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by Keyword: Childhood
Williams, MI, Donohue, KJ, Sanz, P, Messahel, S, Serratosa, JM, Duran, J, Michelucci, R, Muccioli, L, Delgado-Escueta, A, Nguyen, VHV, Minassian, BA, Gentry, MS, (2025). The 9th annual Lafora science symposium: a rare epilepsy community makes progress towards clinical readiness Epilepsy & Behavior 171, 110654 
Lafora disease (LD) is a fatal childhood progressive myoclonus epilepsy and glycogen storage disease that is caused by recessive mutations in either EPM2A or EPM2B. The hallmarks of LD are cytoplasmic, aberrant glycogen-like aggregates, called Lafora bodies (LBs), that drive disease progression. The 9th Annual Lafora Science Symposium was held in San Diego, California and brought together over 70 researchers, clinicians, academic trainees, and friends and family members of patients with LD and 80 attendees joined virtually. This symposium focused primarily on international collaborations for therapeutic development and biomarker identification and strategies for preparing the Lafora community for upcoming clinical trials.
JTD Keywords: Childhood dementia, Cytoplasmic glycogen, Efficacy, Gene, Glycogen, Glycogen storage disease, Lafora disease, Mutations, Myoclonus epilepsy, Phosphatase, Progressive myoclonus epilepsy
Cereta, AD, Oliveira, VR, Costa, IP, Guimaraes, LL, Afonso, JPR, Fonseca, AL, de Sousa, ART, Silva, GAM, Mello, DACPG, de Oliveira, LVF, da Palma, RK, (2021). Early Life Microbial Exposure and Immunity Training Effects on Asthma Development and Progression Frontiers Of Medicine 8, 662262
Asthma is the most common inflammatory disease affecting the lungs, which can be caused by intrauterine or postnatal insults depending on the exposure to environmental factors. During early life, the exposure to different risk factors can influence the microbiome leading to undesired changes to the immune system. The modulations of the immunity, caused by dysbiosis during development, can increase the susceptibility to allergic diseases. On the other hand, immune training approaches during pregnancy can prevent allergic inflammatory diseases of the airways. In this review, we focus on evidence of risk factors in early life that can alter the development of lung immunity associated with dysbiosis, that leads to asthma and affect childhood and adult life. Furthermore, we discuss new ideas for potential prevention strategies that can be applied during pregnancy and postnatal period.
JTD Keywords: asthma, dysbiosis, early life immunity, lung microbiome, Adulthood, Antibiotic exposure, Asthma, Childhood, Disease, Disease exacerbation, Dysbiosis, Early life immunity, Gut microbiome, Human, Immunity, Intestine flora, Lung development, Lung microbiome, Lung microbiota, Nonhuman, Perinatal period, Pregnancy, Prevention, Prevention strategies, Review, Risk, Risk factor, Sensitization, Supplementation, Vitamin-d, Wheeze
