Le Touquet – Paris-Plage, France
Le Touquet – Paris-Plage, France

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Boer K.,University of Amsterdam | Encha-Razavi F.,Groupe Hospitalier Necker Enfants Malades | Sinico M.,Service danatomie pathologique | Aronica E.,University of Amsterdam | Aronica E.,Epilepsy Institute in The Netherlands Foundation Stichting Epilepsie Instellingen Nederland
Brain Research | Year: 2010

Neuronal and glial cells in human cerebral cortex are enriched in group I metabotropic glutamate receptors (mGluRs). Developmental regulation of mGluRs has been shown in rodent brain and recent studies suggest an involvement of mGluR-mediated glutamate signaling in the proliferation and survival of neural progenitor cells. In the present study, we have investigated the expression and cell-specific distribution of group I mGluRs (mGluR1α and mGluR5) during prenatal human cortical development. mGluR5 was expressed in developing human cortex from the earliest stages tested (9 gestational weeks, GW), with strong expression in the ventricular/subventricular zones. mGluR1α immunoreactivity (IR) was observed in the cortical plate at 13 GW and persisted throughout the prenatal development. Both receptors were expressed in pyramidal neurons in the first postnatal year. Group I mGluRs were also expressed by reelin-positive Cajal-Retzius cells present in the marginal zone/layer I of the developing cortex. mGluR5 IR in these cells was observed in the earliest developmental stages and persisted during the early postnatal period. In contrast, mGluR1α IR was detected in Cajal-Retzius cells during the late phase of prenatal development. These findings show a differential expression pattern of group I mGluR subtypes, suggesting a role for both receptors in the early stages of corticogenesis with, however, a different contribution to human cortical developmental events. © 2010 Elsevier B.V. All rights reserved.

Transposition of the great arteries (TGA) is a common congenital heart malformation, involving inversion of the two great vessels (aorta and pulmonary artery). Without surgical treatment, TGA is not compatible with life. The prognosis of this malformation has been dramatically changed by the development of neonatal cardiac surgery. "Anatomic "repair was introduced in the J980s, with the goal of providing near-normal cardiac anatomy. It is carried out in neonates with isolated TGA (so-calledsimple TGA), as well as in those with associated anomalies (ventricular septal defect, aortic coarctation). Since January 1987, 1020 neonates have undergone anatomic repair of TGA in the pediatric cardiac surgery department of Groupe Hospitalier Laënnec-Necker- Enfants Malades in Paris. The overall mortality rate was 4.8% (49 patients), and all deaths occurred within thefirst postoperative year Among the 966 survivors who could be monitored (mean follow-up 6.2 years), 52 children (5.4%) underwent reoperation, with no additional mortality. Nearly all the survivors have normal cardiac function and quality of life. Despite significant mortality ( albeit currently low ) and a low risk of reoperation, the mid-term results of anatomic repair of TGA are excellent and represent a surgical "cure "in most cases. Very-long-term outcome remains to be determined.

Mashiah J.,Groupe Hospitalier Necker Enfants Malades | Hadj-Rabia S.,Groupe Hospitalier Necker Enfants Malades | Hadj-Rabia S.,University of Paris Descartes | Dompmartin A.,Center Hospitalier Of Caen | And 9 more authors.
Journal of the American Academy of Dermatology | Year: 2014

Background Infantile myofibromatosis (IM) is a rare disorder of fibroblastic/myofibroblastic proliferation in children. Objectives We sought to document common and unusual characteristics of patients with IM. Methods This was a retrospective study of 28 children diagnosed with histopathologically confirmed IM between 1992 and 2012. Epidemiologic, clinical, and treatment data were reviewed. Results IM was more frequent in boys (60.8%). Skin lesions were congenital in 64.3% of cases. The solitary form accounted for 50% of cases. Most nodules were painless, arising in cutaneous or subcutaneous tissue. The multicentric form accounted for 39% of cases; the skin, subcutaneous tissue, or muscle was involved in 97.8% of cases, and the bones in 50% of cases. The generalized form had a mortality rate of 33% (one-third of cases). Multicentric and generalized forms regressed spontaneously; severe local complications were observed, and late recurrent nodules developed in a few cases. Limitations The retrospective review and the ascertainment of patients (from the departments of obstetrics and pediatrics) may have introduced bias in the analysis of severity of the different forms of IM. Conclusion The diagnosis of IM must be confirmed histopathologically because the clinical presentation can be misleading. The prognosis is usually good, although local morbidity can occur. The generalized and multicentric forms merit long-term follow-up. © 2014 by the American Academy of Dermatology, Inc.

This article outlines the process for collecting cell therapy products in hematology, their assessment procedures, as well as the means for their conservation and the conditions of administration to patients. It distinguishes the processes applied to autologous cell therapy products from those applied to allogeneic products. All of these procedures are subject to a rigorous regulation.

Lefrere F.,Groupe Hospitalier Necker Enfants Malades
Hematologie | Year: 2012

Therapeutic plasma exchanges are a form of extracorporeal therapy that use different techniques to separate blood into different components out of which the part containing a pathogenic agent is eliminated; with or without the addition of a replacement fluid. The current indications are broad for various hematologic, nephrologic or neurologic diseases, organ transplantations or vascularitis. In this review, we discuss both the rationale and evidence levels for the common indications in such pathologies treated with plasma exchange, as well as their main different practises and encountered risks.

The study compares the performances of three analytical methods devoted to Analytical Quality Control (AQC) of therapeutic solutions formed into care environment, we are talking about Therapeutics ObjectsTN (TOsTN). We explored the pharmacological model of two widely used anthracyclines i.e. adriamycin and epirubicin. We compared the performance of the HPLC versus two vibrational spectroscopic techniques: a tandem UV/Vis-FTIR on one hand and Raman Spectroscopy (RS) on the other. The three methods give good results for the key criteria of repeatability, of reproducibility and, of accuracy. A Spearman and a Kendall correlation test confirms the noninferiority of the vibrational techniques as an alternative to the reference method (HPLC). The selection of bands for characterization and quantification by RS is the results of a gradual process adjustment, at the intercept of matrix effects. From the perspective of a AQC associated to release of TOs, RS displays various advantages: (a) to decide quickly (∼2min), simultaneously and without intrusion or withdrawal on both the nature of a packaging than on a solvant and this, regardless of the compound of interest; it is the founder asset of the method, (b) to explore qualitatively and quantitatively any kinds of TOs, (c) operator safety is guaranteed during production and in the laboratory, (d) the suppression of analytical releases or waste contribute to protects the environment, (e) the suppression of consumables, (f) a negligible costs of maintenance, (g) a small budget of technicians training. These results already show that the SR technology is potentially a strong contributor to the safety of the medication cycle and fight against the iatrogenic effects of drugs. © 2011 Elsevier Masson SAS.

In European Country, Canada, Australia and Brazil immunization program with conjugate meningococcal C, including universal vaccination of infants or toddlers, with a catch-up program up to 19y in several areas, have been successful in reducing disease incidence through direct and indirect protection. In USA, quadrivalent conjugate vaccines targeting serogroups ACYW135 are used in programs of adolescent immunization at 10 and 15 years because serotype Y is frequent. A mass immunization campaign against serogroupe A disease with a conjugate vaccine is beginning in African belt of meningitis.Polysaccharide vaccines A, C or ACYW135 are used in travelers but quadrivalent conjugate vaccine, with larger targets, gives higher titers after booster and must be preferred.Some questions are pending: immunize before or after one year of age, a booster dose in adolescence and the routine use of quadrivalent conjugate vaccine in Europe if the incidence of serotype Y is growing. © 2012 Elsevier Masson SAS.

Lefrere F.,Groupe Hospitalier Necker Enfants Malades
Medecine Therapeutique | Year: 2012

Therapeutic plasma exchanges are a form of extracorporeal therapy that use different techniques to separate blood into different components out of which the part containing a pathogenic agent is eliminated; with or without the addition of a replacement fluid. The current indications are broad for various hematologic, nephrologic or neurologic diseases, organ transplantations or vascularitis. In this review, we discuss both the rationale and evidence levels for the common indications in such pathologies treated with plasma exchange, as well as their main different practises and encountered risks.

Pilmis B.,Groupe Hospitalier Necker Enfants Malades | Coignard-Biehler H.,Groupe Hospitalier Necker Enfants Malades | Jullien V.,Groupe Hospitalier Cochin Saint Vincent Of Paul | Hermine O.,Groupe Hospitalier Necker Enfants Malades | And 3 more authors.
Antimicrobial Agents and Chemotherapy | Year: 2013

Iatrogenic Cushing's syndrome is an undesirable outcome of glucocorticoids treatment. It can be increased by pharmacologic interactions. Glucocorticoid therapy, given in association with ritonavir, and some azole treatments are causes of iatrogenic Cushing's syndrome. We present a patient with common-variable immunodeficiency who received 7 years of itraconazole therapy for bronchial colonization with Aspergillus in combination with inhaled fluticasone without any Cushingoid symptoms. After a switch to posaconazole, the patient developed Cushingoid symptoms. Copyright © 2013, American Society for Microbiology. All Rights Reserved.

Kott E.,University Pierre and Marie Curie | Duquesnoy P.,University Pierre and Marie Curie | Copin B.,University Pierre and Marie Curie | Legendre M.,University Pierre and Marie Curie | And 15 more authors.
American Journal of Human Genetics | Year: 2012

Primary ciliary dyskinesia (PCD) is a group of autosomal-recessive disorders resulting from cilia and sperm-flagella defects, which lead to respiratory infections and male infertility. Most implicated genes encode structural proteins that participate in the composition of axonemal components, such as dynein arms (DAs), that are essential for ciliary and flagellar movements; they explain the pathology in fewer than half of the affected individuals. We undertook this study to further understand the pathogenesis of PCD due to the absence of both DAs. We identified, via homozygosity mapping, an early frameshift in LRRC6, a gene that encodes a leucine-rich-repeat (LRR)-containing protein. Subsequent analyses of this gene mainly expressed in testis and respiratory cells identified biallelic mutations in several independent individuals. The situs inversus observed in two of them supports a key role for LRRC6 in embryonic nodal cilia. Study of native LRRC6 in airway epithelial cells revealed that it localizes to the cytoplasm and within cilia, whereas it is absent from cells with loss-of-function mutations, in which DA protein markers are also missing. These results are consistent with the transmission-electron-microscopy data showing the absence of both DAs in cilia or flagella from individuals with LRRC6 mutations. In spite of structural and functional similarities between LRRC6 and DNAAF1, another LRR-containing protein involved in the same PCD phenotype, the two proteins are not redundant. The evolutionarily conserved LRRC6, therefore, emerges as an additional player in DA assembly, a process that is essential for proper axoneme building and that appears to be much more complex than was previously thought. © 2012 The American Society of Human Genetics.

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