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Roberto Giugliani - One of the best experts on this subject based on the ideXlab platform.
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Extended use of a selective inhibitor of acid lipase for the diagnosis of Wolman disease and cholesteryl ester storage disease.
Gene, 2014Co-Authors: Gabriel Civallero, Maira Burin, J. De Mari, Camila Matzenbacher Bittar, Roberto GiuglianiAbstract:Abstract Lysosomal acid lipase (LAL) deficiency produces two well defined inborn disorders, Wolman disease (WD) and cholesteryl ester storage disease (CESD). WD is a severe, early-onset condition involving massive storage of triglycerides and cholesteryl esters in the liver, with death usually occurring before one year of life. CESD is a more attenuated, later-onset disease that leads to a progressive and variable liver dysfunction. Diagnosis of LAL deficiency is mainly based on the enzyme assay of LAL activity in fibroblasts. Recently, a selective acid lipase inhibitor was used for the determination of enzyme activity in dried-Blood Filter paper (DBFP) samples. To extend and to validate these studies, we tested LAL activity with selective inhibition on DBFP samples, leukocytes and fibroblasts. Our results showed a clear discrimination between patients with LAL deficiency and healthy controls when using DBFP, leukocytes or fibroblasts (p
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twelve different enzyme assays on dried Blood Filter paper samples for detection of patients with selected inherited lysosomal storage diseases
Clinica Chimica Acta, 2006Co-Authors: Gabriel Civallero, Kristiane Michelin, Marli Viapiana, Maira Burin, Janice C Coelho, Jurema Fatima De Mari, Roberto GiuglianiAbstract:Abstract Background Diagnoses of inherited lysosomal storage diseases are based on specific enzymatic assays performed on plasma, leukocytes, fibroblasts, and lately, dried-Blood Filter paper samples. We evaluated feasibility of detecting of patients with several inherited lysosomal storage diseases using dried-Blood Filter paper samples for appropriate enzyme assays. Methods Fluorometric methods were used to evaluate the activities of arylsulfatase B, α- N -acetylglucosaminidase, chitotriosidase, α and β-galactosidases, β-glucosidase, β-glucuronidase, total hexosaminidases, hexosaminidase A, α-iduronidase, and iduronate-2-sulfatase. A radiometric method was used for sphyngomyelinase determination. Single 3.0-mm diameter disks containing dried-Blood samples were incubated at 37 °C with appropriate dilution buffers and artificial substrates, and the fluorescence or radioactivity was measured. Results Our results showed a statistically significant difference of the enzyme activity between affected individuals and controls, in all the assays performed. In contrast, we have not obtained a complete differentiation between heterozygotes and controls with these assays. Conclusions Enzyme assay on dried-Blood Filter paper is a suitable method to screen for several lysosomal storage diseases. Despite the low individual incidence of these pathologies, the incorporation of individual enzyme assays in neonatal screening programs could be justified to screen for diseases with relatively high local frequency and therapeutic measures available.
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Twelve different enzyme assays on dried-Blood Filter paper samples for detection of patients with selected inherited lysosomal storage diseases.
Clinica chimica acta; international journal of clinical chemistry, 2006Co-Authors: Gabriel Civallero, Kristiane Michelin, Jurema De Mari, Marli Viapiana, Maira Burin, Janice C Coelho, Roberto GiuglianiAbstract:Diagnoses of inherited lysosomal storage diseases are based on specific enzymatic assays performed on plasma, leukocytes, fibroblasts, and lately, dried-Blood Filter paper samples. We evaluated feasibility of detecting of patients with several inherited lysosomal storage diseases using dried-Blood Filter paper samples for appropriate enzyme assays. Fluorometric methods were used to evaluate the activities of arylsulfatase B, alpha-N-acetylglucosaminidase, chitotriosidase, alpha and beta-galactosidases, beta-glucosidase, beta-glucuronidase, total hexosaminidases, hexosaminidase A, alpha-iduronidase, and iduronate-2-sulfatase. A radiometric method was used for sphyngomyelinase determination. Single 3.0-mm diameter disks containing dried-Blood samples were incubated at 37 degrees C with appropriate dilution buffers and artificial substrates, and the fluorescence or radioactivity was measured. Our results showed a statistically significant difference of the enzyme activity between affected individuals and controls, in all the assays performed. In contrast, we have not obtained a complete differentiation between heterozygotes and controls with these assays. Enzyme assay on dried-Blood Filter paper is a suitable method to screen for several lysosomal storage diseases. Despite the low individual incidence of these pathologies, the incorporation of individual enzyme assays in neonatal screening programs could be justified to screen for diseases with relatively high local frequency and therapeutic measures available.
Gabriel Civallero - One of the best experts on this subject based on the ideXlab platform.
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Extended use of a selective inhibitor of acid lipase for the diagnosis of Wolman disease and cholesteryl ester storage disease.
Gene, 2014Co-Authors: Gabriel Civallero, Maira Burin, J. De Mari, Camila Matzenbacher Bittar, Roberto GiuglianiAbstract:Abstract Lysosomal acid lipase (LAL) deficiency produces two well defined inborn disorders, Wolman disease (WD) and cholesteryl ester storage disease (CESD). WD is a severe, early-onset condition involving massive storage of triglycerides and cholesteryl esters in the liver, with death usually occurring before one year of life. CESD is a more attenuated, later-onset disease that leads to a progressive and variable liver dysfunction. Diagnosis of LAL deficiency is mainly based on the enzyme assay of LAL activity in fibroblasts. Recently, a selective acid lipase inhibitor was used for the determination of enzyme activity in dried-Blood Filter paper (DBFP) samples. To extend and to validate these studies, we tested LAL activity with selective inhibition on DBFP samples, leukocytes and fibroblasts. Our results showed a clear discrimination between patients with LAL deficiency and healthy controls when using DBFP, leukocytes or fibroblasts (p
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twelve different enzyme assays on dried Blood Filter paper samples for detection of patients with selected inherited lysosomal storage diseases
Clinica Chimica Acta, 2006Co-Authors: Gabriel Civallero, Kristiane Michelin, Marli Viapiana, Maira Burin, Janice C Coelho, Jurema Fatima De Mari, Roberto GiuglianiAbstract:Abstract Background Diagnoses of inherited lysosomal storage diseases are based on specific enzymatic assays performed on plasma, leukocytes, fibroblasts, and lately, dried-Blood Filter paper samples. We evaluated feasibility of detecting of patients with several inherited lysosomal storage diseases using dried-Blood Filter paper samples for appropriate enzyme assays. Methods Fluorometric methods were used to evaluate the activities of arylsulfatase B, α- N -acetylglucosaminidase, chitotriosidase, α and β-galactosidases, β-glucosidase, β-glucuronidase, total hexosaminidases, hexosaminidase A, α-iduronidase, and iduronate-2-sulfatase. A radiometric method was used for sphyngomyelinase determination. Single 3.0-mm diameter disks containing dried-Blood samples were incubated at 37 °C with appropriate dilution buffers and artificial substrates, and the fluorescence or radioactivity was measured. Results Our results showed a statistically significant difference of the enzyme activity between affected individuals and controls, in all the assays performed. In contrast, we have not obtained a complete differentiation between heterozygotes and controls with these assays. Conclusions Enzyme assay on dried-Blood Filter paper is a suitable method to screen for several lysosomal storage diseases. Despite the low individual incidence of these pathologies, the incorporation of individual enzyme assays in neonatal screening programs could be justified to screen for diseases with relatively high local frequency and therapeutic measures available.
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Twelve different enzyme assays on dried-Blood Filter paper samples for detection of patients with selected inherited lysosomal storage diseases.
Clinica chimica acta; international journal of clinical chemistry, 2006Co-Authors: Gabriel Civallero, Kristiane Michelin, Jurema De Mari, Marli Viapiana, Maira Burin, Janice C Coelho, Roberto GiuglianiAbstract:Diagnoses of inherited lysosomal storage diseases are based on specific enzymatic assays performed on plasma, leukocytes, fibroblasts, and lately, dried-Blood Filter paper samples. We evaluated feasibility of detecting of patients with several inherited lysosomal storage diseases using dried-Blood Filter paper samples for appropriate enzyme assays. Fluorometric methods were used to evaluate the activities of arylsulfatase B, alpha-N-acetylglucosaminidase, chitotriosidase, alpha and beta-galactosidases, beta-glucosidase, beta-glucuronidase, total hexosaminidases, hexosaminidase A, alpha-iduronidase, and iduronate-2-sulfatase. A radiometric method was used for sphyngomyelinase determination. Single 3.0-mm diameter disks containing dried-Blood samples were incubated at 37 degrees C with appropriate dilution buffers and artificial substrates, and the fluorescence or radioactivity was measured. Our results showed a statistically significant difference of the enzyme activity between affected individuals and controls, in all the assays performed. In contrast, we have not obtained a complete differentiation between heterozygotes and controls with these assays. Enzyme assay on dried-Blood Filter paper is a suitable method to screen for several lysosomal storage diseases. Despite the low individual incidence of these pathologies, the incorporation of individual enzyme assays in neonatal screening programs could be justified to screen for diseases with relatively high local frequency and therapeutic measures available.
Jan T. Kielstein - One of the best experts on this subject based on the ideXlab platform.
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Clearance of chloroquine and hydroxychloroquine by the Seraph® 100 Microbinda Affinity Blood Filter -a device approved for the treatment of COVID-19 patients.
Therapeutic apheresis and dialysis : official peer-reviewed journal of the International Society for Apheresis the Japanese Society for Apheresis the , 2020Co-Authors: Malin-theres Seffer, Julius J. Schmidt, Gabriele Eden, Jens Martens-lobenhoffer, Stefanie M. Bode-böger, Jan T. KielsteinAbstract:On April 17th 2020 the US Food and Drug Administration granted Coronavirus Disease 2019 (COVID-19) emergency use authorizations for the Seraph® 100 Microbind® Affinity Blood Filter. The medical device is aimed to treat critically ill COVID-19 patients with confirmed or imminent respiratory failure. The aim of this life size in vitro pharmacokinetic study was to investigate the in-vitro adsorption of chloroquine and hydroxychloroquine from human plasma using equipment that is also used at the bedside. After start of the hemoperfusion Pre (Cpre ) Seraph® plasma levels were obtained at 5 (C5 ), 10 (C10 ), 15 (C15 ), 30 (C30 ), 60 (C60 ) and 120 (C120 ) minutes into the procedure. At two timepoints (5 min and 120 min) post (Cpost ) Seraph® plasma levels were determined that were used to calculate the plasma clearance. Both drugs were determined using a validated HPLC method Median [IQR] plasma clearance of the Seraph for chloroquine / hydroxychloroquine was 1.71 [0.51-4.38] ml/min / 1.79 [0.21-3.68] ml/min respectively. The lack of elimination was also confirmed by the fact that plasma levels did not change over the 120 min treatment. As neither chloroquine nor hydroxychloroquine were removed by the treatment with the Seraph dose adjustments in COVID-19 patients undergoing this treatment are not necessary. This article is protected by copyright. All rights reserved.
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In vitro elimination of anti-infective drugs by the Seraph® 100 Microbind® affinity Blood Filter.
Clinical kidney journal, 2020Co-Authors: Julius J. Schmidt, Gabriele Eden, Malin-theres Seffer, Manuela Winkler, Jan T. KielsteinAbstract:Background In August 2019, the European Union licensed the first ever haemoperfusion device aimed to reduce pathogens in the Blood. The core of the adsorber consists of ultra-high molecular weight polyethylene beads with endpoint-attached heparin. These beads utilize pathogen inherent adhesion mechanisms to reduce pathogen load. So far, it is unknown whether the device has an effect on anti-infective drug concentrations. The aim of this study was to investigate the in vitro adsorption of multiple anti-infective drugs from human plasma. Methods In this in vitro study, 18 anti-infective drugs were administered to human donor plasma and pumped through the heparin-coated pathogen adsorber (Seraph® 100 Microbind®Affinity Blood Filter; ExThera Medical Corp., Martinez, CA, USA) at a plasma flow rate of 250 mL/min for 60 min. Pre- and post-adsorber plasma samples were quantified after 5, 15, 30 and 60 min. Results We found a reduction ratio (RR) in anti-infective plasma levels between -1% and 62%. This decrease occurred mainly in the first 5 min of the experiment (RR0-5 -4 to 62%). Mean plasma clearance rates ranged between -11.93 mL/min (fluconazole) and 4.86 mL/min (clindamycin). The highest RRs were measured for aminoglycosides (tobramycin 62% and gentamycin 59%). Conclusions The elimination of anti-infective drugs by the Seraph is neglectable in all but 2 of 18 of the investigated substances. Aminoglycosides may be adsorbed by the device during their first pass.
Maira Burin - One of the best experts on this subject based on the ideXlab platform.
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Extended use of a selective inhibitor of acid lipase for the diagnosis of Wolman disease and cholesteryl ester storage disease.
Gene, 2014Co-Authors: Gabriel Civallero, Maira Burin, J. De Mari, Camila Matzenbacher Bittar, Roberto GiuglianiAbstract:Abstract Lysosomal acid lipase (LAL) deficiency produces two well defined inborn disorders, Wolman disease (WD) and cholesteryl ester storage disease (CESD). WD is a severe, early-onset condition involving massive storage of triglycerides and cholesteryl esters in the liver, with death usually occurring before one year of life. CESD is a more attenuated, later-onset disease that leads to a progressive and variable liver dysfunction. Diagnosis of LAL deficiency is mainly based on the enzyme assay of LAL activity in fibroblasts. Recently, a selective acid lipase inhibitor was used for the determination of enzyme activity in dried-Blood Filter paper (DBFP) samples. To extend and to validate these studies, we tested LAL activity with selective inhibition on DBFP samples, leukocytes and fibroblasts. Our results showed a clear discrimination between patients with LAL deficiency and healthy controls when using DBFP, leukocytes or fibroblasts (p
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twelve different enzyme assays on dried Blood Filter paper samples for detection of patients with selected inherited lysosomal storage diseases
Clinica Chimica Acta, 2006Co-Authors: Gabriel Civallero, Kristiane Michelin, Marli Viapiana, Maira Burin, Janice C Coelho, Jurema Fatima De Mari, Roberto GiuglianiAbstract:Abstract Background Diagnoses of inherited lysosomal storage diseases are based on specific enzymatic assays performed on plasma, leukocytes, fibroblasts, and lately, dried-Blood Filter paper samples. We evaluated feasibility of detecting of patients with several inherited lysosomal storage diseases using dried-Blood Filter paper samples for appropriate enzyme assays. Methods Fluorometric methods were used to evaluate the activities of arylsulfatase B, α- N -acetylglucosaminidase, chitotriosidase, α and β-galactosidases, β-glucosidase, β-glucuronidase, total hexosaminidases, hexosaminidase A, α-iduronidase, and iduronate-2-sulfatase. A radiometric method was used for sphyngomyelinase determination. Single 3.0-mm diameter disks containing dried-Blood samples were incubated at 37 °C with appropriate dilution buffers and artificial substrates, and the fluorescence or radioactivity was measured. Results Our results showed a statistically significant difference of the enzyme activity between affected individuals and controls, in all the assays performed. In contrast, we have not obtained a complete differentiation between heterozygotes and controls with these assays. Conclusions Enzyme assay on dried-Blood Filter paper is a suitable method to screen for several lysosomal storage diseases. Despite the low individual incidence of these pathologies, the incorporation of individual enzyme assays in neonatal screening programs could be justified to screen for diseases with relatively high local frequency and therapeutic measures available.
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Twelve different enzyme assays on dried-Blood Filter paper samples for detection of patients with selected inherited lysosomal storage diseases.
Clinica chimica acta; international journal of clinical chemistry, 2006Co-Authors: Gabriel Civallero, Kristiane Michelin, Jurema De Mari, Marli Viapiana, Maira Burin, Janice C Coelho, Roberto GiuglianiAbstract:Diagnoses of inherited lysosomal storage diseases are based on specific enzymatic assays performed on plasma, leukocytes, fibroblasts, and lately, dried-Blood Filter paper samples. We evaluated feasibility of detecting of patients with several inherited lysosomal storage diseases using dried-Blood Filter paper samples for appropriate enzyme assays. Fluorometric methods were used to evaluate the activities of arylsulfatase B, alpha-N-acetylglucosaminidase, chitotriosidase, alpha and beta-galactosidases, beta-glucosidase, beta-glucuronidase, total hexosaminidases, hexosaminidase A, alpha-iduronidase, and iduronate-2-sulfatase. A radiometric method was used for sphyngomyelinase determination. Single 3.0-mm diameter disks containing dried-Blood samples were incubated at 37 degrees C with appropriate dilution buffers and artificial substrates, and the fluorescence or radioactivity was measured. Our results showed a statistically significant difference of the enzyme activity between affected individuals and controls, in all the assays performed. In contrast, we have not obtained a complete differentiation between heterozygotes and controls with these assays. Enzyme assay on dried-Blood Filter paper is a suitable method to screen for several lysosomal storage diseases. Despite the low individual incidence of these pathologies, the incorporation of individual enzyme assays in neonatal screening programs could be justified to screen for diseases with relatively high local frequency and therapeutic measures available.
Kristiane Michelin - One of the best experts on this subject based on the ideXlab platform.
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twelve different enzyme assays on dried Blood Filter paper samples for detection of patients with selected inherited lysosomal storage diseases
Clinica Chimica Acta, 2006Co-Authors: Gabriel Civallero, Kristiane Michelin, Marli Viapiana, Maira Burin, Janice C Coelho, Jurema Fatima De Mari, Roberto GiuglianiAbstract:Abstract Background Diagnoses of inherited lysosomal storage diseases are based on specific enzymatic assays performed on plasma, leukocytes, fibroblasts, and lately, dried-Blood Filter paper samples. We evaluated feasibility of detecting of patients with several inherited lysosomal storage diseases using dried-Blood Filter paper samples for appropriate enzyme assays. Methods Fluorometric methods were used to evaluate the activities of arylsulfatase B, α- N -acetylglucosaminidase, chitotriosidase, α and β-galactosidases, β-glucosidase, β-glucuronidase, total hexosaminidases, hexosaminidase A, α-iduronidase, and iduronate-2-sulfatase. A radiometric method was used for sphyngomyelinase determination. Single 3.0-mm diameter disks containing dried-Blood samples were incubated at 37 °C with appropriate dilution buffers and artificial substrates, and the fluorescence or radioactivity was measured. Results Our results showed a statistically significant difference of the enzyme activity between affected individuals and controls, in all the assays performed. In contrast, we have not obtained a complete differentiation between heterozygotes and controls with these assays. Conclusions Enzyme assay on dried-Blood Filter paper is a suitable method to screen for several lysosomal storage diseases. Despite the low individual incidence of these pathologies, the incorporation of individual enzyme assays in neonatal screening programs could be justified to screen for diseases with relatively high local frequency and therapeutic measures available.
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Twelve different enzyme assays on dried-Blood Filter paper samples for detection of patients with selected inherited lysosomal storage diseases.
Clinica chimica acta; international journal of clinical chemistry, 2006Co-Authors: Gabriel Civallero, Kristiane Michelin, Jurema De Mari, Marli Viapiana, Maira Burin, Janice C Coelho, Roberto GiuglianiAbstract:Diagnoses of inherited lysosomal storage diseases are based on specific enzymatic assays performed on plasma, leukocytes, fibroblasts, and lately, dried-Blood Filter paper samples. We evaluated feasibility of detecting of patients with several inherited lysosomal storage diseases using dried-Blood Filter paper samples for appropriate enzyme assays. Fluorometric methods were used to evaluate the activities of arylsulfatase B, alpha-N-acetylglucosaminidase, chitotriosidase, alpha and beta-galactosidases, beta-glucosidase, beta-glucuronidase, total hexosaminidases, hexosaminidase A, alpha-iduronidase, and iduronate-2-sulfatase. A radiometric method was used for sphyngomyelinase determination. Single 3.0-mm diameter disks containing dried-Blood samples were incubated at 37 degrees C with appropriate dilution buffers and artificial substrates, and the fluorescence or radioactivity was measured. Our results showed a statistically significant difference of the enzyme activity between affected individuals and controls, in all the assays performed. In contrast, we have not obtained a complete differentiation between heterozygotes and controls with these assays. Enzyme assay on dried-Blood Filter paper is a suitable method to screen for several lysosomal storage diseases. Despite the low individual incidence of these pathologies, the incorporation of individual enzyme assays in neonatal screening programs could be justified to screen for diseases with relatively high local frequency and therapeutic measures available.