Whole genome sequencing (WGS)-based noninvasive prenatal test (NIPT) is the first method applied in the clinical setting out of various NIPT techniques. Several companies, such as Sequenom, BGI, and Illumina offer WGS-based NIPT, each with different technical and bioinformatic approaches. Sequenom, BGI, and Illumina utilize z-, t-, and L-scores, as well as normalized chromosome values, respectively, for trisomy detection. Their outstanding performance has been demonstrated in clinical studies of more than 100,000 pregnancies. The sensitivity and specificity for detection of trisomies 13, 18, and 21 were above 98%, as reported by all three companies. Unlike other techniques, WGS-based NIPT can detect other trisomies as well as clinically significant segmental duplications/deletions within a chromosome, which could expand the scope of NIPT. Incorrect results could be due to low fetal fraction, fetoplacental mosaicism, confined placental mosaicism or maternal copy number variation (CNV). Among those, maternal CNV is a significant contributor of false positive results and therefore genome wide scanning plays an important role in preventing the occurrence of false positives. In this article, the bioinformatic techniques and clinical performance of three major companies are comprehensively reviewed.
Down Syndrome ; Genome* ; Mosaicism ; Pregnancy ; Sensitivity and Specificity ; Trisomy

OBJECTIVES: The length ratio of the second to the fourth finger (2D : 4D) is a known indirect measure of prenatal sex hormone exposure. Sex hormones influence brain development through structural and epigenetic modifications of neurons. We examined the 2D : 4D in schizophrenia patients and normal controls to investigate the relationship between prenatal sex hormone exposure and the genesis of schizophrenia. METHODS: The participants were 187 schizophrenia patients (94 male, 93 female) and 190 normal controls (95 male, 95 female). We determined handedness via the Edinburgh Handedness Inventory and age of onset of schizophrenia via clinical records or directly questioning the patients. We measure digit length using vernier caliper and performed T-tests, ANOVA, and ANCOVA to analyze the data. RESULTS: There were no significant 2D : 4D differences between schizophrenic participants and normal controls. Also, there was no significant correlation between the 2D : 4D and the age of onset of schizophrenia. Among the controls, the 2D : 4D was significantly higher (more "feminized") in females than in males (F=4.937, p=.027). But, there were no significant 2D : 4D sex differences among the schizophrenia patients (F=3.429, p=.066). CONCLUSION: These results imply that sex hormone changes during fetal development might play some role in the development of schizophrenia.
Age of Onset ; Brain ; Epigenomics ; Female ; Fetal Development ; Fingers ; Functional Laterality ; Gonadal Steroid Hormones ; Humans ; Male ; Neurons ; Schizophrenia ; Sex Characteristics

Background: The association between serum cholesterol levels and depression has been studied extensively; however, results are inconsistent. This study aimed to investigate the association between low-density lipoprotein cholesterol (LDL-C) levels and depressive symptoms among Korean adults. Methods: This cross-sectional study used data obtained from the 2007–2015 Korea National Health and Nutrition Examination Survey. In total, 40,904 adults were included in the final analysis. Participants were categorized into five groups according to their LDL-C levels, using the Korean guidelines for dyslipidemia. Symptoms of depression were evaluated using a self-reported questionnaire. Weighted logistic regression was used to examine the relationship between LDL-C levels and self-reported depressive symptoms. Results: Compared with the intermediate category, the lowest (<70 mg/dL) and highest (≥160 mg/dL) LDL-C categories were associated with depressive symptoms, after adjusting for potential confounding factors (odds ratio [OR], 1.191; 95% confidence interval [CI], 1.008–1.409; OR, 1.241; 95% CI, 1.073–1.435, respectively). The highest LDL-C category was positively associated with depressive symptoms in those who were middle-aged, female, had a low body mass index, and taking or not taking dyslipidemia medications. Conclusion A U-shaped association was identified between LDL-C categories and self-reported depressive symptoms. Our findings suggest that LDL-C levels that are too low or too high are associated with self-reported depressive symptoms. Further prospective studies are needed to determine the causal relationship of this association.

Objectives: The purpose of this study was to compare the demographic, clinical, and criminal characteristics and legal judgments of criminal cases, in which psychiatric evaluation was requested, and to identify factors affecting criminal responsibility judgments. Methods: The medical records of 100 subjects that committed crimes and the judgment records of 51 subjects admitted to Yongin Mental Hospital from February 2005 to February 2021 were analyzed retrospectively. Psychiatric disorder groups were compared with respect to demographic, clinical, criminal characteristics, and legal judgments. Factors affecting criminal responsibility judgments were identified by comparing legal judgment groups. Results: Psychiatric history, criminal motivation, and criminal history differed significantly between psychiatric disorder groups. Differences between the opinions of the appraiser and courts regarding criminal responsibility were significantly dependent on psychiatric disorder type, and there was a consistent tendency according to the psychiatric disorders, but there was a difference of opinion between the two groups. Conclusion The findings of the current study suggest psychiatric diagnoses and symptoms such as psychotic symptoms and cognitive impairments that provoke crime can influence criminal responsibility judgments.

Purpose: To analyze trends in mortality rates from hemorrhagic stroke (HS) according to HS subtypes, using nationwide data from January 2012 to December 2020. Materials and Methods: We used data from the National Health Claims Database provided by the National Health Insurance Service for 2012–2020 using the International Classification of Disease. The age-adjusted mortality rates of HS, which included subarachnoid hemorrhage (SAH) and intracerebral hemorrhage (ICH), were calculated, and additional analyses were conducted according to age and sex. Results: The age-adjusted mortality rates for HS, SAH, and ICH decreased substantially in both sexes between 2012 and 2020. During the study period, mortality rates for HS decreased from 8.87 deaths per 100,000 inhabitants to 6.27 deaths per 100,000 inhabitants. Regarding SAH, mortality rates decreased from 3.72 deaths per 100,000 inhabitants to 2.57 deaths per 100,000 inhabitants. Concerning ICH, mortality rates decreased from 6.91 deaths per 100,000 inhabitants to 4.75 deaths per 100,000 inhabitants. The average annual percentage change for HS, SAH, and ICH was –0.04, –0.04, and –0.05, respectively. Mortality rates from HS, SAH, and ICH in both sexes decreased from 2012 to 2020 in all age groups. Conclusion In Korea, the age-adjusted mortality rate of HS, SAH, and ICH demonstrated a declining trend in both sexes and across all age groups. These results may aid in the design and improvement of preventive strategies.

OBJECTIVES: The objective of this study is to assess the prevalence and risk factors of metabolic syndrome (MS) among inpatients with schizophrenia, and to compare with general population. METHODS: Nine hundreds seventy inpatients were included to assess the prevalence of MS from two mental hospitals in Yong-in city. Assessment of MS was performed based on modified American Heart Association criteria with abdominal obesity threshold of 90cm for men, 85cm for women. Comparative analysis was performed using age- and gender matched sample from Korea Health and Nutritional Examination Survey III. For evaluating risk factors, analysis included 766 inpatients taking consistent medications at least for 30 days. RESULTS: The prevalence of MS of inpatients with schizophrenia was 26.2%, in females it was 33.2%, compared to 20.2% in males(p < 0.001). Compared to general population, the prevalence of MS was significantly lower in male and higher in female patients. In terms of criteria prevalence, who met abdominal circumference criterion were more prevalent in patient group(p < 0.001). After multivariate analysis, female gender and old age remained as risk factors of MS. CONCLUSIONS: The prevalence of MS of inpatients with schizophrenia was 26.2% and significantly low compared to general population. Female gender and old age were risk factors of MS.
American Heart Association ; Female ; Hospitals, Psychiatric ; Humans ; Inpatients ; Korea ; Male ; Multivariate Analysis ; Obesity, Abdominal ; Prevalence ; Risk Factors ; Schizophrenia

OBJECTIVES: The aims of this study are to estimate the prevalence of polydipsia and water intoxication and to identify risk factors of polydipsia and water intoxication in psychiatric inpatient. METHODS: 1,108 Psychiatric inpatients at 2 mental hospitals in Yongin city were studied from September, 2008 to January, 2009. We diagnosed'polydipsia' using staff reports(fluid intake>3L/day) or by specific gravity of urine(SPGU<1.008) and diagnosed'at risk for water intoxication' using normalized diurnal weight gain (NDWG>4%). We attempted to identify clinical characteristics of patients by reviewing their medical records. RESULTS: Two hundred forty seven patients(22.3%) were polydipsic. Sixty eight patients(6.1%) were at risk for water intoxication. The factors associated with polydipsia were lithium, smoking, younger age and increased smoking amounts. The factors associated with risk for water intoxication were valproic acid and polydipsia. CONCLUSION: Polydipsia and water intoxication in psychiatric inpatients are not rare conditions. Therefore, clinicians' attention should be paid to these conditions.
Hospitals, Psychiatric ; Humans ; Inpatients ; Lithium ; Polydipsia ; Prevalence ; Risk Factors ; Smoke ; Smoking ; Specific Gravity ; Valproic Acid ; Water Intoxication ; Weight Gain

BACKGROUND: The Seoul Verbal Learning Test (SVLT) is a relatively brief test of verbal learning and memory, which is used to examine dementia patients when a more comprehensive memory assessment is not feasible or when serial testing is desired. The aim of this study was to investigate the pattern of the SVLT performance and its usefulness in making a differential diagnosis between Alzheimer's disease (AD) and subcortical vascular dementia (SVD). METHODS: The SVLT was administered to 15 younger controls, 12 elderly controls, 84 probable AD and 53 SVD patients who met the DSM-IV criteria for dementia. In order to determine the difference of the SVLT parameters between AD and SVD according to the disease severity, the subjects were first grouped into mild dementia (CDR 1 or less) and advanced dementia (CDR2), then the parameters were compared. RESULTS: Pattern analysis of the SVLT performance in subjects with AD and SVD revealed that the mild AD subjects recalled fewer words in trial 2, had a lower discrimination index, a lower combination memory score and more recognition of semantically-unrelated distracter items. In advanced cases, with the exception of combination memory score, there were no differences between the groups in terms of the overall learning or the discrimination index. CONCLUSIONS: Although SVLT has limited differential diagnostic value in advanced cases, in mild cases, pattern analysis of the SVLT performance is a useful tool for discriminating mild AD from SVD. Therefore, a further clinical study should be promising.
Aged ; Alzheimer Disease* ; Dementia ; Dementia, Vascular* ; Diagnosis, Differential* ; Diagnostic and Statistical Manual of Mental Disorders ; Discrimination (Psychology) ; Humans ; Learning ; Memory ; Seoul* ; Verbal Learning*

OBJECTIVES: In this study, we examined the reliability and validity of the Korean version of the Toronto Mindfulness Scale (K-TMS), a brief self-report measure to assess state mindfulness. METHODS: We administered the K-TMS, Beck Depression Inventory, Experiences Questionnaire (K-EQ), Mindfulness Attention Awareness Scale (MAAS), Positive Affect and Negative Affect Schedule (PANAS), and Rumination-Reflection Questionnaire (RRQ) to 205 university students and conducted exploratory factor analyses (EFA), confirmatory factor analyses, and correlation analyses among the related variables. RESULTS: The K-TMS demonstrated high internal consistency, and its corrected item-total correlations ranged from .37 to .73. Exploratory factor analyses resulted in a two-factor solution (curiosity, de-centering), based on an examination of the scree plot and eigenvalues, which was structurally similar to the original TMS scale. Confirmatory factor analyses indicated that a correlated 2-factor model, with correlated error terms, showed an adequate fit to the data. The K-TMS was positively correlated with de-centering (r=.304, p<.01), as measured by the EQ, with reflective self-awareness (r=.334, p<.01), as assessed by the K-RRQ, and with positive affect (r=.302, p<.01), as assessed by he PANAS. There were no significant relationships between the K-TMS and depression, and the correlation between the K-TMS and the MAAS was not significant. CONCLUSION: These results show the K-TMS is a promising measure of mindfulness state, with good psychometric properties. Further study of the relationship between the K-TMS and mental health is needed.
Appointments and Schedules ; Depression ; Humans ; Mental Health ; Psychometrics ; Surveys and Questionnaires ; Reproducibility of Results

Non-alcoholic fatty liver disease (NAFLD) is the most common cause of chronic liver disease worldwide, and non-alcoholic steatohepatitis (NASH), a subtype of NAFLD, can progress to cirrhosis, hepatocellular carcinoma, and death. Nevertheless, the current treatment for NAFLD/NASH is limited to lifestyle modifications, and no drugs are currently officially approved as treatments for NASH. Many global pharmaceutical companies are pursuing the development of medications for the treatment of NASH, and results from phase 2 and 3 clinical trials have been published in recent years. Here, we review data from these recent clinical trials and reports on the efficacy of newly developed antidiabetic drugs in NASH treatment.