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排序方式: 共有1476条查询结果,搜索用时 669 毫秒
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Marion Imbert-Bouteille Frédéric Tran Mau Them Julien Thevenon Thomas Guignard Vincent Gatinois Jean-Baptiste Riviere Anne Boland Vincent Meyer Jean-François Deleuze Elodie Sanchez Florence Apparailly David Geneviève Marjolaine Willems 《European journal of medical genetics》2019,62(3):161-166
Alazami syndrome (AS) (MIM# 615071) is an autosomal recessive microcephalic primordial dwarfism (PD) with recognizable facial features and severe intellectual disability due to depletion or loss of function variants in LARP7. To date, 15 patients with AS have been reported. Here we describe two consanguineous Algerian sisters with Alazami PD due to LARP7 homozygous pathogenic variants detected by whole exome sequencing. By comparing these two additional cases with those previously reported, we strengthen the key features of AS: severe growth restriction, severe intellectual disability and some distinguishing facial features such as broad nose, malar hypoplasia, wide mouth, full lips and abnormally set teeth. We also report significant new findings enabling further delineation of this syndrome: disproportionately mild microcephaly, stereotypic hand wringing and severe anxiety, thickened skin over the hands and feet, and skeletal, eye and heart malformations. From previous reviews, we summarize the main etiologies of PD according to the involved mechanisms and cellular pathways, highlighting their clinical core features. 相似文献
3.
Philippe Hup Cline Rouveirol Isabel Brito Pierre Neuvial Philippe La Rosa Eric Viara Nicolas Stransky Gaëlle Pierron Elodie Mani Caroline Brennetot Isabelle Jannoueix Nadge Gruel Alain Aurias Olivier Delattre Franois Radvanyi Emmanuel Barillot 《European journal of medical genetics》2005,48(4):467-468
4.
Elodie Mordelet Heather A Davies Philippa Hillyer Ignacio A Romero David Male 《Endothelium》2007,14(1):7-15
Leukocyte migration across vascular endothelium is mediated by chemokines that are either synthesized by the endothelium or transferred across the endothelium from the tissue. The mechanism of transfer of two chemokines, CXCL10 (interferon gamma-inducible protein [IP]-10) and CCL2 (macrophage chemotactic protein [MCP]-1), was compared across dermal and lung microvessel endothelium and saphenous vein endothelium. The rate of transfer depended on both the type of endothelium and the chemokine. The permeability coefficient (Pe) for CCL2 movement across saphenous vein was twice the value for dermal endothelium and four times that for lung endothelium. In contrast, the Pe value for CXCL10 was lower for saphenous vein endothelium than the other endothelia. The differences in transfer rate between endothelia was not related to variation in paracellular permeability using a paracellular tracer, inulin, and immunoelectron microscopy showed that CXCL10 was transferred from the basal membrane in a vesicular compartment, before distribution to the apical membrane. Although all three endothelia expressed high levels of the receptor for CXCL10 (CXCR3), the transfer was not readily saturable and did not appear to be receptor dependent. After 30 min, the chemokine started to be reinternalized from the apical membrane in clathrin-coated vesicles. The data suggest a model for chemokine transcytosis, with a separate pathway for clearance of the apical surface. 相似文献
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Pagot E Fiedler S Cloetens P Bravin A Coan P Fezzaa K Baruchel J Härtwig J von Smitten K Leidenius M Karjalainen-Lindsberg ML Keyriläinen J 《Physics in medicine and biology》2005,50(4):709-724
Two x-ray phase contrast imaging techniques are compared in a quantitative way for future mammographic applications: diffraction enhanced imaging (DEI) and phase propagation imaging (PPI). DEI involves, downstream of the sample, an analyser crystal acting as an angular filter for x-rays refracted by the sample. PPI simply uses the propagation (Fresnel diffraction) of the monochromatic and partially coherent x-ray beam over large distances. The information given by the two techniques is assessed by theoretical simulations and compared at the level of the experimental results for different kinds of samples (phantoms and real tissues). The imaging parameters such as the energy, the angular position of the analyser crystal in the DEI case or the sample to detector distance in the PPI case were varied in order to optimize the image quality in terms of contrast, visibility and figure of merit. 相似文献
6.
J. Vatier C. Poitevin W. Riquet M. T. Vitre A. Olivier P. Martin S. Bonfils 《Inflammation research》1988,24(3-4):243-249
Measurements of acid and pepsin secretions and of histamine release in response to food alone or in combination with graded doses of antramine (AH), a molecular form of histamine isolated from antral mucosa, with or without somatostatin were performed simultaneously in dogs equipped with a denervated pouch.AH restored somatostatin-inhibited acid and pepsin secretions but with different intensities in regard to the different inhibitory levels induced by somatostatin.AH competitively antagonized somatostatin (1 g/kg/h) inhibition of acid cecretion, but when stronger levels of inhibition were achieved, AH restored weakly acid secretion. Recovery of pepsin secretion occured through a competitive mechanism between AH and somatostatin (1 and 2 g/kg/h). There was a close relationship between the secretory outputs and the integrated histamine responses; the slopes of the regression lines might be considered as reflecting the stimulatory activity of blood histamine on secreting cells. For acid secretion, this activity is similar in control and somatostatin (1 g/kg/h) tests, while for pepsin secretion it is identical in control and 1 or 2 g/kg/h somatostatin tests.One can speculate that the suppression of the somatostatin inhibitory effects by antramine, within the limits of physiological conditions, results from a competitive mechanism. 相似文献
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The prognosis of non small cell lung cancer (NSCLC) invading the diaphragm is poor, probably due to the richness of the lymphatic drainage of the diaphragm. The aim of this study was to determine mediastinal lymphatic efferents from the diaphragm. The diaphragms of 20 adult cadavers (77-104 years) were injected with a dye (modified Gerota's medium) to permit the lymph vessels to be catheterised and then dissected. Each stage of the dissection was described and photographed: 23 injections on the right and 25 on the left. Diaphragmatic lymph vessels passed to one of three lymph centres: posterior (paraaortic nodes, n = 16), anterior (juxtasternal nodes, n = 16) and mediastinal (visceral nodes, n = 16). From these lymph centres arose ascending lymph pathways: posteriorly to the thoracic duct (8/16), anteriorly along the internal thoracic vessels (10/16) and in the mediastinum to the peritracheobronchial nodes (6/10). Lymphatics from the diaphragm are abundant and drain towards mediastinal node lymph centres connecting to the blood stream via the thoracic duct. These lymph pathways are common with those of the pulmonary segments. Poor prognosis of NSCLC invading the diaphragm may be explained by the common lymphatic drainage of both the lung and diaphragm. 相似文献
9.
Mathilde Chataigner Marie Martin Cline Lucas Veronique Pallet Sophie Lay Alexis Mehaignerie Elodie Bouvret Anne-Laure Dinel Corinne Joffre 《Nutrients》2021,13(3)
Neuroinflammation constitutes a normal part of the brain immune response orchestrated by microglial cells. However, a sustained and uncontrolled production of proinflammatory factors together with microglial activation contribute to the onset of a chronic low-grade inflammation, leading to neuronal damage and cognitive as well as behavioral impairments. Hence, limiting brain inflammatory response and improving the resolution of inflammation could be particularly of interest to prevent these alterations. Dietary n-3 long chain polyunsaturated fatty acids (LC-PUFAs) and low molecular weight peptides are good candidates because of their immunomodulatory and proresolutive properties. These compounds are present in a fish hydrolysate derived from marine-derived byproducts. In this study, we compared the effect of an 18-day supplementation with this fish hydrolysate to a supplementation with docosahexaenoic acid (DHA) on lipopolysaccharide (LPS)-induced inflammation in mice. In response to peripherally injected LPS, the fish hydrolysate supplementation decreased the hippocampal mRNA expression of the proinflammatory cytokines IL-6 (p < 0.001), IL-1β (p = 0.0008) and TNF-α (p < 0.0001), whereas the DHA supplementation reduced only the expression of IL-6 (p = 0.004). This decline in proinflammatory cytokine expressions was associated with an increase in the protein expression of IκB (p = 0.014 and p = 0.0054 as compared to the DHA supplementation and control groups, respectively) and to a modulation of microglial activation markers in the hippocampus. The beneficial effects of the fish hydrolysate could be due in part to the switch of the hippocampal oxylipin profile towards a more anti-inflammatory profile as compared to the DHA supplementation. Thus, the valorization of fish byproducts seems very attractive to prevent and counteract neuroinflammation. 相似文献
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