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 and Objectives: The risk profiles, procedural characteristics, and clinical outcomes for women undergoing bifurcation percutaneous coronary intervention (PCI) are not well defined compared to those in men. Methods: COronary BIfurcation Stenting III (COBIS III) is a multicenter, real-world registry of 2,648 patients with bifurcation lesions treated with second-generation drug-eluting stents.We compared the angiographic and procedural characteristics and clinical outcomes based on sex. The primary outcome was 5-year target lesion failure (TLF), a composite of cardiac death, myocardial infarction, and target lesion revascularization. Results: Women (n=635, 24%) were older, had hypertension and diabetes more often, and had smaller main vessel and side branch reference diameters than men. The pre- and post-PCI angiographic percentage diameter stenoses of the main vessel and side branch were comparable between women and men. There were no differences in procedural characteristics between the sexes. Women and men had a similar risk of TLF (6.3% vs. 7.1%, p=0.63) as well as its individual components and sex was not an independent predictor of TLF. This finding was consistent in the left main and 2 stenting subgroups. Conclusions In patients undergoing bifurcation PCI, sex was not an independent predictor of adverse outcome.

The impact of Streptococcus pneumoniae coinfection on coronavirus disease 2019 (COVID-19) prognosis remains uncertain. We conducted a retrospective analysis of patients hospitalized with COVID-19 who underwent a pneumococcal urinary antigen (PUA) test to assess its clinical utility. Results showed that PUA-positive patients required more oxygen support, high-flow nasal cannula, and dexamethasone compared to PUA-negative patients.Furthermore, the significantly higher incidence of a National Early Warning Score ≥5 in the PUA-positive group (P<0.001) suggests that a positive PUA test is associated with a severe disease course. However, no significant difference in mortality was observed between the two groups, and antibiotics were used in almost all patients (96.2%). While the PUA test may help guide antibiotic use in COVID-19 patients, its interpretation should be approached with caution.

Background/Aims: This study aimed to evaluate the performance of the Model for End-Stage Liver Disease (MELD) 3.0 for predicting mortality and liver-related complications compared with the Child-Pugh classification, albumin-bilirubin (ALBI) grade, the MELD, and the MELD sodium (MELDNa) score. Methods: We evaluated a multicenter retrospective cohort of incorporated patients with cirrhosis between 2013 and 2019. We conducted comparisons of the area under the receiver operating characteristic curve (AUROC) of the MELD3.0 and other models for predicting 3-month mortality. Additionally, we assessed the risk of cirrhosis-related complications according to the MELD3.0 score. Results: A total of 3,314 patients were included. The mean age was 55.9±11.3 years, and 70.2% of the patients were male. Within the initial 3 months, 220 patients (6.6%) died, and the MELD3.0had the best predictive performance among the tested models, with an AUROC of 0.851, outperforming the Child-Pugh classification, ALBI grade, MELD, and MELDNa. A high MELD3.0score was associated with an increased risk of mortality. Compared with that of the group with a MELD3.0 score <10 points, the adjusted hazard ratio of the group with a score of 10–20 pointswas 2.176, and that for the group with a score of ≥20 points was 4.892. Each 1-point increase inthe MELD3.0 score increased the risk of cirrhosis-related complications by 1.033-fold. The risk of hepatorenal syndrome showed the highest increase, with an adjusted hazard ratio of 1.149, followed by hepatic encephalopathy and ascites. Conclusions The MELD3.0 demonstrated robust prognostic performance in predicting mortality in patients with cirrhosis. Moreover, the MELD3.0 score was linked to cirrhosis-related complications, particularly those involving kidney function, such as hepatorenal syndrome and ascites.

Selecting the optimal surgical treatment for multilevel cervical spondylotic myelopathy and radiculopathy significantly affects symptom improvement, postoperative prognosis, and quality of life. Proper patient selection and precise surgical execution are crucial for achieving successful outcomes, considering the favorable natural course of cervical radiculopathy. Several factors must be considered, including the number of affected segments, spinal alignment, kyphosis degree, stiffness, and surgeon expertise, when determining the surgical approach for cervical spondylotic myelopathy. An anterior approach is commonly used in cases that involve fewer than three segments with mild kyphosis, whereas posterior laminoplasty or anterior cervical discectomy and fusion (ACDF) are effective for cases with more than three segments with maintained lordosis. Both the degree of stiffness and spinal cord compression need to be considered for cases with kyphotic deformity. ACDF may be suitable when anterior structures are the primary source of compression and mild kyphosis is present. The decision between laminoplasty or laminectomy and fusion depends on the kyphosis degree for multilevel compression with kyphosis. An evaluation of cervical rigidity is required for severe kyphosis, and posterior laminectomy and fusion may be effective for flexible kyphosis, whereas a staged posterior–anterior–posterior approach may be required for rigid kyphosis to address both deformity and neural compression. This review summarizes recent research and presents illustrative cases of optimal surgical decision-making for various cervical spondylotic radiculopathy and myelopathy presentations.

Background and Objectives: The risk profiles, procedural characteristics, and clinical outcomes for women undergoing bifurcation percutaneous coronary intervention (PCI) are not well defined compared to those in men. Methods: COronary BIfurcation Stenting III (COBIS III) is a multicenter, real-world registry of 2,648 patients with bifurcation lesions treated with second-generation drug-eluting stents.We compared the angiographic and procedural characteristics and clinical outcomes based on sex. The primary outcome was 5-year target lesion failure (TLF), a composite of cardiac death, myocardial infarction, and target lesion revascularization. Results: Women (n=635, 24%) were older, had hypertension and diabetes more often, and had smaller main vessel and side branch reference diameters than men. The pre- and post-PCI angiographic percentage diameter stenoses of the main vessel and side branch were comparable between women and men. There were no differences in procedural characteristics between the sexes. Women and men had a similar risk of TLF (6.3% vs. 7.1%, p=0.63) as well as its individual components and sex was not an independent predictor of TLF. This finding was consistent in the left main and 2 stenting subgroups. Conclusions In patients undergoing bifurcation PCI, sex was not an independent predictor of adverse outcome.

Purpose: To evaluate the compatibility and usability of test results obtained from the IDRA and Keratograph 5M in clinical settings by comparing their performance in patients with dry eye disease. Methods: From December 27 to 30, 2022, a study was conducted on 30 patients diagnosed with dry eye utilizing both the Keratograph 5M and IDRA devices. The parameters compared and analyzed included lipid layer thickness, tear meniscus height, tear film break-up time, and meibography. A paired t-test was used for statistical comparison. The lipid layer thickness in the Keratograph 5M was graded on a scale from 0 to 4 based on thickness. Results: No significant differences were found between the two devices in tear film break-up time, tear meniscus height, and meibography (p = 0.148, 0.072, 0.124, respectively). However, the tear lipid layer thickness measured by IDRA showed a proportional relationship with the grade assigned by the Keratograph 5M (Kendall R = 0.217, p = 0.037; Spearman R = 0.260, p = 0.045). Conclusions The IDRA device offers the advantage of performing multiple dry eye tests; simultaneously, thereby saving time compared to the Keratograph 5M. Both devices can be used compatibly with IDRA particularly advantageous for providing a numerical value for tear lipid layer thickness which enhances the convenience of dry eye diagnosis and treatment.

Purpose: We report a case of bilateral nasal and temporal four-site scleromalacia following cosmetic conjunctivectomy, successfully managed with simultaneous restoration surgery at all four sites using autologous tragal perichondrium and preserved scleral graft.Case summary: A 56-year-old woman who underwent cosmetic conjunctivectomy on both eyes 15 years earlier, presented with intermittent eye pain. Examination revealed scleromalacia with calcium plaques in all four nasal and temporal scleral areas. The most extensive avascular area was in the nasal region of the right eye, and the most prominent uveal exposure was in the nasal area of the left eye. Considering the lesion and exposure sizes of the avascular zone and uvea exposure, preserved sclera was transplanted to the temporal and nasal areas of the right eye, while autologous tragal perichondrium was transplanted to the nasal area of the left eye. Tenon's capsule vessels were fixed with pedicle flaps in all four surgical areas for vascularization. Frozen amniotic membrane was transplanted in the nasal area of the left eye, where the conjunctival defect was substantial, and in the lateral area of the left eye, where no graft was used. The conjunctival epithelium was closed using autologous conjunctival flaps in all four areas. Post-surgery, successful engraftment and vascularization of the graft materials were observed in both eyes. Conclusions Even with multiple areas of scleromalacia in both eyes, successful results can be achieved during simultaneous surgery if an appropriate graft material is selected and the surgery is performed utilizing principles of tissue restoration.

Obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) syndrome is a rare Müllerian duct anomaly, commonly characterized by uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis. While these are the three most common genitourinary anomalies in OHVIRA syndrome, a spectrum of urogenital anomalies can be present. Knowledge of this spectrum is crucial for proper patient management and treatment planning. In this case series, we report on five patients with OHVIRA syndrome, each presenting with a urogenital anomaly other than the typical renal agenesis or uterus didelphys. We highlight the gynecological complications encountered, which clinicians and radiologists should be aware of.

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.