Miracle-dz/UniFAR-FTUs huggingface dataset:
Regressive threshold model for familial analysis of complex diseases with variable age of onset

Few models for segregation (or combined segregation‐linkage) analysis have been developed to account for variable age of onset. The unified model (UM) can only take into account age at examination. In the logistic hazard model (LHM), Abel and Bonney ([1990] Genet. Epidemiol. 7:391–407) incorporated survival analysis concepts into the regressive logistic model of Bonney ([1986] Am. J. Med. Genet. 18:731–749), but interpretation of familial dependence parameters is difficult. In this article, we extended the regressive threshold model (RTM) proposed by Demenais ([1991] Am. J. Hum. Genet. 49:773–785) to account for a variable age of onset of complex diseases. This model assumes an underlying liability to disease and is more general than the original logistic formulation, since the phenotypes of each individual's antecedents can be adjusted for their own genotypes and covariate effects. The variation of risk with age can be expressed as a general step function, and variants of the model have been proposed by imposing different types of constraints among the time‐dependent thresholds. The performances of the three models (UM, LHM, and RTM) were compared in the context of segregation analysis of family data generated with variable age of onset. All analysis models were robust with respect to false conclusion of a major gene, and the best results were obtained under RTM. The power to detect the major gene was higher under LHM than RTM, but the best fit of the estimated cumulative age‐dependent penetrance with respect to the true value was obtained under RTM. This new model may thus prove helpful in contributing to identification of genes underlying complex diseases, since it can easily include linked marker loci and linkage disequilibrium. Genet. Epidemiol. 23:375–397, 2002. © 2002 Wiley‐Liss, Inc.
Craft Your Job and Get Engaged: Sustainable Change-Oriented Behavior at Work

Employees’ change-oriented behavior is known to be critical in promoting organizational changes for a sustainable organization. However, few studies have explored how this behavior can be potentially promoted by job-crafting and work engagement. This study examined the relationship between job-crafting and change-oriented behaviors (adaptive and proactive behaviors), as well as the mediating effect of work engagement. Hypotheses were tested with a structural equation modeling analysis. A total of 459 employees in the Korean automobile manufacturing industry participated in the study. The results show that job-crafting had a positive effect on adaptive behaviors and proactive behaviors. Moreover, seeking job resources and seeking job challenges promoted change-oriented behaviors through work engagement. Based on these results, practical implications are suggested for the development of a sustainable organization.
Evaluation of interarm blood pressure differences using the Microlife WatchBP Office in a clinical setting

Objective The aim of this study was to evaluate the usefulness of Microlife WatchBP Office and the effect of increasing the number of measurements in the clinical evaluation of systolic interarm difference (IAD). Patients and methods Office blood pressure was measured simultaneously on both arms in 339 patients (85% diabetic) using the Microlife WatchBP Office, a fully automatic, oscillometric device. The patients included were all scheduled for ambulatory blood pressure measurement at the outpatient clinic of endocrinology at Silkeborg Regional Hospital, Denmark. Two successive sets of three individual measurements were made. A statistical analysis of variance was carried out on the measurements. Results In the first set of measurements, the mean IAD was −0.3 mmHg and the prevalence of IAD greater than or equal to 10 mmHg was 9.1%. Only 7.6% of the patients with an IAD less than 10 mmHg in the first set of measurements had an IAD greater than or equal to 10 mmHg in the second set of measurements. The 95% limits of agreement for the mean IAD for a single set of three measurements were ±13.16 mmHg. The probability of detecting an IAD more than 10 mmHg only increased slightly with an increasing number of measurements. Conclusion A single set of triplicate measurements using Microlife WatchBP is an acceptable method for evaluating IAD as more measurements do little to improve the probability of detecting an IAD more than 10 mmHg because of high intraindividual variation.
Association rules mining for handling continuous attributes using genetic network programming and fuzzy membership functions

Data mining is the process of extracting useful hidden knowledge from large volumes of data and its results can be used in decision support systems. Several data mining algorithms have been developed; one example is the association rule mining, which discovers associations among items encoded within a database. When the values of the attributes in a database are continuous such as height, length or weight, their domain is usually discretized into several intervals, as a result, such attributes are handled as discrete attributes. In this study, a new approach of mining association rules for handling continuous attributes that does not use any discretization is proposed. The methodology is based on a new graph-based evolutionary algorithm named "genetic network programming (GNP)" and fuzzy membership functions. Our data mining method first needs to transform the continuous values in transactions into linguistic terms, then judge them and find association rules using GNP. GNP represent its individuals using graph structures that evolve in order to find a solution; this feature contributes to creating quite compact programs and implicitly memorizing past action sequences. The proposed method can measure the significance of the extracted association rules by using support, confidence and chi2 test, and obtains a sufficient number of important association rules in a short time.
Meta‐analysis of the randomized controlled trials of the hemostatic efficacy and capacity of pathogen‐reduced platelets

BACKGROUND: A recent independently funded randomized controlled trial (RCT; Br J Haematol 2010;150:209‐17) questioned prevailing opinion concerning the hemostatic capacity of pathogen‐reduced platelets (PLTs). Meta‐analysis was used to calculate the effect of pathogen reduction (PR) of PLTs on hemostatic efficacy and capacity based on all available data and to investigate possible reasons for the variation in reported findings.
Toward a systematic approach to assessment and care planning in palliative care: A practical review of clinical tools

ABSTRACT Objective: Ensuring a consistent and systematic approach to the delivery of care for people with advanced disease is a priority for palliative care services worldwide. Many clinical tools are available to aid in this process; however, they are often used sporadically, and implementation of a routine set of clinical tools to guide care planning in the specialist palliative care sector in Australia has not been achieved. This study sought to recommend key clinical tools that may assist with the assessment and care planning of specialist palliative care provision for patients and family caregivers admitted to specialist palliative care settings (home, hospital, and hospice). Method: A mixed-methods sequential approach over four phases was employed, involving: (1) a palliative care sector survey, (2) a systematic literature review, (3) an appraisal of identified clinical tools, and (4) a focus group with an expert panel who critiqued and endorsed a final suite of clinical tools recommended for specialist palliative care. Results: Twelve tools with practical relevance were recommended for use across settings of care. Significance of Results: Palliative services should review current practices and seek to implement this recommended suite of tools to enhance assessment and guide care delivery across care settings. Subsequent evaluation should also occur.
Hemodialysis for end-stage renal disease: A cost-effectiveness analysis of treatment options

Background: During 2001, over 32,000 patients in the United Kingdom received renal replacement therapy (RRT). Approximately half had a functioning transplant, with the remainder receiving dialysis therapy. The main form of dialysis is hemodialysis (HD), which is provided to 37.1 percent of the RRT population. HD is provided in three main settings: hospital (24.5 percent), satellite (10.9 percent), or home (1.7 percent). The objective of this study is to explore the cost-effectiveness of these different modalities. Methods: By using clinical and cost data from a systematic review, a Markov model was developed to assess the costs and benefits of the three different modalities. The model included direct health service costs and quality-adjusted life years (QALYs). Sensitivity analyses were performed to assess the robustness of the results. Results: Satellite HD has lower costs £46,000 and £62,050 at 5 and 10 years than home HD £47,660 and £63,540. The total effectiveness of home HD was slightly greater than for satellite HD, so the incremental cost per QALY of home versus satellite HD was modest at £6,665 at 5 years and £3,943 at 10 years. Both modalities dominated hospital HD. Conclusions: Results from the study reveal that satellite HD was less costly than home HD, and home HD was less costly than hospital HD. The lack of robust data on the effectiveness and new dialysis equipment, which were not included in this review, throws some caution on these results. Nonetheless, the results are supportive of a shift from hospital HD to satellite and home HD.
Efficacy of very low-dose prostaglandin E1 in duct-dependent congenital heart disease

Abstract Aim The present study aims to define the lowest effective prostaglandin E1 dose in patients with inadequacy of pulmonary blood flow and/or intracardiac blood mixing and those with inadequate systemic blood flow. Methods Patients with inadequacy of both pulmonary blood flow and/or blood mixing (Group 1) and those with inadequate systemic blood flow (Group 2) were retrospectively evaluated in two separate groups with regard to the prostaglandin E1 starting dose given in the referring facility, the lowest and the highest dose administered in our centre, treatment duration, adverse effects, and administered treatment. Results No difference between the groups could be detected with respect to sex or birth weight (p=0.95 and 0.42, respectively). Group 1 and Group 2 were statistically similar in aspect of prostaglandin treatment duration (9.73±0.81 days versus 11.6±1.05 days, p=0.064). When compared with Group 2, the initial, maintenance and lowest efficient doses of prostaglandin E1 treatment were significantly lower and the titrated dose of prostaglandin E1 was significantly higher in Group 1 (p=0.001 for each). Conclusion Our findings indicate that the infusion of prostaglandin at a very low dose (0.003–0.005 mcg/kg/minute) is sufficient to maintain the patency of the ductus arteriosus. A higher dose of prostaglandin E1 may be necessary in patients with inadequate systemic blood flow.
Ileal Glucose Infusion Leads to Increased Insulin Sensitivity and Decreased Blood Glucose Levels in Wistar Rats

ABSTRACT Purpose of the study: Rerouting of nutrients and/or increasing nutrient delivery to the small intestine after Roux-en-Y gastric bypass may have important potential as a diabetes treatment modality. However, it is still important question which part of the gastrointestinal tract is the most important for control of glycemia. The aim of this study was to investigate the role of different segments of the gastrointestinal tract on glucose metabolism in the physiological state. Materials and Methods: Forty 12-week-old male Wistar rats were divided into the following four groups of 10 animals each: the gastrostomy group, the duodenostomy group, the jejunostomy group, and the ileostomy group. All rats were subjected to a glucose tolerance test by infusion of glucose via the surgically inserted tubes in the stomach (gastrostomy), in the duodenum (duodenostomy), in the jejunum (jejunostomy), or in the ileum (ileostomy). Plasma glucagon-like peptide-17–36 (GLP-17–36) and insulin levels during the glucose tolerance test were assayed and Matsuda index was calculated. Results: Ileostomy rats exhibited significantly lower glycemic excursions compared with gastrostomy, duodenostomy, and jejunostomy rats. Insulin and GLP-1 levels during the glucose tolerance test were significantly higher in duodenostomy and jejunostomy rats than in gastrostomy and ileostomy rats. Matsuda index was significantly higher in ileostomy rats than in duodenostomy and jejunostomy rats. Conclusion: Ileal glucose infusion leads to increased insulin sensitivity, further decreasing blood glucose levels.
INVESTIGATION: Gene Expression Allelic imbalance is a prevalent and tissue-specific feature of the mouse

In mammals, several classes of monoallelic genes have been identified, including those subject to X-chromosome inactivation (XCI), genomic imprinting, and random monoallelic expression (RMAE). However, the extent to which these epigenetic phenomena are influenced by underlying genetic variation is unknown. Here we perform a systematic classification of allelic imbalance in mouse hybrids derived from reciprocal crosses of divergent strains. We observe that deviation from balanced biallelic expression is common, occurring in ~20% of the mouse transcriptome in a given tissue. Allelic imbalance attributed to genotypic variation is by far the most prevalent class and typically is tissue-specific. However, some genotype-based imbalance is maintained across tissues and is associated with greater genetic variation, especially in 5’ and 3’ termini of transcripts. We further identify novel random monoallelic and imprinted genes, and find that genotype can modify penetrance of parental origin even in the setting of large imprinted regions. Examination of nascent transcripts in single cells from inbred parental strains reveals that genes showing genotype-based imbalance in hybrids can also exhibit monoallelic expression in isogenic backgrounds. This surprising observation may suggest a competition between alleles and/or reflect the combined impact of cis and trans -acting variation on expression of a given gene. Our findings provide novel insights into gene regulation and may be relevant to human genetic variation and disease. organisms It is generally assumed that both alleles are equally expressed, although examples of allelic imbalance due to epigenetic phenomena have been identified. Here we measure allele-specific gene expression in hybrid offspring from genetically distinct mice and reveal allelic imbalance in one-fifth of all expressed genes. While genetic differences most likely account for the majority of this phenomenon, some of these genes are surprisingly already monoallelic in inbred strains, potentially predisposing them to becoming genotypically biased in hybrids. Our results reveal the impact of genetics on allelic imbalance and may be relevant to human genetic variation and disease.
[Health behavior factors affecting waist circumference as an indicator of abdominal obesity].

OBJECTIVES This study was performed to identify the socioeconomic factors, the psychosocial factors and the heath behavior factors that have an influence on abdominal obesity, as measured by using the waist circumference. METHODS Data was obtained from individuals aged above 20 years who had their waist circumference measured on the Korean National Health and Nutrition Examination Survey 2001, which was a cross-sectional health survey. RESULTS Regression analysis of the factors that affect abdominal obesity showed that the education level, income, smoking, duration of smoking, drinking consumption, frequency of exercises and sleeping were the associated factors for abdominal obesity. For men, the duration of smoking, education level, income and drinking consumption were the associated factors for abdominal obesity. For woman, the education level, income, duration of smoking, drinking consumption and frequency of exercise were the associated factors for abdominal obesity. CONCLUSIONS Abdominal obesity is a risk factor for morbidity and mortality, and it is associated with chronic diseases, including cardiovascular disease and diabetes. Based on the findings, it is essential to modify heath behaviors for preventing abdominal obesity, which is a condition associated with the incidence of chronic disease.
Early selectivity for vocal and musical sounds: electrophysiological evidence from an adaptation paradigm

There is growing interest in characterizing the neural basis of music perception and, in particular, assessing how similar, or not, it is to that of speech. To further explore this question, we employed an EEG adaptation paradigm in which we compared responses to short sounds belonging to the same category, either speech (pseudo‐sentences) or music (piano or violin), depending on whether they were immediately preceded by a same‐ or different‐category sound. We observed a larger reduction in the N100 component magnitude in response to musical sounds when they were preceded by music (either the same or different instrument) than by speech. In contrast, the N100 amplitude was not affected by the preceding stimulus category in the case of speech. For P200 component, we observed a diminution of amplitude when speech sounds were preceded speech, compared to music. No such decrease was found when we compared the responses to music sounds. These differences in the processing of speech and music are consistent with the proposal that some degree of category selectivity for these two classes of complex stimuli already occurs at early stages of auditory processing, possibly subserved by partly separated neuronal populations.
The Short-Rooted Phenotype of the brevis radix Mutant Partly Reflects Root Abscisic Acid Hypersensitivity1[C][W][OA]

To gain further insight into abscisic acid (ABA) signaling and its role in growth regulation, we have screened for Arabidopsis (Arabidopsis thaliana) mutants hypersensitive to ABA-mediated root growth inhibition. As a result, we have identified a loss-of-function allele of BREVIS RADIX (BRX) in the Columbia background, named brx-2, which shows enhanced response to ABA-mediated inhibition of root growth. BRX encodes a key regulator of cell proliferation and elongation in the root, which has been implicated in the brassinosteroid (BR) pathway as well as in the regulation of auxin-responsive gene expression. Mutants affected in BR signaling that are not impaired in root growth, such as bes1-D, bzr1-D, and bsu1-D, also showed enhanced sensitivity to ABA-mediated inhibition of root growth. Triple loss-of-function mutants affected in PP2Cs, which act as negative regulators of ABA signaling, showed impaired root growth in the absence of exogenous ABA, indicating that disturbed regulation of ABA sensitivity impairs root growth. In agreement with this result, diminishing ABA sensitivity of brx-2 by crossing it with a 35S:HAB1 ABA-insensitive line allowed significantly higher recovery of root growth after brassinolide treatment. Finally, transcriptomic analysis revealed that ABA treatment negatively affects auxin signaling in wild-type and brx-2 roots and that ABA response is globally altered in brx-2. Taken together, our results reveal an interaction between BRs, auxin, and ABA in the control of root growth and indicate that altered sensitivity to ABA is partly responsible for the brx short-root phenotype.
Verification and Validation of a Cyber-Physical System in the Automotive Domain

Software development for Cyber-Physical Systems (CPS), e.g., autonomous vehicles, requires both functional and non-functional quality assurance to guarantee that the CPS operates safely and effectively. EAST-ADL is a domain specific architectural language dedicated to safety-critical automotive embedded system design. We have previously modified EAST-ADL to include energy constraints and transformed energy-aware real-time (ERT) behaviors modeled in EAST-ADL/Stateflow into UPPAAL models amenable to formal verification. Previous work is extended in this paper by including support for Simulink and an integration of Simulink/Stateflow (S/S) within the same too lchain. S/S models are transformed, based on the extended ERT constraints with probability parameters, into verifiable UPPAAL-SMC models and integrate the translation with formal statistical analysis techniques: Probabilistic extension of EAST-ADL constraints is defined as a semantics denotation. A set of mapping rules is proposed to facilitate the guarantee of translation. Formal analysis on both functional- and non-functional properties is performed using Simulink Design Verifier and UPPAAL-SMC. Our approach is demonstrated on the autonomous traffic sign recognition vehicle case study.
Towards national measures of alcohol-related crime

Research has demonstrated that alcohol misuse has a significant impact on police time and resources, the health sector and the Australian community more broadly. Despite growing interest in the topic and the number of studies that have been completed, there remain significant limitations to the national measurement of alcohol-related crime. While recent studies have canvassed the challenges of measuring alcohol-related crime and proposed possible solutions, this study set out to bridge a gap in the knowledge and understanding of the steps that need to be taken to establish practical, high-quality indicators of alcohol-related crime at a national level. The Intergovernmental Committee on Drugs commissioned the Australian Institute of Criminology to undertake a review of policing and non-policing data on the involvement of alcohol in crime and to identify the short-, medium- and longer-term options available for better understanding and measuring the magnitude of alcohol-related crime in Australia. Based on an extensive review of the literature, interviews with representatives from all state and territory police agencies and a range of non-policing agencies, and a review of existing data sources, this report describes the data that are currently available to measure the involvement of alcohol in crime, the strengths and limitations of these data and the issues that will likely impact on future efforts to measure alcohol-related crime at the national level. The report ends by proposing a suite of national indicators of alcohol-related crime.
Complementary cortical gray and white matter developmental patterns in healthy, preterm neonates

Preterm birth is associated with brain injury and altered cognitive development. However, the consequences of extrauterine development are not clearly distinguished from perinatal brain injury. Therefore, we characterized cortical growth patterns from 30 to 46 postmenstrual weeks (PMW) in 27 preterm neonates (25–32 PMW at birth) without detectable brain injury on magnetic resonance imaging. We introduce surface‐based morphometric descriptors that quantify radial (thickness) and tangential (area) change rates. Within a tensor‐based morphometry framework, we use a temporally weighted formulation of regression to simultaneously model local age‐related changes in cortical gray matter (GM) and underlying white matter (WM) mapped onto the cortical surface. The spatiotemporal pattern of GM and WM development corresponded to the expected gyrification time course of primary sulcal deepening and branching. In primary gyri, surface area and thickness rates were below average along sulcal pits and above average on gyral banks and crests in both GM and WM. Above average surface area rates in GM corresponded to emergence of secondary and tertiary folds. These findings map the development of neonatal cortical morphometry in the context of extrauterine brain development using a novel approach. Future studies may compare this developmental trajectory to preterm populations with brain injury. Hum Brain Mapp 38:4322–4336, 2017. © 2017 Wiley Periodicals, Inc.