Newborn Screening of 6 Lysosomal Storage Disorders by Tandem Mass Spectrometry.

This study was designed to screen 6 lysosomal storage diseases (LSDs) in neonates using tandem mass spectrometry (MS/MS), and establish cutoff values for these LSDs with 3000 dried blood spots (DBS) samples. Cutoff values for α-L-iduronidase (IDUA), α-galactosidase (GLA), acid beta glucosidase (ABG), β-galactocerebrosidase (GALC), acid sphingomyelinase (ASM), and acid alpha glucosidase (GAA) were as follows: GLA, > 2.06 μmol/L·h; ABG, > 1.

Characterization of phenylalanine hydroxylase gene variants and analysis of genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Fujian Province, Southeastern China.

Background: Phenylalanine hydroxylase deficiency (PAHD) is the most prevalent inherited disorder of amino acid metabolism in China. Its complex phenotype includes many variants and genotypes among different populations.

Methods And Results: In this study, we analyzed the phenylalanine hydroxylase gene (PAH) variants in a cohort of 93 PAHD patients from Fujian Province.

Development and internal validation of a multivariable prediction model for 6-year risk of stroke: a cohort study in middle-aged and elderly Chinese population.

Objective: To develop and internally validate a prediction model for 6-year risk of stroke and its primary subtypes in middle-aged and elderly Chinese population.

Design: This is a retrospective cohort study from a prospectively collected database.

Participants: We included a total 3124 adults aged 45-80 years, free of stroke or myocardial infarction at baseline in the 2009-2015 cohort of China Health and Nutrition Survey.

Gene diagnosis and pedigree analysis of two Han ethnicity families with propionic acidemia in Fujian.

Propionic acidemia is associated with pathogenic variants in PCCA or PCCB gene. We investigated the potential pathogenic variants in PCCA or PCCB genes in Fujian Han population.Two probands and their families of Han ethnicity containing two generations were subject to newborn screening using tandem mass spectrometry, followed by diagnosis using urine gas chromatography mass spectrometry.

Gene spectrum and clinical traits of 10 patients with primary carnitine deficiency.

Background: Rare studies focused on the tandem mass spectrometry (MS/MS) findings for the primary carnitine deficiency (PCD) in the neonates in China mainland. In this study, we aim to analyze the gene mutation spectrum of PCD in Fujian Province in China mainland.

Methods: Primary carnitine deficiency (PCD) samples used in this study were selected from 95,453 cases underwent neonatal screening between May 2015 and February 2020.

A verification of the application of the non-derivatized mass spectrometry method in newborns screening of metabolic disorders.

It is required that the clinical screening of metabolic disorders in newborns meet International Organization for Standardization 15189-2012 approval. The new tandem mass spectrometry (MS/MS) based screening system and its companion reagent should be independently authenticated before their implementation in clinical diagnosis laboratories.Linearity, stability, accuracy, and precision evaluations were carried out to verify the performance of the Waters ACQUITY TQD MS/MS system with the NeoBase non-derivatized MS/MS PerkinElmer kit for detecting amino acids and acylcarnitine in newborns with metabolic disorders.

[Analysis of GCDH gene mutations in 3 patients from Fujian area with glutaric academia type I].

Objective: To explore clinical features and mutation types in patients from Fujian area with glutaric academia type I(GA I).

Methods: Serum acylcarnitine and urine organic acid of 3 patients were determined with tandem mass spectrometry and gas chromatographic mass spectrometry. The patients also underwent magnetic resonance imaging analysis for the cranial region.

[Analysis of CYP21A2 gene mutations among patients with classical steroid 21-hydroxylase deficiency].

Objective: To assess the frequencies of CYP21A2 gene mutations among patients from Fujian area with classical 21-hydroxylase deficiency.

Methods: For 19 probands from different families affected with classical steroid 21-hydroxylase deficiency and 74 family members, mutations of the CYP21A2 gene were analyzed with combined nested polymerase chain reaction, Sanger sequencing and multiplex ligation-dependent probe amplification. Time resolved fluorescence immunoassay was performed to determine the level of 17-hydroxyprogesterone (17-OHP) in all family members.

[Risk factors of 125 cases of neonatal congenital hypothyroidism during perinatal period].

Objective: To understand the relationship between perinatal factors and congenital hypothyroidism (CH) and provide scientific evidence for the prevention of CH.

Methods: A case-control study was conducted among 125 neonates with CH (case group) and 375 neonates without CH (control group) in Fujian Neonatal Screening Center from January in 2012 to December in 2013. Univariate and multivariate logistic regression analysis were performed to identify the risk factors to CH during perinatal period.

Pretreatment of apramycin wastewater by catalytic wet air oxidation.

The pretreatment technology of wet air oxidation (WAO) and coagulation and acidic hydrolysis for apramycin wastewater was investigated in this paper. The COD, apramycin, NH4+ concentration, and the ratio of BOD5/COD were analyzed, and the color and odor of the effluent were observed. WAO of apramycin wastewater, without catalyst and with RuO2/Al2O3 and RuO2-CeO2/Al2O3 catalysts, was carried out at degradation temperature of 200 degrees C and the total pressure of 4 MPa in a 1 L batch reactor.

Expression of a Ligninase by a New Hybrid Baculovirus with Expanded Host Range.

We have generated and purified a new recombinant baculovirus with expanded host range. AcNPV DNA and BamHI-digested BmNPV DNA were co-transfected into Spodoptera frugiperda SF21 cells. Progeny viruses were used to infect BmN cells, which are normally resistant to AcNPV infection, in order to screen for recombinant viruses with cross-infectivity.