Wilson disease gene (WND) locus is presumed to be located in chromosome 13q. There are studies on the clinical heterogeneities and variations between ethnic groups in Europe, North America, and the Middle East and it requires the study of another ethnic group, especially Asian population for the confirmation. This study was an anlysis of restriction fragment length polymorphism of the Wilson's disease with the probes on D13S26, D13S31, and D13S59, The subject was 34 persons of seven families. The serum ceruloplasmin and the serum copper were also measured. The results were as follows: 1) The Wilson disease gene was also presumed to be located in chromosome 13q area in Korean patients and D13S25, D13S26, D13S31 and D13S59 gene loci were also linked to Wilson disease of Koreans. The lod score of D13S25 was 1.45 (theta =0: D13S59, 1.13 (theta =0): D13S26, 247 (theta =0). 2) Three siblings of Wilson disease patients were diagnosed as carriers by the analysis of restriction fragment length polymorphism. 3) In Wilson disease patients, the serum ceruloplasmin and copper was 6.8+/1.8dl, and 64.7+/-38.6microg/dl respectively and it is 18.8+/-6.1 mg/dl and 65.3+/-10.6microg/dl respectively in heterozygotes.
Asian Continental Ancestry Group ; Ceruloplasmin ; Copper ; Ethnic Groups ; Europe ; Genetic Linkage* ; Hepatolenticular Degeneration* ; Heterozygote ; Humans ; Lod Score ; Middle East ; North America ; Polymorphism, Restriction Fragment Length ; Siblings

PURPOSE: The ictal perfusion patterns of cerebellum and basal ganglia have not been systematically investigated in patients with temporal lobe epilepsy (TLE). Their ictal perfusion patterns were analyzed in relation with temporal lobe and frontal lobe hyperperfusion during TLE seizures using SPECT subtraction. MATERIALS AND METHODS: Thirty-three TLE patients had interictal and ictal SPECT, video-EEG monitoring, SPGR MRI, and SPECT subtraction with MRI co-registration. RESULTS: The vermian cerebellar hyperperfusion (CH) was observed in 26 patients (78.8%) and hemispheric CH in 25 (75.8%). Compared to the side of epileptogenic temporal lobe, there were seven ipsilateral hemispheric CH (28.0%), fifteen contralateral hemispheric CH (60.0%) and three bilateral hemispheric CH (12.0%). CH was more frequently observed in patients with additional frontal hyperperfusion (14/15, 93.3%) than in patients without frontal hyperperfusion (11/18, 61.1%). The basal ganglia hyperperfusion (BGH) was seen in 11 of the 15 patients with frontotemporal hyperperfusion (73.3%) and 11 of the 18 with temporal hyperperfusion only (61.1%). In 17 patients with unilateral BGH, contralateral CH to the BGH was observed in 14 (82.5%) and ipsilateral CH to BGH in 2 (11.8%) and bilateral CH in 1 (5.9%). CONCLUSION: The cerebellar hyperperfusion and basal ganglia hyperperfusion during seizures of TLE can be contralateral, ipsilateral or bilateral to the seizure focus. The presence of additional frontal or basal ganglia hyperperfusion was more frequently associated with contralateral hemispheric CH to their sides. However, temporal lobe hyperperfusion appears to be related with both ipsilateral and contralateral hemispheric CH.
Basal Ganglia* ; Cerebellum* ; Epilepsy, Temporal Lobe* ; Frontal Lobe ; Humans ; Magnetic Resonance Imaging ; Perfusion ; Seizures ; Temporal Lobe* ; Tomography, Emission-Computed, Single-Photon

The ankle is an important joint supporting the entire musculoskeletal system during standing and walking. Current opinion has emphasized necessity of anatomical reduction and rigid internal fixation for a displaced or unstable fracture of the ankle. The purpose of this study was to evaluate the correlation of the adequate surgical operative methods and postoperative care with prognosis. The authors analysed 104 cases of ankle fracture, treated operatively in Department of Orthopedic Surgery of Dae-Han Hospital from January 1991 to December 1994, followed up more than one year. The results were as follows: 1. According to the classification of Lauge-Hansen and Danis-Weber, the most common type was supination-external rotation and type B, respectively. 2. The most common cause of injury was slip down and the others were traffic accident, fall down and direct trauma. 3. According to the criteria of Meyer, the result of treatment was good or excellent in 94 cases (90.4%) radiologically and in 91 cases (87.5%) clinically. 4. The complications were 5 cases of traumatic arthritis, 3 cases of malunion, 2 cases of non-union and 1 case of infection. 5. The early ROM exercise after accurate reduction and rigid internal fixation was very important in treatment of fracture of the ankle.
Accidents, Traffic ; Ankle Fractures ; Ankle* ; Arthritis ; Classification ; Joints ; Musculoskeletal System ; Orthopedics ; Postoperative Care ; Prognosis ; Walking

A clinical observation was performed on 2,122 cases of premature infants who were admitted to Ilsin Christian during the past 5 years from Jan. 1986 to Dec. 1990. The results were as follows; 1) The incidence of prematurity was 5.7%, overall mortality rate was 15.8%, and the sex ratio of male to female was 1.5:1. 2) Concomitant maternal diseases were premature rupture of membrane 457 cases (21.5%), preeclampsia & eclampsia 424 cases (19.9%), multiple pregnancy 250 cases (11.7%) etc, in the order of frequency. 3) Prematurity was most prevalent among multipara over 3. 4) Incidence of prematurity according to maternal age was frequent in woman more than 35 years old. 5) Mortality of prematurity was higher inversely propotional to birth weight & gestational age. 6) Main causes of death were IRDS 45 cases (43%), congenital anomaly 72 cases (21.6%), sepsis 31 cases (9.3%), and unknown 84 cases (25.0%). 7) Clinical problems were hyperbilirubinemia 38.9%, hypoglycemia 28.6%, IRDS 18%, sepsis & other infections 8.1% etc, in the order of frequency. 8) Most deaths were seen within first 24hr (74.5%).
Adult ; Birth Weight ; Cause of Death ; Eclampsia ; Female ; Gestational Age ; Humans ; Hyperbilirubinemia ; Hypoglycemia ; Incidence ; Infant, Newborn ; Infant, Premature ; Male ; Maternal Age ; Membranes ; Mortality ; Pre-Eclampsia ; Pregnancy ; Pregnancy, Multiple ; Rupture ; Sepsis ; Sex Ratio

We present a family of FSP with review of literatures. Seeligmuller (1876) and Strumpell (1880) were the first to describe familial case of spastic paraplegia characterized by progressive weakness and spasticity of the lower limbs with little or no involvement of the upper extremities. This syndrome is heterogenous in inheritance, age of onset, severity and associated signs. A pure type without complications has been named "Strumpell's FSP". We have recently experienced a case of 17 years old male who had bilateral weakness and stiffness of lower extremities, and gait disturbance with family history. Differential diagnosis, particularly with familial amyotrophic lateral sclerosis, is discussed.
Adolescent ; Age of Onset ; Amyotrophic Lateral Sclerosis ; Diagnosis, Differential ; Gait ; Humans ; Lower Extremity ; Male ; Muscle Spasticity* ; Paraplegia* ; Upper Extremity ; Wills

No abstract available.
Adrenocorticotropic Hormone* ; Animals ; Heart* ; Mice*

BACKGROUND: The human homologue of the SC2 gene from a human dermal papilla cell cDNA library has been isolated and designated hSC2. HSC2 protein also shares similarity with 5 -reductase, a protein important in testosterone metabolism. OBJECTIVE: Prior to knowing the functions of hSC2 in dermal papilla, we cloned it and analyzed its relative expression levels in adult tissues and cancer cell lines. METHODS: hSC2 was isolated from low abundant clones in dermal papilla cDNA library using cDNA array hibridization method. Full-length clone was sequenced and we studied its expression in different tissues by Northern blot hybridization. RESULTS: Sequence data reveals a single open reading frame, encoding a putative hydrophobic protein with a calculated molecular weight of 36 kDa. Its deduced amino acid sequences are almost 97.4% identical to t4ose of rat protein. Northern blot hybridization shows that hSC2 cDNA recognizes a 1.35 kb transcript that was expressed in various epithelial and mesenchymal tissues including testis and liver. CONCLUSION: We have cloned and analysed tissue distributions of hSC2. It was interesting that it had homology with 5α-reductase isozymes. Further studies will be needed to understand the involvement of hSC2 in androgen hormone signaling.
Adult ; Amino Acid Sequence ; Animals ; Blotting, Northern ; Cell Line ; Clone Cells ; Cloning, Molecular* ; DNA, Complementary ; Gene Library ; Humans ; Isoenzymes ; Liver ; Metabolism ; Molecular Weight ; Oligonucleotide Array Sequence Analysis ; Open Reading Frames ; Rats ; Testis ; Testosterone ; Tissue Distribution

No abstract available.
Carcinoma, Small Cell* ; Female ; Ovary*

No abstract available.
Female ; Lactation*

Intramedullary myelitis due to bacterial meningitis associated with cervical epidural abscess is very rare. Its cause and clinical features are non-specific, therefore exact diagnosis is often missed or mistaken for other disease and immediate treatment may be delayed. We report a case of intramedullary myelitis due to epidural abscess presented with prominent symptoms of meningitis and manifestations of acute cerebrovacular accident. A 69 -year-old man was admitted due to right hemicranial headache with pain on right posterior neck and febrile sensation. At first, the patient's headache was improved by conservative therapy. Three weeks later, the patient showed abrupt right hemiparesis (MRC grade 2/5) with drowsy mentality. The CSF findings of the patient were compatible with acute bacterial meningitis. Cervical spine MRI showed cervical epidural abscess and extensive intramedullary myelitis from cervical to lumbar spinal cord. After antibiotic therapy, mentality of the patient became to be alert and right hemiparesis was improved to MRC grade 4/5. Follow up cervical spine MRI after several weeks represented that the lesions of cervical epidural abscess and intramedullary myelitis were significantly diminished.
Diagnosis ; Epidural Abscess* ; Follow-Up Studies ; Headache ; Humans ; Magnetic Resonance Imaging ; Meningitis ; Meningitis, Bacterial* ; Myelitis* ; Neck ; Paresis ; Sensation ; Spinal Cord ; Spine