Purpose: Dominant optic atrophy is one of the most common hereditary optic neuropathies, causing progressive bilateral vision loss that begins early in life. Optic atrophy 1 (OPA1) gene mutation brings about mitochondrial dysfunction, which results in clinical manifestations of dominant optic atrophy. Here, we report a case of dominant optic atrophy caused by the c.1334G>A mutation of the OPA1 gene, the first known case in Korea to our knowledge.Case summary: A 12-year-old female patient with no specific medical history or systemic symptoms visited our clinic complaining of a progressive decrease in vision in either eye. Slit-lamp microscopy, intraocular pressure, ocular motility, and pupil reflex were normal. However, her best-corrected visual acuity in both eyes was 20/100, and her color vision was reduced to 8/12 in Ishihara’s test. Fundus examination showed temporal pallor of the optic nerve head in both eyes, and a corresponding cecocentral scotoma was observed on Goldmann visual field examination. Optical coherence tomography revealed significant thinning of the peripapillary retinal fiber layer and macular ganglion cell layer in both eyes. Genetic examination confirmed the c.1334G>A mutation of the OPA1 gene. Conclusions We report a case of dominant optic nerve atrophy caused by c.1334G>A mutation of the OPA1 gene and its clinical manifestations.

Purpose: To evaluate the findings and frequencies of retinal microvascular abnormalities observed in patients with type 1 neurofibromatosis. Methods: Fundus photographs of 61 patients with type 1 neurofibromatosis and 61 controls without systemic disease or ophthalmic abnormalities were retrospectively compared and analyzed. The presence or absence of retinal microvascular abnormalities in the form of simple vascular tortuosity, corkscrew retinal vessels, and moyamoya-like patterns was confirmed, and the diagnostic sensitivity, diagnostic specificity, positive predictive value, negative predictive value, and diagnostic accuracy for type 1 neurofibromatosis were analyzed. Results: Retinal microvascular abnormalities were found in 19.7% (12 patients) of the patient group, There was no cases in the control group, thus. The difference between the patient group and the control group was significant (p = 0.0003). Of the 12 patients with abnormalities, 10 exhibited simple vascular tortuosity, one had corkscrew retinal vessels, and one exhibited both findings. The diagnostic sensitivity of retinal microvascular abnormalities for type 1 neurofibromatosis was 23.53%, the diagnostic specificity was 100%, the positive predictive value was 100%, and the negative predictive value was 61%. The diagnostic accuracy was 65.18%, which was slightly lower than the 79.5% diagnostic accuracy for the Lisch nodule, but the diagnostic accuracy was comparable to that of neurofibroma (68.03%). Conclusion Retinal microvascular abnormalities were observed in 19.7% of type 1 neurofibromatosis patients, of which simple vascular tortuosity was the most common. Considering that retinal microvascular abnormalities were not observed at all in the control group, and the diagnostic accuracy was 65.18%, this type of abnormality could be included as a new ophthalmic clinical feature of type 1 neurofibromatosis.

On December 3, 2014, a type O foot-and-mouth disease (FMD) outbreak began in Korea. Although vaccinations were administered, FMD cases increased steadily for five months, and reached 185 cases by April 2015. Most of the affected animals were pigs, which are vulnerable to vaccination. The FMD virus belonged to the South-East Asia (SEA) topotype that had been observed three times in Korea between April 2010 and July 2014. However, the FMD virus isolated in December 2014 had a unique feature; that is, partial deletion of the 5′ non-coding region, a deletion not seen in previous SEA topotype isolates identified in Korea. We conclude that this outbreak included the introduction of a new FMD strain to Korea, and that Korea was now affected by genetically similar FMD virus strains that are related to those from neighboring countries.
Animals ; Asia ; Foot-and-Mouth Disease ; Korea ; Swine ; Vaccination

Despite nation-wide immunization with O, A, and Asia 1 type vaccines in Republic of Korea, foot-and-mouth disease type O occurred again in July 2014 after three years and three months. This virus was a Mya-98 strain of the Southeast Asian topotype and was most similar to the identified type that circulated in East Asia in 2014. This was new virus with the deletion of 23 amino acids in 3A/3B1 region and low pathogenic property.
Amino Acids ; Animals ; Asia ; Asian Continental Ancestry Group ; Far East ; Foot-and-Mouth Disease Virus* ; Foot-and-Mouth Disease* ; Humans ; Immunization ; Korea* ; Republic of Korea ; Sequence Deletion ; Vaccination ; Vaccines

BACKGROUND AND PURPOSE: No previous studies have investigated the relationship between various anti-ganglioside antibodies and the clinical characteristics of Guillain-Barre syndrome (GBS) in Korea. The aim of this study was to determine the prevalence and types of anti-ganglioside antibodies in Korean GBS patients, and to identify their clinical significance. METHODS: Serum was collected from patients during the acute phase of GBS at 20 university-based hospitals in Korea. The clinical and laboratory findings were reviewed and compared with the detected types of anti-ganglioside antibody. RESULTS: Among 119 patients, 60 were positive for immunoglobulin G (IgG) or immunoglobulin M antibodies against any type of ganglioside (50%). The most frequent type was IgG anti-GM1 antibody (47%), followed by IgG anti-GT1a (38%), IgG anti-GD1a (25%), and IgG anti-GQ1b (8%) antibodies. Anti-GM1-antibody positivity was strongly correlated with the presence of preceding gastrointestinal infection, absence of sensory symptoms or signs, and absence of cranial nerve involvement. Patients with anti-GD1a antibody were younger, predominantly male, and had more facial nerve involvement than the antibody-negative group. Anti-GT1a-antibody positivity was more frequently associated with bulbar weakness and was highly associated with ophthalmoplegia when coupled with the coexisting anti-GQ1b antibody. Despite the presence of clinical features of acute motor axonal neuropathy (AMAN), 68% of anti-GM1- or anti-GD1a-antibody-positive cases of GBS were diagnosed with acute inflammatory demyelinating polyradiculoneuropathy (AIDP) by a single electrophysiological study. CONCLUSIONS: Anti-ganglioside antibodies were frequently found in the serum of Korean GBS patients, and each antibody was correlated strongly with the various clinical manifestations. Nevertheless, without an anti-ganglioside antibody assay, in Korea AMAN is frequently misdiagnosed as AIDP by single electrophysiological studies.
Amantadine ; Antibodies* ; Axons ; Cranial Nerves ; Facial Nerve ; Guillain-Barre Syndrome* ; Humans ; Immunoglobulin G ; Immunoglobulin M ; Korea ; Male ; Ophthalmoplegia ; Prevalence*

BACKGROUND AND OBJECTIVES: Aortic valve sclerosis (AVS) is often considered to be benign and it is also considered to be a manifestation of generalized atherosclerosis that involves the aortic valve. However, it is associated with high cardiovascular morbidity and mortality in a population-based study. This study was performed to evaluate the significance of AVS in patients with suspected coronary artery disease (CAD). SUBJECTS AND METHODS: Patients with AVS (AVS group, n=111) and patients with normal aortic valves (control group, n=99) who underwent coronary angiography (CAG) between May, 2004 and June, 2004 were enrolled in this study. We compared the CAG findings and the CAD risk factors in both groups, and we evaluated the diagnostic value of AVS for predicting CAD. We also performed multivariate logistic regression analysis for the risk factors, including AVS, of CAD. RESULTS: This study showed that AVS is an independent echocardiographic predictor of significant CAD in the patients with suspected CAD (OR=2.55, 95% CI: 1.25 to 5.17, p<0.001). The other independent predictors include the male gender and hypertension. AVS has a relatively high positive predictive value (75.7%) and predictive accuracy (65.2%) for the patients with suspected CAD. CONCLUSION: The recognition of AVS on transthoracic echocardiography should alert the physicians to the possibility of significant underlying CAD and further evaluation is indicated, even though angiographic documentation might not be available.
Aortic Valve* ; Atherosclerosis ; Coronary Angiography ; Coronary Artery Disease* ; Coronary Disease ; Coronary Vessels* ; Echocardiography ; Humans ; Hypertension ; Logistic Models ; Male ; Mortality ; Risk Factors* ; Sclerosis*

PURPOSE: The purpose of this study was to describe technological development, caring attributes and professional self-concept as perceived by nurses in YanBian. METHOD: Data were collected using an instrument containing 137 Likert items was administered to 477 RN's working in general hospitals in YanBian. The instrument contained sections which examined technological influences questionnaire(TIQ), caring attributes questionnaire(CAQ), and professional self-concept nursing inventory(PSCNI). RESULT: Descriptive and inferential statistics revealed by marital status and position. Married, working special ward nurses reported a higher TIQ score than that of unmarried and working general ward and OPD. PSCNI and CAQ score of head or supervisor nurses were higher than that of staff nurses. Subjects revealed very low score of CAQ, while PSCNI score was higher than that of other Asian countries such as Korea, Beijing China, HongKong China and Japan as proved in former study. CONCLUSION: Useful information for educators and nurse administrators is provided from this results. Further study needs to be done to discuss in the light of cultural and environmental differences between YanBian(Korean-Chinese) and Korean nurses.

BACKGROUND: Core needle biopsy (CNB) is widely used as the initial sampling method for breast cancer. And because frozen section (FS) diagnosis is rapid and reliable, we studied the diagnostic agreement between the diagnosis of FS of CNB and final diagnosis after surgery to evaluate the diagnostic accuracy of the FS of CNB. METHODS: Of 409 patients who were preoperatively diagnosed by FS of CNB and who underwent final surgery from 1996 through 2000, 24 cases were found to be ductal carcinoma in situ (DCIS) and 385 cases invasive carcinoma (IC). The diagnoses of FS of CNB were compared with final diagnoses. RESULTS: The diagnostic accuracy of carcinoma is 63.6% for DCIS and 86.9% for invasive carcinoma. Five cases (1.2%) could not be diagnosed because of material insufficiency for diagnosis. Twenty two cases (5.4%) were diagnosed as benign on FS, among which 20 (90.9%) were misdiagnosed by sampling error. Twenty seven cases (6.7%) were deferred on FS, 4 of these cases were DCIS, 5 were invasive lobular carcinoma (ILC), the rest displayed low nuclear grades or marked freezing artifacts. CONCLUSIONS: The diagnostic accuracy of FS of CNB is very high except for cases of ILC and low grade DCIS. Considering the advantage of rapid evaluation, more definitive diagnosis, familiarity by pathologists and availability of ancillary study, FS of CNB is very useful method as the preoperative evaluation.
Animals ; Artifacts ; Biopsy, Large-Core Needle* ; Biopsy, Needle ; Breast Neoplasms* ; Breast* ; Carcinoma, Intraductal, Noninfiltrating ; Carcinoma, Lobular ; Diagnosis ; Freezing ; Frozen Sections* ; Humans ; Mammary Neoplasms, Animal ; Recognition (Psychology) ; Selection Bias

BACKGROUND: Carcinoembryonic antigen (CEA) is a glycoprotein on cellular surface, which is highly condensed in embryonic tissue and tumor of various kinds. Previous study found out that CEA may grow with various cancer or other diseases other than cancer as well. Besides, it is widely known that smoking also influences the rise in CEA. Among the same smokers, some of them show high CEA figures in serum when others remain in normal range. There are those whose pulmonary function is not influenced by smoking when that of others are susceptible to it. Therefore, this study was undertaken with an aim to study the relationship between serum CEA and pulmonary function by investigating how the change in pulmonary function caused by smoking influences serum CEA. METHODS: From Nov, 1997 to Feb, 2001, this study carried out tests on adult male smokers ages 35 to 64 who visited a hospital located in Kang Nung city. The subjects were divided into two groups: one group of 29 subjects with high CEA with over 6.0 ng/ml with normal colon study; the other group, which is the CEA normal group, consisted of 58 subjects selected through age adjusted random sampling. Data on personal information, smoking and clinical history was collected from a questionnaire. CEA was tested using radioimmunoassay of Abott. Pulmonary function was examined using Analyzer assembly Vmax 20C from Sensormedics Company. These examinations was limited to those who have been screened not to have cancer by chest X-ray, abdominal ultrasonography, and duodenofibroscopy. RESULTS: Smoking per day for the group with high serum CEA was 1.3 pack ( 0.4 pack), which was found to be significantly higher compared to that of normal group (P<0.01). Pack-years with high serum CEA group was 32.6 13.5 which was also comparatively higher than that of the normal group with 22.4 10.9 (P<0.01). Pulmonary function test indicated that FEV1 for the group with high serum CEA was 3.0 0.5 L, which marked lower than that of the normal group with 3.4 0.5 L (P<0.05). After compensating for age and pack years, FEV1 decreased in proportion to the rise in CEA. CONCLUSION: This study has established a link between serum CEA and daily smoking, pack years, and pulmonary function and found that FEV1 was inversely proportionate to the rise in CEA regardless of corrected pack years and daily smoking. Consequently, serum CEA alone is thought to be related to the pulmonary function. Therefore, it is advised that smokers with high serum CEA need to take heed of the influence on pulmonary function.
Adult ; Carcinoembryonic Antigen* ; Colon ; Glycoproteins ; Humans ; Male* ; Radioimmunoassay ; Reference Values ; Respiratory Function Tests ; Smoke ; Smoking ; Thorax ; Ultrasonography ; Surveys and Questionnaires

Mutation of the p53 gene is one of the most common genetic alterations in invasive breast carcinoma. However, it is unclear that the mutation usually occurs in noninvasive breast lesions. It might be expected that there is a correlation between histologic progression of breast lesions and proliferative rate. We investigated the expression of p53 protein and Ki-67 labelling index (LI) using immunohistochemistry in 16 ductal carcinoma in situ with microinvasion (DCIS-Mi), 56 DCIS, 15 atypical ductal hyperplasia (ADH), and 7 intraductal hyperplasia (IDH). Expression of p53 protein was detected in 33.9% of DCIS and 56.3% of DCIS-Mi and was confined exclusively in Van Nuys DCIS group 2 and 3. In ADH and IDH, no expression of p53 protein was found. There was no significant correlation between Van Nuys DCIS groups and Ki-67 LI. In conclusion, p53 mutation may be involved in the neoplastic progression from ADH to DCIS and is directly related to high nuclear grade and associated necrosis of DCIS.
Breast Neoplasms ; Breast* ; Carcinoma, Ductal* ; Carcinoma, Intraductal, Noninfiltrating* ; Genes, p53 ; Hyperplasia* ; Immunohistochemistry ; Necrosis