Hereditary inclusion body myopathy: novel GNE mutations in non-middle eastern patients

Autosomal recessive Hereditary Inclusion Body Myopathy (HIBM) is a progressive adult onset skeletal muscle wasting disorder characterized by limb weakness with sparing of the quadriceps. This disorder has been described predominantly in Middle-Eastern groups and in Japanese. HIBM is associated with mutations in the gene, GNE which encodes UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE). GNE is the rate-limiting enzyme of N-acetylneuraminic acid (Neu5Ac; sialic acid) biosynthesis and hyposialylation has been associated with HIBM. Currently, there is no treatment or cure for HIBM. Deleterious mutations were identified in the GNE gene in affected individuals in order to characterize the gene more thoroughly. The research had a second component, which is a first step toward gene therapy for HIBM. An expression construct was developed for transfection of cells lacking GNE. The GNE coding region of sixty-four symptomatic patients was sequenced. Twenty-eight patients were found to bear GNE mutations. Ten novel variations were identified amongst nine non-Middle Eastern patients, including four nonsense (p.R8X, p.W204X, p.Q436X, p.S615X), five missense (p.E2G, p.R71 W, p.I142T, p.I298T, p.L556S), and one synonymous variation (p. Y591 Y) spanning both the epimerase and X kinase domains of GNE. These mutations observed, with the exception of Y591 Y, are thought to lead to decreased production of sialic acid. In contrast, the previously known mutation, p. R266Q has been correlated with the disorder, sialuria. In the GNE construct expression assay, R266Q or wild-type was cloned in CHO cells. Transfection of the R266Q construct showed elevated production of sialic acid at 9.53 nmoles compared to the wild-type at 5.67 nmoles. Replenishing sialic acid through gene transfection may be potentially beneficial as a means to gene therapy in patients with HIBM.California State University, Northridge. Department of Biology.Includes bibliographical references (leaves 48-52

The direct and interactive effects of store-level promotions on impulse purchase: Moderating impact of category familiarity and normative influences

Marketing literature conceptually and empirically establishes the direct effects of different variables on impulse purchase. However, the simultaneous interactions between variables influencing impulse purchase are yet to be studied. This paper measures the direct effects of store-level promotions, brand equity, and price consciousness and also examines the interactive effects of store-level promotions and the moderating influence of category familiarity and normative influences. The results demonstrate the importance of simultaneous examination of interplay between different consumer and store-level variables. Collectively, the results provide substantial segmentation opportunities for manufacturers of branded goods and retailers. © 2013 John Wiley & Sons, Ltd

How service design cues help in service failures

Terres, M. D. S., Herter, M. M., Pinto, D. C., & Mazzon, J. A. (2020). The power of sophistication: How service design cues help in service failures. Journal of Consumer Behaviour, 19(3), 277-290. https://doi.org/10.1002/cb.1816By analyzing three experimental studies, this research tests how and when sophisticated service environment designs (compared to modest service designs) can minimize consumers' negative emotions and increase repurchase intentions after a failure. Drawing on part-list cueing literature, this research proposes that when a service failure occurs in a sophisticated (vs. modest) environment, consumers will rely on the sophisticated style of design as cues for service quality. We argue that sophisticated (vs. modest) service designs work as strong cues for quality that restrict the retrieval of negative information by consumers and can minimize the negative impacts of service failure, reducing consumers' negative emotions and increasing repurchase intentions. We further advance our theorizing by showing how choice failure consequences (i.e., the risk or consequence related to the service choice) moderate the effects via associative pathways of retrieval. The findings contribute to theory and practice by revealing how service designs can serve as cues to mitigate adverse consequences of service failure.authorsversionpublishe

Relationships between parental involvement, health knowledge, attitudes, and practices and biopsychosocial well-being of children in metropolitan cities, Peninsular Malaysia

The main purpose of this study was to determine the relationships between parental involvement, children’s health knowledge, attitudes, and practices (KAP) and children’s biopsychosocial well-being. In addition, the study assessed the mediating effect of health KAP on the relationships between parental involvement and biopsychosocial well-being among children. A total of 450 students aged between 10 and 12 years old from 15 schools in metropolitan cities in Peninsular Malaysia were selected as respondents using Probability Proportionate-to-Size (PPS) sampling technique. Self-administered questionnaire with standardized instruments was used for data collection. Parental involvement was measured with Perception of Parents Scale (POPS) (Grolnick et al., 1991); health knowledge, attitudes, and practices was measured with Nutrition Knowledge Questionnaire (Volpe & Huang, 2004), Activity Knowledge Scale (AKQ) (Melnyk & Small, 2003a), Healthy Living Attitudes Scale (Melnyk & Small, 2003b) and Healthy Lifestyle Behaviour Scale (Melnyk & Small, 2003c) respectively; while biopsychosocial well-being was measured with The PedsQL 4.0 (Pediatric Quality of Life Inventory) Genetic Core Scales (Varni et al., 2001). Results from the hierarchical regression analysis showed that older children who experienced greater maternal and paternal involvement tend to report greater overall biopsychosocial well-being. Further analyses indicated that children’s health knowledge, attitudes, and practices have both partial and full mediating effect on the relationship between parental involvement and biopsychosocial well-being. Specifically, the inclusion of activity knowledge, nutrition knowledge and healthy living attitudes in the mediation model resulted in the decreased of direct influence of maternal involvement on biopsychosocial well-being among children. Findings from the study implied that parental involvement promote better biopsychosocial well-being among children. Besides that, the test of the mediating models showed the significant mediating effect of children’s activity knowledge and healthy living attitudes in the relationships between parental involvement and overall and specific biopsychosocial well-being, specifically in the domain of social functioning. Thus, it can be concluded that positive involvement from parents may improve their children’s health knowledge and promote healthy living attitudes, which eventually contribute to better biopsychosocial well-being. Findings from the current study may have practical implications for individuals, parents, schools, practitioners and governmental agencies who are directly involved in children welfare and programs development. In specific, programmes that focus directly on developing and improving children’s health knowledge, attitudes, and practices, together with the involvement of supportive parents, will enhance children’s biopsychosocial well-being and may eventually lead to successful transition to adulthood

The Use of Web 2.0 Technologies in Marketing Classes: Key Drivers of Student Acceptance

With the proliferation in Web 2.0 technologies, many marketing educators are experimenting with new teaching and learning tools (e.g. Facebook, Twitter, YouTube and Second Life). The benefits of such technologies are often touted by scholars, and indeed, there is a good deal of evidence to support such a view. However, increasingly, educators are highlighting some of the limitations of technology in the learning environment. To draw parallels with other new product research in marketing, the adoption of new learning technologies is often not so widespread. The literature exhibits inconsistency about the willingness of students to adopt new technology in a learning environment, but no systematic research into the factors that affect technology acceptance yet exists. This research fills a gap in the literature by applying an augmented Technology Acceptance Model (TAM) to understand students' future intentions to adopt Twitter, a Web 2.0 technology shown to offer students a variety of benefits. By using partial least squares, the research shows that the main proximal driver of student adoption of Twitter is a utilitarian attitude. Students need to be convinced about ‘what's in it for me’, rather than persuaded about the technology's hedonic benefits. Other affective variables such as an individual's affinity with computers and risk tolerance were also found to be important drivers of perceived ease of use and perceived usefulness, the TAM's key antecedents

Development and Validation of the Impulse Buying Tendency Scale

Previous research suggests that individuals vary in their proclivity to purchase products on impulse. This paper presents the results of four studies (Study 1, n = 212; Study 2, n = 152; Study 3, n = 124; and Study 4, n = 550) designed to develop and validate the Impulse Buying Tendency Scale. Data from the first three studies indicate that the scale is unidimensional and internally consistent. The third study provides evidence supporting convergent validity and discriminant validity and the fourth of predictive validity. </jats:p

Nutritional status of post-acute stroke patients during rehabilitation phase in hospital

Malnutrition is highly prevalent among stroke patients during post-acute rehabilitation phase and may give a negative effect on rehabilitation and impair recovery. However, to date, there is no reported study in Malaysia investigating the nutritional status of stroke patients during rehabilitation phase. Thus, this paper aims to report the preliminary results of nutritional assessment for a randomized controlled trial at baseline. All participating patients were assessed for anthropometric measurements, nutritional status using validated Mini Nutrition Assessment (MNA), 24 h diet recall, and handgrip strength. Demographic data, biochemical profiles and functional outcomes (Modified Barthel Index Score, Motor Assessment Scale) were obtained from patients’ medical record. From a total of 45 post-acute stroke patients at baseline, 24.4% of them were malnourished during admission to rehabilitation ward and 66.7% of the patients were at risk of malnutrition. Mean dietary intake and protein intake of the patients were 1489 ± 297 kcal/day and 66.1 ± 17.2 g/day, respectively. Mean handgrip strength for the patients was 17.9 ± 8.1 kg. Weight, body mass index, serum albumin, handgrip strength, Modified Barthel Index and Motor Assessment Scale score were positively correlated with MNA score (p<0.05), but no correlation was found for the dietary intake (r=0.163, p=0.285) and protein intake (r=0.288, p=0.055). This preliminary result showed that stroke patients are particularly at risk of malnutrition or malnourished during the rehabilitation period. Therefore, early identification of malnutrition for stroke patients is important for a successful rehabilitation program