Objective: To investigate prenatal manifestations of Emanuel syndrome (ES) by retrospectively analyzing the results of prenatal diagnosis.
Methods: Thirteen fetuses were collected from five hospitals, of which six were confirmed with 47,der(22)t(11;22; ES) by karyotype and chromosomal microarray analysis (CMA). Seven were diagnosed with 46,t(11;22) balanced translocations by karyotype, including one de novo mosaic 46,XX,t(11;22).
Background: In the development of artificial intelligence in ophthalmology, the ophthalmic AI-related recognition issues are prominent, but there is a lack of research into people's familiarity with and their attitudes toward ophthalmic AI. This survey aims to assess medical workers' and other professional technicians' familiarity with, attitudes toward, and concerns about AI in ophthalmology.
Methods: This is a cross-sectional study design study.
Cervical cancer (CC) patients have a poor prognosis due to the high recurrence rate. However, there are still no effective molecular signatures to predict the recurrence and survival rates for CC patients. Here, we aimed to identify a novel signature based on three types of RNAs [messenger RNA (mRNAs), microRNA (miRNAs), and long non-coding RNAs (lncRNAs)].
View Article and Find Full Text PDFAims: The lack of primary ophthalmologists in China results in the inability of basic-level hospitals to diagnose pterygium patients. To solve this problem, an intelligent-assisted lightweight pterygium diagnosis model based on anterior segment images is proposed in this study.
Methods: Pterygium is a common and frequently occurring disease in ophthalmology, and fibrous tissue hyperplasia is both a diagnostic biomarker and a surgical biomarker.
Objective: To study the association between single-nucleotide polymorphism (SNP) of long-chain non-coding RNA steroid receptor RNA activator (lncRNA SRA1) gene and polycystic ovary syndrome (PCOS) susceptibility.
Methods: Sanger sequencing was used to analyze the genotypes of the lncRNA SRA1 gene rs801460, rs10463297, and rs250426 in 315 PCOS patients and 315 control groups.
Results: There was no correlation between lncRNA SRA1 gene rs801460, rs250426 SNP, and PCOS susceptibility (p > 0.
Background: Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive lipid disorder often associated with recurrent episodes of pancreatitis. It is documented in most cases with FCS due to the mutations of key proteins in lipolysis, including LPL, APOC2, APOA5, LMF1 and GPIHBP1.
Case Presentation: We report the successful management of a 35-year-old pregnant woman carrying a novel homozygous frameshift mutation c.