Long-term effects of the ketogenic diet on growth in children with resistant drug epilepsy and Glucose Transporter Type 1 Deficiency Syndrome

Publication date: August 2019Source: Nutrition, Metabolism and Cardiovascular Diseases, Volume 29, Issue 8Author(s): Cinzia Ferraris, Valentina De Giorgis, Ilaria Brambilla, Monica Guglielmetti, Claudia Trentani, Lara Manea, Ottavia Ferraro, Simona Bertoli, Pierangelo Veggiotti, Anna Tagliabue
Source: Nutrition, Metabolism and Cardiovascular Diseases - Category: Nutrition Source Type: research

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ConclusionsEpilepsy occurs in approximately 75.3% (58/77) of patients. Hypomelanotic macules occurred significantly more often in patients with TSC2 mutations and cases with TSC1/TSC2 mutations had a significantly higher frequency of cortical nodule than patients with no mutations identified. Overall, our data expands the spectrum of mutations associated with the TSC loci and will be of value to the genetic counseling in patients with the disease.
Source: Seizure - Category: Neurology Source Type: research
Publication date: Available online 23 August 2019Source: SeizureAuthor(s): Alessandro Orsini, Angelo Valetto, Veronica Bertini, Mariagrazia Esposito, Niccolò Carli, Berge A. Minassian, Alice Bonuccelli, Diego Peroni, Roberto Michelucci, Pasquale StrianoAbstractProgressive Myoclonus Epilepsies (PMEs) are a group of uncommon clinically and genetically heterogeneous disorders characterised by myoclonus, generalized epilepsy, and neurological deterioration, including dementia and ataxia. PMEs may have infancy, childhood, juvenile or adult onset, but usually present in late childhood or adolescence, at variance from epil...
Source: Seizure - Category: Neurology Source Type: research
ConclusionThis study showed that the number of male patients with epilepsy driving cars was extremely high, accounting for almost all the patients in this study, with most of them doing several wrong practices during driving. Other major issues include the lack of specific laws regulating driving for patients with epilepsy and no counseling from physicians about driving after the diagnosis of epilepsy. We recommend developing the Saudi driving regulations for patients with epilepsy, and this study is considered an urgent call for action for the formation of a local driving regulations taskforce. Health education about the ...
Source: Epilepsy and Behavior - Category: Neurology Source Type: research
Contributors : Tomassoni-Ardori Francesco ; Skyler Kuhn ; Vishal Koparde ; Lino TessarolloSeries Type : Expression profiling by high throughput sequencingOrganism : Mus musculusBrain Derived Neurotrophic Factor (BDNF) is a potent modulator of brain synaptic plasticity. Signaling defects caused by dysregulation of its NTrk2 (TrkB) kinase (TrkB.FL) and truncated receptors (TrkB.T1) have been linked to the pathophysiology of several neurological and neurodegenerative disorders. We found that upregulation of Rbfox1, an RNA binding protein associated with intellectual disability, epilepsy and autism,  increases selectively...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research
CONCLUSIONSCoverage guidelines for IMRT, SRS, SABR, and PBT vary across 5 major insurance providers and may be substantially discordant when compared to ASTRO coverage guidelines. There remain several specific areas where ongoing and future dialogue between ASTRO, payers, and policymakers remains essential.
Source: Practical Radiation Oncology - Category: Cancer & Oncology Source Type: research
Publication date: Available online 22 August 2019Source: Stem Cell ResearchAuthor(s): Natascia Malerba, Patrizia Benzoni, Gabriella Maria Squeo, Raffaella Milanesi, Federica Giannetti, Lynette G. Sadleir, Gemma Poke, Bartolomeo Augello, Anna Irma Croce, Andrea Barbuti, Giuseppe MerlaAbstractGNB5 loss-of-function pathogenic variant cause IDDCA, a rare autosomal recessive human genetic disease characterized by infantile onset of intellectual disability, sinus bradycardia, hypotonia, visual abnormalities, and epilepsy. We generated a human induced pluripotent stem cells (hiPSCs) from skin fibroblasts of a patient with the hom...
Source: Stem Cell Research - Category: Stem Cells Source Type: research
CONCLUSION: All of these drugs, if accepted by the patient, can also have an additional, beneficial placebo effect, with the patient calming down more rapidly than could be explained on pharmacological grounds alone. It is, therefore, important in emergencies (as at other times) for the patient to be involved in treatment decisions to the greatest possible extent. PMID: 31431244 [PubMed - in process]
Source: Deutsches Arzteblatt International - Category: General Medicine Tags: Dtsch Arztebl Int Source Type: research
CONCLUSIONS: There was a great diversity of oral, craniofacial and systemic characteristic among the KS patients, suggesting that an inter-disciplinary approach should be taken for their dental treatment. PMID: 31433389 [PubMed - as supplied by publisher]
Source: Medicina Oral, Patologia Oral y Cirugia Bucal - Category: ENT & OMF Tags: Med Oral Patol Oral Cir Bucal Source Type: research
Source: Neurological Sciences - Category: Neurology Source Type: research
Source: BMJ News - Category: General Medicine Source Type: research
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