Magnetic resonance imaging reveals selective vulnerability of the cerebellum and basal ganglia in malignant hyperthermia.
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Anesthesia, General↗
Biomedical subjects
Kwang-Soo Lee
Publications and source records attributed to Kwang-Soo Lee.
A randomized crossover comparative study of aspirin, cilostazol and clopidogrel in normal controls: analysis with quantitative bleeding time and platelet aggregation test.
The effects of three antiplatelet drugs, aspirin, clopidogrel and cilostazol, were examined and compared using a quantitative bleeding time (QBT) test apparatus. In 12 healthy adult male subjects, a QBT test and platelet aggregation test were performed before and after medication. Cilostazol was found to be as effective as aspirin and clopidogrel in inhibiting platelet aggregation. Following the oral administration of aspirin and clopidogrel for 7 days, the bleeding time was significantly prolonged. In contrast, none of these QBT parameters were altered by the cilostazol treatment. This suggests that cilostazol has potent efficacy in inhibiting platelet aggregation without prolonging the bleeding time and changing the bleeding pattern.
Adult↗
Spondyloepiphyseal dysplasia congenita with absent femoral head.
Spondyloepiphyseal dysplasia congenita (SEDC), an inherited chondrodysplasia, occurs through a mutation in the COL2A1 gene encoding the type II procollagen alpha1 chain, proalpha1 (II). Recently, the authors studied two Korean patients with SEDC. Both these patients had short stature, os odontoideum with or without atlantoaxial instability, platyspondyly, and epiphyseal dysplasia limited to the femoral heads. The more seriously affected patient had shorter height (125 cm), atlantoaxial instability associated with os odontoideum, flat feet, and cleft palate, absence of the femoral head on radiographic and magnetic resonance imaging (MRI), and dislocated proximal femur. The less seriously affected patient was taller (145 cm) and had no atlantoaxial instability, absence of the femoral head on radiography with visible cartilage anlage on MRI, and subluxated cartilaginous femoral head. A mutation analysis was performed using direct sequencing. Two novel dominant mutations were found in the COL2A1 gene of these two patients: G277V and G238S, respectively. Although glycine was substituted with valine and serine in the proalpha1 (II) of these two patients, their phenotypes were significantly different in physical and radiologic evaluations.
Adolescent↗
Mesomelic dwarfism in pseudoachondroplasia.
Pseudoachondroplasia (PSACH) is associated with mutations in the cartilage oligomeric matrix protein (COMP) gene and the clinical characteristics include short stature, deformities of the extremities involving the epiphyses and metaphyses, early onset arthritis, and ligament laxity. PSACH has been considered a rhizomelic form of dwarfism. So far no previous report has described mesomelic shortening of the limbs in PSACH. We reviewed nine patients with a diagnosis of PSACH based on clinical and radiographic examination and mutation analysis of the COMP gene. The mean height in the adults was 116 cm. All patients showed mesomelic dwarfism. The average ratios of radial length to humeral length and tibial length to femoral length were 0.62 and 0.63, respectively. The tibia and the radius showed more severe bony deformity than the femur and humerus. The degree of short stature was related to the site of the mutation in the COMP gene, but there was no correlation between bony deformity and height or gene mutation.
Achondroplasia↗
Quantitative analysis of SMN1 gene and estimation of SMN1 deletion carrier frequency in Korean population based on real-time PCR.
Spinal muscular atrophy (SMA) is an autosomal recessive disorder, caused by homozygous absence of the survival motor neuron gene (SMN1) in approximately 94% of patients. Since most carriers have only one SMN1 gene copy, several SMN1 quantitative analyses have been used for the SMA carrier detection. We developed a reliable quantitative real-time PCR with SYBR Green I dye and studied 13 patients with SMA and their 24 parents, as well as 326 healthy normal individuals. The copy number of the SMN1 gene was determined by the comparative threshold cycle (Ct) method and albumin was used as a reference gene. The homozygous SMN1 deletion ratio of patients was 0.00 and the hemizygous SMN1 deletion ratio of parents ranged from 0.39 to 0.59. The deltadelta Ct ratios of 7 persons among 326 normal individuals were within the carrier range, 0.41-0.57. According to these data, we estimated the carrier and disease prevalence of SMA at 1/47 and 1/8,496 in Korean population, respectively. These data indicated that there would be no much difference in disease prevalence of SMA compared with western countries. Since the prevalence of SMA is higher than other autosomal recessive disorders, the carrier detection method using real-time PCR could be a useful tool for genetic counseling.
Adult↗
[Prevalence and associated factors of falls among people with Parkinson's disease].
PURPOSE: This study was done to identify the risk factors associated with falls among patients with Parkinson's Disease(PD). METHOD: A retrospective study design was used through the collection of physiological and physical health, and psychosocial functions. RESULTS: Of the 100 participants, fifty-nine (59%) reported one or more falls and seventy-one (71%) reported one or more near-falls. An average 34.7 falls and 150.3 near-falls were reported in the previous year per person. Stage of PD, foot problems, balance, fear of falling, and activities of daily living were significantly associated with an increased risk of falls. CONCLUSION: The findings confirm the high risk of falling in PD patients. Also these results have implications for developing fall prevention programs for PD patients.
Accidental Falls↗
Risk factors for falls among the community-dwelling elderly in Korea.
Community-based centres were surveyed to determine the frequency of and risk factors for falls among elderly Koreans. We examined fall-related risk factors, including physiological and physical health, psychosocial functions, self-reported physical capacity and activity, vision, and the use of medication, among 351 elderly people aged 65 years or older, with ambulatory. Forty-two per cent of elderly Korean subjects reported at least one episode of falling in the previous 12 months, 38% of whom had consequences that required either the attention of a physician or hospitalization. Factors significantly associated with an increased risk of falling were a restricted activity during the previous five years (adjusted OR 1.3), use of alternative therapy (adjusted OR 2.7), low knee flexor and extensor-muscle strength (adjusted OR 1.21 and 1.20), and poor balance with closed eyes (adjusted OR 8.32). We conclude that falls among older persons living in the community are common in Korea and that indicator of bad health and frailty or variables directly related to neuromuscular impairment are significant predictors of the risk of falling.
Accidental Falls↗
Fall prevention exercise program for fall risk factor reduction of the community-dwelling elderly in Korea.
A randomized comparison of pre-and post-experimental design was used to examine the effects of a fall prevention exercise program (FPEP) on muscle strength, ankle flexibility, balance, instrumental activities of daily living (IADLs), and depression for the community-dwelling elderly in Korea. Twenty-two subjects were assigned to an experimental group and twenty-three to a control group. The experimental group participated in a 4-day-per week FPEP of 8 weeks duration, twice a week by direct instruction and twice a week with videotaped instruction by the program instructor at each senior center. The eight-week FPEP turned out to be significantly effective in enhancing muscle strength, ankle flexibility and balance, and in reducing depression, after intervention among community-dwelling elderly in Korea. IADLs, however, was not changed by the intervention. Further research with a larger sample and longer follow up period is needed to expand our understanding about the effects of FPEP. Future study is also recommended to differentiate between the effects of FPEP by direct instruction and by videotaped.
Accidental Falls↗
Homozygous exon 4 deletion in parkin gene in a Korean family with autosomal recessive early onset parkinsonism.
The gene responsible for autosomal recessive parkinsonism, parkin, has recently been identified on chromosome 6q. It has been shown to be mutated in Japanese and European families, most of whom had early-onset parkinsonism. Here, we present a family with young-onset parkinsonism of an autosomal recessive inheritance. A homozygous exon 4 deletion in the parkin gene was found in 3 family members. To the best of the authors' knowledge, this is the first report in Korea of familial parkinsonism with the parkin gene mutation.
Exons↗
Identification of cartilage oligomeric matrix protein (COMP) gene mutations in patients with pseudoachondroplasia and multiple epiphyseal dysplasia.
Mutations in the cartilage oligomeric matrix protein (COMP) gene are responsible for two dominantly inherited skeletal dysplasias, pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED). Mutation analysis of the COMP gene in Korean patients with PSACH and MED was performed. All nine patients with PSACH had mutations in the COMP gene, while three of the five patients with MED had detectable COMP mutations. Eight mutations, including three novel mutations, were identified in the COMP gene in the patients with PSACH and MED. Six mutations were found within the calmodulin-like repeats (CLRs) domain, especially in the seventh CLR and the other two mutations were in exon 16 outside of CLRs, which encode the C-terminal globular domain. Among the three novel mutations, two were missense mutations (Asp473Tyr, Asp482His) and one was a consecutive two-codon deletion, delAspAsp(469-473) in the five consecutive aspartic acid residues. All three novel mutations produced the PSACH phenotype.
Adolescent↗
The apolipoprotein E epsilon4 haplotype is an important predictor for recurrence in ischemic cerebrovascular disease.
OBJECTIVE: To determine whether a specific apolipoprotein E (APOE) allele is a predictor for ischemic cerebrovascular disease (ICVD). BACKGROUND: The role of APOE in atherosclerosis has been a focus of intensive research. The APOE epsilon4 allele is overrepresented in Alzheimer's disease, atherosclerosis, ischemic heart disease, and ICVD. Also, epsilon4 carriers have higher cholesterol levels than non-epsilon4 carriers. METHODS: We performed a prospective, longitudinal study on patients who have ICVD. The patients were recruited from St. Mary Hospital, Korea, and investigated for ICVD through interviews and by reviewing their medical records and neuroimaging studies. APOE genotypes were determined for each patient. RESULTS: 20 of the 91 enrolled patients had recurrent ICVD, yielding a 3-year cumulative recurrence rate of 22%. Carriers of the epsilon4 allele had a 3-year recurrence rate of 53%, as compared with only 16% for patients who had the APOE non-epsilon4 allele (the risk ratio was 4.11; the 95% CI was 1.49-11.32; P<0.01). CONCLUSIONS: Our results make possible the identification of patients with ICVD who are at high risk for recurrence by assessing their APOE genotype. Also, this data might be clinically useful in methods for assessing potential strategies for prevention.
Aged↗
Decreased striatal dopamine transporter binding in a patient with extrapontine myelinolysis.
We describe the case of a 61-year-old woman who developed extrapontine myelinolysis (EPM) with parkinsonism. Decreased striatal dopamine transporter binding assessed by [(123)I]N-(3-iodopropen-2-yl)-2beta-carbomethoxy-3beta-(4-chlorophenyl) tropane and single photon emission computed tomography ([(123)I]IPT) SPECT) were observed in the patient, suggesting that osmotic injury causes the demyelination of nigrostriatal dopaminergic neurons and that such injury may be involved in the pathogenesis of EPM with parkinsonism.
Antiparkinson Agents↗
Periodic limb movement during sleep developed after pontine lesion.
We describe 2 patients who suffered a pontine infarction and subsequently developed periodic leg movement (PLM). The temporal relationship between a stroke and subsequent PLM, as well as the absence of sleep-related disorders in patients' histories, favors the argument of a cause-and-effect relationship, with the observed association providing evidence for an anatomic substrate for PLM.
Female↗
Proton MR spectroscopic changes in Parkinson's diseases after thalamotomy.
To investigate whether there are significant changes in regional brain metabolism in patients with Parkinson's disease before and after thalamotomy using proton magnetic resonance spectroscopy (1H MRS). Fifteen patients underwent 15 stereotactic thalamotomies for control of medically refractory parkinsonian tremor. Single-voxel 1H MRS was carried out on a 1.5 T unit using stimulated-echo acquisition mode (STEAM) sequence (TR/TM/TE, 2000/14/20 ms). Spectra were obtained from substantia nigra, thalamus and putamen areas with volumes of interests (7-8 ml) in patients before and after the surgery. Metabolite ratios of NAA/Cho, NAA/Cr and Cho/Cr were calculated from relative peak area measurements. We evaluated alterations of metabolite ratios in brain metabolism in Parkinson's disease patients with clinical outcome following thalamotomy. NAA/Cho ratios showed generally low levels in substantia nigra and thalamus in Parkinson's disease patients with clinical improvement following thalamotomy. In 80% (12/15) patients, decreased NAA/Cho ratios were observed from the selected voxels in substantia nigra after thalamic surgery (P<0.05). The ratios were also significantly decreased in thalamus in 67% (10/15) patients with clinical improvement (P<0.05). Our results suggest that NAA/Cho ratio may be a valuable criterion for evaluation of Parkinson's disease patients with the clinical improvement following surgery. 1H MRS may be a useful utility for the aid in better understanding the pathophysiologic process in Parkinson's disease patients on the basis of the variation of NAA/Cho ratio.
Adult↗
Idiopathic foot dystonia treated with intramuscular phenol injection.
We describe a patient who developed involuntary, painless, dystonic contraction of the left foot on walking. The patient had been treated with botulinum toxin A without benefit. Examination showed that walking brought on a spasmodic twisting of the left foot, with extension and eversion of the ankle. The patient underwent an intramuscular phenol injection, which abolished the foot dystonia. This case suggests that intramuscular phenol treatment may be an alternative for patients where botulinum toxin was unable to relieve the dystonias.
Botulinum Toxins, Type A↗
A multicenter randomized crossover multiple-dose comparison study of arotinolol and propranolol in essential tremor.
BACKGROUND: A new medication is needed to treat essential tremor. Preliminary evidence suggests that arotinolol may be effective in the treatment of this disorder. OBJECTIVE: To study the effect of arotinolol and propranolol in a crossover, multiple dose comparative trial of patients with essential tremor. PATIENTS AND METHODS: One hundred and seventy-five outpatients, with essential tremor were included in the study; 161 patients completed the study. Patients were identically evaluated at eight consecutive visits. The study consisted of two treatments, which were arranged according to a crossover design that evaluated the dose of each (arotinolol 10 mg per day and propranolol 40 mg per day, arotinolol 20 mg per day and propranolol 80 mg per day, arotinolol 30 mg per day and propranolol 160 mg per day). Each course of treatment lasted 6 weeks. Major outcome evaluations consisted of a self-reported disability scale, and motor performance score obtained before drug intake and 14 days after each treatment. The treatment effects were evaluated by analysis of variance using the Hills-Armitage test. RESULTS: Arotinolol was found to be as effective as propranolol at reducing tremor. Drug effects as evaluated using motor-task performance scores revealed that arotinolol had a more significant effect than propranolol. CONCLUSIONS: Arotinolol may be more useful than propranolol for the treatment of essential tremor.
Adrenergic beta-Antagonists↗
Flumazenil-induced ballism.
Flumazenil, an imidazobenzodiazepine, is the first benzodiazepine antagonist and is being used to reverse the adverse pharmacological effects of benzodiazepine. There have been a few reports on the central nevous system side effects with its use. We report a patient with generalized ballism following administration of flumazenil. The mechanism through which flumazenil induced this symptom is unknown. It is conceivable that flumazenil may antagonize the GABA-benzodiazepine receptor complex and induce dopamine hypersensitivity, thus induce dyskinesic symptoms.
Diagnosis, Differential↗
Rapid detection of duplication/deletion of the PMP22 gene in patients with Charcot-Marie-Tooth disease Type 1A and hereditary neuropathy with liability to pressure palsy by real-time quantitative PCR using SYBR Green I dye.
Mutations and altered gene dosage of the peripheral myelin protein (PMP22) gene in chromosome 17p11.2-12 are the main causes for hereditary neuropathies, accounting for approximately 70% of all cases. Patients with duplication of the PMP22 develop Charcot-Marie-Tooth disease type 1A (CMT1A) and deletion of one PMP22 allele leads to hereditary neuropathy with liability to pressure palsy (HNPP). Twenty patients with CMT1A, 17 patients with HNPP, and 18 normal family members and 28 normal controls were studied by real-time quantitative PCR using SYBR Green I on the ABI 7700 Sequence Detection System. The copy number of the PMP22 gene was determined by the comparative threshold cycle method and the albumin was used as a reference gene. The PMP22 duplication ratio ranged from 1.45 to 2.06 and the PMP22 deletion ratio ranged from 0.42 to 0.64. The PMP22 ratio in normal controls, including normal family members, ranged from 0.85 to 1.26. No overlap was found between patients with CMT1A or patients with HNPP and normal controls. This method is fast, highly sensitive, specific, and reproducible in detecting PMP22 duplication and deletion in CMT1A and HNPP patients, respectively.
Benzothiazoles↗