PURPOSE: This study aimed to investigate fetal ultrasonographic findings in cases of prenatally diagnosed de novo balanced translocations and the role of fetal ultrasound in prenatal genetic counseling. MATERIALS AND METHODS: We collected cases with de novo balanced translocations that were confirmed in chorionic villus sampling, amniocentesis, and cordocentesis between 1995 and 2016. A detailed, high-resolution ultrasonography was performed for prediction of prognosis. Chromosomes from the parents of affected fetuses were also analyzed to determine whether the balanced translocations were de novo or inherited. RESULTS: Among 32,070 cases with prenatal cytogenetic analysis, 27 cases (1/1,188 incidence) with de novo balanced translocations were identified. Fourteen cases (51.9%) showed abnormal findings, and the frequency of major structural anomalies was 11.1%. Excluding the major structural anomalies, all mothers who continued pregnancies delivered healthy babies. CONCLUSION: Results of a detailed, high-resolution ultrasound examination are very important in genetic counseling for prenatally diagnosed de novo balanced translocations.
Amniocentesis ; Chorionic Villi Sampling ; Cordocentesis ; Cytogenetic Analysis ; Female ; Fetus ; Genetic Counseling ; Humans ; Mothers ; Parents ; Pregnancy ; Prenatal Diagnosis ; Prognosis ; Translocation, Genetic ; Ultrasonography* ; Ultrasonography, Prenatal

“Clinical Practice Guideline for Stroke Rehabilitation in Korea 2016” is the 3rd edition of clinical practice guideline (CPG) for stroke rehabilitation in Korea, which updates the 2nd edition published in 2014. Forty-two specialists in stroke rehabilitation from 21 universities and 4 rehabilitation hospitals and 4 consultants participated in this update. The purpose of this CPG is to provide optimum practical guidelines for stroke rehabilitation teams to make a decision when they manage stroke patients and ultimately, to help stroke patients obtain maximal functional recovery and return to the society. The recent two CPGs from Canada (2015) and USA (2016) and articles that were published following the 2nd edition were used to develop this 3rd edition of CPG for stroke rehabilitation in Korea. The chosen articles' level of evidence and grade of recommendation were decided by the criteria of Scotland (2010) and the formal consensus was derived by the nominal group technique. The levels of evidence range from 1++ to 4 and the grades of recommendation range from A to D. Good Practice Point was recommended as best practice based on the clinical experience of the guideline developmental group. The draft of the developed CPG was reviewed by the experts group in the public hearings and then revised. “Clinical Practice Guideline for Stroke Rehabilitation in Korea 2016” consists of ‘Chapter 1; Introduction of Stroke Rehabilitation’, ‘Chapter 2; Rehabilitation for Stroke Syndrome, ‘Chapter 3; Rehabilitation for Returning to the Society’, and ‘Chapter 4; Advanced Technique for Stroke Rehabilitation’. “Clinical Practice Guideline for Stroke Rehabilitation in Korea 2016” will provide direction and standardization for acute, subacute and chronic stroke rehabilitation in Korea.
Canada ; Consensus ; Consultants ; Humans ; Korea* ; Practice Guidelines as Topic ; Rehabilitation* ; Scotland ; Specialization ; Stroke*

Cardioprotective effect of fimasartan, a new angiotensin receptor blocker (ARB), was evaluated in a porcine model of acute myocardial infarction (MI). Fifty swine were randomized to group 1 (sham, n=10), group 2 (no angiotensin-converting enzyme inhibitor [ACEI] or ARB, n=10), group 3 (perindopril 2 mg daily, n=10), group 4 (valsartan 40 mg daily, n=10), or group 5 (fimasartan 30 mg daily, n=10). Acute MI was induced by occlusion of the left anterior descending artery for 50 min. Echocardiography, single photon emission computed tomography (SPECT), and F-18 fluorodeoxyglucose cardiac positron emission tomography (PET) were performed at baseline, 1 week, and 4 weeks. Iodine-123 meta-iodobenzylguanidine (MIBG) scan was done at 6 weeks for visualization of cardiac sympathetic activity. Left ventricular function and volumes at 4 weeks were similar between the 5 groups. No difference was observed in groups 2 to 5 in SPECT perfusion defect, matched and mismatched segments between SPECT and PET at 1 week and 4 weeks. MIBG scan showed similar uptake between the 5 groups. Pathologic analysis showed similar infarct size in groups 2 to 5. Infarct size reduction was not observed with use of fimasartan as well as other ACEI and ARB in a porcine model of acute MI.
3-Iodobenzylguanidine ; Angiotensin II Type 1 Receptor Blockers/therapeutic use ; Angiotensin Receptor Antagonists/*therapeutic use ; Angiotensin-Converting Enzyme Inhibitors/therapeutic use ; Animals ; Anterior Wall Myocardial Infarction/*drug therapy/physiopathology ; Biphenyl Compounds/*therapeutic use ; Cardiotonic Agents/*therapeutic use ; Disease Models, Animal ; Echocardiography ; Fluorodeoxyglucose F18 ; Perindopril/therapeutic use ; Positron-Emission Tomography ; Pyrimidines/*therapeutic use ; Random Allocation ; Swine ; Tetrazoles/*therapeutic use ; Tomography, Emission-Computed, Single-Photon ; Valsartan/therapeutic use ; Ventricular Function, Left/*physiology

OBJECTIVE: To adapt and standardize the Motor-Free Visual Perception Test-3 (MVPT-3) to Koreans and investigate the change in visual-perceptual function using the MVPT-3 in healthy Korean adults. METHODS: The Korean version of the MVPT-3 was developed through a cross-cultural adaptation process according to 6 steps, including translation, reconciliation, back translation, cognitive debriefing, feedback, and final reconciliation. A total of 321 healthy Korean volunteers (mean age, 51.05 years) were recruited. We collected participant demographic data, such as sex, age, and years of education, and performed the Korean version of the Mini-Mental State Examination (K-MMSE) and MVPT-3. Internal consistency of the MVPT-3 and the relationships between demographic data, K-MMSE and MVPT-3 scores were analyzed. The results of this study were compared with published data from western countries including the United States and Canada. RESULTS: Total score on the MVPT-3 was positively correlated with years of education (r=0.715, p<0.001) and K-MMSE score (r=0.718, p<0.001). However, it had a negative correlation with age (r=-0.669, p<0.001). A post-hoc analysis of MVPT-3 scores classified age into 5 groups of < or =49, 50-59, 60-69, 70-79, > or =80 years and years of education into 4 groups of 0, 1-9, 10-12, > or =13 years. No significant differences in MVPT-3 scores were observed according to sex or country. CONCLUSION: Visual perception was significantly influenced by age, years of education, and cognitive function. Reference values for the MVPT-3 provided in this study will be useful for evaluating and planning a rehabilitation program of visual perceptual function in patients with brain disorders.
Adult* ; Brain Diseases ; Canada ; Cognition Disorders ; Education ; Humans ; Reference Values ; Rehabilitation ; United States ; Visual Perception* ; Volunteers

BACKGROUND: Propofol is a good induction agent, but it has the disadvantage of causing pain on intravenous injection. The incidence of propofol-induced pain is approximately 70%. Palonosetron is a novel second-generation 5-hydroxytryptamine type 3 (5-HT3) receptor antagonist. We presumed that palonosetron would be effective in reducing the occurrence of propofol-induced pain based on similar mechanisms to other 5-HT3 receptor antagonists. METHODS: Eighty patients were randomized to either Group N (0.9% sodium chloride [normal saline] 2 ml, n = 40) or Group P (palonosetron 0.075 mg, 2 ml, n = 40). Patients were intravenously given a 2 ml pretreatment solution, containing either palonosetron 0.075 mg or normal saline. Following pretreatment with 2 ml of palonosetron 0.075 mg or normal saline, we manually occluded venous drainage midarm with the help of an assistant. One minute later, we released the occlusion of venous drainage. This was followed by a 5-second propofol injection at 25% of the total calculated doses. Patients were then interviewed about whether or not they experienced propofol-induced pain. RESULTS: Overall, the incidence of propofol-induced pain was 60% in the normal saline group and 27.5% in the palonosetron group. No patients in the palonosetron group experienced severe pain. The incidence of propofol-induced pain was significantly lower in the palonosetron group compared to the normal saline group (P < 0.01). CONCLUSIONS: Following pretreatment with palonosetron, 72.5% of patients experienced a decrease in the occurrence of propofol-induced pain.
Drainage ; Humans ; Incidence ; Injections, Intravenous ; Propofol* ; Receptors, Serotonin, 5-HT3 ; Serotonin ; Sodium Chloride

OBJECTIVE: To investigate long-term functional changes and its underlying factors in stroke patients. METHOD: Data were collected retrospectively from the stroke patients who had been completed at least 2 times of functional evaluation after discharge. 60 stroke patients were included and we investigated long-term change of motor, cognition and activities of daily living score at 6 months from the onset and the last score during the follow up period. The motor function included manual function test (MFT), Korean version of Berg balance scale (K-BBS), cognitive function by Korean version of mini-mental status examination (K-MMSE), activities of daily living by Korean version of modified Barthel index (K-MBI). To identify the factors influencing long-term function outcome after stroke, biographical data and risk factors were collected and bivariate correlation analysis was performed. RESULTS: The mean duration of follow-up was 23.4 months and MFT, BBS, MMSE, and K-MBI scores showed no significant difference between 6 months from the onset and final evaluation. History of recurrent stroke (p = 0.007) and hypertension (p = 0.017) were significantly related with decline of cognition during follow up period. All the other independent variables were not statistically significant. CONCLUSION: None of the function showed significant changes during the 2 year of mean follow-up period. Recurrent stroke and hypertension were significant predictor for decline of cognitive function. Our results suggest that secondary prevention including blood pressure control is important to prevent decline of cognitive function after stroke.
Activities of Daily Living ; Blood Pressure ; Cognition ; Follow-Up Studies ; Humans ; Hypertension ; Postural Balance ; Retrospective Studies ; Risk Factors ; Secondary Prevention ; Stroke ; Upper Extremity

OBJECTIVE: To investigate long-term functional changes and its underlying factors in stroke patients. METHOD: Data were collected retrospectively from the stroke patients who had been completed at least 2 times of functional evaluation after discharge. 60 stroke patients were included and we investigated long-term change of motor, cognition and activities of daily living score at 6 months from the onset and the last score during the follow up period. The motor function included manual function test (MFT), Korean version of Berg balance scale (K-BBS), cognitive function by Korean version of mini-mental status examination (K-MMSE), activities of daily living by Korean version of modified Barthel index (K-MBI). To identify the factors influencing long-term function outcome after stroke, biographical data and risk factors were collected and bivariate correlation analysis was performed. RESULTS: The mean duration of follow-up was 23.4 months and MFT, BBS, MMSE, and K-MBI scores showed no significant difference between 6 months from the onset and final evaluation. History of recurrent stroke (p = 0.007) and hypertension (p = 0.017) were significantly related with decline of cognition during follow up period. All the other independent variables were not statistically significant. CONCLUSION: None of the function showed significant changes during the 2 year of mean follow-up period. Recurrent stroke and hypertension were significant predictor for decline of cognitive function. Our results suggest that secondary prevention including blood pressure control is important to prevent decline of cognitive function after stroke.
Activities of Daily Living ; Blood Pressure ; Cognition ; Follow-Up Studies ; Humans ; Hypertension ; Postural Balance ; Retrospective Studies ; Risk Factors ; Secondary Prevention ; Stroke ; Upper Extremity

PURPOSE: The aim of this study was to analyze parental decisions regarding pregnancies in which the fetus had sex chromosome abnormalities (SCA) over a ten-year period. MATERIALS AND METHODS: We collected and reviewed records from our hospital for 2001-2010 and a genetic specialist provided-genetic counseling. RESULTS: We diagnosed 130 cases (0.71%) with SCA out of 18,376 prenatal cases from 2001 to 2010. We reviewed the records and the results of all pregnancies. We also included cases (n=84) of apparently normal anatomic fetuses to analyze the factors influencing parental decisions. We excluded 34 cases with an obvious anomaly or a presumably bad outcome and 12 cases that were not followed up. Forty-three couples (51.2%) continued their pregnancies while forty-one (48.8%) terminated them. Of 38 mosaicism cases, 21 (55.3%) were continued. Among the 20 pregnancies assisted by reproductive techniques, 15 (75%) were continued (P=0.02). More pregnancies were continued when genetic counseling was provided (61.9%) compared to cases in which it was not provided (19%) (P=0.01). CONCLUSION: Genetic counseling is important in providing appropriate information to parents. Establishing guidelines and protocols will help both obstetricians and parents to make informed decisions.
Family Characteristics ; Fetus ; Genetic Counseling ; Humans ; Mosaicism ; Parents ; Pregnancy ; Prenatal Diagnosis ; Reproductive Techniques ; Sex Chromosome Aberrations ; Sex Chromosomes ; Specialization

OBJECTIVE: To investigate the recognition about clinical application of "neurodevelopmental treatment (NDT)". METHOD: We surveyed on the recognition for Bobath and NDT concepts and its training programs provided by Korean Academy of Rehabilitation Medicine from Jan 2009 to Feb 2009. The survey was made for physiatrists and physical therapists (PTs), separately. One hundred twelve physiatrists and 322 PTs have participated. RESULTS: In physiatrist, interest in NDT was very high (98%), and the need for further knowledge of NDT was also high (95%). Though the NDT was mainly used techniques in neuro-rehabilitation setting, the expectation about effectiveness of it was moderate (56%) and the requirement of changing concepts of the NDT was very high (93%). PTs have carried out NDT most frequently with Bobath's concepts, but they also did not regard NDT as the best procedure. PTs emphasized the importance of their handling technique in NDT practices and also had high interest in the other maneuvers beside Bobath's. CONCLUSION: Physiatrists and PTs regard NDT as one of the most important treating method for patients with brain lesions, but it is not approved as the most effective method yet. Nowadays NDT is changing or adapting, with discarding some of the old Bobath's concepts and adding new modern scientific knowledge. Therefore we suggest that physiatrists to give PTs the revised NDT concepts and evidence based the other therapeutic methods. And the NDT needs to be verified its therapeutic efficacy with evidence based view points through proper studies.
Brain ; Handling (Psychology) ; Humans ; Physical Therapists

Hyperthyroidism is diagnosed when a patient is presented with typical symptoms, such as weight loss, palpitation, and hand tremor. However, early diagnosis is difficult in elders, because they have no typical symptoms, but only cardiovascular or muscular symptoms. In hyperthyroidism, there are often with neurologic changes, leading to various neurologic symptoms. Generalized or focal seizures are rarely reported in thyrotoxicosis and thyrotoxic crisis. Further, cases of hyperthyroidism presented as generalized seizure attack are extremely rare. We report a case of hyperthyroidism. A patient is presented at the hospital with mental change, as well as generalized seizure, who was finally diagnosed to have Graves' disease. A 56-year-old male was admitted to the hospital because of mental change with generalized seizure attack. Initial neurologic evaluations, including a brain magnetic resonance imaging and electroencephalogram proved to be normal. But, thyroid function test showed abnormal results. We diagnosed him as Graves' disease and prescribed anti-thyroid drug. Thereafter, there has been no recurrence of neurologic symptoms for 12 months.
Brain ; Early Diagnosis ; Electroencephalography ; Graves Disease ; Hand ; Humans ; Hyperthyroidism ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Neurologic Manifestations ; Recurrence ; Seizures ; Thyroid Crisis ; Thyroid Function Tests ; Thyrotoxicosis ; Tremor ; Weight Loss