A 3-year-old girl presented with congenital orbital fibrosis. We performed molecular genetic analysis by whole exome and mitochondrial genome sequencing. No pathologic mutation was identified in the present case. To our best knowledge, this study presents the first report on the findings of mutational analysis of a patient with congenital orbital fibrosis.
Child, Preschool ; DNA Mutational Analysis ; Exome ; Female ; Fibrosis* ; Genome, Mitochondrial* ; Humans ; Molecular Biology* ; Orbit*

Purpose: To compare serum selenium levels in Graves patients and non-Graves control participants and to evaluate associations between serum selenium levels and clinical features of Graves orbitopathy (GO). Methods: We conducted a single-center, retrospective case-control study among 33 patients with Graves disease without GO (GD), 31 patients with diagnosed GO, and 27 unaffected healthy participants enrolled between 2013 and 2020 at Severance Hospital. We compared serum selenium concentrations between the GD, GO, and healthy control groups, and analyzed associations between serum selenium and GO patients’ clinical activity scores, severity (assessed through modified NOSPECS scores), and other clinical features using multivariate linear regression analysis. Results: Mean serum selenium levels were 109.30 ± 16.39, 111.39 ± 14.04, and 126.09 ± 21.09 ng/mL in GO patients, GD patients, and healthy control participants, respectively. Mean serum selenium levels in Graves patients with and without orbitopathy were significantly lower than those in the healthy control group (p < 0.05), and mean selenium levels were slightly lower in GO than those in GD patients (p = 0.594). Serum selenium levels were significantly lower in GO patients with eyelid retraction than in patients without retraction (p = 0.038). However, serum selenium levels were not associated with clinical activity scores and modified NOSPECS scores (p = 0.241 and 0.801, respectively). Conclusions Serum selenium levels were significantly lower in Graves patients with or without GO, compared to non-Graves control participants. Selenium levels were not associated with clinical activity scores or NOSPECS scores, though we observed an association with eyelid retraction.

PURPOSE: To describe cases of exposed hydroxyapatite (HA) implants wrapped with the synthetic dura substitute Neuro-Patch treated via simple Neuro-Patch removal. METHODS: The medical records of seven patients who experienced exposure of their HA implant were reviewed. All patients had been enucleated and implanted with HA wrapped with Neuro-Patch. For treatment, Neuro-Patch was removed to the greatest extent possible. After applying local anesthesia with lidocaine, blunt dissection was performed to separate the conjunctiva and Neuro-Patch via the site of exposure. Pressure was applied to the remaining Neuro-Patch with forceps and removed with scissors. RESULTS: Neuro-Patch was visible at the area of exposure in all patients. No surgery beyond initial Neuro-Patch removal was necessary in six of the seven patients. In five cases, the exposed area began to heal rapidly after Neuro-patch removal without primary closure of the defect. In one case, the Neuro-Patch material and all necrotic tissue was removed aggressively due to inflammation around the orbital implant. Lastly, an infection was noted in one case, prompting complete removal of the Neuro-Patch–wrapped HA implant. CONCLUSIONS: Wrapping material may hinder implant vascularization. Exposure of HA in wrapped implants can be successfully treated by a simple removal procedure if detected and managed early.
Anesthesia, Local ; Conjunctiva ; Durapatite ; Humans ; Inflammation ; Lidocaine ; Medical Records ; Orbit ; Orbital Implants ; Surgical Instruments

Purpose: Orbital fibroblasts play key roles in the pathogenesis of Graves’ orbitopathy (GO), and previous findings have shown that endoplasmic reticulum (ER) stress and autophagy also contribute to GO. In this study, we investigated the presently unclear roles of inositol-requiring enzyme 1 (IRE1) and related autophagy processes in the pro-fibrotic mechanism of GO. Materials and Methods: Orbital adipose/connective tissues were obtained from eight GO patients and six normal individuals during surgery. GO fibroblasts were transfected with IRE1 small-interfering RNA and treated with bafilomycin A1 (Baf-A1) to evaluate the inhibitory effects of ER stress and autophagy, and protein-expression levels were analyzed through western blotting after stimulation with transforming growth factor (TGF)-β. Results: TGF-β stimulation upregulated IRE1 in GO orbital fibroblasts, whereas silencing IRE1 suppressed fibrosis and autophagy responses. Similarly, Baf-A1, an inhibitor of late-phase autophagy, decreased the expression of pro-fibrotic proteins. Conclusion IRE1 mediates autophagy and the pro-fibrotic mechanism of GO, which provides a more comprehensive interpretation of GO pathogenesis and suggests potential therapeutic targets.

A case with carcinoid tumor of the appendix was encountered incidentally during an elective abdominal surgery for borderline mucinous ovarian tumor in a 16-year old female. Carcinoid tumor of appendix is the most common neoplasm of the gastrointestinal tract in childhood and adolesence. They are usually regarded as a benign neoplasm and an uncommon source of metastasis and recurrence. We report this case with reference to the value of grosss examination of the appendix and incidental appendectomy during gynecologic abdominal operations.
Adolescent ; Appendectomy ; Appendix* ; Carcinoid Tumor* ; Female ; Gastrointestinal Tract ; Humans ; Mucins* ; Neoplasm Metastasis ; Recurrence

Purpose: We sought to evaluate the safety and effectiveness of patient-specific ocular prostheses produced by three-dimensional (3D) printing and the sublimation technique. A comparison with prostheses produced using manual manufacturing methods was then performed. Methods: To confirm the biological and physiochemical safety, cytotoxicity, systemic acute toxicity, intradermal reaction, and skin sensitization tests were conducted according to the International Organization for Standardization guidelines. The compressive strength of the prostheses was also tested. Further, a case series of three patients who wore the 3D printed prostheses for more than eight hours daily for 4 weeks was executed. Self-assessments by these individuals using a questionnaire and safety evaluations focusing on the occurrence of conjunctival inflammation or allergic reactions according to the Cornea and Contact Lens Research Unit criteria by slit-lamp examination and similarity assessment were completed. Results: The 3D printed ocular prostheses met the necessary qualifications per the biological and physiochemical safety tests, showing the absence of cytotoxicity, acute systemic toxicity, intradermal reactivity, and skin-sensitizing potency. Also, there was no difference in strength test results between previous ocular prostheses and the 3D printed ones. Self-assessment by the patients yielded satisfactory results, with no significant difference in the level of satisfaction reported for the 3D printed and previous handmade ocular prostheses. The 3D printed prosthesis did not trigger any side effects in the conjunctival sac and showed similar objective findings with respect to the color of the iris, sclera, and vessel patterns. Conclusions Our study confirms the biologic and physiochemical safety of 3D-printed ocular prostheses created using computer-aided design technology and a sublimation technique. The patients’ questionnaires and the judgment of the ophthalmologists/ocularists showed that the 3D printed ocular prosthesis was acceptable in function and appearance through a case series report.