[Investigation of influencing factors and reference ranges for thyroid function in hospitalized preterm infants at the age of 7 days].

Objectives: To investigate the influencing factors and reference ranges for thyroid function in preterm infants at the age of 7 days, with the aim of avoiding unnecessary clinical reexamination and intervention.

Methods: A retrospective analysis was performed for the data of 685 preterm infants from January 2020 to January 2023. According to gestational age and birth weight, they were divided into a high-risk group (gestational age <34 weeks or birth weight<2 000 g; 228 infants) and a low-risk group (gestational age ≥34 weeks and birth weight ≥2 000 g;457 infants).

[Molecular diagnosis of children with unexplained intellectual disability/ developmental delay by array-CGH].

Objective: To analyze the potential pathogenic genomic imbalance in children with unexplained intellectual disability (ID) and/or developmental delay (DD) and its association with phenotypes, and to investigate the value of array-based comparative genomic hybridization (array-CGH) in clinical molecular genetic diagnosis.

Methods: The whole genome of 16 children with ID/DD was scanned by the array-CGH for detection of genomic copy number variations (CNVs), and the revealed genomic imbalance was confirmed by multiplex ligation-dependent probe amplification.

Results: G-band karyotyping of peripheral blood cells showed no abnormalities in the 16 children.

Whole dystrophin gene analysis by next-generation sequencing: a comprehensive genetic diagnosis of Duchenne and Becker muscular dystrophy.

Duchenne/Becker muscular dystrophies are the most frequent inherited neuromuscular diseases caused by mutations of the dystrophin gene. However, approximately 30% of patients with the disease do not receive a molecular diagnosis because of the complex mutational spectrum and the large size of the gene. The introduction and use of next-generation sequencing have advanced clinical genetic research and might be a suitable method for the detection of various types of mutations in the dystrophin gene.

[Congenital central hypoventilation syndrome, report of three cases].

Objective: To evaluate clinical characteristics and PHOX2B gene mutations in congenital central hypoventilation syndrome (CCHS) and to facilitate the early diagnosis and management of CCHS and reduce the misdiagnosis.

Method: Clinical data of 3 infants with CCHS who had recurrent respiratory failure episodes and dependent on mechanical ventilation support in 3 from March 2008 to April 2012 were analyzed, and blood gas analysis was performed respectively in the awaken and sleeping status. Gene sequencing was used for detection of PHOX2B gene mutation.

The SEPS1 G-105A polymorphism is associated with risk of spontaneous preterm birth in a Chinese population.

Inflammation plays an important role in the etiology and pathophysiology of spontaneous preterm birth (SPTB), and selenoprotein S (SEPS1) is involved in regulating the inflammatory response. Recently the G-105A promoter polymorphism in SEPS1 was shown to increase pro-inflammatory cytokine expression. We examined whether this functional polymorphism was related to the risk of SPTB in a Chinese population.

[Clinical and molecular genetic analysis for a patient with glycogen storage disease Ⅰa].

Objective: To investigate the mutation of glucose-6-phosphatase gene (G6PC gene) in a patient with glycogen storage disease Ⅰa.

Methods: PCR was used to amplify all five exons of G6PC gene. The PCR products were directly sequenced to detect the mutations.

[Value of methylation-specific mutiplex ligation-dependent probe in the diagnosis of Prader-Willi syndrome].

Objective: Prader-Willi syndrome (PWS) with different pathogenesis has different clinical manifestations, prognosis and genetic risks. Pathogenesis of the disease cannot be explained by conventional diagnostic method MS-PCR. This study employed methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) for the diagnosis of PWS in order to explore the role of this method in the diagnosis and assessment of pathogenesis of PWS.

[Clinical application of proportional assist ventilation in very low birth weight infants with ventilator dependence].

Objective: To study the effect of proportional assist ventilation (PAV) on physiology and respiratory mechanics in very low birth weight (VLBW) infants with ventilator dependence by comparison with conventional assist/control (A/C) ventilation.

Methods: Forty-six infants with ventilator dependence were randomly divided into two groups according to the ventilation model: PAV (n=23) and A/C (n=23). The gain of resistive and elastic unloading was set based on the runway method in the PAV group.

[Chromosome analysis in 92 children with congenital mental retardation].

Objective: To explore the chromosome karyotypes in children with mental retardation.

Methods: The peripheral blood lymphocytes from 92 children with congenital mental retardation were cultured and analysed by the G-band technique.

Results: Of the 92 cases, 43 cases (47%) showed chromosome abnormalities.

A novel RSK2 (RPS6KA3) gene mutation associated with abnormal brain MRI findings in a family with Coffin-Lowry syndrome.

Coffin-Lowry syndrome (CLS) is an X-linked mental retardation syndrome caused by defects in the RSK2 gene. We have identified a CLS family with four patients in two generations. The patients in this family, a mother and her three children (a male and two females), all have severe mental retardation with the typical CLS phenotype.

Development of a molecular screening test for hereditary hearing loss and genetic susceptibility to aminoglycoside toxicity for Chinese population.

Objective: To develop a molecular screening test for genetic defects on hearing loss related genes has significant impacts on early identification of hereditary hearing loss and genetic susceptibility to aminoglycoside ototoxicity. Early identification of pre-lingual hearing loss is very important for patient' s language development, academic achievement, and social skill. Two common mutations, the 235delC in GJB2 gene and the mutation A1555G in mitochondrial DNA, are included in the newly developed screening panel for Chinese population.