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Small supernumerary marker chromosomes (sSMC) are a heterogeneous group of structurally abnormal chromosomes, with an incidence of 0,044% in newborns that increases up to almost 7 times in developmentally retarded patients. sSMC from all 24 chromosome have been described, most of them originate from the group of the acrocentric, with around half deriving from the chromosome 15. Non-acrocentric sSMC are less common and, in the 30 percent of the cases, are associated with phenotypic effect. Complex sSMC consist of chromosomal material derived from more than one chromosome. Genotype-phenotype correlations in patients with sSMC are difficult to assess. Clinical features depend on factors such as its size, genetic content, the involvement of imprinted genes which may be influenced by uniparental disomy and the level of mosaicism. Trisomy of the short arm of chromosome 18 (18p) is an infrequent finding and does not appear to be associated with a specific syndrome. However, mild intellectual disability with or witdard to characterize complex sSMC, and supplies additional elements for genetic counselling.
Our case provides additional information about phenotypic effects of pure trisomy 18p, confirms chromosomal microarray analysis as gold standard to characterize complex sSMC, and supplies additional elements for genetic counselling.Lockdowns can be an effective pandemic response strategy that can buy much needed time to slow disease transmission and adequately scale up preventative, diagnostic, and treatment capacities. YUM70 However, the broad restrictive measures typically associated with lockdowns, though effective, also comes at a cost - imposing significant social and economic burdens on individuals and societies, especially for those in low- and middle-income countries (LMICs). Like most high-income countries (HICs), many LMICs initially adopted broad lockdown strategies for COVID-19 in the first wave of the pandemic. While many HICs experiencing subsequent waves have returned to employing lockdown strategies until they can receive the first shipments of COVID-19 vaccine, many LMICs will likely have to wait much longer to get comparable access for their own citizens. In leaving LMICs vulnerable to subsequent waves for a longer period of time without vaccines, there is a risk LMICs will be tempted to re-impose lockdown measures in the meantime. In response to the urgent need for more policy development around the contextual challenges involved in employing such measures, we propose some strategies LMICs could adopt for safe and responsible lockdown entrance/exit or to avoid re-imposing coercive restrictive lockdown measures altogether.
The study aimed to evaluate the relationship of IL-1B/IL-1RN polymorphisms to the predisposition of head and neck cancer (HNC) in a Chinese Han population.
Nine single-nucleotide polymorphisms (SNPs) in IL-1B/IL-1RN were genotyped based on Agena MassARRAY platform. Logistic regression models were used to analyze the genetic association between these SNPs and HNC risk by calculating odds ratios (ORs) and 95% confidence intervals (CI). Haplotype analysis were performed using Haploview program and logistic regression model.
The genetic association between rs1143643 in IL-1B and the higher risk of HNC was found (OR = 1.23, 95% CI 1.04-1.46) in the overall. IL-1RN rs17042888 was related to a reduced risk of HNC in the subjects aged > 46years (OR = 0.70, 95% CI 0.50-0.98) and in females (OR = 0.71, 95% CI 0.52-0.98), while rs1143643 increased the predisposition of HNC among females (OR = 1.76, 95% CI 1.13-2.74). Furthermore, rs1143643 had an increased susceptibility to thyroid carcinoma (OR = 1.61, 95% CI 1.10-2.34). Moreover, compared with stage I-II, the frequency of IL-1RN rs452204-AG genotype was lower in patients with stage III-IV.
IL-1B (rs1143643) and IL-1RN (rs17042888 and rs452204) polymorphisms might be related to the individual susceptibility of HNC in the Chinese Han population. These results might help to improve the understanding of IL-1B and IL-1RN genes in the occurrence of HNC.
IL-1B (rs1143643) and IL-1RN (rs17042888 and rs452204) polymorphisms might be related to the individual susceptibility of HNC in the Chinese Han population. These results might help to improve the understanding of IL-1B and IL-1RN genes in the occurrence of HNC.
There is an increasing global trend towards urbanization. In general, there are less food access issues in urban than rural areas, but this "urban advantage" does not benefit the poorest who face disproportionate barriers to accessing healthy food and have an increased risk of malnutrition.
This systematic literature review aimed to assess urban poverty as a determinant of access to a healthy diet, and to examine the contribution of urban poverty to the nutritional status of individuals.
Following the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) methodology, our review included quantitative and qualitative studies published in English or in Spanish between 2000 and 2019. The articles were eligible if they focused on nutrition access (i.e. access to a healthy diet) or nutrition outcomes (i.e., anemia, overweight and obesity, micronutrient deficiency, micronutrient malnutrition) among urban poor populations. Articles were excluded if they did not meet pre-established criterin accessing healthy diets and its association with poorer nutrition outcomes, hence, questioning the "urban advantage". A conceptual framework emerging from the existing literature is proposed to guide future studies and policies.
PROSPERO Registration number CRD42018089788 .
PROSPERO Registration number CRD42018089788 .Tumor necrosis factor-related apoptosis-inducing ligand (TRAIL) can induce substantial cytotoxicity in tumor cells but rarely exert cytotoxic activity on non-transformed cells. In the present study, we therefore evaluated interactions between TRAIL and IER3 via co-immunoprecipitation and immunofluorescence analyses, leading us to determine that these two proteins were able to drive the apoptotic death of hepatocellular carcinoma (HCC) cells and to disrupt their proliferative and migratory abilities both in vitro and in vivo. From a mechanistic perspective, we determined that TRAIL and IER3 were capable of inhibiting Wnt/β-catenin signaling. Together, these results indicate that TRAIL can control the pathogenesis of HCC at least in part via interacting with IER3 to inhibit Wnt/β-catenin signaling, thus indicating that this TRAIL/IER3/β-catenin axis may be a viable therapeutic target in HCC patients.
Homepage: https://www.selleckchem.com/products/yum70.html
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