Tuberous sclerosis complex (TSC) is a neurocutaneous disease characterized by the growth of hamartomas in many tissues and organs. The most prominent neurological manifestation of TSC is epileptic seizures. Two causative genes have been identifi ed: TSC1 at 9q34 and TSC2 at 16p13.3. TSC1 encodes for hamartin and TSC2 encodes for tuberin. Tuberin contains a small region of homology to the GTPase activating protein. Rapamycin (developed as an antifungal agent) has regulatory effects on cell growth and proliferation via its inhibitory action on a key protein mammalian target of rapamycin (mTOR). Hamartin and tuberin are two major regulatory proteins that negatively modulate mTOR via inhibiting GTPase RHEB. Therefore, mutations of either TSC1 or TSC2 genes cause the same disease TSC. Since rapamycin inhibit mTOR pathway, rapamycin and other mTOR inhibitors are thought to be a new treatment for TSC. Recently increasing data are indicating that rapamycin is effective in various hamartomas in TSC patients. mTOR inhibitors may provide new treatment of TSC, and therapeutic outcomes are encouraging so far. Although several clinical trials have been conducted for the effi cacy of rapamycin and other mTOR inhibitor everolimus, well designed multicenter trials are necessary in the near future.

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Arthritis, Juvenile* ; Rheumatoid Factor*

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Breast Neoplasms* ; Breast* ; Oncogenes*

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Voice*

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PURPOSE: This study was performed to find the relation between glaucoma and the quality of life (QOL). METHODS: The questionnaire survey and ophthalmologic examination was made in 105 glaucoma patients under treatment at ophthalmology clinic of a university hospital and 120 normal persons who had undergone an routine health check-up from June 1st, 2000 and June 30th, 2001. The questionnaire was composed of general characteristics, health-related behavior and the short form-36 health survey for QOL. Using the t-test, analysis of variance (ANOVA), Pearson's correlation analysis and analysis of co-variance (ANCOVA), we examined the relationship between glaucoma and QOL. RESULTS: 1. By t-test or ANOVA various domains of QOL showed statistically significant difference by sex, age, coverage of medical insurance, family history of glaucoma, past history of systemic diseases, educational level, marital status, smoking and drinking status. Visual acuity showed significant positive correlation with QOL and horizontal and vertical cup-to-disk (C/D) ratio showed significant negative correlation with QOL. 2. By ANCOVA to find the association of glaucoma with QOL controlling other related characteristics of subjects, QOL of the glaucoma group showed lower than that of the normal group, but the differences were not statistically significant. CONCLUSIONS: QOL of glaucoma patients was lower than that of normal persons without glaucoma considering sex, age, health insurance system, family history of glaucoma, past history of systemic disease, educational level, marital status, smoking status, drinking status and visual acuity, so further study will be necessary to observe the change of QOL according to progression of glaucoma and treatment status.
Drinking ; Glaucoma* ; Health Surveys ; Humans ; Insurance ; Insurance, Health ; Marital Status ; Ophthalmology ; Quality of Life* ; Surveys and Questionnaires ; Smoke ; Smoking ; Visual Acuity

No abstract available.
Electric Stimulation*

The polyglandular autoimmune syndrome is constellation of multiple endocrine insufficiencies often associated with diseases of nonendocrine organs occurring in individual patients and their families. In 1980, Neufeld classified this syndrome into three major types. Type II is characterized by adrenocortical insufficiency, autoimmune thyroiditis, and insulin-dependent diabetes mellitus. We experienced a case characterized by adrenocortical insufficiency, autoimmune thyroiditis, and ovarian failure and report with the review of the literature. A 38-year-old woman visited our clinic because of progressing brown colored pigmentation of skin and mucosa which is developed a year ago. Nine years ago prior to visit, amenorrhea was developed after right oophrectomy. Three years ago, she revealed feature of hyperthyroidism such as palpitation, loss of body weight (8kg/1-2years), heat intolerance, and sweating, so received antithyroid therapy for 14 months. Brown colored pigmentation of skin and mucosa, especially scar and gingiva, has been progressively aggravated during last year. She had no past or family history of other endocrine disease. Diffuse pigmentation of skin, loss of axillary and pubic hair, and diffuse enlargement of both thyroid glands were shown on physical examination. Blood cell count, serum chemistry and blood sugar test were all within normal range. Basal hormone levels were T3-uptake 29.7% (30~40), T3 153 ng/dL (85~185), T4 7.5ug/dL (5.5~11.5), TSH 2.4 IU (0.34~3.5), anti-TG antibody <100 U/mL (0~100), anti-microsome antibody <50 U/mL (0~100), TBII (thyrotropin binding inhibiting immunoglobulin) 2.2% ( (-15)~15), ACTH 989 pg/mL (0~37), cortisol 0.1 ug/dL (5~25), renin 7.1ng/mL/hr (1~2.5), aldosterone 81.0pg/mL (50~194), LH 115.2 mIU/mL (0.6~16.8), FSH 122 mIU/mL (1.6~19.0), and estradiol <10.0pg/mL (30~120). In ACTH stimulation test, levels of basal cortisol, 30 minutes, and 60 minutes were <0.1, <0.1, and <0.1 g/dL respectively. And, in glucagon stimulation test, levels of basal C-peptide, 5 minutes, 10 minutes, and 15 minutes were 0.9, 5,1, 6.3, and 5.5 ng/dL respectively. Thyroid scan showed diffuse enlargement of bilateral thyroid glands and pelvic ultrasonogram showed atrophy of left ovary. We administered corticosteroid, estrogen, and progesterone which were deficient to the patient, and has followed up the clinical course of the patient.
Adrenocorticotropic Hormone ; Adult ; Aldosterone ; Amenorrhea ; Atrophy ; Blood Cell Count ; Blood Glucose ; Body Weight ; C-Peptide ; Chemistry ; Cicatrix ; Diabetes Mellitus, Type 1 ; Endocrine System Diseases ; Estradiol ; Estrogens ; Female ; Gingiva ; Glucagon ; Hair ; Hot Temperature ; Humans ; Hydrocortisone ; Hyperthyroidism ; Mucous Membrane ; Ovary ; Physical Examination ; Pigmentation ; Progesterone ; Reference Values ; Renin ; Skin ; Sweat ; Sweating ; Thyroid Gland ; Thyroiditis, Autoimmune ; Ultrasonography

No abstract available.