No abstract available.
Epidemiologic Studies* ; Female ; Humans

No abstract available.

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.

No abstract available.
Signal Transduction*

No abstract available.
Capsaicin* ; Lymphocytes* ; Lymphoid Tissue*

No abstract available.
Stomach Volvulus*

Osteosarcoma in soft tissue is rare and its prognosis is very grave. Comparing with the osteosarcoma of bone, the former is rarer in incidence, poorer in prognosis and found in older patients. Trauma, irradiation or myositis ossificans are considered to be the causes of this tumor. The radical and meticulous surgery is indispensable to eradicate the focus, but there is not infrequent local recurrence and metastasis. We experienced a case of osteosarcoma in the calf muscle, which seemed apparently to have developed from the myositis ossificans without any definite trauma history. In this case the tumor focus was controlled with surgery and radiation therapy but it was found metastasized to the lung and scalp afterwards.
Humans ; Incidence ; Lung ; Myositis Ossificans ; Neoplasm Metastasis ; Osteosarcoma ; Prognosis ; Recurrence ; Scalp

BACKGROUND: Neurofibroma, the hallmark of neurofibromatosis, is a cutaneous or subcutaneous lesion, with a variable clinical presentation. Histologically, neurofibroma consists of proliferation of nerve derived cellular elements, together with an abundant, collagenous extracellular matrix. Specifically, neurofibroma has been shown to contain 30-50% collagen in its matrix. Objective 5. METHODS: We examined the expression of extracellular matrix genes (collagen, fibronectin, laminin), TGF-b mRNA and Ha-ras oncogene mRNA by using Northern and slot-blot hybridization and immunoperoxidase stains. Result: In Northern blot analysis, Ha-ras and TGF-b genes revealed respectively, 8.8kb and 2. 5kb sized mRNA transcripts in neurofibroma. These parameters were normal in the control. The expression of these genes were 1.9, 2.0 fold increased in neurofibroma. In slot-blot analysis, expression of type I collagen showed fibronectin genes to be 2,401+210, 540+43, respectively, in neurofibroma. So there were 3.7 fold, 2.1 fold, differences respectively, compared to the normal control. However, there were no significant changes of type IV collagen and laminin Bl mRNA levels between neurofibroma and normal skin tissues. Irnmunoperoxidase staining by rnonoclonal anti type IV collagen antibody in neurofibroma showed type IV collagen to be diffusely and weakly stained in tissue. On staining by monoclonal anti-laminin antibody, laminin was stained in a matrix and around vessels. CONCLUSION: The increased expression of extracellular matrix genes may suggest that there is a subpopulation of fibroic cells in neurofibroma which are stimulated by TGF-b. Ha-ras genes which might have accumulated with the differentiation of neural tissue may be related to the pathogenesis of neurofibroma tissue formation. Further studies are needed to determine whether the other factors are related to the pathogenesis of neurofibroma.
Blotting, Northern ; Collagen ; Collagen Type I ; Collagen Type IV ; Coloring Agents ; Extracellular Matrix* ; Fibronectins ; Genes, ras* ; Laminin ; Neurofibroma ; Neurofibromatoses* ; RNA, Messenger ; Skin

A case of sparganosis was presented. The patient was a 43-year-old Korean male who had a history of having eaten raw flesh of snake and frog in Keoje Island during 1950 to 1952 for the purpose of treatment of arthritis by the oriental custom. In the summer, l959, he had slight itching sensation in the left lower scrotal area. A few months later, he noticed the appearance of a peanut-sized mass in that area. However, the mass enlarged gradually to a hen's egg size during two years. On surgical exploration, the mass was found to be a fibro-connective tissue capsule(3 to 4 cm in diameter) in the lower left scrotal area. From the capsule three larvae(l9 to 28 cm by 2 to 6 mm) were freed by dissection without much difficulty. The sources of infection of some formerly reported sparganosis in Korea were discussed. It is most probable that human sparganosis is acquired by ingestion of raw flesh of snake and frog in this country.
parasitology-helminth-cestoda-sparagnum ; sparganosis ; case report