OBJECTIVE: Fragile X syndrome is the most common form of familial mental retardation, attributable to (CGG)n expansion in the FMR1 gene. This study was undertaken to ascertain the distribution of FMR1 CGG repeat in the general Korean women and to identify ethnic difference in FMR1 CGG repeat number. Material and METHOD: Between January 1999 and December 1999, we evaluated 1,000 low risk women who visited Gachon Medical School Hospital. DNA samples were extracted from the venous bloods by routine methods, and G-C specific Polymerase Chain Reaction (PCR)s were performed to evaluate FMR1 CGG repeat number. RESULTS: Mean FMR1 CGG repeat number was 26.9 (6-50), single PCR bands were detected in 776 cases (77.7%). There were two more bands in 22.3% of the cases. Most of the cases are located between 21 and 35 repeats, especially 21-25 repeats. The pattern of distribution of CGG repeat is dispersed. In 13 cases, we could not obtain the PCR results. CONCLUSION: Low risk of transmission rate of the FRX in Korea can be expected.
Alleles* ; Blotting, Southern ; DNA ; Female ; Fragile X Syndrome ; Humans ; Intellectual Disability ; Korea ; Polymerase Chain Reaction ; Schools, Medical

No abstract available.
Craniocerebral Trauma* ; Head* ; Hematoma*

No abstract available.
Frontal Bone* ; Humans

No abstract available.
Ankle Fractures* ; Ankle*

Brain stem hematomas, expecially due to ruptured angiographically occult vascular malformation(AOVM), are of great interest because they are potentially curable. Preoperative diagnosis has been difficult due to poor resolution of CT scans in the posterior fossa region. The advent of MRI has made the identification of the angiographically occult vascular malformation possible before surgical excision. We preset 3 cases of brainstem hematoma due to vascular malformations which wre not visualized by angiography but were diagnosted by MRI. The patients were treated surgically and vascular malformations were confirmed.
Angiography ; Brain Stem* ; Diagnosis ; Hematoma* ; Humans ; Magnetic Resonance Imaging ; Tomography, X-Ray Computed ; Vascular Malformations

The treatment of patients with spontaneous intracerebral hematoma is still controversial, but stereotaxic surgery is preferred to conservative treatment recently. We analyzed 78 patients with spontaneous intracerebral hematoma and compared the result of treatment between two groups ; 40 patients with stereotaxic hematoma evacuation, 38 patients with conservative treatment. The results were as following : In thalamic and basal ganglia hematoma, improvement of consciousness level, motor grade and Glasgow coma scale in stereotaxic surgery group was better than that of conservative treatment group and the mortality rate was lower in the stereotaxic surgery group than in the conservative treatment group. Patients with alert or somnolent state preoperatively had better functional recovery in the surgically treated group, but stuporous or comatose patients had no better outcome after surgery. Stereotaxic hematoma evacuation can minimize the brain damage and be performed under the local anesthesia, so it can lower the mortality and morbidity rate of the spontaneous intracerebral hematoma patients.
Anesthesia, Local ; Basal Ganglia ; Brain ; Coma ; Consciousness ; Glasgow Coma Scale ; Hematoma* ; Humans ; Mortality ; Stupor

Malignant CNS lymphoma is a malignant intracranial tumor and in most cases they run a fulminating course if left untreated, with 3 to 5 months survival after appearance of the initial symptoms. Sixteen patients with malignant lymphoma were treated in Asan Medical Center from 1989 to 1994. All patients were underwent tissue diagnosis with subtotal resection or stereotactic biopsy and followed by cranial or craniospinal irradiation with or without systemic chemotherapy. One and three year survival rate of the patients was 88% and 78% respectively. In conclusion, addition of chemotherapy and/or cranial radiation for treatment of the CNS lymphoma may improve survival.
Biopsy ; Chungcheongnam-do ; Craniospinal Irradiation ; Diagnosis ; Drug Therapy ; Humans ; Lymphoma* ; Survival Rate

Idiopathic hypertrophic pachymeningitis (IHP) is a rare, chronic nonspecific and granulomatous inflammatory disorder of the dura with unknown etiology. The diagnosis can be established by open biopsy and exclusion of all other specific granulomatous and infectious diseases. We report a typical case of spinal IHP occurring in a long segment of cervical and thoracic dura from C6 to T8. The patient was 56-yr-old female, who had been suffered from pain on her upper back and both arms for 3 months and recent onset motor weakness of both legs. During the 9 months of follow-up period, she experienced the improvement of her neurologic symptoms with combined therapy of partial excision and corticosteroid medication. Since early surgical intervention and subsequent pulse ste-roid therapy are mandatory for this disease to avoid irreversible damage of nervous system, the identification of this unique disease entity is essential on frozen diagnosis. A few cases have been reported in Korean literature.
Case Report ; Female ; Follow-Up Studies ; Human ; Magnetic Resonance Imaging ; Meningitis/diagnosis/*pathology/therapy ; Middle Age ; Spinal Diseases/diagnosis/*pathology/therapy

OBJECTIVE: The authors analyze the incidence, etiological and prognostic factors between contralateral and ipsilateral delayed epidural hematoma after evacuation of initial hematoma and to formulate recommendations for early detection of evolving hematoma and improvement of outcome. METHODS: Between July 1997 and December 1999, 417 patients underwent craniotomy at department of neurosurgery to evacuate an acute posttraumatic intracranial hematoma. Analysis of these clinical and neuroradiologic data showed that we underwent a second operation on 24 patient(5.8%) for removal of delayed epidural hematoma. In 10(2.4%) of these patients the second operation was undertaken to evacuate a new hematoma that had developed at a contralateral side from the initial hematoma. In 14 patients(3.4%), the second operation was to remove a epidural hematoma at the same site as the first craniotomy. RESULTS: 24 patients were divided into two groups. In Group A, 10 patients who developed contralateral delayed epidural hematoma were 31.5 years(11-61) of age and had skull fracture at the site of delayed epidual hematoma formation. Two of these patients revealed severe brain swelling during the evacuation of acute subdural hematoma. Eight of them were diagnosed within 24 hours after craniotomy through immediately postoperative computed tomography scan. In Group B, 14 patients who developed ipsilateral epidural hematoma were 56.1 years(27-75) of age. Six of them had hemorrhagic tendency related to past medical history. Eleven of these patients were associated with thrombocytopenia and consumptive coagulopathy when required second operation. Twelve patients were diagnosed within 48-72 hours after craniotomy due to clinical deterioration or failure to improve. There was no significant difference in outcome between two groups. CONCLUSION: The authors sought differential factors between contralateral and ipsilateral delayed epidural hematoma. Delayed epidural hematoma after craniotomy may need an urgent operation or lead to serious complication or disability. Postoperative computed tomography scan, intracranial pressure monitoring and repeat computed tomography scan within 72 hours of injury are strongly recommended in these cases, especially after decompression of cranial cavity.
Brain Edema ; Craniotomy ; Decompression ; Hematoma* ; Hematoma, Subdural, Acute ; Humans ; Incidence ; Intracranial Pressure ; Neurosurgery ; Skull Fractures ; Thrombocytopenia

Acute urinary retention in aseptic meningitis is rarely encountered, and the diagnosis of aseptic meningitis may be less than straightforward, because its symptoms and neurological signs are occasionally mild or absent. We report a case in which acute urinary retention provided an appropriate indication for the diagnosis of aseptic meningitis as the cause of an undiagnosed fever.
Fever ; Meningitis, Aseptic ; Urinary Retention