Background: Because of the low prevalence of inherited retinal diseases, reports on the distribution of retinitis pigmentosa (RP)-related genes in Korean patients are scarce. The aim of this study was to determine the mutation spectrum and allele frequency and observe the final diagnoses in a Korean cohort clinically diagnosed with RP. Methods: We used whole-exome sequencing (WES) to analyze a Korean cohort of 100 unrelated patients clinically diagnosed with RP. The possible pathogenicity of each variant was assessed based on the guidelines of the American College of Medical Genetics and Genomics and Association for Molecular Pathology, in-silico prediction tools, known clinical phenotypes, and inheritance patterns. Results: Definite causative genes were detected in 60/100 patients (60.0%). Of these 60 cases, USH2A was the most common causative gene (14/60, 23.3%), followed by EYS (13/60, 21.7%) and RP1 (6/60, 10.0%). The clinical diagnosis was redefined in 9 of the 60 probands (15.0%) with causative genes after WES. Five of the 60 patients (8.3%) carried a causative variant in CHM, and the clinical diagnosis was redefined as choroideremia. Leber congenital amaurosis was diagnosed in 2/60 probands (3.3%), and RDH12 and RPGRIP1 were the causative genes in each patient. One patient (1/60, 1.7%) was diagnosed with Bietti’s crystalline dystrophy, with CYP4V2 identified as the causative gene. In another patient (1/60, 1.7%), ABCA4 variants were detected with clinical findings suggestive of cone-rod dystrophy. Conclusion This study reports the mutational spectrum of a cohort of Korean patients with a clinical diagnosis of RP who were referred for genetic testing. This study adds valuable data regarding the frequency of genes as well as their relation to the age of symptom onset and relation to other inherited retinal degenerations.

Background: Immunocompromised (IC) pediatric patients are at increased risk of severe acute respiratory syndrome coronavirus 2 infection, but the viral kinetics and seroimmunologic response in pediatric IC patients are not fully understood. Methods: From April to June 2022, a prospective cohort study was conducted. IC pediatric patients hospitalized for coronavirus disease 2019 (COVID-19) were enrolled. Serial saliva swab and serum specimens were subjected to reverse transcription polymerase chain reaction assays with mutation sequencing, viral culture, anti-spike-protein, anti-nucleocapsid antibody assays, plaque reduction neutralization test (PRNT) and multiplex cytokine assays. Results: Eleven IC children were evaluated. Their COVID-19 symptoms resolved promptly (median, 2.5 days; interquartile range, 2.0–4.3). Saliva swab specimens contained lower viral loads than nasopharyngeal swabs (P = 0.008). All cases were BA.2 infection, and 45.5% tested negative within 14 days by saliva swab from symptom onset. Eight (72.7%) showed a time-dependent increase in BA.2 PRNT titers, followed by rapid waning. Multiplex cytokine assays revealed that monocyte/macrophage activation and Th 1 responses were comparable to those of non-IC adults. Activation of interleukin (IL)-1Ra and IL-6 was brief, and IL-17A was suppressed. Activated interferon (IFN)-γ and IL-18/IL-1F4 signals were observed. Conclusion IC pediatric patients rapidly recovered from COVID-19 with low viral loads.Antibody response was limited, but cytokine analysis suggested an enhanced IFN-γ- and IL-18-mediated immune response without excessive activation of inflammatory cascades. To validate our observation, immune cell-based functional studies need to be conducted among IC and non-IC children.

Background: Because of the low prevalence of inherited retinal diseases, reports on the distribution of retinitis pigmentosa (RP)-related genes in Korean patients are scarce. The aim of this study was to determine the mutation spectrum and allele frequency and observe the final diagnoses in a Korean cohort clinically diagnosed with RP. Methods: We used whole-exome sequencing (WES) to analyze a Korean cohort of 100 unrelated patients clinically diagnosed with RP. The possible pathogenicity of each variant was assessed based on the guidelines of the American College of Medical Genetics and Genomics and Association for Molecular Pathology, in-silico prediction tools, known clinical phenotypes, and inheritance patterns. Results: Definite causative genes were detected in 60/100 patients (60.0%). Of these 60 cases, USH2A was the most common causative gene (14/60, 23.3%), followed by EYS (13/60, 21.7%) and RP1 (6/60, 10.0%). The clinical diagnosis was redefined in 9 of the 60 probands (15.0%) with causative genes after WES. Five of the 60 patients (8.3%) carried a causative variant in CHM, and the clinical diagnosis was redefined as choroideremia. Leber congenital amaurosis was diagnosed in 2/60 probands (3.3%), and RDH12 and RPGRIP1 were the causative genes in each patient. One patient (1/60, 1.7%) was diagnosed with Bietti’s crystalline dystrophy, with CYP4V2 identified as the causative gene. In another patient (1/60, 1.7%), ABCA4 variants were detected with clinical findings suggestive of cone-rod dystrophy. Conclusion This study reports the mutational spectrum of a cohort of Korean patients with a clinical diagnosis of RP who were referred for genetic testing. This study adds valuable data regarding the frequency of genes as well as their relation to the age of symptom onset and relation to other inherited retinal degenerations.

Background: Immunocompromised (IC) pediatric patients are at increased risk of severe acute respiratory syndrome coronavirus 2 infection, but the viral kinetics and seroimmunologic response in pediatric IC patients are not fully understood. Methods: From April to June 2022, a prospective cohort study was conducted. IC pediatric patients hospitalized for coronavirus disease 2019 (COVID-19) were enrolled. Serial saliva swab and serum specimens were subjected to reverse transcription polymerase chain reaction assays with mutation sequencing, viral culture, anti-spike-protein, anti-nucleocapsid antibody assays, plaque reduction neutralization test (PRNT) and multiplex cytokine assays. Results: Eleven IC children were evaluated. Their COVID-19 symptoms resolved promptly (median, 2.5 days; interquartile range, 2.0–4.3). Saliva swab specimens contained lower viral loads than nasopharyngeal swabs (P = 0.008). All cases were BA.2 infection, and 45.5% tested negative within 14 days by saliva swab from symptom onset. Eight (72.7%) showed a time-dependent increase in BA.2 PRNT titers, followed by rapid waning. Multiplex cytokine assays revealed that monocyte/macrophage activation and Th 1 responses were comparable to those of non-IC adults. Activation of interleukin (IL)-1Ra and IL-6 was brief, and IL-17A was suppressed. Activated interferon (IFN)-γ and IL-18/IL-1F4 signals were observed. Conclusion IC pediatric patients rapidly recovered from COVID-19 with low viral loads.Antibody response was limited, but cytokine analysis suggested an enhanced IFN-γ- and IL-18-mediated immune response without excessive activation of inflammatory cascades. To validate our observation, immune cell-based functional studies need to be conducted among IC and non-IC children.

and Relevance: Severe necrosis and mild fibrosis were observed in the liver and forelimb skeletal muscles. Based on histological analysis, we diagnosed iron overload myopathy by secondary hemochromatosis. Secondary hemochromatosis with severe muscle atrophy and myositis is very rare, and this is the first report of iron-overload myopathy in a dog.

Background and Objectives: Among various emerging catheter-based treatments for severe tricuspid regurgitation (TR), the spacer device can reduce the regurgitation orifice without manipulating the valve leaflet. However, its clinical application has been hampered by traumatic anchoring to the myocardium and the coaxial alignment of the balloon resulting in insufficient TR reduction. This study aimed to evaluate the early-stage safety, technical feasibility, and preliminary efficacy of the novel atraumatic vertical spacer in patients with isolated severe TR. Methods: All procedures were guided by fluoroscopy and transthoracic echocardiography.The maximum device placement time with an inflated balloon was 24 hours. Changes in the amount of TR, right ventricular function, and patient hemodynamics were measured during balloon deployment. Results: A total of 7 patients (median age 74), underwent successful device implantation without procedure-related complications. During balloon inflation (median 25 minutes), there were no symptoms or signs indicative of TR intolerance. TR was reduced by 1 grade or greater in all patients, with 2 patients exhibiting a reduction of 3 grades, from torrential TR to a moderate degree. Mild TR after balloon inflation was achieved in 3 patients with baseline severe TR. The TR reduction observed during initial balloon deployment was sustained during the subsequent balloon maintenance period. Conclusions The Pivot-balloon procedure was safe, technically feasible, and effective in reducing TR in patients with severe TR. No periprocedural complications or adverse cardiovascular events were reported during device placement with TR reduction observed in all patients. However, longer-term follow-up is needed to confirm safety and treatment effect.

Background: We hypothesized that intranasal combination of dexmedetomidine (2 μg/kg) and ketamine (3 mg/kg) (IN DEXKET) improves the success rate of sedation in pediatric patients compared with chloral hydrate (CH; 50 mg/kg). Methods: This prospective, two-center, single-blinded, randomized controlled trial involved 136 pediatric patients (aged < 7 years) requiring procedural sedation. The participants were randomized to receive CH or IN DEXKET via a mucosal atomizer device. The primary outcome was the success rate of sedation (Pediatric Sedation State Scale, scores 1–3) within 15 min. The secondary outcomes included sedation failure at 30 min and overall complications of first-attempt sedation. Results: After excluding eight patients, 128 were included (CH = 66, IN DEXKET = 62). IN DEXKET showed a similar sedation success rate (75.8% [47/62] vs. 66.7% [44/66]; P = 0.330) but a lower complication rate (3.2% [2/62] vs. 16.7% [11/66]; P = 0.017) than CH. In the subgroup analysis for patients aged < 1 year, IN DEXKET showed a reduced complication rate than CH (2.6% [1/38] vs. 22.9% [8/35]; P = 0.012). In the subgroup analysis of children aged 1–7 years, IN DEXKET showed a higher sedation success rate within 15 min (79.2% [19/24] vs. 51.6% [16/31]; P = 0.049) and a lower sedation failure after 30 min (0% vs. 29.0% [9/31]; P = 0.003) than CH. Conclusions The intranasal combination of dexmedetomidine (2 μg/kg) and ketamine (3 mg/kg) is a safe and effective alternative to CH (50 mg/kg) for sedation in pediatric patients aged < 7 years.

Background: Syphilis, an infectious and chronic disease primarily transmitted through sexual contact, is caused by the spirochete bacterium Treponema pallidum. Although the introduction of penicillin has significantly reduced its incidence, syphilis continues to have a substantial impact on public health. Objective: The purpose of this study was to investigate trends in syphilis and to analyze its epidemiologic, clinical, and serologic characteristics. Methods: We retrospectively reviewed the medical records of 330 patients who tested positive for the Venereal Disease Research Laboratory (VDRL) test, including 192 patients who received a diagnosis of syphilis and who visited the Dermatology Department of Gachon University Gil Medical Center between 2000 and 2023. Statistical analyses were performed to evaluate trends in syphilis incidence and related variable factors, such as sex, age, and serological results. Results: The average age of the 192 syphilis patients was 34.18±15.81 years, with a male-to-female ratio of 1:1.2. The most prevalent age group was 20∼29 years, comprising 71 patients (37.0%). Over time, the incidence of syphilis demonstrated a decreasing trend (p＜0.001). A total of 105 patients (54.7%) were diagnosed with symptomatic syphilis, with a male-to-female ratio of 1.5:1. The proportion of symptomatic syphilis patients tended to decrease with increasing age (p＜0.05). Maculopapular syphilis was the most frequently observed presentation in secondary syphilis (36.2%). The proportion of symptomatic syphilis patients significantly increased with higher VDRL titers (p＜0.001). Conclusion The incidence of syphilis has shown a consistent decline over the past two decades. However, the relatively higher prevalence among younger age groups indicates the need for continued public health efforts.

Regorafenib is an oral multikinase inhibitor used to treat advanced solid tumors, including hepatocellular carcinoma (HCC), gastrointestinal stromal tumors, and colorectal cancer. Adverse dermatological reactions are common after regorafenib treatment. The most frequent cutaneous adverse reaction is hand-foot skin reaction (HFSR). Compared to HFSR, reports on adverse reactions on the scrotum associated with regorafenib are limited. Only a few cases of adverse reactions on the scrotum associated with HFSR have been reported. We present the case of a 55-year-old male patient with a 1-year history of scrotal dermatitis and HFSR, who had been undergoing treatment for HCC.One year after administration of oral regorafenib (160 mg/d), multiple vesicles, pustules, desquamation, and hyperkeratosis developed on both hands and feet, accompanied by scaly erythematous plaques around the scrotum.The lesions improved after two weeks of treatment with topical and systemic steroids. Herein, we report a rare case of scrotal dermatitis associated with regorafenib-induced HFSR.