The chest radiographs and angiograms were retrospectively evaluated in 47 patients with pulmonary atresia (PA) and ventricular septal defect (VSD) to determine the characteristic findings of major aortopulmonary collateral arteries (MAPCSs) on the chest radiographs. Of 47 patients, 23 had MAPCAs and 24 had only PDA for blood supply of whole right and left lung. Chest radiographs enabled identification of 16 of 23 patients with MAPCAs. The most common finding of MAPCAs was inappropriately large peripheral pulmonary vasculature (n=16, 69.6%). The other findings were tortuosity of pulmonary vasculature (n=12, 52.2%), focal unevendistribution of pulmonary vasculature (n=12, 52.2%), and two descending pulmonary arteries (n=4, 17.4%). When chest radiographs showed two or more findings of MAPCAs, MAPCAs could be differentiated from PDA with statistical significance (p<0.005). It is concluded that chest radiographs may help to identify MAPCAs before angiography if two-dimensional echo ardiography suggests PA with VSD.
Angiography ; Arteries* ; Heart Septal Defects, Ventricular* ; Humans ; Lung ; Pulmonary Artery ; Pulmonary Atresia* ; Radiography, Thoracic ; Retrospective Studies ; Thorax*

OBJECTIVE: The cytogenetic analysis for earlier detection of fetal chromosome aneuploidies is performed from chorionic villus using either long-term culture or direct chromosome preparation. To analyze the cause of pregnancy loss, we also attempt the cytogenetic study in product of conception(POC) using chorionic villi or fetal tissue. But the failure of analysis often occurs in direct preparation of villus cells and product of conception(POC). We studied to evaluate the clinical usefulness of FISH in uncultured chorionic villus cells of culture-failed cases. METHODS: According to the patient's indication, we performed FISH for chromosome 18, 21, X and Y in chorionic villi as well as POC and compared FISH results with their chromosomal studies. RESULTS: We found one trisomy 18 and one trisomy 21 in Chorionic Villus Sampling and one trisomy 18 and one monosomy X(45, X) in POC. The averages for accuracy of FISH were 83-91% and all cases are represented consistent results with their chromosomal studies. Among them, we could analyze using FISH only in 5 cases of culture failure including one case of monosomy X in POC. CONCLUSION: We could detect aneuploidy with uncultured chorionic villus cells in case of culture failure, using FISH, it may be the potential method to assist the cytogenetic study.
Aneuploidy ; Chorion* ; Chorionic Villi Sampling ; Chorionic Villi* ; Chromosomes, Human, Pair 18 ; Cytogenetic Analysis ; Cytogenetics ; Down Syndrome ; Female ; Fetus ; Monosomy ; Pregnancy ; Trisomy ; Turner Syndrome

The incidence of systemic lupus erythematosus (SLE) is known to be affected by sex hormone. Patients with Klinefelter's syndrome were reported to have abnormal sex hormonal metabolism and their chronic estrogenic stimulation seems to affect the pathogenesis of SLE. Therefore, association of SLE and Klinefelter's syndrome has been considered as a clue of the effect of sex hormone on SLE. We report the first case of Klinefelter's syndrome in a patient with SLE in Korea and discuss the association of SLE with Klinefelter's syndrome.
Estrogens ; Humans ; Incidence ; Klinefelter Syndrome* ; Korea ; Lupus Erythematosus, Systemic* ; Metabolism

Wegener's granulomatosis is a serious multi-systemic disease pathologically characterized by necrotizing vasculitis and granuloma. Although nervous system is one of major target organs in Wegener's granulomatosis, the involvement of facial nerve was rarely reported as an initial symptom. We experienced a female patient with Wegener's granulomatosis presenting otitis media, sinusitis and right facial palsy. Nasal mucosal biopsy revealed necrotizing vasculitis with granuloma formation, which was consistent with Wegener's granulomatosis. During steroid and cyclophosphamide therapy, she developed paralysis of abducens nerve. Methyprednisolone pulse therapy was administrated with symptomatic improvement. We describe a case of Wegener's granulomatosis presenting facial nerve palsy.
Abducens Nerve ; Biopsy ; Cyclophosphamide ; Facial Nerve ; Facial Paralysis* ; Female ; Granuloma ; Humans ; Nervous System ; Otitis Media ; Paralysis ; Sinusitis ; Vasculitis ; Wegener Granulomatosis*

OBJECTIVE: To determine the fetal aneuploidy in fetal blood cells from cordocentesis. METHODS: We analyzed their karyotype and performed fluorescence in situ hybridization(FISH) for chromosome 18, 21, X, and Y in 14 cases of fetal blood cells from cordocentesis at Department of Obstetrics & Gynecology, College of Medicine, Seoul National University and Hamchoon Women's Clinic. RESULTS: In all cases we obtained the consistent results in both methods and were able to rapidly detect aneuploidy in uncultured fetal blood cells using FISH before karyotyping with culture for 48 hr. The averages for accuracy of FISH were from 84.6 % to 93.9%. CONCLUSION: In this study we suggest that the rapid detection in uncultured fetal blood using FISH is possible and that this diagnostic method will be clinically useful when rapid result would be demanded.
Aneuploidy* ; Chromosomes, Human, Pair 18 ; Cordocentesis ; Fetal Blood* ; Fluorescence* ; Gynecology ; In Situ Hybridization* ; Karyotype ; Karyotyping ; Obstetrics ; Seoul

Background/Aims: Although metabolic syndrome has been associated with increasing medical costs worldwide, there have been no studies using a nationwide and longitudinal South Korean dataset. We investigated trends in subsidized medical costs among Korean adults with metabolic syndrome. Methods: This study was based on the National Sample Cohort database of South Korea. We used data of national health checkups in 2009 as well as data of subsidized prescription drugs and the Korean Classification of Disease diagnosis codes from claims in 2007 to 2008 to identify underlying diseases. We calculated the direct medical costs, which were subsidized by the Korean National Health Insurance, among 204,768 individuals older than 20 years from 2009 to 2013. Results: The proportion of subjects with metabolic syndrome was 27.2%. Direct medical costs for 5 years differed by a magnitude of 2.16 between subjects with and without metabolic syndrome. The costs increased by approximately 41.8% in the metabolic syndrome group in 5 years. Direct medical costs increased with every additional risk factor, even if a subject had less than three risk factors of metabolic syndrome. Metabolic syndrome per se and all of its components, except low serum high-density lipoprotein cholesterol level, resulted in a significant increase in medical costs. Conclusions The medical costs of subjects with metabolic syndrome were higher than that of those without metabolic syndrome and it increased with the number of risk factors. Further research using cumulative data of more than 10 years, including unsubsidized and indirect costs, is needed in the future.

BACKGROUND: The present study investigates the efficacy in glycemic control by adding once-a-day glulisine to glargine as a basal plus regimen and factors influencing glycemic control with the basal plus regimen in Korean subjects with type 2 diabetes. METHODS: In the present retrospective study, subjects previously treated with the basal plus regimens for at least 6 months were reviewed. Changes in glycemic profiles and clinical parameters were evaluated. RESULTS: A total of 87 subjects were ultimately enrolled in this study. At baseline, mean glycated hemoglobin (A1c) and glycated albumin were 8.5% (8.0% to 9.6%) and 25.2+/-7.6%, respectively. After treatment with the basal plus regimen, patients had significant reductions of A1c at 6 months (0.8+/-0.1%, P<0.001) and their postprandial glucose levels were decreased by 48.7+/-10.3 mg/dL (P<0.001). Multiple logistic regression showed old age (odds ratio [OR], 1.25; 95% confidence interval [CI], 1.02 to 1.55), high initial A1c (OR, 22.21; 95% CI, 2.44 to 201.78), and lower amounts of glargine (OR, 0.85; 95% CI, 0.76 to 0.99), and glimepiride (OR, 0.23; 95% CI, 0.06 to 0.93) at baseline were independently associated with good responders whose A1c reduction was more than 0.5%. CONCLUSION: The authors suggest a basal plus regimen may be effective in reducing glucose levels of subjects with old age, high initial A1c, and patients on low doses of glimepiride and glargine. Despite the use of high doses of hypoglycemic agents, elderly patients with poorly-controlled diabetes are preferred for early initiation of the basal plus regimen.
Aged ; Diabetes Mellitus, Type 2 ; Glucose ; Hemoglobins ; Humans ; Hypoglycemic Agents ; Insulin ; Insulin, Long-Acting ; Insulin, Short-Acting ; Logistic Models ; Retrospective Studies ; Serum Albumin ; Sulfonylurea Compounds ; Insulin Glargine

OBJECTIVE: To set up the methodology for PCR analysis of XbaI/intron 22 polymorphism of the factor VIII gene, and to identify the usefulness of XbaI/intron 22 polymorphism analysis for carrier detection and prenatal diagnosis of hemophilia A in the Korean population. DESIGN: A laboratory analysis. MATERIALS AND METHODS: A XbaI/intron 22 polymorphism of the factor VIII gene was analyzed in 56 unrelated Korean mothers of patients with severe hemophilia A, using polymerase chain reaction. RESULTS: Analysis of XbaI/intron 22 polymorphisms of the factor VIII gene were feasible by PCR method. The expected heterozygosity rates of XbaI/intron 22 polymorphism of the factor VIII gene were 44.8%. Analysis of XbaI/intron 22 polymorphism revealed heterozygous patterns in 22 (39.3%) of 56 mothers studied. Using linkage analysis with XbaI/intron 22 polymorphism, we have attempted one case of carrier detection and two cases of prenatal diagnosis in two families of patients with severe hemophilia A. CONCLUSION: These results suggest that PCR analysis of the XbaI/intron 22 polymorphism within the factor VIII gene is very useful in the carrier detection and prenatal diagnosis of hemophilia A in the Korean population.
Diagnosis* ; DNA* ; Factor VIII ; Hemophilia A* ; Humans ; Molecular Biology* ; Mothers ; Polymerase Chain Reaction* ; Prenatal Diagnosis

BACKGROUND: The use of dipeptidyl peptidase-4 (DPP-4) inhibitors is increasing among renal transplant patients with diabetes. However, the glucose-lowering efficacies of various DPP-4 inhibitors and their effects on blood cyclosporine levels have not been fully investigated. We compared the glucose-lowering efficacies of DPP 4 inhibitors and evaluate their effects on the blood levels of cyclosporine in renal transplant recipients with diabetes. METHODS: Sixty-five renal allograft recipients who received treatment with DPP-4 inhibitors (vildagliptin, sitagliptin, or linagliptin) following kidney transplant were enrolled. The glucose-lowering efficacies of the DPP-4 inhibitors were compared according to the changes in the hemoglobin A1c (HbA1c) levels after 3 months of treatment. Changes in the trough levels of the cyclosporine were also assessed 2 months after treatment with each DPP-4 inhibitor. RESULTS: HbA1c significantly decreased in the linagliptin group in comparison with other DPP-4 inhibitors (vildagliptin –0.38%±1.03%, sitagliptin –0.53%±0.95%, and linagliptin –1.40±1.34; P=0.016). Cyclosporine trough levels were significantly increased in the sitagliptin group compared with vildagliptin group (30.62±81.70 ng/mL vs. –24.22±53.54 ng/mL, P=0.036). Cyclosporine trough levels were minimally changed in patients with linagliptin. CONCLUSION: Linagliptin demonstrates superior glucose-lowering efficacy and minimal effect on cyclosporine trough levels in comparison with other DPP-4 inhibitors in kidney transplant patients with diabetes.
Allografts ; Cyclosporine* ; Diabetes Mellitus ; Dipeptidyl-Peptidase IV Inhibitors ; Humans ; Hyperglycemia* ; Kidney ; Kidney Transplantation ; Pilot Projects* ; Transplantation

Development of myoclonus can manifest as a side effect of antiepileptic drugs in subjects with preexisting epilepsy, post-traumatic brain injury, encephalopathy, or focal and multifocal brain lesions. A 69-year-old male showed new onset severe myoclonus and confusion two days after taking 1200 mg gabapentin. The patient had end-stage renal disease secondary to type 2 diabetes and was receiving hemodialysis twice a week. After increasing hemodialysis to three times a week and discontinuing gabapentin, myoclonus spontaneously resolved. Here we report the first case of myoclonus in a Korean subject with diabetic renal failure. We recommend caution in the administration of gabapentin for diabetic subjects with renal disease.
Aged ; Amines ; Anticonvulsants ; Brain ; Brain Injuries ; Cyclohexanecarboxylic Acids ; Diabetic Neuropathies ; Epilepsy, Post-Traumatic ; gamma-Aminobutyric Acid ; Humans ; Kidney Failure, Chronic ; Male ; Myoclonus ; Renal Dialysis ; Renal Insufficiency