Publications by authors named "Zixun Song"

Aim: To provide comprehensive data on nonmetallic intraorbital foreign bodies (IOFBs) by summarizing and analyzing material types, clinical manifestations, imaging features, and treatment strategies.

Methods: Totally 28 nonmetallic IOFB cases treated at Shengjing Hospital of China Medical University from 2012 to 2020 were retrospectively reviewed. The types of foreign bodies, clinical features, imaging manifestations, and treatment outcomes were analyzed.

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Article Synopsis
  • Congenital cataract (CC) and congenital heart disease (CHD) often occur together, affecting a significant percentage of patients; in a study of 334 CC patients, 41.13% also had CHD.
  • Patients with both CC and CHD had a higher incidence of preterm births and Down's syndrome, with atrial septal defect being the most common heart defect observed.
  • Genomic analysis, including microarray and whole-exome sequencing in 10 families, revealed 52 genomic alterations tied to CC and CHD, with many being de novo variants.
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Purpose: To evaluate the different ocular outcomes and the potential factors affecting visual acuity in bilateral congenital cataracts and developmental cataracts after intraocular lens implantation in preschool children.

Methods: In a retrospective study, 86 eyes (51 congenital and 35 developmental cataract cases) of 43 children aged 6 years and younger who were diagnosed as having bilateral cataracts and underwent cataract aspiration combined with primary or secondary foldable intraocular lens implantation between 2003 and 2018 were reviewed. A minimum of 1 year of follow-up was required.

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The transcription factor v-maf avain musculoaponeurotic fibrosarcoma oncogene homolog (MAF) plays an important role in lens development. It contains a unique extended homology region (EHR) in the DNA binding domain. MAF mutations are associated with phenotypically distinct forms of congenital cataract and show different effects on the transactivation of target genes.

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Background: Congenital cataract is the leading cause of blindness in children worldwide. Approximately half of all congenital cataracts have a genetic basis. Protein aggregation is the single most important factor in cataract formation.

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Objective: To investigate a novel insertion variant of CRYGD identified in a Chinese family with nuclear congenital cataract.

Methods: A Chinese family with congenital nuclear cataract was recruited for the mutational screening of candidate genes by direct sequencing. Recombinant N-terminal Myc tagged wildtype or mutant CRYGD was expressed in HEK293T cells.

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Purpose: Our aim was to obtain a better understanding of the etiologies and characteristics of pediatric cataracts treated at a single facility in China.

Methods: Medical records accrued over a 10-year period (from August, 2003 to July, 2013) at Shengjing Hospital of China Medical University were reviewed retrospectively, identifying all patients treated for various subtypes of pediatric cataract. A database with 367 subjects under 14 years of age (598, including second-round surgeries) was generated.

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Purpose: To detect the causative mutation for congenital posterior polar cataracts in a five-generation Chinese family and further explore the potential pathogenesis of this disease.

Methods: Coding exons, with flanking sequences of five candidate genes, were screened using direct DNA sequencing. The identified mutations were confirmed by restriction fragment length polymorphism (RFLP) analysis.

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