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10.1007/8904_2015_476 http://scihub22266oqcxt.onion/10.1007/8904_2015_476 C4864775!4864775!26453363     free     free     free Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       JIMD+Rep 2016 ; 27 (ä): 101-6 Nephropedia Template TP {{tp|p=26453363|t=2016. The Newborn Screening Paradox: Sensitivity vs Overdiagnosis in VLCAD Deficiency |pdf=|usr=}}{{26453363}} gab.com Text The Newborn Screening Paradox: Sensitivity vs Overdiagnosis in VLCAD Deficiency JO: JIMD Rep http://www.kidney.de/pget.php?&tw=1&pmid=26453363 #FOAvip Objective: To improve the efficacy of newborn screening (NBS) for very long chain acyl-CoA dehydrogenase deficiency (VLCADD).Patients and Methods: Data on all dried blood spots collected by the Dutch NBS from October 2007 to 2010 (742.728) were included. Based solely on the C14:1 levels (cutoff ?0.8 ?mol/L), six newborns with VLCADD had been identified through NBS during this period. The ratio of C14:1 over C2 was calculated. DNA of all blood spots with a C14:1/C2 ratio of ?0.020 was isolated and sequenced. Children homozygous or compound heterozygous for mutations in the ACADVL gene were traced back and invited for detailed clinical, biochemical, and genetic evaluation.Results: Retrospective analysis based on the C14:1/C2 ratio with a cutoff of ?0.020 identified an additional five children with known ACADVL mutations and low enzymatic activity. All were still asymptomatic at the time of diagnosis (age 2?5 years). Increasing the cutoff to ?0.023 resulted in a sensitivity of 93% and a positive predictive value of 37%. The sensitivity of the previously used screening approach (C14:1 ?0.8) was 50%.Conclusion: This study shows that the ratio C14:1/C2 is a more sensitive marker than C14:1 for identifying VLCADD patients in NBS. However, as these patients were all asymptomatic at the time of diagnosis, this suggests that a more sensitive screening approach may also identify individuals who may never develop clinical disease. Long-term follow-up studies are needed to establish the risk of these VLCADD-deficient individuals for developing clinical signs and symptoms. Twit Text FOAVip The Newborn Screening Paradox: Sensitivity vs Overdiagnosis in VLCAD Deficiency ????JIMD Rep http://www.kidney.de/pget.php?&tw=1&pmid=26453363 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=26453363 #FOAvip English Wikipedia <ref>{{Cite pmid|26453363}}</ref> The Newborn Screening Paradox: Sensitivity vs Overdiagnosis in VLCAD Deficiency #MMPMID26453363 Diekman E; de Sain-van der Velden M; Waterham H; Kluijtmans L; Schielen P; van Veen EB; Ferdinandusse S; Wijburg F; Visser G; Baumgartner M; Patterson M; Rahman S; Peters V; Morava E; Zschocke J JIMD Rep 2016[]; 27 (ä): 101-6 PMID26453363show ga Objective: To improve the efficacy of newborn screening (NBS) for very long chain acyl-CoA dehydrogenase deficiency (VLCADD).Patients and Methods: Data on all dried blood spots collected by the Dutch NBS from October 2007 to 2010 (742.728) were included. Based solely on the C14:1 levels (cutoff ?0.8 ?mol/L), six newborns with VLCADD had been identified through NBS during this period. The ratio of C14:1 over C2 was calculated. DNA of all blood spots with a C14:1/C2 ratio of ?0.020 was isolated and sequenced. Children homozygous or compound heterozygous for mutations in the ACADVL gene were traced back and invited for detailed clinical, biochemical, and genetic evaluation.Results: Retrospective analysis based on the C14:1/C2 ratio with a cutoff of ?0.020 identified an additional five children with known ACADVL mutations and low enzymatic activity. All were still asymptomatic at the time of diagnosis (age 2?5 years). Increasing the cutoff to ?0.023 resulted in a sensitivity of 93% and a positive predictive value of 37%. The sensitivity of the previously used screening approach (C14:1 ?0.8) was 50%.Conclusion: This study shows that the ratio C14:1/C2 is a more sensitive marker than C14:1 for identifying VLCADD patients in NBS. However, as these patients were all asymptomatic at the time of diagnosis, this suggests that a more sensitive screening approach may also identify individuals who may never develop clinical disease. Long-term follow-up studies are needed to establish the risk of these VLCADD-deficient individuals for developing clinical signs and symptoms. äThe Newborn Screening Paradox: Sensitivity vs Overdiagnosis in VLCAD (epmc).pdf DeepDyve Pubget Overpricing