No abstract available.
Humans*

PURPOSE: Fragile X syndrome is an X-llinked genetic disorder and is characterized by mental retardation, learning disability, behavior disorder, and autism with typical elongated face, large ears, and macro-orchidism. Recent reports have focused attention on the EEG finding of this syndrome, which is a particular paroxysmal pattern during sleep (mono or diphasic centrotemporal spikes) and awake state (background slowing). In this study, we analyzed the clinical characteristics of fragile X syndrome patients and observed whether a particular EEG pattern is associated with this syndrome or not. METHODS: 7 cases of fragile X syndrome, diagnosed at Sowha Children's Hospital and Cha General Hospital from August 1993 to February 1995, were analyzed retrospectively in terms of typical phenotypes and clinical & EEG characteristics. The patients were diagnosed by Southern blotting and polymerase chain reaction (PCR) method. RESULTS: 1) The subjects were all male and the mean age was 5.8 years old (2Y-11Y). 2) Typical phenotype of long elongated face, macro-orchidism, large ears, and large head are noted in 2/3 of the subject. 3) Developmental delay, mental retardation, learning disability, attention deficit, hyperactivity, and autism are noted in 2/3 of the subject. 4) Seizure is noted in one case and EEG was performed in 6 cases, regardless of the presence of seizures. Abnormal findings including centrotemporal sharps and background slowing are noted in one case, each. 5) By molecular diagnostic methods including Southern blotting and PCR, 3 cases of affected male and 4 of normal transmitting male were diagnosed. CONCLUSIONS: 1) The typical phenotype of fragile X syndrome is long elongated face, macro-orchidism, large ears and large head. 2) The non-physical characteristics of fragile X syndrome are developmental delay, mental retardation, learning disability, attention deficit, hyperactivity, and autism. 3) The characteristic EEG findings of fragile X syndrome known by literature are noted in 2 among 6 cases, which means the specificity is high even though the sensitivity is low. This allows us to propose this EEG pattern as an important "marker" in the diagnosis of fragile X syndrome. However, the number of the subject is too small to conclude now. Further accumulation of cases is reguired.
Autistic Disorder ; Blotting, Southern ; Diagnosis ; Ear ; Electroencephalography* ; Fragile X Syndrome* ; Head ; Hospitals, General ; Humans ; Intellectual Disability ; Learning Disorders ; Male ; Pathology, Molecular ; Phenotype ; Polymerase Chain Reaction ; Retrospective Studies ; Seizures ; Sensitivity and Specificity

Since the placenta is an organ composed of blood vessels, it is not surprising that its primary neoplasm would be a vascular tumor. Placental tumors, primary or secondary, have been known to interfere with placental function. Chorioangioma(primary tumor of the placenta), which is the most common of them, occurs with an incidence for clinically significant ranges from 1~2.8:10000 births. These tumors are benign and are not usually associated with clinical sequelae unless they are larger than 5cm in long diameter. About one third of the large chorioangiomas may be associated with the maternal and fetal complications. For diagnosis of these lesions, the ultrasonography was used. If the chorioangioma is suspected, color doppler study is informative to confirm the presence of the vascular channels. We reviewed ultrasonograms and clinical records of seven patients who had been diagnosed as placental chrioangioma. The appropriate diagnostic tests and treatment can then be initiated in order to prolong gestation and decrease fetal mortality and morbidity.
Blood Vessels ; Diagnosis ; Diagnostic Tests, Routine ; Fetal Mortality ; Hemangioma* ; Humans ; Incidence ; Parturition ; Placenta* ; Pregnancy ; Prenatal Diagnosis* ; Ultrasonography

No abstract available.
Meningitis, Bacterial* ; Stapes*

No Abstract Available.
Cytomegalovirus* ; Enzyme-Linked Immunosorbent Assay* ; Humans*

Three combinations of cloths were evaluated for the protective effects of different kinds of clothings in cold environments. Table 1 shows tile components of tile three models of clothings. A prototype was made by putting a sheet of vinyl at the middle layer of raw cotton in a fabric-quilt cloths. A glove mannequin was covered by each of these cloths. The globes contained 1,000 cc of hot water about 40 degrees C. Tele-thermisters were fixed in order to check the temperature of cloths space and water temperature for evaluation of caloric-loss and climate of clothings. Results are summarized as follows : 1) Without wind, there is no significant difference of air temperatures between ski-parka and quilt wear clothing. 2) The prototype with vinyl sheet best protects against wind, the next is the ski-parka. Quilt-wear protects the least. 3) It is well-known that a working-clothing needs not have any separate liners nor outers. 4) For innermost layer of a clothing preventing cold, a cotton-fabrics is recommended and a water-proof cloths for outer layer. 5) Heat-loss was calculated from the cooling degrees of water. Calorie-loss was 910ca1/m2/hr. when bared, but with the prototype of vinyl sheets the calorie-loss was 350cal/m2/hr. (38.5% of bared). Quilt-wear and ski-parka were 380(41.8%) and 440 cal/m2/hr. (48.4%) respectively.
Climate ; Clothing* ; Manikins ; Water ; Wind*

PURPOSE: The differentiation between renal cell carcinoma(RCC) and transitional cell carcinoma(TCC) is important due to the different methods of treatment and prognosis. But occasionally it is difficult to draw a distinction between the two diseases when renal parenchyme and renal collecting systems are invaded simultaneously. MATERIAL AND METHOD: We reviewed CT scans of 37 cases of renal cell carcinoma and 12 cases of transitional cell carcinoma which showed involvement of renal parenchyma and renal sinus fat on CT. Retrospective analysis was performed by 3 abdominal radiologists. Check points were renalcontour bulging or reniform shape, location of mass center, intact parenchyme overlying the tumor, cystic change, calcification, LN metastasis, vessel invasion, and perirenal extention. RESULT:There were renal contour bulging due to the tumor mass in 33 out of 37 cases of renal cellcarcinima, wherea and nine of 12 cases of transitional cell carcinoma maintained the reniform appearance. This is significant statiscal difference between the two(p<0.005). Center of all TCCs were located in the renal sinus, and 24 out of 35 cases of RCC were located in the cortex(p<0.005). Thirty-six out of 37 cases of RCC lost the overlying parenchyma, whereas 4 out of 9 cases of well enhanced TCC had intact overlying parenchyma(p<0.005) RCC showed uptic change within the tumor mags in 31 cases which was significanity higher than the 4 cases in TCC(p<0.05). CONCLUSION: CT findings of renal cell carcinoma are contour bulging, peripheral location, obliteration of parenchyma, and cystic change. Findings of transitional cell carcinoma are reniform appearance, central location within the kidney, intact overlying parenchyma, and rare cystic change.
Carcinoma, Renal Cell* ; Carcinoma, Transitional Cell* ; Kidney ; Neoplasm Metastasis ; Pelvis* ; Prognosis ; Retrospective Studies ; Tomography, X-Ray Computed

Chordoma arising from the notochordal remnants is a rare primary bone tumor in the cervicosacral region and is even more unusual in the thoracic region. The authors experienced a case of thoracic chordoma and report its CT and MR findings.
Chordoma* ; Notochord

Chordoma arising from the notochordal remnants is a rare primary bone tumor in the cervicosacral region and is even more unusual in the thoracic region. The authors experienced a case of thoracic chordoma and report its CT and MR findings.
Chordoma* ; Notochord

Basal cell carcinoma(BCC) is the most common human malignancy. It involves the face and neck most frequently. However, BCC can very rarely occur on external glenitalia such as scrotum and vulva. We report two cases of serotal and vulvar BCCs in a 67 year old imale and a 43 year old female. He suffered from well defineril erythematous to violet colored plaque with central erosion on the left scrotum for 5 years. She had a brown black colored plaque on the left vulva for 8 years. They did not show any metastatic foci from g!rimary cutaneous lesions, and underwent surgical excision and curettage respectively.
Adult ; Aged ; Carcinoma, Basal Cell* ; Curettage ; Female* ; Genitalia* ; Humans ; Male* ; Neck ; Scrotum ; Viola ; Vulva