FDA Clears Everolimus Tablets for Seizures in Tuberous Sclerosis FDA Clears Everolimus Tablets for Seizures in Tuberous Sclerosis

Everolimus tablets for oral suspension become the first approved therapy specifically indicated for the treatment of partial-onset seizures associated with tuberous sclerosis complex.FDA Approvals
Source: Medscape Medical News Headlines - Category: Consumer Health News Tags: Neurology & Neurosurgery News Alert Source Type: news

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Lymphangioleiomyomatosis (LAM) is a rare, slowly progressive pulmonary disease causing cystic lung destruction and respiratory failure. It affects predominantly premenopausal women, and rarely men. It can occur as a sporadic condition (sporadic LAM) or in association with tuberous sclerosis complex (TSC) [1]. LAM is caused by biallelic inactivation of the tumour suppressor gene TSC2 in LAM cells, which leads to hyperactivation of mammalian target of rapamycin complex (mTORC)1, resulting in anabolism and LAM cell proliferation [2]. Sirolimus and everolimus, mTORC1 allosteric inhibitors, have been shown to retard progression of LAM [3].
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: Original Articles: Research letters Source Type: research
In conclusion, our findings suggest that loss of Sirt1 may trigger mTORC1 signaling in growth plate chondrocytes and contributes to growth retardation, thus indicating that SIRT1 is an important regulator during chondrogenesis and providing new insights into the clinical potential of SIRT1 in bone development. PMID: 31599935 [PubMed - as supplied by publisher]
Source: Endocrinology - Category: Endocrinology Authors: Tags: Endocrinology Source Type: research
Abstract Tuberous sclerosis complex (TSC) is a genetic disease related to hyperactivation of the mechanistic target of rapamycin (mTOR) pathway and manifested by neurological symptoms, such as epilepsy and sleep disorders. The pathophysiology of sleep dysfunction is poorly understood and is likely multifactorial, but may involve intrinsic biological regulators in the brain. Here, we characterized a mouse model of sleep disorders in TSC and investigated mechanisms of sleep dysfunction in this conditional knockout model involving inactivation of the Tsc1 gene in neurons and astrocytes (Tsc1GFAPCKO mice). Sleep studi...
Source: Neurobiology of Disease - Category: Neurology Authors: Tags: Neurobiol Dis Source Type: research
In conclusion, CK2 appears to play a role not only in malignant glioma cells but it can also sustain the viability and proliferation of benign astrocytoma cells. The obtained antitumor effects of CK2 inhibitors significantly exceeded their mild or no effect on normal astrocytes in control, which supports the therapeutic potential of these compounds against gliomas. PMID: 31588710 [PubMed - in process]
Source: Folia Neuropathologica - Category: Neurology Tags: Folia Neuropathol Source Type: research
PMID: 31587404 [PubMed - as supplied by publisher]
Source: The Ultrasound Review of Obstetrics and Gynecology - Category: Radiology Authors: Tags: Ultrasound Obstet Gynecol Source Type: research
Purpose of review The phakomatoses are a group of inherited disorders with variable clinical manifestations that are characterized by brain, cutaneous, ocular and other distinct lesions in multiple organs. Correctly recognizing the neuro-ophthalmic signs and symptoms can lead to early diagnosis and treatment. The group is composed of neurofibromatosis (type 1 and 2), tuberous sclerosis complex, von Hippel–Lindau, ataxia–telangiectasia and Sturge–Weber syndromes. However, more than 60 syndromes have been described in the medical literature. This review provides an update on the diagnosis and management o...
Source: Current Opinion in Ophthalmology - Category: Opthalmology Tags: NEURO-OPHTHALMOLOGY: Edited by Dean M. Cestari Source Type: research
Condition:   Tuberous Sclerosis Complex Intervention:   Sponsor:   University Hospital, Montpellier Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
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