PURPOSE: MEN1 gene mutation causes multiple endocrine neoplasia type 1. It also suggests that somatic MEN1 gene mutation plays a role in sporadic endocrine tumor. In this study, we examined whether somatic mutations of MEN1 gene are responsible for sporadic parathyroid tumors and correlate with clinical manifestations of parathyroid tumors. METHODS: Somatic mutation of MEN1 gene in the formalin-fixed, paraffin-embedded parathyroid tumor tissue from 8 adenomas, 2 carcinomas and 1 hyperplasia were analyzed by direct sequencing. Clinicopathological parameters were reviewed from medical records and compared with the mutational data. RESULTS: Eight of eleven (73%) sporadic parathyroid tumors had somatic MEN1 mutations of 14 different types. In the 14 types, 13 were a point mutation which is composed of 8 missense mutations, 2 nonsense mutations and 3 silent mutations. One of 14 types is a frameshift deletion of 27 base pairs in exon 2. Somatic mutation was frequent in the exon 2 and exon 10. Four types of polymorphism were found. There was no correlation between the presence of mutations and clinicopathological phenotype of parathyroid tumors. CONCLUSION: This result suggests that somatic mutation of MEN1 gene plays a definite role in sporadic parathyroid tumor formation.
Adenoma ; Base Pairing ; Codon, Nonsense ; Exons ; Hyperplasia ; Medical Records ; Multiple Endocrine Neoplasia Type 1 ; Mutation, Missense ; Phenotype ; Point Mutation

No abstract available.
Animals ; Antibiotics, Antifungal/*therapeutic use ; Humans ; Immunosuppression/*methods ; Protein Structure, Tertiary ; T-Lymphocytes/*immunology ; *Transduction, Genetic

A 47-year-old woman with stage IV chronic kidney disease developed a fistula between common carotid artery (CCA) and internal jugular vein (IJV) during central catheterization of the right IJV. The patient was treated with a self-expandable graft stent, which achieved successful closure of the carotid-jugular fistula. As demonstrated in our case, self-expandable graft stents could be a feasible treatment option for CCA-IJV fistulas without additional interventional procedures such as balloon angioplasty.
Angioplasty, Balloon ; Carotid Artery, Common* ; Catheterization, Central Venous ; Female ; Fistula* ; Humans ; Jugular Veins* ; Middle Aged ; Renal Insufficiency, Chronic ; Stents* ; Transplants*

The Landsteiner–Wiener (LW) antigen is a type of red blood cell antigen. Anti-LW appears in various situations, including alloantibodies, autoantibodies, and even transiently occurring antibodies. Anti-LW has similar characteristics to anti-D, so it can interfere with interpreting pre-transfusion tests and finding compatible blood. This paper introduces three cases in whom anti-LW was detected through antibody identification tests. All three cases were examined using the column agglutination technique with ID-DiaPanel (Bio-Rad, Hercules, CA, USA) on a LISS/Coombs card, ID-DiaPanel p (Bio-Rad) on a NaCl/Enzyme card, and ID-DiaPanel (Bio-Rad) on a LISS/Coombs card using red blood cells treated with dithiothreitol. The auto-control test, direct antiglobulin test, and umbilical cord blood test were also performed. In all three cases, the reaction with D-positive panel cells was stronger than that with the D-negative panel cells, and two of them showed a pan-agglutinated reaction in ID-DiaPanel p (Bio-Rad) with NaCl/Enzyme card. They were reported as anti-LW, and as in these cases, anti-LW can occur under a range of conditions and interfere with proper transfusion. Therefore, it is important to identify anti-LW accurately, and if anti-LW is present, the transfusion of D-negative ABO matched blood should be recommended because of the low expression of the LW-antigen. On the other hand, D-positive blood is not a contraindication when an urgent transfusion is needed.

Propionic acidemia is an autosomal-recessive inborn error of branched-chain amino acid metabolism. It is caused by deficient activity of propionyl-coenzyme A carboxylase and is characterized by a spectrum of clinical and biochemical findings. It usually manifests in the neonatal period or early infancy. Since Childs et al first described the propionic acidemia of infants in 1961, it has rarely been reported. There have been no previous report of this organic acidemia in Korea. We present a case of propionic acidemia in a 4-day old male, who had poor feeding, dehydration, and hyperammonemia and died at 12 days of age. Diagnosis was established by gas chromatography and mass spectrometry, and this case is the first reported propionic acidemia in literature in Korea. A review of the related literature was included.
Child ; Chromatography, Gas ; Dehydration ; Diagnosis ; Diethylpropion* ; Humans ; Hyperammonemia ; Infant ; Korea ; Male ; Mass Spectrometry ; Metabolism ; Methylmalonyl-CoA Decarboxylase ; Propionic Acidemia*

BACKGROUND: Most of all studies about the relation between the health risk and obesity are based on the European and American data. The purpose of this study is to examine the relation between adiposity and risk factors for cardio vacular disease (CVD) in normal weight individuals. MATERIALS AND METHODS: Normal weight subjects with a body mass index (BMI) between 18.5 and 23 kg/m2 (76 subjects) and overweight subjects with a BMI between 23 and 25 kg/m2 (53 subjects) were retained for this study. Normal weight subjects were divided into three group of each adiposity variable, then three group and the overweight group were evaluated for the presence of CVD risk factors and analyze the correlation coefficients between adiposity variables and risk factors controlled for age in normal weight, overweight groups. Using logistic regression analysis, the odds ratio (OR) for the prevalence of risk factors for each group of adiposity variables and the overweight group was estimated relative to the first group in normal weight subjects. RESULTS: Systolic BP, diastolic BP, LDL cholestrol, HDL cholesterol, triglycerides in normal weight subjects were significantly correlated with all adiposity variables (P<0.01). Third group (3.7 for %fat and 4.7 for fat mass)of adiposity variables in the normal weight group and the overweight group (6.6 for %fat and 11.5 for fat mass) tended to have higher ORs compared to first group for risk factor variables. CONCLUSION: Normal weight subjects with elevated adiposity had higher prevalence of risk factors than normal weights subjects with less adiposity. Measuring of adiposity added additional information of cardiovascular disease risk factors in normal weight subjects.
Adiposity* ; Body Mass Index ; Cardiovascular Diseases ; Cholesterol, HDL ; Humans ; Ideal Body Weight* ; Logistic Models ; Male* ; Obesity ; Odds Ratio ; Overweight ; Prevalence ; Risk Factors* ; Triglycerides ; Weights and Measures

BACKGROUND: Body weight is an important factor that influence the bone density in postmenopausal women except estrogen dificiency. However, different results are reported about the relationship between body composition and bone density in the postmenopausal women. We have studied the relationship between age, body weight, body mass index (BMI), waist hip ratio (WHR), muscle mass, fat mass, fat free mass and bone density. MATERIALS AND METHODS: We have studied 127 persons of postmenopausal women who visited university medical center and examined the inbody 3.0 and Dual Energy X-ray Absorptiometry (DEXA) from Jan, 2001 to Jun, 2002. they didn't have any disease and didn't received hormone therapy, osteoporosis therapy or other medication that influence the bone density. RESULTS: The numbers of study subjects is total 127 persons. Mean age is 56.9+/-5.14, mean weight is 59.3+/-8.7 kg, mean BMI is 25.37+/-3.16 (kg/m2), mean fat mass is 20.02+/-5.05 kg, mean muscle mass is 37.49+/-4.50 kg, mean fat free mass is 39.80+/-4.70, mean BMD is 0.828+/-0.148 (g/cm2). In the result of linear regression analysis, age, height, weight, muscle mass, fat free mass, fat mass, BMI are significant determinants of BMD. In stepwise multiple regression analysis, age is the most significant determinant of BMD and besides age, fat free mass is the most significant determinant of BMD among body composition. CONCLUSION: In postmenopausal women, age, height, weight, BMI, muscle mass, fat free mass, fat mass are significant determinants of BMD and besides age, fat free mass is the most significant determinant of BMD among the body composition. So, diet and exercise that increase fat free mass will contribute to bone density increment.
Absorptiometry, Photon ; Academic Medical Centers ; Body Composition* ; Body Mass Index ; Body Weight ; Bone Density* ; Diet ; Estrogens ; Female ; Humans ; Linear Models ; Osteoporosis ; Waist-Hip Ratio

This study was done to characterize the natural course of C-peptide levels in patients with type 1 diabetes and identify distinguishing characters among patients with lower rates of C-peptide decline. A sample of 95 children with type 1 diabetes was analyzed to retrospectively track serum levels of C-peptide, HbA1c, weight, BMI, and diabetic complications for the 15 yr after diagnosis. The clinical characteristics were compared between the patients with low and high C-peptide levels, respectively. The average C-peptide level among all patients was significantly reduced five years after diagnosis (P < 0.001). The incidence of diabetic ketoacidosis was significantly lower among the patients with high levels of C-peptide (P = 0.038). The body weight and BMI standard deviation scores (SDS) 15 yr after diagnosis were significantly higher among the patients with low C-peptide levels (weight SDS, P = 0.012; BMI SDS, P = 0.044). In conclusion, C-peptide level was significantly decreased after 5 yr from diagnosis. Type 1 diabetes patients whose beta-cell functions were preserved might have low incidence of diabetic ketoacidosis. The declines of C-peptide level after diagnosis in type 1 diabetes may be associated with changes of body weight and BMI.
Adolescent ; Body Mass Index ; Body Weight ; C-Peptide/*blood ; Child ; Child, Preschool ; Diabetes Complications ; Diabetes Mellitus, Type 1/blood/*diagnosis ; Diabetic Ketoacidosis/epidemiology ; Diabetic Retinopathy/epidemiology ; Female ; Follow-Up Studies ; Hemoglobin A, Glycosylated/analysis ; Humans ; Incidence ; Infant ; Male ; Peripheral Nervous System Diseases/epidemiology ; Retrospective Studies

PURPOSE: This study was performed to investigate the present condition of drug abuse and its association with depression, self-rated health and health behaviors by job status in Korean adults. METHODS: Data were derived from the study on four addiction problem and suicide in 2014. Multiple logistic regression was used to analyze patterns of drug abuse according to depression, self-rated health and health behaviors. RESULTS: The prevalence of drug abuse during the past year was 17.1% of the 4,018 subjects. About 3.3 times risk for drug abuse was found among individuals who had high depression scores. The risk of drug abuse was higher among those who were smoking (OR:1.46, 95% CI:1.17~1.83), drinking more frequently (OR:1.30, 95% CI:1.07~1.58), sleeping insufficiently (OR:1.31, 95% CI:1.03~1.67), eating irregularly (OR:1.45, 95% CI:1.19~1.76). Drug abuse problem was detected more seriously among employed than unemployed adults. CONCLUSION: Health-related behaviors, such as smoking, drinking, sleeping, eating should be considered simultaneously when designing strategies to deal with drug abuse problem, and it is important to understand the interaction between drug abuse and mental health. Furthermore, workplace based intervention can be effective in solving drug abuse problem.
Adult ; Depression* ; Drinking ; Eating ; Health Behavior* ; Humans ; Logistic Models ; Mental Health ; Prevalence ; Smoke ; Smoking ; Substance-Related Disorders* ; Suicide

We present a patient who complained of excessive daytime sleepiness (EDS), which started three years ago. She had no other medical, neurological, and psychiatric disorders. Nocturnal polysomnography did not indicate any sleep disorders, which might cause daytime EDS, such as obstructive sleep apnea. The following multiple sleep latency test was not compatible for narcolepsy. Her laboratory findings were remarkable for subclinical hypothyroidism, although free T4 and T3 were within reference rage, she had elevated thyroid stimulating hormone. After four weeks of levothyroxine treatment, her EDS resolved. The hypersomnolence, as a presenting symptom of subclinical hypothyroidism, was optimally treated after thyroid hormone replacement.
Disorders of Excessive Somnolence* ; Humans ; Hypothyroidism* ; Narcolepsy ; Polysomnography ; Rage ; Sleep Apnea, Obstructive ; Sleep Wake Disorders ; Thyroid Gland ; Thyrotropin ; Thyroxine*