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showing 10 items of 216 documents
9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping
2016
International audience; The increasing use of array-CGH in malformation syndromes with intellectual disability could lead to the description of new contiguous gene syndrome by the analysis of the gene content of the microdeletion and reverse phenotyping. Thanks to a national and international call for collaboration by Achropuce and Decipher, we recruited four patients carrying de novo overlapping deletions of chromosome 9q33.3q34.11, including the STXBP1, the LMX1B and the ENG genes. We restrained the selection to these three genes because the effects of their haploinsufficency are well described in the literature and easily recognizable clinically. All deletions were detected by array-CGH …
Chronic myelogenous leukaemia exosomes modulate bone marrow microenvironment through activation of epidermal growth factor receptor
2016
Abstract Chronic myelogenous leukaemia (CML) is a clonal myeloproliferative disorder. Recent evidence indicates that altered crosstalk between CML and mesenchymal stromal cells may affect leukaemia survival; moreover, vesicles released by both tumour and non‐tumour cells into the microenvironment provide a suitable niche for cancer cell growth and survival. We previously demonstrated that leukaemic and stromal cells establish an exosome‐mediated bidirectional crosstalk leading to the production of IL8 in stromal cells, thus sustaining the survival of CML cells. Human cell lines used are LAMA84 (CML cells), HS5 (stromal cells) and bone marrow primary stromal cells; gene expression and protei…
GDF11 exhibits tumor suppressive properties in hepatocellular carcinoma cells by restricting clonal expansion and invasion.
2019
Growth differentiation factor 11 (GDF11) has been characterized as a key regulator of differentiation in cells that retain stemness features, despite some controversies in age-related studies. GDF11 has been poorly investigated in cancer, particularly in those with stemness capacity, such as hepatocellular carcinoma (HCC), one of the most aggressive cancers worldwide. Here, we focused on investigating the effects of GDF11 in liver cancer cells. GDF11 treatment significantly reduced proliferation, colony and spheroid formation in HCC cell lines. Consistently, down-regulation of CDK6, cyclin D1, cyclin A, and concomitant upregulation of p27 was observed after 24 h of treatment. Interestingly,…
Trematode cercariae as prey for zooplankton: effect on fitness traits of predators.
2019
AbstractRemoval of parasite free-living stages by predators has previously been suggested an important factor controlling parasite transmission in aquatic habitats. Experimental studies of zooplankton predation on macroparasite larvae are, however, scarce. We tested whether trematode cercariae, which are often numerous in shallow waters, are suitable prey for syntopic zooplankters. Feeding rates and survival of freshwater cyclopoids (Megacyclops viridis, Macrocyclops distinctus), calanoids (Arctodiaptomus paulseni), cladocerans (Sida crystallina) and rotifers Asplanchna spp., fed with cercariae of Diplostomum pseudospathaceum, a common fish trematode, were studied. In additional long-term e…
Electromagnetic distal targeting system does not reduce the overall operative time of the intramedullary nailing for humeral shaft fractures
2018
Abstract Introduction We aimed to evaluate the efficacy of the use of the electromagnetic distal targeting system in treating humeral shaft fracture. Methods Patients were divided in: Group 1) patients that received a distal locking screw placement following the free-hand technique; Group 2) patients in which the distal locking screw was performed using the SURESHOT device. Results No differences were noted comparing Group 1 (freehand) [71,9 range 40–135 min] to Group 2 (SURESHOT)[70, range 25–125 min]. Conclusion The use of the EM distal targeting system doesn't reduce the overall operative time of the humeral shaft fracture fixation using IMN.
Furcocercous cercariae (Trematoda) from freshwater snails in Central Finland
2007
AbstractA total of eight species of furcocercous cercariae of four families (Strigeidae, Diplostomidae, Schistosomatidae and Sanguinicolidae), were found in 2005 in Lake Konnevesi in Central Finland in four snail species (Valvata macrostoma, Lymnaea stagnalis, Bathyomphalus contortus and Planorbarius corneus). Australapatemon burti (Miller, 1923), Australapatemon sp., Cotylurus brevis Dubois et Rausch, 1950, Cercaria spinulosa Ginetsinskaya, 1959 and Sanguinicola sp. are new species records for Finland. Ichthyocotylurus variegatus (Creplin, 1825) and Bilharziella polonica (Kowalewski, 1895) were first recorded as cercariae in Finland. The most common cercariae were A. burti (prevalence 13.3…
2019
Global changes promote the spread of infectious diseases worldwide. In this context, tropical urogenital schistosomiasis is now permanently established in Corsica since its first emergence in 2013. The local persistence of the tropical pathogens (schistosomes) responsible for urogenital schistosomiasis at such latitudes might be explained by (i) the presence of its intermediate host, the snail Bulinus truncatus, (ii) the recurrent local reseeding of schistosomes by their vertebrate hosts (either human or animal) every summer, and/or (iii) the maintenance and survival of schistosomes within their snail hosts over winter. In this study we conducted an ecological experiment to assess the abili…
The transcription factor ZEB1 (deltaEF1) promotes tumour cell dedifferentiation by repressing master regulators of epithelial polarity.
2007
Epithelial to mesenchymal transition (EMT) is implicated in the progression of primary tumours towards metastasis and is likely caused by a pathological activation of transcription factors regulating EMT in embryonic development. To analyse EMT-causing pathways in tumouri-genesis, we identified transcriptional targets of the E-cadherin repressor ZEB1 in invasive human cancer cells. We show that ZEB1 repressed multiple key determinants of epithelial differentiation and cell–cell adhesion, including the cell polarity genes Crumbs3, HUGL2 and Pals1-associated tight junction protein. ZEB1 associated with their endogenous promoters in vivo, and strongly repressed promotor activities in reporter …
An evaluation of clinical, radiological and three-dimensional dental tomography findings in ectodermal dysplasia cases
2015
Background:This study aimed to review the results related to head and jaw disorders in cases of ectodermal dysplasia. The evaluation of ectodermal dysplasia cases was made by clincal examination and examination of the jaw and facial areas radiologically and on cone-beam 3-dimensional dental tomography (CBCT) images. Material and Methods: In the 36 cases evaluated in the study, typical clinical findings of pure hypohidrotic ectodermal displasia (HED) were seen, such as missing teeth, dry skin, hair and nail disorders. CBCT images were obtained from 12 of the 36 cases, aged 1.5- 45 years, and orthodontic analyses were made on these images. Results: The clinical and radiological evaluations de…
Exposure to toxic agents alters organic elemental composition in human fingernails.
2008
Abstract Background and objective: The human fingernail plate is highly keratinized. The keratin structure is held together by disulfide bonds. The organic elements sulfur and nitrogen occur almost exclusively in amino acids of the nail plate. This study analyzed whether occupational exposure to harmful chemical agents alters the organic elemental composition in fingernails. Subjects and methods: Participants were 71 occupationally exposed workers (49 hairdressers, 22 painters) and 49 unexposed controls. Aspects of exposure were assessed by questionnaire. Nail clippings of index and little fingers were analyzed for sulfur (S), nitrogen (N), carbon (C), and hydrogen (H) contents, using an au…