Glucose transporter type 1 deficiency syndrome: Developmental delay and early-onset ataxia in a novel mutation of the SLC2A1 gene

We report a 6-year-old girl with GLUT1-DS, which is caused by a novel heterozygous variant c.109dupC of the SLC2A1 gene. The dominating clinical features were ataxia, epilepsy started at 4 years, acquired microcephaly, and mild intellectual disability. Treatment with ketogenic diet showed clinical improvement with the reduction of ataxia and seizure control in a 10-month follow-up period.
Source: Journal of Pediatric Neurosciences - Category: Neuroscience Authors: Source Type: research

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ConclusionsStudents view college as an appropriate time to develop food literacy and the university as a trusted partner. However, efforts to promote food literacy should acknowledge perceived challenges and varying motivations for engaging with food.
Source: Journal of the Academy of Nutrition and Dietetics - Category: Nutrition Source Type: research
In this study, we investigated the ability of raspberry fruit extract (RBE) to mitigate adipose tissue dysfunction using hypertrophied 3T3-L1 adipocytes. The obtained results showed that RBE decreased intracellular ROS generation in hypertrophied adipocytes by enhancing expression of antioxidant defense enzymes SOD, catalase, and GPx, and inhibiting an oxidant enzyme NADPH oxidase 4. Moreover, RBE reduced lipid accumulation accompanied by increased lipid mobilization. RBE significantly inhibited LPL, aP2, FAS and PLIN mRNA expression, and enhanced the expression of HSL. Furthermore, RBE exhibited a high anti-inflammatory p...
Source: Journal of Functional Foods - Category: Nutrition Source Type: research
This study was aimed to examine the effect of apple phlorizin on lipid accumulation in HepG2 cell and hamsters (Thirty-six male Golden Syrian hamsters) fed with atherogenic diet. Dietary supplementation of 0.9% phlorizin significantly decreased the level of plasma total cholesterol (TC), triacylglycerols (TG), activity of cholesteryl ester transfer protein (CETP) and liver 3-hydroxy-3-methyl glutaryl coenzyme A reductase (HMG-CoA-R), alongside down-regulated the gene expressions of intestinal Niemann-Pick C1-like 1 (NPC1L1), HMG-CoA-R and up-regulated ATP-binding cassette transporters subfamily G members 5/8 (ABCG5/8) gene...
Source: Journal of Functional Foods - Category: Nutrition Source Type: research
Conclusions: These environment-related barriers may be resolved through changes in the behavior of children, parents, and teachers as well as through the continued efforts of schools, community stakeholders, and policymakers, all of whose cooperation is essential to fostering a healthy food environment for children.
Source: Journal of Nursing Research - Category: Nursing Tags: ORIGINAL ARTICLES Source Type: research
ConclusionThe observed response rate in this study is similar to placebo rates in prospective randomized trials of pharmaceutical grade products and the withdrawal rate is greater than rates obtained with retrospective methods. Doses of OCE administered were lower than doses used in randomized trials.
Source: Seizure - Category: Neurology Source Type: research
CONCLUSIONS: The diet of women diagnosed with schizophrenia did not deviate from the diet of healthy persons, although the nutritional mistakes that were made by them suggest to choose the nutritional therapy individually for each patient, after carrying out a detailed nutritional interview. PMID: 31522201 [PubMed - in process]
Source: Psychiatria Polska - Category: Psychiatry Tags: Psychiatr Pol Source Type: research
CONCLUSIONS: No supplementation of schizophrenia patients' diet is recommended; it is only justified in individual cases of patients in whom vitamin and mineral deficiencies were found on the basis of analysis of their food habits. However, it is necessary to provide each schizophrenia patient with appropriate food education that will allow them to choose products that contain all nutrients needed for proper functioning of the body, including the central nervous system. PMID: 31522200 [PubMed - in process]
Source: Psychiatria Polska - Category: Psychiatry Tags: Psychiatr Pol Source Type: research
FIBRE deficiency may occur if a person isn ’t getting enough fibre in their diet, and the condition can lead to problems with digestion and going to the toilet. To prevent a deficiency and get all the fibre you need a day, there are three diet changes you can make.
Source: Daily Express - Health - Category: Consumer Health News Source Type: news
DAVID DAVIS is best known for his recent tenure as the Brexit Secretary. What people may not know is that he had a health scare last year that made him turn his life around. Writing in the Daily Mail, he revealed he kept the dangers at bay by following a certain diet. What was it?
Source: Daily Express - Health - Category: Consumer Health News Source Type: news
Conclusions: This cohort illustrates the expanding phenotypic and genotypic variability of ATP1A3 mutations even within the RDP diagnosis suggesting that systematic testing of a wider clinical spectrum of patients is warranted.Disclosure: Dr. Meijer has nothing to disclose. Dr. Lubarr has nothing to disclose. Dr. Greene has nothing to disclose. Dr. Frucht has received personal compensation for activities with Merz Pharmaceuticals as a consultant. Dr. Raymond has nothing to disclose. Dr. Severt has received personal compensation for activities with Teva, Allergan, Impax, and Lundbeck. Dr. Shanker has nothing to disclose. Dr...
Source: Neurology - Category: Neurology Authors: Tags: Movement Disorders: Ataxia and Dystonia Source Type: research
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