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.

No abstract available.
Arthritis, Juvenile* ; Rheumatoid Factor*

No abstract available.

No abstract available.

Primary tumors of the heart are rare, and one-third of them are malignant. The most common malignant intracardiac tumor is angiosarcoma, which usually involves right atrium. MR features in one patients with right atrial angiosarcoma is presented and the literature briefly reviewed. Angiosarcoma demonstrated slightly heterogeneous intermediate signal intensity on T1-weighted images, high signal intensity on T2-weighted images and higher signal intensity on Gd-DTPA enhanced images. MRI provided more information regarding the extent of the tumor than 2D echocardiography or CT.
Echocardiography ; Gadolinium DTPA ; Heart ; Heart Atria ; Hemangiosarcoma* ; Humans ; Magnetic Resonance Imaging*

No abstract available.
Breast Neoplasms* ; Breast* ; Oncogenes*

No abstract available.
Voice*

No abstract available.
Colorectal Neoplasms* ; Follow-Up Studies*

No abstract available.
Colorectal Neoplasms* ; Follow-Up Studies*

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