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71.
Gilles Morin Valrie Biancalana Andoni Echaniz‐Laguna Jean‐Baptiste Noury Xavire Lornage Maurizio Moggio Michela Ripolone Raffaella Violano Pascale Marcorelles Denis Marchal Florence Renaud Claude‐Alain Maurage Cline Tard Jean‐Marie Cuisset Jocelyn Laporte Johann Bhm 《Human mutation》2020,41(1):17-37
Calcium (Ca2+) acts as a ubiquitous second messenger, and normal cell and tissue physiology strictly depends on the precise regulation of Ca2+ entry, storage, and release. Store‐operated Ca2+ entry (SOCE) is a major mechanism controlling extracellular Ca2+ entry, and mainly relies on the accurate interplay between the Ca2+ sensor STIM1 and the Ca2+ channel ORAI1. Mutations in STIM1 or ORAI1 result in abnormal Ca2+ homeostasis and are associated with severe human disorders. Recessive loss‐of‐function mutations impair SOCE and cause combined immunodeficiency, while dominant gain‐of‐function mutations induce excessive extracellular Ca2+ entry and cause tubular aggregate myopathy (TAM) and Stormorken syndrome (STRMK). TAM and STRMK are spectra of the same multisystemic disease characterized by muscle weakness, miosis, thrombocytopenia, hyposplenism, ichthyosis, dyslexia, and short stature. To date, 42 TAM/STRMK families have been described, and here we report five additional families for which we provide clinical, histological, ultrastructural, and genetic data. In this study, we list and review all new and previously reported STIM1 and ORAI1 cases, discuss the pathomechanisms of the mutations based on the known functions and the protein structure of STIM1 and ORAI1, draw a genotype/phenotype correlation, and delineate an efficient screening strategy for the molecular diagnosis of TAM/STRMK. 相似文献
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Umberto Volpe Hania Amin Olatunde O. Ayinde Alistair Burns Wai Chi Chan Renaud David Slavica Djukic Dejanovic Gorica Djokic Defne Eraslan Giulia A.L. Fischer Patricia Gracia-García Syed Usman Hamdani Changsu Han Hussain Jafri Roy A. Kallivayalil Roderick Leonard Kriekaart Ee Heok Kua Linda C.W. Lam Dusica Lecic-Tosevski Iracema Leroi Antonio Lobo Adriana Mihai Fareed Aslam Minhas Heena Mistry Afolakemi T. Ogundele Marcel G.M. Olde Rikkert Javier Olivera Claudia Palumbo Angela Parker Bojana Pejuskovic Florian Riese Philippe Robert Maya Semrau Gabriela Stoppe Sanu Sudhakar Andreea Raluca Tirintica Sehrish Tofique Chris Tsoi Lucas Wolski Irem Yalug Huali Wang Xin Yu Norman Sartorius 《International journal of geriatric psychiatry》2020,35(2):163-173
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76.
Philippe dAbadie Stephan Walrand Renaud Lhommel Michel Hesse Ivan Borbath Franois Jamar 《Current oncology (Toronto, Ont.)》2022,29(4):2422
Selective internal radiation therapy (SIRT) is part of the treatment strategy for hepatocellular carcinoma (HCC). Strong clinical data demonstrated the effectiveness of this therapy in HCC with a significant improvement in patient outcomes. Recent studies demonstrated a strong correlation between the tumor response and the patient outcome when the tumor-absorbed dose was assessed by nuclear medicine imaging. Dosimetry plays a key role in predicting the clinical response and can be optimized using a personalized method of activity planning (multi-compartmental dosimetry). This paper reviews the main clinical results of SIRT in HCC and emphasizes the central role of dosimetry for improving it effectiveness. Moreover, some patient and tumor characteristics predict a worse outcome, and toxicity related to SIRT treatment of advanced HCC patient selection based on the performance status, liver function, tumor characteristics, and tumor targeting using technetium-99m macro-aggregated albumin scintigraphy can significantly improve the clinical performance of SIRT. 相似文献
77.
Leo P. Renaud 《Trends in neurosciences》1987,10(12):498-502
Hypothalamic magnocellular neurosecretory cells (MNCs), which secrete vasopressin and oxytocin into the plasma, contain an array of intrinsic ionic and voltage-sensitive conductances that modulate action potential shapes, discharge frequencies and patterns. These conductances interact with osmotic and synaptically generated conductances, activated by a variety of transmitters and neuropeptides, which may retard spike generation or induce phasic and bursting discharge patterns, and thus provide more efficient hormone release in the neurohypophysis. In the rat, medullary noradrenergic and forebrain GABAergic neurons, as well as neurons located in a circumventricular structure, the subfornical organ, appear to constitute major pathways conveying visceral, osmotic and cardiovascular information to MNCs. 相似文献
78.
Severe infantile isolated exocrine pancreatic insufficiency caused by the complete functional loss of the SPINK1 gene 下载免费PDF全文
Kareen Billiemaz Renaud Touraine Claire Gay Sylvie Destombe David N. Cooper Hugues Patural Jian‐Min Chen Claude Férec 《Human mutation》2017,38(12):1660-1665
Exocrine pancreatic insufficiency (EPI) is rare in children, with most if not all cases occurring as part of syndromic conditions such as cystic fibrosis and Shwachman–Diamond syndrome. Here we report two cases, both presenting with severe EPI around 5 months of age. Characterized by diffuse pancreatic lipomatosis, they otherwise exhibited no remarkable deficiencies in other organs. Novel non‐identical homozygous variants (a deletion removing the entire SPINK1 gene and an insertion of a full‐length inverted Alu element into the 3′‐untranslated region of the SPINK1 gene) resulting in the complete functional loss of the SPINK1 gene (encoding pancreatic secretory trypsin inhibitor) were identified in each patient. Having correlated our findings with current knowledge of SPINK1's role in exocrine pancreas pathophysiology, we propose that complete and partial functional losses of the SPINK1 gene are associated with quite distinct phenotypes, the former causing a new pediatric disease entity of severe infantile isolated EPI. 相似文献
79.
Han Jo Kim Michael Steinhaus Ananth Punyala Sachin Shah Jonathan Charles Elysee Renaud Lafage Tom Riviera Guillermo Mendez Ajiri Ojadi Sharlynn Tuohy Sheeraz Qureshi Michael Urban Chad Craig Virginie Lafage Francis Lovecchio 《The spine journal》2021,21(5):753-764
BACKGROUND CONTEXTEnhanced recovery (ERAS) pathways can help hospitals maximize the incentives of bundled payment models while maintaining high-quality patient care. A key component of an enhanced recovery pathway is the ability to predictably reduce inpatient length of stay, as this is a critical component of the cost equation.PURPOSETo determine the efficacy of an enhanced recovery pathway on reducing length of stay after thoracolumbar adult deformity surgery.STUDY DESIGNSingle surgeon retrospective review of prospectively-collected data.PATIENT SAMPLEForty adult deformity patients who underwent ≥5 levels of fusion to the pelvis (two to L5) with a single surgeon before and after implementation of an ERAS pathway.METHODSThe pathway involved participation by anesthesiology, hospital medicine, and physical therapy, and was designed to achieve goals previously associated with decreased LOS (eg, EBL<1200 mL, procedure time <4.5 hours, avoidance of ICU postoperatively, and mobilization POD0-1). Patients were propensity-score matched 1:1 to a historical cohort (enhanced recovery [ER] and historical [H] cohorts), based on demographics, medical comorbidities, radiographic alignment parameters, and surgical factors. Outcomes were compared to determine the effect of the enhanced recovery pathway. Primary outcomes included LOS and 90-day complications and readmissions.RESULTSAfter matching, gender, BMI, ASA class, preoperative opioid dependence, day of surgery, sagittal alignment parameters, rate of revision surgery, three-column osteotomies, and interbody fusions were comparable between the cohorts (p>.05). In the ER cohort, there was reduced EBL (920±640 vs. 1437±555, p=.004) and no ER patient went to the ICU immediately following surgery, compared with 30% of H patients (p=.022). The ER cohort also had a greater number of patients ambulating by POD1 compared to the H cohort (100% vs. 55%, p=.010). ER patients had a shorter LOS (4.5±1.3 vs. 7.3±4.4 days, p=.010). A 90-day readmission and complications were comparable between the cohorts (p>.05).CONCLUSIONSThe creation of an ERAS pathway for patients undergoing thoracolumbar adult deformity surgery reduced length of stay without negatively affecting short-term morbidity and complications. Given the specificity of this pathway to a single surgeon and hospital, the resources and staffing changes that were instrumental in creating the pathway may not be generalizable to other centers. 相似文献
80.
Renaud de Tayrac Antoine Alves Michel Thérin 《International urogynecology journal》2007,18(5):513-520
The aims of this study were dual. First, to evaluate the feasibility of a sheep model as an animal model for vaginal surgery
with meshes. Second, to compare host response to two low-weight polypropylene (PP) meshes, a noncoated (Soft Prolene™, Gynecare,
Ethicon) and a coated mesh with an absorbable hydrophilic film (Ugytex™, Sofradim). Thirty-six 20×20 mm polypropylene meshes
(18 coated and 18 noncoated) were surgically implanted by the vaginal route in 12 adult ewes. Meshes were implanted in the
anterior (n=12) and the posterior vaginal compartments (n=24). Animals were killed 1 (n=6) and 12 (n=6) weeks after surgery. Postimplantation evaluation included macroscopical examination, histological and immunohistochemical
analysis and histomorphometrical measures of the distance between the meshes and the vaginal epithelium. The experimental
procedure was feasible in all cases. Vaginal erosions were observed twice as frequently with the noncoated-PP meshes (6/18,
33.3%) as with the coated-PP meshes (3/18, 16.7%), even if that difference was not significant (p=0.4). However, no differences were observed between the two meshes in terms of shrinkage, tissue ingrowth, inflammatory response,
and position of the mesh in the vaginal wall. The mechanism involved in the reduction of vaginal erosion could be due to the
lesser adhesion of the coated mesh on the vaginal wound during the early postoperative period. 相似文献