Predictive factors of genetic diagnosis and real-life impact of next-generation sequencing for children with epilepsy.

OBJECTIVE: Identify the predictive variables of genetic pathogenic results and the impact of test results on epilepsy diagnosis and management. METHODS: Analytical observational design evaluated 130 patients with epilepsy that had performed genetic testing over January 2017 to July 2022. RESULTS: There was a gradual increase in the number of exams performed over the years. The frequency of pathogenic results was 34% (n = 44/130), 8 altered genes with 54% (n = 24/44) of the results. The tests were more positive in patients with developmental delay and/or regression (p = .01). None of the other factors analyzed were associated with higher diagnostic yield. The age at onset of epilepsy brought diagnostic yield to the test (p = .041). Patients with negative genetic test had a reduction in the number of electroencephalograms performed before and after the test (respectively, 3.80 ± 6.37 and .84 ± 1.67; p < .001). SIGNIFICANCE: Facing a large proportion of patients with unexplained epilepsy have a genetic cause a genetic test has the potential to reduce the use of unnecessary diagnostic tests, improve patient outcomes by identifying targeted treatments, and provide families with genetic counseling and risk assessment. But an early genetic testing can be crucial to reach these goals. Even in cases where the genetic test is negative, the study suggests that it still has important implications for patient care and management.

Nutrition, Cancer and Personalized Medicine.

Cancer is a complex group of diseases where different signaling pathways have been found to be deregulated, mainly related to cell proliferation, angiogenesis, metastasis, evasion of apoptosis and insensitivity to anti-growth sings among others. Diet plays a fundamental role in the treatment of the oncological patients, we must be aware that food can interact with certain types of cancer therapy. On the other hand, cancer therapies sometimes affect the patient's sense of smell, taste, appetite, gastric capacity or nutrient absorption, which often results in malnutrition due to the lack of essential nutriments. In this chapter we will review the effect of different metabolic disorders in cancer and mechanisms of action of some phytochemicals found in different foods like resveratrol, EGCG, curcumin and lycopene.