Although the KMT2B gene was identified as a causative gene for early-onset generalized dystonia, the efficacy of deep brain stimulation (DBS) in KMT2B-related dystonia has not been clearly elucidated. Here, we describe a 28-year-old woman who developed generalized dystonia with developmental delay, microcephaly, short stature, and cognitive decline. She was diagnosed with KMT2B- related dystonia using whole-exome sequencing with a heterozygous frameshift insertion of c.515dupC (p.T172fs) in the KMT2B gene. Oral medications and botulinum toxin injection were not effective. The dystonia markedly improved with bilateral pallidal DBS (the Burke-Fahn-Marsden Dystonia Rating Scale score was reduced from 30 to 5 on the dystonia movement scale and from 11 to 1 on the disability scale), and she could walk independently. From this case, we suggest that bilateral globus pallidus internus DBS can be an effective treatment option for patients with KMT2B-related generalized dystonia.

BACKGROUND: The 5-level triage tool, the Korean Triage and Acuity Scale (KTAS), was developed based on the Canadian Triage and Acuity Scale and has been used for triage in all emergency medical institutions in Korea since 2016. This study evaluated the association between the decrease in level number and the change in its relative importance for disposition in the emergency department (ED). METHODS: Using the registry of the National Emergency Department Information System (NEDIS) ver. 3.1, data regarding consecutive emergency patients from March 2017 to October 2017 were reviewed retrospectively. Reconfiguring KTAS levels, a total of 15 multinomial logistic regression models (KTAS_0 to KTAS_14), including the KTAS, its variants, and covariates were constructed to determine significant factors affecting ED disposition. The relative importance of each model was obtained using a dominance analysis. RESULTS: A total of 79,771 patients were included in the analysis. In the model KTAS_0, the KTAS and 8 covariates were found to be significantly related to ED disposition. The KTAS and the decision maker of each ED visit, whether it was the physician or others, had the largest relative importance, 34.8% and 31.4%, respectively (P < 0.001). In other models of KTAS variants, including 4-level, 3-level and 2-level, the rates of the KTAS decreased to 31.8% (interquartile range [IQR], 28.9–34.2), 26.4% (IQR, 23.2–31.0), and 18.7% (IQR, 7.5–24.9), respectively (P = 0.016). On the other hand, the rates for covariates tended to be larger for smaller triage levels and so there was a significant interaction effect between the KTAS and the covariates according to the triage level (P < 0.001). CONCLUSION: The 5-level triage tool, the KTAS, had the largest relative importance among the predictors affecting ED disposition only at its original level. Therefore, it is recommended that no attempt should be made to reduce the number of levels in the triage tool.
Cohort Studies ; Emergencies ; Emergency Service, Hospital ; Hand ; Humans ; Information Systems ; Korea ; Logistic Models ; Registries ; Retrospective Studies ; Triage

Alimentary tract duplications are uncommon congenital anomalies that usually present during the first decade of life. Complete duplication of the colon in adults is very rare and difficult to diagnose preoperatively. We report a case of a 40-year-old female with complete tubular duplication which was initially misdiagnosed as a salpingeal abscess due to colovaginal fistula.
Abscess ; Adult* ; Colon* ; Female ; Fistula* ; Humans

We report the case of a 57-year-old woman with abdominal discomfort. The patient had anemia and hypoalbuminemia. Esophagogastroduodenoscopy and colonoscopy revealed diffuse infiltrative lesions at the stomach, duodenum, and ascending colon. Multiple biopsies were taken and histological examination of the biopsies from the stomach, duodenum and colon showed amyloid deposits stained positively with Congo red. Immunohistochemistry study showed positive sign of kappa and lambda chain at light chain stain. In addition, monoclonal components at serum electrophoresis confirmed the diagnosis of amyloid light-chain amyloidosis. The patient was treated with thalidomide and dexamethasone.
Amyloid ; Amyloidosis* ; Anemia ; Biopsy ; Colon* ; Colon, Ascending ; Colonoscopy ; Congo Red ; Dexamethasone ; Diagnosis ; Duodenum* ; Electrophoresis ; Endoscopy ; Endoscopy, Digestive System ; Female ; Humans ; Hypoalbuminemia ; Immunohistochemistry ; Middle Aged ; Plaque, Amyloid ; Stomach* ; Thalidomide

We report here a case of oral myiasis in the Republic of Korea. The patient was a 37-year-old man with a 30-year history of Becker's muscular dystrophy. He was intubated due to dyspnea 8 days prior to admission to an intensive care unit (ICU). A few hours after the ICU admission, 43 fly larvae were found during suction of the oral cavity. All maggots were identified as the third instars of Lucilia sericata (Diptera: Calliphoridae) by morphology. We discussed on the characteristics of myiasis acquired in Korea, including the infection risk and predisposing factors.
Adult ; Animals ; Diptera/anatomy & histology/*classification ; Humans ; Larva/anatomy & histology/classification ; Male ; Mouth/*parasitology ; Myiasis/*diagnosis/*parasitology ; Republic of Korea

OBJECTIVE: The aim of this study was to examine clinical characteristics of Korean rheumatoid arthritis (RA) patients with clinically indications for TNF-alpha blocker, and to compare their clinical parameters with the Korean National Health Insurance reimbursement criteria. METHODS: Data were obtained from a registry of RA patients who visited rheumatology clinics of Hallym University affiliated hospitals. Among patients who were previously prescribed DMARDs for more than three months, rheumatologists selected patients clinically indicated for TNF-alpha blocker. The clinical characteristics at the time TNF-alpha blocker use was deemed indicated were examined. Radiographic damage was quantified by Modified Sharp van der Heijde score in hand and foot simple AP radiograph. RESULTS: From August 2010 to January 2013, five rheumatologists in four hospitals selected 109 patients clinically indicated for TNF-alpha blocker. When TNF-alpha blocker was considered, mean DAS28 was 5.2 (range 2.1~8.05), mean swollen joint count was 6 (range 0~22), mean tender joint count was 10.6 (range 0~28), mean ESR was 43.2 mm/hr (range 1~140) and mean CRP was 2.5 mg/dL (range 0.1~18.3). The mean total modified Sharp van der Heijde score was 32.72 (range 0~240). Eighty one percent of subjects did not have enough active joints to satisfy the Korean National Health Insurance reimbursement standard. CONCLUSION: Our results show that patients with clinically indications for TNF-alpha blocker had a broad range of disease activity and clinical parameters, and the majority did not meet the Korean National Health Insurance reimbursement criteria.
Antirheumatic Agents ; Arthritis, Rheumatoid* ; Foot ; Hand ; Humans ; Joints ; National Health Programs ; Rheumatology ; Tumor Necrosis Factor-alpha*

Hemophagocytic syndrome (HPS) is an uncommon hematological disorder that manifests as fever, splenomegaly, and jaundice, with hemophagocytosis in the bone marrow and other tissues pathologically. Secondary HPS is associated with malignancy and infection, especially viral infection. The prevalence of cytomegalovirus (CMV) infection in ulcerative colitis (UC) patients is approximately 16%. Nevertheless, HPS in UC superinfected by CMV is very rare. A 52-year-old female visited the hospital complaining of abdominal pain and hematochezia for 6 days. She was diagnosed with UC 3 years earlier and had been treated with sulfasalazine, but had stopped her medication 4 months earlier. On admission, her spleen was enlarged. The peripheral blood count revealed pancytopenia and bone marrow aspiration smears showed hemophagocytosis. Viral studies revealed CMV infection. She was treated successfully with ganciclovir. We report this case with a review of the related literature.
Antiviral Agents/therapeutic use ; Colitis, Ulcerative/*complications/drug therapy ; Cytomegalovirus Infections/*complications/drug therapy ; Female ; Ganciclovir/therapeutic use ; Gastrointestinal Agents/therapeutic use ; Gastrointestinal Hemorrhage/etiology ; Humans ; Lymphohistiocytosis, Hemophagocytic/drug therapy/*virology ; Middle Aged ; Sulfasalazine/therapeutic use ; Superinfection/*complications

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: Entecavie (ETV) has a potent antiviral effect and low rates of resistance in hepatitis B virus (HBV) and is the first-line monotherapy in patients with HBV-related decompensated cirrhosis. We evaluated the efficacy of 12 months treatment with ETV and tried to determine predictive factors of response. METHODS: Forty-five consecutive decompensated cirrhotic patients who received ETV (0.5 mg/day) for more than six months were included. All patients were positive for HBV DNA, and the Child-Turcotte-Pugh (CTP) scores were over 8 point. Seventeen patients were HBeAg-positive. CTP score, model for end-stage liver disease (MELD) score, serum markers of liver function and HBV DNA were assessed every 3 months. RESULTS: ETV treatment for 12 months resulted in improvement of CTP and MELD scores. Pre-treatment mean CTP and MELD score were decreased from 10.1 (+/-2.0) and 13.48 (+/-4.05) to 7.24 (+/-2.0) and 9.68 (+/-4.85) at 12 months, respectively. The 1-year cumulative rates of HBV DNA negativity and HBeAg loss were 88.9% and 52.9%, respectively, by intention-to-treat analysis. Thirty-two (71.1%) showed improvement in CTP score. Eleven patients did not show change, and 2 patients got worse. The AST/ALT, albumin, bilrubin, prothrombin time were significantly normalized within six months. The good responder group had high level of prothrombin time than the poor responder group (p=0.004). CONCLUSIONS: Our result shows that entecavir can improve liver function in about 70% of patients with HBV related decompensated liver cirrhosis. INR may be a predictive factor of good response with entecavir in these patients.
Adult ; Aged ; Alanine Transaminase/blood ; Antiviral Agents/*therapeutic use ; Bilirubin/blood ; DNA, Viral/analysis ; Drug Administration Schedule ; Female ; Guanine/*analogs & derivatives/therapeutic use ; Hepatitis B e Antigens/blood ; Hepatitis B virus/*genetics ; Hepatitis B, Chronic/complications/*drug therapy ; Humans ; Liver Cirrhosis/*etiology ; Male ; Middle Aged ; Prothrombin Time ; Serum Albumin/analysis ; Severity of Illness Index

Barrett's esophagus is a metaplasia of the esophageal epithelium of any length, such that normal squamous epithelium is replaced by specialized columnar epithelium with goblet cells. It is important to diagnose and survey Barrett's esophagus because it is believed to be the major risk factor for development of esophageal adenocarcinoma. However, the prevalence of Barrett's esophagus in Korea is low. Mixed connective tissue disease (MCTD) is a systemic disorder in which patients have combinations of the clinical features of systemic lupus erythematosus, systemic sclerosis, and polymyositis. Although gastroesophageal reflux disease is common in esophageal involvement in MCTD, long-segment Barrett's esophagus in MCTD has not been reported in Korea. We report here a 15 cm-long segment of Barrett's esophagus extending to the proximal esophagus in a female patient who has had MCTD for 2 years, and we review the literature.
Adenocarcinoma ; Barrett Esophagus ; Epithelium ; Esophagus ; Female ; Gastroesophageal Reflux ; Goblet Cells ; Humans ; Korea ; Lupus Erythematosus, Systemic ; Metaplasia ; Mixed Connective Tissue Disease ; Polymyositis ; Prevalence ; Risk Factors ; Scleroderma, Systemic