• Journal of The Korean Society of Inherited Metabolic disease
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• v.24 no.1
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• pp.1-9
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• 2024

Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-like episode (MELAS) is a rare maternally inherited disorder primarily caused by mutations in mitochondrial DNA, notably the m.3243A>G mutation in the MT-TL1 gene. This mutation impairs mitochondrial function crucial for cellular energy production, particularly in high-energy-demanding organs such as the brain and muscles. MELAS manifests as recurrent stroke-like episodes, seizures, diabetes mellitus, cardiomyopathy, and other multisystemic symptoms that are often present in childhood. The diagnosis combines genetic testing, clinical evaluation, and neuroimaging, with elevated lactate levels and characteristic magnetic resonance imaging (MRI) findings as key indicators. Treatment focuses on symptomatic management and enhancement of mitochondrial function through L-arginine, coenzyme Q10, high-dose vitamins, and taurine supplementation. Studies have identified additional genetic variants linked to MELAS, including mutations in POLG and other mitochondrial genes, further complicating the genetic landscape. Emerging therapies, particularly gene therapy and mitochondria-targeting drugs, offer promising avenues for addressing the underlying genetic defects and improving mitochondrial functioning. Furthermore, ongoing studies continue to enhance our understanding and management of MELAS, with the aim of reducing its burden and improving patient outcomes and quality of life. This review summarizes the current knowledge on the genetics, clinical features, diagnosis, and treatment of MELAS, highlighting the latest advancements and future directions for therapeutic interventions.

• Korean Journal of Radiology
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• v.23 no.7
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• pp.732-741
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• 2022

Objective: To determine the impact of dedicated subspecialized radiologists in multidisciplinary team (MDT) discussions on the management of lower gastrointestinal (GI) tract malignancies. Materials and Methods: We retrospectively analyzed the data of 244 patients (mean age ± standard deviation, 61.7 ± 11.9 years) referred to MDT discussions 249 times (i.e., 249 cases, as five patients were discussed twice for different issues) for lower GI tract malignancy including colorectal cancer, small bowel cancer, GI stromal tumor, and GI neuroendocrine tumor between April 2018 and June 2021 in a prospective database. Before the MDT discussions, dedicated GI radiologists reviewed all imaging studies again besides routine clinical reading. The referring clinician's initial diagnosis, initial treatment plan, change in radiologic interpretation compared with the initial radiology report, and the MDT's consensus recommendations for treatment were collected and compared. Factors associated with changes in treatment plans and the implementation of MDT decisions were analyzed. Results: Of the 249 cases, radiologic interpretation was changed in 73 cases (29.3%) after a review by dedicated GI radiologists, with 78.1% (57/73) resulting in changes in the treatment plan. The treatment plan was changed in 92 cases (36.9%), and the rate of change in the treatment plan was significantly higher in cases with changes in radiologic interpretation than in those without (78.1% [57/73] vs. 19.9% [35/176], p < 0.001). Follow-up records of patients showed that 91.2% (227/249) of MDT recommendations for treatment were implemented. Multiple logistic regression analysis revealed that the nonsurgical approach (vs. surgical approach) decided through MDT discussion was a significant factor for patients being managed differently than the MDT recommendations (odds ratio, 4.48; p = 0.017). Conclusion: MDT discussion involving additional review of radiology examinations by dedicated GI radiologists resulted in a change in the treatment plan in 36.9% of cases. Changes in treatment plans were significantly associated with changes in radiologic interpretation.

• Archives of Craniofacial Surgery
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• v.17 no.3
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• pp.128-134
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• 2016

Background: Blowout fracture is one of the most common facial fractures, and patients usually present with accompanying ocular complications. Many studies have looked into the frequency of persistent ocular symptoms, but there is no study on assault patients and related ocular symptoms. We evaluated the incidence of residual ocular symptoms in blowout fractures between assaulted and non-assaulted patients, and sought to identify any connection among the degree of enophthalmos, defect size, and assault-related injury. Methods: A retrospective review was performed for any patient who sustained a unilateral blowout fracture between January 2010 to December 2014. The collected data included information such as age, gender, etiology, and clinical ocular symptoms as examined by an ophthalmologist. This data was analyzed between patients who were injured through physical altercation and patients who were injured through other means. Results: The review identified a total of 182 patients. Out of these, 74 patients (40.7%) have been struck by a fist, whereas 108 patients (59.3%) have sustained non-assault related injuries. The average age was 36.1 years, and there was a male predominance in both groups (70 patients [94.6%] in the assaulted group and 87 patients [80.6%] in the non-assault group). Diplopia and enophthalmos were more frequent in patients with assault history than in non-assaulted patients (p<0.05). Preoperatively, 25 patients (33.8%) with assault history showed diplopia, whereas 20 patients (18.5%) showed diplopia in the non-assaulted group (p<0.05). Preoperative enophthalmos was present in 34 patients (45.9%) with assault history, whereas 31 patients (28.7%) showed enophthalmos in the non-assaulted group (p<0.05). Conclusion: Patients with an assault history due to a fist blow experienced preoperative symptoms more frequently than did patients with non-assault-related trauma history. Preoperative diplopia and enophthalmos occurred at a higher rate for patients who were assaulted. Surgeons should take into account such characteristics in the management of assaulted patients.

• Clinical Endoscopy
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• v.57 no.1
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• pp.36-47
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• 2024

Background/Aims: Scissor-type endoscopic submucosal dissection (ST-ESD) knives can reduce the adverse events associated with ESDs. This study aimed to compare ST-ESD and non-scissor-type (NST)-ESD knives. Methods: We identified ten studies that compared the performance characteristics and safety profiles of ST-ESD and NST-ESD knives. Fixed- and random-effects models were used to calculate the pooled proportions. Heterogeneity was assessed using the I² test. Results: On comparing ST-ESD knives to NST-ESD knives, the weighted odds of en bloc resection was 1.61 (95% confidence interval [CI], 0.90-2.90; p=0.14), R0 resection was 1.10 (95% CI, 0.71-1.71; p=0.73), delayed bleeding was 0.40 (95% CI, 0.17-0.90; p=0.03), perforation was 0.35 (95% CI, 0.18-0.70; p<0.01) and ESD self-completion by non-experts was 1.89 (95% CI, 1.20-2.95; p<0.01). There was no heterogeneity, with an I² score of 0% (95% CI, 0%-54.40%). Conclusions: The findings of reduced odds of perforation, a trend toward reduced delayed bleeding, and an improvement in the rates of en bloc and R0 resection with ST-ESD knives compared to NST-ESD knives support the use of ST-ESD knives when non-experts perform ESDs or as an adjunct tool for challenging ESD procedures.

• The Journal of Internal Korean Medicine
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• v.44 no.4
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• pp.726-740
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• 2023

Objectives: This review investigated the research on warm herbal foot bath therapy (WHFT) for insomnia. Methods: A search was conducted on the China National Knowledge Infrastructure (CNKI) database to collect relevant studies published up to August 29, 2023. Randomized controlled trials (RCTs) comparing WHFT and sleeping pills in patients with insomnia were included. The methodological quality of the included studies was assessed using the Cochrane risk-of-bias assessment tool. The results of the meta-analysis were presented as risk ratios (RRs) or mean differences (MDs) and their 95% confidence intervals (CIs). Results: A total of 11 RCTs were included. WHFT as monotherapy resulted in a significantly higher total effective rate (TER) (RR, 1.25; 95% CI, 1.15 to 1.36; I²=25%) and an improved Pittsburgh Sleep Quality Index (PSQI) global sore (MD, -3.10; 95% CI, -4.24 to -1.95; I²=73%) compared to benzodiazepines. Additionally, WHFT as a combined therapy with benzodiazepines resulted in a significantly higher TER (RR, 1.15; 95% CI, 1.04 to 1.27; I²=0%) and an improved PSQI global score (MD, -2.23; 95% CI, -4.09 to -0.38; I²=80%) compared to benzodiazepines alone. In network analysis visualizing the components of HWFT, four clusters were discovered, and Polygoni Multiflori Ramuls and Ziziphi Spinosae Semen were the key herbs used in WHFT. Overall, the methodological quality of the included studies was poor. Conclusions: There was limited evidence that WHFT as a monotherapy or combined therapy was effective in improving insomnia. The findings can be used as basic data for future WHFT research in South Korea.

• IMMUNE NETWORK
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• v.1 no.3
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• pp.236-243
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• 2001

Background: An immunological approach for aging mechanism appears to be important. Lymphocyte subsets analysis in peripheral blood is widely performed to assess the immune status and to diagnose and monitor various diseases. Some lymphocyte subsets are known to change with age, but only few data about age-related reference ragnes for these subsets in healthy individuals have been reported. So we attempted to report reference ranges for these subsets in each age group and review changes of the results with age for the secondary studies about immune cell function as lymphocyte blast transformation and immunoglobulin gene rearrangement (VDJ) including recombination activating genes (RAG-1 and RAG-2). Methods: Lymphocyte subset analysis was performed on 302 subjects, 189 males and 113 females with age group of all decades of life. Two color direct immunofluorescene flow cytometry (FCM) was done using $Simultest^{TM}$ IMK-Lymphocyte kit (Becton Dickinson, USA), $FACScan^{TM}$ (Becton Dickinson, USA) and $FACSCalibur^{TM}$ (Becton Dickinson, USA). Lymphocyte subsets analysed were T ($CD3^+$) and B cells ($CD19^+$), helper/inducer T ($CD4^+$) and suppressor/cytotoxic T cells ($CD8^+$), helper/suppressor ($CD4^+/CD8^+$) ratio and natural killer (NK) cells ($CD3^-CD16^+/CD56^+$). The absolute numbers of each subset were calculated from total lymphocyte counts. Data collected was analysed using SAS 6.12. A P-value of < 0.05 was considered significant. Results: We reported the counts and percentages of lymphocyte and these subsets in each age group. There were no statistically significant differences between male and female subjects. The percentage of $CD4^+$ T cells, and the count of NK cells did not show the significant difference among the various age groups. The age-related changes observed in our study were as following: 1) a decrease in the percentages of T cells, B cells and $CD8^+$ T cells ; 2) a decrease in the counts of B cells and $CD8^+$ T cells ; 3) an increase in the percentage and count of NK cells ; and 4) an increase in the $CD4^+/CD8^+$ ratio. Conclusion: The characteristics of aging process appeared to be showing a marked decrease of lympocyte subsets T and B cells as well as T8 ($CD8^+$). The age-related increase of the percentage of cells bearing NK marker can be interpreted as a compensatory consequence to cope with the decrease of T cells related to the thymic involution. These changes with age appeared to be for the secondary study about immune cell function as lymphocyte blast transformation and immunoglobulin gene rearrangement.

• Clinical and Experimental Reproductive Medicine
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• v.37 no.2
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• pp.173-179
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• 2010

The antiestrogen tamoxifen is currently the most commonly used adjuvant treatment of breast cancer with antiestrogenic effect on mammary tissue. However, it is also associated with endometrial abnormalities, including hyperplasia, polyps, carcinoma, mostly interpreted as evidence of estrogenic effect on the endometrium. Previously, tamoxifen-associated polyp in breast cancer has been reported in the literature. Most studies had a long follow-up period and tamoxifen-associated polyp developed more than 1 year after tamoxifen treatment. In this case, we report an unusual case of rapid growing and multiple endometrial polyps that were developed only after 3 months' tamoxifen treatment in a postmenopausal breast cancer patient who received quadrant mastectomy with a brief review of literature.

• Archives of Plastic Surgery
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• v.50 no.6
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• pp.557-562
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• 2023

Augmentation mammoplasty is one of the most popular cosmetic surgeries, but there is a high reoperation rate (29.7%) commonly due to capsular contracture, implant malpositioning, infection, and unsatisfactory size. Although infection only accounts for 2% of cases, its management is very challenging, especially with nontuberculous mycobacteria (NTM) infection. Breast prosthetic NTM infection is a rare but is a disastrous condition with an incidence of approximately 0.013%. Immediate salvage reimplantation is usually not suggested, and most studies recommend a gap of 3 to 6 months after combination antibiotics therapy before reimplantation. However, delayed reimplantation often leads to great psychological stress and struggle between the doctor and patient. We present the case report of successful reimplantation in treating prosthetic NTM infections in a 28-year-old female. We discuss a novel technique "transaxillary capsulorrhaphy" to correct the bottoming-out deformity. One year after the combination of antibiotics and surgery, the follow-up computed tomography scan showed complete remission of NTM without recurrence. We discuss the surgical technique in detail. The 1-year follow-up assessment (photos and dynamic video) revealed good cosmesis and reliable correction using the new technique. This report is the first formal description and discussion of one-stage reimplantation following NTM infections. Transaxillary capsulorrhaphy allows for a successful salvage operation when an implant is displaced. This approach provides highly favorable result in eastern women undergoing revision augmentation mammoplasty. This study reflects level of evidence V, considering opinions of respected authorities based on clinical experience, descriptive studies, or reports of expert committees.

• Journal of Life Science
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• v.31 no.12
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• pp.1120-1127
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• 2021

Depression has a negative impact on social functioning due to its high prevalence and increased suicide rate, and is a disease with a high economic burden. Depression is related to diverse brain-related phenomena, such as neuroinflammation, synaptic dysfunction, and cognitive deficit. As antidepressant drugs used in clinical trials have shown poor therapeutic effects, antidepressant drugs that show rapid efficacy urgently need to be developed. Although studies on various genes, proteins, and signaling pathways related to depression have been conducted, the pathogenesis of depression has not been clearly elucidated. Sirtuin 1 is a nicotinamide-adenine dinucleotide- (NAD+-) dependent histone deacetylase and is involved in cell differentiation, apoptosis, autophagy, and cancer metabolism. Recent genetic studies found that sirtuin 1 is a potential target gene for depression. In addition, preclinical studies reported that sirtuin 1 signaling affects depression-like behavior. In this review, we attempt to present up-to-date knowledge of depression and sirtuin 1. We describe the various roles of sirtuin 1 in the regulation of glial activation, circadian rhythm, neurogenesis, and cognitive function and the effects of its expression on depression. Further, we discuss the effect of sirtuin 1 on the impairment of neural plasticity, one of the key mechanisms of depression, and the associated mechanisms of sirtuin 1.

• Pediatric Infection and Vaccine
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• v.17 no.2
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• pp.83-90
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• 2010

Purpose : Although the incidence of polymicrobial bloodstream infection (PBSI) has increased, only a few studies have so far focused on children. Therefore, in an effort to prevent more serious situations in pediatric patients, we analyzed the clinical features, organisms, and laboratory results of PBSI. Methods : We performed a retrospective review of the case records of 97 patients with polymicrobial bloodstream infection in the Severance hospital, from 2001 to 2008. Using t-test and chi-square test, we analyzed the underlying medical conditions, clinical characteristics, organisms, and laboratory results of those patients. Results : Annual incidence of polymicrobial bloodstream infection increased from 1.4 % in 2001 to 10.9% in 2008 in pediatric patients. Immunocompromised hemato-oncological malignancy was found in 31 (31.9%) patients, and was the most common underlying medical condition; cardiovascular disease was found in 15 patients (15.4%), neurologic disease in 10 patients (10.3%), and so on. Gram positive organisms were recovered in 143 cases and gram negative organisms were recovered in 101 cases of PBSI. Staphylococcus epidermidis was the most common organism. Factors affecting mortality included underlying medical disease, immune status, nosocomial infection, and central catheter-related infection, for which the rate of mortality showed a greater increase (P<0.05). Conclusion : Due to the close connection between PBSI and fatal conditions or high mortality, it requires more aggressive management. Compared with previous studies, we discovered that immunocompromised hemato-oncological malignancy was the most common underlying medical condition and that frequency of gram-positive bacteria and fungus isolated has increased.