Although conventional prenatal screening tests for Down syndrome have been developed over the past 20 years, the positive predictive value of these tests is around 5%. Through these tests, many pregnant women have taken invasive tests including chorionic villi sampling and amniocentesis for confirming Down syndrome. Invasive test carries the risk of fetal loss at a low but significant rate. There is a large amount of evidence that non-invasive prenatal test (NIPT) using cell free DNA in maternal serum is more sensitive and specific than conventional maternal serum and/or ultrasound screening. Therefore implementing NIPT will increase aneuploidy detection rate and concurrently decrease fetal loss rate accompanying invasive test. More than 1,000,000 NIPT were performed globally since 2011. The uptake rate of NIPT is expected to increase more rapidly in the future. Moreover, as a molecular genetic technique advances, NIPT can be used for not only common aneuploidy screening but single gene disorder, microdeletion, and whole fetal genome sequencing. In this review, I will focus on the NIPT for common aneuploidies such as trisomy 13, 18, and 21.
Amniocentesis ; Aneuploidy ; Chorionic Villi Sampling ; DNA* ; Down Syndrome ; Female ; Genome ; Humans ; Mass Screening ; Maternal Serum Screening Tests ; Molecular Biology ; Pregnancy ; Pregnant Women ; Prenatal Diagnosis ; Trisomy ; Ultrasonography

Down syndrome screening with cell-free DNA (cfDNA) in the maternal plasma has recently received much attention in the prenatal diagnostic field. Indeed, a large amount of evidence has already accumulated to show that screening tests with cfDNA are more sensitive and specific than conventional maternal serum and/or ultrasound screening. Globally, more than 1,000,000 of these noninvasive prenatal tests (NIPTs) have been performed to date. There are several different methods for NIPTs that are currently commercially available, including shotgun massively parallel sequencing, targeted massively parallel sequencing, and single nucleotide polymorphism (SNP)-based methods. All of these methods have their own advantages and disadvantages. In this review, I will focus specifically on the SNP-based NIPT.
DNA ; Down Syndrome ; High-Throughput Nucleotide Sequencing ; Mass Screening ; Plasma ; Polymorphism, Single Nucleotide ; Prenatal Diagnosis ; Ultrasonography

OBJECTIVES: I reviewed the fundamental knowledge about normal development and common psychiatric illnesses in adolescence to provide with a lecture note for resident training seminar. METHODS: Three textbooks were reviewed and summarized. RESULTS: Adolescence is a bridge period between childhood and adulthood. Through adolescence, the development and achievement of interpersonal relationship, character pattern, learning and occupational capabilities occur. In adolescence, lots of both physical and psychological changes are observed. Also the requirement of social role and duty increased. Because of them, many psychiatric illnesses and adaptive problems are developed and exert negative influences on the quality of life of adolescents and their family. CONCLUSION: Adolescence is important period in human development and many psychiatric disabilities are developed and aggravated in this period.
Achievement ; Adolescent ; Human Development ; Humans ; Learning ; Quality of Life

OBJECTIVES: The purpose of this study was to examine the performance and electrophysiological characteristics of drug-naive children with attention-deficit/hyperactivity disorder (ADHD) during the Go/NoGo task. METHODS: Twenty-three boys with ADHD and 18 age-matched normal boys were recruited at a child psychiatric outpatient clinic in Seoul. All subjects were assessed by the Kiddie Schedules for Affective Disorders and Schizophrenia -Present and Lifetime version. The investigator also assessed all subjects using the ADHD Rating Scale-IV (ADHDRS). Event-related potentials were recorded from 8 scalp electrodes during the visual Go/NoGo task. RESULTS: Children with ADHD showed a larger mean of standard deviation of response time during the Go/NoGo task than normal children. The temporal N200 and P300 amplitudes were larger in children with ADHD relative to controls. The parietal N200 and P300 latencies were more prolonged in children with ADHD compared to normal controls. CONCLUSION: These results suggest that psychotropic-naive children with ADHD may have more variable performance ability, more difficulty in discriminating visual stimuli, and slower information processing speed than their normal agematched counterparts.
Ambulatory Care Facilities ; Appointments and Schedules ; Automatic Data Processing ; Child ; Electrodes ; Evoked Potentials ; Humans ; Mood Disorders ; Neuropsychological Tests ; Reaction Time ; Research Personnel ; Scalp ; Schizophrenia

PURPOSE: To evaluate the types of questions and the quality of Internet information regarding basic life support (BLS) in the general public. METHODS: We identified the questions and answers by entering the following keywords into the famous Korean search engine, Naver, in the year 2015: ‘ Basic life support’, ‘ chest compression’, ‘ rescue breath’, ‘ defibrillation’, ‘ cardiac arrest’, and ‘ airway obstruction’. A total of 269 cases were identified. We classified the questions into one of 17 subgroups. The accuracy of answers was analyzed based on the contents of the 2010 American Heart Association Cardiopulmonary Resuscitation Guidelines. The reliability of the answers was analyzed by the health on the net foundation code of conduct (authoritative, attribution, transparency). RESULTS: The most frequently asked question was about ‘ when do I perform BLS?’. The second is ‘ chest compression technique’, and third is ‘ how to do BLS’. In assessing the accuracy of answers, 196 answers (72.9%) were determined to be correct. However, the reliability of answers was relatively low, except author's transparency (80.7%); authoritative is 49.4% and attribution is only 16.4%. CONCLUSION: The most common question for the general public was when to perform BLS. Other questions were ‘ how to perform BLS’ or questions regarding chest compression techniques as well as issues regarding female patient and legal problem. This result can be used to educate the public on BLS. According to our results, the accuracy of the information regarding BLS is moderate, but reliability is not acceptable. The quality of BLS information on the Internet should be managed at an expert level.
American Heart Association ; Cardiopulmonary Resuscitation* ; Female ; Humans ; Internet ; Republic of Korea ; Search Engine ; Thorax

OBJECTIVES: While parents who foster children with epilepsy would have considerable parenting difficulties, the parenting stress and sense of competence have not been investigated. We investigated maternal parenting stress, parenting satisfaction and sense of parenting competence in children with seizure disorders, and the associations with seizure-related variables. METHODS: Mothers of 79 children with seizure disorders (41 boys, 38 girls; mean age, 9.9+/-2.3 years) and 79 healthy comparison subjects matched for age and sex were recruited for this study. The Korean version of the Parenting Stress Index (K-PSI-SF) and the Parenting Sense of Competence (K-PSOC) were used to assess parenting stress, parenting satisfaction and parenting efficacy. RESULTS: Mothers of children with seizure disorders showed higher scores on stress related to difficult child and child learning and parenting anxiety compared to mothers of healthy children. In addition, scores on stress related to parental-child interaction and child learning were significantly associated with parental economic status. Scores on stress from parental-child interaction was also correlated with seizure severity, and stress from child learning was correlated with seizure type. Sense of parenting competence and anxiety scores were correlated with paternal educational status, respectively. CONCLUSION: These findings suggest that mothers of children with epilepsy have greater parenting stress and anxiety and social and seizure-associated factors may affect the parenting stress and anxiety.
Anxiety ; Child* ; Educational Status ; Epilepsy* ; Female ; Humans ; Learning ; Mental Competency* ; Mothers ; Parenting* ; Parents* ; Seizures*

OBJECTIVE: To compare swallowing function between healthy subjects and patients with pharyngeal dysphagia using high resolution manometry (HRM) and to evaluate the usefulness of HRM for detecting pharyngeal dysphagia. METHODS: Seventy-five patients with dysphagia and 28 healthy subjects were included in this study. Diagnosis of dysphagia was confirmed by a videofluoroscopy. HRM was performed to measure pressure and timing information at the velopharynx (VP), tongue base (TB), and upper esophageal sphincter (UES). HRM parameters were compared between dysphagia and healthy groups. Optimal threshold values of significant HRM parameters for dysphagia were determined. RESULTS: VP maximal pressure, TB maximal pressure, UES relaxation duration, and UES resting pressure were lower in the dysphagia group than those in healthy group. UES minimal pressure was higher in dysphagia group than in the healthy group. Receiver operating characteristic (ROC) analyses were conducted to validate optimal threshold values for significant HRM parameters to identify patients with pharyngeal dysphagia. With maximal VP pressure at a threshold value of 144.0 mmHg, dysphagia was identified with 96.4% sensitivity and 74.7% specificity. With maximal TB pressure at a threshold value of 158.0 mmHg, dysphagia was identified with 96.4% sensitivity and 77.3% specificity. At a threshold value of 2.0 mmHg for UES minimal pressure, dysphagia was diagnosed at 74.7% sensitivity and 60.7% specificity. Lastly, UES relaxation duration of <0.58 seconds had 85.7% sensitivity and 65.3% specificity, and UES resting pressure of <75.0 mmHg had 89.3% sensitivity and 90.7% specificity for identifying dysphagia. CONCLUSION: We present evidence that HRM could be a useful evaluation tool for detecting pharyngeal dysphagia.
Deglutition Disorders* ; Deglutition* ; Diagnosis ; Esophageal Sphincter, Upper ; Healthy Volunteers* ; Humans ; Manometry* ; Pharynx ; Relaxation ; ROC Curve ; Sensitivity and Specificity ; Tongue

OBJECTIVES: This study was conducted to investigate the association between the symptoms of boys with attentiondeficit hyperactivity disorder (ADHD) and the attention-deficit hyperactivity symptoms, temperament and character patterns of their parents. METHODS: Forty-five boys with ADHD and who met the DSM-IV criteria were evaluated by using the ADHD rating scale (ADHD-RS), and their parents completed the Korean Adult ADHD scale (K-AADHDS) and the Temperament and Character Inventory (TCI). RESULTS: The parental K-AADHDS scores were not associated with the ADHD-RS total score and the subscale scores of their siblings. The most potent variable related to the ADHD-RS total score was the maternal self-directedness, and the second was the maternal persistence. The maternal self-directedness was the variable that was most correlated with the hyperactivity/impulsivity subscale scores of the ADHD-RS. CONCLUSIONS: The results suggest that the paternal ADHD symptoms may not be related to the ADHD symptoms of boys with ADHD. Higher maternal self-directedness and persistence may decrease overall the ADHD symptoms of these boys, and higher maternal self-directedness itself may predict lower hyperactivity/impulsivity symptoms of the boys with ADHD.
Adult ; Diagnostic and Statistical Manual of Mental Disorders ; Humans ; Parents ; Siblings ; Temperament

Spinal accessory neuropathy (SAN) is commonly caused by an iatrogenic procedure, and that caused by tumors is very rare. We present a case of a 49-year-old man suffering from weakness in the right trapezius and sternocleidomastoid muscle. An electrophysiology study confirmed proximal SAN. Fluorodeoxyglucose (FDG)-positron emission tomography (PET)/computed tomography (CT) revealed a diffuse large B-cell lymphoma compressing the right spinal accessory nerve. Ultrasonography showed definite atrophy on the trapezius and sternocleidomastoid muscles. In addition, post-chemotherapy FDG-PET/CT showed increased FDG uptake in the right upper trapezius, suggestive of denervation. This is the first report of SAN caused by direct compression by a diffuse large B-cell lymphoma, comprehensively assessed by an electrophysiology study, ultrasonography, and FDG-PET/CT.
Accessory Nerve ; Atrophy ; B-Lymphocytes ; Denervation ; Electrophysiology ; Humans ; Lymphoma ; Lymphoma, B-Cell ; Middle Aged ; Muscles ; Superficial Back Muscles ; Ultrasonography

A first-trimester ultrasound scan has become an essential part of antenatal care. The Korean Society of Ultrasound in Obstetrics and Gynecology held a first-trimester ultrasound forum on April 5, 2014. The forum aimed to present an updated review of the literature on the topic of first-trimester ultrasound in specific lectures and to host a panel discussion on several important issues regarding first-trimester scans. The forum provided evidence- and consensus-based best practice patterns for obstetricians in Korea. Here, we report the review and checklists presented from the forum.
Checklist ; Female ; Gynecology* ; Humans ; Korea ; Lectures ; Nuchal Translucency Measurement ; Obstetrics* ; Practice Guidelines as Topic ; Pregnancy ; Pregnancy Trimester, First ; Ultrasonography*