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

No abstract available.
Nephrotic Syndrome*

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

Bronchogenic cyst is an uncommon congenital lesion which is derived from the primitive foregut. Most bronchogenic cyst may develope at the tracheal bifurcation, both main bronchi, the lung parenchymeand the mediastinum. A 40-year old male was evaluated for dyspnea and chest tightness. Computed tomography revealed a well dermarcated, 7.2 x 7.9 cm sized, homogeneous mass compressing the left atrium. 2D-echo showed grade III mitral regurgitation. We completely removed the cystic mass and then confirmed the bronchogenic cyst in the pathological diagnosis. During the follow up period, the patient progressed well without any symptoms and showed grade I mitral regurgitation on the 2D-Echo. Therefore, we report a case of the bronchogenic cyst causing grade III mitral regurgitation.
Adult ; Bronchi ; Bronchogenic Cyst* ; Diagnosis ; Dyspnea ; Follow-Up Studies ; Heart Atria ; Humans ; Lung ; Male ; Mediastinum ; Mitral Valve Insufficiency* ; Thorax

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

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

Patients who had posterior synechiae associated with uveitis,IOL mplantation, vitrectomy, underwent Nd-YAG synechiolysis had been treated with topical corticosteroids and surgical iridectomy. Even minimal dilatation of the pupil by Nd YAG synechiolysis enable the patient to read and the surgeon to postpone cataract surgery and evaluate optic disc or fundus. Also, pupil block may be treated by detaching the synechiae.18 Patients (20 eyes) with posterior synechiae underwent Nd-YAG synechiolysis at Kangnam St.Mary's Hospital from November 1997 to August 1998. An average of 17.14 +/-6.43mJ laser were used. The average prelaser pupil size was 3.78 +/-0.98 mm ;postlaser, 5.13 +/-1.27 mm.This change was statistically significant (p<0.01). Microhyphema and pigment dispersion developed in 4 eyes. However,no significant long-term complications occurred, and there were no obvious lenticular damage and pupil abnormality. Because this laser treatment is relatively safe and offers some possibility of visual improvement, we recom-mend Nd-YAG synechiolysis,but only if performed by an experienced laser microsurgeon.
Adrenal Cortex Hormones ; Cataract ; Dilatation ; Humans ; Iridectomy ; Lasers, Solid-State ; Pupil ; Vitrectomy

No abstract available.
Shoulder*

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.