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e timing, safety, and efficacy of statins and antiplatelet drugs among ICH survivors could help better guide risk mitigation in this population. Lafora disease (LD) is characterized by progressive myoclonus, refractory epilepsy, and cognitive deterioration. This complex neurodegenerative condition is caused by pathogenic variants in EPM2A/EPM2B genes, encoding two essential glycogen metabolism enzymes known as laforin and malin. Long-term follow-up data are lacking. We describe the clinical features and genetic findings of a cohort of 26 Italian patients with a long clinical follow-up. Patients with EPM2A/EPM2B pathogenic variants were identified by direct gene sequencing or gene panels with targeted re-sequencing. Disease progression, motor functions, and mental performance were assessed by a simplified disability scale. Spontaneous/action myoclonus severity was scored by the Magaudda Scale. Age range was 12.2-46.2years (mean25.53±9.14). Age at disease onset ranged from 10 to 22years (mean14.04±2.62). The mean follow-up period was 11.48±7.8years. Twelve out of the 26 (46%) patients preserved walking ability and 13 (50%) maintained speech. A slower disease progression with preserved ambulation and speech after ≥4years of follow-up was observed in 1 (11%) out of the 9 (35%) EPM2A patients and in 6 (35%) out of the 17 (65%) EPM2B patients. Follow-up was >10years in 7 (41.2%) EPM2B individuals, including two harbouring the homozygous p.(D146N) pathogenic variant. This study supports an overall worse disease outcome with severe deterioration of ambulation and speech in patients carrying EPM2A mutations. However, the delayed onset of disabling symptoms observed in the EPM2B subjects harbouring the p.(D146N) pathogenic variant suggests that the underlying causative variant may still influence LD severity. This study supports an overall worse disease outcome with severe deterioration of ambulation and speech in patients carrying EPM2A mutations. However, the delayed onset of disabling symptoms observed in the EPM2B subjects harbouring the p.(D146N) pathogenic variant suggests that the underlying causative variant may still influence LD severity.In acute myeloid leukemia, t(8;21) detected with a frequency of 10% is associated with good prognosis. However, variant t(8;21) is observed in 4% of these cases, and although the prognostic effects of these variant translocations have not been clearly revealed, there are findings that they affect the prognosis poorly. Here, we report on a 39 years old man, detected 4-way varyant t(8;21) which include relocalization of RUNX1/RUNX1T1 fusion gene, and loss of Y chromosome. RT-PCR also confirmed RUNX1/RUNX1T1 fusion transcript. Additionally, D820G and N822K mutations on KIT gene and mut B on NMP1 gene were detected. A complete remission could not achieved after first chemotherapy treatment. Due to primary resistance and variant of t(8;21), stem cell transplantation was performed. The variant translocation we have reported is unique and also the case is the second case that was reported in the literature in terms of the relocation of the AML1/ETO fusion gene. Since c-KIT mutations and LOY were also observed, it is not possible to predict the prognosis. To highlight the importance of variant translocations and relocalization of fusion gene, more cytogenetic and molecular data are needed. The aim of this study was to investigate the association between the magnitude of weight loss (WL) and serum concentrations of the main adipocytokines and appetite-regulating hormones in adolescents with obesity. After completion of informed consent,108 adolescents with obesity (14-19 y of age; postpubertal) were submitted to clinical, nutritional, psychological, physical exercise, and physiotherapy support for 1 y. Body composition (BC) and plasma levels of neuropeptides (neuropeptide Y [NPY], agouti-related peptide [AgRP], and α-melanocyte-stimulating hormone [α-MSH]) and leptin were measured at baseline and post-intervention. After therapy, adolescents who lost <10% body weight and <10% body weight (were compared. Both groups presented improvements in BC and reduced leptin. The Δα-MSH, Δα-MSH/AgRP ratio, and Δα-MSH/NPY ratio were lower and AgRP and NPY variations were higher in the low weight loss group. The leptin concentration was close to normal in the high weight loss only. The ΔWeight, Δα-MSH and Δleptin were associated with body fat loss by multiple linear regressions for all samples. Weight loss >10% seems to reverse obesity-induced hyperleptinemia while stabilizing the neuropeptides that control appetite in adolescents with obesity. We were able to produce a prognostic mathematical model to predict body fat loss using weight, leptin, and α-MSH variations. 10% seems to reverse obesity-induced hyperleptinemia while stabilizing the neuropeptides that control appetite in adolescents with obesity. We were able to produce a prognostic mathematical model to predict body fat loss using weight, leptin, and α-MSH variations. Childhood obesity is a critical health issue. The etiology of childhood obesity is multifactorial, with age, gender, race/ethnicity, and socioeconomic status interacting to affect risk. Food insecurity is known to be associated with risk of childhood obesity, but the body of evidence regarding Koreans is lacking. This study investigated the association between childhood obesity and household food insecurity in Koreans. Other lifestyle and nutritional factors associated with obesity were also examined. Using data from the Korean National Health and Nutrition Examination Survey, a cross-sectional study was conducted with 1527 boys and 1366 girls. A comparison of general characteristics and nutritional intake between the groups was made using Student's t tests, χ tests, and general linear models. The association between childhood obesity and food insecurity was estimated with logistic regression models, and presented with odds ratios and 95% confidence intervals either with or without covariates. Boys who were obese dined out less frequently and engaged less in regular exercise, but no differences in nutrition intake were observed between children who were and were not obese. Girls who were obese were less likely to have a caregiver and consumed a higher percentage of energy from protein. Boys experiencing household food insecurity were less likely to be obese (adjusted odds ratio, 0.25; 95% confidence interval, 0.06-0.99), but girls with food insecurity were at three times higher risk of obesity (adjusted odds ratio, 3.00; 95% confidence interval, 1.23-7.31). Differential lifestyle factors are associated with obesity phenotypes in boys and girls. https://www.selleckchem.com/products/ipi-549.html Food insecurity also showed a contrasting association with obesity risk by gender in young Koreans. Differential lifestyle factors are associated with obesity phenotypes in boys and girls. Food insecurity also showed a contrasting association with obesity risk by gender in young Koreans.
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