Background: Cardiac rhabdomyomas can be prenatally diagnosed in patients with tuberoussclerosiscomplex.
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Novartis said Afinitor cuts seizures in phase III study in patients with tuberoussclerosiscomplex.
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Conclusions: Patients with tuberoussclerosiscomplex with reduced residual white matter were neurologically more severely affected.
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Most patients with tuberoussclerosiscomplex (TSC) develop cortical tubers that cause severe neurological disabilities.
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Subependymal giant cell astrocytoma (SEGA) is a rare tumor occurring almost exclusively in patients with tuberoussclerosiscomplex.
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In general, sirolimus is an effective and safe therapy for renal angiomyolipoma in patients with tuberoussclerosiscomplex or sporadic lymphangioleiomyomatosis.
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Recent studies have shown that sporadic and tuberoussclerosiscomplex-associated PEComa may respond to mTOR inhibitors underscoring the importance of recognizing this tumor.
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All of the patients in the study had angiomyolipomas from tuberoussclerosiscomplex, a rare genetic disease, or lymphangioleiomyomatosis, a rare lung disease.
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Materials and methods: In this case-control study, 16 patients with tuberoussclerosiscomplex and 12 control subjects underwent DTI.
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Purpose: We evaluate the efficacy and safety of sirolimus in the treatment of renal angiomyolipoma in patients with tuberoussclerosiscomplex or sporadic lymphangioleiomyomatosis.
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Tract-based spatial statistics revealed decreased FA and axial diffusivity of the cerebral white matter in the tuberoussclerosiscomplex group, suggesting reduced axonal integrity.
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In the present study, we investigated CC outcomes among patients with drug-resistant epileptic spasms or tonic spasms associated with tuberoussclerosiscomplex (TSC).
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Therefore, we tested structurally distinct IMPDH inhibitors in multiple cell and mouse tumor models of the genetic tumor syndrome tuberoussclerosiscomplex (TSC).
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Genetic testing of a saliva sample was negative for tuberoussclerosiscomplex but positive for a novel mutation in the retinoblastoma gene (RB1).
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The disease is caused by mutational inactivation of the tumor suppressor gene tuberoussclerosiscomplex 1 (TSC1) or TSC2.
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The 16 patients were aged 28 to 60 (mean 49; median 50) years, and 1 had a history of tuberoussclerosiscomplex.