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.

Objective: This study aimed to investigate the impact of baseline values and temporal changes in body composition parameters, including skeletal muscle index (SMI) and visceral adipose tissue area (VAT), measured using serial computed tomography (CT) imaging on the prognosis of operable breast cancers in Asian patients. Materials and Methods: This study retrospectively included 627 Asian female (mean age ± standard deviation [SD], 53.6 ± 8.3 years) who underwent surgery for stage I–III breast cancer between January 2011 and September 2012. Body composition parameters, including SMI and VAT, were semi-automatically calculated on baseline abdominal CT at the time of diagnosis and follow-up CT for post-treatment surveillance. Serial changes in SMI and VAT were calculated as the delta values. Multivariable Cox regression analysis was used to evaluate the association of baseline and delta SMI and VAT values with disease-free survival. Results: Among 627 patients, 56 patients (9.2%) had breast cancer recurrence after a median of 40.5 months. The mean value ± SD of the baseline SMI and baseline VAT were 43.7 ± 5.8 cm2 /m2 and 72.0 ± 46.0 cm2 , respectively. The mean value of the delta SMI was -0.9 cm2 /m2 and the delta VAT was 0.5 cm2 . The baseline SMI and VAT were not significantly associated with disease-free survival (adjusted hazard ratio [HR], 0.983; 95% confidence interval [CI], 0.937–1.031; p = 0.475 and adjusted HR, 1.001; 95% CI, 0.995–1.006; p = 0.751, respectively). The delta SMI and VAT were also not significantly associated with disease-free survival (adjusted HR, 0.894; 95% CI, 0.766–1.043; p = 0.155 and adjusted HR, 1.001; 95% CI, 0.989–1.014; p = 0.848, respectively). Conclusion Our study revealed that baseline and early temporal changes in SMI and VAT were not independent prognostic factors regarding disease-free survival in Asian patients undergoing surgery for breast cancer.

No abstract available.
Stroke ; Vision Disorders

BACKGROUND/AIMS: The diagnosis of primary billiary cirrhosis (PBC)-autoimmune hepatitis (AIH) overlap syndrome remains challenging. In 2008, a simplified scoring system was proposed by the International Autoimmune Hepatitis Group, which aimed for wider applicability in routine clinical practice. We evaluated the performance of the new simplified AIH scoring criteria as a diagnostic tool for overlap syndrome. METHODS: We retrospectively reviewed the clinical histories, chemistry, autoimmune studies, and liver biopsy results of 25 patients diagnosed with PBC who visited Soonchunhyang University Hospital, Bucheon and Seoul, between November 2004 and December 2009. Parameters relevant to the revised and simplified scoring criteria were recorded, and outcomes were compared between those with and without features of overlap syndrome. RESULTS: Of 25 patients with a definite diagnosis of PBC, five (20%) were diagnosed with overlap syndrome using the revised criteria, and 18 patients (72%) were diagnosed with the simplified criteria. Those patients diagnosed according to the simplified scoring criteria revealed an increased frequency of anti-nuclear antibody (p = 0.030) and serum IgG levels (p = 0.092). Additionally, advanced fibrosis was significantly more frequent in patients with overlap syndrome (p = 0.017). CONCLUSIONS: The simplified scoring criteria seemed to be useful as a diagnostic tool to recognize overlap syndrome in Korea. However, a relatively small number of patients were included in our study, so further clinical trials based on larger populations should be performed.
Biopsy ; Fibrosis ; Hepatitis ; Hepatitis, Autoimmune ; Humans ; Immunoglobulin G ; Korea ; Liver ; Liver Cirrhosis ; Retrospective Studies

Usher syndrome type II (USH2) is the most common form of Usher syndrome, characterized by moderate to severe hearing impairment and progressive visual loss due to retinitis pigmentosa. It has been shown that mutations in the USH2A gene are responsible for USH2. The authors herein describe a 34-year-old Korean woman with the typical clinical manifestation of USH2; she had bilateral hearing disturbance and progressive visual deterioration, without vestibular dysfunction. Molecular genetic study of the USH2A gene revealed a novel frameshift mutation (c.2310delA; Glu771LysfsX17). She was heterozygous for this mutation, and no other mutation was found in USH2A, suggesting the possibility of an intronic or large genomic rearrangement mutation. To the best of our knowledge, this is the first report of a genetically confirmed case of USH2 in Korea. More investigations are needed to delineate genotype-phenotype correlations and ethnicity-specific genetic background of Usher syndrome.
Female ; Frameshift Mutation ; Genetic Association Studies ; Hearing ; Hearing Loss ; Humans ; Introns ; Korea ; Molecular Biology ; Retinitis Pigmentosa ; Usher Syndromes

BACKGROUND/AIMS: Several noninvasive methods have recently been developed for the evaluation of liver fibrosis. The accuracy of transient elastography (TE), acoustic-radiation-force impulse (ARFI) elastography, and real-time elastography (RTE) in predicting liver fibrosis were evaluated. METHODS: Seventy-four patients who had undergone a liver biopsy within the previous 6 months were submitted to evaluation with TE, ARFI, and RTE on the same day. RESULTS: There were significant correlations between fibrosis stage and liver stiffness measurement (LSM) using the three tested methods: TE, r2=0.272, P=0.0002; ARFI, r2=0.225, P=0.0017; and RTE, r2=0.228, P=0.0015. The areas under the receiver operating characteristic curves (AUROC) for the diagnosis of significant fibrosis (> or =F2, Metavir stage) by TE, ARFI, RTE, TE/platelet count (PLT), velocity of shear wave (Vs)/PLT, and elasticity score (Es)/PLT were 0.727, 0.715, 0.507, 0.876, 0.874, and 0.811, respectively. The AUROC for the diagnosis of cirrhosis by TE, ARFI, RTE, TE/PLT, Vs/PLT, and Es/PLT were 0.786, 0.807, 0.767, 0.836, 0.819, and 0.838, respectively. Comparisons of AUROC between all LSMs for predicting significant fibrosis (> or =F2) produced the following results: TE vs. RTE, P=0.0069; ARFI vs. RTE, P=0.0277; and TE vs. ARFI, P=0.8836. Applying PLT, the ability of each LSM to predict fibrosis stage significantly increased: TE/PLT vs. TE, P=0.0004; Vs/PLT vs. ARFI, P=0.0022; and Es/PLT vs. RTE, P<0.0001. However, the ability to predict cirrhosis was not enhanced, combining LSM and PLT. CONCLUSIONS: TE and ARFI may be better methods for predicting significant liver fibrosis than RTE. This predictive ability increased significantly when accounting for platelet count. However, all of the measures had comparable efficacies for predicting cirrhosis.
Adult ; Aged ; Aged, 80 and over ; Alanine Transaminase/blood ; Aspartate Aminotransferases/blood ; Bilirubin/blood ; *Elasticity Imaging Techniques ; Female ; Humans ; Liver/pathology ; Liver Cirrhosis/diagnosis/*physiopathology ; Male ; Middle Aged ; Odds Ratio ; Platelet Count ; Predictive Value of Tests ; ROC Curve ; Serum Albumin/analysis ; Severity of Illness Index

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

BACKGROUND/AIMS: There was a spiking incidence of acute hepatitis A (AHA) in 2009 summer, but it went down drastically after an outbreak of influenza A (H1N1). We assessed the relationship between 2009 H1N1 pandemic and AHA prevalence from August to December 2009. METHODS: We compared AHA cases nationwide and in our hospital for the period from the latter half of 2008 to the end of 2010. H1N1 cases in our hospital from August 2009 to December 2009 were included in the study and the correlation between 2009 H1N1 pandemic and AHA prevalence was assessed. RESULTS: The national surveillance system reported 2,233, 7,895, 15,231 and 7,660 AHA cases from 2007 to 2010, respectively. A similar trend was noted in our hospital in the same periods. Although the national total incidence was increased in 2009, it showed steep decreasing trend line in the final 21 weeks of 2009 (weeks 32-52), as compared with 2008 and 2010. The mean weekly incidence percentage (AHA cases in a week/total in a year) in weeks 32-52 of 2009 was 1.17+/-0.55%, significantly lower than that in 2008 and 2010 (1.61+/-0.43% and 1.56+/-0.51%; p<0.001). Furthermore, we found a significant negative correlation between 2009 H1N1 pandemic and AHA in our hospital for weeks 32-52 of 2009 (r=-0.597; p<0.001). CONCLUSIONS: The widespread occurrence of 2009 H1N1 pandemic highlighted the benefits of health care and good hygiene, such as effective hand washing and wearing of masks, which may have also interrupted hepatitis A virus transmission.
Acute Disease ; Hepatitis A/*epidemiology ; Humans ; Influenza A Virus, H1N1 Subtype/*isolation & purification ; Influenza, Human/*epidemiology/virology ; Pandemics ; Prevalence ; Republic of Korea/epidemiology ; Seasons

BACKGROUND/AIMS: Endoscopic variceal obliteration (EVO), endoscopic variceal ligation (EVL), and balloon-occluded retrograde transvenous obliteration (BRTO) are used to manage gastric variceal bleeding. We compared the re-bleeding rates and survival times of these modalities. METHODS: The study enrolled 103 patients with suspected gastric variceal bleeding between July 2001 and May 2009. For the management of gastric variceal bleeding, 52 patients underwent EVO; 36, EVL; and 15, BRTO. We evaluated their laboratory results and vital signs, and calculated the Child score, Child classification, and Model for End-stage Liver Disease score. Rebleeding was defined as new-onset hematemesis, hematochezia, melena, or endoscopically proven bleeding. Time-to-rebleeding and survival time were examined by Kaplan-Meyer analysis. A value of p<0.05 indicated statistical significance. RESULTS: There were no significant differences in baseline characteristics among the three groups. The overall follow-up period averaged 65.13 months. During follow-up, rebleeding occurred in 17 patients (11 EVO, 5 EVL, and 1 BRTO). The times-to-rebleeding were 63.59, 75.79, and 51.41 months for EVO, EVL, and BRTO, respectively, and did not differ significantly (p=0.515). The median survival times were 77.42, 70.14, and 42.79 months, respectively, and also were not different significantly (p=0.978). CONCLUSIONS: There were no significant differences in the time-to-rebleeding or survival time among EVO, EVL, and BRTO. Further prospective, large-scale studies are needed.
Adult ; Aged ; *Balloon Occlusion ; Enbucrilate/therapeutic use ; Endoscopy, Gastrointestinal ; Esophageal and Gastric Varices/complications/*therapy ; Female ; Gastrointestinal Hemorrhage/complications/mortality/*therapy ; Humans ; Ligation ; Liver Cirrhosis/complications ; Male ; Middle Aged ; Recurrence ; Retrospective Studies ; Severity of Illness Index

BACKGROUND/AIMS: Sustained HBV DNA reduction is necessary for biochemical remission, histological improvement, and prevention of complications. We analyzed the time taken from HBV DNA loss to viral breakthrough after antiviral treatment in patients with chronic hepatitis B (CHB). The early fall of the HBV DNA level to undetectable levels assessed really whether it is related to late breakthrough. METHODS: A total of 91 patients whose HBV DNA levels dropped below undetectable levels were chosen from lamivudine-treated 306 patients and were analyzed retrospectively. The patients were divided into 4 groups (A< or =12, 1248 wk) according to the time taken for the HBV DNA to decrease below undetectable levels. HBV DNA level was determined every 3 months. RESULTS: The mean time taken for loss of HBV DNA was 34+/-28 wk. The baseline ALT differed significantly among groups (A: 382+/-274, B: 340+/-30, C: 166+/-92, D: 54+/-100 IU/L) (p=0.007). Fifty nine of the 91 patients (64.8%) experienced viral breakthrough. The mean interval between HBV DNA loss and viral breakthrough was 65+/-40 wk and differed significantly between group A, B (82+/-43 wk) and group C, D (56+/-28 wk) (p=0.015). In multivariate analysis, only HBV DNA loss within 24 wk, was found to be independently associated with late viral breakthrough (p=0.035). Undetectable HBV DNA after 24 wk was associated with high odd ratio of 3.24 (95% CI, 1.09-9.67). CONCLUSIONS: HBV DNA loss within 24 wk after antiviral treatment could predict the late breakthrough.
Adult ; Alanine Transaminase/blood ; Antiviral Agents/therapeutic use ; Aspartate Aminotransferases/blood ; DNA, Viral/blood ; Drug Administration Schedule ; Female ; Hepatitis B virus/*isolation & purification ; Hepatitis B, Chronic/drug therapy/*virology ; Humans ; Lamivudine/therapeutic use ; Male ; Middle Aged ; Odds Ratio ; *Predictive Value of Tests ; Retrospective Studies