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  • eht library sale br Methods GLUT DS was diagnosed


    Methods GLUT1DS was diagnosed either when analysis of the SLC2A1 gene showed a pathogenic mutation and/or when cerebrospinal fluid (CSF) analysis met the criteria for GLUT1DS: a CSF eht library sale below the 10th percentile, a cerebrospinal fluid (CSF) to blood ratio below the 25th percentile and CSF lactate below the 90th percentile. Patients were treated according to the national KD therapy guideline.
    Discussion GLUT1DS is generally described as a treatable disorder and existing case series do not provide details of treatment failure.6, 8, 9, 10, 11 In select patients with GLUT1DS, KD therapy fails, rendering GLUT1DS an essentially untreatable disorder. In this small cohort, failure of the ketogenic diet was due to KD inefficacy (poor effect despite adequate ketosis), as well as intolerance and an inability to attain ketosis. This cohort of patients with KD treatment failure stands out, compared to previously published series of KD treatment, for their advanced age at seizure onset (almost 4 years vs 8 months in large series) and their long diagnostic and therapeutic delay. Early diagnosis and treatment are regarded as the most important factors that determine outcome. In addition, all patients in our cohort are female, while normally there is no sex preference in this disease. This suggests that advanced age at seizure onset and female sex might be risk factors for KD resistance. These assumptions should be tested in an explorative international multicenter study. The study by Leary et al. showed that epileptiform discharges in the EEG were present in 67% of patients. In other studies of GLUT1DS patients with a good response to KD therapy, epileptiform discharges in the EEG decreased in frequency or disappeared in 78–100%.9, 11 In our patients, KD inefficacy was further evidenced by the observation that EEG findings remained unchanged or even worsened during KD therapy. Therefore, EEG recordings prior and during KD therapy can aid in the assessment of effectiveness of the KD therapy. KD therapy failure in our small cohort suggests that this concept of reversible brain energy deficit in GLUT1DS does not suffice. Another argument against this concept is the observation that level of ketosis is not associated with the effectiveness of the ketogenic diet. For patients with KD intolerance and KD inefficacy, as well as those unable to reach ketosis, there is an urgent need for an alternative treatment. For all GLUT1DS patients, research into alternative treatment modalities is essential, because the adverse effects and impact of the KD also cause inconvenience in the ‘good responders.’ Moreover, there is a risk of late onset adverse effects caused by the KD, such as nephrolithiasis, cardiac complications and osteoporosis.
    Sources of funding
    Conflicts of interest
    Introduction Oral squamous cell carcinoma (OSCC) is the eighth most common cancer worldwide, and more than 300,000 new cases are reported each year [1]. Although treatments have advanced in the past few decades, the 5-year survival rate of OSCC remains less than 50%, mainly because of cancer metastasis to lymph nodes [2,3]. Numerous studies have suggested that the dysregulation and dysfunction of oncogenes and tumor suppresser genes play an important role in tumor progression. However, an exact understanding of the molecular mechanism underlying OSCC metastasis has not been established. Glycolysis, which is also known as the Warburg effect, has been widely recognized as a central hallmark of human cancer [4,5]. Certain glycolytic genes are overexpressed in various tumors and correlate with malignancy and aggressiveness, such as hexokinase 2 (HK2), pyruvate kinase isozyme M2 (PKM2), lactate dehydrogenase A (LDHA), and glucose transporter (GLUT) [6,7]. Glut1, which is the most widely expressed transporter of the 14 GLUTs, is known to act as the basal switch in tumor cell glycolysis [8]. Recent studies have reported that deregulation of Glut1 is involved in the biological processes of tumor cells, including survival, growth and metastasis [[9], [10], [11], [12]].