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

A 44-year-old woman who comlpained of dizziness and generalized weakness was admitted. The hemoglobin was 6.6g/dL, hematocrit 25.5%, and serum ferritin 2.14 ng/mL Stool occult blood was positive and microcytic hypochromic anemia was found on periyheral blood smear. Gastroscopic examination showed about 2 x 1 cm sized hemispherical sebmucosal tumor on antrum. The patient underwent operatioh for confirmatory diagnosis and treatment. The final pathologic diagnosis of the resected lesion was hemangioma of stomach. Cavernous hemangioma of stomach is a rare disease.Mostly, it has a benign course clinically, but early diagnosis is important because massive hemorrhage and anemia by chronic blood loss can occur. We report a case of hemangioma of stomach with review of literature.
Adult ; Anemia ; Anemia, Hypochromic ; Diagnosis ; Dizziness ; Early Diagnosis ; Female ; Ferritins ; Hemangioma ; Hemangioma, Cavernous* ; Hematocrit ; Hemorrhage ; Humans ; Occult Blood ; Stomach*

We experienced a case of persistent left superior vena cava draining into the common atrium in a fetus of 26-year-old primigravida. Persistent left superior vena cava is derived from the left cardinal vein. This anomalous vessel usually drains into the right atrium via the coronary sinus and has no physiologic significance. Much less frequently, the left superior vena cava drains directly into the left atrium and it is associated with complex heart anomalies such as atrial septal defect, absence of coronary sinus, double outlet right ventricle, transposition of great arteries and asplenia syndrome. Fetal echocardiography showed an abnormal vessel draining into common atrium in a fetus with complex heart anomalies. It had a different direction from right superior vena cava or pulmonary veins in its traveling. We report a case with autosy findings.
Adult ; Coronary Sinus ; Double Outlet Right Ventricle ; Echocardiography* ; Fetus ; Heart ; Heart Atria ; Heart Septal Defects, Atrial ; Heterotaxy Syndrome ; Humans ; Pulmonary Veins ; Transposition of Great Vessels ; Veins ; Vena Cava, Superior*