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1.
Journal of Korean Society of Spine Surgery ; : 69-74, 2015.
Article in Korean | WPRIM | ID: wpr-22239

ABSTRACT

STUDY DESIGN: A retrospective study. OBJECTIVES: We analyzed the risk factors and relevance of lumbar lordosis on the incidence of adjacent segment disease after posterior lumbar interbody fusion. SUMMARY OF LITERATURE REVIEW: Maintaining lumbar sagittal balance is important for decreasing the incidence of adjacent segment disease after posterior lumbar interbody fusion. MATERIALS AND METHODS: Among the patients who had undergone posterior lumbar interbody fusion of 1 or 2 levels between August 2001 and October 2008, we analyzed 153 patients who were available for at least three years of follow-up; among the subjects, 115 were males and 38 were females. Mean age among the patients at the time of initial surgery was 60.3 (range, 41-82) and mean followup period was 5.6 years (range, 3-11). The causative diseases were spinal stenosis in 78 cases, degenerative spondylolisthesis in 51 cases, isthmic spondylolisthesis in 23 cases, and degenerative disc disease in 1 case. At last follow-up, there were 52 cases (33.9%) of adjacent segment disease. Among them were found 21 cases (40.4%) of disc degeneration, 17 cases (32.7%) of instability, and 14 cases (26.9%) of simultaneous disc degeneration and instability. A total of 10 patients (6.5%) underwent a revision operation, and the mean period from initial to revision operation was 5.5 years (range, 3.1-10.3). We analyzed the correlation between risk factors of adjacent segment disease and the incidence of the disease depending on the gap between lumbar lordosis and pelvic incidence, and compared the clinical results of the 2 groups using modified Whitecloud classification. RESULTS: The incidence of adjacent segment disease was not statistically significant for patient age, sex, BMD, degree of obesity, causative disease, and the level of previous surgery. However, the incidence of adjacent segment disease was statistically higher in patients who had more than 9 degrees gap between lumbar lordosis and pelvic incidence (p=0.013). In our analysis of clinical results, 63.5% of the group of patients who developed adjacent segment disease and 80.2% of the group without adjacent segment disease had good or satisfactory results (p=0.031). CONCLUSIONS: Maintaining lumbar sagittal balance is important for decreasing the incidence of adjacent segment disease after posterior lumbar interbody fusion, and close observation is needed in patients with 9 or more degrees gap between lumbar lordosis and pelvic incidence.


Subject(s)
Animals , Female , Humans , Male , Classification , Follow-Up Studies , Incidence , Intervertebral Disc Degeneration , Lordosis , Obesity , Retrospective Studies , Risk Factors , Spinal Stenosis , Spondylolisthesis
2.
Korean Journal of Anesthesiology ; : 172-174, 2013.
Article in English | WPRIM | ID: wpr-59803

ABSTRACT

Tapia's syndrome is the palsy of the 10th and 12th cranial nerves, resulting in ipsilateral paralysis of the vocal cord and tongue. It is a rare complication which is related to the anesthetic airway management and positioning of the patient's head during the surgery. We describe a patient with a postoperative unilateral Tapia's syndrome, after general anesthesia, with uncomplicated endotracheal intubation. The patient's symptoms improved gradually for three months.


Subject(s)
Humans , Airway Management , Anesthesia, General , Cranial Nerves , Head , Intubation, Intratracheal , Paralysis , Tongue , Vocal Cords
3.
Korean Journal of Anesthesiology ; : 251-253, 2013.
Article in English | WPRIM | ID: wpr-79000

ABSTRACT

Although fentanyl-induced cough is generally transient and benign, it can give rise to serious problems in patients to whom increasing intracranial, intraocular or intraabdominal pressures may create dangerous situations. This case demonstrates aspiration pneumonia as a complication, exhibiting severe cough induced by intravenous injection of fentanyl.


Subject(s)
Humans , Cough , Fentanyl , Injections, Intravenous , Pneumonia , Pneumonia, Aspiration , Vomiting
4.
Journal of Clinical Neurology ; : 21-25, 2013.
Article in English | WPRIM | ID: wpr-152652

ABSTRACT

BACKGROUND AND PURPOSE: Huntington's disease (HD) is an autosomal-dominant inherited neurodegenerative disorder. Genetic analysis of abnormal CAG expansion in the IT15 gene allows disease confirmation even in the preclinical stage. However, because there is no treatment to cure or delay the progression of this disease, monitoring of biological markers that predict progression is warranted. METHODS: FDG-PET was applied to 13 patients with genetically confirmed HD in the early stage of the disease. We recorded the initial and follow-up statuses of patients using the Independence Scale (IS) of the Unified Huntington's Disease Rating Scale. The progression rate (PR) was calculated as the annual change in the IS. The patients were divided into two groups with faster and slower progression, using the median value of the PR as the cut-off. FDG-PET data were analyzed using regions of interest, and compared among the two patient groups and 11 age- and sex-matched controls. RESULTS: The mean CAG repeat size in patients was 44.7. The CAG repeat length was inversely correlated with the age at onset as reported previously, but was not correlated with the clinical PR. Compared with normal controls, hypometabolism was observed even at very early stages of the disease in the bilateral frontal, temporal, and parietal cortices on FDG-PET. The decreases in metabolism in the bilateral frontal, parietal, and right temporal cortices were much greater in the faster-progression group than in the slower-progression group. CONCLUSIONS: A decrease in cortical glucose metabolism is suggested as a predictor for identifying a more rapid form of progression in patients with early-stage HD.


Subject(s)
Humans , Biomarkers , Cerebral Cortex , Follow-Up Studies , Glucose , Huntington Disease , Neurodegenerative Diseases
5.
Anesthesia and Pain Medicine ; : 367-371, 2012.
Article in English | WPRIM | ID: wpr-41593

ABSTRACT

BACKGROUND: We hypothesized that intermittent pneumatic compression device (IPCD) compression system might induce more decreases on the core temperature by increasing the lower extremity blood flow. This study investigated the effects of IPCD compression system on the body temperature in patients undergoing minor surgery under propofol-remifentanil anesthesia. METHODS: Forty female patients were randomly assigned to treat with either elastic stockings (ES group, n = 20) or IPCD (IPCD group, n = 20). Anesthesia was induced and maintained with propofol and remifentanil. The core temperature and arteriovenous shunt in the lower leg were measured using esophageal temperature and the calf to toe skin-surface temperature gradient, respectively. The measurements were taken at 15-minute intervals immediately after anesthesia induction (baseline values, T0) until the end of the surgery. RESULTS: During the study period, the core temperature and skin temperature gradient were comparable between the two groups. The core temperature decreased from 60 min in both groups. And, skin-surface temperature gradient decreased from 15 min in the IPCD group and 30 min in the ES group after anesthesia induction, without intergroup differences across time. CONCLUSIONS: This study demonstrated that the IPCD system did not affect the change in the core temperature when compared to the ES, in patients undergoing minor surgery during propofolremifentanil anesthesia. Thus, the IPCD system could be safely used during propofol-remifentanil anesthesia, without increasing the risk of the intraoperative hypothermia.


Subject(s)
Female , Humans , Anesthesia , Body Temperature , Hypothermia , Leg , Lower Extremity , Piperidines , Propofol , Skin Temperature , Stockings, Compression , Minor Surgical Procedures , Toes
6.
Korean Journal of Anesthesiology ; : 511-514, 2011.
Article in English | WPRIM | ID: wpr-106330

ABSTRACT

We report a case of an erroneously elevated bispectral index (BIS) during robot assisted thyroidectomy using an electromyographic endotracheal tube (EMG tube), which is safe and useful for laryngeal electromyographic monitoring. Ten minutes after start of the operation, a sudden increase of BIS value up to 98 was noticed. The BIS values were not decreased to < 65 with supplemental anesthetics. The anesthetic method was changed from total intravenous anesthesia to balanced anesthesia. The BIS sensor and monitor were changed and other models were used. These interventions did not alter BIS values. BIS levels remained between 60 and 70 throughout the main procedure and intermittently increased to the mid-90s without any trace of poor signal quality. At the end of the surgery, the BIS values returned to normal range. The patient did not complain of intraoperative recall. Knowledge of potential interference from the use of an EMG tube must be considered when interpreting BIS.


Subject(s)
Humans , Anesthesia, Intravenous , Anesthetics , Balanced Anesthesia , Organothiophosphorus Compounds , Reference Values , Thyroidectomy
7.
Anesthesia and Pain Medicine ; : 182-185, 2011.
Article in Korean | WPRIM | ID: wpr-163130

ABSTRACT

Central venous catheterization is of vital importance in the management of critically ill neonates and also premature infants for total parenteral nutrition, hemodynamic monitoring, anesthetic care, transfusion or the administration of a few vasoactive drugs. Various complications of this procedure have been reported, such as arterial puncture, pneumothorax, cardiac tamponade, and catheter related kinking or knotting. Due to narrow safety margins, these complications are more dangerous in extremely premature infants compared to adults. We present a case of left subclavian venous catheterization complicated by U-shaped intravascular catheter kinking in premature infant which was successfully repositioned by insertion of a new guidewire through the previous catheter without secondary skin puncture.


Subject(s)
Adult , Humans , Infant, Newborn , Cardiac Tamponade , Catheterization , Catheterization, Central Venous , Catheters , Central Venous Catheters , Critical Illness , Hemodynamics , Infant, Extremely Premature , Infant, Premature , Parenteral Nutrition, Total , Pneumothorax , Punctures , Skin
8.
Journal of Korean Medical Science ; : 1499-1505, 2010.
Article in English | WPRIM | ID: wpr-14303

ABSTRACT

Transcranial direct current stimulation (tDCS) is associated with enhancement or weakening of the NMDA receptor activity and change of the cortical blood flow. Therefore, repeated tDCS of the brain with cerebrovascular injury will induce the functional and histologic changes. Sixty-one Sprague-Dawley rats with cerebrovascular injury were used. Twenty rats died during the experimental course. The 41 rats that survived were allocated to the exercise group, the anodal stimulation group, the cathodal stimulation group, or the control group according to the initial motor function. Two-week treatment schedules started from 2 days postoperatively. Garcia, modified foot fault, and rota-rod performance scores were checked at 2, 9, and 16 days postoperatively. After the experiments, rats were sacrificed for the evaluation of histologic changes (changes of the white matter axon and infarct volume). The anodal stimulation and exercise groups showed improvement of Garcia's and modified foot fault scores at 16 days postoperatively. No significant change of the infarct volume happened after exercise and tDCS. Neuronal axons at the internal capsule of infarct hemispheres showed better preserved axons in the anodal stimulation group. From these results, repeated tDCS might have a neuroprotective effect on neuronal axons in rat stroke model.


Subject(s)
Animals , Rats , Axons/pathology , Cerebral Cortex/physiology , Disease Models, Animal , Electric Stimulation , Motor Activity/physiology , Rats, Sprague-Dawley , Stroke/metabolism
9.
The Journal of the Korean Orthopaedic Association ; : 752-759, 2008.
Article in Korean | WPRIM | ID: wpr-651344

ABSTRACT

PURPOSE: To evaluate midterm results after microfracture in osteoarthritic knees. MATERIALS AND METHODS: Between October 1997 and April 2006, 67 osteoarthritic knees, with minimum 4-year follow-up, underwent microfracture. Baumgaertner scores were evaluated to determine clinical results. Radiological results were assessed based on joint space widening and improvement of mechanical axis deviation. Joint space widening was calculated by comparing the preoperative joint space with the final follow-up joint space. Varus deformity was evaluated on orthoroentgenogram and recorded as a percentile of the point at which the mechanical axis intersected a line extending from the center of the knee to medial border of the medial tibial condyle. The figure was expressed as MA%. RESULTS: The average Baumgaertner score at final follow-up was 7.0. The average joint space changed from 2.74 mm to 4.22 mm on AP radiographs and from 1.91 mm to 3.85 mm on lateral radiographs. Average MA% was 57.5% preoperatively and 45.8% at final follow-up. Clinical and radiological improvements were maintained in most cases followed for more than 4 years. Four patients had total knee arthroplasty after an average of 4.1 years. CONCLUSION: We noted pain relief, joint space widening, and improvement of mechanical axis after microfracture for degenerative arthritis of the knee. Maintenance of clinical and radiological improvement was observed at midterm follow-up.


Subject(s)
Humans , Arthroplasty , Arthroscopy , Axis, Cervical Vertebra , Congenital Abnormalities , Follow-Up Studies , Joints , Knee , Osteoarthritis
10.
The Journal of the Korean Orthopaedic Association ; : 207-212, 2008.
Article in Korean | WPRIM | ID: wpr-645138

ABSTRACT

PURPOSE: To analyze the pre- and postoperative posterior tibial slope angle (PSA) of performing cruciate-retaining total knee arthroplasty (TKA) and to identify the ideal value of the PSA in relation to the clinical results. MATERIALS AND METHODS: From June 1999 to May 2005, 202 TKA with a NexGen(R) cruciate-retaining knee were performed in 160 patients. The mean follow-up period was 39.8 months. The pre- and postoperative PSA referenced by the proximal tibial medullary canal (PSA-A) and the proximal tibial anterior cortex (PSA-B) were measured by two independent observers. The knee and function scoring system of the American Knee Society and the range of motion of the knee at the last follow-up were evaluated as the clinical results. RESULTS: The mean PSA-A was 11.4+/-4.8degrees preoperatively and 6.0+/-2.8degrees postoperatively, and the mean PSA-B was 13.6+/-4.9degrees preoperatively and 8.1+/-2.9degrees postoperatively. The difference between the pre- and postoperative PSA increased as the preoperative PSA-A changed from 6.0degrees and the PSA-B changed from 8.1degrees; these findings showed statistical significance based on a simple linear regression (PSA-A: r= 0.837, p=0.000; PSA-B: r=0.834, p=0.000). The knee and function score of American Knee Society improved respectively from 62.9 and 55.8, preoperatively, to 97.4 and 89.7 respectively, at the last follow-up. The range of motion of the knee joint was 128.0degrees preoperatively and 129.7degrees at the last follow-up. CONCLUSION: In cruciate retaining total knee arthroplasty, PSA-A is mostly distributed within 3.2-8.8degrees, and a reasonable range of PSA-A is 6.0+/-2.8degrees.


Subject(s)
Humans , Arthroplasty , Follow-Up Studies , Knee , Knee Joint , Linear Models , Range of Motion, Articular
11.
Journal of the Korean Knee Society ; : 7-15, 2008.
Article in Korean | WPRIM | ID: wpr-730971

ABSTRACT

PURPOSE: To analyze the causes and clinical outcomes associated with re-revision total knee arthroplasty. MATERIALS AND METHODS: Eighteen cases of re-revision total knee arthroplasty (TKA) were performed between June 1996 and September 2006. The average patient age was 69.8 years, and the average follow-up period was 3.4 years. We evaluated the time interval between revision and re-revision arthroplasty and the causes of re-revision. Clinical outcomes were assessed using the Hospital for Special Surgery (HSS) knee rating score and determining the range of motion in the knee. RESULTS: The mean interval between revision and re-revision arthroplasty was 9 years 1 month. Causes of re-revision included 9 cases of polyethylene wear, 6 cases of aseptic loosening, 1 case of infection, and 2 cases of other causes. The average HSS score was 89.1, and the average range of motion was 111.1 degrees. For 5 cases of revision undertaken secondary to infected TKA, the interval between revision and re-revision arthroplasty was 9 years 3 months, and the cause of re-revision surgery was aseptic loosening in all cases. CONCLUSION: The main causes of re-revision surgery were polyethylene wear and aseptic loosening. Reasonable restoration of function was achieved in re-revision arthroplasty using appropriately selected implants, metal augmentation, structural allografts, and stems. When revising an infected TKA, it is important to achieve structural stability in the implant because of the possibility of late aseptic loosening.


Subject(s)
Humans , Arthroplasty , Follow-Up Studies , Knee , Polyethylene , Range of Motion, Articular , Transplantation, Homologous
12.
Experimental & Molecular Medicine ; : 294-303, 2008.
Article in English | WPRIM | ID: wpr-205427

ABSTRACT

Even though there is no direct evidence to prove the cellular and molecular changes induced by radiofrequency (RF) radiation itself, we cannot completely exclude the possibility of any biological effect of mobile phone frequency radiation. We established a carousel-type exposure chamber for 849 MHz or 1763 MHz of mobile phone RF radiation to expose RF to the heads of C57BL mice. In this chamber, animals were irradiated intermittently at 7.8 W/kg for a maximum of 12 months. During this period, the body weights of 3 groups-sham, 849 MHz RF, and 1763 MHz RF-did not show any differences between groups. The brain tissues were obtained from 3 groups at 6 months and 12 months to examine the differences in histology and cell proliferation between control and RF exposure groups, but we could not find any change upon RF radiation. Likewise, we could not find changes in the expression and distribution of NeuN and GFAP in hippocampus and cerebellum, or in cell death by TUNEL assay in RF exposure groups. From these data, we conclude that the chronic exposure to 849 MHz and 1763 MHz RF radiation at a 7.8 W/kg specific absorption rate (SAR) could not induce cellular alterations such as proliferation, death, and reactive gliosis.


Subject(s)
Animals , Mice , Apoptosis/radiation effects , Body Weight/radiation effects , Brain/pathology , Cell Proliferation/radiation effects , Cell Phone , Dose-Response Relationship, Radiation , Gliosis/etiology , In Situ Nick-End Labeling , Mice, Inbred C57BL , Nerve Tissue Proteins/biosynthesis , Proliferating Cell Nuclear Antigen/biosynthesis , Radio Waves/adverse effects
13.
Journal of the Korean Knee Society ; : 63-68, 2007.
Article in Korean | WPRIM | ID: wpr-730842

ABSTRACT

PURPOSE: To analyze clinical results of the cases diagnosed and treated as acute patella dislocation. MATERIALS AND METHODS: Thirteen cases diagnosed as acute patella dislocation between March 2000 and May 2006, were enrolled for this study. The mean follow-up period was 28 months. Preoperatively plain radiographs and MRIs were taken, and operative treatment was performed in 11 cases with osteochondral fragments or patella malalignment after reduction. Clinical results were assessed by the range of motion and the Lysholm score. For radiologic assessment, patella tilt by lateral patellofemoral angle and patella subluxation by congruence angle were observed. RESULTS: In all cases(100%), bone contusion was observed on MRIs. Osteochodral injury was found in six cases (46.1%). The postoperative mean range of motion was from 0 degree to 130 degrees, and the mean Lysholm score was 86 points. The congruence angle was recovered to -10.9 degrees from 1.7 degrees in 12 cases except one case. No case presented lateral patella tilt when the lateral patellofemoral angle was measured. CONCLUSION: Bone contusion on MRIs was helpful in diagnosing acute traumatic patella dislocation. Operative treatment is considered necessary for the cases with remained patellofemoral malalignment or osteochondral fragments after reduction.


Subject(s)
Contusions , Diagnosis , Joint Dislocations , Follow-Up Studies , Magnetic Resonance Imaging , Patella , Range of Motion, Articular
14.
Journal of Korean Medical Science ; : 946-951, 2007.
Article in English | WPRIM | ID: wpr-92081

ABSTRACT

Familial hypokalemic periodic paralysis (HOPP) is a rare autosomal-dominant disease characterized by reversible attacks of muscle weakness occurring with episodic hypokalemia. Mutations in the skeletal muscle calcium (CACNA1S) and sodium channel (SCN4A) genes have been reported to be responsible for familial HOPP. Fifty-one HOPP patients from 20 Korean families were studied to determine the relative frequency of the known mutations and to specify the clinical features associated with the identified mutations. DNA analysis identified known mutations in 12 families: 9 (75%) were linked to the CACNA1S gene and 3 (25%) to the SCN4A gene. The Arg528His mutation in the CACNA1S gene was found to be predominant in these 12 families. Additionally, we have detected one novel silent exonic mutation (1950C>T) in the SCN4A gene. As for a SCN4A Arg669His mutation, incomplete penetrance in a woman was observed. Characteristic clinical features were observed both in patients with and without mutations. This study presents comprehensive data on the genotype and phenotype of Korean families with HOPP.


Subject(s)
Adolescent , Adult , Child , Child, Preschool , Humans , Infant , Calcium Channels/genetics , Genotype , Hypokalemic Periodic Paralysis/genetics , Mutation , Phenotype , Sodium Channels/genetics
15.
The Journal of the Korean Orthopaedic Association ; : 398-402, 2005.
Article in Korean | WPRIM | ID: wpr-645514

ABSTRACT

PURPOSE: To compare radiologic measurements of femoral and tibial component position in the total knee replacement (TKR) using computer-assisted surgery (CAS) with those of conventional TKR. MATERIALS AND METHODS: Two groups of 40 TKRs each were operated on using a CT-free navigation system or the conventional technique. Patients in both groups were matched according to age, gender, diagnosis, prosthesis and PCL retaining or substitution. We measured femoral component frontal (alpha angle) and sagittal angle (gamma angle), tibial component frontal (beta angle) and sagittal angle (delta angle). We also studied whether femoral notch was present or not. RESULTS: There were no significant differences in alpha angle, beta angle, delta angle and femoral notch between CAS and conventional TKR (p>0.05). The mean delta angle in the group of TKRs using CAS was 0.28+/-1.96 degrees, and in the group of conventional TKRs was 2.39+/-2.73degrees(p<0.0001). This difference was statistically significance. CONCLUSION: Our study has shown that there were no significant differences in alpha angle, beta angle, delta angle and incidence of femoral notching between CAS TKR and conventional TKR. Gamma angle was different statistically between CAS TKR and conventional TKR. The CAS afforded to precisely place femoral component in sagittal plan than conventional method.


Subject(s)
Humans , Arthroplasty , Arthroplasty, Replacement, Knee , Diagnosis , Incidence , Knee , Prostheses and Implants , Surgery, Computer-Assisted
16.
The Journal of the Korean Rheumatism Association ; : 442-446, 2004.
Article in Korean | WPRIM | ID: wpr-175486

ABSTRACT

Systemic sclerosis is a rare, autoimmune, connective tissue disorder which involves skin and other internal organs. However, central nervous system involvement including seizure, is a very rare event. This 29-year-old woman experienced repeated episodes of typical generalized tonic clonic seizure. T2 weighted and flare images of magnetic resonance image showed a mass-like high signal intensity lesion in the left temporal lobe. Atypical spikes and waves were present in a eclectroencephalogram. Her seizure episodes were controlled with anticonvulsants, corticosteroids and immunosuppresants. We report a rare case of systemic sclerosis which showed central nervous system involvement.


Subject(s)
Adult , Female , Humans , Adrenal Cortex Hormones , Anticonvulsants , Central Nervous System , Connective Tissue , Magnetic Resonance Imaging , Scleroderma, Diffuse , Scleroderma, Systemic , Seizures , Skin , Temporal Lobe
17.
Journal of the Korean Neurological Association ; : 183-190, 2003.
Article in Korean | WPRIM | ID: wpr-109684

ABSTRACT

BACKGROUND: Intracerebral hemorrhage (ICH) is associated with a considerable proportion of stroke and head injuries, but except for supportive care, there is no medical therapy available. Transplantation of human neural stem cells (NSCs) can be used to reduce behavioral deficit in experimental ischemic infarct model. However, effect of stem cell transplantation in experimental intracerebral hemorrhage (ICH) is unknown. We hypothesized that NSCs could migrate and differentiate into neurons or glial cells, and improve functional outcome in ICH. METHODS: Experimental ICH was made by intrastriatal administration of bacterial collagenase in adult rats. Animals were randomized to receive intravenously either immortalized Lac-Z positive human NSCs (5x1 06 in 500microL, n=15) or same volume of saline (n=12) on the following day. Animals were evaluated for 8 weeks after surgery with behavioral test battery. After 8 weeks, animals were sacrificed and the brains were sectioned. Transplanted NSCs were detected by X-gal histochemistry or beta-gal immunohistochemistry, and differentiation of grafted NSCs were evaluated by double labeling of GFAP, NeuN, or neurofilament. RESULTS: Transplanted NSCs migrated to the side of peri-hematomal areas, and differentiated into neurons and astrocytes. NSCs injection group showed improved performances on rotarod test after 2 weeks and on limb placing test after 5 weeks compared with control group (p<0.05) and these effect persisted up to 8 weeks. CONCLUSIONS: Intravenously injected NSCs enter rat brain with ICH, and differentiate into astrocytes or neuronal cell, which lead to functional recovery. These findings show the possibility that NSCs can be used to reduce neurological deficits in the experimental ICH.


Subject(s)
Adult , Animals , Humans , Rats , Astrocytes , Brain , Cerebral Hemorrhage , Collagenases , Craniocerebral Trauma , Extremities , Immunohistochemistry , Neural Stem Cells , Neuroglia , Neurons , Rotarod Performance Test , Stem Cell Transplantation , Stroke , Transplants
18.
Journal of the Korean Neurological Association ; : 199-203, 2003.
Article in Korean | WPRIM | ID: wpr-109681

ABSTRACT

We report a 61-year-old man presented with hyperventilation in the absence of alteration of consciousness. Brain MRI showed diffuse T2-high signal intensities in the white matter of the bilateral hemispheres and brainstem with some focal enhancements without mass effect or edema. Methionine PET demonstrated hypermetabolism in the right thalamus and cerebellum. Primary central nervous system lymphoma (PCNSL) was confirmed pathologically by stereotaxic biopsy. PCNSL can take the form of leukoencephalopathy in MRI, and methionine PET would be helpful for the differentiation of PCNSL from non-tumorous conditions.


Subject(s)
Humans , Middle Aged , Biopsy , Brain , Brain Stem , Central Nervous System , Cerebellum , Consciousness , Diagnosis, Differential , Edema , Hyperventilation , Leukoencephalopathies , Lymphoma , Magnetic Resonance Imaging , Methionine , Thalamus
19.
Journal of the Korean Neurological Association ; : 311-314, 2003.
Article in Korean | WPRIM | ID: wpr-69030

ABSTRACT

We describe a unique patient with progressive external ophthalmoplegia, intestinal pseudo-obstruction, and neurogenic bladder. Genetic study in this patient shows point mutation at T8356C, the locus known as that of myoclonic epilepsy with ragged-red fibers. To the best of our knowledge, this is the first report of a mitochondrial syndrome consisting of intestinal pseudo-obstruction, neurogenic bladder, and progressive external ophthalmoplegia, point mutation at T8356C. We suggest that this could comprise a new mitochondrial disease rather than a new variant of mitochondrial neurogastrointestinal encephalomyopathy.


Subject(s)
Humans , Intestinal Pseudo-Obstruction , MERRF Syndrome , Mitochondrial Diseases , Ophthalmoplegia, Chronic Progressive External , Point Mutation , Urinary Bladder, Neurogenic
20.
Journal of the Korean Neurological Association ; : 379-384, 2002.
Article in Korean | WPRIM | ID: wpr-177620

ABSTRACT

BACKGROUND: Approximately 5 to 10% of amyotrophic lateral sclerosis (ALS) patients have recorded family history (FALS) and in most cases, the pattern of inheritance is autosomal dominant (DFALS). Twenty percent of DFALS families are linked to chromosome 21q22.1, which is associated to a mutation in the Cu/Zn superoxide dismutase (SOD1) gene. However, these cases, especially with SOD1 gene mutations have not yet been reported in Korea. We investigated the clinical features of familial ALS pedigrees and screened the SOD1 gene in search of potential mutations. METHODS: The clinical histories and neurological findings of the family members were obtained. Genomic DNA was extracted from leukocytes of whole blood samples and PCR and direct sequencing analyzed the coding region of the SOD1 gene. RESULTS: Five affected members in a three-generation family exhibited early onset and rapid progression. The family has a novel missense mutation in the SOD1 gene, which was heterozygous for point mutation GGC to GTT, causing a substitution of valine for glycine at codon 10 (Gly10Val) in exon 1. CONCLUSIONS: Familial ALS with a novel Gly10Val mutation in the SOD1 gene showed severe clinical features. The mutation lies in a region involved in a dimer contact in the third-dimensional structure of the SOD1 protein. This study is the first report of familial ALS cases in Korea and contributes to expand the number of ALS-associated SOD1 gene mutations.


Subject(s)
Humans , Amyotrophic Lateral Sclerosis , Clinical Coding , Codon , DNA , Exons , Glycine , Korea , Leukocytes , Mutation, Missense , Point Mutation , Polymerase Chain Reaction , Superoxide Dismutase , Valine , Wills
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