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.
Mass Screening*

No abstract available.
Immunoglobulin E*

PURPOSE:The natural course of Hashimoto' thyroiditis (HT) is so dynamic that the disease progresses to overt hypothyroid or spontaneous recovery. The authors reviewed the clinical course of this disease and analysed the possible predicting factors regarding remission. METHODS:Thirty nine patients with HT (38 girls and 1 boy) were studied retrospectively. Of these patients, 30 were followed for more than 2 years. The possible remission factors were analyzed at initial diagnosis and during follow-up period. RESULTS:The mean age at the diagnosis was 11.8+/-.1 years. Initial thyroid function was euthyroid in 38.5%, compensated hypothyroid in 35.9%, overt hypothyroid in 23.1%, and hyperthyroid in 2.6% of patients. Antithyroglobulin antibody (ATA) was positive in 94.7%, and antimicrosomal antibody (AMA) was positive in 74.4%. The overall remission rate was 53.3% during the follow-up period (51+/-7 months). Initial goiter size, thyroid function status, and autoantibody titer had no relation to the remission rate statistically. Follow-up autoantibody titers in remission group were marginally lower than those in nonremission group (P<0.1), and follow-up AMA titer was significantly higher than initial titers in nonremission group (P<0.05). CONCLUSION: We could not find any predictable remission factors from the initial clinical and autoantibody status. But, during follow-up period, patients with lower autoantibody titers showed slight higher remission, and those with increasing AMA titer showed less remission. Above results suggest that we should monitor antithyroid antibody titer as well as thyroid function regularly.
Adolescent* ; Child* ; Diagnosis ; Female ; Follow-Up Studies ; Goiter ; Humans ; Retrospective Studies ; Thyroid Gland* ; Thyroiditis*

No abstract available.
Hepatitis B* ; Hepatitis* ; Humans ; Mothers* ; Parturition*

Twenty-five neonates were observed for the relationship between phenobrbital loading dose, plasma concentrations and control of seizures. Nineteen neonates (76%) had seizures controlled by phenobarbital alone. Effective plasma concentration were 10.0~31.1microgram/ml. Although 14 neonates had seizures controlled by phenobarbital concentration below 20microgram/ml, neonate required level above 30microgram/ml. We found that continued benefit was obtained until phenobarbital plasma concentrations reached 40microgram/ml and there was no adverse effects on cardiorespiratory function. We recommend that plasma phenobarbital concentrations should equal or surpass 40microgram/ml before additional anticonvulsants are used for neonates with seizure.
Anticonvulsants ; Humans ; Infant, Newborn ; Phenobarbital* ; Plasma ; Seizures*

No abstract available.
Cytomegalovirus Infections* ; Cytomegalovirus*

No abstract available.
Diabetes Mellitus*

Forty eight female Sprague-Dawley rats received a subcutaneous implant containing 12.5 mg estradiol ant the age of 3 weeks. Three rats were killed in 1, 2, 3, 4, 6 weeks and in every month during 2~12 months after implantation, and the breasts were examined by light microscope. In all rats, enlargement of terminal end buds was obseved in 1~2 weeks, maximum development of hyperplastic alveolar nodules in 3 weeks, and marked dilatation and secretion of alveoli or ducts in 1~12 months after implantation. Ductal epithelial hyperplasia was observed in 27 rats and carcinomas developed in 23 rats in 2~12 months after implantation. It was thought that the changes induced by estradiol are more similar to the human breast lesions, compared with changes induced by chemical carcinogens such as dimethylbenzanthracene(DMBA), because breast carcinomas developed in close relationship with ductal epithelial hyperplasia in both estradiol-treated rats and humans, but not in DMBA-treated rats.
Female ; Humans ; Rats ; Animals ; Carcinogens

Beckwith-Wiedemann syndrome is a rare clinical entity characterized by exomphalos, macroglossia, macrosomia, and renal hyperplasia/dysplasia. Although its entity is established, its etiology and obligatory features have not been settled. We report an autopsy case with the unusual involvement of the salivary gland. This infant was born to a 37-year-old mother as a normal full-term spontaneous delivery. At 11 days of age she developed with purulent eye discharge and weak sucking, and died suddenly. At autopsy the baby weighed 2,630 gm and the head circumference was 35 cm. She showed thick and prominent skin folds, bilateral aural fissures, macroglossia, hepatomegaly, cardiomegaly, dysmorphic kidneys, and nesidioblastosis. Both kidneys showed dysplastic tubules and hyperplastic cortical tissue enclosing the medulla. In this case there were characteristic findings in major and minor salivary glands with both acinar and ductal hyperplasia, and hypertrophy of mammary glands. Besides, she had generalized depletion of subcutaneous fat, immature buccal fat, patent ductus arteriosus, hyperlobation of the right lung, two accessory spleens, and hyperplasia of basophils and chromophobes in the pituitary gland. The lungs showed diffuse interstitial pneumonia and multiple fibrin thrombi. There were no adrenal cytomegaly, umbilical hernia and exophthalmos.
Infant ; Male ; Female ; Humans