Validation of fetus aneuploidy in 221 Korean clinical samples using noninvasive chromosome examination: Clinical laboratory improvement amendments-certified noninvasive prenatal test

PURPOSE: We developed and validated a fetal trisomy detection method for use as a noninvasive prenatal test (NIPT) including a Clinical Laboratory Improvement Amendments (CLIA)-certified bioinformatics pipeline on a cloud-based computing system using both Illumina and Life Technology sequencing platforms for 221 Korean clinical samples. We determined the necessary proportions of the fetal fraction in the cell-free DNA (cfDNA) sample for NIPT of trisomies 13, 18, and 21 through a limit of quantification (LOQ) test. MATERIALS AND METHODS: Next-generation sequencing libraries from 221 clinical samples and three positive controls were generated using Illumina and Life Technology chemistries. Sequencing results were uploaded to a cloud and mapped on the human reference genome (GRCh37/hg19) using bioinformatics tools. Based on Z-scores calculated by normalization of the mapped read counts, final aneuploidy reports were automatically generated for fetal aneuploidy determination. RESULTS: We identified in total 29 aneuploid samples, and additional analytical methods performed to confirm the results showed that one of these was a false-positive. The LOQ test showed that the proportion of fetal fraction in the cfDNA sample would affect the interpretation of the aneuploidy results. CONCLUSION: Noninvasive chromosome examination (NICE), a CLIA-certified NIPT with a cloud-based bioinformatics platform, showed unambiguous success in fetus aneuploidy detection.

Anti-Inflammatory Effect of Violapyrones B and C from a Marine-derived Streptomyces sp

Recently, we reported violapyrones B, C, H and I, unusual 3, 4, 6-trisubstituted alpha-pyrone derivatives, from the culture broth of the marine Streptomyces sp. 112CH148. In previous studies, violapyrones have been shown to have antibacterial and antitumor activities. However, the anti-inflammatory effect of violapyrones has not been reported yet. As part of our ongoing study for the discovery of bioactive metabolites from marine microorganisms, we found that violapyrones also have anti-inflammatory activity. In this study, we investigated the effect of violapyrones on LPS-induced inflammatory responses in vitro. Violapyrones B and C did not affect the viability of RAW 264.7 cells at concentrations up to 25 microM. However, violapyrones B and C inhibited the production of NO compared to the LPS-induced control. In addition, violapyrones B and C down-regulated the expression of iNOS protein in LPS-stimulated RAW 264.7 cells. To the best of our knowledge, this is the first report on the anti-inflammatory activity of violapyrones B and C.

Clinical Outcomes in Ischemic Colitis: According to the Colonoscopic Extent and Feature / 대한소화기학회지

BACKGROUND/AIMS: Ischemic colitis (IC) usually occurs in the elderly population and has a various clinical presentations from mild to severe forms. The aim of this study was to investigate the clinical outcomes according to the involved sites and colonoscopic findings in IC. METHODS: We retrospectively analyzed the medical records of 77 patients who had diagnosed with IC between January 2000 and July 2010. The clinical outcomes were compared according to numbers of the involved segments, location and endoscopic findings. RESULTS: Mean age of the patients was 70+/-11 years and male to female ratio was 1:1.26. Hematochezia (67.5%) and abdominal pain (63.6%) were the most common associated symptoms. The colonoscopic examination was performed at mean 4.6+/-3.7 days after the symptom onset. The most common involved segment was the sigmoid colon (72.7%). Duration of fasting, antibiotics therapy, hospital stay and mortality were significantly increased in the patients group with more involved segments (p<0.001, p=0.004, p<0.001, p<0.001, respectively). Duration of antibiotics therapy and hospital stay were significantly longer in the right colon involvement group (p=0.038, p=0.002, respectively). The time taken until the alleviation of symptoms and the white blood cells count were significantly longer and higher in the ulcer or gangrenous group (p=0.001, p=0.022, respectively). CONCLUSIONS: Evaluating the involved sites, the degree and severity of mucosal damage by colonoscopy may be important in predicting the clinical course and prognosis of the patients with IC. Early detection, careful monitoring and prompt treatment are crucial especially in the patients with ulcer or necrosis in colonscopic findings.

A case of probable endotipsitis after transjugular intrahepatic portasystemic shunt / 대한내과학회지

Transjugular intrahepatic portasystemic shunt (TIPS) is a procedure that inserts an expandable metallic stent into the liver parenchyme by transjugular catheterization. During the past decade, TIPS has been accepted as an alternative to the surgical shunt procedure for controlling the complications of portal hypertension and has become more widely performed. Complications of TIPS include encephalopathy, bleeding, deterioration of liver function and infection. Although periprocedual sepsis has been known since the early days of TIPS stenting, infection by the TIPS device itself has only recently been recognized because of its rare occurrence. The definition of endotipsitis makes it possible to classify it into two groups: definite and probable infection. We report a case of probable endotipsitis with relapsing bacteremia after TIPS for uncontrolled varix bleeding. If relapsing bacteremia without any other clearly attributable source occurs in a patient with TIPS, the possibility of endotipsitis is considered.

A Case of Broncho-esophageal Fistula Treated by Histoacryl(R) Injection Therapy / 대한소화기내시경학회지

Broncho-esophageal fistula is a disease of varying etiologies. Spontaneous fistula occurs as a result of malignancy, radiotherapy or inflammatory disease. The majority of fistulas are caused by iatrogenic causes. Treatment of fistula usually consists of surgery and conservative management. Recently, it has been reported that broncho-esophageal fistula can be treated endoscopically using tissue adhesive agent such as Histoacryl(R) and fibrin glue. We report a case of broncho-esophageal fistula as a complication of tuberculosis that was successfully treated by radiological Histoacryl(R) injection therapy with a review of literatures.

Endoscopic Mucosal Resection in Early Gastric Cancer Involving Duodenum / 대한소화기내시경학회지

It is difficult to perform endoscopic mucosal resection (EMR) in case of early gastric cancer involving duodenal bulb. To achieve complete resection, we applied a new METHOD: that is, EMR with an insulation-tipped diathermic knife (IT knife) was peformed by the retroflexion of endoscope in the bulb. This method was tried in 4 patients. For the antral side of the tumor, EMR was done using a needle knife or IT knife. The duodenal side of the tumor was resected by IT knife with the retroflexion of endoscope in the bulb. The complete resection was performed in 2 patients, an incomplete resection in one patient, and the laparoscopic subtotal gastrectomy was performed in the remaining one patient because reconstruction of partitional resection was very difficult and adenocarcinoma was found to involve the muscularis mucosa. We think that EMR with IT knife by endoscopic retroflexion in the bulb is effective for some cases of early gastric cancer involving the duodenal bulb.

The Effects of Olanzapine in the Treatment of Inpatients with Schizophrenia and Other Psychotic Disorders: Efficacy, Safety and Quality of Life / 대한정신약물학회지

OBJECTIVE: This multicenter, open trial with olanzapine was primarily designed to evaluate effects of olanzapine on profiles of efficacy, safety, and subjective quality of life (QoL) in hospitalized patients with schizophrenia or other psychotic disorders. Secondarily, associations of changes in QoL measures with baseline characteristics and changes in efficacy and safety measures were examined. Finally, the optimal dose of olanzapine was investigated with respect to efficacy, safety and QoL profiles. METHODS: A total of 94 inpatients at nine centers in Chungchung and Honam areas of Korea was recruited. The administered dosage of olazapine varied between 5 to 20 mg/day according to each patient's clinical status. Information on socio-demographic and clinical characteristics was collected. A variety of measures on efficacy, safety and QoL was administered at baseline (admission) and at endpoint (discharge). RESULTS: Seventy-three (78%) patients completed the study. Their mean (SD) admission period was 42 (21) days. Olanzapine was effective for reducing overall psychotic symptoms including negative and depressive symptoms. It was safe and generally well tolerated, particularly in extrapyramidal symptoms, although weight gain was substantial (2.6 kg during admission period). Furthermore, it was beneficial for improving QoL. Changes in QoL measures were independently associated with improvement of nighttime sleep. The most favorable dosages of olanzapine were 17.5 or 20 mg/day in terms of efficacy, while were 7.5 or 10 mg/day with respect to safety and QoL. CONCLUSION: Olanzapine was effective and well tolerated in the treatment of inpatients with schizophrenia and other psychotic disorders. Different optimal dosages of olanzapine might be recommended according to the target or goal of treatments.

A Study of Personality Disorders in Alcoholics / 신경정신의학

OBJECTIVES: The purpose of this study was to examine the prevalence of personality disorders among non-alcoholics and hospitalized alcoholics and the extent and nature of the overlap between different axis II disorders. METHODS: Subjects were 87 non-alcoholics in the general population group and 94 alcoholics admitted to psychiatric hospital. Alcohol dependence was diagnosed according to DSM-IV by the MAST, and general group and patients were assessed with the PDQ-4+. RESULTS: In the general population group, 52.3% of non-alcoholics had at least one personality disorder and the average number of personality disorders was 1.23 per person. In the alcohol group, 88.3% of the patients had at least one personality disorder and the average number of personality disorders was 4.26 per patient. CONCLUSION: In our study, there is no single "alcoholic personality" emerged.

A Study of Chronic Posttraumatic Stress Disorder in Physically Injured Patients by Motor Vehicle Accidents: A Prospective Study on Incidence, Pattern of Symptom Changes and Predictors / 신경정신의학

OBJECTIVES: This study aimed to report the incidence of chronic posttraumatic stress disorder (PTSD), to identify psychosocial risk factors posttraumatically affecting the severity of PTSD symptoms, to compare the pattern of symptom changes over time, and to find early self-rated measures for the prediction of chronic PTSD in the patients physically injured by motor vehicle accident. METHOD: One-hundred-and-four motor vehicle victims, who were systematically recruited for the study of Kim et al(1998), were reevaluated through interview and questionnaire after twenty-four months. Clinician Administered PTSD Scale(CAPS), Beck Depression Inventory(BDI), Spiel-berger State Trait Anxiety Inventory(STAI), Impact of Event Scale(IES), questions about socioen-vironmental experiences after accident, and The Ways of Coping Checklist(WCC) were included in follow-up assessment. Of these subjects, 68 victims participated in CAPS interview and only 54 victims finished CAPS Interview, and questionnaire. The subjects with PTSD at initial and follow-up assessment were classified as the chronic PTSD group, subjects who recovered from PTSD at follow-up assessment were classified as the recovered group, and subjects who did not meet criteria for PTSD at initial and follow-up assessment were classified as the non-PTSD group. RESULTS: The prevalence of PTSD in motor vehicle victims was 39.8% in follow-up assessment. Compensation of disabilities, return to previous job and financial difficulty were associated with chronicity and poor psychological adjustment of PTSD. In total group of victims, PTSD symptoms that appeared at initial assessment were improved or disappeared at follow-up assessment. However, avoidance and numbing symptoms significantly increased in chronic PTSD group and "acting or feeling as if event were recurring" and "exaggerated startle response" were not recovered over time in recovered group. Only IES at initial assessment showed significant differences among Non-PTSD, PTSD and recovered group. BDI, STAI-II, active coping and passive coping at follow-up assessment showed significant differences among three groups. IES at initial assessment contributed 18.6% to CAPS variance at follow-up. CONCLUSION: This study showed a high risk of developing PTSD among physically injured victims after motor vehicle accident. Risk factors such as event severity, compensation of disabilities, return to previous job and financial difficulty were identified. High IES score at initial assessment was regarded as major factor affecting chronic PTSD.

A Case of Hereditary Fructose Intolerance / 대한소아신경학회지

Hereditary fructose intolerance (HFI) is a carbohydrate metabolic disease of autosomal recessive inheritance. The basic deficit is deficiency of aldolase B, the enzyme catalyzing catabolism of fructose-1-phosphate, which is found only in intestinal mucosa, liver and kidney. Its main symptoms are abdominal pain, vomiting, hypoglycemia, and severe liver disease following the ingestion of fructose. Neurologic impairment is not typical in HFI, but it can occur in the acute phase of the disease. Neurologic impairment is related to the acute hepatic toxicity of fructose (hypoglycemia, abnormal coagulation, cardiovascular collapse). The 7 year-old German girl admitted because of generalized tonic clonic seizure. She had the first seizure at the age of 2, and was diagnosed as Lennox-Gastaut syndrome. Thereafter, frequent morning and midnight seizures were developed following indigestion of milk, sweety cake and cookies. Her family history was unknown because she was adopted from India at the 4 months of age. She showed developmental delay. After the ingestion of fructose, the patient experienced hypoglycemic episode within 60-90 minutes of the intake. Based on this finding, she was diagnosed as HFI. With fructose free diet, the patient became free of seizure even without the anticonvulsant, and improved in growth and development.

Clincal Trial of Percutaneous Central Vein Catherization Via Great Saphenous Vein

PURPOSE: We performed a comparative study on clinical impacts in the neonatas in the neonatal intensive care unit (NICU), who received vascular access through percutaneous central venous catheterization (PCVC), between one group via vessels of upper extremity, and the other group via the great saphenous vein. METHODS: We evaluated a total of 158 PCVC cases performed in the NICU of Soonchunhyang Chunan Hospital over 1 year 8 months from January, 1997 to September, 1998. The 134 cases of PCVC were performed via veins located on upper extremity and 34 cases of this procedures were performed via veins located on the great saphenous vein. We have compared success rates, clinical characteristics, indwelling time, causes of removal of the catheters, and associated complication between both upper extremity group and the great saphenous vein group retrospectively. RESULTS: There were no significant differences in the mean gestational age, birth weight, weight at the time of insertion between two groups. There were no significant differences in indwelling time between two groups, 20.0+/-12.8 days in upper extremity group, and 13.1+/-4.4 days in great saphenous vein group respectively (P<0.1). The overall success rate of insertions was 94.9% (150/158), the success rate of upper extremity group was 96.3% (129/134) and great saphenous vein group was 87.5% (21/24) and there were no significant differences. The most common site of tip of catheter was right atrium in both groups, that was confirmed by radiologic evaluation after venous access. The common cause of removal of the catheter was elective in both groups. Another secondary common cause of removal was mechanical complication, the rate of which was 17.1% in upper extremity group, 33.3% in great saphenous vein group. CONCLUSION: We found that there were no significant differences on success rate of insertion of central venous catheter between two groups and the rate of removal of catheter from mechanical complication caused by obstruction of it were higher in great saphenous vein group, than upper extremity group in comparison. Accordingly, further study should be performed about handling and management of central venous catheter after catherization via great saphenous vein.

The Preliminary Study of Reliability and Validity on the Korean Version of Personality Disorder Questionnaire-4+ (PDQ-4+) / 신경정신의학

OBJECTIVES: The purpose of this study was to examine the reliability and the validity of the Korean version of Personality Disorder Questionnaire-4+ (PDQ-4+). METHODS: PDQ-4+ was administered to 540 subjects of general population group and 37 subjects of personality disorder group. For measuring concurrent reliability, we tested internal consistency, split-half reliability, test-retest reliability and correlation of item score of subscale and mean of subscale. And also, we performed factor analysis for the evaluation of validity, and t-test to group difference of the total scores between general population group and personality disorder group. RESULTS: In general population group and personality disorder group, internal consistency was above .500 (range of Cronbach alpha: .4007 to .6693) in most of the Personality disorder categories. Split-half reliability was .839 between even and odd items. Test-retest reliability done 2 weeks interval was .868. Item scores of subscales and mean of subscales showed high correlation coefficient. Group difference of the total scores between general population and personality disorder group showed very significant difference (t=9.146, df=76, p=.000). CONCLUSION: The PDQ-4+ shows a reasonable degree of reliability and validity and could be a valuable tool in screening for overall personality disturbances.

A Reliability and Validity Study of A Clinician-Administered PTSD Scale / 신경정신의학

OBJECTIVES: The purpose of this study was to examine the reliability and validity of A ClinicianAdministered PTSD Scale(CAPS). METHODS: CAPS was administered to 28 PTSD subjects, 30 non-PTSD subjects, and 36 normal subjects. Interrater reliability for the CAPS was established by interviewing 10 PTSD subjects. The interviews were conducted by 2 interviewers simultaneously. The authors adminstered to all the subjects Impact of Event Scale(IES), Beck Depression Inventory(BDI), State Trait Anxiety Inventory I, II (STAI-I, II) for measuring concurrent validity. RESULTS: The value of Cronbach's alpha and interrater agreement were .95 and .89, respectively. The CAPS was highly correlated with IES(r=.80), BDI(r=.70), STAI-II(r=.56). But the CAPS was not correlated with STAI-I(r=.20). The CAPS showed an overall agreement with clinical diagnosis of 82.1%. CONCLUSIONS: The CAPS shows a reasonable degree of reliability and validity. The CAPS could be a valuable tool to diagnose PTSD.

Histopathologic study on the Toxicity of Cytolysin Produced by Vibrio vulnificus / 대한해부학회지

Vibrio vulnificus is an estuarine bacterium which causes septicemia and serious wound infection. But the pathogenesis of Vibrio vulnificus infection is unknown. Among the exotoxins secreted by Vibrio vulnificus, cytolysin has been incriminated as one of the potent virulence determinants. In order to clarify the toxicity of cytolysin in mice, the morphological changes of various organs after the intravenous injection of cytolysin were observed. The pathological changes of mouse due to a single intravenous injection of Vibrio vulnificus cytolysin (8 hemolytic units) were as follows : Blood volume was decreased, and pleural effusion, vascular permeability of lungs, wet weight and volume of lungs were increased. And cytolysin was lead to patchy hemorrhage of pulmonary surface. The microscopic findings of mouse lung in experimental group were characterized by (1) extensive perivascular edema; (2) accumulation of intraalveolar fluid with electron dense particles; (3) narrowing of alveolar space; (4) leukocyte infiltration in perivascular and intraalveolar space; (5) vasodilatation of capillary; (6) damaged capillary endothelial cells and alveolar epithelial cells; (7) interstitial edema of interalveolar septa; (8) disorganization of collagen bundles. These results indicate that the lung may be an important target organ of cytolysin in the pathologenesis and lethal activity of Vibrio vulnificus infections.

Posttraumatic Stress Disorder in Physically Injured Patients after Motor Vehicle Accidents / 신경정신의학

OBJECTIVES: The authors attempted to estimate the incidence of posttraumatic stress disorder (PTSD) and the differences of sociodemographical features, injury severity, depression and anxiety between PTSD and non-PTSD groups artier motor vehicle accident. METHODS: The subjects were 104 patients who had undergone motor vehicle accidents, and been hospitalized to orthopedic surgery hospitals. We administered them clinician-administered PTSD scale(CAPS) for diagnosing PTSD, injury severity scale(ISS) for identifying their physical injury, self-reported questionnaire made to identify socioepidmogrphic data, Beck Depression Inventory(BDI) for measuring depression, and State Trait Anxiety Inventory I, II(STAI- I, II)for measuring anxiety. RESULTS: The incidence of PTSD in subjects was 61.5%. Most of sociodemogrphic factors were not different between PTSD and non-PTSD groups. Only there were signigicant differences between PTSD group and non-PTSD group on the cases that observed the dead or the wounded at the scene of motor vehicle accident( chi2=8.478, p<0.05) and BDI(t=5.03, p<0.05). CONCLUSION: These results indicate that prevalence of PTSD is higher after motor vehicle accident and both of the two groups report much higher depression and anxiety than normal population. In addition, the results of this study show that the observation of dead or wounded at accident situation can be of risk factors to precipitatae PTSD.

Life Events, Coping Styles, Social Support, and Family Relationships of Middle-Aged Depressed Women / 신경정신의학

The objective of this study was to explore the psychosocial factors such as life events, coping styles and family relationships in middle-aged depressed women. This study was designed to compare how different variables relate to depression in two different test groups: a depressed patient group and a normal group. The Beck Depression Inventory(BDI), The Ways of Coping Checklist, Interpersonal Support Evaluation List(ISEL), Family Environment Scale were administered to 116 depressed patients and 113 normal persons between the ages of 35 and 64. The results were as follows 1) The highest stress was marital stress(n=42, 36.2%) in patient group and family stress(n=44, 38.9%) in normal group, respectively. 2) There were significant differences between patient group and normal group in BDI scores (t=15.94, p<.0001), lift events(t=4.73, p<.0001), active coping(t=6.29, p<.0001), social support(t=7.20, p<.0001), and family relationship(t=5.75, p<.0001) except for passive coping(t=0.93, p=.35). 3) In depressed patient group, BDI scores had a significantly positive correlation with the scores of the life event(r=.24, p<.01) and negative correlation with active coping(r= -.22, p<01), social support(r=-.35, p<.001) and family relationships(r=-.30, p<.001). 4) In depressed patient group, multiple regression analysis showed that social support(12.3%, beta=-.281, T=-3.162, P=.002), lift events(5.1%, beta=.279, T=3.195, F=.002), and active coping(3.5%, beta=-.204, T=-2.225, F=.028) had predictability on the BDI scores and the total predictability was 20.9%. 5) Stress experienced in family relationships were highest in life events and there was a lack of consistency(in the BDI scores ol the coping styles). Social support was the most important factor and there were no significant differences between the two groups in family relationships.

A study of cold agglutinin titer in schizophrenia / 신경정신의학

No abstract available.

A Statistical Observation of Industrial Eye Injuries

The 362 industrial eye injuries among the 14374 out-patient who visited to Dept. of Ophthalmology, Wonju Christian Hospital, Yonsei University, College of Medicine from Jan. 1975 to Dec. 1980 were statistically evaluated. 1. Industrial eye injuries occupied 2.52% of all eye injuries. 2. The majority of industrial eye injuries was due to flying particles including dust and stones(28.04%), explosives(24.66%) which resulted in corneal foreign bodies(10.27%). 3. The final visual acuity of 82 eyes(21.98%) was 20/400 or less. And 36 eyes(9.65%) were absolutIy blinded. 4. The trade-distribution of industrial eye injuries was as follows; Stope mm(36.82%), Assistant(11.15%), Miscellaneous service (7.09%), 38.53% of industrial eye injuries of Stope men was injured by explosives.