BACKGROUND: A deletion (D)/insertion (I) polymorphism of the angiotensin-converting enzyme (ACE) gene is known to be associated with hypertension, left ventricular hypertrophy, myocardial infarction. Cardiac diseases, such as atrial fibrillation, valvular heart disease, myocardiac infarction and coronary artery disease have been clearly associated with increasing the risk of ischemic stroke. We investigated the relationship between ACE gene deletion/insertion (D/I) polymorphism and the pattern of ischemic stroke. METHODS: The pattern of ACE genotypes in 59 stroke patients including symptomatic carotid artery territory cerebral ischemia were compared with 101 age-matched control subjects. In the stroke patients, the degrees of stenosis of bilateral cervical carotid arteries and their major intracranial tributaries were recorded according to duplex neck sonography and magnetic resonance angiography. DNA was extracted from peripheral blood and ACE I/D polymorphism is confirmed by PCR method. RESULTS: In the stroke patients, 25.4% showed the I I genotypes, 8.5% the ID genotypes and 66.1% the DD genotypes. In the control group, the frequencies of each genotype were 20.8%, 55.4% and 23.8%, respectively. The DD genotypes were more common in patients with ischemic stroke compared with the controls, but there was no significant association between ACE genotypes and sub-types of cerebrovascular disease. CONCLUSIONS: The deletion polymorphism in the angiotensin-converting enzyme gene may play a role in development of ischemic stroke.
Angiotensins* ; Atrial Fibrillation ; Brain Ischemia ; Carotid Arteries ; Cerebral Infarction ; Constriction, Pathologic ; Coronary Artery Disease ; DNA ; Genotype ; Heart Diseases ; Heart Valve Diseases ; Humans ; Hypertension ; Hypertrophy, Left Ventricular ; Infarction ; Magnetic Resonance Angiography ; Myocardial Infarction ; Neck ; Peptidyl-Dipeptidase A* ; Polymerase Chain Reaction ; Stroke*

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

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

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

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

Background: Obesity, obstructive sleep apnea (OSA), and excessive daytime sleepiness (EDS) are common conditions and are interrelated. Obesity is a risk factor for OSA and independently associated with EDS. We aimed to evaluate frequency of EDS in morbid obese patients with OSA and to identify contribution factor for EDS. Methods: This was a retrospective cross-sectional study in single sleep center. Consecutive patients with OSA (with apnea-hypopnea index 5/h or more) with morbid obesity (body mass index over 35 kg/m2) was enrolled. EDS were defined as Epworth Sleepiness Scale of 10 points or more. Clinical and polysomnographic variables were compared between those with and without EDS. Results: Total 110 morbid obese patients with OSA were enrolled, and 34 (31%) of them had EDS. Those with EDS had higher subjective symptom of insomnia and depression. Rapid eye movement sleep latency was shorter and minimum saturation was lower for those with EDS. Multivariate logistic regression analysis identified insomnia severity (odds ratio, 1.117) and minimum saturation (odds ratio, 0.952) as independent contribution factor for EDS. Conclusions Result of this study suggest that 31.4% of morbid obese patients with OSA have EDS, and it can be affected by insomnia severity and desaturation during sleep.

This study aimed to assess the prognostic role of body mass index (BMI) in patients with metastatic renal cell carcinoma (mRCC) treated with first-line immune checkpoint inhibitor (ICI)-based therapy. We searched for relevant studies in the MEDLINE, Embase, and Cochrane Library databases. The initial search yielded 599 records, of which seven articles (2,517 patients) were selected for analysis. Patients with a high BMI had a favorable overall survival (OS) based on hazard ratio (HR) (crude HR 0.69, 95% confidence interval [CI] 0.57–0.83, p<0.0001; adjusted (a)HR 0.75, 95% CI 0.59–0.95, p=0.02), but not relative risk (RR 0.88, 95% CI 0.67–1.16, p=0.37). In the subgroup analysis, patients with a high BMI had better OS in the ICI with tyrosine kinase inhibitor (TKI) subgroup (aHR 0.71, 95% CI 0.55–0.92, p=0.01), while no significant difference was found in the ICI-only subgroup (aHR 1.02, 95% CI 0.56–1.87, p=0.95). Adjusted statistics for progression-free survival (PFS) were assessable in predominantly ICI-only studies and demonstrated a favorable outcome for patients with a low BMI (aHR 1.67, 95% CI 1.14–2.45, p=0.01). In conclusion, the impact of high BMI varies depending on the treatment type, exhibiting a favorable correlation with OS within ICI with TKI subgroup, but indicating an adverse association with PFS in the ICI-only subgroup. Further research is needed to clarify the influence of BMI by stratifying patients into ICI-only and ICI with TKI treatment to provide more insights.

In 2019, the Korean Society of Maternal-Fetal Medicine developed the first Korean clinical practice guidelines for prenatal aneuploidy screening and diagnostic testing. These guidelines were developed by adapting established clinical practice guidelines in other countries that were searched systematically, and the guidelines aim to assist in decision making of healthcare providers providing prenatal care and to be used as a source for education and communication with pregnant women in Korea. This article delineates clinical practice guidelines specifically for maternal serum screening for fetal aneuploidy and cell-free DNA (cfDNA) screening. A total of 19 key questions (12 for maternal serum and 7 for cfDNA screening) were defined. The main recommendations are: 1) Pregnant women should be informed of common fetal aneuploidy that can be detected, risks for chromosomal abnormality according to the maternal age, detection rate and false positive rate for common fetal aneuploidy with each screening test, limitations, as well as the benefits and risks of invasive diagnostic testing, 2) It is ideal to give counseling about prenatal aneuploidy screening and diagnostic testing at the first prenatal visit, and counseling is recommended to be given early in pregnancy, 3) All pregnant women should be informed about maternal serum screening regardless of their age, 4) cfDNA screening can be used for the screening of trisomy 21, 18, 13 and sex-chromosome aneuploidy. It is not recommended for the screening of microdeletion, 5) The optimal timing of cfDNA screening is 10 weeks of gestation and beyond, and 6) cfDNA screening is not recommended for women with multiple gestations. The guideline was reviewed and approved by the Korean Academy of Medical Sciences.

The Korean Society of Maternal Fetal Medicine proposed the first Korean guideline on prenatal aneuploidy screening and diagnostic testing, in April 2019. The clinical practice guideline (CPG) was developed for Korean women using an adaptation process based on good-quality practice guidelines, previously developed in other countries, on prenatal screening and invasive diagnostic testing for fetal chromosome abnormalities. We reviewed current guidelines and developed a Korean CPG on invasive diagnostic testing for fetal chromosome abnormalities according to the adaptation process. Recommendations for selected 11 key questions are: 1) Considering the increased risk of fetal loss in invasive prenatal diagnostic testing for fetal genetic disorders, it is not recommended for all pregnant women aged over 35 years. 2) Because early amniocentesis performed before 14 weeks of pregnancy increases the risk of fetal loss and malformation, chorionic villus sampling (CVS) is recommended for pregnant women who will undergo invasive prenatal diagnostic testing for fetal genetic disorders in the first trimester of pregnancy. However, CVS before 9 weeks of pregnancy also increases the risk of fetal loss and deformity. Thus, CVS is recommended after 9 weeks of pregnancy. 3) Amniocentesis is recommended to distinguish true fetal mosaicism from confined placental mosaicism. 4) Anti-immunoglobulin should be administered within 72 hours after the invasive diagnostic testing. 5) Since there is a high risk of vertical transmission, an invasive prenatal diagnostic testing is recommended according to the clinician's discretion with consideration of the condition of the pregnant woman. 6) The use of antibiotics is not recommended before or after an invasive diagnostic testing. 7) The chromosomal microarray test as an alternative to the conventional cytogenetic test is not recommended for all pregnant women who will undergo an invasive diagnostic testing. 8) Amniocentesis before 14 weeks of gestation is not recommended because it increases the risk of fetal loss and malformation. 9) CVS before 9 weeks of gestation is not recommended because it increases the risk of fetal loss and malformation. 10) Although the risk of fetal loss associated with invasive prenatal diagnostic testing (amniocentesis and CVS) may vary based on the proficiency of the operator, the risk of fetal loss due to invasive prenatal diagnostic testing is higher in twin pregnancies than in singleton pregnancies. 11) When a monochorionic twin is identified in early pregnancy and the growth and structure of both fetuses are consistent, an invasive prenatal diagnostic testing can be performed on one fetus alone. However, an invasive prenatal diagnostic testing is recommended for each fetus in cases of pregnancy conceived via in vitro fertilization, or in cases in which the growth of both fetuses differs, or in those in which at least one fetus has a structural abnormality. The guidelines were established and approved by the Korean Academy of Medical Sciences. This guideline is revised and presented every 5 years.