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RHCE*01 48G>C, 366del allele with silencedRHCE*ce expression

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Insights into anti‐D formation in carriers of RhD variants through studies of 3D intraprotein interactions

International audienceBackground: Many RhD variants associated with anti-D formation (partial D) in carriers exposed to the conventional D antigen carry mutations affecting extracellular loop residues. Surprisingly, some carry mutations affecting transmembrane or intracellular domains, positions not thought likely to have a major impact on D epitopes.Study design and methods: A wild-type Rh trimer (RhD1 RhAG2 ) was modeled by comparative modeling with the human RhCG structure. Taking trimer conformation, residue accessibility, and position relative to the lipid bilayer into account, we redefine the domains of the RhD protein. We generated models for RhD variants carrying one or two amino acid substitutions associated with anti-D formation in published articles (25 variants) or abstracts (12 variants) and for RHD*weak D type 38. We determined the extracellular substitutions and compared the interactions of the variants with those of the standard RhD.Results: The findings of the three-dimensional (3D) analysis were correlated with anti-D formation for 76% of RhD variants: 15 substitutions associated with anti-D formation concerned extracellular residues, and structural differences in intraprotein interactions relative to standard RhD were observed in the others. We discuss the mechanisms by which D epitopes may be modified in variants in which the extracellular residues are identical to those of standard RhD and provide arguments for the benignity of p.T379M (RHD*DAU0) and p.G278D (RHD*weak D type 38) in transfusion medicine.Conclusion: The study of RhD intraprotein interactions and the precise redefinition of residue accessibility provide insight into the mechanisms through which RhD point mutations may lead to anti-D formation in carriers

Autonomous and controlled reasons underlying self-approach and self-avoidance goals and educational outcomes

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RHCE*cE734C allele encodes an altered c antigen and a suppressed E antigen not detected with standard reagents.

International audienceBACKGROUND: The RH blood group system has many RHCE variant alleles that have arisen through gene conversion or nucleotide changes. Two probands, with red blood cells (RBCs) that were D+C+E-c+(w) e+ were sent to our laboratories to resolve the weak c expression. STUDY DESIGN AND METHODS: Hemagglutination tests were performed by automated and manual procedures. Genomic DNA analysis was performed by sequencing of Exons 1 to 10 of RHCE and RHD. RESULTS: The probands' RBCs did not react with standard monoclonal anti-E reagents from Bio-Rad, Diagast, DiaMed, Immucor, Ortho, and Quotient. The RBCs reacted variably with anti-c reagents from Diagast, DiaMed, Immucor, or Ortho and did not react with the Quotient anti-c reagent. Surprisingly, sequencing results of RHCE showed the presence of C/G at Position 676 (E/e polymorphism) and the association of the E polymorphism with a 734T>C transition in Exon 5 of the RHCE, encoding a Leu245Pro amino acid substitution in the mature RhcE polypeptide. Replacement of leucine 245 by proline in the eighth transmembrane domain of the RhcE protein may have a steric effect on the protein such that most anti-E reagents do not bind and the interaction between anti-c and c antigen is also affected. CONCLUSION: We report a novel RHCE*cE allele, RHCE*cE734C, which was assigned the provisional ISBT allele name RHCE*cE.14 or RHCE*03.14. It was found in two probands whose RBCs had weakened c expression and typed E- with conventional anti-E reagents. These data, once again, highlight the fact that the genotype does not always reflect the phenotype

Mise en place d’une consultation infirmière de suivi post-allogreffe de cellules souches hématopoïétiques : recommandations de la Société francophone de greffe de moelle et de thérapie cellulaire (SFGM-TC)

Le nombre de patients allogreffés suivis en consultation post-greffe ne cesse d’augmenter. Le médecin n’est plus en capacité d’assurer seul ce suivi. Certains centres ont déjà mis en place une consultation infirmière sous la responsabilité d’un médecin. Un état des lieux des centres SFGM-TC a été effectué par le biais d’un questionnaire qui a confirmé la nécessité de cette consultation afin d’améliorer l’organisation des soins et la qualité de la prise en charge des patients. Au cours de cet atelier, nous avons défini des pré-requis pour la création d’une consultation infirmière jusqu’à j100 post-greffe, sous la responsabilité d’un médecin greffeur. Afin d’accompagner les centres dans cette dynamique, nous proposons des outils pratiques de support à la consultation. La politique de santé actuelle est en faveur d’une plus grande autonomie de l’infirmier(ière) expert(e). La mise en place du statut d’infirmier (ière) de pratiques avancées est une première étape et permet d’envisager cette évolution professionnelle.[A specialist nurse consultation for post-transplant follow-up of patients undergoing allogeneic hematopoietic cell transplantation: Recommendations of the Francophone Society of Marrow Transplantation and Cellular Therapy (SFGM-TC)]. The number of hematopoietic stem cell transplantation is in constant rise. This increase has put in spotlight the lack of physician availability. Some healthcare centers have already organised a nurse's consultation under the supervision of an expert physician. We conducted a survey among nurses and physicians from the French Society of Bone Marrow Transplantation and Cell Therapy (SFGM-TC) centers who confirmed the need to create a special transplantation-skilled population of nurses. During this ninth annual workshop of the SFGM-TC, we have defined the required conditions for a transplant nurse consultation until day 100 post-transplant with the responsibility of the transplant expert physician. To help the centers in this dynamic, we provided practical tools to support this consultation. The current heath policy is in favor of an increased autonomy of the expert nurse. The implementation of the status of nurse in advanced practice is the first step in this professional development

La gouvernance à l'épreuve des enjeux environnementaux et des exigences démocratiques

Ce hors-série de VertigO - la revue électronique en sciences de l'environnement, intitulé La gouvernance à l’épreuve des enjeux environnementaux et des exigences démocratiques, fait suite à un colloque organisé par la revue les 14 et 15 mai 2009. Ce colloque a rassemblé plus d’une cinquantaine de chercheurs-es et de professionnels-les s’intéressant aux questions de gouvernance environnementale à différentes échelles (locale, régionale, nationale, internationale et mondiale). Les nombreux textes publiés dans le cadre de ce hors-série mettent en perspective la multidisciplinarité et la pluralité des regards dans ce domaine de recherche et d'intervention