Familial hyperkalemic periodic paralysis is an autosomal-dominant channelopathy characterized by reversible paralysis associated with episodic hyperkalemia. Mutations in the skeletal muscle voltage-gated sodium channel gene (SCN4A) have been reported to be responsible for this disorder. Paramyotonia congenita is also caused by mutations in the SCN4A gene. Here, we report the case of a 17-year-old boy who presented with both hyperkalemic periodic paralysis and paramyotonia congenita. A molecular analysis of the SCN4A gene revealed a heterozygous T>C transition at nucleotide 2078, leading to an Ile693Thr mutation. This mutation was absent in the patient’s parents supporting a de novo Ile693Thr mutation in our patient.

Animal models for human chronic pain syndromes were developed and widely used for pain research. One of thsese neuropathic pain model by Kim and Chung[1992] has many advantages for operation and pain elicitation. We have examined the c-fos protein, substance P, CGRP immunoreactivity in dorsal root ganglia and dorsal horn in this neuropathic model. About 50 Sprague-Dawley rats were used for this study. L5 and L6 spinal nerve were ligated tightly to produce neuropathic pain model. After 2, 4, 8, 16, 24 hours and 1 week of surgery, rats were anesthesized and sacrificed by perfusion through the left ventricle with saline followed by 0.1M phosphate buffer[pH 7.4] containing 3% paraformaldehyde, 3% glutaraldehyde, and 0.1% picric acid. After confirmation of the roots transected by the surgery, the L5 and L6 dorsal root ganglion and spinal cord were removed and processed for immunohistochemistry. All tissue sections were immunohistochemically stained for substance P, CGRP and c-fos by using the peroxidase-antiperoxidase[PAP] method. Count the number of immunostained substance P and CGRP dorsal root ganglion cells and c-fos immunoreactive dorsal horn cells and analyzed statistically with Mann-Whitney U test. The results are as follows. 1. The number of c-fos protein immunoreactive neurons in the superficial layer of dorsal horn were increased markedly at 2 hours after operation, gradually decreased to normal level 1 week after operation. 2. The number of c-fos protein immunoreactive neurons in the deep layer of dorsal horn were gradually increased to the peak 24 hours after operation, decreased to normal level 1 week after operation. 3. The number of substance P and CGRP immunoreactive L5 and L6 dorsal root ganglion neurons were decreased markedly at 1 week after pain model operation. In conclusion, after neuropathic pain model operation, c-fos protein were immediately expressed in the superficial layer of spinal dorsal horn, thereafter c-fos protein in the deep layer of spinal dorsal horn were expressed. CGRP and substance P immunoreactive neurons were decreased markedly 1 week after neuropathic pain model operation.
Animals ; Chronic Pain ; Ganglia, Spinal* ; Glutaral ; Heart Ventricles ; Horns* ; Humans ; Immunohistochemistry ; Models, Animal ; Neuralgia ; Neurons* ; Perfusion ; Peripheral Nervous System Diseases* ; Posterior Horn Cells ; Rats* ; Rats, Sprague-Dawley ; Spinal Cord ; Spinal Nerve Roots* ; Spinal Nerves ; Substance P

The heterotopic and tissues may be divided into two categories: those that are found in the head and neck region, and those that arise elsewhere. The latter type is rare and most cases are found in the lungs of patients with neural tube defect, particularly anencephaly. Our report descrives anencephalic male infant with heterotopic glial nodules in both lungs. The largest nodule is 2x1.5x1 cm, locates in the lower lobe of the left lung, and has a round gray-white cut surface with cystic spaces. Microscopically, the nodules consist of irregularly arranged astrocytes and glial fibers, in which are embedded gland-like or cystically dilated bronchioles. The astrocytes and glial fibers are strongly positive for glial fibrillary acidic protein and show astrocytic filaments on electron microscopy. This will be an additional case supporting the amniotic fluid aspiration/implantation theory of pathogenetic mechanism of distal heerotopic glial tissue.
Infant ; Male ; Female ; Humans

No abstract available.
Chorion* ; Chorionic Villi Sampling* ; Chorionic Villi* ; Female ; Pregnancy

We analyzed the mRNA expression patterns of major potassium channel genes to determine the mechanism of hypokalemia in familial hypokalemic periodic paralysis. We used quantitative RT-PCR to examine the mRNA levels of both inward (KCNJ2, KCNJ6, and KCNJ14) and delayed rectifi er (KCNQ1 and KCNA2) potassium channel genes in skeletal muscle cells from both normal and patient groups, prior to and after exposure to 4 mM and 50 mM potassium buffers. Quantitative RT-PCR analysis revealed no changes in the mRNA levels of these genes in normal and patient cells on exposure to 4 mM potassium buffer. However, after exposure to 50 mM potassium buffer, which was used to induce depolarization, normal cells showed a signifi cant decrease in KCNJ2, KCNJ6, and KCNJ14 expression, but no change in KCNQ1 and KCNA2 expression. In contrast, patient cells showed no change in KCNJ2 and KCNJ6 expression, but an increase in KCNJ14 expression. Furthermore, KCNQ1 and KCNA2 showed decreased expression. We found that the expression levels of both inward and delayed rectifi er potassium channel genes in patient cells differ from those in normal cells. Altered potassium channel gene expression in patient cells may suggest a possible mechanism for hypokalemia in familial hypokalemic periodic paralysis.

Clear cell chondrosarcoma is thought a varient of chondrosarcoma. The tumor usually involves the proximal part of the femur or humerus. Histologically, tumor cells with abdundant clear cytoplasm and benign giant cells are usually found. En bloc resection rather than more radical surgery is thought adequate in the treatment, We have experienced one case of clear cell chondrosarcoma affecting the calcaneus, which is reported in this paper with brief review of literature.
Calcaneus ; Chondrosarcoma ; Cytoplasm ; Femur ; Giant Cells ; Humerus

Following results were obtained from the light microscopic and stereomicroscopic observations of the breasts of rats treated with 9, 10-Dimethyl-1,2-Benzanthracene(DMBA). 1) Adenocarcinomas developed in 17 rats (24%) among 70 DMBA-treated rats. 2) Terminal and buds (TEB) were observed longer in DMBA-treated rats than in control group, but they finally disppeared 4 monthes after treatment. 3) Many hyperplastic alveolar nodules (HAN) developed in DMBA-treated rats. 4) There were no transitional lesions between TEB and adenocarcinoma or HAN and adenocarcinoma. 5) The number of lobules was decreased in DMBA-treated rats. On the other hand, terminal ducts were increased in number. These findings suggest that DMBA stimulate the regression of lobules and induce to form terminal ducts from which adenocarcinomas and HAN develop independently.
Rats ; Animals ; Adenocarcinoma ; Breast Neoplasms

No abstract available.
Dexamethasone* ; Humans ; Infant, Newborn* ; Meningitis, Bacterial*

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

OBJECTIVE: Peripheral blood mononuclear cells (PBMC) in culture release a biologically active human chorionic gonadotropin (hCG). This effect is detectable during pregnancy with a maximum between the 16th and 19th week. HCG plays an important role for the corpus luteum rescue during the early gestational age and possibly for the immunotolerance. This study was performed to investigate the relationships between the productivity of cultured PBMC of pregnant women and the ability to maintain early pregnancy, and whether 12-o-tetradecanoyl-phorbol-13-acetate (TPA) increases hCG sectetion by cultured PBMCs. MATERIALS AND METHODS: PBMC were obtained from 20 pregnant women between 16th to 19th week of gestation , and cultured with TPA. Culture cells were harvested and hCG mRNA were extracted and RT-PCR were performed. Culture supernatants were collected and hCG concentration were determined by commercial RIA methods. RESULTS: The mean age was 31.0 years old, 19 of 20 (95%) pregnant women's PBMC secereted hCG and expressed hCG mRNA, but in control group exept male hepatitis B patient, none of them produced hCG. TPA activated expression of hCG in PBMC in linear manner. CONCLUSION: Pregnant women's cultured PBMC secreted hCG, but not in non-pregnant or male. We could confirm the mRNA of hCG in PBMC as well in the placental control. The productivity of hCG in PBMC might be closely related with maintenance of early pregnancy.
Chorionic Gonadotropin ; Corpus Luteum ; Efficiency ; Female ; Gestational Age ; Hepatitis B ; Humans ; Male ; Pregnancy* ; Pregnant Women ; RNA, Messenger