PURPOSE: Spinocerebellar ataxias (SCAs) are progressive neurodegenerative disorders with diverse modes of inheritance. There are several subtypes of SCAs. SCA 8, SCA 12, and SCA 17 are the less common forms of SCAs with limited information available on their epidemiological profiles in Korea. The purpose of this study was to investigate the prevalence of SCA8, SCA12, and SCA17 in Korea. MATERIALS AND METHODS: Ninety-six unrelated Korean patients were enrolled and showed normal trinucleotide repeats through polymerase-chain reaction (PCR) for the genes ATXN1, ATXN2, ATXN3, CACNA1A , and ATXN7, which correspond to SCA1, SCA2, SCA3, SCA6, and SCA7, respectively. PCR products from patients were further analyzed by capillary electrophoresis using fluorescence labeled primers for the genes ATXN8OS, PPP2R2B, and TBP, which correspond to SCA8, SCA12, and SCA17. RESULTS: Three patients had 104, 97, and 75 abnormal expanded repeats in the ATXN8OS gene, the causative gene for SCA8. None of the patients exhibited abnormal repeats in SCA12 and SCA17. Normal trinucleotide repeat ranges of the cohort in this study were estimated to be 17-34 copies (average, 24+/-4 copies) for SCA8, 7-18 copies (average, 13+/-3 copies) for SCA12, and 26-43 copies (average, 35+/-2 copies) for SCA17. CONCLUSION: This study demonstrated that SCA8, SCA12, and SCA17 are rare in Korean patients with SCA, and further genetic studies are warranted to enhance the mutation detection rate in the Korean SCA population.
Asian Continental Ancestry Group ; Cohort Studies ; Electrophoresis, Capillary ; Fluorescence ; Humans ; Korea ; Neurodegenerative Diseases ; Polymerase Chain Reaction ; Prevalence ; Repetitive Sequences, Nucleic Acid* ; Spinocerebellar Ataxias* ; Trinucleotide Repeats ; Wills

BACKGROUND/AIMS: Adipose tissue is an active endocrine organ that secretes various metabolically important substances including adipokines, which represent a link between insulin resistance and nonalcoholic steatohepatitis (NASH). The factors responsible for the progression from simple steatosis to steatohepatitis remain elusive, but adipokine imbalance may play a pivotal role. We evaluated the expressions of adipokines such as visfatin, adipocyte-fatty-acid-binding protein (A-FABP), and retinol-binding protein-4 (RBP-4) in serum and tissue. The aim was to discover whether these adipokines are potential predictors of NASH. METHODS: Polymerase chain reaction, quantification of mRNA, and Western blots encoding A-FABP, RBP-4, and visfatin were used to study tissue samples from the liver, and visceral and subcutaneous adipose tissue. The tissue samples were from biopsy specimens obtained from patients with proven NASH who were undergoing laparoscopic cholecystectomy due to gallbladder polyps. RESULTS: Patients were classified into two groups: NASH, n=10 and non-NASH, n=20 according to their nonalcoholic fatty liver disease Activity Score. Although serum A-FABP levels did not differ between the two groups, the expressions of A-FABP mRNA and protein in the visceral adipose tissue were significantly higher in NASH group than in non-NASH group (104.34 vs. 97.05, P<0.05, and 190.01 vs. 95.15, P<0.01, respectively). Furthermore, the A-FABP protein expression ratio between visceral adipose tissue and liver was higher in NASH group than in non-NASH group (4.38 vs. 1.64, P<0.05). CONCLUSIONS: NASH patients had higher levels of A-FABP expression in their visceral fat compared to non-NASH patients. This differential A-FABP expression may predispose patients to the progressive form of NASH.
Adipose Tissue/metabolism/pathology ; Adult ; Aged ; Fatty Acid-Binding Proteins/genetics/*metabolism ; Fatty Liver/metabolism/*pathology ; *Gene Expression Regulation ; Humans ; Intra-Abdominal Fat/*metabolism ; Liver/metabolism/pathology ; Middle Aged ; Nicotinamide Phosphoribosyltransferase/genetics/metabolism ; RNA, Messenger/metabolism ; Retinol-Binding Proteins, Plasma/genetics/metabolism

BACKGROUND: Chronic obstructive pulmonary disease (COPD) is a major cause of chronic morbidity and mortality throughout the world and is the only major disease that is continuing to increase in both prevalence and mortality. The second Korean National Health and Nutrition Survey revealed that the prevalence of COPD in Korean subjects aged > or =45 years was 17.2% in 2001. Further surveys on the prevalence of COPD were not available until 2007. Here, we report the prevalence of spirometrically detected COPD in Korea, using data from the fourth Korean National Health and Nutrition Survey (KNHANES IV) which was conducted in 2007~2009. METHODS: Based on the Korean Statistical Office census that used nationwide stratified random sampling, 10,523 subjects aged > or =40 years underwent spirometry. Place of residence, levels of education, income, and smoking status, as well as other results from a COPD survey questionnaire were also assessed. RESULTS: The prevalence of COPD (defined as forced expiratory volume in 1 sec/forced vital capacity <0.7 in subjects aged > or =40 years) was 12.9% (men, 18.7%; women, 7.5%). In total, 96.5% of patients with COPD had mild-to-moderate disease; only 2.5% had been diagnosed by physicians, and only 1.7% had been treated. The independent risk factors for COPD were smoking, advanced age, and male gender. CONCLUSION: The prevalence of COPD was 12.9% in the KNHANES IV data. Most patients with COPD were undiagnosed and untreated. Based on these results, a strategy for early COPD intervention is warranted in high risk subjects.
Aged ; Censuses ; Female ; Forced Expiratory Volume ; Humans ; Hypogonadism ; Korea ; Male ; Mitochondrial Diseases ; Nutrition Surveys ; Ophthalmoplegia ; Prevalence ; Pulmonary Disease, Chronic Obstructive ; Surveys and Questionnaires ; Risk Factors ; Smoke ; Smoking ; Spirometry ; Vital Capacity

Takotsubo cardiomyopathy, also called stress-induced cardiomyopathy, usually occurs in patients with severe emotional or physiologic stress. The prognosis is favorable, and the wall motion abnormlities normalize within weeks. However, stress-induced cardiomyopathy is rarely assosicated with left ventricular thrombus and thromboembolic complications. Here, we report a case of stress-induced cardiomyopathy with left ventricular thrombus that embolized to cause cerebral infarction.
Cardiomyopathies ; Cerebral Infarction ; Humans ; Prognosis ; Takotsubo Cardiomyopathy ; Thrombosis

BACKGROUND AND OBJECTIVES: Statin therapy after percutaneous coronary intervention (PCI) has been associated with reduced major adverse cardiovascular events (MACE). However, it has been less clear as to whether statin therapy before acute coronary syndrome (ACS) is beneficial. We studied the effect of previous statin therapy, initiated > or =1 month before PCI, on the outcome of patients with ACS who had undergone early invasive strategies. SUBJECTS AND METHODS: We stratified 479 consecutive patients with ACS who had undergone PCI, according to preprocedural statin administration as follows: previous statin-treated patients (statin group, n=237) and statin-naive patients (control group, n=242). The incidence of periprocedural myocardial infarction (MI) and in-hospital MACE was assessed. RESULTS: The incidence of Braunwald class III angina and MI presentation were significantly lower in the statin group than in the control group. Angiographic and procedural characteristics were similar between the two groups; however, slow/no reflow phenomenon occurred more frequently in the control group. After PCI, the incidence of periprocedural MI was higher in the control group than in the statin group (6.6% vs. 2.1%, p=0.016). Multivariate analysis revealed that no prior use of statin {odds ratio (OR)=2.8; 95% confidence interval (CI)=1.1-7.2; p=0.038), procedural complication (OR=4.0; 95% CI=1.5-10.5; p=0.004), stent overlap (OR=4.7; 95% CI=1.3-16.4; p=0.015), and old age (OR=3.2; 95% CI=1.2-8.0; p=0.016) were independent predictors for in-hospital MACE. CONCLUSION: Previous statin therapy before ACS was associated with milder clinical presentation and lower incidence of in-hospital MACE after early invasive strategies. The beneficial outcome is attributable to a significant reduction in periprocedural MI after PCI.
Acute Coronary Syndrome ; Angioplasty ; Humans ; Incidence ; Multivariate Analysis ; Myocardial Infarction ; Percutaneous Coronary Intervention ; Stents ; Treatment Outcome

Intrathyroidal parathyroid adenoma is an infrequent lesion which can be explained by abnormalities during embryonic migration of the parathyroid glands. Extracapsular hemorrhage from a intrathyroidal parathyroid adenoma is extremely rare, however, due to its location near upper airway, it might cause a life-threatening situation. Therefore, if patients presented with anterior neck painful swelling, skin ecchymosis associated with dysphagia and/or hoarseness, extracapsular hemorrhage from parathyroid adenoma should be considered as a possible diagnosis. Estimation of serum calcium level is essential as the presence of hypercalcemia can help to make the diagnosis pre-operatively. As rupture of a parathyroid adenoma and cyst may lead to local dissemination of tumor cells and an increased risk of recurrent hyperparathyroidism, careful longterm follow-up is required. We report an unusual case of spontaneous rupture of intrathyroidal parathyroid adenoma with a review of literature.
Calcium ; Deglutition Disorders ; Ecchymosis ; Follow-Up Studies ; Hemorrhage ; Hoarseness ; Humans ; Hypercalcemia ; Hyperparathyroidism ; Neck Pain ; Parathyroid Glands ; Parathyroid Neoplasms ; Rupture ; Rupture, Spontaneous ; Skin

Intraneural ganglion of the tibial nerve is very rare. We have experienced a case of the intraneural ganglion cyst in the tibial nerve and medial plantar nerve, which was located at the level of the ankle and foot. A 29-year-old male suffered from lumps causing numbness around the medial aspect of the sole and great toe. But there was no weakness and change of the motor function. We excised the cystic mass successfully and the neurologic symptoms disappeared.
Adult ; Animals ; Ankle ; Foot ; Ganglion Cysts ; Humans ; Hypesthesia ; Male ; Neurologic Manifestations ; Tibial Nerve ; Toes

With the development of the Tenckhoff catheter and subsequent Trochar device for percutaneous placement, a bed-side approach for peritoneal dialysis (PD) catheter insertion has been frequently used by nephrologists. Bleeding complications resulting from PD catheter placement are infrequent and massive bleeding by the rupture of inferior epigastric artery is very rare. We report a case of massive intra-abdominal hematoma caused by traumatic rupture of inferior epigastric artery during percutaneous placement of PD catheter.
Catheters* ; Epigastric Arteries* ; Hematoma* ; Hemorrhage ; Kidney Failure, Chronic ; Peritoneal Dialysis* ; Peritoneal Dialysis, Continuous Ambulatory ; Rectus Abdominis ; Rupture*

We present a 12-year-old female Klippel-Feil syndrome patient who underwent a surgical correction of thoracolumbar scoliosis. The patient had congenital fusion of the cervical vertebrae (C2,3,4,5,6) and showed the classic triad consisting of a low posterior hairline, short neck, and neck motion limitation. Because these patients may have a risk of neurological damage during airway management and subsequent positioning, anesthesiologists need to take care regarding the cervical spine pathology and degree of instability. In this case, fiberoptic bronchoscope guided intubation was performed. We discuss the anesthetic management of Klippel-Feil syndrome patients with a review of the relevant literature.
Airway Management ; Anesthesia ; Bronchoscopes ; Cervical Vertebrae ; Child ; Female ; Humans ; Intubation ; Klippel-Feil Syndrome* ; Neck ; Pathology ; Scoliosis ; Spine

The plica is a remnant of the synovial folds during the coalescence of three compartments of the knee at 8 weeks of fetal development. The plica are classified according to their corresponding anatomic sites of the knee, such as suprapatellar, medial patellar, infrapatellar and lateral patellar plica. The medial patellar plica is considered to be the one most likely to cause problems and has been well documented in the literature. However, there are very few reports of problems being caused by lateral plica. We encountered one case of pathologic lateral plica that was excised by arthroscopy. We report this case with a review of the relevant literature.
Arthroscopy ; Fetal Development ; Knee