Feasibility of oral doxycycline as first-line therapy for conjunctival mucosa-associated lymphoid tissue lymphoma.

OBJECTIVES: To investigate the long-term outcomes of oral doxycycline as first-line treatment in patients with conjunctival extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma). METHODS: In this case series, the medical records of 67 patients with conjunctival MALT lymphoma who received doxycycline as their primary treatment and were followed up for at least 5 years were retrospectively reviewed. Progression-free survival (PFS) was analysed at 3, 5, and 10 years after the initial doxycycline treatment. A Cox proportional hazards model was used to assess the independent risk factors for progression. RESULTS: After the initial treatment, 25 patients (37.3%) achieved a complete response, 8 patients (11.9%) achieved a partial response, 30 patients (44.8%) showed stable disease, and 4 patients (6.0%) showed disease progression. The median PFS in all patients was 168 months, and the 3-, 5- and 10-year PFS rates for all patients were 70%, 65%, and 62%, respectively. No further progression was observed 6 years after the initial doxycycline treatment. Younger age and TNM stage T1c were significant risk factors for the time to progression in the multivariate Cox regression analysis (p < 0.05). Additional doxycycline (>2 cycles) showed no benefit. There were no serious adverse events associated with doxycycline therapy, and most patients were successfully salvaged by second-line treatments, including radiotherapy and chemotherapy. CONCLUSION: In this case series, oral doxycycline treatment yielded acceptable long-term PFS with minimal complications. Especially in patients with stage T1a or T1b conjunctival MALT lymphoma, first-line doxycycline treatment could be considered under close monitoring for at least 6 years.

Does the Probability of Survival Calculated by the Trauma and Injury Severity Score Method Accurately Reflect the Severity of Neurotrauma Patients Admitted to Regional Trauma Centers in Korea?

BACKGROUND: Assessing and improving the quality of trauma care is crucial in modern trauma systems and centers. In Korea, evaluations of regional trauma centers are conducted annually to assess and improve trauma management quality. This includes using the Trauma and Injury Severity Score (TRISS) method to calculate the W-score and mortality Observed-to-Expected ratio (O:E ratio), which are used to evaluate the quality of care. We analyzed the potential for overestimation of the probability of survival using TRISS method for patients with neurotrauma, as well as the potential for errors when evaluating and comparing regional trauma centers. METHODS: We included patients who visited the regional trauma center between 2019 and 2021 and compared their probability of survival of the TRISS method, W-score, mortality O:E ratio, and misclassification rates. The patient groups were further subdivided into smaller subgroups based on age, Glasgow Coma Scale (GCS), and Injury Severity Score, and comparisons were made between the neurotrauma and non-neurotrauma groups within each subgroup. RESULTS: A total of 4,045 patients were enrolled in the study, with 1,639 of them having neurotrauma. The neurotrauma patient group had a W-score of -0.68 and a mortality O:E ratio of 1.044. The misclassification rate was found to be 13.3%, and patients with a GCS of 8 or less had a higher misclassification rate of 37.4%. CONCLUSION: The limitations of using the TRISS method for predicting outcomes in patients with severe neurotrauma are exposed in this study. The TRISS methodology demonstrated a high misclassification rate of approximately 40% in subgroups of patients with GCS less than 9, indicating that it may be less reliable in predicting outcomes for severely injured patients with low GCS. Clinicians and researchers should be cautious when using the TRISS method and consider alternative methods to evaluate patient outcomes and compare the quality of care provided by different trauma centers.

Natural History of Optic Disc With Physiologic Large Cup: Incidence, Predictors of Glaucoma Conversion After Minimum 10-Year Follow-up.

PURPOSE: To investigate the natural history of optic disc with physiologic large cup (PLC) (ie, vertical cup/disc ratio [VCDR] ≥0.6 without retinal nerve fiber layer defect) and the risk factors for glaucoma conversion. DESIGN: Observational retrospective cohort study. METHODS: Subjects who underwent a health screening examination at Seoul National University Hospital Healthcare System Gangnam Center from 2003 to 2010 (n = 76,030) were involved. The prevalence of PLC in the cohort was analyzed. The incidence rate of glaucoma conversion was estimated per 100 person-years among cases with a follow-up period longer than 10 years. Multivariate Cox proportional hazards regression was used to identify ocular and systemic factors associated with glaucoma conversion. RESULTS: Among 74,617 eligible subjects, 3569 subjects (4.8%) had PLC. Of those with a follow-up period longer than 10 years (n = 859), the incidence rate of glaucoma conversion was 0.95 per 100 person-years. A total of 12.1% of PLC eyes progressed to glaucoma after 8.7 ± 3.9 years (range, 2.0-16.5 years). Higher VCDR (adjusted hazard ratio [aHR] = 4.36; 95% CI = 2.675-7.103), violation of the inferior superior nasal temporal neuroretinal rim thickness rule (aHR = 1.86; 95% CI = 1.057-3.258), presence of retinal arterial sclerosis (aHR = 1.63; 95% CI = 1.040-2.550), and lower total bilirubin level (aHR = 0.58; 95% CI = 0.340-0.991) were associated with glaucoma development. CONCLUSION: This study identified the prevalence of PLC as well as the incidence rate of glaucoma conversion and the risk factors for glaucoma development in PLC eyes. The natural history of PLC may help clinicians to better understand its risk factors and the specific management needs of their patients.

Intraocular lens power calculation in eyes with a shallow anterior chamber depth and normal axial length.

We compared the accuracy of three intraocular lens (IOL) calculation formulas in eyes with a shallow anterior chamber depth (ACD) and normal axial length (AXL) and control eyes. We retrospectively reviewed eyes with a shallow ACD (<2.5 mm from the corneal epithelium) with normal AXL (22.5≤AXL<24.0 mm) and controls (3.0≤ACD<3.5 mm and normal AXL). Prediction error (PE) and median absolute error (MedAE) were evaluated with SRK/T, Barrett Universal II (BUII), and Kane formulas after adjusting the mean PE to zero for all patients. Percentages of eyes achieving a PE within 0.25 to 1.00 D, and correlations between ACD, lens thickness (LT), and PE were analyzed. Thirty-five shallow ACD and 63 control eyes were included. PE in the shallow ACD group showed more hyperopic results with BUII and Kane but not with SRK/T compared to controls. Within the shallow ACD group, PE showed more hyperopic results in BUII and Kane compared to SRK/T. However, the standard deviation (SD) of PE among formulas was not different. In the shallow ACD group, SRK/T showed a higher percentage of PE within 0.25 D than BUII and Kane, but the percentages within 0.50 to 1.00 D were similar. PE was negatively correlated with ACD in BUII and Kane, and positively correlated with LT in all formulas. BUII and Kane may induce slight hyperopic shift in eyes with a shallow ACD and normal AXL. However, the performance of the three formulas was comparable in the shallow ACD group in terms of MedAE, the SD of PE, and the percentage of eyes achieving PE within 0.50 D.

The role of retinal vessel geometry as an indicator of systemic arterial stiffness assessed by cardio-ankle vascular index.

Objective: To determine whether retinal vessel geometry is associated with systemic arterial stiffness, as determined by the cardio-ankle vascular index (CAVI). Methods: This single-center retrospective cross-sectional study included 407 eyes of 407 subjects who underwent routine health exams, including CAVI and fundus photography. Retinal vessel geometry was measured using a computer-assisted program (Singapore "I" Vessel Assessment). Subjects were classified into two groups based on CAVI values: high CAVI (≥9) or low CAVI (<9). The main outcome measures included the association of retinal vessel geometry and CAVI value evaluated using multivariable logistic regression models. Results: Three hundred forty-three subjects (343, 84.3%) were in the low CAVI group, and 64 (15.7%) subjects were in the high CAVI group. Multivariable logistic linear regression analyses adjusted for age, sex, body mass index, smoking status, mean arterial pressure, and the presence of hypertension, diabetes mellitus, and dyslipidemia showed a significant association between high CAVI values and the following retinal vessel geometry parameters: central retinal arteriolar equivalent caliber (CRAE; adjusted odds ratio [AOR], 0.95; 95% confidence interval [CI], 0.89-1.00; P = 0.043), fractal dimension of arteriolar network (FDa; AOR, 4.21 × 10-4; 95% CI, 2.32 × 10-7-0.77; P = 0.042), and arteriolar branching angle (BAa; AOR, 0.96; 95% CI, 0.93-0.99; P = 0.007). Conclusions: Increased systemic arterial stiffness had a significant association with retinal vessel geometry related to arterial narrowing (CRAE), less branching complexity of the arterial tree (FDa), and acute arteriolar bifurcation (BAa).

Etiology and outcome of penetrating keratoplasty in bullous keratopathy post-cataract surgery vs post-glaucoma surgery.

PURPOSE: To investigate the causes of bullous keratopathy (BK) in the Korean population and analyze the results of penetrating keratoplasty (PK) in BK eyes associated with the top two causes: pseudophakic bullous keratopathy (PBK) and glaucoma surgery-associated BK (GBK). METHODS: Medical records were reviewed of patients diagnosed with BK at a tertiary referral center between 2010 and 2020. The predisposing conditions, clinical characteristics and therapeutic outcomes after PK were analyzed and compared. RESULTS: Of total 340 BK eyes, 70% (238 eyes) were associated with ocular surgery; most commonly, cataract surgery (48%, 162 eyes) and glaucoma surgery/laser (21%, 70 eyes). The BK onset was faster following glaucoma surgery/laser (91.7 ± 94.4 months) than following cataract surgery (160.7 ± 138.0 months, p < 0.001). The median survival time of allografts was shorter in GBK than in PBK (24.0 vs 51.0 months, p = 0.020). Best-corrected logMAR visual acuities were lower in GBK than in PBK after PK (1.4 ± 0.7 vs 0.9 ± 0.6, p = 0.017 at one year; 1.8 ± 0.7 vs 1.1 ± 0.8, p = 0.043 at three years). CONCLUSIONS: Intraocular surgery is the major predisposing condition of BK in Korea. GBK developed earlier and its therapeutic outcome was poorer, compared to PBK.

Effect of pterygium on corneal astigmatism, irregularity and higher-order aberrations: a comparative study with normal fellow eyes.

Pterygium is an abnormal growth of fibrous conjunctival tissue that invades the cornea, resulting in corneal distortion, astigmatism, and increased higher-order aberrations (HOAs). However, few studies have compared eyes with pterygium to normal fellow eyes when interpreting HOAs and there is no study that revealed the effect of the thickness or grading of the pterygium on the change of HOAs. Therefore, we evaluated the effects of nasal pterygium by comparing the normal fellow eye of 59 patients. The pterygium significantly increased with-the-rule corneal astigmatism and corneal irregularity. Trefoils, horizontal coma, and quatrefoils were significantly induced by the pterygium. The grading of the pterygium was not correlated with its characteristics except for the thickness. In multiple linear regression analysis, pterygium-induced corneal astigmatic/irregularity values and horizontal trefoil/quatrefoil were associated with the area of the pterygium. The length of the pterygium was an independent inducer of oblique trefoil/quatrefoil, while horizontal coma was independently associated with both its length and width. The thickness was not correlated with any optical parameters. Together, the results demonstrate that nasal pterygium significantly induces corneal astigmatism, irregularity and some HOAs. These pterygium-associated changes in optical parameters could be predicted by the length, width and area of the pterygium.

Characteristics of Patients With Traumatic Brain Injury in a Regional Trauma Center: A Single-Center Study.

Objective: The regional trauma center (RTC) in our hospital was established in November 2015. The Korean Trauma Data Bank (KTDB) was established in 2013 and maintains a prospective database. In this study, based on KTDB data, we investigated the characteristics of traumatic brain injury (TBI) in patients who visited our RTC. Methods: Between 2017 and 2021, we analyzed the data of 1,939 patients with TBI. Demographic characteristics of patients were recorded, and variables such as transfer information, mechanism of injury, severity, occupational relevance, multiple trauma, and surgery were analyzed. Hospital length of stay (LOS), fatality, and Glasgow outcome scale (GOS) were analyzed to confirm treatment outcomes. Results: This study enrolled 1,939 patients with a median age of 58 years and male predominance (75.5%). The transfer time decreased (from 1.95 hours to 1.1 hours) following an increase in the frequency of direct transfers to our hospital each year. Motor vehicle-related accidents (48.4%) were implicated as the most common cause, and the severity of TBI showed an increasing trend each year. The outcomes confirmed that the fatality rate and GOS scores deteriorated. The mean LOS in the hospital was 26.92 days, with a fatality rate of 23.6% (458 patients). Conclusion: In this study, we investigated characteristics and treatment outcomes associated with TBI. Our research confirms that patients with TBI are currently well triaged at the accident site and rapidly transferred to our RTC. Follow-up studies are necessary to establish strategies for improved treatment outcomes.

Current Status of Intracranial Pressure Monitoring in Patients with Severe Traumatic Brain Injury in Korea : A Post Hoc Analysis of Korea Neurotrauma Databank Project with a Nationwide Survey.

OBJECTIVE: This study aimed to investigate the current status of intracranial pressure (ICP) monitoring in patients with severe traumatic brain injury (sTBI) in Korea and the association between ICP monitoring and prognosis. In addition, a survey was administered to Korean neurosurgeons to investigate the perception of ICP monitoring in patients with sTBI. METHODS: This study used data from the second Korea Neurotrauma Databank. Among the enrolled patients with sTBI, the following available clinical data were analyzed in 912 patients : Glasgow coma scale score on admission, ICP monitoring, mortality, and extended Glasgow outcome scale score at 6 months. In addition, we administered a survey, entitled "current status and perception of ICP monitoring in Korean patients with sTBI" to 399 neurosurgeons who were interested in traumatic brain injury. RESULTS: Among the 912 patients, 79 patients (8.7%) underwent ICP monitoring. The mortality and favorable outcome were compared between the groups with and without ICP monitoring, and no statistically significant results were found. Regarding the survey, there were 61 respondents. Among them, 70.4% of neurosurgeons responded negatively to performing ICP monitoring after craniectomy/craniotomy, while 96.7% of neurosurgeons responded negatively to performing ICP monitoring when craniectomy/ craniotomy was not conducted. The reasons why ICP monitoring was not performed were investigated, and most respondents answered that there were no actual guidelines or experiences with post-operative ICP monitoring for craniectomy/craniotomy. However, in cases wherein craniectomy/craniotomy was not performed, most respondents answered that ICP monitoring was not helpful, as other signs were comparatively more important. CONCLUSION: The proportion of performing ICP monitoring in patients with sTBI was low in Korea. The outcome and mortality were compared between the patient groups with and without ICP monitoring, and no statistically significant differences were noted in prognosis between these groups. Further, the survey showed that ICP monitoring in patients with sTBI was somewhat negatively recognized in Korea.

Structure-function relationship in glaucoma: Optical coherence tomography en face imaging vs. red-free fundus photography.

BACKGROUND/OBJECTIVES: To analyse retinal nerve fibre layer (RNFL) defect measurements obtained from red-free fundus photography and optical coherence tomography (OCT) en face imaging, respectively, and to compare them for the strength of the structure-function association. SUBJECTS/METHODS: Two hundred and fifty-six glaucomatous eyes of 256 patients with localized RNFL defect on red-free fundus photography were enrolled. A subgroup analysis included 81 highly myopic eyes (≤ -6.0 dioptres). Angular width of RNFL defect was compared between red-free fundus photography (i.e., red-free RNFL defect) and OCT en face imaging (i.e., en face RNFL defect). The correlation between angular width of each RNFL defect and functional outcomes, reported as mean deviation (MD) and pattern standard deviation (PSD), were assessed and compared. RESULTS: The angular width of en face RNFL defect was measured smaller than that of red-free RNFL defect in 91.0% eyes (mean difference, 19.98°). The association of en face RNFL defect with MD and PSD was stronger (R2 = 0.311 and R2 = 0.372, respectively) than that of red-free RNFL defect with MD and PSD (R2 = 0.162 and R2 = 0.137, respectively) (P < 0.05 for all). Especially in highly myopic eyes, the association of en face RNFL defect with MD and PSD was much stronger (R2 = 0.503 and R2 = 0.555, respectively) than that of red-free RNFL defect with MD and PSD (R2 = 0.216 and R2 = 0.166, respectively) (P < 0.05 for all). CONCLUSIONS: En face RNFL defect showed a higher correlation with severity of visual field loss than did red-free RNFL defect. The same dynamic was observed for highly myopic eyes.

Screening fundus photography predicts and reveals risk factors for glaucoma conversion in eyes with large optic disc cupping.

This study aimed to investigate the risk factors for glaucoma conversion and progression in eyes with large optic disc cupping without retinal nerve fiber layer defect (RNFLD). Five hundred forty-two eyes of 271 subjects who had a vertical cup-to-disc ratio (CDR) ≥ 0.6 without RNFLD were enrolled. Characteristics for optic disc configuration (including CDR, vertical cupping, ISNT rule, disc ovality, peripapillary atrophy [PPA]-to-disc area [DA] ratio, and lamina cribrosa pore visibility) and blood vessels (including central retinal vessel trunk [CRVT] nasalization, bayoneting of vessels, baring of circumlinear vessels, history of disc hemorrhage [DH] and vessel narrowing/sclerotic change) were evaluated. From a median follow-up of 11.3 years, 26.6% of eyes (n = 144) developed RNFLD within a median of 5.1 years. Baseline factors, including vertical CDR ≥ 0.7 (hazard ratio [HR] = 2.12), vertical cupping (HR = 1.93), ISNT rule violation (HR = 2.84), disc ovality ≥ 1.2 (HR = 1.61), PPA-to-DA ratio ≥ 0.4 (HR = 1.77), CRVT nasalization ≥ 60% (HR = 1.77), vessel narrowing/sclerotic change (HR = 2.13), DH history (HR = 5.60), and baseline intraocular pressure ≥ 14 mmHg (HR = 1.70) were significantly associated with glaucoma conversion (all Ps < 0.05). An HR-matched scoring system based on initial fundus photography predicted glaucoma conversion with specificity of 90.4%. Careful examination of the optic nerve head and vascular structures can help to predict the risk of glaucoma conversion in eyes with large optic disc cupping.

Shunt Malfunction Without Device Occlusion: A Case Report.

Shunt malfunction is the most common cause of ventriculoperitoneal shunt failure. In literature, occlusion of the tube with brain parenchyma, choroid plexus, blood, and proteinaceous debris has been suggested as a mechanism of obstruction. We herein report a case of shunt malfunction without any identifiable occlusion. Our case findings suggest that unapparent abdominal pathology, including inflammation and fibrosis, should be considered when treating shunt failures.

Prognosis Prediction in Severe Traumatic Brain Injury According to Initial Time of Brain Computed Tomography Scan Using the Rotterdam Scoring System.

Objective: The Rotterdam scoring system (RSS) is useful for prognosis prediction in patients with severe traumatic brain injury (sTBI). It comprises basal cistern, midline shifting (MLS), epidural hematoma (EDH), and subarachnoid hemorrhage (SAH)/intraventricular hemorrhage (IVH) status. Brain computed tomography (CT) is important to assessing patients with sTBI; however, results often change over time. We aimed to determine whether RSS outcome prediction differs by initial brain CT scan time after the trauma in patients with sTBI. Methods: We used data from the second Korea Neurotrauma Data Bank, and analyzed 455 patients; RSS, Glasgow Outcome Scale Extended (GOSE) on 6-months, and the CT scan time were obtained. Unfavorable outcomes were defined as a GOSE score of 1-4. Participants were divided into 2 groups according to when brain CT scan was performed (> or ≤ 2 hours after trauma). The relationship between the prognosis of patients with sTBI and RSS score was examined by calculating the odds ratios. Univariate and multivariate analyses were performed. Results: In both univariate and multivariate analysis, the total RSS and basal cistern status were statistically correlated with prognosis in both groups. EDH and SAH/IVH showed statistically significant difference according to CT scan time. MLS was associated with prognosis in both groups in univariate analysis although not in multivariate analysis. Conclusion: The total RSS score predicted prognosis 6 months after trauma in patients with sTBI, regardless of CT scan time. However, the prognostic predictive power of each item constituting the RSS varied according to CT scan time.

Demographics Prediction and Heatmap Generation From OCT Images of Anterior Segment of the Eye: A Vision Transformer Model Study.

Purpose: To predict demographic characteristics from anterior segment optical coherence tomography (AS-OCT) images of eyes using a Vision Transformer (ViT) model. Methods: A total of 2970 AS-OCT images were used to train, validate, and test a ViT to predict age and sex, and 2616 images were used for height, weight, and body mass index (BMI). The main outcome measure was the area under the receiver operating characteristic curve (AUC) of the ViT. Results: The ViT achieved the largest AUC (0.910) for differentiating age ≤75 versus >75 years, followed by age ≤60 versus 60-75 versus >75 years (AUC, 0.844), and for discriminating sex (AUC, 0.665). The prediction abilities for the other demographic characteristics were lower: an AUC of 0.521 for classifying height ≤170 versus >170 cm in males and ≤155 versus >155 cm in females; 0.522 for weight <70 versus ≥70 kg in males and 0.503 for <55 versus ≥55 kg in females, and 0.517 for BMI <23 versus 23-25 versus ≥25 kg/m2. Heatmaps highlighted the area of the iridocorneal angle for its contribution to the prediction of age ≤75 versus >75 years. Conclusions: Although the ViT demonstrated a good ability to classify age from AS-OCT images, it performed poorly for sex, height, weight, and BMI. The heatmap obtained of the prediction will provide clues to understanding the age-related anterior segment changes in eyes. Translational Relevance: The ViT can determine age-related anterior segment structural changes using AS-OCT images, which will aid clinicians in the management of ocular diseases.

The Addition of ROTEM Parameter Did Not Significantly Improve the Massive Transfusion Prediction in Severe Trauma Patients.

Background: Rotational thrombelastometry (ROTEM) has been used to evaluate the coagulation state, predict transfusion, and optimize hemostatic management in trauma patients. However, there were limited studies on whether the prediction value could be improved by adding the ROTEM parameter to the prediction model for in-hospital mortality and massive transfusion (MT) in trauma patients. Objective: This study assessed whether ROTEM data could improve the MT prediction model. Method: This was a single-center, retrospective study. Patients who presented to the trauma center and underwent ROTEM between 2016 and 2020 were included. The primary and secondary outcomes were massive transfusions and in-hospital mortality, respectively. We constructed two models using multivariate logistic regression with backward conditional stepwise elimination (Model 1: without the ROTEM parameter and Model 2: with the ROTEM parameter). The area under the receiver operating characteristic curve (AUROC) was calculated to assess the predictive ability of the models. Result: In total, 969 patients were included; 196 (20.2%) received MT. The in-hospital mortality rate was 14.1%. For MT, the AUROC was 0.854 (95% confidence interval [CI], 0.825-0.883) and 0.860 (95% CI, 0.832-0.888) for Model 1 and 2, respectively. For in-hospital mortality, the AUROC was 0.886 (95% CI, 0.857-0.915) and 0.889 (95% CI, 0.861-0.918) for models 1 and 2, respectively. The AUROC values for models 1 and 2 were not statistically different for either MT or in-hospital mortality. Conclusion: We found that the addition of the ROTEM parameter did not significantly improve the predictive power of MT and in-hospital mortality in trauma patients.

A Genome-Wide Association Study of Genetic Variants of Apolipoprotein A1 Levels and Their Association with Vitamin D in Korean Cohorts.

Dyslipidemia is an important independent risk factor for cardiovascular disease (CVD). Specifically, apolipoprotein A1 (ApoA1), apolipoprotein B (ApoB), and the ApoB/A1 ratio have been linked to CVD. We conducted a genome-wide association study meta-analysis of two Korean cohorts containing a total of 12,924 patients to identify novel single nucleotide polymorphisms (SNPs) associated with ApoA1 and ApoB levels and the ApoB/A1 ratio. Additionally, an expression quantitative trait locus (eQTL) and differentially expressed genes (DEGs) analysis were performed. The statistically significant eQTL, DEG, and Gene Ontology (GO) results were used to explore the predicted interaction networks and retrieve the interacting genes and proteins. We identified three novel SNPs (rs11066280, p = 3.46 × 10−21; rs1227162, p = 2.98 × 10−15; rs73216931, p = 5.62 × 10−9) associated with ApoA1. SNP rs73216931 was an eQTL for KMT5A in the pancreas and whole blood. The network analysis revealed that HECTD4 and MYL2:LINC1405 are associated with AKT1. Our in silico analysis of ApoA1 genetic variants revealed heart muscle-related signals. ApoA1 also correlated positively with vitamin D, and genes associated with ApoA1 and vitamin D were found. Our data imply that more research into ApoA1 is needed to understand the links between dyslipidemia and CVD and vitamin D and CVD.

Unveiling Genetic Variants Underlying Vitamin D Deficiency in Multiple Korean Cohorts by a Genome-Wide Association Study.

BACKGROUND: Epidemiological data have shown that vitamin D deficiency is highly prevalent in Korea. Genetic factors influencing vitamin D deficiency in humans have been studied in Europe but are less known in East Asian countries, including Korea. We aimed to investigate the genetic factors related to vitamin D levels in Korean people using a genome-wide association study (GWAS). METHODS: We included 12,642 subjects from three different genetic cohorts consisting of Korean participants. The GWAS was performed on 7,590 individuals using linear or logistic regression meta- and mega-analyses. After identifying significant single nucleotide polymorphisms (SNPs), we calculated heritability and performed replication and rare variant analyses. In addition, expression quantitative trait locus (eQTL) analysis for significant SNPs was performed. RESULTS: rs12803256, in the actin epsilon 1, pseudogene (ACTE1P) gene, was identified as a novel polymorphism associated with vitamin D deficiency. SNPs, such as rs11723621 and rs7041, in the group-specific component gene (GC) and rs11023332 in the phosphodiesterase 3B (PDE3B) gene were significantly associated with vitamin D deficiency in both meta- and mega-analyses. The SNP heritability of the vitamin D concentration was estimated to be 7.23%. eQTL analysis for rs12803256 for the genes related to vitamin D metabolism, including glutamine-dependent NAD(+) synthetase (NADSYN1) and 7-dehydrocholesterol reductase (DHCR7), showed significantly different expression according to alleles. CONCLUSION: The genetic factors underlying vitamin D deficiency in Korea included polymorphisms in the GC, PDE3B, NADSYN1, and ACTE1P genes. The biological mechanism of a non-coding SNP (rs12803256) for DHCR7/NADSYN1 on vitamin D concentrations is unclear, warranting further investigations.

First line Treatment of Traumatic Carotid Cavernous Fistulas Using Covered Stents at Level 1 Regional Trauma Center.

OBJECTIVE: The widely accepted treatment option of a traumatic carotid cavernous fistula (TCCF) has been detachable balloon or coils based fistula occlusion. Recently, covered stent implantation has been proving an excellent results. The purpose of this study is to investigate our experiences with first line choice of covered stent implantation for TCCF at level 1 regional trauma center. METHODS: From November 2004 to February 2020, 19 covered stents were used for treatment of 19 TCCF patients. Among them, 15 cases were first line treatment using covered stents. Clinical and angiographic data were retrospectively reviewed. RESULTS: Procedures were technically successful in all 15 cases (100%). Immediate angiographic results after procedure were total occlusion in 12 patients (80%). All patients except two expired patients had image follow-up (mean 15 months). Recurred symptomatic three patients underwent additional treatments and achieved complete occlusion. Mean clinical follow-up duration was 32 months and results were modified Rankin Scale 1-2 in five, 3-4 in five, and 5 in three patients. CONCLUSION: The covered stent could be considered as fist line treatment option for treating TCCF patients especially in unstable vital sign. Larger samples and expanded follow-up are required to further develop their specifications and indications.

Accuracy and reliability of measurements obtained with a noncontact tono-pachymeter for clinical use in mass screening.

We evaluated the reliability and accuracy of the noncontact CT-1P tonopachymeter (Topcon, Japan) in terms of intraocular pressure (IOP) and central corneal thickness (CCT). One hundred sixty-three healthy participants and 33 patients with open angle glaucoma were enrolled. IOPs were measured by CT-1P (T-IOP) and Goldmann applanation tonometer (G-IOP), and CCTs were measured by the CT-1P (T-CCT) and an ultrasound pachymeter (US-CCT). Both CCT instrument-adjusted (T-IOP-C) and unadjusted T-IOPs (T-IOP-NC) were included. Pearson correlation coefficients and biases assessed with Bland-Altman analysis with 95% confidence interval (CI) were calculated for reliability evaluation. Intrasession repeatability was excellent for both T-IOP (intraclass correlation coefficient [ICC] 0.91) and T-CCT (ICC 0.98). Intersession reproducibility was also excellent for T-CCT (ICC 0.94). T-IOP-NC and T-IOP-C both showed significant correlations with G-IOP (r = 0.801, P < 0.001 and r = 0.658, P < 0.001, respectively). T-CCT was also strongly correlated with US-CCT (r = 0.958; P < 0.001). T-IOP-NC and T-IOP-C both showed a positive bias (1.37 mmHg, 95% CI [1.14, 1.61] and 2.77 mmHg, 95% CI [2.49, 3.05], respectively). T-CCT showed a negative bias of - 17.3 µm (95% CI [-18.8, - 15.8]). With cautious interpretation, the CT-1P may offer good feasibility for IOP and CCT measurement in screening centers.