop, Gajja S. Salomons, Jean‐Baptiste Roullet, K. Michael Gibson   +6 more
doaj   +1 more source

Neonatal screening for isovaleric aciduria: Reducing the increasingly high false‐positive rate in Germany

JIMD Reports, 2023
Newborn screening (NBS) for isovaleric acidemia (IVA) is performed by flow injection tandem mass spectrometry quantifying C5 carnitines (C5). Isovalerylcarnitine, however, is isomeric with pivaloylcarnitine which can be present in blood due to maternal ...
Simona Murko, Asra Dadkhah Aseman, Friederike Reinhardt, Gwendolyn Gramer, Jürgen Günther Okun, Ulrike Mütze, René Santer   +6 more
doaj   +1 more source

Immunoblot Criteria for Diagnosis of Lyme Disease: A Comparison of CDC Criteria to Alternative Interpretive Approaches

Pathogens, 2023
The current Centers for Disease Control and Prevention (CDC) interpretive criteria for serodiagnosis of Lyme disease (LD) involve a two-tiered approach, consisting of a first-tier EIA, IFA, or chemiluminescent assay, followed by confirmation of positive ...
Richard Porwancher, Andrew Levin, Rosalie Trevejo   +2 more
doaj   +1 more source

Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns

Orphanet Journal of Rare Diseases, 2021
Background Alteration of vitamin B12 metabolism can be genetic or acquired, and can result in anemia, failure to thrive, developmental regression and even irreversible neurologic damage. Therefore, early diagnosis and intervention is critical.
Sonia Pajares, Jose Antonio Arranz, Aida Ormazabal, Mireia Del Toro, Ángeles García-Cazorla, Aleix Navarro-Sastre, Rosa María López, Silvia María Meavilla, Mariela Mercedes de los Santos, Camila García-Volpe, Jose Manuel González de Aledo-Castillo, Ana Argudo, Jose Luís Marín, Clara Carnicer, Rafael Artuch, Frederic Tort, Laura Gort, Rosa Fernández, Judit García-Villoria, Antonia Ribes   +19 more
doaj   +1 more source

Testing for stationary of housing prices in China: An examination using efficient unit root tests

Heliyon
Changes in housing prices affect all aspects of production and life, and have always been a hot spot of social concern. This paper uses the sequence panel selection method (SPSM) to study the time series properties of housing prices in 100 cities in ...
Na Bian, Yiguo Chen
doaj   +1 more source