HB patients GENOMIC STUDY TRANSCRIPTOMIC STUDY METHYLATION STUDY CytoScan HD ®-array RNA-sequencing/ ddPCR HTA ®-array/ RT-qPCR 850K (EPIC)-array/ QUAlu Dysregulation of global RNA & BLCAP editing Overexpression of 14q32 DLK1-DIO3 genes 16 + VIM-gene signature (C1/C2/C2B) 2 epigenomic HB subtypes (Epi-CA & Epi-CB) CLINICAL PARAMETERS: prognostic marker identification Poor prognostic factors:-4q,-18, 17q11.2 AI (NF1) CHKA new therapeutic target Molecular risk stratification MRS1 MRS2 MRS3 Strong 14q32 Epi-CB Time Survival Highlights Hepatoblastoma (HB) involves global dysregulation of RNA editing, including in the tumor suppressor BLCAP. Overexpression of a 300 kb region within the 14q32 DLK1/DIO3 locus is a new hallmark of HB. We identified 2 epigenomic HB subtypes-Epi-CA and Epi-CB-with distinct degrees of DNA hypomethylation and CpG island hypermethylation. The molecular risk stratification of HB, based on the 14q32-signature and epigenomic subtypes, is associated with patient outcomes. The enzyme CHKA could be a novel therapeutic target for patients with HB.
Parasitic infections may damage various ocular tissues, thereby causing visual dysfunction. In 1950, Wilder described the first case in which larval forms of nematodal intestinal roundworms (Ascaridoidea: Ascaris, Toxocara, Ancylostoma, Necator, and Strongyloides) were implicated as a cause of intraocular disease. This review focuses on two disorders associated with parasitic infections: ocular toxocariasis and diffuse unilateral subacute neuroretinitis.
Rhegmatogenous retinal detachment after LASIK for the correction of myopia is infrequent. If managed promptly, RRD will result in good vision. Before LASIK is performed, patients should have a thorough dilated indirect fundoscopy with scleral depression and treatment of any retinal lesion predisposing to the development of an RRD.
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