Joubert syndrome presenting bilateral peroneal neuropathies: A case report.

RATIONALE: Joubert syndrome (JS) is a rare genetic disorder that presents with various neurological symptoms, primarily involving central nervous system dysfunction. Considering the etiology of JS, peripheral nervous system abnormalities cannot be excluded; however, cases of JS accompanied by peripheral nervous system abnormalities have not yet been reported. Distinct radiological findings on brain magnetic resonance imaging were considered essential for the diagnosis of JS. However, recently, cases of JS with normal or nearly normal brain morphology have been reported. To date, there is no consensus on the most appropriate diagnostic method for JS when imaging-based diagnostic approach is challenging. This report describes the case of an adult patient who exhibited bilateral peroneal neuropathies and was finally diagnosed with JS through genetic testing. PATIENT CONCERNS AND DIAGNOSIS: A 27-year-old man visited our outpatient clinic due to a gait disturbance that started at a very young age. The patient exhibited difficulty maintaining balance, especially when walking slowly. Oculomotor apraxia was observed on ophthalmic evaluation. During diagnostic workups, including brain imaging and direct DNA sequencing, no conclusive findings were detected. Only nerve conduction studies revealed profound bilateral peroneal neuropathies. We performed whole genome sequencing to obtain a proper diagnosis and identify the gene mutation responsible for JS. LESSONS: This case represents the first instance of peripheral nerve dysfunction in JS. Further research is needed to explore the association between JS and peripheral nervous system abnormalities. Detailed genetic testing may serve as a valuable tool for diagnosing JS when no prominent abnormalities are detected in brain imaging studies.

Automated analysis of knee joint alignment using detailed angular values in long leg radiographs based on deep learning.

Malalignment in the lower limb structure occurs due to various causes. Accurately evaluating limb alignment in situations where malalignment needs correction is necessary. To create an automated support system to evaluate lower limb alignment by quantifying mechanical tibiofemoral angle (mTFA), mechanical lateral distal femoral angle (mLDFA), medial proximal tibial angle (MPTA), and joint line convergence angle (JLCA) on full-length weight-bearing radiographs of both lower extremities. In this retrospective study, we analysed 404 radiographs from one hospital for algorithm development and testing and 30 radiographs from another hospital for external validation. The performance of segmentation algorithm was compared to that of manual segmentation using the dice similarity coefficient (DSC). The agreement of alignment parameters was assessed using the intraclass correlation coefficient (ICC) for internal and external validation. The time taken to load the data and measure the four alignment parameters was recorded. The segmentation algorithm demonstrated excellent agreement with human-annotated segmentation for all anatomical regions (average similarity: 89-97%). Internal validation yielded good to very good agreement for all the alignment parameters (ICC ranges: 0.7213-0.9865). Interobserver correlations between manual and automatic measurements in external validation were good to very good (ICC scores: 0.7126-0.9695). The computer-aided measurement was 3.44 times faster than was the manual measurement. Our deep learning-based automated measurement algorithm accurately quantified lower limb alignment from radiographs and was faster than manual measurement.

Geographical discrimination of Asian red pepper powders using 1H NMR spectroscopy and deep learning-based convolution neural networks.

This study investigated an innovative approach to discriminate the geographical origins of Asian red pepper powders by analyzing one-dimensional 1H NMR spectra through a deep learning-based convolution neural network (CNN). 1H NMR spectra were collected from 300 samples originating from China, Korea, and Vietnam and used as input data. Principal component analysis - linear discriminant analysis and support vector machine models were employed for comparison. Bayesian optimization was used for hyperparameter optimization, and cross-validation was performed to prevent overfitting. As a result, all three models discriminated the origins of the test samples with over 95 % accuracy. Specifically, the CNN models achieved a 100 % accuracy rate. Gradient-weighted class activation mapping analysis verified that the CNN models recognized the origins of the samples based on variations in metabolite distributions. This research demonstrated the potential of deep learning-based classification of 1H NMR spectra as an accurate and reliable approach for determining the geographical origins of various foods.

Low Molecular Weight Collagen Peptide (LMWCP) Promotes Hair Growth by Activating the Wnt/GSK-3ß/ß-Catenin Signaling Pathway.

Low molecular weight collagen peptide (LMWCP) is a collagen hydrolysate derived from fish. We investigated the effects of LMWCP on hair growth using human dermal papilla cells (hDPCs), human hair follicles (hHFs), patch assay, and telogenic C57BL/6 mice, while also examining the underlying mechanisms of its action. LMWCP promoted proliferation and mitochondrial potential, and the secretion of hair growth-related factors, such as EGF, HB-EGF, FGF-4, and FGF-6 in hDPCs. Patch assay showed that LMWCP increased the neogeneration of new HFs in a dose-dependent manner. This result correlated with an increase in the expression of dermal papilla (DP) signature genes such as, ALPL, SHH, FGF7, and BMP-2. LMWCP upregulated phosphorylation of glycogen synthase kinase-3ß (GSK-3ß) and ß-catenin, and nuclear translocation of ß-catenin, and it increased the expression of Wnt3a, LEF1, VEGF, ALP, and ß-catenin. LMWCP promoted the growth of hHFs and increased the expression of ß-catenin and VEGF. Oral administration of LMWCP to mice significantly stimulated hair growth. The expression of Wnt3a, ß-catenin, PCNA, Cyclin D1, and VEGF was also elevated in the back skin of the mice. Furthermore, LMWCP increased the expression of cytokeratin and Keratin Type I and II. Collectively, these findings demonstrate that LMWCP has the potential to increase hair growth via activating the Wnt/ß-catenin signaling pathway.

Impacts of Daily Life and Job Satisfaction on Social Participation of Persons with Visual Impairment.

Objective: This study is aimed at providing baseline data for improving the social participation of persons with visual impairment by verifying the impacts of daily life satisfaction and job satisfaction on their social participation. Methods: This study utilized data from the 5th survey of the 2nd wave of the Panel Survey of Employment for the Disabled (PSED) provided by the Korea Employment Agency for Persons with Disabilities (KEAD). Of the 511 persons with visual impairment who participated in the panel survey, 151 people who met the inclusion criteria were selected as the research subjects. This study compared social participation, job satisfaction, and daily life satisfaction, which were validated by experts' review, consulting, and research at the KEAD. Results: Daily life satisfaction and job satisfaction of persons with visual impairment had positive correlations with social participation. Job satisfaction had a statistically significant impact on social participation. Additionally, the stability of employment and monthly income were the variables affecting social participation. Conclusion: The result drawn in this study can be applied as basic data related to the social participation of people with visual impairment.

Atypical progress of frozen shoulder after COVID-19 vaccination: A case report.

BACKGROUND: After vaccination was mandated worldwide, various adverse effects associated with the coronavirus disease 2019 (COVID-19) vaccination, including shoulder pain, have been reported. Here, we report a case of new-onset shoulder pain after BNT162b2 (Comirnaty, Pfizer-BioNTech) mRNA vaccination. CASE SUMMARY: A 50-year-old man visited our rehabilitation center with left shoulder range of motion (ROM) limitation that had persisted for more than 5 mo. The history included no specific noteworthy events, except vaccination. The pain in the patient's left deltoid muscle appeared 1 day after the second BNT162b2 vaccination and intensified to severe pain. The patient self-administered aspirin, with which the pain subsided immediately, whereas ROM limitation persisted. At the first visit, the patient complained of dull pain and ROM restriction of the left shoulder (flexion 130°, abduction 110°, and external rotation 40°). Among the diagnostic studies conducted for the evaluation of the shoulder, magnetic resonance imaging showed a thickened coracohumeral ligament. Nerve conduction studies and needle electromyography showed no electrodiagnostic abnormalities. The patient received comprehensive rehabilitation for 7 mo and had an overall improvement in pain and ROM of the left shoulder. CONCLUSION: In this case of severe shoulder pain after COVID-19 vaccination that subsided immediately with aspirin treatment, the exact cause and mechanism of pain are unclear. However, the clinical symptoms and diagnostic workups in our report suggest the possibility that the COVID-19 vaccination triggered an immunochemical response that resulted in shoulder pathology.

Effect of the Online Friendship Network on Internet Game Frequency and Time Among University Students in the Republic of Korea.

Objective: In this study, we analyzed the effects of online friendship networks on Internet game frequency and time among university students.Methods: Our participants were 34 university students. Online friendship networks were analyzed by social network analysis and degree, closeness, and betweenness centrality. Internet game frequency showed the average frequency of playing Internet games during a week and Internet game time indicated the average time during the day. Results: The Out-degree centrality of online friendship networks, and Out-closeness centrality and Internet game time showed positive (+) correlations. In addition, analysis of causal relationships showed that only Out-degree centrality had a positive (+) effect on Internet game time. Conclusion: To prevent immersion in games and their negative effects, we recommend persons form relationship networks with other friends who have positive goals such as hobbies, leisure activities, and learning.

Effects of self-efficacy, self-esteem, and disability acceptance on the social participation of people with physical disabilities: Focusing on COVID-19 pandemic.

PURPOSE: The objective of this study was to understand the effects of self-efficacy, self-esteem, and the degree of disability acceptance of people with physical disabilities living in COVID-19 pandemic on their social participation. METHODS: Among the 4577 registered disabled people who participated in the 2nd wave of the Panel Survey of Employment for the Disabled (PSED), 1682 people with physical disabilities who faithfully answered all the survey items were selected as the final study subjects. This study used the variables of social participation, self-efficacy, self-esteem, and disability acceptance, which were validated by experts' review and consulting and research at the Korea Employment Agency for Persons with Disability. Pearson's correlation analysis and multiple linear regression analysis were performed to identify variables that could predict the social participation of the study subjects. RESULTS: The self-efficacy, self-esteem, and the degree of disability acceptance of people with physical disabilities were positively correlated with social participation. The results of this study showed that self-efficacy, self-esteem, the degree of disability acceptance, economic activity, and education level explained 22.4% of social participation. CONCLUSIONS: It was found that self-efficacy, self-esteem, and the degree of disability acceptance of people with physical disabilities were important variables affecting social participation. These psychoemotional variables shall be considered for intervention approaches to improve the social participation of people with physical disabilities in the future.

The impact of simulated hemianopia on visual search for faces, words, and cars.

Tests of visual search can index the effects of perceptual load and compare the processing efficiency for different object types, particularly when one examines the set-size effect, the increase in search time for each additional stimulus in an array. Previous studies have shown that the set-size effect is increased by manoeuvres that impede object processing, and in patients with object processing impairments. In this study, we examine how the low-level visual impairment of hemianopia affects visual search for complex objects, using a virtual paradigm. Forty-two healthy subjects performed visual search for faces, words, or cars with full-viewing as well as gaze-contingent simulations of complete left or right hemianopia. Simulated hemianopia lowered accuracy and discriminative power and increased response times and set-size effects, similarly for faces, words and cars. A comparison of set-size effects between target absent and target present trials did not show a difference between full-view and simulated hemianopic conditions, and a model of decision-making suggested that simulated hemianopia reduced the rate of accumulation of perceptual data, but did not change decision thresholds. We conclude that simulated hemianopia reduces the efficiency of visual search for complex objects, and that such impairment should be considered when interpreting results from high-level object processing deficits.

Deep learning-based tool affects reproducibility of pes planus radiographic assessment.

Angle measurement methods for measuring pes planus may lose consistency by errors between observers. If the feature points for angle measurement can be provided in advance with the algorithm developed through the deep learning method, it is thought that the error between the observers can be reduced. A total of 300 weightbearing lateral radiographs were used for the development of the deep learning-based algorithm, and a total of 95 radiographs were collected for the clinical validation test set. Meary angle (MA) and calcaneal pitch (CP) were selected as measurement methods and measured twice by three less-experienced physicians with the algorithm-based tool and twice without. The intra- and inter-observer agreements of MA and CP measures were assessed via intra-class correlation coefficient. In addition, verification of the improvement of measurement performance by the algorithm was performed. Interobserver agreements for MA and CP measurements with algorithm were more improved than without algorithm. As for agreement with reference standard, combining the results of all readers, both MA and CP with algorithm were greater than those without algorithm. The deep learning algorithm tool is expected to improve the reproducibility of radiographic measurements for pes planus, especially by improving inter-observer agreement.

Protective Effect of Ribes nigrum Extract against Blue Light-Induced Retinal Degeneration In Vitro and In Vivo.

Although blackcurrant has several health benefits, such as antioxidant and anti-inflammatory properties, its effects on the retina remain unclear. In this study, we investigated the efficacy of black currant extract (BCE) in an in vitro and in vivo model of dry age-related macular degeneration (AMD) induced by blue light. Dry macular degeneration is characterized by the abnormal accumulation of lipofuscin (e.g., N-retinylidene-N-retinylethanolamine, A2E) in the retina. Blue light (BL) significantly decreased the viability of A2E-laden human retinal pigment epithelial cells (ARPE-19). However, BCE treatment protected ARPE-19 cells from A2E and BL. A2E, which is oxidized by blue light, generates reactive oxygen species in RPE cells. Treatment with BCE significantly decreased (80.8%) reactive oxygen species levels induced by A2E and BL in a concentration-dependent manner. BCE inhibited A2E accumulation in ARPE-19 cells and significantly downregulated the expression of genes increased by A2E and BL in ARPE-19 cells. In vivo, oral administration of BCE (25-100 mg/kg) ameliorated ocular lesions of BL-induced retinal damage in a mouse model and rescued the thickness of the whole retina, photoreceptor segment layer, outer nuclear layer, and inner nuclear layer. The decrease in the number of nuclei in the outer nuclear layer induced by BL was also rescued by BCE. Additionally, BCE administration rescued (40.0%) the BL-induced reduction in the expression level of superoxide dismutase 1. Taken together, our results suggest that BCE may have preventive and therapeutic effects on dry AMD through its antioxidant activity and inhibition of lipofuscin accumulation in the retina.

High-performance biosensor using a sandwich assay via antibody-conjugated gold nanoparticles and fiber-optic localized surface plasmon resonance.

For real-time and high-sensitivity analysis of low-concentration targets, a sandwich immunoassay using second antibody-second gold nanoparticle (2nd Ab-2nd AuNP) conjugates was combined with fiber-optic localized surface plasmon resonance (FO LSPR). An FO LSPR format was constructed by immobilizing AuNPs on a fiber-optic cross-section for compactness, portability, and ease of handling. In addition, it was combined with a microfluidic system to ensure reproducibility and reliability of measurements. A detection limit of 97.6 fg/mL (148 aM) was obtained for thyroglobulin (Tg) without a sandwich assay. The detection limit was enhanced by approximately 15 times (6.6 fg/mL, 10 aM) when a sandwich strategy was performed with a 2nd Ab-2nd AuNP signal amplifier to further improve the responsivity. Additionally, the good selectivity of the proposed method was confirmed against the unpaired antigen. To evaluate its practical applicability in the field, an FO LSPR biosensor boosted with a sandwich assay using antibody-functionalized AuNPs was applied to detect Tg contained in patient serum, and the results were compared and verified with those of a commercial radioimmunoassay kit. Based on the above results, the signal-enhancing immunoassay with FO LSPR will contribute to the development of optical biosensors for early diagnosis and preventive applications.

Fiber Optic Plasmonic Sensors Based on Nanodome Arrays with Nanogaps.

In this study, a high-performance fiber optic surface plasmon resonance (FO-SPR) sensor using a dome array with nanogaps (DANG) is proposed for label-free real-time detection of biomolecules. A novel and simple method using polymer beads enables high sensitivity by allowing hotspots with nanometer spacing between the Au dome and the surrounding film. The nanodome structure, which comprises a polymer core and a Au shell, induces a localized surface plasmon, expands the sensing area, and extensively enhances the electromagnetic field. The refractive index sensitivity of the FO-SPR sensor with nanostructures, i.e., with nanogaps and nanodomes, was found to be 7.8 times higher than that of the FO-SPR sensor without nanostructures. The proposed sensor achieved a low detection limit of 38 fg/mL while quantifying thyroglobulin antibody-antigen interactions and exhibited excellent selectivity. In addition, it helped detect serum samples with a 103% recovery rate.

Phylogeographic Relationships among Bombyx mandarina (Lepidoptera: Bombycidae) Populations and Their Relationships to B. mori Inferred from Mitochondrial Genomes.

We report 37 mitochondrial genome (mitogenome) sequences of Bombyx mori strains (Lepidoptera: Bombycidae) and four of B. mandarina individuals, each preserved and collected, respectively, in South Korea. These mitogenome sequences combined with 45 public data showed a substantial genetic reduction in B. mori strains compared to the presumed ancestor B. mandarina, with the highest diversity detected in the Chinese origin B. mori. Chinese B. mandarina were divided into northern and southern groups, concordant to the Qinling-Huaihe line, and the northern group was placed as an immediate progenitor of monophyletic B. mori strains in phylogenetic analyses, as has previously been detected. However, one individual that was in close proximity to the south Qinling-Huaihe line was exceptional, belonging to the northern group. The enigmatic South Korean population of B. mandarina, which has often been regarded as a closer genetic group to Japan, was most similar to the northern Chinese group, evidencing substantial gene flow between the two regions. Although a substantial genetic divergence is present between B. mandarina in southern China and Japan, a highly supported sister relationship between the two regional populations may suggest the potential origin of Japanese B. mandarina from southern China instead of the Korean peninsula.

Low-Molecular-Weight Collagen Peptide Ameliorates Osteoarthritis Progression through Promoting Extracellular Matrix Synthesis by Chondrocytes in a Rabbit Anterior Cruciate Ligament Transection Model.

This study examined whether the oral administration of low-molecular-weight collagen peptide (LMCP) containing 3% Gly-Pro-Hyp with >15% tripeptide (Gly-X-Y) content could ameliorate osteoarthritis (OA) progression using a rabbit anterior cruciate ligament transection (ACLT) model of induced OA and chondrocytes isolated from a patient with OA. Oral LMCP administration (100 or 200 mg/kg/day) for 12 weeks ameliorated cartilage damage and reduced the loss of proteoglycan compared to the findings in the ACLT control group, resulting in dose-dependent (p < 0.05) improvements of the OARSI score in hematoxylin & eosin (H&E) and Safranin O staining. In microcomputed tomography analysis, LMCP also significantly (p < 0.05) suppressed the deterioration of the microstructure in tibial subchondral bone during OA progression. The elevation of IL-1ßand IL-6 concentrations in synovial fluid following OA induction was dose-dependently (p < 0.05) reduced by LMCP treatment. Furthermore, immunohistochemistry illustrated that LMCP significantly (p < 0.05) upregulated type II collagen and downregulated matrix metalloproteinase-13 in cartilage tissue. Consistent with the in vivo results, LMCP significantly (p < 0.05) increased the mRNA expression of COL2A1 and ACAN in chondrocytes isolated from a patient with OA regardless of the conditions for IL-1ßinduction. These findings suggest that LMCP has potential as a therapeutic treatment for OA that stimulates cartilage regeneration.

Design and validation of fiber optic localized surface plasmon resonance sensor for thyroglobulin immunoassay with high sensitivity and rapid detection.

A simple optical fiber sensor based on localized surface plasmon resonance was constructed for direct and rapid measurement of thyroglobulin (Tg). Specific tests for Tg in patients that have undergone thyroidectomy are limited because of insufficient sensitivity, complicated procedures, and in some cases, a long time to yield a result. A sensitive, fast, and simple method is necessary to relieve the psychological and physical burden of the patient. Various concentrations of Tg were measured in a microfluidic channel using an optical fiber sensor with gold nanoparticles. The sensor chip has a detection limit of 93.11 fg/mL with no specificity for other antigens. The potential applicability of the Tg sensing system was evaluated using arbitrary samples containing specific concentrations of Tg. Finally, the sensor can be employed to detect Tg in the patient's serum, with a good correlation when compared with the commercial kit.

Clinical and Genetic Characteristics of Korean Congenital Stationary Night Blindness Patients.

In this study, we investigated the clinical and genetic characteristics of 19 Korean patients with congenital stationary night blindness (CSNB) at two tertiary hospitals. Clinical evaluations, including fundus photography, spectral-domain optical coherence tomography, and electroretinography, were performed. Genetic analyses were conducted using targeted panel sequencing or whole exome sequencing. The median age was 5 (3-21) years at the initial examination, 2 (1-8) years at symptom onset, and 11 (5-28) years during the final visit. Genetic mutations were identified as CNGB1 and GNAT1 for the Riggs type (n = 2), TRPM1 and NYX for the complete type (n = 3), and CACNA1F (n = 14) for the incomplete type. Ten novel variants were identified, and best-corrected visual acuity (BCVA) and spherical equivalents (SE) were related to each type of CSNB. The Riggs and TRPM1 complete types presented mild myopia and good BCVA without strabismus and nystagmus, whereas the NYX complete and incomplete types showed mixed SE and poor BCVA with strabismus and nystagmus. This is the first case series of Korean patients with CSNB, and further studies with a larger number of subjects should be conducted to correlate the clinical and genetic aspects of CSNB.

Fabrication and measurement of fiber optic localized surface plasmon resonance sensor based on gold nanoparticle dimer.

Fiber optic localized surface plasmon resonance (FO LSPR) sensors capable of portable, real-time, and remote sensing are emerging with the progress of lab-on-fiber technology. However, the small area of the substrate by the optical fiber often restricts the sensitivity of the FO LSPR sensors. To improve the performance of the FO LSPR sensors, it is necessary to enhance the interactions between incident light and plasmonic nanostructures within a defined region. Dimer in which two nanoparticles are arranged with nanometer spacing can effectively increase the light-nanostructure interactions. It is well known that the nanogap made in the assembled nanoparticles significantly enhances the intensity of the electromagnetic field in the confined area by the hot spot effect. We fabricate the dimers of gold nanoparticles on the optical fiber with benzenethiol using a method that reduces the repulsive force between the nanoparticles. In the dimers, the strong plasmonic interaction between the two nanoparticles produces a longitudinal plasmon coupling band, which is compared to the transverse plasmon band by the monomer-based FO LSPR sensor with a similar density of gold nanoparticles. In the proposed sensor, the longitudinal band displays approximately 9.1 times improved sensitivity. When two types of sensors are applied to the biosensor application, the dimer-based FO LSPR sensor also proves an improved limit of detection of about 2.6 times. This method is expected to become a milestone in the field of measurement for small molecules and low concentration through the advancement of the yield and density of dimers.