Miracle-dz/UniFAR-FTUs huggingface dataset:
Interaction of Crohn's Disease Susceptibility Genes in an Australian Paediatric Cohort

Genetic susceptibility is an important contributor to the pathogenesis of Crohn's disease (CD). We investigated multiple CD susceptibility genes in an Australian paediatric onset CD cohort. Newly diagnosed paediatric onset CD patients (n = 72) and controls (n = 98) were genotyped for 34 single nucleotide polymorphisms (SNPs) in 18 genetic loci. Gene-gene interaction analysis, gene-disease phenotype analysis and genetic risk profiling were performed for all SNPs and all genes. Of the 34 SNPs analysed, four polymorphisms on three genes (NOD2, IL23R, and region 3p21) were significantly associated with CD status (p<0.05). All three CD specific paediatric polymorphisms on PSMG1 and TNFRSF6B showed a trend of association with p<0.1. An additive gene-gene interaction involving TLR4, PSMG1, TNFRSF6B and IRGM was identified with CD. Genes involved in microbial processing (TLR4, PSMG1, NOD2) were significantly associated either at the individual level or in gene-gene interactive roles. Colonic disease was significantly associated with disease SNP rs7517847 (IL23R) (p<0.05) and colonic and ileal/colonic disease was significantly associated with disease SNP rs125221868 (IBD5) and SLC22A4 & SLC22A4/5 variants (p<0.05). We were able to demonstrate genetic association of several genes to CD in a paediatric onset cohort. Several of the observed associations have not been reported previously in association with paediatric CD patients. Our findings demonstrate that CD genetic susceptibility in paediatric patients presents as a complex interaction between numerous genes.
Effect of Remote Sensory Noise on Hand Function Post Stroke

Hand motor impairment persists after stroke. Sensory inputs may facilitate recovery of motor function. This pilot study tested the effectiveness of tactile sensory noise in improving hand motor function in chronic stroke survivors with tactile sensory deficits, using a repeated measures design. Sensory noise in the form of subthreshold, white noise, mechanical vibration was applied to the wrist skin during motor tasks. Hand dexterity assessed by the Nine Hole Peg Test and the Box and Block Test and pinch strength significantly improved when the sensory noise was turned on compared with when it was turned off in chronic stroke survivors. The subthreshold sensory noise to the wrist appears to induce improvements in hand motor function possibly via neuronal connections in the sensoriomotor cortex. The approach of applying concomitant, unperceivable mechanical vibration to the wrist during hand motor tasks is easily adoptable for clinic use as well as unsupervised home use. This pilot study suggests a potential for a wristband-type assistive device to complement hand rehabilitation for stroke survivors with sensorimotor deficit.
When wanting and fearing go together: The effect of co-occurring social approach and avoidance motivation on behavior, affect, and cognition

Three studies investigated the association of social approach and avoidance motivation with cognition, behavior, emotions, and subjective well-being. Study 1 (N = 245), a correlative self-report study, showed that approach and avoidance motivation mediated the effects of adult attachment-styles on social anxiety. A secure attachment-style was associated with co-occurring approach and avoidance motivation. Study 2, a social-interaction study (N = 38), revealed an association of avoidance motivation with a negative experience and passive behavior, and approach motivation with a positive experience and active behavior. Interestingly, the interaction of approach and avoidance motivation predicted engaged behavior and a positive emotional experience. Study 3 (N = 203), an online survey, showed that subjective well-being was negatively associated with high avoidance motivation, irrespective of the strength of approach motivation. Taken together, the studies show that social approach and avoidance motivation interact in predicting positive experiences and social behavior in a concrete social situation. However, from the long-term perspective, the negative consequences of social avoidance motivation seem to prevail when approach and avoidance motivation co-occur. Copyright © 2009 John Wiley & Sons, Ltd.
Patient Data Confidentiality Issues of the Dutch Electronic Health Care Record

Health care is currently in a phase of transition. One of the recent developments that seems to be inescapable is the introduction of an Electronic Health care Record and a central service system that makes all medical data electronically accessible. Many issues, including patient data confidentiality, however, are still not solved satisfactorily. One possible approach to patient data confidentiality is a control and warning system that monitors all access to patient information and flags those requests that do not abide to the law health care providers are expected to follow. In this paper, we investigate the feasibility of a control and warning system at a Dutch hospital, and we analyse whether such an approach is practical and a viable option for providing patient data confidentiality. We provide a conceptual schema of the underlying domain and give empirical results by querying the hospital information system. Our empirical results show that the policy of the hospital for providing patient data confidentiality is unlikely to succeed when scaled up to a National level in its current form. Although experimental results show that the policy can be strengthened considerably by using additional supporting facts from the care process of a patient, this is still insufficient as the number of flagged requests for patient data is too high. Some of these results are, however, caused by the developments of the Dutch health care system, which are not fully reflected yet in the hospital information system analysed. Incorporating these developments may lead to better results with respect to patient data confidentiality.
A general framework for Bi-directional translation between abstract and pictorial data

The merits of direct manipulation are now widely recognized. However, direct manipulation interfaces incur high cost in their creation. To cope with this problem, we present a model of bidirectional translation between pictures and abstract application data, and a prototype system, TRIP2, based on this model. Using this model, general mapping from abstract data to pictures and from pictures to abstract data is realized merely by giving declarative mapping rules, allowing fast and easy creation of direct manipulation interfaces. We apply the prototype system to the generation of the interfaces for kinship diagrams, Graph Editors, E-R diagrams, and an Othello game.
Capsule Endoscopy: From Current Achievements to Open Challenges

Wireless capsule endoscopy (WCE) can be considered an example of disruptive technology since it represents an appealing alternative to traditional diagnostic techniques. This technology enables inspection of the digestive system without discomfort or need for sedation, thus preventing the risks of conventional endoscopy, and has the potential of encouraging patients to undergo gastrointestinal (GI) tract examinations. However, currently available clinical products are passive devices whose locomotion is driven by natural peristalsis, with the drawback of failing to capture the images of important GI tract regions, since the doctor is unable to control the capsule's motion and orientation. To address these limitations, many research groups are working to develop active locomotion devices that allow capsule endoscopy to be performed in a totally controlled manner. This would enable the doctor to steer the capsule towards interesting pathological areas and to accomplish medical tasks. This review presents a research update on WCE and describes the state of the art of the basic modules of current swallowable devices, together with a perspective on WCE potential for screening, diagnostic, and therapeutic endoscopic procedures.
A central limit theorem for the exodic tree and exodic matching in geometrical probability

Given n uniformly and independently distributed points in a ball of unit volume in dimension d, it is well established that the length of several combinatorial optimization problems (including the minimum spanning tree (MST), the minimum matching (M), the traveling salesman problem (TSP), etc.) on these n points obeys laws of large numbers. It has been a long open conjecture that a central limit theorem holds for the length of these problems. In this paper we establish the first central limit theorem in this class of problems for the length of the tree and matching produced by a natural heuristic (the exodic heuristic) for the MST and the minimum matching problem respectively. Moreover, we make precise analytical estimates for the variance of the length that the heuristic produces and verify them experimentally.
Bureaucratic Autonomy, Organizational Culture, and Habituation

What really does change when a bureaucratic agency is created? What will the nature of a new agency’s interactions be with political and administrative actors in its environment? Despite the large interest in administrative reform during the past few decades, there has been only little attention given to institutionalization processes that follow the creation of independent public agencies. This article formulates a model of political-bureaucratic adaptation between politicians and newly established agencies. It is built on the concepts of bureaucratic autonomy, administrative culture, and habituation. The model is illustrated with the case of Independent Administrative Bodies in the Netherlands.
Postoperative Infection After Anterior Cruciate Ligament Reconstruction

Context: Infection after anterior cruciate ligament reconstruction (ACLR) is uncommon; if it occurs, it can lead to disastrous complications. Objective: To analyze post-ACLR infections and identify related complications to provide the most effective treatment protocol. Study Design: Clinical review. Level of Evidence: Level 4. Results: Among approximately 1850 ACLRs performed by a single surgeon over the past 20 years, 7 cases of post-ACLR infection were identified (incidence, 0.37%). Five patients presenting with low-severity infection were successfully treated without any complication or residual functional disability. The remaining 2 patients, although successfully treated, presented with minor residual limitations. From a literature review, 16 studies including 246 cases of infection were reported among 35,795 ACLRs, making the rate of infection 0.68% (range, 0.14%-2.6%). Conclusion: With proper treatment protocols, post-ACLR infection is rare but can compromise outcomes.
Bounds on the Cover Time of Parallel Rotor Walks

The \emph{rotor-router mechanism} was introduced as a deterministic alternative to the random walk in undirected graphs. In this model, a set of $k$ identical walkers is deployed in parallel, starting from a chosen subset of nodes, and moving around the graph in synchronous steps. During the process, each node maintains a cyclic ordering of its outgoing arcs, and successively propagates walkers which visit it along its outgoing arcs in round-robin fashion, according to the fixed ordering. We consider the \emph{cover time} of such a system, i.e., the number of steps after which each node has been visited by at least one walk, regardless of the starting locations of the walks. In the case of $k=1$, Yanovski et al.\ (2003) and Bampas et al.\ (2009) showed that a single walk achieves a cover time of exactly $\Theta(m D)$ for any $n$-node graph with $m$ edges and diameter $D$, and that the walker eventually stabilizes to a traversal of an Eulerian circuit on the set of all directed edges of the graph. For $k>1$ parallel walks, no similar structural behaviour can be observed. In this work we provide tight bounds on the cover time of $k$ parallel rotor walks in a graph. We show that this cover time is at most $\Theta (m D / \log k)$ and at least $\Theta (m D / k)$ for any graph, which corresponds to a speedup of between $\Theta(\log k)$ and $\Theta(k)$ with respect to the cover time of a single walk. Both of these extremal values of speedup are achieved for some graph classes. Our results hold for up to a polynomially large number of walks, $k = O(poly(n))$.
Environmental Activism and Moral Schemas

Why do some people, but not others, participate in environmental activism? This article considers a potentially powerful yet underresearched explanation: variation in moral schemas. Drawing on Durkheim’s theory about the role of sacredness in moral decision making, the article classifies respondents into three mutually exclusive groups: unenchanted, who do not believe nature is sacred; intrinsic, who believe that nature is sacred in itself; and creational, who believe nature is sacred because it is a divine creation. Group membership predicts environmental activism using the 2000 General Social Survey. Individuals holding an intrinsic schema are more likely than other groups to sign an environmental petition and participate in an environmental group. Individuals holding an intrinsic or creational schema are more likely to donate money to environmental causes, relative to the unenchanted. Findings are robust, controlling for religious tradition, education, and various predictors of biographical availability. Both sacredness and its source matter for proenvironmental behavior.
Profunctor Optics: Modular Data Accessors

CONTEXT: Data accessors allow one to read and write components of a data structure, such as the fields of a record, the variants of a union, or the elements of a container. These data accessors are collectively known as optics; they are fundamental to programs that manipulate complex data. INQUIRY: Individual data accessors for simple data structures are easy to write, for example as pairs of "getter" and "setter" methods. However, it is not obvious how to combine data accessors, in such a way that data accessors for a compound data structure are composed out of smaller data accessors for the parts of that structure. Generally, one has to write a sequence of statements or declarations that navigate step by step through the data structure, accessing one level at a time - which is to say, data accessors are traditionally not first-class citizens, combinable in their own right. APPROACH: We present a framework for modular data access, in which individual data accessors for simple data structures may be freely combined to obtain more complex data accessors for compound data structures. Data accessors become first-class citizens. The framework is based around the notion of profunctors, a flexible generalization of functions. KNOWLEDGE: The language features required are higher-order functions ("lambdas" or "closures"), parametrized types ("generics" or "abstract types"), and some mechanism for separating interfaces from implementations ("abstract classes" or "modules"). We use Haskell as a vehicle in which to present our constructions, but languages such as Java, C#, or Scala that provide the necessary features should work just as well. GROUNDING: We provide implementations of all our constructions, in the form of a literate program: the manuscript file for the paper is also the source code for the program, and the extracted code is available separately for evaluation. We also prove the essential properties demonstrating that our profunctor-based representations are precisely equivalent to the more familiar concrete representations. IMPORTANCE: Our results should pave the way to simpler ways of writing programs that access the components of compound data structures.
Human-specific derived alleles of CD33 and other genes protect against postreproductive cognitive decline

Significance Most vertebrates die soon after they stop reproducing, but humans are an exception. Postreproductive humans care for offspring, assist in foraging, and communicate ecological and cultural knowledge, increasing the survival of younger individuals. Loss of cognitive capacity disrupts these benefits and burdens the group with the care of older members. We studied how the immunoregulatory receptor CD33 contributes to Alzheimer’s disease, a human-specific postreproductive condition. Surprisingly, a protective CD33 allele is derived and unique to humans, despite weak direct selection on older individuals. We identified several genes with derived alleles that protect against neurodegenerative disease and cerebrovascular insufficiency in old age. Selection by inclusive fitness may be strong enough to favor alleles that protect against cognitive decline in postreproductive humans. The individuals of most vertebrate species die when they can no longer reproduce. Humans are a rare exception, having evolved a prolonged postreproductive lifespan. Elders contribute to cooperative offspring care, assist in foraging, and communicate important ecological and cultural knowledge, increasing the survival of younger individuals. Age-related deterioration of cognitive capacity in humans compromises these benefits and also burdens the group with socially costly members. We investigated the contribution of the immunoregulatory receptor CD33 to a uniquely human postreproductive disease, Alzheimer’s dementia. Surprisingly, even though selection at advanced age is expected to be weak, a CD33 allele protective against Alzheimer’s disease is derived and unique to humans and favors a functional molecular state of CD33 resembling that of the chimpanzee. Thus, derived alleles may be compensatory and restore interactions altered as a consequence of human-specific brain evolution. We found several other examples of derived alleles at other human loci that protect against age-related cognitive deterioration arising from neurodegenerative disease or cerebrovascular insufficiency. Selection by inclusive fitness may be strong enough to favor alleles protecting specifically against cognitive decline in postreproductive humans. Such selection would operate by maximizing the contributions of postreproductive individuals to the fitness of younger kin.
Effect of increased body mass index on asthma risk, impairment and response to asthma controller therapy in African Americans

Abstract Objective: To explore whether obesity alters the risk, impairment and response to treatment in African Americans with asthma. Methods: The data used for this secondary analysis are from a 1-year study in African American subjects comparing fluticasone propionate/salmeterol 100/50 µg combination (FSC) and fluticasone propionate 100 µg (FP). Subjects were retrospectively stratified by body mass index (BMI) <20 [underweight], 20–24.9 [normal weight], 25–29.9 [overweight], 30–34.9 [obese I], 35–39.9 [obese II], and ≥40 [obese III] kg/m2. Outcomes studied included impairment domains: FEV1, morning and evening peak expiratory flow (AM and PM PEF), daily albuterol use, daily symptom scores and future risk domain: exacerbations. Clinical trial registration: www.clinicaltrials. gov; NCT00102765 Results: There were 475 subjects evenly distributed between FSC and FP by baseline parameters. There were 207 subjects with a BMI ≥30, including 70 subjects with a BMI ≥40. Baseline BMI ≥40 was associated with numerically lower baseline AM and PM PEF. There was an attenuation of response to both treatments for only PM PEF (p < 0.05). By contrast, subjects with lower degrees of obesity or overweight did not differ from those with normal weight. The total population exacerbation rate was 2-fold greater in obese III subjects (39%) compared with subjects in other BMI categories (16–21%) (p < 0.05). A potential study limitation is the retrospective analysis of existing data. Discussion: Response to treatment was attenuated for PM PEF for subjects with BMI ≥40 and was also associated with an increased rate of asthma exacerbations.
Vitamin D deficiency and insufficiency in patients with chronic kidney disease.

INTRODUCTION Vitamin D deficiency is common among patients with chronic kidney disease (CKD). A higher level of serum vitamin D is expected in residents of the tropics in relation to inhabitants of non-tropical regions, due to greater sun exposure and increased production of vitamin D. OBJECTIVE To analyze serum levels of vitamin D, such as 25-hydroxyvitamin D - 25(OH)D, in Brazilian patients at the predialytic stage with CKD. METHODS We studied 125 patients (aged 57.4 ± 16.2 years, 78 were white and 55.2%, male), with creatinine 2.67 ± 1.73 mg/dL and creatinine clearance 43.7 ± 34.5 mL/min. Body mass index was 27.4 ± 4.7 kg/m², and waist circumference was 95.0 ± 14.0 cm. Calcium was 9.3 ± 0.6 mg/dL, intact parathormone (iPTH) 212.6 ± 221.2 pg/mL and serum albumin 4.2 ± 0.6 g/dL. The mean 25(OH)D was 23.9 ± 10.7 ng/mL. RESULTS Out of the 125 patients, we found that 92 (72.6%) had suboptimal levels of 25(OH)D < 30 ng/mL, and 65 (52%) had vitamin D insufficiency (15-29 ng/mL); 27 (21.5%) had deficiency (5-14 ng/mL) and only one patient had severe vitamin D deficiency <5 ng/mL. No differences were observed among the levels of 25 (H)D in stratified patients as to the CKD stage. Levels of 25(OH)D were higher among males (38.1 ± 20.6 versus 22.4 ± 9.7 ng/mL; p < 0.0001), and there was an inverse correlation between levels 25(OH)D and iPTH, proteinuria and abdominal circumference, and a positive correlation between 25(OH)D and calcium and serum albumin. Multivariate analysis only showed inverse correlation between serum 25(OH)D and iPTH and abdominal circumference. CONCLUSION Even though the Brazilian population live in a tropical region, most patients had suboptimal levels of serum vitamin D, and this pattern may play a role in the development of hyperparathyroidism.
Contextual Control of Latent Inhibition by the Reinforcer

Three experiments examined the contextual control of latent inhibition (LI) by the unconditioned stimulus (US) using a within-subjects conditioned suppression procedure with rats. The effect of reducing the context change produced by the introduction of the shock US was investigated by presenting this US during preexposure to the conditioned stimulus (CS). Although limited CS preexposure in the absence of the US had no impact on subsequent conditioning, preexposure in the presence of the shock retarded both excitatory and inhibitory conditioning. We conclude that the introduction of the US during the conditioning phase of a normal LI experiment can produce a contextual change that reduces the observed magnitude of LI.