ARCHIMEDlife News
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Diagnosis and prevalence of Congenital Adrenal Hyperplasia (CAH) in Austrian children screened or not screened for CAH
Prevalence of Congenital Adrenal Hyperplasia (CAH) is not exactly known in Austria, a number of patients with CAH might not be diagnosed, especially males. CAH is in… Read more -
Matrix-assisted laser desorption / ionization for simultaneous quantitation of (acyl-)carnitines and organic acids in dried blood spots
Screening for inborn errors of metabolism using mass spectrometry is part of nationwide newborn screening programs and involves the detection of disease relevant (acyl-)carnitines and… Read more -
Quantification of excess risk for diabetes for those born in times of hunger, in an entire population of a nation, across a century
Based on a unique dataset comprising all 325,000 Austrian patients that were under pharmaceutical treatment for diabetes during 2006 and 2007, we measured the excess… Read more -
Short-incubation mass spectrometry assay for lysosomal storage disorders in newborn and high-risk population screening
The interest in early detection strategies for lysosomal storage disorders (LSDs) in newborns and high-risk population has increased in the last years due to the… Read more -
Small sizes and indolent evolutionary dynamics challenge the potential role of P2RY8-CRLF2-harboring clones as main relapse-driving force in childhood ALL
The P2RY8-CRLF2 fusion defines a particular relapse-prone subset of childhood ALL in AIEOP-BFM 2000 protocols. To investigate whether and to what extent different clone sizes… Read more
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The predictive value of immature granulocyte count and immature myeloid information in the diagnosis of neonatal sepsis
Background: To determine the predictive value of the immature granulocyte count and the immature myeloid information in neonatal early onset sepsis we examined 133 blood samples… Read more