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

No abstract available.
Child* ; Humans ; Pneumonia, Staphylococcal* ; Thorax*

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*

The vein of Galen malformation is a rare midline intracranial arteriovenous malformation. The majority of themalformations were seen in neonate, infancy and childhood, and the clinical symptoms and prognosis depended on ageof presentation. The authors report a case of the vein of Galen malformation in 17 month-old female withhydrocephalus, which is confirmed by CT and digital subtraction angiography.
Angiography, Digital Subtraction ; Cerebral Veins ; Female ; Humans ; Infant, Newborn ; Intracranial Arteriovenous Malformations ; Prognosis ; Veins

70 cases free fiap were performed from March 1978 to July 1985. The donor fiap were dorsalis pedis flap in 34 cases, groin flap in 8 cases, osteocutaeous flap in 3 cases, gracilis flap in 17 cases, and latissimus dorsi flap in 8 cases respectively. The success rate was 90% in total including partial success. The causes of failure were 2 cases infection necrosis, and 1 case kinking of drain vessel. The gracilis and latissimus dorsi myocutaneous flap were very satisfactory method for the reconstruction of the upper extremity flexion power, especially in the case of Volkmann's ischemic contracture. The neurovascular dorsalis pedis flap was regarded as excellent method for the heel pad reconstruction, and tactile sensation reconstruction of the hand.
Free Tissue Flaps ; Groin ; Hand ; Heel ; Humans ; Ischemic Contracture ; Methods ; Microsurgery ; Myocutaneous Flap ; Necrosis ; Sensation ; Superficial Back Muscles ; Tissue Donors ; Upper Extremity

This study presents data on the externally received doses for radiation workers who used the Korea Radioisotope Association's personal monitoring and dose record keeping service from 1984. Distributions of annual dose by age of worker and occupational category were given. The number of radiation workers registered was 23,257 in 1997. The trend of the number of radiation workers and their annual doses increased since 1984. The measured radiation dose were generally low. The collective annual dose and the mean annual dose were 33.45 Sv and 1.44 mSv, respectively. Very few workers(0.5%) exceeded 20 mSv(2 rem) and only 1 exceeded 50 mSv, the legal limit for dose.
Humans ; Korea*

Metaplastic carcinoma is a rare form of breast carcinoma in which a variety of metaplastic changes occur. These commonly involve squamous or spindle cells, but pure chondroid metaplasia is relatively uncommon. We report a case of metaplastic carcinoma of the breast which mainly involved chondroid metaplasia and in which chondroid calcifications were seen on mammograms.
Breast Neoplasms ; Breast* ; Cartilage ; Metaplasia

A study was done on 200 patients with a diagnosis of calcium oxalate stone and 50 cases of control group to evaluate the chemical relationships between stone formation and a 24-hour excretion or calcium. oxalate, uric acid and citrate. This study was also evaluated by comparing urinary concentrations and total daily output of the above metabolites. Among the 200 patients metabolic disorders included hypercalciuria in 34 (17.0%), hyperoxaluria in 8 (4.0%), hyperuricosuria in 43 (21.5%) and hypocitraturia in 128 (64.0%). The total output of calcium, oxalate, uric acid, citrate were significantly different (p<0.01) and also showed significant differences in the those concentrations between these two groups. Therefore, it is confirmed that the concentration of stone metabolite is also a influential factor of the stone formation as like as total daily output.
Calcium Oxalate* ; Calcium* ; Citric Acid ; Diagnosis ; Humans ; Hypercalciuria ; Hyperoxaluria ; Uric Acid ; Urolithiasis*

No abstract available.
Preimplantation Diagnosis*