[Screening for Duchenne muscular dystrophy in newborns in the Ningxia region].

Objectives: To evaluate the incidence rate of Duchenne muscular dystrophy (DMD) in the male newborns in the Ningxia region and establish a critical threshold for screening DMD in newborns to distinguish between the normal population and affected individuals.

Methods: A total of 10 000 male newborns were screened using immunofluorescence analysis of creatine kinase isoenzyme concentrations in heel spot dried blood specimens. Newborns with the concentrations higher than the critical threshold were recalled for serum creatine kinase measurements.

Identification of gene mutations in six Chinese patients with maple syrup urine disease.

Maple syrup urine disease (MSUD) is a rare autosomal recessive amino acid metabolic disease. This study is to identify the pathogenic genetic factors of six cases of MUSD and evaluates the application value of high-throughput sequencing technology in the early diagnosis of MUSD. Clinical examination was carried out for patients and used blood tandem mass spectrometry (MS/MS), urine gas chromatography-mass spectrometry (GC/MS), and the application of high-throughput sequencing technology for detection.

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.

Clinical significance of miR-139-5p and FGF2 in ovarian cancer.

Purpose: To estimate the expression and clinical significance of miR-139-5p and fibroblast growth factor 2 (FGF2) in ovarian cancer (OC).

Methods: Of the 198 female patients undergoing surgical treatment in our hospital, 101 patients with ovarian tumor resection were allocated in a study group and 97 with ovarian resection for benign lesions were allocated in a control group. MiR-139-5p and FGF2 expression was quantified, and associations between miR-139-5p and FGF2 and clinicopathological features of OC were analyzed, as well as their diagnostic performances (receiver operating characteristic (ROC) curve).

Ethnic preference distribution of inborn errors of metabolism: A 4-year study in a multi-ethnic region of China.

Chinese newborns have been screened for inborn errors of metabolism (IEM) for over 20 years. Although China features 56 different ethnic groups, there are no specific data describing the incidence of such genetic errors across difference ethnicities. To understand the ethnic preference distribution of the incidence and variants of IEM in the Ningxia Hui Autonomous Region of China, 189,354 newborns from 2016 to 2019 were screened by tandem mass spectrometry, including 87,482 from the Han ethnic population, 88,229 from the Hui population, 1,103 from other ethnicities, and 12,540 infants without ethnic registration.

[Screening and follow-up treatment of 160 046 neonates with congenital adrenal hyperplasia in Ningxia, China].

Objective: To investigate the incidence of congenital adrenal hyperplasia (CAH) and treatment outcomes in neonates in Ningxia, China.

Methods: The clinical data of CAH screening for 160 046 neonates who were born in midwifery institutions in Ningxia from July 2014 to March 2016 were analyzed.

Results: Among the 160 046 neonates who underwent CAH screening, 70 (0.

[Analysis of mutations in exon 7 of phenylalanine hydroxylase gene among children with phenylketonuria in Ningxia, China].

Objective: To investigate the type and frequency of mutations in exon 7 of phenylalanine hydroxylase (PAH) gene among children with phenylketonuria (PKU) in Ningxia, China and to provide a basis for the genetic diagnosis and prenatal diagnosis of PKU in this region.

Methods: Direct sequencing of PCR product was performed to analyze the sequences of exon 7 and its flanking introns of 146 PAH alleles in 73 children with typical PKU (39 cases of Hui nationality and 34 cases of Han nationality) in Ningxia.

Results: Six mutations were detected, including R243Q (14.

[Analysis for phenylalanine hydroxylase gene mutations in 35 ethnic Hui children from Ningxia with phenylketonuria].

Objective: To determine the type and frequency of phenylalanine hydroxylase gene (PAH) mutations in ethnic Hui patients from Ningxia with phenylketonuria (PKU).

Methods: For 35 PKU children patients and 50 healthy individuals, all exons and promoters of the PAH gene were analyzed with PCR and direct sequencing.

Results: Twenty mutations, including 8 missense mutations (40%), 5 nonsense mutations (25%), 4 splice site mutations (20%) and 3 deletion mutants (15%) were discovered.

[Growth status of children under 7 years in Wuzhong City, Ningxia Hui Autonomous Region, China and its influential factors].

Objective: To investigate the growth status of children under 7 years in Wuzhong City, Ningxia Hui Autonomous Region, China and its influential factors, and to provide a basis for related intervention measures.

Methods: Children under 7 years were selected from two county-level districts in Wuzhong by stratified cluster sampling, and their growth status were evaluated by the Z score method.

Results: The prevalence rates of growth retardation, underweight, and wasting were 12.