نتایج جستجو برای: tsc and tcrfc compensators
تعداد نتایج: 16827505 فیلتر نتایج به سال:
A 19-year-old man with refractory generalized epilepsy related to tuberous sclerosis complex (TSC) (figure 1) complained of chronic left facial swelling. Physical examination disclosed typical mucocutaneous findings of TSC (hypomelanotic macules, shagreen patch, ungual fibromas, facial angiofibromas) and a hardened well-limited mass in his left maxilla, evidenced as an odontogenic extensive lef...
Tuberous sclerosis complex-associated renal angiomyolipoma (TSC-RAML) confers a high risk of bleeding and even mortality. However, data on TSC-RAML in Chinese pedigrees is extremely lacking. The present study aimed to investigate its clinical and genetic characteristics by obtaining a detailed medical history from 6 probands and their family members, and reassessing blood tests, computed tomogr...
OBJECTIVE Tuberous sclerosis complex (TSC) is the second most common phakomatosis and is characterized by the formation of benign hamartomas and low-grade neoplasms in multiple organ systems. In this study, our objective here was to explore the interaction and crosstalk between pathways in response to tuberous sclerosis complex. MATERIALS AND METHODS We enriched the significant pathways and m...
We describe here four sibs, born to consanguineous, healthy, asymptomatic parents. Three of these infants had a rapidly fatal course in the neonatal period; death was attributed to congestive heart failure with radiographic evidence of cardiomegaly in all of them. Necropsy was done in only one of them and showed the typical findings of tuberous sclerosis complex (TSC) in the central nervous sys...
OBJECTIVE This study was aimed to explore parents' experience of assisting children affected by tuberous sclerosis complex (TSC) with subependymal giant-cell astrocytoma (SEGA) manifestation, in order to understand their caring needs and expectation of support. SETTING AND PROCEDURE The study was designed according to the qualitative method of interpretative description and implied two sequen...
Tuberous sclerosis complex (TSC) is characterized by the formation of tumors in multiple organs and is caused by germline mutation in one of two tumor suppressor genes, TSC1 and TSC2. As for other tumor suppressor gene syndromes, the mechanism of somatic second-hit events in TSC tumors is unknown. We grew fibroblast-like cells from 29 TSC skin tumors from 22 TSC subjects and identified germline...
Interdialytic hemodialysis catheter-locking solutions could contribute to a reduction of catheter-related complications, especially infections. However, they can cause side effects because of leakage from the tip of the catheter. Recently, trisodium citrate (TSC) has been advocated because of its antimicrobial properties and local anticoagulation. In a multicenter, double-blind, randomized, con...
Inhibitors of mammalian target of rapamycin (mTOR) are increasingly used as therapy for pediatric patients with tuberous sclerosis complex (TSC). The uncertainty over the efficacy and safety of mTOR inhibitor therapy for the treatment of pediatric patients with TSC emphasizes the necessity for a synthesis of existing evidence. The aim of this study was to assess the efficacy and safety of mTOR ...
Tuberous sclerosis complex (TSC) is an autosomal dominant tumor suppressor gene syndrome due to germline mutations in either TSC1 or TSC2. 10-15% of TSC individuals have no mutation identified (NMI) after thorough conventional molecular diagnostic assessment. 53 TSC subjects who were NMI were studied using next generation sequencing to search for mutations in these genes. Blood/saliva DNA inclu...
INTRODUCTION Tuberous sclerosis complex (TSC) is a genetic disease resulting from mutation in TSC1 or TSC2 and subsequent hyperactivation of mammalian Target of Rapamycin (mTOR). Common TSC features include brain lesions, such as cortical tubers and subependymal giant cell astrocytomas (SEGAs). However, the current treatment with mTOR inhibitors has critical limitations. We aimed to identify ne...
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