Epidemiology of mucopolysaccharidoses

Current status of newborn screening worldwide: 2015

Lysosomal Storage Disorder Screening Implementation: Findings from the First Six Months of Full Population Pilot Testing in Missouri

Glycosaminoglycans detection methods: Applications of mass spectrometry.

Newborn screening for lysosomal storage disorders.

Mucopolysaccharidosis type I (MPS I) is a genetic disease caused by the deficiency of α-L-iduronidase (IDUA) activity. MPS I is classified into three clinical phenotypes called Hurler, Scheie, and Hurler-Scheie syndromes according to their clinical severity. Treatments for MPS I are available. Better outcomes are associated with early treatment, which suggests a need for newborn screening for MPS I. The goal of this study was to determine whether measuring IDUA activity in dried blood on filter paper was effective in newborn screening for MPS I. We conducted a newborn screening pilot program for MPS I from October 01, 2008 to April 30, 2013. Screening involved measuring IDUA activity in dried blood spots from 35,285 newborns using a fluorometric assay. Of the 35,285 newborns screened, 19 did not pass the tests and had been noticed for a recall examination. After completing further recheck process, 3 were recalled again for leukocyte IDUA enzyme activity testing. Two of the three had deficient leukocyte IDUA activity. Molecular DNA analyses confirmed the diagnosis of MPS I in these two newborns. It is feasible to use the IDUA enzyme assay for newborn screening. The incidence of MPS I in Taiwan estimated from this study is about 1/17,643.

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A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan.

The identification of acid mucopolysaccharide by the liquid chromatography/tandem mass spectrometry method (LC-MS/MS) of the predominant disaccharide units of glycosaminoglycans (GAGs) (chondroitin sulfate, CS; dermatan sulfate, DS; heparan sulfate, HS) after methanolysis is validated and applicable for mucopolysaccharidosis (MPS) type determination. A total of 76 urine samples were collected and analyzed, from nine MPS I patients, 13 MPS II patients, seven MPS III patients, eight MPS VI patients, and 39 normal controls. Urinary GAG was first precipitated by the Alcian blue method followed by a treatment of 3 N HCl methanol. The protonated species of the methylated disaccharide products were detected by using a multiple reaction monitoring experiment. Internal standards, [2H6] CS, [2H6] DS and [2H6] HS, were prepared in-house by deuteriomethanolysis of CS, DS and HS. One particular disaccharide for each GAG was selected, in which the parent ion and its daughter ion after collision were m/z 426.1 → 236.2 for DS (m/z 432 → 239 for dimers derived from [2H6] CS and [2H6] DS) and m/z 384.2 → 161.9 for HS (m/z 390.4 → 162.5 for the [2H6] HS dimer). The quantities of DS and HS were determined, which varied from one MPS type to the other. The results can be used to evaluate the severity of MPS subgroups, as well as urinary GAG amelioration at follow-up after enzyme replacement therapy (ERT). The modified LC–MS/MS method for MPS type determination is specific, sensitive, validated, accurate, and applicable for simultaneous quantifications of urinary DS and HS. This method can help to make correct diagnosis of MPS patients and evaluate the effectiveness of ERT.

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A modified liquid chromatography/tandem mass spectrometry method for predominant disaccharide units of urinary glycosaminoglycans in patients with mucopolysaccharidoses

We developed and applied a method for measuring selected persistent organic pollutants (POPs) (i.e., polybrominated diphenyl ethers (PBDEs), organochlorine pesticides, and polychlorinated biphenyls (PCBs)) in dust collected from pregnant African Americans (AAs) in Atlanta using isotope dilution gas chromatography-tandem mass spectrometry. Limits of quantification were ranged from 0.10 to 2.50 ng/g dust. NIST standard reference material measurements demonstrated the robustness of our method. Our accuracies ranged from 82 to 108%, relative standard deviations ranged from 2 to 16%, and extraction recoveries ranged from 76 to 102%. We measured POPs in dust collected from 34 homes of pregnant AAs participating in the Atlanta AA birth cohort study who were enrolled from 2016 to 2019. Concentrations of POPs were detected in all samples with the frequencies of detection ranging from 8 to 100%. Concentrations of PBDE congeners 99 and 47, p,p’-DDT, and PCB153 were detected at some of the highest concentrations with geometric means of 1270, 730, 63.4 and 240 ng/g, respectively. The ratio of DDT/DDE was quite large (~2.7) indicating that p,p’-DDT remains intact in homes for long periods of time. These data demonstrate that care should be taken to remediate POPs in indoor dust, especially in vulnerable, disparate segments of the population.

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Legacy Chemical Pollutants in House Dust of Homes of Pregnant African Americans in Atlanta

Improving the Selectivity of the Key Binding Intermediates of Saline Electrolysis by Decorating Electrodes with Layered Materials and its Environmental and Chemical Engineering Application

Chia-Chen Tsai

Papers

A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan.

A modified liquid chromatography/tandem mass spectrometry method for predominant disaccharide units of urinary glycosaminoglycans in patients with mucopolysaccharidoses

Legacy Chemical Pollutants in House Dust of Homes of Pregnant African Americans in Atlanta

Improving the Selectivity of the Key Binding Intermediates of Saline Electrolysis by Decorating Electrodes with Layered Materials and its Environmental and Chemical Engineering Application

Enhanced ROS Selectivity in Saline Electrolysis by Decorating Electrodes with Layered Materials