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Purpose@#Managing recurrent inguinal hernias is complex, and choosing the right surgical approach (laparoscopic vs. open) is vital for patient outcomes. This study compared the outcomes of using the same vs. different surgical approaches for initial and subsequent hernia repairs. @*Methods@#We retrospectively analyzed patients who underwent recurrent inguinal hernia repair at Seoul National University Bundang Hospital between January 2014 and May 2023. Patients were divided into the “concordant” and “discordant” groups, comprising patients who underwent same and different approaches in both surgeries, respectively. Preoperative baseline characteristics, index surgery data, postoperative outcomes, and recurrence rates were analyzed and compared. @*Results@#In total, 131 patients were enrolled; the concordant and discordant groups comprised 31 (open, n = 19; laparoscopic, n = 12) and 100 patients (open to laparoscopic, n = 68; laparoscopic to open, n = 32), respectively. No significant differences were observed in the mean operation time (50.5 ± 21.7 minutes vs. 50.2 ± 20.0 minutes, P = 0.979), complication rates (6.5% vs. 14.0%, P = 0.356), or 36-month cumulative recurrence rates (9.8% vs. 9.8%; P = 0.865). The mean postoperative hospital stay was significantly shorter in the discordant than in the concordant group (1.8 ± 0.7 vs. 1.4 ± 0.6, P = 0.003). @*Conclusion@#Most recurrent inguinal hernia repairs were performed using the discordant surgical approach. Overall, concordance in the surgical approach did not significantly affect postoperative outcomes. Therefore, the selection of the surgical approach based on the patient’s condition and surgeon’s preference may be advisable.
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Methods@#The symptomatic PSTS group received intravenous (IV) administration of dexamethasone or furosemide. The asymptomatic PSTS group did not receive any medication. Patients were divided into the control (no medication, n=31), Dexa (IV dexamethasone, n=25), and Furo (IV furosemide, n=28) groups. PSTS was checked daily with simple radiographs and medication-induced reductions in PSTS from its peak or after medication. @*Results@#The peak time (postoperative days) of PSTS in the control (2.27±0.47, p<0.05) and Dexa (1.91±0.54, p<0.01) groups were significantly later than that in the Furo group (1.38±0.74). PSTS was significantly lower in the Furo group than in the Dexa group from postoperative days 4 to 7 (p<0.05). PSTS reduction after the peak was significantly greater in the Furo group than in the control (p<0.01) and Dexa (p<0.01) groups. After starting the medication therapy, the Furo group showed a significantly greater reduction in PSTS than the Dexa group (p<0.01). No difference was found in symptom improvement among the three groups. @*Conclusions@#If furosemide is used to reduce PSTS after ACF, it can effectively reduce symptoms.
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Purpose@#We investigated the clinical impact of genomic and pathway alterations in stage I epidermal growth factor receptor (EGFR)–mutant lung adenocarcinomas, which have a high recurrence rate despite complete surgical resection. @*Materials and Methods@#Out of the initial cohort of 257 patients with completely resected stage I EGFR-mutant lung adenocarcinoma, tumor samples from 105 patients were subjected to analysis using large-panel next-generation sequencing. We analyzed 11 canonical oncogenic pathways and determined the number of pathway alterations (NPA). Survival analyses were performed based on co-occurring alterations and NPA in three patient groups: all patients, patients with International Association for the Study of Lung Cancer (IASLC) pathology grade 2, and patients with recurrent tumors treated with EGFR–tyrosine kinase inhibitor (TKI). @*Results@#In the univariate analysis, pathological stage, IASLC grade, TP53 mutation, NPA, phosphoinositide 3-kinase pathway, p53 pathway, and cell cycle pathway exhibited significant associations with worse recurrence-free survival (RFS). Moreover, RPS6KB1 or EGFR amplifications were linked to a poorer RFS. Multivariate analysis revealed that pathologic stage, IASLC grade, and cell cycle pathway alteration were independent poor prognostic factors for RFS (p=0.002, p < 0.001, and p=0.006, respectively). In the grade 2 subgroup, higher NPA was independently associated with worse RFS (p=0.003). Additionally, in patients with recurrence treated with EGFR-TKIs, co-occurring TP53 mutations were linked to shorter progression-free survival (p=0.025). @*Conclusion@#Genomic and pathway alterations, particularly cell cycle alterations, high NPA, and TP53 mutations, were associated with worse clinical outcomes in stage I EGFR-mutant lung adenocarcinoma. These findings may have implications for risk stratification and the development of new therapeutic strategies in early-stage EGFR-mutant lung cancer patients.
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Purpose@#This subgroup analysis of the Korean subset of patients in the phase 3 LASER301 trial evaluated the efficacy and safety of lazertinib versus gefitinib as first-line therapy for epidermal growth factor receptor mutated (EGFRm) non–small cell lung cancer (NSCLC). @*Materials and Methods@#Patients with locally advanced or metastatic EGFRm NSCLC were randomized 1:1 to lazertinib (240 mg/day) or gefitinib (250 mg/day). The primary endpoint was investigator-assessed progression-free survival (PFS). @*Results@#In total, 172 Korean patients were enrolled (lazertinib, n=87; gefitinib, n=85). Baseline characteristics were balanced between the treatment groups. One-third of patients had brain metastases (BM) at baseline. Median PFS was 20.8 months (95% confidence interval [CI], 16.7 to 26.1) for lazertinib and 9.6 months (95% CI, 8.2 to 12.3) for gefitinib (hazard ratio [HR], 0.41; 95% CI, 0.28 to 0.60). This was supported by PFS analysis based on blinded independent central review. Significant PFS benefit with lazertinib was consistently observed across predefined subgroups, including patients with BM (HR, 0.28; 95% CI, 0.15 to 0.53) and those with L858R mutations (HR, 0.36; 95% CI, 0.20 to 0.63). Lazertinib safety data were consistent with its previously reported safety profile. Common adverse events (AEs) in both groups included rash, pruritus, and diarrhoea. Numerically fewer severe AEs and severe treatment–related AEs occurred with lazertinib than gefitinib. @*Conclusion@#Consistent with results for the overall LASER301 population, this analysis showed significant PFS benefit with lazertinib versus gefitinib with comparable safety in Korean patients with untreated EGFRm NSCLC, supporting lazertinib as a new potential treatment option for this patient population.
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Purpose@#The present study aimed to evaluate the role of early and delayed surgery in congenital brain tumors and analyze the clinical outcomes of infantile brain tumors. @*Materials and Methods@#We performed a retrospective cohort study on 69 infantile brain tumors at a single institution from January 2008 to June 2023. Outcomes were assessed as early mortality (within 30 days following surgery) to evaluate the risk of early surgery in congenital brain tumors. Outcomes of recurrence and overall survival were analyzed in infantile brain tumors. @*Results@#Surgery-related early mortality appeared to occur in young and low-body-weight patients. Cut-off values of age and body weight were found to be 1.3 months and 5.2 kg to avoid early mortality. Three patients (3/10, 30%) showed early mortality in the early surgery group, and early mortality occurred in one patient (1/14, 7.14%) in the delayed surgery group, whose tumor was excessively enlarged. Younger age at diagnosis (< 3 months of age; hazard ratios [HR], 7.1; 95% confidence intervals [CI], 1.4 to 35.6; p=0.018) and leptomeningeal seeding (LMS; HR, 30.6; 95% CI, 3.7 to 253.1; p=0.002) were significant independent risk factors for high mortality in infantile brain tumors. @*Conclusion@#We suggest delaying surgery until the patient reaches 1.3 months of age and weighs over 5.2 kg with short-term imaging follow-up unless tumors grow rapidly in congenital brain tumors. Younger ages and the presence of LMS are independent risk factors for high mortality in infantile brain tumors.
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Background/Aims@#Guide tube-assisted endoscopy for procedures that require repeated endoscopic access is safer and more effective than conventional endoscopy. However, its effectiveness has not been confirmed in animal studies. We assessed the usefulness of guide tube-assisted endoscopic procedures in an in vivo porcine model. @*Methods@#Five different guide tube-assisted endoscopic procedures were performed by experienced endoscopists on a pig weighing 32 kg. To evaluate the efficacy of these procedures, we compared the endoscopic approach time when a guide tube was used to that when it was not. Additional endoscopic procedures using a guide tube were performed, including multiple foreign body extractions, multiple polypectomies, and multiple submucosal dissections. To evaluate safety, we compared the insertion force into the proximal esophagus between the guide tube and conventional overtube methods. @*Results@#Using the endoscopic approach with a guide tube required a shorter average approach time to reach the three target lesions than when using the endoscopic approach without a guide tube (p<0.001). Compared to the conventional overtube method, the guide tube method produced a lower average resistance during insertion into the upper esophagus (p<0.001). @*Conclusions@#Guide tube-assisted endoscopic procedures are effective and safe for repeated endoscopic access in an in vivo porcine model.
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Endoscopic retrograde cholangiopancreatography (ERCP) is a procedure that requires significant experiences and skills and has various procedure-related complications, some of which can be severe and even result in the death of patients. Expanding ERCP availability has the advantage of increasing accessibility for patients. However, ERCP poses a substantial risk if performed without proper quality management. ERCP quality management is essential for both ensuring safe and successful procedures and meeting the social demands for enhanced healthcare competitiveness and quality assurance. To address these concerns, the Korean Pancreatobiliary Association established a task force to develop ERCP quality indicators (QIs) tailored to the Korean medical environment. Key questions for five pre-procedure, three intra-procedure, and four post-procedure measures were formulated based on a literature search related to ERCP QIs and a comprehensive clinical review conducted by experts. The statements and recommendations regarding each QI item were selected through peer review. The developed ERCP QIs were reviewed by external experts based on the latest available evidence at the time of development.These domestically tailored ERCP QIs are expected to contribute considerably to improving ERCP quality in Korea.
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Background@#During the lockdown period associated with the coronavirus disease 2019 (COVID-19) pandemic, increased mortality rates among patients with COVID-19 have been reported. This study aimed to analyze the mortality rate of osteoporotic hip fractures in patients who were COVID-19-positive after the lockdown during the Omicron period. @*Methods@#A retrospective study was performed with 194 patients who were aged 70 years or more and diagnosed with osteoporotic hip fracture. The patients were divided into two groups according to their COVID-19 diagnoses. Surgery was performed within 10 days of diagnosis. Age, sex, past medical history, time until surgery, postoperative complications, and the primary outcome of mortality rate at 30 and 90 days were analyzed. @*Results@#Among the 194 patients, 13 and 181 were in the COVID-19-positive and negative group, respectively. The total, 30-day, and 90-day mortality rates in the control and COVID-positive group were 11% and 0% (P=0.368), 1.7% and 0% (P=1.000), and 5.0% and 0% (P=1.000), respectively. No significant differences were observed in age, sex, history, time to surgery, postoperative complications, or postoperative mortality. In 1:1 propensity score matching, the time to surgery was 5.34 days in patients who were COVID-19-positive, and 3.00 days in patients who were COVID-19 negative, with no statistical significance (P=0.09). Age, sex, medical history, postoperative complications, and postoperative mortality were not significantly different between the groups. @*Conclusions@#Regardless of the COVID-19 diagnosis, surgical treatment without delay is believed to result in positive outcomes in older patients with osteoporotic hip fractures, as no significant differences in mortality rate and respiratory complications were observed between patients who were COVID-19-positive and those who were COVID-19 negative.
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Background@#The advent of the omicron variant and the formulation of diverse therapeutic strategies marked a new epoch in the realm of coronavirus disease 2019 (COVID-19). Studies have compared the clinical outcomes between COVID-19 and seasonal influenza, but such studies were conducted during the early stages of the pandemic when effective treatment strategies had not yet been developed, which limits the generalizability of the findings.Therefore, an updated evaluation of the comparative analysis of clinical outcomes between COVID-19 and seasonal influenza is requisite. @*Methods@#This study used data from the severe acute respiratory infection surveillance system of South Korea. We extracted data for influenza patients who were infected between 2018 and 2019 and COVID-19 patients who were infected in 2021 (pre-omicron period) and 2022 (omicron period). Comparisons of outcomes were conducted among the pre-omicron, omicron, and influenza cohorts utilizing propensity score matching. The adjusted covariates in the propensity score matching included age, sex, smoking, and comorbidities. @*Results@#The study incorporated 1,227 patients in the pre-omicron cohort, 1,948 patients in the omicron cohort, and 920 patients in the influenza cohort. Following propensity score matching, 491 patients were included in each respective group. Clinical presentations exhibited similarities between the pre-omicron and omicron cohorts; however, COVID-19 patients demonstrated a higher prevalence of dyspnea and pulmonary infiltrates compared to their influenza counterparts. Both COVID-19 groups exhibited higher in-hospital mortality and longer hospital length of stay than the influenza group. The omicron group showed no significant improvement in clinical outcomes compared to the pre-omicron group. @*Conclusion@#The omicron group did not demonstrate better clinical outcomes than the pre-omicron group, and exhibited significant disease severity compared to the influenza group. Considering the likely persistence of COVID-19 infections, it is imperative to sustain comprehensive studies and ongoing policy support for the virus to enhance the prognosis for individuals affected by COVID-19.
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Background@#While the effect of gatekeeping was extensively studied, few efforts have been made to explain why the measures to strengthen gatekeeping do not work well in some countries. This study examined the patient factors related to the choice of level of health care facilities for outpatient care in Korea. @*Methods@#We examined a population-based sample representative of the population of Korea aged 15 and over in the healthcare experience survey of 2021. A logistic regression model examined the factors associated with choosing hospitals or clinics for outpatient care. @*Results@#Easy accessibility, kindness of medical staff, and recommendations from acquaintances were considered more important for those who chose clinics over hospitals.While those who chose clinics were more likely to feel that physicians and nurses more readily communicated with patients, those who chose hospitals were more likely to feel that the facility was comfortable. Whereas those who chose hospitals were more likely to trust the current health care system in Korea, those who chose clinics were more likely to think that the health care system needed to be reformed. The tendency was similar when analyzed only among those with good perceived health conditions and without chronic diseases. @*Conclusion@#This study demonstrates that the preference for hospitals over clinics is mainly based on desire rather than medical need and is not likely to be affected by measures intended to induce a voluntary change of behavior.
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Background@#Multiple myeloma (MM) patients are at risk of skeletal-related events (SREs) like spinal cord compression, pathologic fractures, bone surgery, and radiation to bone. Realworld data regarding SREs in MM are limited. @*Methods@#We conducted a large, retrospective, nationwide cohort study using the Korean Health Insurance Review and Assessment Service (HIRA) database from 2007 to 2018. @*Results@#Over a 12-year study period, we identified 6,717 patients who developed symptomatic MM. After a median follow-up of 35.1 months (interquartile range [IQR], 20.8–58.2 months), 43.6% of these patients experienced SREs, and 39.6% had four or more SREs. One in five patients (20.0%) experienced pathologic fractures within the first year of follow-up. The median time to first SRE was 9.6 months (IQR, 1.2–25.8 months), with 3.0 months in the group with prior SREs and 19.8 months in the group without prior SREs.During follow-up, 78.5% of patients received bisphosphonates. Multiple logistic regression analysis revealed several factors associated with an increased risk of SREs, including being female (odds ratio [OR], 1.44), aged 50 or older (OR, 1.87), having cerebrovascular disease (OR, 1.34), undergoing first-line chemotherapy regimens not containing bortezomib or lenalidomide (OR, 1.49), and being in the group with prior SREs and bisphosphonate use (OR, 5.63), compared to the group without prior SREs and without bisphosphonate use. @*Conclusion@#This population-based study is the first to report the incidence and risk factors of SREs in Korean MM patients, which can be used to assess their bone health.
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Objective@#: Recently, robotic-assisted spine surgery (RASS) has been considered a minimally invasive and relatively accurate method. In total, 495 robotic-assisted pedicle screw fixation (RAPSF) procedures were attempted on 100 patients during a 14-month period. The current study aimed to analyze the accuracy, potential risk factors, and learning curve of RAPSF. @*Methods@#: This retrospective study evaluated the position of RAPSF using the Gertzbein and Robbins scale (GRS). The accuracy was analyzed using the ratio of the clinically acceptable group (GRS grades A and B), the dissatisfying group (GRS grades C, D, and E), and the Surgical Evaluation Assistant program. The RAPSF was divided into the no-breached group (GRS grade A) and breached group (GRS grades B, C, D, and E), and the potential risk factors of RAPSF were evaluated. The learning curve was analyzed by changes in robot-used time per screw and the occurrence tendency of breached and failed screws according to case accumulation. @*Results@#: The clinically acceptable group in RAPSF was 98.12%. In the analysis using the Surgical Evaluation Assistant program, the tip offset was 2.37±1.89 mm, the tail offset was 3.09±1.90 mm, and the angular offset was 3.72°±2.72°. In the analysis of potential risk factors, the difference in screw fixation level (p=0.009) and segmental distance between the tracker and the instrumented level (p=0.001) between the no-breached and breached group were statistically significant, but not for the other factors. The mean difference between the no-breach and breach groups was statistically significant in terms of pedicle width (p<0.001) and tail offset (p=0.042). In the learning curve analysis, the occurrence of breached and failed screws and the robot-used time per screw screws showed a significant decreasing trend. @*Conclusion@#: In the current study, RAPSF was highly accurate and the specific potential risk factors were not identified. However, pedicle width was presumed to be related to breached screw. Meanwhile, the robot-used time per screw and the incidence of breached and failed screws decreased with the learning curve.
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Objective@#: This study aims to determine the optimal dose of recombinant-human bone morphogenic protein-2 (rhBMP-2) for successful bone fusion in minimally invasive lateral lumbar interbody fusion (MIS LLIF). Previous studies show that rhBMP is an effective alternative to autologous iliac crest bone graft, but the optimal dose remains uncertain. The study analyzes the fusion rates associated with different rhBMP doses to provide a recommendation for the optimal dose in MIS LLIF. @*Methods@#: Ninety-three patients underwent MIS LLIF using demineralized bone matrix (DBM) or a mixture of rhBMP-2 and DBM as fusion material. The group was divided into the following three groups according to the rhBMP-2 usage : group A, only DBM was used (n=27); group B, 1 mg of rhBMP-2 per 5 mL of DBM paste (n=41); and group C, 2 mg of rhBMP-2 per 5 mL of DBM paste (n=25). Demographic data, clinical outcomes, postoperative complication and fusion were assessed. @*Results@#: At 12 months post-surgery, the overall fusion rate was 92.3% according to Bridwell fusion grading system. Groups B and C, who received rhBMP-2, had significantly higher fusion rates than group A, who received only DBM. However, there was no significant increase in fusion rate when the rhBMP-2 dosage was increased from group B to group C. The groups B and C showed significant improvement in back pain and Oswestry disability index compared to the group A. The incidence of screw loosening was decreased in groups B and C, but there was no significant difference in the occurrence of other complications. @*Conclusion@#: Usage of rhBMP-2 in LLIF surgery leads to early and increased final fusion rates, which can result in faster pain relief and return to daily activities for patients. The benefits of using rhBMP-2 were not significantly different between the groups that received 1 mg/5 mL and 2 mg/5 mL of rhBMP-2. Therefore, it is recommended to use 1 mg of rhBMP-2 with 5 mL of DBM, taking both economic and clinical aspects into consideration.
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Objective@#Recently, evidence has suggested that the pathophysiology and risk factors of intracranial atherosclerosis (ICAS) differs from those of extracranial atherosclerosis (ECAS). In addition, novel parameters reflecting metabolic conditions, such as insulin resistance or atherogenic dyslipidemia, based on triglycerides (TG) and other biomarkers, have emerged. In this study, we evaluated the association between TG-related parameters and symptomatic cerebral atherosclerosis in patients with acute ischemic stroke resulting from large artery atherosclerosis (LAA). @*Methods@#We assessed consecutive acute LAA-stroke patients between January 2010 and December 2020. Based on the radiological findings, we classified the relevant symptomatic arteries that caused the index stroke into LAA-ICAS and LAA-ECAS. As TGrelated parameters, the atherogenic index of plasma (AIP) and TG-glucose (TyG) index were calculated according to the following formulas: AIP = log10 (TG Level/High-density Lipoprotein Cholesterol Level), TyG Index = Ln (TG Level × Glucose Level/2). @*Results@#A total of 519 patients with LAA-stroke were evaluated. In multivariable logistic regression analysis to identify predictors of LAA-ICAS, AIP was significantly associated with LAA-ICAS (adjusted odds ratio [aOR], 3.60; 95% confidence interval [CI], 1.60–8.06). TyG index also showed a statistically significant relationship with LAA-ICAS (aOR, 1.60; 95% CI, 1.11–2.32). However, TG per se did not show a statistical association with LAA-ECAS. @*Conclusion@#TG-related parameters were more closely associated with stroke by ICAS than by ECAS. The metabolic conditions reflected by the AIP or TyG index, rather than hypertriglyceridemia itself, may play a greater role in determining the relevant vessel causally involved in a stroke.
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Objective@#Exercise can improve both motor and nonmotor symptoms in people with Parkinson’s disease (PwP), but there is an unmet need for accessible and sustainable exercise options. This study aimed to evaluate the effect, feasibility, and safety of a regularly performed live-streaming tele-exercise intervention for PwP. @*Methods@#A live-streaming exercise intervention for PwP was implemented twice a week for 12 weeks. We measured the motor and nonmotor symptom scores of the included patients before and after the intervention. Changes in clinical scores from baseline to postintervention were analyzed using paired t-tests. Factors associated with improvements in clinical scores and compliance were analyzed using Pearson’s correlation analysis. @*Results@#Fifty-six participants were enrolled in the study. There were significant improvements in Hospital Anxiety and Depression Scale (HADS)-anxiety (p = 0.007), HADS-depression (p < 0.001), Unified Parkinson’s Disease Rating Scale (UPDRS) part III (p < 0.001), UPDRS total (p = 0.015), Hoehn and Yahr stage (p = 0.027), and Parkinson’s Disease Fatigue Scale-16 (p = 0.026) scores after the intervention. Improvements in motor symptoms were associated with improvements in mood symptoms and fatigue. Higher motor impairment at baseline was associated with a greater compliance rate and better postintervention composite motor and nonmotor outcomes (ΔUPDRS total score). Overall, the 12-week tele-exercise program was feasible and safe for PwP. No adverse events were reported. The overall adherence rate was 60.0% in our cohort, and 83.4% of the participants were able to participate in more than half of the exercise routines. @*Conclusion@#The live-streaming tele-exercise intervention is a safe, feasible, and effective nonpharmacological treatment option that can alleviate fatigue and improve mood and motor symptoms in PwP.
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Chronic subdural hematoma (SDH) is a common condition encountered in neurosurgical practice; however, its pathogenesis remains controversial.Current Concepts: SDH refers to blood accumulation inside the dura and is classified into acute, subacute, and chronic types. Histopathologically, acute SDH shows no neomembrane formation and the hematoma is a clot, in contrast to chronic SDH characterized by a neomembrane surrounding the liquefied hematoma. SDH is usually categorized into acute and chronic types, with subacute SDH being more similar to chronic SDH. Posttraumatic subdural lesions include acute and chronic SDH, subdural hygroma (SDG), or effusion. SDG is a blood-tinged fluid accompanied by neomembrane formation in some cases. These lesions are pathologically different from each other but may change depending on the situation.Discussion and Conclusion: Chronic SDH mainly originates from an SDG and acute SDH. SDG is usually triggered by trauma but only occurs in patients in whom sufficient potential space is available and may occur spontaneously in such cases. Therefore, SDG frequently occurs in children and in elderly patients, in men with a larger skull size, and on the left side of the body, which usually shows a wider hemisphere. Separation of the dural border cell layer causes inflammation, indicated by fibroblast proliferation and neovascularization. Conversion of an SDG into a chronic SDH or enlargement of a chronic SDH is attributable to formation of neomembranes, neovascularization, and repeated microhemorrhages from fragile capillaries. Chronic SDH is treated with removal of the hematoma to relieve the mass effect and embolization of the feeding artery for the bleeder. Outcomes of chronic SDH depend on the absorptive-expansion capacity dynamics.
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Maternally inherited diabetes and deafness (MIDD) is a disorder characterized by the occurrence of diabetes mellitus and hearing impairment at a young age, caused by point mutations in mitochondrial DNA. MIDD can be accompanied by various neurological symptoms. In this patient, memory impairment and ataxia were the predominant neurological symptoms. Herein, we report MIDD patients with the m.3243A>G mutation who present with cognitive decline and gait disturbance at the age of 59.
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Paroxysmal kinesigenic dyskinesia (PKD) is a diagnostic term for transient, involuntary abnormal movements triggered by sudden motions. The treatment for PKD differs from other paroxysmal dyskinesias, as it notably responds well to sodium channel blockers. We report a case of atypical PKD, coupled with paroxysmal exercise-induced dyskinesia (PED). Both PKD and PED in this patient showed a good response to oxcarbazepine. This case could be clinical evidence that paroxysmal dyskinesias could potentially be regarded as a spectrum disorder with overlapping features.
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Health Insurance Review and Assessment Service’s (HIRA) claims data have been used in studies of hemodialysis patients even though information about mortality is not provided in this database. Mortality analysis using HIRA data has been conducted using various operational definitions that have not been validated. This study aimed to validate operational definitions of mortality for maintenance hemodialysis patients that have been used when analyzing the Korean HIRA database. Methods: This study utilized claims data of the Korean National Health Insurance Service (NHIS) between January 2008 and December 2019. We estimated mortality based on operational definitions applied in previous studies using the HIRA database and compared it with NHIS mortality information to validate accuracy. Results: A total of 128,876 patients who started maintenance hemodialysis between January 2009 and December 2019 were analyzed. The accuracy of estimated mortality was the highest at 96% in the group where mortality was defined as an absence of claims data for 150 days. If the period of no claims data was set to 90 days or less, there was a risk of overestimating the mortality for the entire study period. When it was set to 180 days or more, there was a risk of underestimating the mortality, as the follow-up time was close to the end of the study period. Conclusion: When mortality analysis of maintenance hemodialysis patients is performed using HIRA data, it is most accurate to set the operational definition period as the absence of claims data for 150 days.
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Chronic kidney disease is a significant health burden worldwide, with increasing incidence. Although several genome- wide association studies (GWAS) have investigated single nucleotide polymorphisms (SNP) associated with kidney trait, most studies were focused on European ancestry. Methods: We utilized clinical and genetic information collected from the Korean Genome and Epidemiology Study (KoGES). Results: More than five million SNPs from 58,406 participants were analyzed. After meta-GWAS, 1,360 loci associated with estimated glomerular filtration rate (eGFR) at a genome-wide significant level (p = 5 × 10–8) were identified. Among them, 399 loci were validated with at least one other biomarker (blood urea nitrogen [BUN] or eGFRcysC) and 149 loci were validated using both markers. Among them, 18 SNPs (nine known ones and nine novel ones) with 20 putative genes were found. The aggregated effect of genes estimated by MAGMA gene analysis showed that these significant genes were enriched in kidney-associated pathways, with the kidney and liver being the most enriched tissues. Conclusion: In this study, we conducted GWAS for more than 50,000 Korean individuals and identified several variants associated with kidney traits, including eGFR, BUN, and eGFRcysC. We also investigated functions of relevant genes using computational methods to define putative causal variants.