Ca Granda Foundation Irccs

Milano, Italy

Ca Granda Foundation Irccs

Milano, Italy

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Stroppiano M.,Instituto G Gaslini | Calevo M.G.,Instituto G Gaslini | Corsolini F.,Instituto G Gaslini | Cassanello M.,Instituto G Gaslini | And 6 more authors.
Clinical Biochemistry | Year: 2014

Objectives: Gaucher disease (GD) diagnosis relies on the demonstration of deficient β-. d-glucosidase (GBA) activity in cellular homogenates. Diagnosis process, however, can be delayed as (i) some GD symptoms are non-specific; and (ii) diagnostic tests are performed in specialized laboratories. These difficulties negatively impact on timely access of patients to therapy. GBA assay in dried blood spots (DBS) represents a method facilitating early identification of patients who will be finally diagnosed with gold standard assay of nucleated cells. Aim of this study is to investigate the DBS analytical performance compared with gold standard method. Design & methods: A cross-sectional study started by comparing data of 50 DBS and 50 homogenate samples from the same subjects (25 known-GD and 25 controls). The subsequent phase examined 443 DBS samples. Along with these, 73 blood samples were sent for leukocyte separation and/or EBV-lymphoblast cell lines, and 1 skin biopsy for fibroblast cell lines. Overall the study included a total of 493 subjects. Results: While the results from this first validation group did not yield false positive/negative values, when the analysis was extended to 443 DBS, 14.4% (64 samples) of positive results was yielded. Among these, only 15 were confirmed as GD values with gold standard test. In addition, a thorough examination of some clinical data also revealed 2 false negative results which were confirmed by both enzymatic and molecular analyses. Conclusions: DBS test could be useful as screening method although with cautions, whereas the standardized GBA assay should remain the gold standard for laboratory diagnosis of Gaucher disease. © 2014 The Canadian Society of Clinical Chemists.


PubMed | Ca Granda Foundation IRCCS, Instituto G Gaslini and University of Milan
Type: Journal Article | Journal: Clinical biochemistry | Year: 2014

Gaucher disease (GD) diagnosis relies on the demonstration of deficient -D-glucosidase (GBA) activity in cellular homogenates. Diagnosis process, however, can be delayed as (i) some GD symptoms are non-specific; and (ii) diagnostic tests are performed in specialized laboratories. These difficulties negatively impact on timely access of patients to therapy. GBA assay in dried blood spots (DBS) represents a method facilitating early identification of patients who will be finally diagnosed with gold standard assay of nucleated cells. Aim of this study is to investigate the DBS analytical performance compared with gold standard method.A cross-sectional study started by comparing data of 50 DBS and 50 homogenate samples from the same subjects (25 known-GD and 25 controls). The subsequent phase examined 443 DBS samples. Along with these, 73 blood samples were sent for leukocyte separation and/or EBV-lymphoblast cell lines, and 1 skin biopsy for fibroblast cell lines. Overall the study included a total of 493 subjects.While the results from this first validation group did not yield false positive/negative values, when the analysis was extended to 443 DBS, 14.4% (64 samples) of positive results was yielded. Among these, only 15 were confirmed as GD values with gold standard test. In addition, a thorough examination of some clinical data also revealed 2 false negative results which were confirmed by both enzymatic and molecular analyses.DBS test could be useful as screening method although with cautions, whereas the standardized GBA assay should remain the gold standard for laboratory diagnosis of Gaucher disease.


Ferraresso M.,Ca Granda Foundation Irccs | Ferraresso M.,University of Milan | Bortolani E.M.,University of Milan | Amnon G.,Nicast Ltd
Journal of Vascular Access | Year: 2016

We present our experience with AVflo™, a nanofiber, electrospun, self-sealing, early-access graft for hemodialysis (HD). Objective: Evaluating the safety and efficacy of the AVflo™ graft in terms of patency and complications (early and late) over 2 years. Materials and methods: Twelve end-stage renal disease (ESRD) patients (age: mean 68.5 ± 10 years) were followed up for a mean period of 946 ± 570 days after receiving an implantation of the graft for HD. The grafts were implanted at the lower arm (loop configuration), upper arm (straight configuration) and the thigh (loop configuration). First dialysis was performed at day 7 (3-21) following implantation. Results and discussion: After a mean follow up of 24 months, the primary patency was 56% and the secondary patency was 82%. In this group, AVflo™ shows similar if not superior efficacy and safety to that of available grafts in terms of safety, complications, and long-term patency. © 2016 Wichtig Publishing.


PubMed | Nicast Ltd, Ca Granda Foundation Irccs and University of Milan
Type: Journal Article | Journal: The journal of vascular access | Year: 2016

Evaluating the safety and efficacy of the AVflo graft in terms of patency and complications (early and late) over 2 years.Twelve end-stage renal disease (ESRD) patients (age: mean 68.5 10 years) were followed up for a mean period of 946 570 days after receiving an implantation of the graft for HD. The grafts were implanted at the lower arm (loop configuration), upper arm (straight configuration) and the thigh (loop configuration). First dialysis was performed at day 7 (3-21) following implantation.After a mean follow up of 24 months, the primary patency was 56% and the secondary patency was 82%. In this group, AVflo shows similar if not superior efficacy and safety to that of available grafts in terms of safety, complications, and long-term patency.

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