Rett syndrome is a newly characterized developmental disorder that affect girls exclusively. These girls are born clinically normal, but their psychomotor development stagnates and deteriorates between the age of 6 months and 2 1/2 years. The full syndrome comprises; aquired microcephaly, severe dementia, autism, loss of purposeful use of the hands, characteristic hand-wringing stereotypies, jerky ataxia of the trunk, epilepsy with various types of fits, and in later years spastic and trophic changes of the lower limbs. There is no known cytogenetic, biochemical or molecular marker for the disorder; the diagnosis is based on clinical criteria. We report a case of Rett syndrome with a brief review of related literatues.
Ataxia ; Autistic Disorder ; Cytogenetics ; Dementia ; Diagnosis ; Epilepsy ; Female ; Hand ; Humans ; Lower Extremity ; Microcephaly ; Muscle Spasticity ; Rett Syndrome*

No abstract available.
DNA Nucleotidylexotransferase*

No abstract available.
Mass Screening*

The authors and their respective affiliations should be corrected.

Perinatal asphyxia is an insult to fetus or newborn due to lack of oxygen or perfusion to various organs, especially to brain, resulting in the important complication known as hypoxic ischemic encephalopathy. A clinical study was conducted on 30 newborns with perinatal asphyxia, who were admitted to Pediatric department of Ewha Women's University Hospital during 18 months period from Sep. 1990 to Feb. 1992. CPK, LDH and isoenzymes were measured in 30 asphyxated neonates and compared with control group. The results were as follows: 1) The serum CPK values at 1st and 7th day were not different in the asphyxia group and control group. 2) The serum CPK-BB and MB fraction at 1st day were highly significant in the asphyxia group. 3) The CSF CPK value at 1st day was highly significant in the asphyxia group. 4) The serum LDH values and the serum LDH isoenzyme 3 were highly significant in asphyxia group at 1st day. 5) The CSF LDH values and the CSF LDH isoenzyme 2 and 3 were highly significant in asphyxia group at 1st day. So, we concluded the serum CPK-BB fraction, the CSF CPK values, the serum LDH values, the serum LDH 2 fraction, the CSF LDH values and the CSF LDH 2,3 fraction as predictors of neurologic disability following perinatal asphyxia.
Asphyxia* ; Brain ; Fetus ; Humans ; Hypoxia-Ischemia, Brain ; Infant, Newborn ; Isoenzymes ; Oxygen ; Perfusion

No abstract available.
Forehead*

No abstract available.
Forehead*

The etiologic impacts in primary hepatocellular carcinoma among Koreans seem different from those in other countries with its high incidence and close association of hepatitis B virus infection and liver cirrhosis. A series of 35 lobectomy specimens of hepatocellular carcinoma (HCC) was examined by means of electron microscopy to elucidate the general ultrastructural characteristics and to understand the morphogenesis of various histological growth patterns and cytologic features of HCC. 1) General cytological details of HCC were similar to those of non-neoplastic hepatocytes, but characterized by scantiness of subcellular organelles. Degree of cellular differentiation was not correlated with ultrastructural features of HCC. 2) Acinar pattern of HCC seemed to develop by either dilatation of central bile canaliculus or central cystic degeneration of microtrabecular growth, and clear cell group of HCC was expressed in abundance of glycogen particles and lipid droplets. 3) Intranuclear inclusions of HCC proved to be cytoplasmic herniations of tumor cells, and intracytoplasmic tubular arrays appeared to originate from the endoplasmic reticulum. 4) Hyaline globules seen in HCC corresponded to clumps of microfilamentous structures similar or identical to Mallory's hyalin.
Humans ; Incidence ; Carcinoma, Hepatocellular

To elucidate the biologic significause of hepatocyte B core antigen (HBcAg) expression and its relation to the natural course of hepatitis B virus (HBV) infection, we tried to correlate the patterns of HBcAg with the HBV replication state and with disease activity in 40 needle biopsies performed on hepatitis B surface antigen (HBsAg) carriers aged from 15 to 46 years. In 32 of 40 cases, HBcAg was present in the hepatocyte nucleus (nHBcAg), in the cytoplams (cHBcAg) or in both (mixed). Pure nHBcAg was seen only in minimal hepatitis, but a diffuse pattern of expression of cytoplasmic HBcAg and mixed cytoplasmic and nuclear expression of HBcAg were seen in active hepatitis. There was also a good correlation between liver HBcAg and serum HBeAg. Cases in which HBcAg expression were observed were positive for serum HBeAg (81%) and the cases negative for HBcAg were all positive for serum anti-HBe.
Biopsy

Inositol 1,4,5-triphosphate(InsP,) is a second messenger for obilizing intracellular Cal'. It can be dephosphorylated by soluble and particulate forms on InsP, 5-phosphatase, or phosphorylated to produce inositol 1,3,4,5-tetrakisphosphate(InsP,) by InsP, 3-kinase. These enzymes represent possible targets for the regulation of the InsP,AnsP. signal. InsP, 3-kinase which catalyses th ATP-dependent phosphorylation of InsP, was purified from bovine brain tissue. All operation were carried out at 41C. Fresh tissure was homogenized and centrifuged. The supernatant was pooled. Proteins were precipitated from 10% polyethylene glycol, and suspended solution was applied to DEAE cellulose column for chromatography. As the result of above procedure, two isozymes of InsP, 3-kinase, I and U were obtained. Each isozyme was applied to Matriz green gel, Calmodulin-Affigel 15 column and subsequent phenyl-TSK HPLC column. Specific activites(SA) and fold of puriety were observed at each purification step of chromatography. At DEAE cellulose chromatography, SA were 1, 0.6 and 11, 4.8 nM/min/mg, and folds
Brain* ; Catalysis ; Chromatography ; Chromatography, DEAE-Cellulose ; Chromatography, High Pressure Liquid ; DEAE-Cellulose ; Inositol* ; Isoenzymes ; Phosphorylation ; Phosphotransferases* ; Polyethylene Glycols ; Second Messenger Systems