Pulmonary lymphangioleiomyomatosis associated with aggressive renal angiomyolipoma.

We present a young woman with LAM with an aggressive renal angiomyolipoma confirmed at autopsy. PMID: 29686563 [PubMed]
Source: Baylor University Medical Center Proceedings - Category: Universities & Medical Training Authors: Tags: Proc (Bayl Univ Med Cent) Source Type: research

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TUESDAY, Dec. 10, 2019 -- Among patients with tuberous sclerosis complex (TSC), the reduction in the frequency of TSC-associated seizures was greater in those receiving a purified version of cannabidiol (CBD) than in those receiving placebo,...
Source: Drugs.com - Pharma News - Category: Pharmaceuticals Source Type: news
A cannabidiol-derived drug approved for the treatment of Dravet and Lennox-Gastaut syndromes also reduces seizures in patients with tuberous sclerosis complex.Medscape Medical News
Source: Medscape Emergency Medicine Headlines - Category: Emergency Medicine Tags: Neurology & Neurosurgery News Source Type: news
AbstractTuberous sclerosis complex (TSC) is a genetic disorder characterized by frequent noncancerous neoplasia in the brain, which can induce a range of severe neuropsychiatric symptoms in humans, resulting from out of control tissue growth. The causative spontaneous loss-of-function mutations have been also identified in rats. Herein, we studied histopathological and molecular changes in brain lesions of the Eker rat model carrying germline mutation of thetsc2 gene, predisposed to multiple neoplasias. Predominant subcortical tumors were analyzed, along with a rare form occurring within the pyriform lobe. The uniform comp...
Source: Neurotherapeutics - Category: Neurology Source Type: research
SATURDAY, Dec. 7, 2019 -- Prescription-grade CBD may help control hard-to-treat seizures caused by a rare genetic disorder, a preliminary study suggests. The study involved 224 patients with tuberous sclerosis complex (TSC) -- a genetic condition...
Source: Drugs.com - Daily MedNews - Category: General Medicine Source Type: news
The mTOR inhibitors everolimus and sirolimus have activity against multiple manifestations of tuberous sclerosis complex (TSC) and are approved to treat astrocytomas, angiomyolipomas, lymphangioleiomyomatosis, and epilepsy. Cannabidiol is a novel anticonvulsant medication. There is a lack of information regarding drug-drug interactions between mTOR inhibitors and cannabidiol in clinical practice.
Source: Pediatric Neurology - Category: Neurology Authors: Tags: Short Communication Source Type: research
(University of Maryland School of Medicine) The University of Maryland School of Medicine (UMSOM), University of Maryland Medical Center (UMMC), and the Tuberous Sclerosis Alliance (TS Alliance) have joined together to launch first-of-a-kind centers in Maryland to treat adults with neurodevelopmental disabilities, such as autism.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news
Abstract Tuberous sclerosis complex (TSC) is a multisystem disorder with increased prevalence of autism spectrum disorders (ASDs). This project aimed to characterize the autism phenotype of TSC and identify biomarkers of risk for ASD. Because abnormalities of EEG during sleep are tied to neurodevelopment in children, we compared electroencephalographic (EEG) measures during Stage II sleep in TSC children who either did (ASD+) or did not (ASD-) exhibit symptoms of ASD over 36-month follow up. Relative alpha band power was significantly elevated in the ASD+ group at 24 months of age with smaller differences at ...
Source: Journal of Autism and Developmental Disorders - Category: Psychiatry Authors: Tags: J Autism Dev Disord Source Type: research
CONCLUSIONS: Early data on everolimus as an adjunctive treatment in TSC-associated epilepsy are promising with regards to both effect and tolerability. FUNDING: none. TRIAL REGISTRATION: not relevant. PMID: 31791480 [PubMed - in process]
Source: Danish Medical Journal - Category: General Medicine Tags: Dan Med J Source Type: research
Contributors : Dritan Liko ; Andrzej RzepielaSeries Type : Non-coding RNA profiling by high throughput sequencingOrganism : Mus musculusLoss of the tumor suppressor tuberous sclerosis complex 1 (Tsc1) in the liver promotes gluconeogenesis and glucose intolerance. We asked whether this could be attributed to aberrant expression of small RNAs. We preformed small-RNA sequencing on liver of Tsc1 knock-out mice, and found that miRNAs of the delta like homolog 1 (Dlk1) – deiodinase iodothyronine type III (Dio3) locus are upregulated in an mTORC1-dependent manner. Sustained mTORC1 signaling during development prevented CpG ...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Non-coding RNA profiling by high throughput sequencing Mus musculus Source Type: research
This study may contribute to understand metabolic disorders such as type 2 diabetes mellitus and morbid obesity and implements alternative therapeutic approaches to alter AMPK activity.Abbreviations: ACTB: actin, beta; ADP: adenosine diphosphate; AMP: adenosine monophosphate; AMPK: AMP-activated protein kinase; ARMC8: armadillo repeat containing 8; ATP: adenosine triphosphate; BafA1: bafilomycin A1; BCAA: branched chain amino acid; BICC1: BicC family RNA binding protein 1; BSA: bovine serum albumin; CAMKK2 kinase: calcium/calmodulin dependent protein kinase kinase 2, beta; CHX: cycloheximide; DMEM: Dulbecco's modified Eagl...
Source: Autophagy - Category: Cytology Authors: Tags: Autophagy Source Type: research
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