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10.1371/journal.pone.0239675 http://scihub22266oqcxt.onion/10.1371/journal.pone.0239675 32987398!7521938!32987398     free     free     free Deprecated: Implicit conversion from float 227.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 227.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 227.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 227.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       PLoS+One 2020 ; 15 (9): e0239675 Nephropedia Template TP {{tp|p=32987398|t=2020. Screening for Fabry Disease in patients with unexplained left ventricular hypertrophy |pdf=|usr=}}{{32987398}} gab.com Text Screening for Fabry Disease in patients with unexplained left ventricular hypertrophy JO: PLoS One http://www.kidney.de/pget.php?&tw=1&pmid=32987398 #FOAvip Fabry Disease (FD) is a systemic disorder that can result in cardiovascular, renal, and neurovascular disease leading to reduced life expectancy. FD should be considered in the differential of all patients with unexplained left ventricular hypertrophy (LVH). We therefore performed a prospective screening study in Edmonton and Hong Kong using Dried Blood Spot (DBS) testing on patients with undiagnosed LVH. Participants found to have unexplained LVH on echocardiography were invited to participate and subsequently subjected to DBS testing. DBS testing was used to measure alpha-galactosidase (alpha-GAL) enzyme activity and for mutation analysis of the alpha-galactosidase (GLA) gene, both of which are required to make a diagnosis of FD. DBS testing was performed as a screening tool on patients (n = 266) in Edmonton and Hong Kong, allowing for detection of five patients with FD (2% prevalence of FD) and one patient with hydroxychloroquine-induced phenocopy. Left ventricular mass index (LVMI) by GLA genotype showed a higher LVMI in patients with IVS4 + 919G > A mutations compared to those without the mutation. Two patients were initiated on ERT and hydroxychloroquine was discontinued in the patient with a phenocopy of FD. Overall, we detected FD in 2% of our screening cohort using DBS testing as an effective and easy to administer screening tool in patients with unexplained LVH. Utilizing DBS testing to screen for FD in patients with otherwise undiagnosed LVH is clinically important due to the availability of effective therapies and the value of cascade screening in extended families. Twit Text FOAVip Screening for Fabry Disease in patients with unexplained left ventricular hypertrophy ????PLoS One http://www.kidney.de/pget.php?&tw=1&pmid=32987398 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=32987398 #FOAvip English Wikipedia <ref>{{Cite pmid|32987398}}</ref> Screening for Fabry Disease in patients with unexplained left ventricular hypertrophy #MMPMID32987398 Sadasivan C; Chow JTY; Sheng B; Chan DKH; Fan Y; Choi PCL; Wong JKT; Tong MMB; Chan TN; Fung E; Kam KKH; Chan JYS; Chi WK; Paterson DI; Senaratne M; Brass N; Oudit GY; Lee APW PLoS One 2020[]; 15 (9): e0239675 PMID32987398show ga Fabry Disease (FD) is a systemic disorder that can result in cardiovascular, renal, and neurovascular disease leading to reduced life expectancy. FD should be considered in the differential of all patients with unexplained left ventricular hypertrophy (LVH). We therefore performed a prospective screening study in Edmonton and Hong Kong using Dried Blood Spot (DBS) testing on patients with undiagnosed LVH. Participants found to have unexplained LVH on echocardiography were invited to participate and subsequently subjected to DBS testing. DBS testing was used to measure alpha-galactosidase (alpha-GAL) enzyme activity and for mutation analysis of the alpha-galactosidase (GLA) gene, both of which are required to make a diagnosis of FD. DBS testing was performed as a screening tool on patients (n = 266) in Edmonton and Hong Kong, allowing for detection of five patients with FD (2% prevalence of FD) and one patient with hydroxychloroquine-induced phenocopy. Left ventricular mass index (LVMI) by GLA genotype showed a higher LVMI in patients with IVS4 + 919G > A mutations compared to those without the mutation. Two patients were initiated on ERT and hydroxychloroquine was discontinued in the patient with a phenocopy of FD. Overall, we detected FD in 2% of our screening cohort using DBS testing as an effective and easy to administer screening tool in patients with unexplained LVH. Utilizing DBS testing to screen for FD in patients with otherwise undiagnosed LVH is clinically important due to the availability of effective therapies and the value of cascade screening in extended families. |Adult[MESH] |Aged[MESH] |Aged, 80 and over[MESH] |DNA Mutational Analysis[MESH] |Diagnosis, Differential[MESH] |Dried Blood Spot Testing[MESH] |Echocardiography[MESH] |Fabry Disease/*diagnosis/*enzymology/epidemiology[MESH] |Female[MESH] |Genotype[MESH] |Hong Kong/epidemiology[MESH] |Humans[MESH] |Hypertrophy, Left Ventricular/*diagnosis/*enzymology/epidemiology[MESH] |Male[MESH] |Mass Screening/*methods[MESH] |Middle Aged[MESH] |Mutation[MESH] |Phenotype[MESH] |Prospective Studies[MESH]Screening for Fabry Disease in patients with unexplained left ventricu(epmc).pdf DeepDyve Pubget Overpricing