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1.
Journal of Clinical Neurology ; : 76-82, 2023.
Article in English | WPRIM | ID: wpr-967100

ABSTRACT

Background@#and Purpose This study aimed to determine the effects of oxcarbazepine (OXC) on the language function of patients with pediatric epilepsy. @*Methods@#We assessed the language abilities of patients aged 5–17 years with newly diagnosed focal epilepsy and the same number of age-matched healthy children using the Test of Problem Solving (TOPS) and the Receptive and Expressive Vocabulary Test–Receptive (REVT-R). The Mean Length of Utterance–words (MLU-w) was used to estimate linguistic productivity before and after OXC initiation. All patients received OXC monotherapy with a starting dosage of 10 mg/kg/day for 1 week, which in some cases was increased to 30 mg/kg/ day (or 1,200 mg/day). @*Results@#The study finally included 41 pediatric patients (22 males and 19 females; age 9.9±3.0 years, mean±standard deviation). All language parameters of the TOPS improved significantly after initiating OXC (determining cause, 12.5±4.8–13.7±4.1 [p=0.016]; making inference, 15.6±5.6–17.4±6.4 [p<0.001]; and predicting, 9.8±5.0–11.6±4.5 [p=0.001]). However, patients who received OXC did not exhibit a significantly extended MLU-w (determining cause, p=0.493; making inference, p=0.386; and predicting, p=0.341). Receptive language scores also significantly increased after taking OXC (REVT-R: 121.0±43.1–129.4±43.8, p=0.002), but the percentage of development age to chronological age did not vary (REVT-developmental quotient: p=0.075). @*Conclusions@#Our results suggest that OXC is safe and preserves language function in patients with pediatric epilepsy.

2.
Blood Research ; : 266-278, 2021.
Article in English | WPRIM | ID: wpr-913726

ABSTRACT

Background@#Treatment protocols for light chain (AL) amyloidosis have been derived from myeloma treatment. Bortezomib is a key drug used for the treatment of myeloma and AL amyloidosis. We retrospectively investigated the efficacy and toxicity of bortezomib-based chemotherapy in patients with newly diagnosed AL amyloidosis. @*Methods@#We reviewed the outcomes of newly diagnosed autologous stem cell transplantation (auto-SCT)-ineligible AL amyloidosis patients who received bortezomib-based chemotherapy at a referral center between 2011 and 2017. @*Results@#Of 63 patients who received bortezomib-based chemotherapy, 32 were male, and the median age was 66 years (range, 42‒82 yr). The hematologic overall response rate (ORR) was 65.1%, and the chemotherapy regimen with the best hematologic response was VMP (75.7%, 28/37). Sixty patients had significant organ (heart or kidney) involvement; 28.3% of patients (N=17) had major organ responses after chemotherapy. With a median follow-up of 34 months, there was no significant difference in progression-free survival (P =0.49) or overall survival (P =0.67) according to regimen. Most hematologic and non-hematologic problems were manageable. @*Conclusion@#Various chemotherapy combinations based on bortezomib are currently employed in the clinical setting, but no difference was found in terms of efficacy or toxicity.

3.
Journal of Korean Medical Science ; : e115-2020.
Article | WPRIM | ID: wpr-831502

ABSTRACT

Background@#Although neuromyelitis optica spectrum disorder (NMOSD) is known to be a rare disease, its prevalence and incidence have not yet been studied in Korea. We performed a population-based study to examine the prevalence and incidence of NMOSD in Korea using data from the Korean National Health Insurance (NHI) claims database. @*Methods@#Data from 2013 to 2017 were obtained, with a washout period set as 2013 and 2014. The prevalence and incidence of NMOSD in 2016 and 2017 were calculated using population census data. Subjects were divided into 5 groups at 15-year intervals, depending on the age at which the diagnostic code was entered. The relative risk (RR) for each age group was compared with the oldest (≥ 60 years) age group. @*Results@#The overall prevalence was estimated to be 3.36 and 3.56 per 100,000 individuals, with an incidence of 0.41 and 0.65 per 100,000 individuals-year in 2016 and 2017, respectively. The mean age was 43.08 (standard deviation, 14.56) years, and the ratio of male to females was 1:4.7. The incidence was higher in female individuals aged between 30 and 59 years (RR, 2.8–3.05; P < 0.05). @*Conclusion@#Nationwide prevalence of NMOSD in Korea was 3.36 and 3.56/100,000 and its incidence was 0.41 and 0.65/100,000-year in 2016 and 2017 respectively.

4.
Journal of the Korean Neurological Association ; : 191-194, 2019.
Article in Korean | WPRIM | ID: wpr-766766

ABSTRACT

Anti-Ma2-associated encephalitis is one of the paraneoplastic limbic and brainstem encephalitis characterized by decreased consciousness, parkinsonism and the limitation of vertical eye movement. It is usually associated with non-small cell lung cancer in male and female or germ cell tumor in male. Herein, we report a case of atypical anti-Ma2-associated encephalitis which presented with axonal sensorimotor polyneuropathy.


Subject(s)
Female , Humans , Male , Autoantibodies , Axons , Brain Stem , Carcinoma, Non-Small-Cell Lung , Consciousness , Encephalitis , Eye Movements , Limbic Encephalitis , Neoplasms, Germ Cell and Embryonal , Paraneoplastic Syndromes , Parkinsonian Disorders , Polyneuropathies
5.
Journal of Clinical Neurology ; : 480-487, 2019.
Article in English | WPRIM | ID: wpr-764369

ABSTRACT

BACKGROUND AND PURPOSE: Diagnosing small-fiber neuropathy (SFN) is challenging because there is no gold-standard test and few diagnostic tests. This study investigated the clinical symptom profile and its associations with the results of quantitative sensory testing (QST) and the quantitative sudomotor axon reflex test (QSART) as well as the quality of life (QOL) in patients with clinically suspected SFN. METHODS: This study involved 63 patients with clinically suspected length-dependent SFN. Assessments were performed using QST, QSART, SFN Symptoms Inventory Questionnaire, Neuropathic Pain Symptom Inventory, ‘Sirim’ frequency and ‘Sirim’ (cold) pain severity, and 36-item Short-Form Health Survey. Multiple logistic and linear regression analyses were performed to predict risk factors for QST or QSART abnormalities and QOL, respectively. RESULTS: ‘Sirim’ and ‘Sirim’ pain was the most-common (84%) and the most-severe complaint (mean score of 6.3 on a numerical rating scale ranging from 0 to 10) in patients with clinically suspected SFN. The findings of QST [cold detection threshold (CDT)] and QSART were abnormal in 71% (n=45/57) and 62% (n=39/56) of the patients, respectively. An abnormal CDT was correlated with more-severe stabbing pain (odds ratio=2.23, 95% CI=1.02–4.87, p=0.045). Restless-leg symptoms (β=−7.077) and pressure-evoked pain (β=−5.034) were independent predictors of the physical aspects of QOL. CONCLUSIONS: ‘Sirim’ pain, similar to cold pain, should be considered a major neuropathic pain in SFN. Among pain characteristics, stabbing pain of a spontaneous paroxysmal nature may be more pronounced in the setting of dysfunctional Aδ fibers with functional autonomic C fibers.


Subject(s)
Humans , Axons , Diagnostic Tests, Routine , Erythromelalgia , Health Surveys , Linear Models , Nerve Fibers, Unmyelinated , Neuralgia , Quality of Life , Reflex , Risk Factors
6.
Korean Journal of Ophthalmology ; : 82-90, 2019.
Article in English | WPRIM | ID: wpr-741296

ABSTRACT

PURPOSE: To describe the clinical characteristics and course of optic neuritis (ON) and its association with neuromyelitis optica spectrum disorder (NMOSD) and multiple sclerosis (MS) in Korea. METHODS: In this retrospective case series, 125 eyes of 91 Korean patients with ON were included. The medical documents of adult patients with ON were retrospectively reviewed. Patients were assigned into idiopathic ON, NMOSD, and MS groups according to the presence of an association with NMOSD or MS for subgroup analysis. Clinical characteristics, disease course, and visual and systemic prognosis were analyzed. RESULTS: During the mean follow-up of 3.7 years, 73 patients were diagnosed as idiopathic ON, 14 patients were diagnosed as NMOSD, and four patients developed definite MS. At the final visit, there were 13 (13%) eyes out of 100 eyes with idiopathic ON, nine (43%) eyes out of 21 eyes with NMOSD, and one (25%) eye out of four eyes with MS had a severe visual loss of 20 / 200 or less. The mean Expanded Disability Status Scale was 3.1 ± 1.5 in NMOSD and 1.8 ± 1.5 in the MS group at the final visit. In the NMOSD group, 50% of patients showed severe visual loss in at least one eye or were unable to ambulate without assistance at the final visit (5.3 ± 4.4 years after the initial episode of ON). CONCLUSIONS: Fourteen percent of patients showed positive results for NMO-immunoglobulin G test and 50% of patients with NMOSD showed a severe visual loss in at least one eye or were unable to ambulate without assistance. The proportion of MS was relatively low in Korean ON patients.


Subject(s)
Adult , Humans , Follow-Up Studies , Korea , Multiple Sclerosis , Neuromyelitis Optica , Optic Neuritis , Prognosis , Retrospective Studies
7.
Journal of Clinical Neurology ; : 537-541, 2018.
Article in English | WPRIM | ID: wpr-717419

ABSTRACT

BACKGROUND AND PURPOSE: This retrospective cross-sectional study included 18 patients from unrelated families harboring mutations of the transthyretin gene (TTR), and analyzed their characteristics and geographical distribution in South Korea. METHODS: The included patients had a diagnosis of systemic amyloidosis, clinical symptoms, such as amyloid neuropathy or cardiomyopathy, and confirmation of a TTR gene mutation using genetic analysis recorded between April 1995 and November 2014. RESULTS: The mean age at disease onset was 49.6 years, and the mean disease duration from symptom onset to diagnosis was 3.67 years. Fifteen of the 18 patients were classified as mixed phenotype, 2 as the neurological phenotype, and only 1 patient as the cardiac phenotype. The most-common mutation pattern in South Korea was Asp38Ala, which was detected in eight patients. Thirteen patients reported their family hometowns, and five of the eight harboring the Asp38Ala mutation were from the Gyeongsang province in southeast Korea. The other eight patients exhibited a widespread geographical distribution. A particularly noteworthy finding was that the valine at position 30 (Val30Met) mutation, which was previously reported as the most-common TTR mutation worldwide and also the most common in the Japanese population, was not detected in the present South Korean patients. CONCLUSIONS: South Korean patients with hereditary TTR amyloidosis exhibited heterogeneous TTR genotypes and clinical phenotypes. The findings of this study suggest that the distribution of TTR amyloidosis in South Korea is due to de novo mutations and/or related to the other countries in East Asia.


Subject(s)
Humans , Amyloid Neuropathies , Amyloidosis , Asian People , Cardiomyopathies , Cross-Sectional Studies , Diagnosis , Asia, Eastern , Genotype , Korea , Phenotype , Prealbumin , Retrospective Studies , Valine
8.
Journal of Clinical Neurology ; : 77-83, 2017.
Article in English | WPRIM | ID: wpr-154743

ABSTRACT

BACKGROUND AND PURPOSE: Eosinophilic granulomatosis with polyangiitis (EGPA) is a rare systemic small-vessel vasculitis accompanied by asthma, eosinophilia, and eosinophilic inflammation of various tissues including the peripheral nerves. This study investigated the clinical course and long-term outcomes of peripheral neuropathy in patients with EGPA. METHODS: Seventy-one patients with physician-diagnosed EGPA were identified at Samsung Medical Center between January 1995 and April 2014. Sixty-one of these patients were followed-up for more than 1 year and received corticosteroid therapy with or without intravenous cyclophosphamide pulse therapy for 6 to 18 months. Medical records of the 61 patients including demographic data, clinical features, laboratory and pathological findings, treatments, and outcomes were reviewed. RESULTS: Peripheral neuropathy as a manifestation of EGPA was present in 46 (75%) of the 61 patients. The mean follow-up duration of the patients with neuropathy was 6.4 years (range 1.2–18.8 years). The scores on the neurological functional disability scale before and after the combination treatment with corticosteroid and cyclophosphamide were 2.43±0.86 and 0.54±0.95 (mean±SD; p<0.001), respectively. The peripheral neuropathy relapsed in one patient. CONCLUSIONS: The long-term clinical outcome of peripheral neuropathy in patients with EGPA receiving initial corticosteroid and cyclophosphamide combination therapy was favorable with a very low relapse rate.


Subject(s)
Humans , Asthma , Cyclophosphamide , Eosinophilia , Eosinophils , Follow-Up Studies , Granulomatosis with Polyangiitis , Inflammation , Medical Records , Peripheral Nerves , Peripheral Nervous System Diseases , Prognosis , Recurrence , Vasculitis
9.
Neurology Asia ; : 123-131, 2017.
Article in English | WPRIM | ID: wpr-625489

ABSTRACT

Objective: To identify the clinical characteristics of patients with myasthenia gravis (MG) according to age at onset. Methods: We retrospectively recruited 227 non-thymomatous MG patients with adult onset who had been followed up for more than one year. The patients were classified based on the age of symptom onset as “early-onset MG” (EOMG,18–50 years; N=135), “late-onset MG” (LOMG, 50–64 years; N=53), and “very late-onset MG” (VLOMG, 65 years; N=39). Clinical features and serological findings were compared between these groups. Results: LOMG patients showed more frequent ocular MG (55%) and less frequent thymic hyperplasia (9%) compared to EOMG patients (31% and 38%; p=0.006 and p<0.001, respectively), and no female preponderance compared to VLOMG patients (female, 49% vs.77%; p=0.014). However, there were no significant differences between VLOMG and EOMG patients, except for more frequent thymic hyperplasia (p<0.001) in EOMG patients. When analyzing female patients only, less frequent secondary generalization (10%) were additionally found in LOMG patients, compared to EOMG (47%, p= 0.008) and VLOMG (59%, p=0.004) patients. Anti-acetylcholine receptor antibody (HR, 5.48; 95% CI, 1.73–17.37; p=0.004) was independently associated with secondary generalization in female EOMG patients. Conclusion: Our study suggests that LOMG patients, especially female, were characterized by frequent ocular MG and less frequent secondary generalization, distinguished from EOMG and VLOMG patients. Further large epidemiologic studies in Korea are needed to determine the characteristics of MG patients according to the age at onset and gender.

10.
Yonsei Medical Journal ; : 993-997, 2015.
Article in English | WPRIM | ID: wpr-150486

ABSTRACT

PURPOSE: Spinal and bulbar muscular atrophy (SBMA) is an X-linked motor neuron disease characterized by proximal muscle weakness, muscle atrophy, and fasciculation. Although SBMA is not uncommon in Korea, there is only one study reporting clinical characteristics and genotype-phenotype correlation in Korean patients. MATERIALS AND METHODS: In this study, age at the onset of symptoms, the score of severity assessed by impairment of activities of daily living milestones, and rate of disease progression, and their correlations with the number of CAG repeats in the androgen receptor (AR) gene, as well as possible correlations among clinical characteristics, were analyzed in 40 SBMA patients. RESULTS: The median ages at onset and at diagnosis were 44.5 and 52.5 years, respectively, and median interval between onset and diagnosis and median rate of disease progression were 5.0 years and 0.23 score/year, respectively. The median number of CAG repeats in the AR gene was 44 and the number of CAG repeats showed a significant inverse correlation with the age at onset of symptoms (r=-0.407, p=0.009). In addition, patients with early symptom onset had slower rate of disease progression. CONCLUSION: As a report with the largest and recent Korean cohort, this study demonstrates clinical features of Korean patients with SBMA and reaffirms the inverse correlation between the age at disease onset and the number of CAG repeats. Interestingly, this study shows a possibility that the rate of disease progression may be influenced by the age at onset of symptoms.


Subject(s)
Adult , Female , Humans , Male , Middle Aged , Activities of Daily Living , Age of Onset , Asian People/genetics , Bulbo-Spinal Atrophy, X-Linked/genetics , Disease Progression , Genes, Recessive , Genetic Association Studies , Genotype , Muscle Weakness/physiopathology , Muscular Atrophy, Spinal , Muscular Disorders, Atrophic/genetics , Phenotype , Receptors, Androgen/genetics , Republic of Korea , Trinucleotide Repeats/genetics
11.
Journal of the Korean Neurological Association ; : 312-315, 2012.
Article in Korean | WPRIM | ID: wpr-213041

ABSTRACT

Progressive multifocal leukoencephalopathy (PML) is a rare and fatal disease caused by JC virus. We report a case of PML which developed in a 61-year-old female patient with myasthenia gravis (MG) and thymoma. After 6 years of immunotherapy and chemotherapy she presented with hand weakness followed by progressive decline of consciousness. Serial brain MRI showed rapidly progressive multifocal white matter changes. The JC virus DNA was detected on cerebrospinal fluid. This is a third report of PML in MG.


Subject(s)
Female , Humans , Middle Aged , Brain , Consciousness , DNA , Hand , Immunotherapy , JC Virus , Leukoencephalopathy, Progressive Multifocal , Myasthenia Gravis , Thymoma
12.
Journal of Korean Medical Science ; : 200-206, 2012.
Article in English | WPRIM | ID: wpr-156433

ABSTRACT

To evaluate the efficacy and safety of ursodeoxycholic acid (UDCA) with oral solubilized formula in amyotrophic lateral sclerosis (ALS) patients, patients with probable or definite ALS were randomized to receive oral solubilized UDCA (3.5 g/140 mL/day) or placebo for 3 months after a run-in period of 1 month and switched to receive the other treatment for 3 months after a wash-out period of 1 month. The primary outcome was the rate of progression, assessed by the Appel ALS rating scale (AALSRS), and the secondary outcomes were the revised ALS functional rating scale (ALSFRS-R) and forced vital capacity (FVC). Fifty-three patients completed either the first or second period of study with only 16 of 63 enrolled patients given both treatments sequentially. The slope of AALSRS was 1.17 points/month lower while the patients were treated with UDCA than with placebo (95% CI for difference 0.08-2.26, P = 0.037), whereas the slopes of ALSFRS-R and FVC did not show significant differences between treatments. Gastrointestinal adverse events were more common with UDCA (P < 0.05). Oral solubilized UDCA seems to be tolerable in ALS patients, but we could not make firm conclusion regarding its efficacy, particularly due to the high attrition rate in this cross-over trial.


Subject(s)
Female , Humans , Male , Middle Aged , Administration, Oral , Amyotrophic Lateral Sclerosis/drug therapy , Cholagogues and Choleretics/pharmacology , Cross-Over Studies , Double-Blind Method , Placebo Effect , Severity of Illness Index , Ursodeoxycholic Acid/pharmacology , Vital Capacity/drug effects
13.
Annals of Laboratory Medicine ; : 331-338, 2012.
Article in English | WPRIM | ID: wpr-132348

ABSTRACT

BACKGROUND: The presence of antibodies to aquaporin-4 (AQP4) has been identified as a key characteristic of neuromyelitis optica spectrum disorder (NMOSD), an autoimmune inflammatory demyelinating central nervous system (CNS) disorder. We evaluated the performance of a cell-based indirect immunofluorescence assay (CIIFA) for detecting AQP4 antibodies using antigen prepared with a recombinant AQP4 peptide transfection technique and assessed the usefulness of CIIFA for diagnosis of NMOSD in routine clinical practice. METHODS: Forty-six serum samples from 36 patients as a comparison set and another 101 patients enrolled consecutively from a neurology clinic were included. CIIFA and fluorescence immunoprecipitation assays (FIPA) were performed. CIIFA was performed at 2 different institutions for comparison purposes. RESULTS: CIIFA and FIPA sensitivity in the comparison set was 86% and 79% in neuromyelitis optica (NMO) patients and 55% and 36% in high-risk NMO patients, respectively. The semiquantitative titer measured by CIIFA correlated well with the arbitrary unit (fluorescence units [FU]) derived from FIPA (r=0.66). Titers measured by CIIFA and FIPA were elevated in NMO patients compared to high-risk NMO patients (1:240 vs. 1:180 and 8,390 vs. 4,059 FU, respectively). The frequency of AQP4 antibody detection by CIIFA in 101 consecutively enrolled patients was 100% in NMO and 23% in high-risk NMO patients, while only 4.6% in control patients, including those with multiple sclerosis. CONCLUSIONS: Detection of AQP4 antibodies by CIIFA provides sensitive and highly specific diagnostic information for NMO and high-risk NMO patients, which can be used to differentiate these conditions from other demyelinating CNS diseases.


Subject(s)
Adult , Aged , Female , Humans , Male , Middle Aged , Antibodies/blood , Aquaporin 4/immunology , Fluorescent Antibody Technique, Indirect , Neuromyelitis Optica/diagnosis , Reagent Kits, Diagnostic
14.
Annals of Laboratory Medicine ; : 331-338, 2012.
Article in English | WPRIM | ID: wpr-132345

ABSTRACT

BACKGROUND: The presence of antibodies to aquaporin-4 (AQP4) has been identified as a key characteristic of neuromyelitis optica spectrum disorder (NMOSD), an autoimmune inflammatory demyelinating central nervous system (CNS) disorder. We evaluated the performance of a cell-based indirect immunofluorescence assay (CIIFA) for detecting AQP4 antibodies using antigen prepared with a recombinant AQP4 peptide transfection technique and assessed the usefulness of CIIFA for diagnosis of NMOSD in routine clinical practice. METHODS: Forty-six serum samples from 36 patients as a comparison set and another 101 patients enrolled consecutively from a neurology clinic were included. CIIFA and fluorescence immunoprecipitation assays (FIPA) were performed. CIIFA was performed at 2 different institutions for comparison purposes. RESULTS: CIIFA and FIPA sensitivity in the comparison set was 86% and 79% in neuromyelitis optica (NMO) patients and 55% and 36% in high-risk NMO patients, respectively. The semiquantitative titer measured by CIIFA correlated well with the arbitrary unit (fluorescence units [FU]) derived from FIPA (r=0.66). Titers measured by CIIFA and FIPA were elevated in NMO patients compared to high-risk NMO patients (1:240 vs. 1:180 and 8,390 vs. 4,059 FU, respectively). The frequency of AQP4 antibody detection by CIIFA in 101 consecutively enrolled patients was 100% in NMO and 23% in high-risk NMO patients, while only 4.6% in control patients, including those with multiple sclerosis. CONCLUSIONS: Detection of AQP4 antibodies by CIIFA provides sensitive and highly specific diagnostic information for NMO and high-risk NMO patients, which can be used to differentiate these conditions from other demyelinating CNS diseases.


Subject(s)
Adult , Aged , Female , Humans , Male , Middle Aged , Antibodies/blood , Aquaporin 4/immunology , Fluorescent Antibody Technique, Indirect , Neuromyelitis Optica/diagnosis , Reagent Kits, Diagnostic
15.
Journal of the Korean Neurological Association ; : 101-103, 2010.
Article in Korean | WPRIM | ID: wpr-93624

ABSTRACT

Venous angioma is normally asymptomatic, but it can present with clinical presentations such as seizures, headache, and focal neurological deficits. Brain hemorrhage is known to be the most common complication, with nonhemorrhagic brain infarction due to venous angioma being very rare. We report the first case of supratentorial venous angioma complicated by nonhemorrhagic venous infarction. This case occurred in a 49-year-old female, and was confirmed by magnetic resonance (MR) imaging including contrast-enhanced MR venography and perfusion imaging.


Subject(s)
Female , Humans , Middle Aged , Brain Infarction , Central Nervous System Venous Angioma , Headache , Hemangioma , Infarction , Intracranial Hemorrhages , Magnetic Resonance Spectroscopy , Perfusion Imaging , Phlebography , Seizures
16.
Journal of the Korean Neurological Association ; : 224-230, 2008.
Article in Korean | WPRIM | ID: wpr-113740

ABSTRACT

BACKGROUND: Alzheimer's disease (AD) is characterized by the pathology of amyloid plaques and tau-associated neurofibrillary tangles. Acetylcholine esterase (AChE) transforms the beta-amyloid monomer into an oligomer, and increases beta-amyloid aggregation in the brain. Increased beta-amyloid breaks the cytoskeleton of the brain by hyperphosphorylation of the tau protein. Previous studies support that AChE inhibitor has an inhibitory effect on toxicity of the beta-amyloid and phophorylated tau protein. The purpose of this study was to analyze the CSF beta-amyloid 1-42 (A beta 1-42) and phosphorylated tau protein in AD and determine their difference depending on whether AChE inhibitor was taken or not. METHODS: Subjects included 16 AD, 14 normal controls, and 15 disease controls. Nine of AD group had taken an AChE inhibitor while the remainder had not. The CSF A beta 1-42 and phosphorylated tau were measured by ELISA. RESULTS: The CSF A beta 1-42 levels were lower in AD patients than in other groups (p<0.01). We also found increased CSF A beta 1-42 levels in the AChE inhibitor users, compared with non-users. CONCLUSIONS: The level of CSF A beta 1-42 may have a diagnostic value in the patients with cognitive impairments. Also, we may expect the effect of AChE inhibitor on Alzheimer's pathology by measuring CSF A beta 1-42 levels. Therefore, the level of CSF A beta 1-42 may serve as a biological surrogate marker for AD treatment.


Subject(s)
Humans , Acetylcholine , Alzheimer Disease , Biomarkers , Brain , Cytoskeleton , Neurofibrillary Tangles , Plaque, Amyloid , tau Proteins
17.
Journal of Korean Medical Science ; : 1098-1101, 2007.
Article in English | WPRIM | ID: wpr-204030

ABSTRACT

Centronuclear myopathies are clinically and genetically heterogenous diseases with common histological findings, namely, centrally located nuclei in muscle fibers with a predominance and hypotrophy of type 1 fibers. We describe two cases from one family with autosomal dominant centronuclear myopathy with unusual clinical features that had initially suggested distal myopathy. Clinically, the patients presented with muscle weakness and atrophy localized mainly to the posterior compartment of the distal lower extremities. Magnetic resonance imaging revealed predominant atrophy and fatty changes of bilateral gastrocnemius and soleus muscles. This report demonstrates the expanding clinical heterogeneity of autosomal dominant centronuclear myopathy.


Subject(s)
Adolescent , Female , Humans , Middle Aged , Genes, Dominant , Muscle, Skeletal/pathology , Myopathies, Structural, Congenital/genetics
18.
Journal of the Korean Neurological Association ; : 792-795, 2005.
Article in Korean | WPRIM | ID: wpr-215185

ABSTRACT

BACKGROUND: A variable proportion of seronegative myasthenia gravis (SNMG) patients have antibodies to the muscle-specific tyrosine kinase (MuSK). Although several reports from Western countries suggest differences in the clinical features of MuSK antibody-positive and -negative SNMG patients, there have been no reports about these patients in Korea. METHODS: We performed the first survey of MuSK antibodies in Korea, measuring MuSK antibodies by commercial preparations (RSR Ltd) in the serum of SNMG patients who registered at the Seoul National University Hospital from October 2003 to January 2004, and identified clinical features and treatment responses prospectively until October 2004 using double blind method. RESULTS: Twenty-three (15 generalized and eight ocular MG, 15 men and eight women) SNMG patients with the ages from 1 to 60 years, (mean 36.24+/-16.82 years), were included. None of 8 ocular SNMG had MuSK antibody, whereas MuSK antibody was present in four (26.7%) of 15 generalized SNMG. All four MuSK positive patients were females, with pharyngeal and respiratory muscle weakness, and required immunosuppressive treatment in addition to acetylcholine esterase inhibitors. However, the overall disease severity and the age of onset did not show significant differences between MuSK antibody-positive and -negative SNMG patients and the responses to treatment were equally favorable. CONCLUSIONS: Our study showed the lower rate of MuSK antibodies in SNMG than the previous reports. However it seems to require large multicenter survey to confirm the possibilities of geographical or ethnical differences in the future.


Subject(s)
Female , Humans , Male , Acetylcholine , Age of Onset , Antibodies , Double-Blind Method , Korea , Myasthenia Gravis , Prospective Studies , Protein-Tyrosine Kinases , Respiratory Muscles , Seoul
19.
Korean Journal of Anesthesiology ; : 250-254, 1984.
Article in Korean | WPRIM | ID: wpr-173250

ABSTRACT

This study was undertaken to investigate the effect of anesthesia(balanced anesthesia) and surgery on plasma thyroxine and triiodothyronine levels in ten surgical patients by means of the radioimmunoassay method which provides a quantitative measure of thyroid function. The sex ratio between male and female patients was 1:1, mean age was 30.1+/-12.26 and the average body weight was 57.38+/-15.81kg. The plasma triiodothyronine level before anesthesia and surgery was 138.1+/-32.64(ug/dl) but at 90 minutes and 120 minutes after anesthesia and surgery they were 100+/-19.64(ug/dl) and 92.4+/-7.49(ug/dl) respectively. The plasma thyroxine level remained unchanged during anesthesia and surgery. Consequently there was a statistically significant decreased level in plasma triiodothyronine but there was no change in plasma thyroxine level during anesthesia and surgery.


Subject(s)
Female , Humans , Male , Anesthesia , Balanced Anesthesia , Body Weight , Plasma , Radioimmunoassay , Sex Ratio , Thyroid Gland , Thyroxine , Triiodothyronine
20.
Korean Journal of Anesthesiology ; : 339-343, 1983.
Article in Korean | WPRIM | ID: wpr-107525

ABSTRACT

An increasing interest in intravenous anesthetic techniques has resulted from the availability of more efficacious intravenous agents, possible discomfor of the patient on endotracheal intubation and the concern over anesthetic pollution in the operating room. This study was done to investigate the effect of intravenous anesthesia with ketamine on the respiratory system by comparing arterial blood gas analysis before and after the procedure. Analysis of arterial blood for PCO2, PO2, pH, and excess were carried out. Heart rate and blood pressure were monitored on 15 patients in ASA class l for diagnostic or short procedures. Each patient was premedicated with atropine 0.01mg/kg and valium 0.2mg/kg intramuscularly 30 minutes before the procedure. ketamine was administered intravenously 1.0~1.5 mg/kg or intramuscularly 3~5mg/kg for induction of anesthesia. The anesthesia was maintained with ketamine 0.5~1.0mg/kg and valium 0.1mg/kg ever 5 to 10 minutes. The results of this study showed that ketmine anesthesia seemed not to cause any untoward effect on respiratory function. In other words, ketamine seems to be a safe and good intravenous anesthetic agent for diagnostic or short surgical procedures.


Subject(s)
Humans , Anesthesia , Anesthesia, Intravenous , Atropine , Blood Gas Analysis , Blood Pressure , Diazepam , Heart Rate , Hydrogen-Ion Concentration , Intubation, Intratracheal , Ketamine , Operating Rooms , Respiratory System
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