Background: Late-onset Pompe disease (LOPD) is caused by a deficiency of acid α-glucosidase (GAA), leading to progressive muscle and respiratory decline. Cipaglucosidase alfa (cipa), a recombinant human GAA naturally enriched with bis-mannose-6-phosphate, exhibits improved muscle uptake but is limited by inactivation at near-neutral blood pH. Miglustat (mig), an enzyme stabiliser, binds competitively and reversibly to cipa, enhancing its stability and activity. Methods: In dose-finding studies, Gaa-/- mice were treated with cipa (20 mg/kg) +/- mig (10 mg/kg; equivalent human dose ~260 mg). Clinical study methodologies have been published (Schoser et al. Lancet Neurol 2021:20;1027–37; Schoser et al. J Neurol 2024:271;2810–23). Results: In Gaa-/- mice, cipa+mig improved muscle glycogen reduction more than cipa alone and grip strength to levels approaching wild-type mice. LOPD patients (n=11) treated with cipa alone showed dose-dependent decreases in hexose tetrasaccharide (Hex4) levels by ~15% from baseline, decreasing another ~10% with added mig (260 mg). In a head-to-head study, cipa+mig had a similar safety profile to alglucosidase alfa. Among 151 patients (three trials), mig-related adverse events occurred in 21 (13.9%), none serious. Conclusions: Mig stabilised cipa in circulation, improving cipa exposure, further reducing Hex4 levels and was well tolerated in clinical studies in patients with LOPD. Sponsored by Amicus Therapeutics, Inc.

Sessile serrated lesions (SSL) are recognised precursors to colorectal cancer. Little is known about risk factors for SSL due to their relatively recent clinical recognition as a cancer precursor and routine documentation of cases. Lifestyle and diet-related information were collected using validated questionnaires in a colonoscopy-based case–control study in Australia (257 SSL cases, 239 conventional adenoma (CA) cases, 180 polyp-free controls). A posteriori dietary patterns were derived from self-reported dietary intake in the past 12 months using principal component analysis. Multivariable-adjusted OR and 95 % CI were used to examine associations between lifestyle factors and dietary patterns on risk of SSL and CA v. polyp-free controls and SSL v. CA using logistic regression modelling. Use of anti-inflammatory medications was associated with reduced SSL risk (OR = 0·61; 95 % CI 0·38, 1·00), while current smoking was associated with increased SSL risk (OR = 1·96; 95 % CI 1·09, 3·53). Unlike CA, SSL risk was not increased by hormone replacement therapy use and current alcohol consumption but was increased by taller height. Higher adherence to a dietary pattern featuring processed meats, ready-made convenience foods and high-energy drinks was associated with increased SSL risk (OR = 2·13; 95 % CI 1·13, 4·00; Ptrend = 0·03) and CA (OR = 2·60; 95 % CI 1·32, 5·09; Ptrend = 0·005). Compared with CA, a dietary pattern featuring wholegrains, low-fat dairy products, nuts, seeds and oily fish was associated with reduced SSL risk (OR = 0·60; 95 % CI 0·36, 0·98; Ptrend = 0·04). This study supports a healthy diet as primary prevention for both SSL and CA and reinforces smoking as a risk factor for SSL.

While adapting to future sea-level rise (SLR) and its hazards and impacts is a multidisciplinary challenge, the interaction of scientists across different research fields, and with practitioners, is limited. To stimulate collaboration and develop a common research agenda, a workshop held in June 2024 gathered 22 scientists and policymakers working in the Netherlands. Participants discussed the interacting uncertainties across three different research fields: sea-level projections, hazards and impacts, and adaptation. Here, we present our view on the most important uncertainties within each field and the feasibility of managing and reducing those uncertainties. We find that enhanced collaboration is urgently needed to prioritize uncertainty reductions, manage expectations and increase the relevance of science to adaptation planning. Furthermore, we argue that in the coming decades, significant uncertainties will remain or newly arise in each research field and that rapidly accelerating SLR will remain a possibility. Therefore, we recommend investigating the extent to which early warning systems can help policymakers as a tool to make timely decisions under remaining uncertainties, in both the Netherlands and other coastal areas. Crucially, this will require viewing SLR, its hazards and impacts, and adaptation as a whole.

This scoping review synthesizes existing literature on the application of the capability approach (CA) to address the health and well-being of Indigenous Peoples across the globe. Academic and grey literature searches led to the identification of 20 papers for inclusion in the review. Findings reveal a growing interest in applying the CA to Indigenous health and well-being research, highlighting its potential to guide interventions and policies. The included studies indicate that the CA has been applied to individual capabilities such as facilitating access to services and collective capabilities linked to identity and traditional knowledge preservation. A key finding across the reviewed literature is the importance of incorporating Indigenous values into defining programmes and policies aimed at improving Indigenous Peoples’ well-being. The review underscores the varied application of the CA by researchers aligning with the position of either Sen or Nussbaum, leading to contrasting methodological approaches. Results underscore the CA’s potential as a culturally sensitive framework for participatory and locally embedded development of well-being interventions and policies.

A new observable consequence of the property of invariant item ordering is presented, which holds under Mokken’s double monotonicity model for dichotomous data. The observable consequence is an invariant ordering of the item-total regressions. Kendall’s measure of concordance W and a weighted version of this measure are proposed as measures for this property. Karabatsos and Sheu proposed a Bayesian procedure (Appl. Psychol. Meas. 28:110–125, 2004), which can be used to determine whether the property of an invariant ordering of the item-total regressions should be rejected for a set of items. An example is presented to illustrate the application of the procedures to empirical data.

Correspondence analysis can be described as a technique which decomposes the departure from independence in a two-way contingency table. In this paper a form of correspondence analysis is proposed which decomposes the departure from the quasi-independence model. This form seems to be a good alternative to ordinary correspondence analysis in cases where the use of the latter is either impossible or not recommended, for example, in case of missing data or structural zeros. It is shown that Nora's reconstitution of order zero, a procedure well-known in the French literature, is formally identical to our correspondence analysis of incomplete tables. Therefore, reconstitution of order zero can also be interpreted as providing a decomposition of the residuals from the quasi-independence model. Furthermore, correspondence analysis of incomplete tables can be performed using existing programs for ordinary correspondence analysis.

Randomized response (RR) is a well-known method for measuring sensitive behavior. Yet this method is not often applied because: (i) of its lower efficiency and the resulting need for larger sample sizes which make applications of RR costly; (ii) despite its privacy-protection mechanism the RR design may not be followed by every respondent; and (iii) the incorrect belief that RR yields estimates only of aggregate-level behavior but that these estimates cannot be linked to individual-level covariates. This paper addresses the efficiency problem by applying item randomized-response (IRR) models for the analysis of multivariate RR data. In these models, a person parameter is estimated based on multiple measures of a sensitive behavior under study which allow for more powerful analyses of individual differences than available from univariate RR data. Response behavior that does not follow the RR design is approached by introducing mixture components in the IRR models with one component consisting of respondents who answer truthfully and another component consisting of respondents who do not provide truthful responses. An analysis of data from two large-scale Dutch surveys conducted among recipients of invalidity insurance benefits shows that the willingness of a respondent to answer truthfully is related to the educational level of the respondents and the perceived clarity of the instructions. A person is more willing to comply when the expected benefits of noncompliance are minor and social control is strong.

Most dichotomous item response models share the assumption of latent monotonicity, which states that the probability of a positive response to an item is a nondecreasing function of a latent variable intended to be measured. Latent monotonicity cannot be evaluated directly, but it implies manifest monotonicity across a variety of observed scores, such as the restscore, a single item score, and in some cases the total score. In this study, we show that manifest monotonicity can be tested by means of the order-constrained statistical inference framework. We propose a procedure that uses this framework to determine whether manifest monotonicity should be rejected for specific items. This approach provides a likelihood ratio test for which the p-value can be approximated through simulation. A simulation study is presented that evaluates the Type I error rate and power of the test, and the procedure is applied to empirical data.

In van der Heijden and de Leeuw (1985) it was proposed to use loglinear analysis to detect interactions in a multiway contingency table, and to explore the form of these interactions with correspondence analysis. After performing the exploratory phase of the analysis, we will show here how the results found in this phase can be used for confirmation.

Loglinear analysis and correspondence analysis provide us with two different methods for the decomposition of contingency tables. In this paper we will show that there are cases in which these two techniques can be used complementary to each other. More specifically, we will show that often correspondence analysis can be viewed as providing a decomposition of the difference between two matrices, each following a specific loglinear model. Therefore, in these cases the correspondence analysis solution can be interpreted in terms of the difference between these loglinear models. A generalization of correspondence analysis, recently proposed by Escofier, will also be discussed. With this decomposition, which includes classical correspondence analysis as a special case, it is possible to use correspondence analysis complementary to loglinear analysis in more instances than those described for classical correspondence analysis. In this context correspondence analysis is used for the decomposition of the residuals of specific restricted loglinear models.

Randomized response is an interview technique for sensitive questions designed to eliminate evasive response bias. Since this elimination is only partially successful, two models have been proposed for modeling evasive response bias: the cheater detection model for a design with two sub-samples with different randomization probabilities and the self-protective no sayers model for a design with multiple sensitive questions. This paper shows the correspondence between these models, and introduces models for the new, hybrid “ever/last year” design that account for self-protective no saying and cheating. The model for one set of ever/last year questions has a degree of freedom that can be used for the inclusion of a response bias parameter. Models with multiple degrees of freedom are introduced for extensions of the design with a third randomized response question and a second set of ever/last year questions. The models are illustrated with two surveys on doping use. We conclude with a discussion of the pros and cons of the ever/last year design and its potential for future research.

The EM algorithm is a popular iterative method for estimating parameters in the latent class model where at each step the unknown parameters can be estimated simply as weighted sums of some latent proportions. The algorithm may also be used when some parameters are constrained to equal given constants or each other. It is shown that in the general case with equality constraints, the EM algorithm is not simple to apply because a nonlinear equation has to be solved. This problem arises, mainly, when equality constraints are defined over probabilities in different combinations of variables and latent classes. A simple condition is given in which, although probabilities in different variable-latent class combinations are constrained to be equal, the EM algorithm is still simple to apply.

The Mediterranean-Dietary Approach to Stop Hypertension (DASH) Intervention for Neurodegenerative Delay (MIND) diet is a dietary pattern designed to prevent cognitive decline. Dietary adherence is assessed with the MIND diet scoring system, which is currently based on the American diet and serving sizes. It is known that serving sizes and consumed food products differ between countries. Existing literature lacks reporting on food products included within the MIND diet and weight or volume equivalents corresponding to MIND diet servings, impeding accurate comparisons across studies. This study sought to overcome these limitations by evaluating MIND food products consumed in the Dutch context and developing a scoring system based on consumed quantities in weight or volume amounts rather than in standard serving amounts. The third objective was to modify an existing Dutch brief FFQ (Eetscore-FFQ) to evaluate adherence to the MIND diet. We translated nine of the fifteen MIND food groups directly to grams and volumes using the United States Department of Agriculture measurement conversion table. For the remaining food groups, we employed indirect translation to align them as closely as possible to the original MIND diet. These translated quantities in weight and volumes amounts were subsequently rounded to the nearest Dutch household measures, resulting in the culturally adapted MIND-NL diet scoring. The development of the MIND-NL-Eetscore-FFQ, comprising seventy-two food items (forty-one questions), is described. Our adaption approach is reproducible and can be used to customize the MIND diet scoring system to other cultures.