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Components in neural implants, such as the electrode array and stimulator circuit, are often fabricated discretely. This modular fabrication scheme offers flexibility during development but poses difficulties during assembly, as components must be compactly integrated for implantation. It is particularly difficult in cases where the electrode array is required to have a high number of channels, such as in retinal prostheses. This paper presents the development of a parylene C‐based, double‐sided microelectrode array with 294 hemispheric electrodes for subretinal stimulation. The bonding pads on the bottom side of the double‐sided array are connected with electrodes through vias, eliminating the interconnection lines. The array can be integrated with a stimulator circuit through pad‐to‐pad bonding, resulting in a compact implant. The hemispheric electrodes are fabricated using thermally reflowed photoresist infillings, through which the height and width of the hemispheres can be easily controlled. The long‐term stability and biocompatibility of the materials and methods used to fabricate and package the electrodes are demonstrated in in vitro and in vivo environments over months. Finally, subretinal stimulation by the developed electrodes is successfully demonstrated using in vitro retinal patches from mice and monkeys. [ABSTRACT FROM AUTHOR]

Postsynthetic modifications (PSMs) of metal–organic frameworks (MOFs) play a crucial role in enhancing material performance through open metal site (OMS) functionalization or ligand exchange. However, a significant challenge persists in preserving open metal sites during ligand exchange, as these sites are inherently bound by incoming ligands. In this study, for the first time, we introduced alkoxides by exchanging bridging chloride in Ni2Cl2BTDD (BTDD=bis (1H‐1,2,3,–triazolo [4,5‐b],–[4′,5′‐i]) dibenzo[1,4]dioxin) through PSM. Rietveld refinement of synchrotron X‐ray diffraction data indicated that the alkoxide oxygen atom bridges Ni(II) centers while the OMSs of the MOF are preserved. Due to the synergy of the existing OMS and introduced functional group, the alkoxide‐exchanged MOFs showed CO2 uptakes superior to the pristine MOF. Remarkably, the tert‐butoxide‐substituted Ni_T exhibited a nearly threefold and twofold increase in CO2 uptake compared to Ni2Cl2BTDD at 0.15 and 1 bar, respectively, as well as high water stability relative to the other exchanged frameworks. Furthermore, the Grand Canonical Monte Carlo simulations for Ni_T suggested that CO2 interacts with the OMS and the surrounding methyl groups of tert‐butoxide groups, which is responsible for the enhanced CO2 capacity. This work provides a facile and unique synthetic strategy for realizing a desirable OMS‐incorporating MOF platform through bridging ligand exchange. [ABSTRACT FROM AUTHOR]

Postsynthetic modifications (PSMs) of metal–organic frameworks (MOFs) play a crucial role in enhancing material performance through open metal site (OMS) functionalization or ligand exchange. However, a significant challenge persists in preserving open metal sites during ligand exchange, as these sites are inherently bound by incoming ligands. In this study, for the first time, we introduced alkoxides by exchanging bridging chloride in Ni2Cl2BTDD (BTDD=bis (1H‐1,2,3,–triazolo [4,5‐b],–[4′,5′‐i]) dibenzo[1,4]dioxin) through PSM. Rietveld refinement of synchrotron X‐ray diffraction data indicated that the alkoxide oxygen atom bridges Ni(II) centers while the OMSs of the MOF are preserved. Due to the synergy of the existing OMS and introduced functional group, the alkoxide‐exchanged MOFs showed CO2 uptakes superior to the pristine MOF. Remarkably, the tert‐butoxide‐substituted Ni_T exhibited a nearly threefold and twofold increase in CO2 uptake compared to Ni2Cl2BTDD at 0.15 and 1 bar, respectively, as well as high water stability relative to the other exchanged frameworks. Furthermore, the Grand Canonical Monte Carlo simulations for Ni_T suggested that CO2 interacts with the OMS and the surrounding methyl groups of tert‐butoxide groups, which is responsible for the enhanced CO2 capacity. This work provides a facile and unique synthetic strategy for realizing a desirable OMS‐incorporating MOF platform through bridging ligand exchange. [ABSTRACT FROM AUTHOR]

Artificial Intelligence (AI) technology has attracted tremendous interest in the medical community, from image analysis to lesion diagnosis. However, progress in medical AI is hampered by a lack of available medical image datasets and labor‐intensive labeling processes. Here, it is demonstrated that a large number of annotated, realistic chest X‐ray images can be generated using a state‐of‐the‐art generative adversarial network (GAN) that exploits noise produced by stochastic in‐memory computing of memristor crossbar arrays. Memristors based on polymer film with high thermal resistance can increase the stochasticity of the tunneling distance for randomly ruptured conductive filaments via excessive Joule heating, thus generating true random numbers required for creating naturally diverse images in GAN. Using StyleGAN2‐adaptive discriminator augmentation (ADA), high‐quality chest X‐ray images with and without pneumothorax are successfully augmented while maintaining a good Frechet inception distance score. The results provide a cost‐effective solution for preparing privacy‐sensitive medical images and labeling to develop innovative medical AI algorithms. [ABSTRACT FROM AUTHOR]

With the advancement of the Internet of Things (IoT), numerous electronic devices are connected to each other and exchange a vast amount of data via the Internet. As the number of connected devices increases, security concerns have become more significant. As one of the potential solutions for security issues, hardware intrinsic physical unclonable functions (PUFs) are emerging semiconductor devices that exploit inherent randomness generated during the manufacturing process. The unclonable security key generated from PUF can address the inherent limitations of conventional electronic systems which depend solely on software. Although numerous PUFs based on the emerging memory devices requiring switching operations have been proposed, achieving hardware intrinsic PUF with low power consumption remains a key challenge. Here, we demonstrate that the process-induced nonlinear conductance variations of oxide semiconductor-based Schottky diodes provide a suitable source of entropy for the implementation of PUF without switching operation. Using a mild oxygen plasma treatment, the surface electron accumulation layer that forms naturally in oxide semiconductor film can be partially eliminated, resulting in a large variation of nonlinearity as an exotic entropy source. The mild plasma-treated Schottky diodes showed near ideal 50% average uniformity and uniqueness, as well as an ideal entropy value without the need for additional hardware area and power costs. These findings will pave the way for the development of hardware intrinsic PUFs to realize energy-efficient cryptographic hardware. [ABSTRACT FROM AUTHOR]

The aim of this study is to characterize the microRNA (miRNA) expression signatures in patients with thyroid eye disease (TED) and identify miRNA biomarkers of disease activity. Total RNA was isolated from the sera of patients with TED (n = 10) and healthy controls (HCs, n = 5) using the miRNeasy Serum/Plasma Kit. The NanoString assay was used for the comprehensive analysis of 798 miRNA expression profiles. Analysis of specific miRNA signatures, mRNA target pathway analysis, and network analysis were performed. Patients with TED were divided into two groups according to disease activity: active and inactive TED groups. Differentially expressed circulating miRNAs were identified and tested using quantitative reverse transcription-polymerase chain reaction (qRT-PCR) tests in the validation cohort. Among the 798 miRNAs analyzed, 173 differentially downregulated miRNAs were identified in TED patients compared to those in the HCs. Ten circulating miRNAs were differentially expressed between the active and inactive TED groups and regarded as candidate biomarkers for TED activity (one upregulated miRNA: miR-29c-3p; nine downregulated miRNAs: miR-4286, miR-941, miR-571, miR-129-2-3p, miR-484, miR-192-5p, miR-502-3p, miR-597-5p, and miR-296-3p). In the validation cohort, miR-484 and miR-192-5p showed significantly lower expression in the active TED group than in the inactive TED group. In conclusion, the expression levels of miR-484 and miR-192-5p differed significantly between the active and inactive TED groups, suggesting that these miRNAs could serve as circulating biomarkers of TED activity, however, these findings need to be validated in further studies. [ABSTRACT FROM AUTHOR]

In an article published in Advanced Functional Materials, Sung‐Yool Choi, Byung Chul Jang, and their colleagues present a method for generating realistic chest X-ray images using a generative adversarial network (GAN) and stochastic in-memory computing of memristor crossbar arrays. The researchers demonstrate that this cost-effective solution has the potential to generate privacy-sensitive medical images and aid in the development of innovative medical AI algorithms. The article provides a large number of annotated chest X-ray images and highlights the benefits of their approach for machine learning-based medical diagnosis. [Extracted from the article]

Objectives: To investigate the characteristics of margin reflex distance 1 (MRD1) asymmetry in congenital lower eyelid epiblepharon and its resolution after surgical correction of epiblepharon. Methods: Among patients who underwent lower eyelid epiblepharon surgery from November 2015 to September 2017, patients with a preoperative MRD1 difference of more than 1.0 mm between the two eyes according to medical photographs were defined as having MRD1 asymmetry. A postoperative MRD1 difference of less than 1.0 mm between the two eyes was regarded as MRD1 asymmetry resolution. The preoperative MRD1 difference was compared between subgroups with resolved or sustained MRD1 asymmetry. Astigmatism and amblyopia were also assessed. Results: Among 432 patients, MRD1 asymmetry was observed in 24 patients (5.6%). MRD1 was always lower in the side with more extensive epiblepharon. At 6 months after surgery, the mean MRD1 difference between the two eyes was significantly decreased (1.8 ± 0.7 mm to 0.5 ± 0.8 mm, p <.001, paired t-test) and MRD1 asymmetry resolution occurred in 19 patients (79%). In the resolved MRD1 asymmetry group, the preoperative MRD1 difference was 2.0 mm or less and was significantly smaller than that in the sustained MRD1 asymmetry group (p =.010, Mann-Whitney U test). Six patients had preoperative aniso-astigmatism ≥ 1.50 D. Unilateral amblyopia presented in nine patients (38%) and improved within 1 year postoperatively. Conclusions: MRD1 asymmetry can be resolved after epiblepharon surgery, especially when the preoperative MRD1 difference is 2.0 mm or less. Unilateral amblyopia was frequent, but the treatment outcome was good. [ABSTRACT FROM AUTHOR]

Purpose: To evaluate the effect of a topical steroid instillation on recently developed incomplete nasolacrimal duct obstruction (NLDO) evaluated by using anterior segment optical coherence tomography (ASOCT). Methods: Forty-nine eyes of 31 patients with incomplete NLDO who developed epiphora within 3 months were recruited and treated with a topical steroid for 3 months. Tear meniscus height (TMH) and area (TMA) were measured by ASOCT. The treatment was considered to be effective when there was improvement of subjective epiphora, normal tear meniscus on slit lamp examination, a fluorescein dye disappearance test with grade 0 or 1, and TMH < 250 μm on ASOCT. The treatment effectiveness and associated factors were analyzed. Results: Treatment was effective in 24 eyes (49.0%) after 6 months of follow-up. TMH and TMA at 3 months were significantly decreased in the effective group on ASOCT (TMH: from 385 to 268 μm, p = 0.002, TMA: from 0.0564 to 0.0266 mm2, p = 0.001, Wilcoxon test). In the effective group, the eyes with normal tear meniscus at 1 month were significantly more frequent than those in the ineffective group (p < 0.001, Fisher's exact test). No patient in the effective group required further invasive management during 3 years of follow-up. Conclusions: Topical steroid instillation has a significant therapeutic effect on recently developed incomplete NLDO. Additional invasive procedures were avoided in half of the subjects. [ABSTRACT FROM AUTHOR]

Purpose/Aims: To compare the clinical and radiological findings of the two rare entities of congenital orbital fibrosis and congenital fibrosis of the extraocular muscles (CFEOM). Materials Methods: Clinical characteristics and magnetic resonance imaging (MRI) findings of three congenital orbital fibrosis patients were analyzed and compared to 13 CFEOM patients. Results: In all three patients with congenital orbital fibrosis, unilateral EOM limitation and enophthalmos were found with a retrobulbar infiltrating mass and normal oculomotor and abducens nerves on MRI. Conversely, most of the patients with CFEOM showed bilateral involvement with hypoplasia of oculomotor nerves and/or abducens nerves and hypotrophic EOM on MRI. Conclusion: All the patients with congenital orbital fibrosis had normal oculomotor and abducens nerves with a retrobulbar mass infiltrating between EOMs, suggesting that congenital orbital fibrosis is a unique disease entity distinguished from CFEOM. [ABSTRACT FROM AUTHOR]

Purpose: Möbius syndrome is characterized by abducens and facial nerve palsy. However, the presence/absence of corresponding cranial nerves on MRI was not fully evaluated. The purpose of this study was to investigate the mechanism of Möbius syndrome by associating the presence of abducens and facial nerves on MR imagings with clinical features.Methods: We retrospectively reviewed the medical records and MR imagings of nine patients with Möbius syndrome between January 2004 and October 2015. The presence/absence of abducens and facial nerves on MR imaging, as well as corresponding neuro-ophthalmologic clinical features, was investigated.Results: Facial palsy was bilateral in six and unilateral in three patients. Abduction was limited bilaterally in five and unilaterally in four patients. The degrees of facial palsy and abduction limitation were variable, and asymmetric even in the bilateral cases. MR imaging documented bilateral absence of the abducens and facial nerves in six, absence of unilateral facial nerve and bilateral abducens nerves in one, and absence of facial and abducens nerves unilaterally on the same side in another. Both abducens and facial nerves were visualized bilaterally only in the one remaining patient.Conclusions: The absence of abducens and facial nerves on MR imaging was mostly correlated with the findings of facial palsy and abduction limitation in patients with Möbius syndrome. MR imaging aids in diagnosis of Möbius syndrome by documenting the absence or presence of abducens and facial nerves. [ABSTRACT FROM AUTHOR]

Purpose: To identify crucial molecular alterations of receptor tyrosine kinases that can be used as potential therapeutic targets for eyelid sebaceous gland carcinoma (SbGC). Methods: The expression levels of HER2, EGFR, C-MET, and FGFR1 were determined by immunohistochemistry (IHC). The copy numbers of the HER2, EGFR, C-MET, and FGFR1 genes were assessed by fluorescence in situ hybridization. The IHC and molecular results were correlated with the clinical parameters. Results: A total of 49 patients with eyelid SbGC were included in this study. HER2, EGFR, C-MET, and FGFR1 protein expression was detected in 8 of 44 (16.3 %), 8 of 45 (17.8 %), 3 of 35 (8.6 %), and 0 of 45 patient samples, respectively. Increased copy numbers of the HER2 gene were found in 5 of 42 patient samples (11.9 %), including two with amplification (4.7 %) and three with polysomy (7.2 %). EGFR amplification was found in 2 of 33 (6.1 %) and FGFR1 amplification in 4 of 33 patient samples (12.1 %; high-level amplification in one and low-level amplification in three). None of the samples examined exhibited C-MET amplification. Gene copy number of the HER2 gene was correlated with its protein expression ( p < 0.0001), whereas copy number of EGFR, C-MET, or FGFR1 was not correlated with protein expression. However, samples with EGFR amplification also exhibited a high level of expression of this protein. Conclusions: Extra copies of the HER2, EGFR, and FGFR1 genes were identified in a 6-12 % of eyelid SbGCs. A high level of concordant HER2 expression detected by immunohistochemistry can be predictive of a copy number gain of the HER2 gene. Our data suggest that the therapeutic targeting of HER2 might benefit for a subset of patients with periocular SbGCs. [ABSTRACT FROM AUTHOR]

This study was performed to examine the chemical and isotopic compositions of groundwater used in open loop GHP systems and natural groundwater around the open loop GHP systems and to evaluate the influence of open loop GHP systems' operation on groundwater chemistry in Korea. The water temperature of groundwater used in open loop GHP systems ranged from 6.0 to 37.1°C and decreased by 6.7 to 11.6°C compared with that of natural groundwater around the open loop GHP systems. The pH, EC, Eh, Fe, and Mn of the groundwater were not significantly affected by open loop GHP systems' operation. The groundwaters used in open loop GHP systems showed various water types, such as Ca-HCO, Ca-Cl, Ca-SO, and Na-HCO· Although HCO and Cl concentrations were slightly influenced by open loop GHP systems at some sites, the groundwater chemistry used in the open loop GHP systems did not significantly change at most sites. In addition, carbonate and silica minerals and minerals containing Mn were in undersaturated condition, which indicates that the precipitation of these minerals will not occur. However, some minerals containing Fe, such as Fe(OH), goethite, and hematite can be precipitated as scale within these system. In the open loop GHP systems selected in this study, the influence of open loop GHP systems on groundwater chemistry is not revealed sufficiently because of short-term monitoring of groundwater chemistry. However, integrated long-term monitoring is necessary to evaluate influence of open loop GHP systems on groundwater chemistry and to improve our understanding of the environmental impacts related to these systems. [ABSTRACT FROM AUTHOR]

The article presents a case study of a 57-year-old woman referred for conjunctival injection and eyeball pain with history of hearing difficulty and left facial nerve palsy. Topics discussed include her history of chemotherapy for acute promyelocytic leukaemia, observations of severe eyelid swelling, conjunctival injection and chemosis; and her diagnosis with relapsing polychondritis along with neurolabyrinthitis in the right ear.

This study aims to analyze clinical and pathological characteristics of ocular adnexal extranodal marginal zone B-cell lymphoma (EMZL) accompanying IgG4-positive cells. Fifty patients with a diagnosis of primary non-conjunctival ocular adnexal EMZL were enrolled in this study. The number of IgG4-positive cells and the ratio of IgG/IgG4 were evaluated by immunohistochemistry in the biopsy specimens. The patients were divided into two groups based on the absolute number and the ratio of IgG4-positive cells (IgG4-posivite vs IgG4-negative groups). The demographic data, clinical staging at diagnosis, histopathological characteristics, and response to initial treatment were comparatively analyzed between the 2 groups. Five (10%) of 50 patients were defined as IgG4-positive group, and all the cases showed characteristic histological features such as extensive plasma cell infiltration and dense fibrosis. Most of these patients (4 of 5 patients) had lymphoma of the lacrimal gland. The patients from the IgG4-positive group showed a lower response rate to initial treatment (87.5 vs 33%, p = 0.03) than IgG4-negative group with a median follow-up period of 38 months. A part of the ocular adnexal EMZLs were accompanied with IgG4-positive cells. Significantly, most IgG4-positive ocular adnexal EMZLs occurred in the lacrimal gland, and can be related with a more frequent treatment failure. [ABSTRACT FROM AUTHOR]

Abstract: Prognosis of eyelid sebaceous gland carcinoma is largely unpredictable and there are few practically available markers for predicting patients' prognosis. Dysregulation of cell cycle progression is strongly associated with the development of cancer and the cancer prognosis. We investigated the expression of cell cycle regulatory proteins in eyelid sebaceous gland carcinoma and estimate their value as prognostic predictors. Forty-three cases of eyelid sebaceous gland carcinoma were included in this study. Immunohistochemistry for the p53, p21, p27, cyclin E, p16, cyclin D1, and phosphorylated Rb (pRb) proteins was performed using archival paraffin blocks. Correlations between clinical features and protein expression were evaluated statistically. Nine patients showed lymph node or distant metastasis, and the remaining patients showed localized disease. High expression of p21, p27, cyclin E, and p16 was found in the majority of tumor cell nuclei, whereas these proteins were rarely expressed in the normal sebaceous glands. However, pRb was focally lost in a subset of cases. Patients showing diffuse p27 expression developed metastasis less commonly than those with negative or focal p27 expression (log-rank test, p = 0.008). Aberrant expression of cell cycle regulatory proteins was observed in eyelid sebaceous gland carcinoma, suggesting that cell cycle dysregulation is involved in the pathogenesis of this tumor. Decreased p27 expression is a predictive biomarker of an unfavorable prognosis of eyelid sebaceous gland carcinoma. [Copyright &y& Elsevier]

Background: The aim of this work is to investigate the prevalence and clinical characteristics of congenital lacrimal fistula in Down syndrome patients. Methods: The medical records of 198 Down syndrome patients who were referred to a tertiary ophthalmology clinic from 2000 to 2010 were retrospectively reviewed to identify patients with congenital lacrimal fistula. The demographic data, clinical features, clinical management, and clinical outcomes were recorded. The main outcome measures were the presence and laterality of fistula, accompanying adnexal and oculomotor abnormalities including congenital nasolacrimal duct obstruction (NLDO), the type of surgery performed, and surgical outcome. The prevalence of congenital lacrimal fistula in Down syndrome patients was calculated upon this data. Results: Congenital lacrimal fistula was identified in 8/198 (4.04 %) patients, 4 (2.02 %) of whom presented with bilateral lacrimal fistula. All patients that had lacrimal fistula complained of tearing from their eyes. Congenital NLDO was observed in seven of eight patients with lacrimal fistula. Five patients underwent excision of the lacrimal fistula for the improvement of cosmesis, and three of these patients also underwent lacrimal silicone intubation for NLDO. Another patient received lacrimal silicone intubation for NLDO without excision of the lacrimal fistula. Excision of the lacrimal fistula was successful in all patients; however, tearing persisted after surgery in two patients with uncorrected NLDO. Conclusions: Congenital lacrimal fistula occurs more frequently in Down syndrome patients and therefore these patients should be thoroughly examined for this abnormality. Down syndrome patients with congenital lacrimal fistula should be also examined for NLDO, because this condition is frequently observed in these patients. [ABSTRACT FROM AUTHOR]

Abstract: Probiotics have been considered as preventive agents for the control of inflammatory bowel disease (IBD). In this study, we assessed the immunomodulatory effect of Bifidobacterium bifidum BGN4 on the control of IBD using the CD4+ CD45RBhigh T cell transfer disease model. The mice were fed for 4 weeks with either a conventional diet containing only skim milk or a diet containing skim milk with 0.3% (w/w) BGN4. The BGN4-fed mice showed normal weight growth, fewer clinical symptoms such as thickened wall and inflammatory cell infiltration, and lower levels of CD4+ T lymphocyte infiltration and inflammatory cytokine productions than the skim milk-fed mice with IBD in the large intestine. Suppression of these cytokine productions, particularly IFN-γ and MCP-1, through BGN4 treatment was also observed in the in vitro co-culture between intestinal epithelial cells and T cells. These findings suggested that a BGN4 supplemented diet could be helpful for the control of aberrant immune responses in the intestinal tissue. [Copyright &y& Elsevier]

Background: We previously developed a machine learning (ML)-assisted system for predicting the clinical activity score (CAS) in thyroid-associated orbitopathy (TAO) using digital facial images taken by a digital single-lens reflex camera in a studio setting. In this study, we aimed to apply this system to smartphones and detect active TAO (CAS ≥3) using facial images captured by smartphone cameras. We evaluated the performance of our system on various smartphone models and compared it with the performance of ophthalmologists with varying clinical experience. Methods: We applied the preexisting ML architecture to classify photos taken with smartphones (Galaxy S21 Ultra, iPhone 12 pro, iPhone 11, iPhone SE 2020, Galaxy M20, and Galaxy A21S). The performance was evaluated with smartphone-captured images from 100 patients with TAO. Three ophthalmology residents, three general ophthalmologists with <5 years of clinical experience, and three oculoplastic specialists independently interpreted the same set of images taken under a studio environment and compared their results with those generated by the smartphone-based ML-assisted system. Reference CAS was determined by a consensus of three oculoplastic specialists. Results: Active TAO (CAS ≥3) was identified in 28 patients. Smartphone model used in capturing facial images influenced active TAO detection performance (F1 score 0.59–0.72). The smartphone-based system showed 74.5% sensitivity, 84.8% specificity, and F1 score 0.70 on top three smartphones. On images from all six smartphones, average sensitivity, specificity, and F1 score were 71.4%, 81.6%, and 0.66, respectively. Ophthalmology residents' values were 69.1%, 55.1%, and 0.46. General ophthalmologists' values were 61.9%, 79.6%, and 0.55. Oculoplastic specialists' values were 73.8%, 90.7%, and 0.75. This smartphone-based ML-assisted system predicted CAS within 1 point of reference CAS in 90.7% using facial images from smartphones. Conclusions: Our smartphone-based ML-assisted system shows reasonable accuracy in detecting active TAO, comparable with oculoplastic specialists and outperforming residents and general ophthalmologists. It may enable reliable self-monitoring for disease activity, but confirmatory research is needed for clinical application. [ABSTRACT FROM AUTHOR]

Purpose: To quantitatively analyze morphological and functional alterations of the meibomian glands in eyes with marginal entropion and their changes after surgery. Methods: Sixty eyes of 52 patients with marginal entropion and underwent meibography and interferometer were included. One-hundred and seventeen age- and sex-matched eyes with minimal to mild meibomian gland dysfunction (MGD) were recruited as control eyes. Meibomian gland loss (MGL) and lipid layer thickness (LLT) were compared between eyes with marginal entropion and control eyes. Subgroup analysis was performed according to the extent of entropion. MGL and average LLT at 1 and 5 months after surgery were compared with those of 20 eyes with marginal entropion followed without surgery. Results: In eyes with marginal entropion, MGL was higher (27.7% vs. 12.8%, P = 0.014), and average LLT was thinner (64 nm vs. 86 nm, P = 0.005) than those in control eyes. MGL was higher in eyes with more extensive entropion (> 2/3 eyelid width) than in eyes with less extensive entropion (≤ 1/3 eyelid width) (40.5% vs. 13.2%, P = 0.001). Average LLT increased after surgery (97 nm at 1 month, P = 0.003; 75 nm at 5 months, P = 0.319), and thicker than that of eyes followed without surgery (97 nm vs. 66 nm, P = 0.046). MGLs after surgery remained unchanged from the preoperative MGL (all P > 0.7). Conclusion: Marginal entropion is associated with morphological and functional alterations of the meibomian glands. Functional improvement after entropion repair suggests that marginal entropion could cause or exacerbate MGD. Further studies are required to establish the role of entropion repair in managing MGD. [ABSTRACT FROM AUTHOR]

Purpose: To investigate the association between the bony nasolacrimal duct (NLD) size and outcomes of nasolacrimal silicone intubation for incomplete primary acquired nasolacrimal duct obstruction (PANDO). Methods: Patients who underwent silicone intubation for incomplete PANDO and had undergone facial computed tomography (CT) were included. Surgical success was judged by both epiphora improvement and normalized tear meniscus height (TMH; < 300 μm) on anterior segment optical coherence tomography at 3 months after tube removal. The area, major axis diameter, and minor axis diameter of the elliptic bony NLD sections were measured in 1.0 mm-thick axial CT images. These bony NLD sizes were analyzed for associations with surgical success and TMH normalization. Results: Eighty-one eyes of 48 patients were investigated. The smallest area and the smallest minor axis diameter were significantly larger in the success group (49 eyes), compared with those in the failure group (median smallest minor axis diameter: 4.7 mm vs. 3.8 mm, P = 0.008, Mann–Whitney U test). There was also a tendency for the TMH normalization rate to significantly increase as the smallest area and the smallest minor axis diameter increased (P = 0.028 and 0.037, respectively, Fisher's 2 × 4 tests). Under multivariable logistic regression analysis using generalized estimating equation, a larger smallest minor axis diameter was associated with success of the nasolacrimal silicone intubation (odds ratio: 2.481, 95% confidence interval: 1.143–5.384). Conclusion: Surgical success of the nasolacrimal silicone intubation in incomplete PANDO is associated with a larger smallest minor axis diameter of the bony NLD. This finding will help understand the pathophysiology of surgical failure after nasolacrimal silicone intubation. [ABSTRACT FROM AUTHOR]

Background: Trastuzumab emtansine (Kadcyla®, T-DM1) is an antibody-drug conjugate used to treat HER2 (human epidermal growth factor receptor 2) overexpressing metastatic breast cancer. In this report, we present the first case of lacrimal drainage system stenosis identified after T-DM1 administration, and its successful treatment with a topical steroid.Case Presentation: A 36-year-old female with metastatic breast cancer was referred for excessive tearing of both eyes. She previously underwent mastectomy and was treated with multiple anti-cancer regimens. However, metastases to liver and bone were identified and T-DM1 was administered. After 2 months, epiphora developed in both eyes and the patient was referred for ophthalmologic examination. The height of the tear meniscus was increased. The fluorescein dye disappearance test (FDDT) showed a delayed clearance in both eyes. Diagnostic lacrimal probing demonstrated a lower distal canalicular stenosis in both eyes. Dacryocystography indicated multiple focal narrowing of nasolacrimal duct in the right eye and diffused narrowing of nasolacrimal duct in the left eye. Topical eyedrop of tobramycin 0.3% and dexamethasone 0.1% were prescribed four times a day. After 2 months of treatment, the patient reported relief from epiphora, and the height of tear meniscus was normalized in both eyes.Conclusion: T-DM1 administration in breast cancer treatment can induce lacrimal drainage system stenosis, which can be treated effectively with a topical steroid. [ABSTRACT FROM AUTHOR]

Purpose: To elucidate the patterns of strabismus and ophthalmoplegia associated with chronic progressive external ophthalmoplegia (CPEO) confirmed by mitochondrial DNA (mtDNA) deletions in Asians. Methods: A total of 10 patients confirmed to have mtDNA deletion associated with CPEO were included. Long‐range PCR encompassing the entire mtDNA was carried out. In the cases with mtDNA deletion, the exact deletion ranges of mtDNA were identified by sequencing. A full ophthalmologic examination including prism and alternate cover test in the primary position, evaluation of ductions and versions, and binocularity was performed in 10 patients with confirmed mtDNA deletions associated with CPEO. Results: All of the patients showed ophthalmoplegia as well as ptosis, even after eyelid surgeries. Ophthalmoplegia was symmetric between both eyes in nine patients (90%) while one patient (10%) showed asymmetric ophthalmoplegia with esotropia and left hypotropia. Among the nine patients with symmetric involvement, four patients (44%) showed exotropia, three (33%) had exotropia with vertical deviation, and the remaining two patients (22%) showed orthotropia. Five out of 10 patients (50%) complained of diplopia associated with strabismus, four of whom (80%) had vertical deviation. Three out of five patients (60%) without diplopia showed exotropia of 20 prism diopters (PD) to 50 PD. Conclusions: Exotropia with/without vertical deviation is the most common form of strabismus in Asian patients with CPEO and only one of them showed a small angle of esotropia. Ophthalmoplegia could be asymmetric in 10% of CPEO patients. [ABSTRACT FROM AUTHOR]

Purpose: To investigate longitudinal changes in risk factors for amblyopia in children treated with congenital nasolacrimal duct obstruction (CNLDO). Methods: Retrospective observational case control study. A total of 446 children under 4 years of age who underwent probing and/or intubation for CNLDO between January 2004 and January 2018, and 446 age-matched controls were included. Cycloplegic refraction and ocular alignment were investigated at the time of treatment and after at least one year of symptom improvement. Children were classified as having amblyopia risk factors on the basis of the American Association for Pediatric Ophthalmology and Strabismus guideline in 2013. Main outcome measures: The prevalence of amblyogenic refractive errors, and determinants associated with the presence of amblyogenic refractive errors in CNLDO patients. Results: The prevalence of amblyogenic refractive errors in CNLDO patients (5.4%) was similar to that of the control group (6.5%) (P = 0.571). After one year of symptom improvement in CNLDO patients, the prevalence of amblyogenic refractive errors was 4.7%. There was no difference in the prevalence of amblyogenic refractive errors between unilateral and bilateral CNLDO patients. Multivariate analysis revealed that manifest strabismus was the only risk factor related with the presence of amblyogenic refractive errors (odds ratio = 6.383, confidence interval = 1.205–33.826, P = 0.029). Conclusions: This study found no evidence to suggest that the prevalence of amblyopia risk factors is higher in CNLDO patients compared with normal controls. Manifest strabismus was the only determinant associated with the presence of amblyogenic refractive errors. [ABSTRACT FROM AUTHOR]

Objectives: To investigate the factors affecting recovery of diplopia and limited ocular motility in pediatric patients who underwent surgery for orbital wall fracture. Design: Retrospective observational case series. Methods: In this retrospective observational case series, 150 pediatric patients (1–18 years old) who were diagnosed with orbital medial wall or floor fracture and underwent corrective surgery between 2004 and 2016 at Seoul National University Bundang Hospital were included. The medical records of patients with orbital medial wall or floor fracture were reviewed, including sex, age, diplopia, ocular motility, preoperative computed tomographic finding, and surgical outcomes. Factors affecting recovery of diplopia and ocular motility limitation were analyzed. Results: Of the 150 patients (134 boys; mean age, 14.4 years) who underwent corrective surgery for orbital wall fracture, preoperative binocular diplopia was found in 76 (50.7%) patients and limited ocular motility in 81 (54.0%). Presence of muscle incarceration or severe supraduction limitation delayed the recovery of diplopia. In case of ocular motility limitation, presence of muscle incarceration and retrobulbar hemorrhage were related with the delayed resolution. Multivariate analysis revealed supraduction limitation (Hazard ratio [HR] = 1.74, 95% confidence interval [CI] = 1.19–2.55), larger horizontal orbital floor defects (HR = 1.22, 95% CI = 1.07–1.38), and shorter time interval to first visit (HR = 0.73) as negative prognostic factors for the recovery of diplopia. In addition, muscle incarceration (HR = 3.53, 95% CI = 1.54–8.07) and retrobulbar hemorrhage (HR = 3.77, 95% CI = 1.45–9.82) were found as negative prognostic factors for the recovery of motility limitation. Conclusions: Presence of muscle incarceration and retrobulbar hemorrhage, horizontal length of floor fracture, supraduction limitation, and time interval from trauma to first visit were correlated with the surgical outcomes in pediatric orbital wall fracture patients. These results strengthen that the soft tissue damage associated with bony fracture affects the orbital functional unit. When managing children with orbital wall fracture, meticulous physical examination and thorough preoperative computed tomography based evaluation will help physicians to identify damage of orbital functional unit. [ABSTRACT FROM AUTHOR]

Artificial intelligence as a screening tool for eyelid lesions will be helpful for early diagnosis of eyelid malignancies and proper decision-making. This study aimed to evaluate the performance of a deep learning model in differentiating eyelid lesions using clinical eyelid photographs in comparison with human ophthalmologists. We included 4954 photographs from 928 patients in this retrospective cross-sectional study. Images were classified into three categories: malignant lesion, benign lesion, and no lesion. Two pre-trained convolutional neural network (CNN) models, DenseNet-161 and EfficientNetV2-M architectures, were fine-tuned to classify images into three or two (malignant versus benign) categories. For a ternary classification, the mean diagnostic accuracies of the CNNs were 82.1% and 83.0% using DenseNet-161 and EfficientNetV2-M, respectively, which were inferior to those of the nine clinicians (87.0–89.5%). For the binary classification, the mean accuracies were 87.5% and 92.5% using DenseNet-161 and EfficientNetV2-M models, which was similar to that of the clinicians (85.8–90.0%). The mean AUC of the two CNN models was 0.908 and 0.950, respectively. Gradient-weighted class activation map successfully highlighted the eyelid tumors on clinical photographs. Deep learning models showed a promising performance in discriminating malignant versus benign eyelid lesions on clinical photographs, reaching the level of human observers. [ABSTRACT FROM AUTHOR]

Although the clinical activity score (CAS) is a validated scoring system for identifying disease activity of thyroid-associated orbitopathy (TAO), it may produce differing results depending on the evaluator, and an experienced ophthalmologist is required for accurate evaluation. In this study, we developed a machine learning (ML)-assisted system to mimic an expert's CAS assessment using digital facial images and evaluated its accuracy for predicting the CAS and diagnosing active TAO (CAS ≥ 3). An ML-assisted system was designed to assess five CAS components related to inflammatory signs (redness of the eyelids, redness of the conjunctiva, swelling of the eyelids, inflammation of the caruncle and/or plica, and conjunctival edema) in patients' facial images and to predict the CAS by considering two components of subjective symptoms (spontaneous retrobulbar pain and pain on gaze). To train and test the system, 3,060 cropped images from 1020 digital facial images of TAO patients were used. The reference CAS for each image was scored by three ophthalmologists, each with > 15 years of clinical experience. We repeated the experiments for 30 randomly split training and test sets at a ratio of 8:2. The sensitivity and specificity of the ML-assisted system for diagnosing active TAO were 72.7% and 83.2% in the test set constructed from the entire dataset. For the test set constructed from the dataset with consistent results for the three ophthalmologists, the sensitivity and specificity for diagnosing active TAO were 88.1% and 86.9%. In the test sets from the entire dataset and from the dataset with consistent results, 40.0% and 49.9% of the predicted CAS values were the same as the reference CAS, respectively. The system predicted the CAS within 1 point of the reference CAS in 84.6% and 89.0% of cases when tested using the entire dataset and in the dataset with consistent results, respectively. An ML-assisted system estimated the clinical activity of TAO and detect inflammatory active TAO with reasonable accuracy. The accuracy could be improved further by obtaining more data. This ML-assisted system can help evaluate the disease activity consistently as well as accurately and enable the early diagnosis and timely treatment of active TAO. [ABSTRACT FROM AUTHOR]

[Display omitted] • Naphthalene-based M 2 (dondc) series with open metal sites is prepared. • Ni 2 (dondc) achieves a second-highest volumetric H 2 storage capacity of 10.74 g/L. • The strong affinity of the open metal site to H 2 is confirmed in Ni 2 (dondc). • The long-term durability of Ni 2 (dondc) in H 2 storage is demonstrated. Adsorbent-based hydrogen storage systems offer a potential solution to current challenges in hydrogen storage, particularly those requiring high pressures or cryogenic temperatures. Specifically, the use of metal–organic frameworks (MOFs) featuring open metal sites that strongly adsorb hydrogen represents a promising strategy for near-ambient-temperature hydrogen storage. This study investigates the hydrogen storage properties of M 2 (dondc) (M = Mg2+, Co2+, and Ni2+), an extended version of MOF-74. Among this series, Ni 2 (dondc) exhibits the second-highest volumetric hydrogen capacity of 10.74 g L−1 at 298 K under pressure swing adsorption conditions (100 to 5 bar) at ambient temperatures. The superior hydrogen storage performance of Ni 2 (dondc) is attributed to its highly polarizable Ni open metal sites and a significant heat of adsorption of 12.2 kJ mol−1. These findings are corroborated by temperature-programmed desorption spectroscopy and van der Waals-corrected density functional theory calculations. In addition to its exceptional hydrogen capacity, Ni 2 (dondc) exhibits robust structural stability and long-term durability, positioning it as a promising candidate for near-ambient-temperature hydrogen storage applications. [ABSTRACT FROM AUTHOR]

The 2018 Hearing Loss Expert Panel (HL-EP)-specific guidelines specified from the universal 2015 ACMG/AMP guidelines are proposed to be used in genetic HL, which prompted this study. A genetic HL cohort comprising 135 unrelated probands with available exome sequencing data was established. Overall, 169 variants were prioritized as candidates and interpreted using the 2015 ACMG/AMP and 2018 HL-EP guidelines. Changes in rule application and variant classification between the guidelines were compared. The concordance rate of variant classification of each variant between the guidelines was 71.60%, with significant difference. The proportion of pathogenic variants increased from 13.02% (2015) to 29.59% (2018). Variant classifications of autosomal recessive (AR) variants that previously belonged to VUS or likely pathogenic in the 2015 guidelines were changed toward pathogenic in the 2018 guidelines more frequently than those of autosomal dominant variants (29.17% vs. 6.38%, P = 0.005). Stratification of the PM3 and PP1 rules in the 2018 guidelines led to more substantial escalation than that in the 2015 guidelines. We compared the disease-specific guidelines (2018) with the universal guidelines (2015) using real-world data. Owing to the sophistication of case-level data, the HL-specific guidelines have more explicitly classified AR variants toward "likely pathogenic" or "pathogenic", serving as potential references for other recessive genetic diseases. [ABSTRACT FROM AUTHOR]

Purpose: To investigate the prevalence and clinical features of acquired lower eyelid epiblepharon in Korean patients with thyroid-associated ophthalmopathy (TAO) and compare the pathogenic features of acquired and congenital epiblepharon. Design: Retrospective, nonrandomized, comparative case series, cross-sectional study. Participants: A total of 494 Korean patients with TAO and 845 Korean patients with congenital lower eyelid epiblepharon. Methods: The medical records were reviewed, and the presence, location, and extent of epiblepharon were identified. Clinical features of TAO (lower eyelid retraction, exophthalmos, and elevation limitation) were compared between patients with TAO with and without epiblepharon. Acquired epiblepharon was classified into 3 types according to the location and extent. The prevalence of epiblepharon types was determined and evaluated for associations with TAO clinical features. Comparisons were made between the prevalence of epiblepharon types in acquired and congenital epiblepharon. Main Outcome Measures: Prevalence, location, and extent of epiblepharon; association with clinical features of TAO; and difference from congenital epiblepharon. Results: An acquired lower eyelid epiblepharon was found in 42 (8.5%) of 494 patients with TAO. The mean age of patients with TAO with epiblepharon (34.2±13.5 years) was significantly lower than that of patients with TAO without epiblepharon (46.5±14.1 years) (P = 0.000). Lower eyelid retraction (0.78±1.11 mm) was more severe in patients with TAO with epiblepharon than in patients without epiblepharon (0.30±0.73 mm) (P = 0.000). Lower eyelid retraction was more severe in diffuse-type acquired epiblepharon than in central-type epiblepharon (P = 0.012). Elevation limitation was more severe in central-type acquired epiblepharon than in medial-type epiblepharon (P = 0.001). The occurrence of central-type epiblepharon was higher in TAO-associated acquired epiblepharon (20 eyelids, 30.8%) than in congenital epiblepharon (27 eyelids, 1.9%, P = 0.000). Conclusions: Acquired lower eyelid epiblepharon is one of the clinical features of patients with TAO. The association between lower eyelid retraction and acquired epiblepharon may lead to a better understanding of the cause of acquired epiblepharon in patients with TAO. Financial Disclosure(s): The author(s) have no proprietary or commercial interest in any materials discussed in this article. [ABSTRACT FROM AUTHOR]

The cortical auditory evoked potential (CAEP)-based P1 component acts as a biomarker for cochlear implantation (CI) outcomes in children with auditory neuropathy spectrum disorder (ANSD). To date, early intervention primarily before the age of two years and six months of CI usage is necessary and sufficient to achieve age-appropriate cortical maturation and good prognosis. However, varying degrees of neural dyssynchrony, resulting from the etiological heterogeneity of ANSD, may preclude uniform application of this hypothesis to ensure auditory cortical maturation. Thus, a focused evaluation of those carrying OTOF variants, which may be the salient molecular etiology of prelingual ANSD, would circumvent the issue of heterogeneity. Here, we sought to provide a much better understanding of the brain perspectives (i.e., P1 maturation) in OTOF-associated ANSD subjects and set the stage for an optimal strategy to enhance language development. We conducted a preliminary study comprising 10 subjects diagnosed with OTOF-related ANSD who underwent CI by a single surgeon and subsequently underwent measurements of the P1 component. We observed that DFNB9 subjects who received CI after 2 years of age exhibited "absent" or "anomalous" P1 components that correspond to delayed language development. However, timely implantation, as early as 12 months of age per se, might be insufficient to achieve age-appropriate cortical maturation of DFNB9 in cases with six to seven months of device use. This suggests the importance of sustained rehabilitation in DFNB9 than in other etiologies. Indeed, an additional follow-up study showed that a reduction in P1 latency was linked to an improvement in auditory performance. Collectively, our results suggest that central auditory maturation and successful outcome of CI in DFNB9 may have more demanding requirements, that is, earlier implantation and more sustained rehabilitation. We believe that the current study opens a new path toward genome-based neuroimaging in the field of hearing research. [ABSTRACT FROM AUTHOR]

Specific correlations between the outcomes of cochlear implantation (CI) and hearing thresholds of the both ears in post-lingual asymmetric hearing loss (AHL) patients were not clear. To identify the variables influencing the outcome of CI in post-lingual AHL patients. We included 18 adult subjects who had CI in the worse ear due to post-lingual AHL with average hearing asymmetry of 36 dB. Speech perception scores were evaluated in the sound field with hearing aid on the better ear before CI, and with the cochlear implant in the worse ear at 3, 6, and 12 months after CI switch-on. Average increases in phonetically balanced word score, spondee word score, and everyday sentence score at 12 months from CI switch-on compared with those before CI were 38.9%p, 46.2%p, and 52.4%p, respectively. Multiple linear regression analysis showed that speech perception scores were negatively influenced by age at implantation and hearing threshold difference of both ears (HTD-Both) itself, rather than the worse or better ear hearing thresholds. Post-lingual AHL subjects with high average hearing asymmetry can benefit from CI in the worse ear, while CI outcomes can be adversely influenced by HTD-Both and age at implantation both in the short- and long-term follow-up [ABSTRACT FROM AUTHOR]

Objective: To elucidate the clinical features of ocular motility and the risk factors for recurrence in idiopathic orbital myositis. Methods: The medical records of 31 patients diagnosed with idiopathic orbital inflammation between 2003 and 2019 were retrospectively reviewed. All patients were initially treated with corticosteroids. Treatment outcome and ocular motility were noted. Results: Twenty-six patients (84%) had unilateral involvement and five patients (16%) were bilateral. Of the 31 patients, 22 patients (71%) showed ocular motility limitation. The mean grading scale of extraocular muscle (EOM) limitation was −1.65 ± 1.80. EOM limitation was found in the same direction of the most affected muscle in 14 patients (64%), while 8 patients (36%) showed duction limitation in the opposite direction. Nine patients (35%) suffered from recurrence. Recurrence was more likely to occur in patients with multiple muscle involvement (p < 0.001). The interval to relapse of symptoms after discontinuation of steroids was significantly shorter in patients with multiple recurrences compared to those with a single recurrence (1.8 ± 0.8 weeks versus 6.0 ± 1.4 weeks, p = 0.020). Conclusions: Idiopathic orbital myositis showed variable degrees of ocular motility limitation, and limitation in the same direction of the action of the affected muscle was more frequent. Recurrent myositis was more likely to have multiple muscle involvement. Rapid relapse of symptoms after discontinuation of steroids was a significant indicator of multiple recurrences. [ABSTRACT FROM AUTHOR]

This phenomenological study explored and described the experiences and perceptions of adult facilitators who facilitated virtual-reality-based social interaction for children with autism. Extensive data were collected from iterative, in-depth interviews; online activities observation; and video analysis. Four salient themes emerged through the process of data generation, analysis, and comparison of participants: heterogeneity in group-based facilitation, coexistence of virtual and physical interaction spaces, sparkle and out-of-track moments, and pretraining for individualized facilitation. The findings should enrich the research area of technology-enhanced special education by delineating the dynamic processes and patterns of facilitating Internet-based social interactions for children with special needs. [ABSTRACT FROM PUBLISHER]

Purpose: To investigate whether the clinical and pathologic T category classification, as defined by the American Joint Committee on Cancer (AJCC), is associated with lymph nodes (LN) or distant metastasis in patients with eyelid sebaceous carcinoma. Methods: Forty patients treated for eyelid sebaceous carcinoma at Seoul National University Hospital between March 1999 and December 2011 were retrospectively staged according to the AJCC 7th edition criteria. Three different primary tumor classifications-(1) clinical tumor size at presentation; (2) clinical AJCC T stage (cT) at presentation based not only on size, but also on the extent of involvement and (3) pathologic AJCC T stage (pT) based on histopathological examination-were compared and evaluated with regard to their association with LN or distant metastasis. Results: In univariate analysis, the AJCC cT ( p = 0.005) and pT ( p = 0.029) categories were significantly associated with metastasis, but clinical tumor size alone did not correlate with metastasis ( p = 0.093). Clinical and pathologic AJCC stage T2b or higher tumors were significantly associated with metastasis compared to stage T1 or T2a tumors [odds ratio cT, 8.00 ( p = 0.025); pT, 6.91 ( p = 0.028)]. Conclusions: The clinical and pathologic AJCC T category has predictive value for LN or distant metastasis in eyelid sebaceous carcinoma. However, the clinically assessed largest tumor dimension alone is not an effective predictive factor. Clinicians should be aware of the increased risk of metastasis in patients with tumors of stage T2b or higher at initial presentation. [ABSTRACT FROM AUTHOR]

The marine red alga Pyropia tenera grows on intertidal rocks, where it undergoes dynamic environmental changes including temperature, desiccation, osmotic shock, and changes in light intensity. Therefore, Pyropia have developed a variety of strategies and mechanisms to overcome those environmental stressors. In an effort to identify the genes involved in the high-temperature tolerance of P. tenera, we generated 368,334 expression sequence tags (ESTs) using 454 sequencing technology and 3,331 ESTs using the Sanger method. Among the total ESTs, 222,024 reads were generated from gametophyte thalli under control condition and 149,641 reads were generated under high temperature condition. These ESTs were assembled into 17,870 contigs consisting of 336,016 reads, whereas 35,924 sequences remained as unassembled ESTs. Only 16.5 % of contigs shared significant similarity with an E value of ≤1E− 10 with UniProt sequence. The 95 different SSR motifs were discovered in 1,586 contigs. Trinucleotide repeat was absolutely predominant (90.2 %) SSR, and GGC was the most common motif. A comparison of the ESTs from gametophyte thalli under normal and heat stress conditions enabled us to identify the transcripts that were up or downregulated by high temperature. Most of transcripts produced under the high temperature condition belong to heat shock protein family and novel transcripts not matched to known genes in current public databases. These ESTs will provide valuable information to identify the DNA markers for the Pyropia species and the genes involved in the molecular mechanism of thermotolerance in red algae. [ABSTRACT FROM AUTHOR]

Simple Summary: The molecular pathogenesis of sebaceous carcinoma is largely unknown so far. The main aim of our study was to investigate genetic alterations in ocular and extraocular sebaceous carcinoma in Korean patients. By applying targeted next-generation sequencing, we demonstrated a distinct mutational profile in ocular and extraocular sebaceous carcinoma. In addition, clinically actionable variants involving tyrosine kinase genes and homologous recombination deficiency-associated genes were detected, suggesting the possibility of targeted therapeutic trials in intractable sebaceous carcinoma cases. The biological behavior of sebaceous carcinoma (SeC) is relatively indolent; however, local invasion or distant metastasis is sometimes reported. Nevertheless, a lack of understanding of the genetic background of SeC makes it difficult to apply effective systemic therapy. This study was designed to investigate major genetic alterations in SeCs in Korean patients. A total of 29 samples, including 20 ocular SeCs (SeC-Os) and 9 extraocular SeCs (SeC-EOs), were examined. Targeted next-generation sequencing tests including 171 cancer-related genes were performed. TP53 and PIK3CA genes were frequently mutated in both SeC-Os and SeC-EOs with slight predominance in SeC-Os, whereas the NOTCH1 gene was more commonly mutated in SeC-EOs. In clinical correlation, mutations in RUNX1 and ATM were associated with development of distant metastases, and alterations in MSH6 and BRCA1 were associated with inferior progression-free survival (all p < 0.05). In conclusion, our study revealed distinct genetic alterations between SeC-Os and SeC-EOs and some important prognostic molecular markers. Mutations in potentially actionable genes, including EGFR, ERBB2, and mismatch repair genes, were noted, suggesting consideration of a clinical trial in intractable cases. [ABSTRACT FROM AUTHOR]

We sought to describe the surgical techniques required in the ab-interno method to implant subretinal prostheses in mini-pigs and suggest tips to facilitate optimal outcomes. During vitrectomy, the use of valved trocar cannulas was essential to stabilize the detached retina and implanted chip. As a first step in retinal detachment, a 23-gauge cannula with very small amount of viscoelastic material was used to establish the retinal hole and promote retinal detachment. Then, balanced salt solution was applied to increase the retinal detachment and diathermy was used to make opening for subretinal prosthesis. For easy positioning of the subretinal prosthesis, a curved laser probe was adopted when handling the subretinal prosthesis under the retina. After surgery, the sclerotomy sites were tightly sutured to prevent silicone oil leakage. Without special equipment, such as a 41-gauge tip, retinal detachment could be induced easily, while the prosthesis was also successfully inserted and manipulated under the retina without an iatrogenic retinal tear. Two weeks after the operation, the oil fully occupied the intraocular volume without leakage. The subretinal prosthesis remained stable without complication. Understanding the principle of the ab-interno method and considering several tips for improving surgical access may help to enhance surgical success rates of subretinal prostheses implantation. [ABSTRACT FROM AUTHOR]