Purpose: We provide evidence for the reclassification of the BRCA1:c.5017_5019del variant by presenting the clinicopathological characteristics, clinical outcomes, and family history of breast or ovarian cancer in 17 patients with this variant. Methods: This study included breast or ovarian cancer patients tested for BRCA1/2 genes between January 2008 and June 2020 at 10 medical centers in Korea. We retrospectively reviewed 17 probands from 15 families who had the BRCA1:c.5017_5019del variant according to the electronic medical records. Results: We present 10 breast cancer patients and 7 ovarian cancer patients from 15 families identified as having BRCA1:c.5017_5019del and a total of 19 cases of breast cancer and 14 cases of ovarian cancer in these families. The ratio of breast-to-ovarian cancer was 1.3:1. Breast cancer patients with this variant showed a rich family history of breast or ovarian cancer, 8 patients (80.0%). The mean age at diagnosis was 45.4 years and 6 patients (60.0%) were categorized into hormone-receptor–negative breast cancer. Also, the ovarian cancer patients with this variant showed strong family histories of breast and/or ovarian cancer in 4 patients (57.1%). Conclusion We presented clinical evidence for the reclassification of BRCA1:c.5017_5019del as a likely pathogenic variant (LPV). Reclassification as LPV could result in the prophylactic treatment and medical surveillance of probands, family testing recommendations, and appropriate genetic counseling of their families.

Purpose: Zinc is known to be associated with osteoblast proliferation and differentiation.Osterix as zinc-finger transcription factor is also related to osteoblast differentiation and bone formation. In the present study, we aimed to investigate whether zinc modulates osterix gene and protein expression in osteoblastic MC3T3-E1 cells. Methods: MC3T3-E1 cells were cultured in zinc-dependent concentrations (0, 0.5, 1, 5, or 15 µM Zn), along with osteogenic control (normal osteogenic medium) for 1 and 3 days. The gene and protein expression levels of osterix were analyzed by real-time reverse transcription polymerase chain reaction and Western blotting, respectively. Results: Zinc increased osteoblast proliferation in a concentration-dependent manner at day 1 and 3. Similarly, zinc increased the activity of osteoblast marker enzyme alkaline phosphatase in cells and media in a zinc concentration-dependent manner. Moreover, our results showed that the pattern of osterix gene expression by zinc was down-regulated within the low levels of zinc treatments (0.5–1 µM) at day 1, but it was up-regulated after extended culture period at day 3. Osterix protein expression by zinc showed the similar pattern of gene expression, which down-regulated by low zinc levels at day 1 and up-regulated back at day 3 as the early stage of osteoblast differentiation. Conclusion Our results suggest that zinc modulates osterix gene and protein expression in osteoblasts, particularly in low level of zinc at early stage of osteoblast differentiation period.

OBJECTIVES: The purpose of this study was to examine the relationship of dental anxiety with oral health behavior and dental caries experience among adolescents. METHODS: The subjects were 469 teenagers (238 middle school students and 231 high school students) in 15 different schools located in 7 regions of Bucheon in Gyeonggi Province, Daejeon, and others. A survey and interviews were conducted to evaluate subjects' oral health behavior and dental anxiety. Dental anxiety was additionally assessed by Corah's Dental Anxiety Scale. The caries experience of subjects was examined. RESULTS: There were no regional differences in dental anxiety. Girls felt more dental anxiety than boys did. Adolescents who did not receive treatment even when they needed it felt more dental anxiety than those who did receive treatment. There were also statistically significant differences in dental anxiety according to the type of treatment received. Adolescents who received extraction treatment or underwent oral surgery experienced more dental anxiety than those who received orthodontic or aesthetic treatment. Those who had a toothache or who experienced gingival bleeding felt more dental anxiety than those who did not have those conditions. Subjects with poor perceived oral health also had more dental anxiety. The number of decayed teeth and filled teeth was significantly correlated with dental anxiety. CONCLUSIONS: In adolescents, dental anxiety is related to their oral health behavior, the type of conditions they present with, the treatment received, and dental caries experience. Therefore, the kind of systematic programs that could relieve adolescents of dental anxiety should be prepared.
Adolescent* ; Dental Anxiety* ; Dental Caries* ; DMF Index ; Female ; Gyeonggi-do ; Hemorrhage ; Humans ; Oral Health* ; Surgery, Oral ; Tooth ; Toothache

Hamamelis japonica (Hamamelidaceae), widely known as Japanese witch hazel, is a deciduous flowering shrub that produces compact clumps of yellow or orange-red flowers with long and thin petals. As a part of our ongoing search for phenolic constituents from this plant, eleven phenolic constituents including six flavonol glycosides, a chalcone glycoside, two coumaroyl flavonol glycosides and two galloylated compounds were isolated from the flowers. Their structures were elucidated as methyl gallate (1), myricitrin (2), hyperoside (3), isoquercitrin (4), quercitrin (5), spiraeoside (6), kaempferol 4'-O-beta-glucopyranoside (7), chalcononaringenin 2'-O-beta-glucopyranoside (8), trans-tiliroside (9), cis-tiliroside (10), and pentagalloyl-O-beta-D-glucose (11), respectively. These structures of the compounds were identified on the basis of spectroscopic studies including the on-line LCNMR- MS and conventional NMR techniques. Particularly, directly coupled LC-NMR-MS afforded sufficient structural information rapidly to identify three flavonol glycosides (2 - 4) with the same molecular weight in an extract of Hamamelis japonica flowers without laborious fractionation and purification step. Cytotoxic effects of all the isolated phenolic compounds were evaluated on HCT116 human colon cancer cells, and pentagalloyl-O-beta-D-glucose (11) was found to be significantly potent in inhibiting cancer cell growth.
Asian Continental Ancestry Group ; Chalcone ; Colonic Neoplasms ; Flowers* ; Glycosides ; Hamamelis* ; Humans ; Molecular Weight ; Phenol* ; Plants

BACKGROUND/AIMS: To evaluate the diagnostic value of contrast (SonoVue(R)) enhancement ultrasonography (CEUS) and to compare this method with computed tomography (CT) and magnetic resonance imaging (MRI) in evaluating liver masses. METHODS: CEUS (n=50), CT (n=47), and MRI (n=43) were performed on 50 liver masses in 48 patients for baseline mass characterization. The most likely impression for each modality and the final diagnosis, based on the combined biopsy results (n=14), angiography findings (n=36), and clinical course, were determined. The diagnostic value of CEUS was compared to those of CT and MRI. RESULTS: The final diagnosis of the masses was hepatocellular carcinoma (n=43), hemangioma (n=3), benign adenoma (n=2), eosinophilic abscess (n=1), and liver metastasis (n=1). The overall diagnostic agreement with the final diagnosis was substantial for CEUS, CT, and MRI, with kappa values of 0.621, 0.763, and 0.784, respectively. The sensitivity, specificity, and accuracy were 83.3%, 87.5%, and 84.0%, respectively, for CEUS; 95.0%, 87.5%, and 93.8%, respectively, for CT; and 94.6%, 83.3%, and 93.0%, respectively for MRI. After excluding the lesions with poor acoustic sonographic windows, the sensitivity, specificity, and accuracy for CEUS were 94.6%, 87.5%, and 93.3%, respectively, with a kappa value of 0.765. CONCLUSIONS: If an appropriate acoustic window is available, CEUS is comparable to CT and MRI for the diagnosis of liver masses.
Adult ; Aged ; Contrast Media/diagnostic use ; Female ; Humans ; Liver Diseases/pathology/radiography/*ultrasonography ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Sensitivity and Specificity ; Tomography, X-Ray Computed

BACKGROUND AND OBJECTIVES: It is necessary to establish the most efficient diagnostic and therapeutic method for benign paroxysmal positional vertigo (BPPV), which is appropriate for Korean healthcare system. We aimed to evaluate current state of Korean clinician's diagnostic and therapeutic approaches for BPPV. MATERIALS AND METHODS: A 16-item survey was emailed to the members of dizziness department of Otology Research Interest Group in the Korean Otologic Society (n=68). 43 were returned and analyzed. RESULTS: All respondents (100%) used Dix-Hallpike test as a diagnostic tool for vertical canal-BPPV. Supine roll test was used for diagnosing lateral canal BPPV in nearly all the respondents (97.7%). Epley maneuver was chosen as otolith repositioning maneuver (ORM) for posterior canal BPPV in all respondents and barbecue rotation (BBQ) was used for treating lateral canal BPPV with geotropic nystagmus in 95.3% of respondents. Extreme variation was noted for therapeutic approach of lateral canal BPPV with ageotropic nystagmus BBQ, with 4 kinds of ORM and adjunctive measures to liberate otolith from cupula, while BBQ was again the most commonly used ORM (76.7%). CONCLUSION: The development of practical and efficient ORM for lateral canal BPPV with ageotropic nystagmus is necessary.
Surveys and Questionnaires ; Delivery of Health Care ; Dizziness ; Electronic Mail ; Korea ; Otolaryngology ; Otolithic Membrane ; Public Opinion ; Vertigo

OBJECTIVES: To identify dentists' perceptions regarding the possible introduction of private health insurance plans, thereby providing basic data to improve the existing dental health insurance system. METHODS: A self-report survey was conducted with a total of 126 dentists in Jeollabuk-do Province. The survey was designed to gather information on the dentists' positions, perceptions and attitudes toward on a proposed introduction of privately run insurance schemes. RESULTS: A negative general consensus was found for the privately run scheme. Also it appeared that an overall review was required. CONCLUSIONS: Considering the high percentage of negative responses in the present study, it seems necessary to pro-actively reflect and complement potential issues in the current system before implementing privately run schemes in efforts to establish a solid foundation for operating dental insurance plans best suitable to the needs and characteristics of premium payers.
Complement System Proteins ; Consensus ; Dentists ; Humans ; Insurance ; Insurance, Dental ; Insurance, Health

PURPOSE: To evaluate the incidence and clinical features of age-related macular degeneration (AMD) in Korea. METHODS: Web-based (www.armd-nova.or.kr) registration was conducted for AMD patients aged 50 or more who were newly diagnosed by retinal specialists in Korea from August 20, 2005 to August 20, 2006. Patient data including ophthalmologic examination, fundus photography, fluorescein angiogram and/or indocyanin green angiogram (ICG), past medical history, behavioral habit, combined systemic diseases were up-loaded. RESULTS: Among finally enrolled 1,141 newly diagnosed AMD patients, 690 patients (60.5%) were male and 451 patients (39.5%) were female. The average age of AMD patients was 69.7+/-8.0. Early AMD was observed in 190 patients and 951 patients had late AMD. Classic choroidal neovascular membrane (CNVM) was observed in 18.6% of exudative AMD patients and 63.4 % had occult CNVM. Subfoveal CNVM was observed in 80.4% of the patients with CNVM. Among the 580 exudative AMD eyes that performed indocyanin green angiography (ICG), 184 eyes (31.7%) had polypoidal choroidal vasculopathy (PCV) and 36 eyes (6.2%) showed retinal angiomatous proliferation (RAP). Age, male gender, smoking, diabetes and hypertension significantly increased the risk of the AMD among Koreans. CONCLUSIONS: Because of the low rate of participation by retinal specialists, definite incidence of AMD was not obtainable. However, the estimated 1-year AMD incidence in the Pusan area of Korea is at least 0.4%. In contrast to Western people, 31.7% of exudative AMD cases were revealed to be PCV and 6.2% were revealed to be RAP. This discrepancy between ethnic groups should be considered in the diagnosis and treatment modality selection of Korean AMD patients.
Aged ; Angiography ; Choroid ; Ethnic Groups ; Eye ; Female ; Fluorescein ; Humans ; Hypertension ; Incidence ; Korea ; Macular Degeneration ; Male ; Membranes ; Photography ; Retinaldehyde ; Smoke ; Smoking ; Specialization

BACKGROUND/AIMS: Propofol is widely used for sedation during endoscopy. Because propofol may cause hepatic encephalopathy, hemodynamic compromise, and respiratory depression, cautious use is required in patients with liver cirrhosis. We evaluated the safety and efficacy of propofol in compensated cirrhosis during endoscopic examination. METHODS: Thirty-nine cirrhotic patients (19 and 20 cases of Child Pugh classes A and B, respectively) and 56 control subjects were included. The initial dose of propofol (40 mg) was increased by 20-mg increments until moderate sedation was achieved. The number connection test, flapping tremor test, blood pressure, heart rate, oxygen saturation, liver enzymes, and prothrombin time were evaluated before and after endoscopy. RESULTS: No significant change was observed in any parameter compared to baseline in either group. The mean dose of propofol was significantly lower in cirrhotic versus control subjects (49.7+/-15.8 versus 65.0+/-17.9 mg, respectively; p<0.001). Scores based on a visual analog scale evaluating patient satisfaction did not differ between groups (72+/-27 versus 64+/-26, respectively; p=0.196), nor did mean recovery time (16.4+/-9.8 versus 14.2+/-6.7 min, respectively; p=0.186). CONCLUSION: Propofol is safe and effective for moderate sedation in compensated liver cirrhosis.
Child ; Conscious Sedation ; Endoscopy ; Fibrosis ; Heart Rate ; Hematologic Tests ; Hemodynamics ; Hepatic Encephalopathy ; Humans ; Liver ; Liver Cirrhosis ; Oxygen ; Patient Satisfaction ; Propofol ; Prothrombin Time ; Respiratory Insufficiency ; Tremor

BACKGROUND/AIMS: The removal of esophageal and gastric submucosal tumors is difficult using conventional endoscopic mucosal resection methods. This study examined the usefulness of an endoscopic subtumoral dissection for an en-bloc resection of submucosal tumors. METHODS: An endoscopic subtumoral dissection was attempted for an en-bloc resection in 15 submucosal tumors (M: F=10 : 5, 13 stomach, 2 esophagus). Before the procedures, endoscopic ultrasonography was performed in all cases. The procedure was carried out using various electrosurgical knives, such as an endoscopic submucosal dissection. RESULTS: Pathological and immunohistochemical studies confirmed a gastrointestinal stromal tumor in 6 cases. Other pathological diagnoses were made in 9 patients with submucosal lesions: leiomyoma (4), ectopic pancreas (3), lipoma (1), and hemangioma (1). An en-bloc resection was performed in 13 of the 15 tumors (86.7%). The mean specimen size was 29.5x21.1 mm. The mean procedure time was 49.4 minutes (range: 8~103 minutes). Gastric perforation was a complication in 2 cases with GIST. However, the two perforated cases were treated with endoscopic closure using endoclips and recovered without the need for surgery. CONCLUSIONS: An endoscopic subtumoral dissection technique is useful for an en-bloc resection of esophageal and gastric submucosal tumors. However, sufficient attention should be paid to the detection of perforations in the case of tumors with a proper muscle origin.
Endosonography ; Gastrointestinal Stromal Tumors ; Hemangioma ; Humans ; Leiomyoma ; Lipoma ; Muscles ; Pancreas ; Stomach