The role of glia in epilepsy, intellectual disability, and other neurodevelopmental disorders in tuberous sclerosis complex

ConclusionsDifferent types of glial cells have both cell autonomous effects and interactions with neurons and other cells that are involved in the pathophysiology of the neurological phenotype of TSC. Targeting glial-mediated mechanisms may represent a novel therapeutic approach for epilepsy and TAND in TSC patients.
Source: Journal of Neurodevelopmental Disorders - Category: Neurology Source Type: research

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AbstractBackgroundPrevious studies have identified that patients withEGFR mutations tend to have better responses to targeted therapy, as well as chemotherapy; however, the effect of genetic alterations in terms of radiotherapy (RT) ‐related outcomes has not been fully assessed. We studied the impact of common non‐small cell lung cancer (NSCLC) genetic alterations (EGFR,ALK andKRAS) in relation to objective response rate (ORR) to RT in patients with brain metastases.MethodsFrom 2009 –2015, 153 patients with an available genotyping status were treated with whole‐brain irradiation (WBI) before receiving systemic ...
Source: Thoracic Cancer - Category: Cancer & Oncology Authors: Tags: ORIGINAL ARTICLE Source Type: research
ConclusionThis study reports significant variability in sensory processing among children with DCD, ADHD and co-occurring symptoms using a population-based sample. These differences can contribute to understand how neurological and social factors correlates across diagnoses.
Source: Research in Developmental Disabilities - Category: Disability Source Type: research
ConclusionAlthough we know mathematical abilities in WS are impaired, this area is under-researched and there is a lack of longitudinal studies that provide insight into the cognitive mechanisms that underpin mathematical development in WS. Therefore, there is a lack of an evidence-base to inform interventions or educational practice.
Source: Research in Developmental Disabilities - Category: Disability Source Type: research
This article presents our clinical perspective on the utility of playf ulness for treating toddlers with ASD.
Source: Journal of the American Academy of Child and Adolescent Psychiatry - Category: Psychiatry Authors: Tags: Clinical perspectives Source Type: research
Publication date: April 2020Source: Biomedical Signal Processing and Control, Volume 58Author(s): Hongguang Pan, Wenyu Mi, Xinyu Lei, Jun DengAbstractBrain–machine interfaces (BMIs) can be adopted to rehabilitate motor systems for disabled subjects by sensing cortical neuronal activities and creating new method. In this paper, to achieve the function of motor rehabilitation, two generalized BMI frameworks, including decoders, encoders and auxiliary controllers, are proposed and compared based on a classical single-joint information transmission model. Firstly, a decoder based on the Wiener filter and an encoder based...
Source: Biomedical Signal Processing and Control - Category: Biomedical Science Source Type: research
Conclusion: Four immunophenotypes were found in GBM vessels, corresponding to endotheliocytes, Pcs, Tcs, and a mixed Pc/Tc immunophenotype. These and forthcoming improvements in our understanding of the origin and function of Tcs, including their relationship with Pcs, are necessary steps in oncology. Study of these cell types (Tcs, Pcs) and their roles in brain tumor oncogenesis will likely enable improved targeted therapies and support development of new forms of anti-neoplastic drugs. PMID: 32064038 [PubMed]
Source: Oncotarget - Category: Cancer & Oncology Tags: Oncotarget Source Type: research
CONCLUSION: Despite the implementation of HTP, a high percentage of the households faced CHE. The authorities should pay more attention to low-income and remote regions of the country; in addition, the HTP should financially cover outpatient healthcare services in an adequate manner. PMID: 32069064 [PubMed - in process]
Source: Rural and Remote Health - Category: Rural Health Tags: Rural Remote Health Source Type: research
ConclusionIn alignment with previous findings (Altiere &Von Kluge, 2009), elevated levels of enmeshment were not predictive of poorer outcomes in families of children with ASD. There is a need to critically consider whether behaviors traditionally thought of as “enmeshed” may represent different, more adaptive support strategies for families who have a child with ASD.
Source: Research in Autism Spectrum Disorders - Category: Psychiatry Source Type: research
AbstractTuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by epilepsy, intellectual disability, and benign tumors of the brain, heart, skin, and kidney. Animal models have contributed to our understanding of normal and abnormal human brain development, but the construction of models that accurately recapitulate a human pathology remains challenging. Recent advances in stem cell biology with the derivation of human-induced pluripotent stem cells (hiPSCs) from somatic cells from patients have opened new avenues to the study of TSC. This approach combined with gene-editing tools such as CRISPR/C...
Source: Molecular Autism - Category: Molecular Biology Source Type: research
We report the molecular diagnosis of TSC in individuals exhibiting extreme intra-familial variability, including the incidental diagnosis of asymptomatic family members. Exome sequencing was performed in three families, with probands referred for epilepsy, autism, and absent speech (Family 1); epileptic spasms (Family 2); and connective tissue disorders (Family 3.) Pathogenic variants inTSC1 orTSC2 were identified in nine individuals, including relatives with limited or no medical concerns at the time of testing. Of the nine individuals reported here, six had post-diagnosis examinations and three met clinical diagnostic cr...
Source: Neurogenetics - Category: Genetics & Stem Cells Source Type: research
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