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A 39-month-old girl was found to have a genetic deficiency of prolidase. This enzyme specifically splits dipeptides with proline or hydroxyproline at the C-terminus. Absence of the enzyme leads to massive urinary excretion of iminodipeptides. Clinical symptoms include some that can be ascribed to collagen defects. Previously we had demonstrated that the(More)
BACKGROUND/OBJECTIVES The Ontario Prenatal Screening Program (OPSP) follows internationally recognized standardized procedures for laboratories and genetics clinics. However, it has been found that some procedures are subject to interpretation, so the current procedures are designed to facilitate a unified approach in the interpretation of literature(More)
CONTEXT Chromogranin A (CgA) is used as a generic tumor marker for neuroendocrine tumors. Proton pump inhibitors (PPI) are known to increase CgA, but it is not clear to what extent, and there is little information on how long PPI need to be discontinued before the effect of PPI has disappeared. Furthermore, is it not known whether this PPI effect is(More)
OBJECTIVE This study aimed to assess the quantitative impact of maternal weight discrepancy on the screen result for Down syndrome when using Integrated Prenatal Screening and First Trimester Combined Screening. METHODS The study population consisted of 78,165 women undergoing prenatal screening in Ontario, Canada, and 158 pregnancies affected with Down(More)
OBJECTIVE The aim of this study was to assess the screening performance for Down syndrome using first trimester combined screening (FTS) and two additional markers, serum placental growth factor (PlGF) and α-fetoprotein (AFP). METHODS This is a retrospective case-control study of 137 pregnancies affected by Down syndrome and 684 individually matched(More)