Association Analysis of Gene Sequencing by NeoSeq Combined with Tandem Mass Spectrum and Four Neonatal Diseases.

Background: NeoSeq is a new method of gene sequencing for newborn screening. The goal is to explore the relationship between gene sequencing by NeoSeq combined with tandem mass spectrum (TMS) and four neonatal diseases.

Methods: A total of 1,989 newborns from August 2010 to December 2021 were enrolled.

A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China.

Background: Newborn screening (NBS) is an important and successful public health program that helps improve the long-term clinical outcomes of newborns by providing early diagnosis and treatment of certain inborn diseases. The development of next-generation sequencing (NGS) technology provides new opportunities to expand current newborn screening methodologies.

Methods: We designed a a newborn genetic screening (NBGS) panel targeting 135 genes associated with 75 inborn disorders by multiplex PCR combined with NGS.

FMR1 allele frequencies in 51,000 newborns: a large-scale population study in China.

Background: Fragile X syndrome (FXS), caused by CGG-repeat expansion in FMR1 promoter, is one of the most common causes of mental retardation. Individuals with full mutation and premutation alleles have a high risk of psychophysiological disorder and of having affected offspring. Frequencies of FMR1 alleles in general newborns have been reported in Caucasians but have not been investigated in the large-scale population in  the mainland of China.

Novel ACADVL variants resulting in mitochondrial defects in long-chain acyl-CoA dehydrogenase deficiency.

The pathogenesis of very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is highly heterogeneous and still unclear. Additional novel variants have been recently detected in the population. The molecular and cellular effects of these previously unreported variants are still poorly understood and require further characterization.

[Medium-chain acyl-CoA dehydrogenase deficiency: neonatal screening and follow-uP].

Objective: To investigate the epidemiological characteristics, phenotype, genotype, and prognosis of medium-chain acyl-CoA dehydrogenase deficiency (MCADD) in the Chinese population.

Methods: A retrospective analysis was performed for the clinical data of the neonates who underwent screening with high-performance liquid chromatography-tandem mass spectrometry from January 2009 to June 2018 and were diagnosed with MCADD by gene detection.

Results: A total of 2 674 835 neonates underwent neonatal screening, among whom 12 were diagnosed with MCADD.

Indicators of child health, service utilization and mortality in Zhejiang Province of China, 1998-2011.

Objective: To investigate the levels of primary health care services for children and their changes in Zhejiang Province, China from 1998 to 2011.

Methods: The data were drawn from Zhejiang maternal and child health statistics collected under the supervision of the Health Bureau of Zhejiang Province. Primary health care coverage, hospital deliveries, low birth weight, postnatal visits, breastfeeding, underweight, early neonatal (<7 days) mortality, neonatal mortality, infant mortality and under-5 mortality were investigated.

Under 5 mortality rate and its contributors in Zhejiang Province of China from 2000 to 2009.

Objective: By analyzing the under 5 mortality rate (U5MR) and its contributors in Zhejiang Province of China from 2000 to 2009, we tried to understand the trend of U5MR change in Zhejiang Province and thus propose strategies to reduce child mortality.

Methods: Thirty cities/counties/districts from Zhejiang Province were selected using stratified cluster sampling approach. Children under five years in these areas were enrolled as the subjects.

Newborn screening in Zhejiang, China.

Background: It has been 11 years since newborn screening started in Zhejiang in 1999. The aim of this study was to analyze and summarize the status of newborn screening in Zhejiang from 1999 to 2009.

Methods: Blood samples were collected from the heels of newborns 72 hours after birth.

[The under-five mortality rate and the causes of death in Zhejiang Province between 2000 and 2009].

Objective: To study the under-five mortality rate and the causes of death in Zhejiang Province between 2000 and 2009 in order to provide a basis for reducing the mortality rate in the region.

Methods: By stratified random cluster sampling, all the children under 5 years old from 30 sampling areas of Zhejiang Province between 2000 and 2009 were enrolled. The under-five mortality rate and the leading causes of death were investigated by descriptive analysis and Chi-square test.

Diagnosis and treatment of subclinical hypothyroidism detected by neonatal screening.

Background: This study was undertaken to explore the clinical outcome and prognosis of subclinical hypothyroidism detected by newborn screening.

Methods: Newborn screening was conducted at 1156 health care institutions in Zhejiang Province from October 1999 to September 2006. Included were (1) infants who had thyroid-stimulating hormone (TSH) ≥ 20 mU/L, and normal or lower normal levels of triiodothyronine (T(3)) and thyroxine (T(4)) and (2) infants with TSH between 5.

[Observation time for drug administration and withdrawal in the treatment of children with congenital hypothyroidism].

Objective: To study the best observation time for drug administration and withdrawal in the treatment of children with transient congenital hypothyroidism,seeking an objective basis for the safe drug withdrawal.

Methods: Levothyroxine was prescribed for 1 144 children diagnosed with congenital hypothyroidism (CH) and according to the results levothyroxine was adjusted to a maintenance dosage. Examinations were performed periodically including physical and mental development, thyroid ultrasonography,and blood levels of T3, T4, TSH.

[Correlation of congenital hypothyroidism with birth weight and gestational age in newborn infants].

Objective: To investigate the correlation of congenital hypothyroidism (CH) with birth weight and gestational age in newborn infants.

Methods: The screening of CH was conducted in all the live births in 2005 of Zhejiang Province, the blood samples were collected from heel stick. The thyroid stimulating hormone (TSH) was measured by time-resolved fluorescence immunoassay (TRFIA).

[Analysis of blood lead levels of preschool children in Zhejiang Province with historical comparison].

Objective: To know the blood lead levels (BLL) of preschool children in Zhejiang Province between 1997 to 2003.

Methods: The BLL of preschool children was investigated in this province with cluster sampling in 2003, and compared with the results with that of 1997. The BLL was determined with graphite oven atom absorption spectrography method.

Treatment and follow-up of children with transient congenital hypothyroidism.

Objective: To study the clinical therapy and prognosis in children with transient congenital hypothyroidism (CH).

Methods: Fifty-seven children with CH diagnosed after neonatal screening were treated with low-dosage levothyroxine (L-T4). Follow-up evaluation included the determination of TT3, TT4 and TSH serum levels and the assessment of thyroid gland morphology, bone age, growth development and development quotients (DQ).

[Screening for congenital hypothyroidism in neonates of Zhejiang Province during 1999-2004].

Objective: To analyze the data of screening for congenital hypothyroidism (CH) newborns in Zhejiang Province during 1999-2004.

Methods: The dried blood samples were collected on filter paper. The levels of thyroid-stimulating hormone (TSH) were measured by time-resolved fluoroimmunoassay, and the serum levels of TSH, triiodothyronine (T(3)) and thyroxine (T(4)) were detected by chemiluminescence.

[Mechanism for apoptosis of hippocampus neuron induced by hypothyroidism in perinatal rats].

Objective: To investigate the mechanism for the apoptosis of hippocampus neuron induced by hypothyroidism in perinatal rats.

Methods: Hypothyroidism was induced by administration of propylthiouracil (PTU, 50 mg/d) solution to the dams from gestational day 15 by gavage. Pups from both hypothyroid and control groups were harvested at 1, 5, 10 and 15d, respectively.

Study on the neurotoxic effects of low-level lead exposure in rats.

Objective: To investigate effects of developmental lead exposure on nitric oxide synthase (NOS) activity in different brain regions and on N-methyl-D-aspartate (NMDA) receptor mRNA expression in the hippocampus of rats. On the basis of these observations, we explored possible mechanisms by which lead exposure leads to impaired learning and memorizing abilities in children.

Methods: A series of rat animal models exposed to low levels of lead during the developing period was established (drinking water containing 0.

[Low initial dose of levothyroxine for treatment of congenital hypothyroidism].

Objective: To evaluate the results of treatment of infants with congenital hypothyroidism (CH) with a low initial dosage of levothyroxine.

Methods: 138 newborns with primary CH detected by neonatal screening were divided into 3 groups according to levels of serum TSH, TT(3) and TT(4): sub-clinical CH (TSH >50 mU/L), mild CH (TT(4) <54 nmol/L), severe CH (TT(4)<54 nmol/L and TT(3)<1.2 nmol/L).

Effect of lead exposure on the immune function of lymphocytes and erythrocytes in preschool children.

Objective: To investigate the influence of lead exposure on the immune function of lymphocytes and erythrocytes in preschool children.

Materials And Methods: A group of 217 children three to six years of age from a rural area were given a thorough physical examination and the concentration of lead in blood samples taken from each subject was determined. The indices of lymphocyte immunity (CD+3CD+4, CD+3CD+8, CD+4CD+8, CD-3CD+19) and erythrocyte immunity (RBC-C3b, RBC-IC, RFER, RFIR, CD35 and its average fluorescence intensity) of 40 children with blood lead levels above 0.