[Clinical and molecular genetic analysis of a child with comorbid 16p11.2 microdeletion syndrome and Rett syndrome].

Objective: To explore the genetic characteristics of a child with comorbid 16p11.2 microdeletion syndrome and Rett syndrome (RTT).

Methods: A male infant who was admitted to Gansu Provincial Maternity and Child Health Care Hospital in May 2020 was selected as the study subject.

[Genetic analysis of eighteen patients from Gansu Province with Tetrahydrobiopterin deficiency].

Objective: To explore the genetic basis of eighteen patients with Tetrahydrobiopterin deficiency (BH4D) from Gansu Province.

Methods: Eighteen patients diagnosed with BH4D at Gansu Provincial Maternal and Child Health Care Hospital from January 2018 to December 2021 were selected as the study subjects. Whole exome sequencing was carried out, and candidate variants were verified by Sanger sequencing.

[Clinical features and genetic analysis of a child with 3-methylglutenedioic aciduria type VII due to novel variants of CLPB gene].

Objective: To explore the clinical features and genetic basis for a child with 3-methylglutaconic aciduria type VII.

Methods: A child who was diagnosed at the Gansu Provincial Maternity and Child Health Care Hospital on August 9, 2019 was selected as the study subject. Clinical data of the child, including urine gas chromatography and mass spectrometry, were collected.

[Prenatal diagnosis for a fetus with Walker-Warburg syndrome].

Objective: To explore the genetic etiology for a fetus with Walker-Warburg syndrome(WWS).

Methods: A fetus with WWS diagnosed at Gansu Provincial Maternity and Child Health Care Hospital in June 9, 2021 was selected as the study subject. Genomic DNA was extracted from amniotic fluid sample of the fetus and peripheral blood samples from its parents.

Association of air pollution with outpatient visits for respiratory diseases of children in an ex-heavily polluted Northwestern city, China.

Background: A great number of studies have confirmed that children are a particularly vulnerable population to air pollution.

Methods: In the present study, 332,337 outpatient visits of 15 hospitals for respiratory diseases among children (0-13 years), as well as the simultaneous meteorological and air pollution data, were obtained from 2014 to 2016 in Lanzhou, China. The generalized additive model was used to examine the effects of air pollutants on children's respiratory outpatient visits, including the stratified analysis of age, gender and season.