Background Children with germline mutations in TLR3, UNC93B1, TRAF3 and STAT1 are prone to herpes simplex virus-1 (HSV-1) encephalitis (HSE), owing to impaired TLR3-triggered, UNC-93B-dependent, interferon (IFN)-α/β and/or -λ-mediated STAT1-dependent immunity. Objective We explore here the molecular basis of the pathogenesis of HSE in a child with a hypomorphic mutation in NEMO, which encodes the regulatory subunit of the IκB kinase (IKK) complex. Methods The TLR3 signaling pathway was investigated in the patient's fibroblasts by analyses of IFN-β, -λ, and IL-6 mRNA and protein levels, by quantitative PCR and ELISA, respectively, upon TLR3 stimulation (TLR3 agonists or TLR3-dependent viruses). NF-κB activation was assessed by EMSA and IRF-3 dimerization on native gels after stimulation with a TLR3 agonist. Results The patient's fibroblasts displayed impaired responses to TLR3 stimulation in terms of IFN-β, -λ, and IL-6 production, owing to impaired activation of both NF-κB and IRF-3. Moreover, vesicular stomatitis virus (VSV), a potent IFN-inducer in human fibroblasts, and HSV-1, induced only low levels of IFN-β and -λ in the patient's fibroblasts, resulting in enhanced viral replication and cell death, as reported for UNC-93B-deficient fibroblasts. Conclusion HSE may occur in patients carrying NEMO mutations, due to the impairment of NF-κB- and IRF-3-dependent-TLR3-mediated antiviral IFN production.

In this cohort, children with a greater near work load at baseline exhibited more myopic refractive change and were also more likely to develop myopia. The protective effect of outdoor activity on myopic refractive change was not observed.

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BackgroundThis study evaluates patients with congenital aniridia and cataract who underwent phacoemulsification, capsular tension ring placement, and foldable intraocular lens implantation.MethodsIn this prospective case series, 10 patients (17 eyes) underwent cataract surgery via a 3.2 mm clear corneal incision. A continuous circular capsulorhexis with <6 mm diameter was employed. A capsular tension ring and HOYA yellow foldable posterior chamber intraocular lens was implanted. All patients wore color contact lenses postoperatively. Paired t test was used to compare visual acuity, intraocular pressure, and corneal endothelial changes before and after surgery.ResultsA single surgeon performed all surgeries. The best-corrected visual acuity improved from value 1.03 ± 0.27LogMAR preoperatively to value 0.78 ± 0.26LogMAR postoperatively (p = 0.000). The photophobic symptoms improved significantly after surgery. The mean corneal endothelial cell density before and after surgery was 3280 ± 473 cells/mm2 and 2669 ± 850 cells/mm2, respectively (p = 0.006). None of the patients developed corneal endothelial decompensation or secondary glaucoma after surgery.ConclusionsTreatment of congenital aniridia and coexistent cataract by phacoemulsification, posterior chamber foldable lens implantation, capsular tension ring placement was safe and effective. Use of colored contact lenses in the postoperative period can reduce photophobic symptoms in this group of patients.Trial registration ChiCTR-OOC-17011638 (retrospectively registered at 12,June,2017)