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排序方式: 共有936条查询结果,搜索用时 281 毫秒
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Jérôme Le Pavec Séverine Feuillet Olaf Mercier Pauline Pradère Gaëlle Dauriat Adrian Crutu Valentina Florea Laurent Savale Marilyne Levy Florent Laverdure François Stephan Dominique Fabre Mitilian Delphine David Boulate Sacha Mussot Sébastien Hascoët Damien Bonnet Marc Humbert Elie Fadel 《The Journal of heart and lung transplantation》2021,40(7):652-661
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Direct intraoral fabrication of multiple post-coping restorations for an overdenture in the same arch can be a time-consuming chairside clinical procedure. In addition, accurate intraoral fabrication of resin patterns with intracrevicular margins is not always possible as a result of limited access. This article presents a direct-indirect method that uses an elastic cast for fabrication of multiple post-coping restorations with intracrevicular margins. Custom post patterns are fabricated directly in the root canal with autopolymerizing resin (Duralay). An impression is made of the remaining tooth structure, which also includes the post patterns, and a flexible cast is poured chairside. The cast is available within 6 to 8 minutes of impression making and can be trimmed similar to a stone die. The procedure also provides flexibility that allows separation of the cast from the impression without fracture of the custom post pattern or cast. The fabrication of the post-coping restoration can be completed in the laboratory, or if necessary, completed chairside and verified intraorally, before dismissing the patient. 相似文献
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Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant 下载免费PDF全文
Daniel J. Pomerantz Sacha Ferdinandusse Joy Cogan David N. Cooper Tyler Reimschisel Amy Robertson Anna Bican Tracy McGregor Jackie Gauthier David S. Millington Jaime L. W. Andrae Michael R. Tschannen Daniel C. Helbling Wendy M. Demos Simone Denis Ronald J. A. Wanders John N. Newman Rizwan Hamid John A. Phillips III Collaborators of UDN 《American journal of medical genetics. Part A》2018,176(3):692-698
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Clinical,biochemical, and genetic features of four patients with short‐chain enoyl‐CoA hydratase (ECHS1) deficiency 下载免费PDF全文
Patricia E. Fitzsimons Charlotte L. Alston Penelope E. Bonnen Joanne Hughes Ellen Crushell Michael T. Geraghty Martine Tetreault Peter O'Reilly Eilish Twomey Yusra Sheikh Richard Walsh Hans R. Waterham Sacha Ferdinandusse Ronald J. A. Wanders Robert W. Taylor James J. Pitt Philip D. Mayne 《American journal of medical genetics. Part A》2018,176(5):1115-1127
Short‐chain enoyl‐CoA hydratase (SCEH or ECHS1) deficiency is a rare inborn error of metabolism caused by biallelic mutations in the gene ECHS1 (OMIM 602292). Clinical presentation includes infantile‐onset severe developmental delay, regression, seizures, elevated lactate, and brain MRI abnormalities consistent with Leigh syndrome (LS). Characteristic abnormal biochemical findings are secondary to dysfunction of valine metabolism. We describe four patients from two consanguineous families (one Pakistani and one Irish Traveler), who presented in infancy with LS. Urine organic acid analysis by GC/MS showed increased levels of erythro‐2,3‐dihydroxy‐2‐methylbutyrate and 3‐methylglutaconate (3‐MGC). Increased urine excretion of methacrylyl‐CoA and acryloyl‐CoA related metabolites analyzed by LC‐MS/MS, were suggestive of SCEH deficiency; this was confirmed in patient fibroblasts. Both families were shown to harbor homozygous pathogenic variants in the ECHS1 gene; a c.476A > G (p.Gln159Arg) ECHS1variant in the Pakistani family and a c.538A > G, p.(Thr180Ala) ECHS1 variant in the Irish Traveler family. The c.538A > G, p.(Thr180Ala) ECHS1 variant was postulated to represent a Canadian founder mutation, but we present SNP genotyping data to support Irish ancestry of this variant with a haplotype common to the previously reported Canadian patients and our Irish Traveler family. The presence of detectable erythro‐2,3‐dihydroxy‐2‐methylbutyrate is a nonspecific marker on urine organic acid analysis but this finding, together with increased excretion of 3‐MGC, elevated plasma lactate, and normal acylcarnitine profile in patients with a Leigh‐like presentation should prompt consideration of a diagnosis of SCEH deficiency and genetic analysis of ECHS1. ECHS1 deficiency can be added to the list of conditions with 3‐MGA. 相似文献
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Sacha Reichman Angélique Terray Amélie Slembrouck Céline Nanteau Ga?l Orieux Walter Habeler Emeline F. Nandrot José-Alain Sahel Christelle Monville Olivier Goureau 《Proceedings of the National Academy of Sciences of the United States of America》2014,111(23):8518-8523
Progress in retinal-cell therapy derived from human pluripotent stem cells currently faces technical challenges that require the development of easy and standardized protocols. Here, we developed a simple retinal differentiation method, based on confluent human induced pluripotent stem cells (hiPSC), bypassing embryoid body formation and the use of exogenous molecules, coating, or Matrigel. In 2 wk, we generated both retinal pigmented epithelial cells and self-forming neural retina (NR)-like structures containing retinal progenitor cells (RPCs). We report sequential differentiation from RPCs to the seven neuroretinal cell types in maturated NR-like structures as floating cultures, thereby revealing the multipotency of RPCs generated from integration-free hiPSCs. Furthermore, Notch pathway inhibition boosted the generation of photoreceptor precursor cells, crucial in establishing cell therapy strategies. This innovative process proposed here provides a readily efficient and scalable approach to produce retinal cells for regenerative medicine and for drug-screening purposes, as well as an in vitro model of human retinal development and disease.Irreversible blindness caused by retinal diseases, such as inherited retinopathies, age-related macular degeneration (AMD), or glaucoma, is mainly due to the impairment or loss of function of photoreceptor cells, supporting retinal pigmented epithelium (RPE) or retinal ganglion cells (RGCs). Rescuing the degenerated retina is a major challenge for which specific cell replacement is one of the most promising approaches (1, 2). Pluripotent stem cells, like human embryonic stem cells (hESCs) or induced pluripotent stem cells (hiPSCs), have the ability to be expanded indefinitely in culture and could be used as an unlimited source of retinal cells for the treatment of retinal degenerative diseases (3, 4). Several publications have indicated that hESCs and hiPSCs can be differentiated into RPE cells spontaneously after fibroblast growth factor (FGF) 2 removal (5–7) or by different floating aggregate methods (8–11). Concerning neural retinal cells, a growing body of convergent data has demonstrated the ability of hESCs or hiPSCs to be committed into the neural retinal lineage and further differentiated into cells expressing photoreceptor markers (12–15). Recent innovative approaches using 3D cultures from embryoid bodies (EBs) of hESCs or hiPSCs allowed the self-formation of optic cup (OC) structures (16) or the generation of optic vesicle (OV)-like structures (17), depending on the addition of exogenous molecules and different substrates used. These protocols require multiple steps and trained handling, which are not always compatible with the manufacturing process for therapeutic approach or drug screening that need a large-scale production of cells of interest. Therefore, very simple and reliable approaches minimizing the use of exogenous molecules should be developed to generate hESCs or hiPSC-derived retinal cells.In the present study, we report a new retinal differentiation process using confluent hiPSCs, without cell clumps or EB formation and in the absence of Matrigel or serum. We demonstrate that integration-free hiPSCs derived from adult human dermal fibroblasts (AHDFs) cultured in proneural medium can simultaneously generate RPE cells and self-forming neural retinal (NR)-like structures within 2 wk and that, when switched to floating cultures, structures containing retinal progenitor cells (RPCs) can differentiate into all retinal cell types, including RGCs and precursors of photoreceptors, needed for therapeutic applications. 相似文献
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