LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood.

International audienceAutosomal recessive LPIN1 mutations have been recently described as a novel cause of rhabdomyolysis in a few families. The purpose of the study was to evaluate the prevalence of LPIN1 mutations in patients exhibiting severe episodes of rhabdomyolysis in infancy. After exclusion of primary fatty acid oxidation disorders, LPIN1 coding sequence was determined in genomic DNA and cDNA. Among the 29 patients studied, 17 (59%) carried recessive nonsense or frameshift mutations, or a large scale intragenic deletion. In these 17 patients, episodes of rhabdomyolysis occurred at a mean age of 21 months. Secondary defect of mitochondrial fatty oxidation or respiratory chain was found in skeletal muscle of two patients. The intragenic deletion, c.2295-866_2410-30del, was identified in 8/17 patients (47%), all Caucasians, and occurred on the background of a common haplotype, suggesting a founder effect. This deleted human LPIN1 form was unable to complement ∆pah1 yeast for growth on glycerol, in contrast to normal LPIN1. Since more than 50% of our series harboured LPIN1 mutations, LPIN1 should be regarded as a major cause of severe myoglobinuria in early childhood. The high frequency of the intragenic LPIN1 deletion should provide a valuable criterion for fast diagnosis, prior to muscle biopsy

Space plasma physics science opportunities for the lunar orbital platform - Gateway

The Lunar Orbital Platform - Gateway (LOP - Gateway, or simply Gateway) is a crewed platform that will be assembled and operated in the vicinity of the Moon by NASA and international partner organizations, including ESA, starting from the mid-2020s. It will offer new opportunities for fundamental and applied scientific research. The Moon is a unique location to study the deep space plasma environment. Moreover, the lunar surface and the surface-bounded exosphere are interacting with this environment, constituting a complex multi-scale interacting system. This paper examines the opportunities provided by externally mounted payloads on the Gateway in the field of space plasma physics, heliophysics and space weather, and also examines the impact of the space environment on an inhabited platform in the vicinity of the Moon. It then presents the conceptual design of a model payload, required to perform these space plasma measurements and observations. It results that the Gateway is very well-suited for space plasma physics research. It allows a series of scientific objectives with a multi-disciplinary dimension to be addressed

Caractérisation de la composition chimique et de la valeur de l'épeautre (Triticum spelta) en alimentation des ruminants

peer reviewe

Customer intentions to invoke service guarantees: does excellence in service recovery, type of guarantee, and cultural orientation matter?

Purpose - Many service providers feel confident about their service quality and thus offer service guarantees to their customers. Yet service failures are inevitable. As guarantees can only be invoked when customers report service failures, firms are given the opportunity to redress the original failure potentially influencing customer outcomes. This research provides the first empirical investigation of whether excellence in service recovery affects customers’ intentions to invoke a service guarantee, thereby discriminating between conditional and unconditional guarantees and testing for the impact of customers’ individualistic versus collectivistic cultural orientation. Design – One-hundred seventy-one respondents from four continents (spanning 23 countries) were recruited to participate in a quasi-experimental study in a hotel setting. A three-way analysis of variance was used to test the hypotheses. Results - All customers are very likely to invoke the service guarantee after an unsatisfactory service recovery. When customers are satisfied with the service recovery, they report lower invoke intentions, except for collectivistic individuals who are still inclined to invoke an unconditional service guarantee after a satisfactory service recovery. This finding supports an in-group/out-group rationale, whereby collectivists tend to behave more opportunistically towards out-groups than individualistic customers. Originality/Value - This study highlights the importance of excellence in service recovery, cultural differences and different types of service guarantees with respect to customers’ intentions to invoke the guarantee. We demonstrate how service guarantees should be designed in conjunction with service recovery strategies. Also, we show that an unconditional service guarantee creates the condition in which collectivists might engage in opportunistic behavior; global service providers concerned about opportunistic customer claiming behavior thus might benefit from using conditional service guarantees

Does being proactive pay off? Webcare strategies and their effect on customer emotions, outcomes and privacy concerns

This research investigates the effects of different types of webcare (i.e. monitoring and intervening in online word-of-mouth) on customer satisfaction, loyalty, word-of-mouth intentions and perceived privacy perceptions, thereby controlling for positive and negative customer emotions. Preliminary results indicate differences among the employed webcare strategies in terms of customer outcomes and evoked emotions. Consequently this research contributes to complaint literature and offers managerial guidance as to which strategy works best in differing situations

Does being proactive pay off? Webcare strategies and their effect on customer emotions, outcomes, and privacy concerns

status: accepte

The Impact of Cultural Values on Customer Coping Responses After Service Failure

status: publishe

The Service Recovery Journey: Conceptualization, Integration, and Directions for Future Research

Service failures represent temporary or permanent interruptions of the customer\u2019s regular service experience. Although the literature identifies an extensive set of organizational alternatives for recovering from service failures, researchers have approached these responses as discrete organizational actions that are loosely connected to the dynamic nature of the recovery experience. In this article, we address this shortcoming by introducing the idea of the service recovery journey (SRJ). We first conceptualize the SRJ as the outcome of a service failure that is composed of three phases: prerecovery, recovery, and postrecovery. We then synthesize the organizational responses to service failures reported in 230 journal articles and integrate them with the novel SRJ perspective. Thereafter, we provide an extensive set of questions for future research that will expand our knowledge about the prerecovery, recovery, and postrecovery phases and address the interaction between the customer\u2019s regular journey and the SRJ. Finally, we outline six considerations for recovery research seeking to affect business practice and discuss the managerial implications of adopting an SRJ perspective

The Service Recovery Journey (SRJ): Conceptualization, Integration and Directions for Future Research

For customers, service failures represent a temporary or permanent interruption of the regular service experience. Although past literature has identified an extensive set of organizational responses to recover from service failures, researchers approached these responses as discrete organizational actions that are loosely connected to the dynamic nature of the customer experience. Here, we address this shortcoming by introducing the idea of the service recovery journey (SRJ). We first conceptualize the SRJ as the outcome of a service failure, composed of a pre-recovery, recovery and post-recovery phase. Then, we integrate the 22 existing organizational responses to service failures reported in 229 journal articles within the novel SRJ perspective. Lastly, we provide an extensive set of future research questions that expand our knowledge about the service recovery journey and we address the interaction between the customers’ regular journey and the SRJ