Infective endocarditis by Hemophilus species is very rare:there are only 22 reported-cases of Hemophilus paraphrophilus endocarditis. We report a case of Hemophilus paraphrophilus endocarditis in a middle-aged woman with cerebral embolism and hemorrhage.
Endocarditis* ; Female ; Haemophilus ; Haemophilus paraphrophilus* ; Hemorrhage* ; Humans ; Intracranial Embolism*

OBJECTIVES: The relationship between substance dependence and poor decision making has received much attention in recent years. This study aimed to test the hypothesis that alcohol dependent subjects would demonstrate a more perseverative decision-making pattern, during ambiguous situations. METHODS: 15 alcohol dependent patients and 15 healthy normal controls performed a novel computerized decision-making task, which presented figures of coins. The subjects were instructed to guess whether the total number of coins was 'odd' or 'even'. Besides these two response, one could select a third alternative - 'pass' - in case the chances were assumed to be low. RESULTS: There was significant difference in performance between the two groups (F=4.339, p=0.008). The control group gained 15.4+/-14.4 points, whereas the alcohol dependent group lost 0.6+/-5.3 points. The normal control group demonstrated a tendency to make more pass responses as the trials were repeated. In contrast, the alcohol dependent group didn't make use of the alternative, but kept challenging between 'odd' and 'even', although they sensed that the chances were low. CONCLUSION: The alcohol dependent patients demonstrated a more rigid and perseverative response pattern and showed deficits in making use of compromise alternatives.
Alcoholism ; Decision Making ; Humans ; Numismatics ; Substance-Related Disorders

OBJECTIVE: This study was conducted to assess the interaction between alcohol cues and social pressure in the induction of alcohol craving. METHODS: Fourteen male patients with alcohol dependence and 14 age-matched social drinkers completed a virtual reality coping skill training program composed of four blocks according to the presence of alcohol cues (x2) and social pressure (x2). Before and after each block, the craving levels were measured using a visual analogue scale. RESULTS: Patients with alcohol dependence reported extremely high levels of craving immediately upon exposure to a virtual environment with alcohol cues, regardless of social pressure. In contrast, the craving levels of social drinkers were influenced by social pressure from virtual avatars. CONCLUSION: Our findings imply that an alcohol cue-laden environment should interfere with the ability to use coping skills against social pressure in real-life situations.
Adaptation, Psychological* ; Alcoholism* ; Cues ; Education ; Humans ; Male

OBJECTIVES: Paraoxonase is a high density lipoprotein (HDL)-associated enzyme, which has been implicated in preventing low density lipoprotein-cholesterol (LDL-C) from oxidation. The human paraoxonase gene is codominantly expressed as allele A and B. The A allele codes for glutamine (A subtype) and the B allele for arginine (B subtype) at codon 192 of the paraoxonase enzyme. This genetic polymorphism divides the enzyme into high and low activity form. It has been believed that this difference of specific activity might change the metabolism of cholesterol and the prevalence of coronary artery disease. The present study investigated the association among the paraoxonase gene polymorphism and the level of plasma lipoprotein and coronary artery disease. METHODS: The 416 subjects who have undergone coronary angiography in SNUH were recruited. The patients (n=251) had >50% stenosis of at least one of the major coronary arteries. To identify the genotype of paraoxonase, we amplified the target region in the paraoxonase gene by PCR ( polymerase chain reaction) and electrophoresed the products. RESULTS: There was no difference between the two groups in the allele frequency (A : B = 0.41 : 0.59 in patients, A : B = 0.37 : 0.63 in controls; p=0.21) or in the genotype frequency (AA:AB:BB= 45:116:90 in patients, AA:AB:BB=22:77:66 in controls; p=0.41). There was no association of the paraoxonase genotype with serum lipoprotein level and acute coronary syndrome in this study. The B allele was not an independent risk factor for coronary artery disease in this study. CONCLUSION: The paraoxonase gene 192 polymorphism was not an independent risk factor for coronary artery disease in this study.
Acute Coronary Syndrome ; Alleles ; Arginine ; Aryldialkylphosphatase* ; Cholesterol ; Codon ; Constriction, Pathologic ; Coronary Angiography ; Coronary Artery Disease* ; Coronary Vessels* ; Gene Frequency ; Genotype ; Glutamine ; Humans ; Lipoproteins ; Metabolism ; Plasma ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Prevalence ; Risk Factors

Background/Aims: We evaluated the efficacy and safety of denosumab treatment in severe chronic kidney disease (CKD) patients with osteoporosis. We also investigated whether the treatment affects the coronary artery calcifications. Methods: Twenty-seven postmenopausal women with Stage 3b–4 CKD and osteoporosis were enrolled. Twenty patients received denosumab plus calcium carbonate and vitamin D, and seven controls received calcium carbonate and vitamin D for 1 year. Dual-energy X-ray absorptiometry and coronary artery calcium (CAC) scoring computed tomography were performed before and after treatment. Hypocalcemic symptoms and serum calcium levels were evaluated. Results: After 1 year of treatment, the percent changes of femur neck (3.6 ± 3.2% vs. -0.7 ± 4.4%, p = 0.033) and total hip (3.4 ± 3.8% vs. -1.9 ± 2.1%, p = 0.001) bone mineral density (BMD) were significantly increased in the denosumab treated group compared to the control group. However, the percent change of lumbar spine BMD did not differ between two groups (5.6 ± 5.9% vs. 2.7 ± 3.9%, p = 0.273). The percent change of bone alkaline phosphatase was significantly different in the denosumab-treated group and control group (-31.1 ± 30.0% vs. 0.5 ± 32.0%, p = 0.027). CAC scores did not differ between groups. No hypocalcemic events occurred in both groups. Conclusions If carefully monitored and supplemented with calcium and vitamin D, denosumab treatment for 1 year provides significant benefits in patients with Stage 3b–4 CKD and osteoporosis. However, denosumab treatment did not affect coronary artery calcifications in these patients.

Sarcopenia, the age-related decline in muscle mass, affects the muscle strength and muscle quality, and these changes decrease functional capacity. The prevalence of thyroid dysfunction increases with age, and changes in thyroid hormone level lead to neuromuscular deficits. We investigated the effects of subclinical hypothyroidism on the muscle mass, strength or quality in elderly people. One thousand one hundred eighteen subjects aged > or =65 yr were randomly selected from a local population and classified into a euthyroid (280 men and 358 women), subclinically hypothyroid (61 men and 75 women), or overtly hypothyroid (7 men and 16 women) group. Although women with subclinical hypothyroidism had a higher prevalence of sarcopenia, defined according to the ratio of appendicular skeletal muscle mass to the square of height, muscle mass, strength or quality did not differ in relation to thyroid status in men or in women. Multivariate analysis including age, diabetes, hypertension, acute coronary event, alcohol, smoking, presence of pain, physical activity score, and lipid profile, showed that thyroid-stimulating hormone level was not associated with muscle mass, strength or quality. In conclusion, subclinical hypothyroidism has little influences on muscle mass, strength or quality, and may not be associated with sarcopenia.
Age Factors ; Aged ; Aged, 80 and over ; Diabetes Mellitus/etiology ; Exercise ; Female ; Humans ; Hypertension/etiology ; Hypothyroidism/*complications ; Male ; Muscle Strength/*physiology ; Muscle, Skeletal/*physiology ; Questionnaires ; Sarcopenia/complications/*epidemiology ; Smoking

PURPOSE: Endothelial progenitor cells (EPCs), which mediates neovascularization of uterine endometrium may be involved in the neovascularization in the utero-placental circulation. Low numbers of endothelial progenitor colony-forming unit (CFU) in culture are predictive biomarker of vascular disease. The aim of the present study was to evaluate whether the number of CFU in preeclampsia differed from that in normal pregnancy. MATERIALS AND METHODS: Women with singleton normal (n=26) or preeclamptic (n=20) pregnancies were studied during the third trimester. The number of EPCs was quantified by CFU methodology. Plasma levels of angiogenic factors, vascular endothelial growth factor (VEGF), soluble fms-like tyrosine kinase-1 (sFlt-1), and placental growth factor (PlGF) were determined by enzyme-linked immunoassay. RESULTS: CFU numbers were significantly decreased in the preeclamptic patients compared with the controls (median, 3; range 1-12 vs. 31; 3-81 CFU/well, P<0.001). A majority of the cells comprising individual colonies were positive for endothelial characteristics (Ulex europaeus lectin staining and acetylated low-density lipoprotein uptake). Plasma levels of the sFlt-1 were highly elevated (P<0.001) in patient with preeclampsia compared to controls, whereas PlGF were highly reduced (P=0.004), but these factors did not associate with CFU numbers. CONCLUSION: Our results suggest that reduced numbers of CFU obtained from maternal peripheral blood may contribute to the development of preeclampsia.
Angiogenesis Inducing Agents ; Endometrium ; Female ; Humans ; Lipoproteins ; Plasma ; Pre-Eclampsia ; Pregnancy ; Pregnancy Trimester, Third ; Stem Cells ; Tyrosine ; Vascular Diseases ; Vascular Endothelial Growth Factor A

Purpose: BRCA1 and BRCA2 are among the most important genes involved in DNA repair via homologous recombination (HR). Germline BRCA1/2 (gBRCA1/2)-related cancers have specific characteristics and treatment options but conducting gBRCA1/2 testing and interpreting the genetic imprint are sometimes complicated. Here, we describe the concordance of gBRCA1/2 derived from a panel of clinical tumor tissues using next-generation sequencing (NGS) and genetic aspects of tumors harboring gBRCA1/2 pathogenic variants. Materials and Methods: Targeted sequencing was performed using available tumor tissue from patients who underwent gBRCA1/2 testing. Comparative genomic analysis was performed according to gBRCA1/2 pathogenicity. Results: A total of 321 patients who underwent gBRCA1/2 testing were screened, and 26 patients with gBRCA1/2 pathogenic (gBRCA1/2p) variants, eight patients with gBRCA1/2 variants of uncertain significance (VUS; gBRCA1/2v), and 43 patients with gBRCA1/2 wild-type (gBRCA1/2w) were included in analysis. Mutations in TP53 (49.4%) and PIK3CA (23.4%) were frequently detected in all samples. The number of single-nucleotide variants (SNVs) per tumor tissue was higher in the gBRCA1/2w group than that in the gBRCA1/2p group (14.81 vs. 18.86, p=0.278). Tumor mutation burden (TMB) was significantly higher in the gBRCA1/2w group than in the gBRCA1/2p group (10.21 vs. 13.47, p=0.017). Except for BRCA1/2, other HR-related genes were frequently mutated in patients with gBRCA1/2w. Conclusion We demonstrated high sensitivity of gBRCA1/2 in tumors analyzed by NGS using a panel of tumor tissues. TMB value and aberration of non-BRCA1/2 HR-related genes differed significantly according to gBRCA1/2 pathogenicity in patients with breast cancer.

PURPOSE: The aim of this study was to asses the fetal loss rate after mid-trimester amniocentesis. MATERIALS AND METHODS: This was a retrospective cohort study including singleton pregnant women who underwent mid-trimester amniocentesis at Cheil General Hospital from January 2008 through December 2010. The procedure-related fetal loss was defined as miscarriage within 2 weeks after amniocentesis. We evaluated the fetal loss rate within 2 weeks after amniocentesis and fetal loss rate before 24 gestational weeks. RESULTS: During the study period, a total of 4,356 singleton pregnant women underwent mid-trimester amniocentesis. A total of Five hundred ninety six women were excluded owing to follow up loss and termination of pregnancy due to abnormal karyotype or major anomaly. At our institute, the fetal loss rate within 2 weeks was 0.1% and before 24 gestational weeks was 0.3% after amniocentesis. CONCLUSION: The fetal loss rate after mid-trimester amniocentesis in our study is lower than previously reported rate. We suggest that amniocentesis is a safe procedure.
Abnormal Karyotype ; Abortion, Spontaneous ; Amniocentesis ; Cohort Studies ; Equidae ; Female ; Follow-Up Studies ; Hospitals, General ; Humans ; Pregnancy ; Pregnant Women ; Retrospective Studies

PURPOSE: Increased maternal age is a major risk factor for chromosomal abnormalities. The maternal age-specific risk of fetal trisomy was theoretically calculated. We investigated the actual frequency of fetal trisomy between 16 and 24 gestational weeks in pregnant women over the age of 34 at delivery. MATERIALS AND METHODS: We retrospectively, over a four-year period, reviewed the medical records of women with singleton pregnancies that started their antenatal care before the 10th week of pregnancy. Pregnant women aged 34 to 45 years at the time of delivery were enrolled and divided into groups of one-year intervals. We investigated the frequency of Down syndrome and all trisomies as a function of the maternal age and compared with the theoretical maternal-age-specific risk. RESULTS: Of the 5,858 pregnant women enrolled in the study, the rate of trisomy 21 was 0.29% (17 cases). The observed frequencies of trisomy 21 in women with maternal ages of 35 years and 40 years were 1:1,116 and 1:141, respectively. The rate of all trisomies was 0.39% (23 cases). The observed frequencies of all trisomies in women with maternal ages of 35 years and 40 years were 1:372 and 1:56, respectively. CONCLUSION: The frequencies of Down syndrome and all trisomies were proportional to the maternal age. However, the observed frequencies of Down syndrome and all trisomies between the 16 and 24 gestational weeks were lower than the theoretical rates.
Chromosome Aberrations ; Down Syndrome ; Epidemiology ; Female ; Humans ; Maternal Age ; Medical Records ; Pregnancy ; Pregnant Women* ; Retrospective Studies ; Risk Factors ; Trisomy*