Purpose: We share and analyze the clinical presentations and genotypes of Korean male patients and female carriers who visited our clinic. Methods: Six male patients and three female carriers with comprehensive ophthalmic examinations and next-generation sequencing were included. Detailed clinical features were identified using visual field (VF) test and multimodal imaging including color fundus photography, fundus autofluorescence (FAF), and optical coherence tomography (OCT). Results: Six male patients were diagnosed with choroideremia at the median age of 25 years. Before genetic testing, three patients (50.0%) were clinically diagnosed with choroideremia, while the other three patients (50.0%) with retinitis pigmentosa. Patients showed different types of hemizygous CHM variants, including two nonsense variants, c.715C>T:p.(Arg239*) and c.799C>T:p.(Arg267*); two frameshift variants, c.1584_1587del:p.(Val529Hisfs*7) and c.403_404del:p.(Asp135Phefs*9); one splicing variant c.1511-28_1511-2del; and one exon 2-8 duplication. The latter three variants were novel. Two female carriers had heterozygous exon 2-8 duplication and the other one female carrier had heterozygous nonsense variant c.715C>T:p. (Arg239*). Fundus showed diffuse yellow-whitish scleral reflex and granular pigmented lesions. FAF showed multiple patchy hypofluorescence lesions, sparing macula. OCT showed thinning of outer nuclear layer, ellipsoid zone, retinal pigment epithelium layer, choroid thickness, interlaminar bridges, outer retinal tubulations, and microcysts in the inner nuclear layer. VF showed ring scotoma pattern with small amount of remaining central field. Asymptomatic female carriers showed variable fundus findings and mild changes in OCT. Conclusions A detailed description of the genotypes with three novel mutations and phenotypes of six choroideremia patients and three CHM mutation female carriers are presented.

BACKGROUND/OBJECTIVES: This study was designed to investigate the improvement effect of white ginseng extract (GS-KG9) on D-galactosamine (Ga1N)-induced oxidative stress and liver injury. SUBJECTS/METHODS: Sixty Sprague-Dawley rats were divided into 6 groups. Rats were orally administrated with GS-KG9 (300, 500, or 700 mg/kg) or silymarin (25 mg/kg) for 2 weeks. The rats of the GS-KG9- and silymarin-treated groups and a control group were then intraperitoneally injected Ga1N at a concentration of 650 mg/kg for 4 days. To investigate the protective effect of GS-KG9 against GalN-induced liver injury, blood liver function indicators, anti-oxidative stress indicators, and histopathological features were analyzed. RESULTS: Serum biochemical analysis indicated that GS-KG9 ameliorated the elevation of aspartate aminotransferase (AST), alanine aminotransferase (ALT), alkaline phosphatase (ALP), and lactate dehydrogenase (LDH) in GalN-treated rats. The hepatoprotective effects of GS-KG9 involved enhancing components of the hepatic antioxidant defense system, including glutathione, glutathione peroxidase (GPx), superoxide dismutase (SOD), and catalase (CAT). In addition, GS-KG9 treatment inhibited reactive oxygen species (ROS) production induced by GalN treatment in hepatocytes and significantly increased the expression levels of nuclear factor erythroid-2-related factor 2 (Nrf2) and heme oxygenase-1 (HO-1) proteins, which are antioxidant proteins. In particular, by histological analyses bases on hematoxylin and eosin, Masson's trichrome, α-smooth muscle actin, and transforming growth factor-β1 staining, we determined that the administration of 500 mg/kg GS-KG9 inhibited hepatic inflammation and fibrosis due to the excessive accumulation of collagen. CONCLUSIONS These findings demonstrate that GS-KG9 improves GalN-induced liver inflammation, necrosis, and fibrosis by attenuating oxidative stress. Therefore, GS-KG9 may be considered a useful candidate in the development of a natural preventive agent against liver injury.

Remifentanil is commonly used in operating rooms and intensive care units for the purpose of anesthesia and sedation or analgesia. Although remifentanil may significantly affect the bone regeneration process in patients, there have been few studies to date on the effects of remifentanil on bone physiology. The purpose of this study was to investigate the effects of remifentanil on osteoclast differentiation and bone resorption. Bone marrow-derived macrophages (BMMs) were cultured for 4 days in remifentanil concentrations ranging from 0 to 100 ng/ml, macrophage colony-stimulating factor (M-CSF) alone, or in osteoclastogenic medium to induce the production of mature osteoclasts. To determine the degree of osteoclast maturity, tartrate-resistant acid phosphatase (TRAP) staining was performed. RT-PCR and western blotting analyses were used to determine the effect of remifentanil on the signaling pathways involved in osteoclast differentiation and maturation. Bone resorption and migration of BMMs were analyzed to determine the osteoclastic activity. Remifentanil reduced the number and size of osteoclasts and the formation of TRAP-positive multinuclear osteoclasts in a dose-dependent manner. Expression of c-Fos and NFATC1 was most strongly decreased in the presence of RANKL and remifentanil, and the activity of ERK was also inhibited by remifentanil. In the bone resorption assay, remifentanil reduced bone resorption and did not significantly affect cell migration. This study shows that remifentanil inhibits the differentiation and maturation of osteoclasts and reduces bone resorption.
Acid Phosphatase ; Analgesia ; Anesthesia ; Blotting, Western ; Bone Regeneration ; Bone Resorption* ; Cell Movement ; Humans ; Intensive Care Units ; Macrophage Colony-Stimulating Factor ; Macrophages ; Operating Rooms ; Osteoclasts* ; Physiology

OBJECTIVE: We analyzed the association between regional weather and temporal changes on the daily occurrence of trauma emergencies and their severity. METHODS: In this cross-sectional prospective study, we investigated daily atmospheric patterns in trauma episodes in 1,344 patients in Cheongju city, South Korea, from January 2016 to December 2016 and analyzed the association of trauma occurrence and Injury Severity Scores (ISS) with weather conditions on a daily scale. RESULTS: The mean age of trauma patients was 53.0±23.8 years and average ISS was 9.0±2.0. Incidence of trauma was positively correlated with average temperature (r=0.512, P < 0.001) and atmospheric pressure (r=0.332, P=0.010) and negatively correlated with air pollutants (particulate matter less than 2.5 µm³ [PM2.5], r=−0.629, P < 0.001; particulate matter less than 10 µm³ [PM10], r=−0.679, P < 0.001). ISS was not significantly correlated with climate parameters and air pollutants, and variability was observed in the frequency and severity of trauma by time of day (highest occurrence, 16–20 pm; highest ISS, 4–8 am), day of the week (highest occurrence and highest ISS, Saturday), month of the year (highest occurrence, July; highest ISS, November), and season (highest incidence, summer; highest ISS, autumn). CONCLUSION: The study shows a positive relationship between trauma occurrence and specific weather conditions, such as atmospheric temperature and pressure. There was a negative relationship between concentrations of PM2.5 or PM10, and trauma occurrence. However, no correlation was observed between weather conditions or the concentrations of air pollutants and ISS. In addition, seasonal, circaseptan, and circadian variations exist in trauma occurrence and severity. Thus, we suggest that evaluation of a larger, population-based data set is needed to further investigate and confirm these relationships.
Air Pollutants* ; Atmospheric Pressure ; Chungcheongbuk-do ; Climate ; Dataset ; Emergencies ; Humans ; Incidence ; Injury Severity Score ; Korea ; Particulate Matter ; Prospective Studies ; Seasons* ; Weather

Anti-tuberculosis drugs can produce levels of hepatotoxicity ranging from mild elevation of aminotransferase to severe acute hepatitis. A few cases of drug-induced autoimmune hepatitis or the drug reaction with eosinophilia and systemic symptom (DRESS) syndrome by anti-tuberculosis medications have been reported. However, concomitant occurrence of these two disorders has not been reported. Here, we present a case of severe acute hepatitis with DRESS syndrome and autoimmune hepatitis resulting from primary standard anti-tuberculosis drugs. Both conditions were successfully treated with a systemic steroid regimen.
Antitubercular Agents ; Drug Hypersensitivity Syndrome ; Eosinophilia* ; Ethambutol* ; Hepatitis ; Hepatitis, Autoimmune* ; Isoniazid*

Vascular injury caused by a central venous catheter (CVC) has been reported to be a rare complication, especially delayed vascular injury due to CVC has a few cases and it can be fatal because of delayed recognition and more serious complications. A 59-year-old woman with no available medical history was admitted for treatment of ovarian cancer. For the surgery, a triple-lumen CVC was placed through the left subclavian vein. Parenteral nutrition through the CVC was used for postoperative nutritional management in the first postoperative day. On the sixth postoperative day (POD), the patient suddenly complained of dyspnea. The CT revealed bilateral pleural effusion and irregular soft tissue density and air bubble in anterior mediastinum suggesting migration of the distal portion of the CVC into the anterior mediastium. In the intensive care unit (ICU) bilateral thoracentesis and percutaneous drainage were performed. She was discharged from the ICU in 3 days later and transferred to the general ward. This case emphasizes the possibility of the delayed vascular injury related to CVC and some strategies for prevention of vascular injury.
Central Venous Catheters* ; Drainage ; Dyspnea ; Female ; Humans ; Intensive Care Units ; Mediastinitis* ; Mediastinum ; Middle Aged ; Ovarian Neoplasms ; Parenteral Nutrition ; Parenteral Nutrition, Total* ; Patients' Rooms ; Pleural Effusion ; Subclavian Vein ; Thoracentesis ; Vascular System Injuries*

PURPOSE: There are large differences between medical school curricula and those of other disciplines and graduate schools. Counseling program is designed to help participants understand their innate tendencies and have indirect experiences with the 16 Myers-Briggs Type Indicator (MBTI) types, which can lead to better interpersonal relationships. METHODS: The experimental and control groups, which were sampled randomly, comprised 34 students each. Each group was consisted of 17 females and 17 males. We implemented a counseling program (understanding oneself, understanding others) only to the experimental group, not the control group. The effects of the program were analyzed by t-test and analysis of covariance (ANCOVA). The data were analyzed using SPSS 17.0 Window. RESULTS: For the Human relationship scale as a whole, the experimental group showed an increase from 3.641 to 3.846 (p=0.001). With regard to the subcategories, satisfaction increased from 3.705 to 4.022 (p=0.000), trust increased from 3.480 to 3.715 (p=0.015), intimacy increased from 3.833 to 4.019 (p=0.007), and openness increased from 3.435 to 3.700 (p=0.006). CONCLUSION: This program improved interpersonal relationships by helping new students understand each other, build a rapport, and understand their personalities well with open minded attitudes. Their relationships gradually became more intimate than awkward through this program.
Counseling ; Curriculum ; Female ; Humans ; Interpersonal Relations ; Male ; Personality Inventory ; Schools, Medical

PURPOSE: The purpose of this study was to histomorphometrically evaluate the osteoconductivity of a new biphasic calcium phosphate ceramics with fully interconnected microporous structure. MATERIAL AND METHODS: Osseous defects created in the rabbit calvaria were filled with four different bone graft substitutes. Experimental sites were filled with a new fully interconnected microporous biphasic calcium phosphate with(BCP-2) or without(BCP-1) internal macropore of 400micrometer in diameter. MBCP(Biomatlante, France) and Bio-Oss(Geistlich Pharma, Switzerland) were used as controls in this study. Histomorphometric evaluation was performed at 4 and 8 weeks after surgery. RESULT: In histologic evaluation, new bone formation and direct bony contact with the graft particles were observed in all four groups. At 4 weeks, BCP-1(15.5%) and BCP-2(15.5%) groups showed greater amount of newly formed mineralized bone area(NB%) compared to BO(11.4%) and MBCP(10.3%) groups. The amounts of NB% at 8 weeks were greater than those of 4 weeks in all four groups, but there was no statistically significant differences in NB% between the groups. CONCLUSION: These results indicate that new bone substitutes, BCP with interconnected microporous structure and with or without internal macroporous structures, have the osteoconductivity comparable to those of commercially available bone substitutes, MBCP and Bio-Oss.
Bone Substitutes ; Calcium ; Ceramics ; Hydroxyapatites ; Minerals ; Osteogenesis ; Skull ; Transplants

Sphingosine 1-phosphate (S1P) is a bioactive lipid molecule that mediates cell proliferation, differentiation, migration, and angiogenesis in vivo. However, the roles of S1P on pathogenesis of arthritis have been not completely understood. This study was designed to determine the effects of S1P modulation on collageninduced arthritis (CIA) model. DBA/1J mice were injected with collagen into the tail for induction of CIA model. S1P was administered into the peritoneal cavity every other days from day 1 to day 42 after collagen injection. To determine the degree of damage in CIA, we examined macroscopic findings of CIA. The inflammation and bone destruction of CIA mice were evaluated by histo-patholigy and radiography (CT and microradiography). The expressions of TNF-alpha, IL-6, and RANKL which have important roles in pathogenesis of rheumatoid arthritis and bone destruction were observed by immuno-histochemical staining. After injection with collagen in the DBA/1J mice, CIA was induced by swelling in the knee and ankle joint. Administration of S1P suppressed damages and incidence of arthritis elicited by collagen. In histologic and radiographic studies, S1P strongly suppressed the infiltration of inflammatory cells, the swelling of synovial membrane, erosion, and the destruction of bone on CIA mice. Injection of S1P resulted in down-regulation of the expression of the pro-inflammatory and bone destruction mediators such as TNF-alpha, IL-6, and RANKL on CIA mice. Furthermore, S1P suppressed the differentiation of bone marrow cells into osteoclasts by RANKL. In conclusion, this study suggest that S1P has protective effects on inflammation and bone destruction during pathogenesis of CIA, which indicates S1P can be a new possible therapeutic strategy for rheumatoid arthritis
Animals ; Ankle Joint ; Arthritis ; Arthritis, Rheumatoid* ; Bone Marrow Cells ; Cell Proliferation ; Collagen ; Down-Regulation ; Incidence ; Inflammation* ; Interleukin-6 ; Knee ; Mice* ; Osteoclasts ; Peritoneal Cavity ; Radiography ; Sphingosine ; Synovial Membrane ; Tail ; Tumor Necrosis Factor-alpha