Université Catholique de Lille

Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. It is caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an accumulation of its substrate, glucosylceramide, in macrophages. In the general population, its incidence is approximately 1/40,000 to 1/60,000 births, rising to 1/800 in Ashkenazi Jews. The main cause of the cytopenia, splenomegaly, hepatomegaly, and bone lesions associated with the disease is considered to be the infiltration of the bone marrow, spleen, and liver by Gaucher cells. Type-1 Gaucher disease, which affects the majority of patients (90% in Europe and USA, but less in other regions), is characterized by effects on the viscera, whereas types 2 and 3 are also associated with neurological impairment, either severe in type 2 or variable in type 3. A diagnosis of GD can be confirmed by demonstrating the deficiency of acid glucocerebrosidase activity in leukocytes. Mutations in the GBA1 gene should be identified as they may be of prognostic value in some cases. Patients with type-1 GD—but also carriers of GBA1 mutation—have been found to be predisposed to developing Parkinson’s disease, and the risk of neoplasia associated with the disease is still subject to discussion. Disease-specific treatment consists of intravenous enzyme replacement therapy (ERT) using one of the currently available molecules (imiglucerase, velaglucerase, or taliglucerase). Orally administered inhibitors of glucosylceramide biosynthesis can also be used (miglustat or eliglustat).

Purpose – Noting that a fundamental tenet of service‐dominant (S‐D) logic is the co‐creation of value‐in‐use, this paper aims to explore the theoretical possibility that the interactions between service systems cannot only co‐create value, but also have adverse consequences leading to actual value co‐destruction.

Dawson, N. M., B. Coolsaet, E. J. Sterling, R. Loveridge, N. D. Gross-Camp, S. Wongbusarakum, K. K. Sangha, L. M. Scherl, H. Phuong Phan, N. Zafra-Calvo, W. G. Lavey, P. Byakagaba, C. J. Idrobo, A. Chenet, N. J. Bennett, S. Mansourian, and F. J. Rosado-May. 2021. The role of Indigenous peoples and local communities in effective and equitable conservation. Ecology and Society 26(3):19. https://doi.org/10.5751/ES-12625-260319

Purpose The purpose of this study is to establish a theoretical basis for evaluating a strategic increase in customers' perceptions of service/product quality – specifically in terms of an increase in relationship quality and customer loyalty in a B2B environment – and to test this theoretical basis empirically. Design/methodology/approach Drawing on the relationship‐marketing literature, the authors empirically test a model of business loyalty in a sample of 234 advertising agencies' clients. Findings Using the Grönroos conceptualisation, a clear pattern of service‐quality dimensions is established and several important findings are reported – including empirical verification of the mediating role of overall relationship satisfaction in the formation of loyalty attributes. The effects of trust and commitment are also verified. Research limitations/implications Studies that model attitudinal as well as behavioural relationship outcomes have strong precedence in the relationship marketing area. Although in this study the “intentions” approach is followed rather than a behavioural one, the measurement of the real behaviour of industrial clients proves to be very difficult from a practical point‐of‐view. Practical implications In this service continuum, managers need to clearly define relationship development strategies, service provision policies and develop homogeneous service provision. Towards this direction, it is essential that firms communicate the service and product quality standards to partners so that differences in service provision can be avoided. Originality/value The study integrates the concepts of service/product quality, relationship satisfaction, trust, and commitment in a business‐loyalty model, demonstrating the benefits of investing in relationships based on trust and commitment.

Background: Geriatric Assessment is an appropriate method for identifying older cancer patients at risk of life-threatening events during therapy. Yet, it is underused in practice, mainly because it is time-and resource-consuming. This study aims to identify the best screening tool to identify older cancer patients requiring geriatric assessment by comparing the performance of two short assessment tools the G8 and the Vulnerable Elders Survey (VES-13).

Consumers’ preferences for domestic over imported products have been investigated in various isolated studies, but never in a single model incorporating several in-group and out-group consumer orientations at the same time. Building on social identity theory, this study develops and tests—in two countries—a conceptual model that assesses the relative influence of consumer ethnocentrism, national identity, and consumer cosmopolitanism on consumers’ product judgments and willingness to buy domestic and foreign products. Furthermore, the study develops an empirically based typology of consumer segments using these sociopsychological traits and subsequently profiles them on consumption-relevant variables. The findings reveal several undiscovered patterns regarding the interplay of consumer ethnocentrism, national identity, and consumer cosmopolitanism as drivers of consumer behavior and offer managerial guidance on their relevance as segmentation variables.

BACKGROUND: Severe gait disturbances and freezing episodes (frequently resistant to optimal dopaminergic treatment) often appear in advanced Parkinson disease (PD). Even several years after initiation, high-frequency subthalamic nucleus deep brain stimulation (STN-DBS) is still very effective for controlling segmental symptoms. However, there are no long-term data on the management of gait disorders and freezing in STN-DBS. OBJECTIVES: To compare the effects of various STN-DBS parameters on freezing of gait and to determine whether such effects are more related to stimulation energy (usual voltages vs high voltages at 130 Hz) or frequency (130 Hz vs approximately half this frequency: 60 Hz). METHODS: We blindly assessed STN-DBS parameters in 13 PD patients reporting severe gait disorders. We compared the effects on gait of two different voltages (the patient's usual voltage [median 3 volts] and a high voltage [median 3.7 volts]) and two different frequencies (60 and 130 Hz, while maintaining the same total energy delivered) vs "off-stimulation" conditions. RESULTS: The number of freezing episodes was significantly lower at the 60-Hz "high voltage/equivalent energy" and higher at the 130-Hz/high voltage than for "off stimulation." The slight improvement in the Unified Parkinson's Disease Rating Scale motor score observed (at 130 Hz) did not achieve statistical significance. CONCLUSIONS: Our results prompt consideration of a new strategy for two-stage subthalamic nucleus deep brain stimulation (STN-DBS) frequency optimization, with stimulation at 130 Hz and the usual voltage during the initial years of STN-DBS and then at 60 Hz at a high voltage in Parkinson disease patients who develop severe gait disorders.

BACKGROUND: Nonophthalmologist physicians do not confidently perform direct ophthalmoscopy. The use of artificial intelligence to detect papilledema and other optic-disk abnormalities from fundus photographs has not been well studied. METHODS: We trained, validated, and externally tested a deep-learning system to classify optic disks as being normal or having papilledema or other abnormalities from 15,846 retrospectively collected ocular fundus photographs that had been obtained with pharmacologic pupillary dilation and various digital cameras in persons from multiple ethnic populations. Of these photographs, 14,341 from 19 sites in 11 countries were used for training and validation, and 1505 photographs from 5 other sites were used for external testing. Performance at classifying the optic-disk appearance was evaluated by calculating the area under the receiver-operating-characteristic curve (AUC), sensitivity, and specificity, as compared with a reference standard of clinical diagnoses by neuro-ophthalmologists. RESULTS: The training and validation data sets from 6779 patients included 14,341 photographs: 9156 of normal disks, 2148 of disks with papilledema, and 3037 of disks with other abnormalities. The percentage classified as being normal ranged across sites from 9.8 to 100%; the percentage classified as having papilledema ranged across sites from zero to 59.5%. In the validation set, the system discriminated disks with papilledema from normal disks and disks with nonpapilledema abnormalities with an AUC of 0.99 (95% confidence interval [CI], 0.98 to 0.99) and normal from abnormal disks with an AUC of 0.99 (95% CI, 0.99 to 0.99). In the external-testing data set of 1505 photographs, the system had an AUC for the detection of papilledema of 0.96 (95% CI, 0.95 to 0.97), a sensitivity of 96.4% (95% CI, 93.9 to 98.3), and a specificity of 84.7% (95% CI, 82.3 to 87.1). CONCLUSIONS: A deep-learning system using fundus photographs with pharmacologically dilated pupils differentiated among optic disks with papilledema, normal disks, and disks with nonpapilledema abnormalities. (Funded by the Singapore National Medical Research Council and the SingHealth Duke-NUS Ophthalmology and Visual Sciences Academic Clinical Program.).

Social innovations are urgently needed as we confront complex social problems. As these social problems feature substantial interdependencies among multiple systems and actors, developing and implementing innovative solutions involve the re-negotiating of settled institutions or the building of new ones. In this introductory article, we introduce a stylized three-cycle model highlighting the institutional nature of social innovation efforts. The model conceptualizes social innovation processes as the product of agentic, relational, and situated dynamics in three interrelated cycles that operate at the micro, meso, and macro levels of analysis. The five papers included in this special issue address one or more of these cycles. We draw on these papers and the model to stimulate and offer guidance to future conversations on social innovations from an institutional theory perspective.

Abstract Despite the increasing attention to corporate social responsibility (CSR) in the management literature, little is known about the mechanisms and boundary conditions explaining employees’ responses to CSR. Drawing on social identity and cue consistency theory, we develop a mediated moderation model that explains how and under which conditions perceived CSR affects employees’ organizational identification. We test the model by carrying out a three‐wave longitudinal study on employees of an international utility company. The findings indicate that perceived CSR interacts with overall justice to predict organizational identification through the successive mediation of perceived external prestige and organizational pride. The study clarifies and advances some of the theoretical foundations surrounding the micro‐level approach of CSR and has key implications for management research and practice.

Purpose Delay is an important issue for service providers. Indeed, previous studies have widely shown the negative effect of waiting time on consumer service satisfaction. However, being satisfied with the service seems to be insufficient for customers to remain loyal. Creating customer loyalty is even more crucial than just satisfying them. The paper aims to investigate how customers weigh up their service satisfaction and waiting time satisfaction in order to determine whether they will remain loyal or not. Design/methodology/approach A survey was conducted in the Belgian health care industry. The final sample includes 946 respondents. Regression analyses were performed and the Baron and Kenny method used to test moderator and mediator impacts of variables. Findings The results confirm that waiting time satisfaction is not only a service satisfaction determinant, but it also moderates the satisfaction‐loyalty relationship. Moreover, determinants of customer waiting time satisfaction include the perceived waiting time, the satisfaction with information provided in case of delays, and the satisfaction with the waiting environment. In addition, it is shown that waiting time satisfaction is a complete mediating variable in the perceived waiting time and service satisfaction link. Originality/value The paper suggests several implications about the waiting time impacts on service satisfaction and customer loyalty. They show the importance of this variable in the service process and explain how to improve it.

Abstract Environmental sustainability is the primary task of environmental entrepreneurship by critically handling increased institutional, customer, and environmental pressures. Green entrepreneurship orientation (GEO) seeks to harmonize their relationships with the external environment to foster the impact of green innovation performance (GIP) on environmental performance (EP). Drawing upon the natural resource‐based view and dynamic capability theory, the study examines the effect of GEO on GIP and EP. Additionally, the moderating effect of managerial environmental concerns (MEC) on this relationship is also inspected. The results revealed that green absorptive capacity (GAC), environmental cooperation (EC), and MEC significantly affect GEO. Furthermore, GEO positively influenced GIP and EP. Indeed, GEO partially mediates GAC, EC, and managerial concern's relationship on green innovation and EP. Additionally, MEC significantly moderates the relationship between GEO and EP. Firms GEO should adequately enhance green practices performance and EP to accommodate their external environment relationships. The study concluded that green innovation development shifts firms from environmental management to sustainable development. Theoretical and practical implications were also presented.

This research aims at analyzing the impact of consumers' perceptions of Corporate Social Responsibility (CSR) activities on their trust toward the company and at highlighting the underlying mechanisms and conditions of this impact. This paper is based on a questionnaire survey administered to a sample of 618 consumers about cosmetics and sportswear. Results show that consumers' perceptions of CSR activities have a positive influence on their trust toward the company, directly and indirectly through the influence on perceived quality of the products offered and consumer satisfaction.

AIMS: While pulmonary embolism (PE) appears to be a major issue in COVID-19, data remain sparse. We aimed to describe the risk factors and baseline characteristics of patients with PE in a cohort of COVID-19 patients. METHODS AND RESULTS: In a retrospective multicentre observational study, we included consecutive patients hospitalized for COVID-19. Patients without computed tomography pulmonary angiography (CTPA)-proven PE diagnosis and those who were directly admitted to an intensive care unit (ICU) were excluded. Among 1240 patients (58.1% men, mean age 64 ± 17 years), 103 (8.3%) patients had PE confirmed by CTPA. The ICU transfer and mechanical ventilation were significantly higher in the PE group (for both P < 0.001). In an univariable analysis, traditional venous thrombo-embolic risk factors were not associated with PE (P > 0.05), while patients under therapeutic dose anticoagulation before hospitalization or prophylactic dose anticoagulation introduced during hospitalization had lower PE occurrence [odds ratio (OR) 0.40, 95% confidence interval (CI) 0.14-0.91, P = 0.04; and OR 0.11, 95% CI 0.06-0.18, P < 0.001, respectively]. In a multivariable analysis, the following variables, also statistically significant in univariable analysis, were associated with PE: male gender (OR 1.03, 95% CI 1.003-1.069, P = 0.04), anticoagulation with a prophylactic dose (OR 0.83, 95% CI 0.79-0.85, P < 0.001) or a therapeutic dose (OR 0.87, 95% CI 0.82-0.92, P < 0.001), C-reactive protein (OR 1.03, 95% CI 1.01-1.04, P = 0.001), and time from symptom onset to hospitalization (OR 1.02, 95% CI 1.006-1.038, P = 0.002). CONCLUSION: PE risk factors in the COVID-19 context do not include traditional thrombo-embolic risk factors but rather independent clinical and biological findings at admission, including a major contribution to inflammation.

The “environment” and “justice” of environmental justice are often defined through Western ways of thinking. Empirical environmental justice research, however, increasingly takes place in the context of the global South. As a result, there is a tendency to transpose Western concepts and frameworks to the global South, running the risk of being ineffective and of producing additional injustices. Drawing on decolonial thought, a Latin American and Caribbean theoretical movement, this paper analyses the problems which arise when Western concepts are used as the main organizing principles of non-Western environmental justice movements. Examples include failing to account for cases involving mutually undermining modes of life, hence presenting deliberate exposure to environmental harm as a fair solution; rendering invisible the fact that “participation” may contribute to the reproduction of environmental injustices, sometimes with the consent of those who are likely to be the first victims of environmental injustices; or reproducing the idea that communities in the global South do not produce knowledge, that their knowledge is inferior, or only useful for empirical observation, while Western science provides for the underlying theoretical framework. We conclude by highlighting some of the principles of a decolonial environmental justice.

BACKGROUND: Empirical social contact patterns are essential to understand the spread of infectious diseases. To date, no such data existed for France. Although infectious diseases are frequently seasonal, the temporal variation of contact patterns has not been documented hitherto. METHODS: COMES-F is the first French large-scale population survey, carried out over 3 different periods (February-March, April, April-May) with some participants common to the first and the last period. Participants described their contacts for 2 consecutive days, and reported separately on professional contacts when typically over 20 per day. RESULTS: 2033 participants reported 38 881 contacts (weighted median [first quartile-third quartile]: 8[5-14] per day), and 54 378 contacts with supplementary professional contacts (9[5-17]). Contrary to age, gender, household size, holidays, weekend and occupation, period of the year had little influence on the number of contacts or the mixing patterns. Contact patterns were highly assortative with age, irrespective of the location of the contact, and gender, with women having 8% more contacts than men. Although most contacts occurred at home and at school, the inclusion of professional contacts modified the structure of the mixing patterns. Holidays and weekends reduced dramatically the number of contacts, and as proxies for school closure, reduced R0 by 33% and 28%, respectively. Thus, school closures could have an important impact on the spread of close contact infections in France. CONCLUSIONS: Despite no clear evidence for temporal variation, trends suggest that more studies are needed. Age and gender were found important determinants of the mixing patterns. Gender differences in mixing patterns might help explain gender differences in the epidemiology of infectious diseases.

This paper provides a comprehensive survey of the literature on production and cost frontiers for public transit operators, and it evaluates the contributions of frontier analysis to the understanding of the performance of the public transport sector. The authors first succinctly contrast best practice (or frontier) and average practice specifications of technology. They also review relevant performance indicators and the methods to measure them. Next, the existing frontier studies measuring urban transit performance are systematically summarized and critically assessed. It is shown that the organization of the market, contract design, the degree and nature of the regulatory regime, and the characteristics of the network being served are all important determinants of inefficiency. However, although the frontier literature has substantially contributed to the knowledge of urban transit technologies and the determinants of performance, it is found that many important issues remain unresolved.

Patients with multiple myeloma are generally older and vary in fitness levels, which may influence the clinical benefit of treatment. Patients from the large, phase 3 FIRST trial in newly diagnosed multiple myeloma (NDMM) were retrospectively investigated to determine outcomes based on frailty using scores for age, Charlson Comorbidity Index (CCI), and Eastern Cooperative Oncology Group performance status (ECOG PS), instead of the EQ-5D quality-of-life questionnaire, as previously reported. ECOG PS (n = 1618) was investigated in frailty groups: frail (49%) and nonfrail (51%). Frail patients experienced worse progression-free and overall survival vs nonfrail patients. Prognostic assessment was improved when combining frailty and International Staging System stage (I/II vs III). Frail patients had a higher risk of developing grade 3/4 treatment-emergent adverse events. Treatment effects observed in the FIRST trial were confirmed per frailty group and per frailty and ISS group. The use of this ECOG PS-containing frailty scale as a predictive measure of clinical outcomes in patients with transplant-ineligible NDMM is supported by data from the FIRST trial. This score, based on age, CCI, and ECOG PS, can be easily replicated and may help design future myeloma studies in frail or nonfrail elderly patients.

Patients with low-risk myelodysplastic syndromes (MDS) that rapidly progress to acute myeloid leukemia (AML) remain a challenge in disease management. Using whole-exome sequencing of an MDS patient, we identified a somatic mutation in the BCOR gene also mutated in AML. Sequencing of BCOR and related BCORL1 genes in a cohort of 354 MDS patients identified 4.2% and 0.8% of mutations respectively. BCOR mutations were associated with RUNX1 (P = .002) and DNMT3A mutations (P = .015). BCOR is also mutated in chronic myelomonocytic leukemia patients (7.4%) and BCORL1 in AML patients with myelodysplasia-related changes (9.1%). Using deep sequencing, we show that BCOR mutations arise after mutations affecting genes involved in splicing machinery or epigenetic regulation. In univariate analysis, BCOR mutations were associated with poor prognosis in MDS (overall survival [OS]: P = .013; cumulative incidence of AML transformation: P = .005). Multivariate analysis including age, International Prognostic Scoring System, transfusion dependency, and mutational status confirmed a significant inferior OS to patients with a BCOR mutation (hazard ratio, 3.3; 95% confidence interval, 1.4-8.1; P = .008). These data suggest that BCOR mutations define the clinical course rather than disease initiation. Despite infrequent mutations, BCOR analyses should be considered in risk stratification.

The 2030 Agenda of the United Nations comprises 17 Sustainable Development Goals (SDGs) and 169 sub-targets which serve as a global reference point for the transition to sustainability. The agenda acknowledges that different issues such as poverty, hunger, health, education, gender equality, environmental degradation, among others, are intertwined and can therefore only be addressed together. Implementing the SDGs as an ‘indivisible whole’ represents the actual litmus test for the success of the 2030 Agenda. The main challenge is accomplishing a more integrated approach to sustainable development that encompasses new governance frameworks for enabling and managing systemic transformations. This thematic issue addresses the question whether and how the SDGs set off processes of societal transformation, for which cooperation between state and non-state actors at all political levels (global, regional, national, sub-national), in different societal spheres (politics, society, and economy), and across various sectors (energy, transportation, food, etc.) are indispensable. In this editorial, we first introduce the 2030 Agenda and the SDGs by providing an overview of the architecture of the agenda and the key challenges of the current implementation phase. In a second step, we present the eleven contributions that make up the thematic issue clustering them around three themes: integration, governance challenges, and implementation.