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991.
Neven B Valayannopoulos V Quartier P Blanche S Prieur AM Debré M Rolland MO Rabier D Cuisset L Cavazzana-Calvo M de Lonlay P Fischer A 《The New England journal of medicine》2007,356(26):2700-2703
Mevalonic aciduria is a rare, inborn error of isoprene biosynthesis characterized by severe, periodic attacks of fever and inflammation, developmental delay, ataxia, and dysmorphic features. This autosomal recessive disease is caused by a mutation in the mevalonate kinase gene that severely reduces mevalonate kinase activity. A 3-year-old boy with mevalonic aciduria whose condition had failed to improve with antiinflammatory treatment underwent allogeneic bone marrow transplantation from an HLA-identical sister who was a heterozygous carrier of the mutant gene. We observed sustained remission of febrile attacks and inflammation during a 15-month follow-up period. 相似文献
992.
Tordjman S Drapier D Bonnot O Graignic R Fortes S Cohen D Millet B Laurent C Roubertoux PL 《Behavior genetics》2007,37(1):61-78
Development of animal models is a crucial issue in biological psychiatry. Animal models provide the opportunity to decipher
the relationships between the nervous system and behavior and they are an obligatory step for drug tests. Mouse models or
rat models to a lesser extent could help to test for the implication of a gene using gene targeting or transfecting technologies.
One of the main problem for the development of animal models is to define a marker of the psychiatric disorder. Several markers
have been suggested for schizophrenia and autism, but for the moment no markers or etiopathogenic mechanisms have been identified
for these disorders. We examined here animal models related to schizophrenia and autism and discussed their validity and limitations
after first defining these two disorders and considering their similarities and differences. Animal models reviewed in this
article test mainly behavioral dimensions or biological mechanisms related to autistic disorder or schizophrenia rather than
providing specific categorical models of autism or schizophrenia. Furthermore, most of these studies focus on a behavioral
dimension associated with an underlying biological mechanism, which does not correspond to the complexity of mental disorders.
It could be useful to develop animal models relevant to schizophrenia or autism to test a behavioral profile associated with
a biological profile. A multi-trait approach seems necessary to better understand multidimensional disorders such as schizophrenia
and autism and their biological and clinical heterogeneity. Finally, animal models can help us to clarify complex mechanisms
and to study relationships between biological and behavioral variables and their interactions with environmental factors.
The main interest of animal models is to generate new pertinent hypotheses relevant to humans opening the path to innovative
research.
Edited by Gene Fisch 相似文献
993.
Timothy Madden Marcos de Lima Neil Thapar John Nguyen Soonja Roberson Daniel Couriel Betty Pierre Elizabeth J Shpall Roy B Jones Richard E Champlin Borje S Andersson 《Biology of blood and marrow transplantation》2007,13(1):56-64
In pretransplantation therapy busulfan is typically given every 6 hours. We infused busulfan once daily at 130 mg/m2 for 4 days, performing pharmacokinetic analyses on plasma concentration-time data (n = 60 patients) on days 1, 3, and/or 4. Mean (percent coefficient of variation) maximum concentration, volume of distribution, half-life, and clearance were 3.6 microg/mL (13.8%), 22.6 L/m2 (20.2%), 2.73 hours (27.5%), and 109 mL/min/m2 (26%), respectively. The mean (percent coefficient of variation) and median daily areas under the curve were 4873 (21.8%) and 4871 microM x minute. Intrapatient variability in day-to-day estimated clearance was <20%, without day-to-day drug accumulation. The pharmokinetic parameters were compared with those from 47 patients given intravenous busulfan at approximately 0.8 mg/kg (approximately 32 mg/m2) every 6 hours. We conclude that there is (1) a dose proportionality based on mean and median areas under the curve, (2) unchanged estimated clearance with a 4-fold increase in dose and a 2.5-fold difference in dosing rate, (3) negligible variability in dose-to-dose pharmacokinetics and negligible interdose accumulation with once-daily administration, and (4) no change in pharmokinetic parameter(s) with concomitant use of imidazole antifungals, oral contraceptives, or phenytoin. In summary, intravenous busulfan has highly predictable, linear pharmacokinetics from 32 mg/m2 (approximately 0.8 mg/kg) to 130 mg/m2 (approximately 3.2 mg/kg). Further, once-daily intravenous busulfan dosing is convenient, favoring its more widespread application. 相似文献
994.
Physico-chemical-mechanical and in vitro biological properties of calcium phosphate cements with doped amorphous calcium phosphates 总被引:1,自引:0,他引:1
Julien M Khairoun I LeGeros RZ Delplace S Pilet P Weiss P Daculsi G Bouler JM Guicheux J 《Biomaterials》2007,28(6):956-965
Calcium phosphate cements (CPCs) are successfully used as bone substitutes in dentistry and orthopaedic applications. This study investigated the physico-chemical-mechanical properties of and in vitro biological properties (cell response) of CPCs prepared with amorphous calcium carbonate phosphate (ACCP) doped with magnesium (ACCP-Mg), zinc (ACCp-Zn) or fluoride (ACCP-F) ions. The experimental CPC consisted of alpha-TCP, doped ACCP, and MPCM powders as matrix and biphasic calcium phosphate (BCP) granules. X-ray diffraction analysis showed that the matrix converted to apatite with poor crystallinity (reflecting small crystal size) after setting for 24 h, while BCP remained apparently unchanged. Cements with ACCP-F (F-CPC) had shorter setting times and greater compressive strength compared to cements with ACCP-Mg (Mg-CPC) or ACCP-Zn (Zn-CPC). Scanning electron microscopy (SEM) showed that crystals set on Mg-CPC and Zn-CPC were smaller compared to those on F-CPC. The total porosity of Mg-CPC was greater compared to Zn-CPC or F-CPC. Osteoblast-like cells, MC3T3-E1, remained viable and maintained their ability to express alkaline phosphatase in contact with the CPCs with doped ACCPs. 相似文献
995.
Weizhen Liu Jingtao Zhang Pierre Weiss Franck Tancret Jean-Michel Bouler 《Acta biomaterialia》2013,9(3):5740-5750
The influence of cellulose ether additives (CEAs) on the performance of final calcium phosphate cement (CPC) products is thoroughly investigated. Four CEAs were added into the liquid phase of apatitic CPCs based on the hydrolysis of α-tricalcium phosphate, to investigate the influence of both molecular weight and degree of substitution on the CPCs’ properties, including handling (e.g. injectability, cohesion, washout resistance and setting time), microstructure (e.g. porosity and micromorphology) and mechanical properties (e.g. fracture toughness and compressive strength). The results showed that even a small amount of CEAs modified most of these CPCs’ features, depending on the structural parameters of the CEAs. The CEAs dramatically improved the injectability, cohesion and washout resistance of the pastes, prolonged the final setting time and increased the porosity of CPCs. Moreover, the CEAs had an evident toughening effect on CPCs, and this effect become more significant with increasing molecular weight and mass fraction of CEAs, inducing a significant tolerance to damage. Overall, the molecular weight of CEAs played a major role compared to their degree of substitution in CPCs’ performances. 相似文献
996.
997.
Terry Laurent Te-Din Huang Pierre Bogaerts Youri Glupczynski 《Journal of clinical microbiology》2013,51(6):1951-1954
A novel commercial chromogenic technique, the βLACTA test (Bio-Rad, Marnes-la-Coquette, France), was evaluated to detect nonsusceptibility to ceftazidime in Pseudomonas aeruginosa isolates. Easily implemented in the routine microbiology laboratory, this rapid test was sensitive (95%) and specific (87%) and presented negative and positive predictive values of 99% and 100%, respectively. 相似文献
998.
Kunie Ando Pierre Dourlen Anne-Véronique Sambo Alexis Bretteville Karim Bélarbi Valérie Vingtdeux Sabiha Eddarkaoui Hervé Drobecq Antoine Ghestem Séverine Bégard Emmanuelle Demey-Thomas Patricia Melnyk Caroline Smet Guy Lippens Claude-Alain Maurage Marie-Laure Caillet-Boudin Yann Verdier Joelle Vinh Isabelle Landrieu Marie-Christine Galas David Blum Malika Hamdane Nicolas Sergeant Luc Buée 《Neurobiology of aging》2013
A prerequisite to dephosphorylation at Ser–Pro or Thr–Pro motifs is the isomerization of the imidic peptide bond preceding the proline. The peptidyl-prolyl cis/trans isomerase named Pin1 catalyzes this mechanism. Through isomerization, Pin1 regulates the function of a growing number of targets including the microtubule-associated tau protein and is supposed to be deregulated Alzheimer's disease (AD). Using proteomics, we showed that Pin1 is posttranslationally modified on more than 5 residues, comprising phosphorylation, N-acetylation, and oxidation. Although Pin1 expression remained constant, Pin1 posttranslational two-dimensional pattern was modified by tau overexpression in a tau-inducible neuroblastoma cell line, in our THY-Tau22 mouse model of tauopathy as well as in AD. Interestingly, in all of these systems, Pin1 modifications were very similar. In AD brain tissue when compared with control, Pin1 is hyperphosphorylated at serine 16 and found in the most insoluble hyperphosphorylated tau fraction of AD brain tissue. Furthermore, in all tau pathology conditions, acetylation of Pin1 may also contribute to the differences observed. In conclusion, Pin1 displays several posttranslational modifications, which are specific in tauopathies and may be useful as biomarker. 相似文献
999.
Matthias Vandesquille Mathieu Baudonnat Laurence Decorte Caroline Louis Pierre Lestage Daniel Béracochéa 《Neurobiology of aging》2013
The present study investigates in aged mice the working memory (WM) enhancing potential of the selective α4β2* nicotinic receptor agonist S 38232 as compared with the cholinesterase inhibitor donepezil, and their effect on cAMP response element binding protein (CREB) phosphorylation (pCREB) as a marker of neuronal activity. We first showed that aged mice exhibit a WM deficit and an increase of pCREB in the prelimbic cortex (PL) as compared with young mice, whereas no modification appears in the CA1. Further, we showed that systemic administration of S 38232 restored WM in aged mice and alleviated PL CREB overphosphorylation. Donepezil alleviated age-related memory deficits, however, by increasing pCREB in the CA1, while pCREB in PL remained unaffected. Finally, whereas neuronal inhibition by lidocaine infusion in the PL appeared deleterious in young mice, the infusion of Rp-cAMPS (a compound known to inhibit CREB phosphorylation) or S 38232 rescued WM in aged animals. Thus, by targeting the α4β2*-nicotinic receptor of the PL, S 38232 alleviates PL CREB overphosphorylation and restores WM in aged mice, which opens new pharmacologic perspectives of therapeutic strategy. 相似文献
1000.
Mahesh Casiraghi Ulysse Fortier‐Gauthier Paola Sessa Roberto Dell'Acqua Pierre Jolicœur 《Psychophysiology》2013,50(4):351-364
Early event‐related potential (ERP) hemispheric asymmetries recorded at occipitoparietal sites are usually observed following the sudden onset of a lateral peripheral stimulus. This is usually reflected in an onset‐locked larger N1 over the posterior contralateral hemisphere relative to the ipsilateral hemisphere, an early ERP asymmetry labeled N1pc. When the peripheral sudden onset is followed by a central stimulus, or by a bilaterally balanced visual array of stimuli, these events evoke a reversed N1pc, that is, a larger N1 over the hemisphere ipsilateral to the peripheral sudden onset. This N1pc reversal has been taken as evidence for a remapping of the visual space from an absolute, retinally based frame of reference to a relative, attentionally based frame of reference that codes the spatial positions of objects relative to the peripheral sudden onset, rather than relative to the fovea. Here, we pit the reference frame‐remapping account against an alternative account based on reduced neural reactivity following the peripheral sudden onset. In three experiments, we varied the spatial location of an object relative to a preceding sudden onset, and tested the opposite predictions generated by the frame‐remapping and the reduced neural reactivity accounts. Taken together, the results from the present experiments were consistent with the reduced neural reactivity account and inconsistent with the frame‐remapping account. 相似文献