Transcriptome Analysis of Beta-Catenin-Related Genes in CD34+ Haematopoietic Stem and Progenitor Cells from Patients with AML.

Background: Acute myeloid leukaemia (AML) is a disease of the haematopoietic stem cells(HSCs) that is characterised by the uncontrolled proliferation and impaired differentiation of normal haematopoietic stem/progenitor cells. Several pathways that control the proliferation and differentiation of HSCs are impaired in AML. Activation of the Wnt/beta-catenin signalling pathway has been shown in AML and beta-catenin, which is thought to be the key element of this pathway, has been frequently highlighted. The present study was designed to determine beta-catenin expression levels and beta-catenin-related genes in AML. Methods: In this study, beta-catenin gene expression levels were determined in 19 AML patients and 3 controls by qRT-PCR. Transcriptome analysis was performed on AML grouped according to beta-catenin expression levels. Differentially expressed genes(DEGs) were investigated in detail using the Database for Annotation Visualisation and Integrated Discovery(DAVID), Gene Ontology(GO), Kyoto Encyclopedia of Genes and Genomes(KEGG), STRING online tools. Results: The transcriptome profiles of our AML samples showed different molecular signature profiles according to their beta-catenin levels(high-low). A total of 20 genes have been identified as hub genes. Among these, TTK, HJURP, KIF14, BTF3, RPL17 and RSL1D1 were found to be associated with beta-catenin and poor survival in AML. Furthermore, for the first time in our study, the ELOV6 gene, which is the most highly up-regulated gene in human AML samples, was correlated with a poor prognosis via high beta-catenin levels. Conclusion: It is suggested that the identification of beta-catenin-related gene profiles in AML may help to select new therapeutic targets for the treatment of AML.

Predictive value of systemic immune-inflammation index for cerebral reperfusion and clinical outcomes in patients with acute ischemic stroke undergoing endovascular treatment.

OBJECTIVE: The systemic immune inflammation (SII) index has been an excellent prognostic indicator in patients with acute ischemic stroke (AIS). In this study, we assessed the utility of the SII in predicting the prognosis and reperfusion status of patients with AIS who underwent endovascular treatment (EVT). PATIENTS AND METHODS: 123 consecutive AIS patients were enrolled in our study. The receiver-operating characteristics (ROC) curve was used to determine the cut-off value of SII for predicting unsuccessful cerebral reperfusion. Multivariate logistic regression analysis analyzed the association between SII and unsuccessful reperfusion rate after EVT. RESULTS: The median value of SII was significantly higher in patients with unsuccessful reperfusion compared to patients with successful reperfusion [2,029 (1,217-2,771) vs. 1,172 (680-2,145) respectively, p=0.003)]. A ROC curve analysis showed that the best cut-off value of SII for predicting unsuccessful reperfusion status was 1,690, with sensitivity and specificity of 71% and 69%, respectively. The area under the curve (AUC) was 0.673 (95% CI; 0.552-0.793). Multivariate analysis demonstrated that SII ≥ 1,690 value was an independent predictor of unsuccessful cerebral reperfusion and unfavorable clinical outcome after EVT (Hazard ratio - H.R.=3.713, 95% CI: 1.281-10.76, p=0.016, HR=2.28, 95% CI: 1.06-4.88, p=0.035, respectively). CONCLUSIONS: We suggested that SII is a potential indicator to predict the unsuccessful cerebral reperfusion and unfavorable clinical outcome for patients with AIS undergoing EVT.

[The obstetrics and gynaecology departments in the French public hospitals: an updated overview]. / État des lieux des services de gynécologie-obstétrique dans les centres hospitaliers publics français.

Restructuring the surgery and gynecology-obstetrics departments taking place now raise many interrogations. It appears as a mandatory necessity to some people and as a tribute to financial strategies to others to the detriment of quality and accessibility of care. Its effect is to clarify a good amount of socioeconomical and medical indicators. The plans of perinatality for the obstetrical aspect and the thresholds of activity for the surgical aspect constitute the major lines of these restructurings. A survey soliciting all the French public hospitals was used to assess the state of obstetrics and gynecology departments in the light of these recent restructurings. Medical demography, preserving and improving the quality and continuity of care, efficiency of the technical supports are discriminating criteria of the involved challenges. Such restructurings have an impact on the doctor's lives, which looks globally positive and a good omen to complete this remodeling process. The activity was safeguarded by a redistribution and a refocusing of institutions. One should not minimize the social impact of these changes, with a potential deterioration of working conditions (internal professional reclassifications, mobility obligation towards other sites). It thus appears that the deep changes which affect the small size institutions will be able to achieve well only if they are clearly done (information) and truly integrated in their medical project.

Partial trisomy due to a de novo duplication 22q11.1-22q13.1: a cat-eye syndrome variant with brain anomalies.

We report a case of partial trisomy 22q with de novo duplication of chromosomal region 22q11.1-22q13.1, also confirmed by microarray comparative genomic hybridization (Array-CGH) analysis. The fetus had interhemispheric cyst and corpus callosum agenesis diagnosed by MRI which has not been reported in the literature. This novel phenotype differs from the reported cat eye syndromes by the absence of heart defects and the presence of brain anomalies.