Background: Genetic studies are clinically recommended in some cases of inherited arrhythmia syndromes. Nextgeneration sequencing (NGS) would be helpful because of its high analytical throughput and relative speed. This study aimed to assess the mutation-detection yield obtained by NGS compared with conventional Sanger sequencing method. Methods: Patients with aborted sudden cardiac death and their families who underwent gene sequencing tests for inherited arrhythmia syndromes were retrospectively and enrolled in this study from 2017 to 2022 at Chonnam National University Hospital. We evaluated NGS study results of 17 patients (NGS group) and Sanger study results of 19 patients (Sanger group). Results: 64.7% of NGS and 94.7% of Sanger group were probands. Type 1 Brugada pattern ECG was more frequent in NGS group (64.7% vs. 21.1%; p = 0.007). BrS was the most common disorder in NGS group (76.5%), and idiopathic ventricular fibrillation was the most common one in Sanger group (63.2%). Mutations with uncertain significance were the most common ones in NGS group (89.5%), and pathogenic or likely pathogenic mutations were the most common ones in Sanger group (45.7%). When positive yield was defined as the ratio of pathogenic or likely pathogenic mutations that were detected by sequencing, the yields were 10.5% and 45.7% in NGS and Sanger groups, respectively. The NGS arrhythmia panel did not cover two inherited arrhythmia-related mutations (RYR1, APOA5) that were detected by the Sanger method. The extended NGS arrhythmia panel was able to detect 84.8% of inherited arrhythmia-related mutations that were detected in Sanger group. Conclusions NGS study has some limitations in obtaining the full genetic data of probands. Well-designed NGS panels are needed to increase the efficiency of the NGS study. With the well-designed panels, large-scale gene sequencing can efficiently and rapidly be applied in real clinical practices, especially in inherited fatal arrhythmia syndromes that have a high detection yield in genetic analyses.

BACKGROUND: Spinal cord injury (SCI) results in permanent impairment of motor and sensory functions at and below the lesion site. There is no therapeutic option to the functional recovery of SCI involving diverse injury responses of different cell types in the lesion that limit endogenous nerve regeneration. In this regard, cell replacement therapy utilizing stem cells or their derivatives has become a highly promising approach to promote locomotor recovery. For this reason, the demand for a safe and efficient multipotent cell source that can differentiate into various neural cells is increasing. In this study, we evaluated the efficacy and safety of human polysialylated-neural cell adhesion molecule (PSA-NCAM)-positive neural precursor cells (hNPCsPSA-NCAM+ ) as a treatment for SCI. METHODS: One hundred thousand hNPCsPSA-NCAM+ isolated from human embryonic stem cell-derived NPCs were transplanted into the lesion site by microinjection 7 days after contusive SCI at the thoracic level. We examined the histological characteristics of the graft and behavioral improvement in the SCI rats 10 weeks after transplantation. RESULTS: Locomotor activity improvement was estimated by the Basso–Beattie–Bresnahan locomotor rating scale.Behavioral tests revealed that the transplantation of the hNPCsPSA-NCAM+ into the injured spinal cords of rats significantly improved locomotor function. Histological examination showed that hNPCsPSA-NCAM+ had differentiated into neural cells and successfully integrated into the host tissue with no evidence of tumor formation. We investigated cytokine expressions, which led to the early therapeutic effect of hNPCsPSA-NCAM+ , and found that some undifferentiated NPCs still expressed midkine, a well-known neurotrophic factor involved in neural development and inflammatory responses, 10 weeks after transplantation. CONCLUSION Our results demonstrate that hNPCsPSA-NCAM+ serve as a safe and efficient cell source which has the potential to improve impaired motor function following SCI.

Congenital melanocytic nevus is a hamartoma derived from the neural crest that is present at birth. Regression following surgical excision with an apparent halo phenomenon through suture lines has never been reported. A nine-year-old boy presented with a solitary symmetric, oval-shaped, blackish pigmented patch on his right forearm.He reported increasing size of the lesion with no other subjective symptoms. Histological examination of the first excisional biopsy revealed congenital melanocytic nevus, and serial excisions were planned. Interestingly, at the second visit at 18 months after the first biopsy, the size of the congenital melanocytic nevus was reduced with a peripheral whitish halo. Linear regression through suture lines and a peripheral halo was observed after the second and third serial excisions. The mechanism of the halo phenomenon remains elusive but is suggested theorized to be caused by destruction of melanocytes by immune responses of autoantibodies or cytotoxic T cells.

BACKGROUND: Autologous nerve grafts are the gold standard treatment for peripheral nerve injury treatment. However, this procedure cannot avoid sacrificing other nerves as a major limitation. The aim of the present study was to evaluate the potential of olfactory ensheathing cells (OECs) embedded in a nerve conduit. METHODS: A 10-mm segment of the sciatic nerve was resected in 21 rats, and the nerve injury was repaired with one of the following (n = 7 per group): autologous nerve graft, poly (ε-caprolactone) (PCL) conduit and OECs, and PCL conduit only. The consequent effect on nerve regeneration was measured based on the nerve conduction velocity (NCV), amplitude of the compound muscle action potential (ACMAP), wet muscle weight, histomorphometric analysis, and nerve density quantification. RESULTS: Histomorphometric analysis revealed nerve regeneration and angiogenesis in all groups. However, there were significant differences (p < 0.05) in the ACMAP nerve regeneration rate of the gastrocnemius and tibialis anterior muscles between the autologous graft (37.9 ± 14.3% and 39.1% ± 20.4%) and PCL only (17.8 ± 8.6% and 13.6 ± 5.8%) groups, and between the PCL only and PCL + OECs (46.3 ± 20.0% and 34.5 ± 14.6%) groups, with no differences between the autologous nerve and PCL + OEC groups (p > 0.05). No significant results in NCV, wet muscle weight, and nerve density quantification were observed among the 3 groups. CONCLUSION A PCL conduit with OECs enhances the regeneration of injured peripheral nerves, offering a good alternative to autologous nerve grafts.

Objectives: . Facial nerve monitoring (FNM) can be used to identify the facial nerve, to obtain information regarding its course, and to evaluate its status during parotidectomy. However, there has been disagreement regarding the efficacy of FNM in reducing the incidence of facial nerve palsy during parotid surgery. Therefore, instead of using electromyography (EMG) to identify the location and state of the facial nerve, we applied an intraoperative neuromonitoring (IONM) system using a surface pressure sensor to detect facial muscle twitching. The objective of this study was to investigate the feasibility of using the IONM system with a surface pressure sensor to detect facial muscle twitching during parotidectomy. Methods: . We evaluated the stimulus thresholds for the detection of muscle twitching in the orbicularis oris and orbicularis oculi, as well as the amplitude and latency of EMG and the surface pressure sensor in 13 facial nerves of seven rabbits, using the same stimulus intensity. Results: . The surface pressure sensor detected muscle twitching in the orbicularis oris and orbicularis oculi in response to a stimulation of 0.1 mA in all 13 facial nerves. The stimulus threshold did not differ between the surface pressure sensor and EMG. Conclusion . The application of IONM using a surface pressure sensor during parotidectomy is noninvasive, reliable, and feasible. Therefore, the IONM system with a surface pressure sensor to measure facial muscle twitching may be an alternative to EMG for verifying the status of the facial nerve.

Background: Hand eczema refers to eczema located on the hands, regardless of its etiology or morphology. Despite its high prevalence and significant impact on patients’ quality of life, treatment is frequently challenging because of its heterogeneity, chronic and recurrent course, and lack of well-organized randomized controlled trials of the various treatment options. Objective: These consensus guidelines aim to provide evidence-based recommendations on the diagnosis and management of hand eczema to improve patient care by helping physicians make more efficient and transparent decisions. Methods: A modified Delphi method, comprising two rounds of email questionnaires with face-to-face meetings in between, was adopted for the consensus process that took place between February and September 2020. Forty experts in the field of skin allergy and contact dermatitis were invited to participate in the expert panel. Results: Consensus was reached for the domains of classification, diagnostic evaluation, and treatment; and a therapeutic ladder to manage chronic hand eczema was developed. Conclusion These are the first consensus guidelines for chronic hand eczema in the Asian population, which will help standardize care and assist clinical decision-making in the diagnosis and treatment of chronic hand eczema.

Congenital melanocytic nevus is a hamartoma derived from the neural crest that is present at birth. Regression following surgical excision with an apparent halo phenomenon through suture lines has never been reported. A nine-year-old boy presented with a solitary symmetric, oval-shaped, blackish pigmented patch on his right forearm.He reported increasing size of the lesion with no other subjective symptoms. Histological examination of the first excisional biopsy revealed congenital melanocytic nevus, and serial excisions were planned. Interestingly, at the second visit at 18 months after the first biopsy, the size of the congenital melanocytic nevus was reduced with a peripheral whitish halo. Linear regression through suture lines and a peripheral halo was observed after the second and third serial excisions. The mechanism of the halo phenomenon remains elusive but is suggested theorized to be caused by destruction of melanocytes by immune responses of autoantibodies or cytotoxic T cells.

BACKGROUND: Autologous nerve grafts are the gold standard treatment for peripheral nerve injury treatment. However, this procedure cannot avoid sacrificing other nerves as a major limitation. The aim of the present study was to evaluate the potential of olfactory ensheathing cells (OECs) embedded in a nerve conduit. METHODS: A 10-mm segment of the sciatic nerve was resected in 21 rats, and the nerve injury was repaired with one of the following (n = 7 per group): autologous nerve graft, poly (ε-caprolactone) (PCL) conduit and OECs, and PCL conduit only. The consequent effect on nerve regeneration was measured based on the nerve conduction velocity (NCV), amplitude of the compound muscle action potential (ACMAP), wet muscle weight, histomorphometric analysis, and nerve density quantification. RESULTS: Histomorphometric analysis revealed nerve regeneration and angiogenesis in all groups. However, there were significant differences (p < 0.05) in the ACMAP nerve regeneration rate of the gastrocnemius and tibialis anterior muscles between the autologous graft (37.9 ± 14.3% and 39.1% ± 20.4%) and PCL only (17.8 ± 8.6% and 13.6 ± 5.8%) groups, and between the PCL only and PCL + OECs (46.3 ± 20.0% and 34.5 ± 14.6%) groups, with no differences between the autologous nerve and PCL + OEC groups (p > 0.05). No significant results in NCV, wet muscle weight, and nerve density quantification were observed among the 3 groups. CONCLUSION A PCL conduit with OECs enhances the regeneration of injured peripheral nerves, offering a good alternative to autologous nerve grafts.

Background: Hand eczema refers to eczema located on the hands, regardless of its etiology or morphology. Despite its high prevalence and significant impact on patients’ quality of life, treatment is frequently challenging because of its heterogeneity, chronic and recurrent course, and lack of well-organized randomized controlled trials of the various treatment options. Objective: These consensus guidelines aim to provide evidence-based recommendations on the diagnosis and management of hand eczema to improve patient care by helping physicians make more efficient and transparent decisions. Methods: A modified Delphi method, comprising two rounds of email questionnaires with face-to-face meetings in between, was adopted for the consensus process that took place between February and September 2020. Forty experts in the field of skin allergy and contact dermatitis were invited to participate in the expert panel. Results: Consensus was reached for the domains of classification, diagnostic evaluation, and treatment; and a therapeutic ladder to manage chronic hand eczema was developed. Conclusion These are the first consensus guidelines for chronic hand eczema in the Asian population, which will help standardize care and assist clinical decision-making in the diagnosis and treatment of chronic hand eczema.