Miracle-dz/UniFAR-FTUs huggingface dataset:
Targeted Whole Exome Sequencing in Children With Early-Onset Epilepsy: Parent Experiences

This study investigated the experiences of 25 caregivers of children with early-onset, treatment-resistant epilepsy who pursued whole exome sequencing to determine the impact of the test results on their child’s treatment. Caregivers who consented to be recontacted were recruited from a previous study investigating the diagnostic yield of whole exome sequencing. A semistructured interview addressed questions based on one of 2 study phases. The first phase discussed the decision-making process for genetic testing (15 interviews), which revealed 4 major themes: (1) prognosis, (2) engagement, (3) concerns, and (4) autonomy. The second phase discussed the impact of genetic testing on treatment (10 interviews), which revealed 3 major themes: (1) testing features, (2) emotional impact, and (3) treatment outcomes. Overall, parents pursued genetic testing to obtain a clear prognosis, inform treatment decisions, engage with other families, and exercise autonomy. Caregivers felt that early testing is warranted to inform their child’s diagnostic odyssey.
Active Crowdsourcing for Multilabel Annotation

Multilabel annotation is a critical step to generate training sets when learning classification models in various application domains, but asking domain experts to provide labels is usually time-consuming and expensive, which cannot meet the current requirement of the fast evolution of the models in the big data era. Although crowdsourcing provides a fast solution to acquire labels for multilabel learning, it faces the risk of high data acquisition cost and low label quality. This article proposes a novel one-coin label-dependent active crowdsourcing (OCLDAC) method to iteratively query noisy labels from crowd workers and learn multilabel classification models. In each iteration of active learning, integrated labels of instances are first inferred by a novel one-coin label-dependent model, which utilizes a mixture of multiple independent Bernoulli distributions to explore and exploit correlations among the labels to increase the accuracy of truth inference. Then, instances, labels, and workers are selected according to the novel strategies that incorporate the distribution of noisy labels, the prediction probability of learning models, label correlations, and the reliability of crowd workers. Simulations on eight multilabel datasets and evaluation on one real-world crowdsourcing dataset consistently show that the proposed OCLDAC significantly outperforms the state-of-the-art methods and their variants.
Multivariate Unit Root Tests and Testing for Convergence

We examine the properties of a multivariate Dickey-Fuller t-statistic designed to test for a unit root in a panel while taking account of cross-sectional dependence. The asymptotic distribution is presented and critical values provided. When intercepts are present, a modification along the lines of Elliot, Rothenberg and Stock (1996) can be implemented. The tests have invariance properties and can be carried out even if the number of series exceeds the number of time periods. Non-zero initial conditions actually boost the power of the (unmodified) Dickey-Fuller tests confirming that they are useful for testing the hypothesis that the series are in the process of converging. Typical applications are for a moderate number of series observed over a reasonably long period of time. The example given is for the per capital incomes of six US regions observed annually from 1950 to 1999.
Stability of infinite dimensional stochastic differential equations with applications

Preface STOCHASTIC DIFFERENTIAL EQUATIONS IN INFINITE DIMENSIONS Notations,Definitions and Preliminaries Wiener Processes and Stochastic Integration Definitions and Methods of Stability Notes and Comments STABILITY F LINEAR STOCHASTIC DIFFERENTIAL EQUATIONS Stable Semigroups Lyapunov Equations and Stability Uniformly Asymptotic Stability STABILITY F NONLINEAR STOCHASTIC DIFFERENTIAL EQUATIONS Equivalence of L p -Stability and Exponential Stability A Coerciv Decay Condition Stability of Semilinear Stochastic Evolution Equations Lyapunov Functions for Strong Solutions Two Applications Further Results on Invariant Measures Stability,Ultimate Boundedness of Mild Solutions and Invariant Measures Decay Rates of Systems Stabilization of Systems by Noise Lyapunov Exponents and Stabilization Notes and Comments STABILITY OF STOCHASTIC FUNCTIONAL DIFFERENTIAL EQUATIONS Linear Deterministic Equations Stability Equivalence and Reduction of Neutral Equations . Decay Criteria of Stochastic Delay Differential Equations Razumikhin Type Stability Theorems Notes and Comments SOME RELATED TOPICS OF STABILITY AND APPLICATIONS Parabolic Equations with Boundary and Pointwise Noise Stochastic Stability and Quadratic Control Feedback Stabilization of Stochastic Differential Equations Stochastic Models in Mathematical Physics Stochastic Systems Related to Multi-Species Population Dynamics Notes and Comments Appendix A: The Proof of Proposition Appendix B: Existence and Uniqueness of Strong Solutions of Stochastic Delay Differential Equations References Index
Examining the Psychometric Properties of the Expanded Levenson Self-Report Psychopathy Scale in Community and University Samples

The aim of the current study was to further examine the psychometric properties of the Expanded Levenson Self-Report Psychopathy Scale (E-LSRP; Christian & Sellbom, 2016). Specifically, its reliability, internal structure, and convergent and discriminant validity were evaluated using university (N = 367) and community samples (N = 205) from Aotearoa New Zealand. The results provided support for the reliability and validity of the E-LSRP in both samples. More specifically, the internal consistency estimates of the E-LSRP were above the meaningful threshold, indicating good reliability. Furthermore, using confirmatory factor analysis, the hypothesized three-factor structure was supported and conceptually consistent with Cooke and Michie’s (2001) Psychopathy Checklist-Revised (PCL-R) three-factor model. Lastly, the results generally provided support for the convergent and discriminant validity of the E-LSRP subscales; the E-LSRP Egocentricity was associated with criteria relevant to interpersonal impairment, the Callous scale with criteria relevant to the affective psychopathy domain, and the Antisocial scale with criteria representing behavioral dysfunction. Overall, the E-LSRP is a promising tool for assessing psychopathy in nonincarcerated populations.
Identifying group‐specific primers for environmental Heterolobosa by high‐throughput sequencing

Diversity of Heterolobosea (Excavata) in environments is poorly understood despite their ecological occurrence and health‐associated risk, partly because this group tends to be under‐covered by most universal eukaryotic primers used for sequencing. To overcome the limits of the traditional morpho‐taxonomy‐based biomonitoring, we constructed a primer database listing existing and newly designed specific primer pairs that have been evaluated for Heterolobosea 18S rRNA sequencing. In silico taxonomy performance against the current SILVA SSU database allowed the selection of primer pairs that were next evaluated on reference culture amoebal strains. Two primer pairs were retained for monitoring the diversity of Heterolobosea in freshwater environments, using high‐throughput sequencing. Results showed that one of the newly designed primer pairs allowed species‐level identification of most heterolobosean sequences. Such primer pair could enable informative, cultivation‐free assays for characterizing heterolobosean populations in various environments.
Approximation of generalized and steady Stokes problems using dual-mixed finite elements without enrichment

A method of modifying an electrophotographic process in response to an environmental factor within an electrophotographic area of a printing device is disclosed. The method includes sensing the environmental factor within the electrophotographic area of the printing device and modifying the electrophotographic process in response to the sensed environmental factor. A computer readable medium on which is embedded computer software is also disclosed. The software is executable to perform the above mentioned method. A system for performing the above mentioned method is also disclosed.
Rare delayed cardiac tamponade in a pig after cardiac surgery

Abstract Objective Delayed cardiac tamponade, a life‐threatening complication of pericardial effusion in humans, has rarely been described in large animal models. We report here a pig with cardiac tamponade that developed 29 days after cardiac surgery. Study Design Case report. Animals One 45‐kg domestic pig. Methods Open‐chest surgery was performed on a pig to induce chronic heart failure. At 15 days after surgery, the pig's breathing appeared laboured; induced heart failure was considered the cause. Routine heart failure medications were administered. Results On day 28, the pig's status deteriorated. On day 29, echocardiography performed just before the pig's death showed a large pericardial effusion, mainly in the lateral and anterior walls of the right heart, with several fibre exudation bands. The right heart was severely compressed with an extremely small right ventricle. An emergency sternotomy was unsuccessful. Pathologic examination showed a severely thickened, fibrous pericardium. The pericardial sac was distended (up to 4.5 cm) and was full of dark brown, soft, friable material. Epicardial haemorrhage with a fresh, organised thrombus was noted in the pericardium. Conclusion Delayed tamponade occurring at least 15 days after open‐chest surgery is easy to misdiagnose or overlook in large animal models where attention is often focused on primary pathological model changes. To decrease mortality in animal models, researchers should be aware of potential complications and use the same level of follow‐up monitoring of large animals as in clinical care.
Describing the natural history of clinical, biochemical and radiological outcomes of children with familial partial lipodystrophy type 2 (FPLD2) from the United Kingdom: A retrospective case series

Familial partial lipodystrophy type 2 (FPLD2) results from autosomal dominant mutations in the LMNA gene, causing lack of subcutaneous fat deposition and excess ectopic fat accumulation, leading to metabolic complications and reduced life expectancy. The rarity of the condition means that the natural history of FPLD2 throughout childhood is not well understood. We report outcomes in a cohort of 12 (5M) children with a genetic diagnosis of FPLD2, under the care of the UK National Severe Insulin Resistance Service (NSIRS) which offers multidisciplinary input including dietetic, in addition to screening for comorbidities.
Blood donation behaviour and attitudes towards the 12‐month deferral policy among gay and bisexual men in New Zealand

Gay and bisexual men (GBM) are deferred from donating blood in many countries. Perceptions by GBM that blood donor deferral policies are unjustifiably discriminatory, especially due to advances in HIV prevention, could contribute to non‐compliance and need to be understood. We explore blood donation interest and history among GBM and attitudes towards donor deferral policies for the first time in New Zealand (NZ).
Valve implantation for successful sealing of a balloon predilatation‐induced annular rupture during transcatheter aortic valve replacement

Annular rupture is a rare and dreaded complication of transcatheter aortic valve replacement (TAVR) and even rarer when caused by predilatation balloon aortic valvuloplasty. This complication often presents as sudden cardiac tamponade with hypotension and requires urgent intervention. The traditional rescue strategy for patients with annular rupture is emergency surgical repair. However, the mortality rate is still high, considering that most patients who undergo TAVR are not candidates for conventional cardiac surgery. Therefore, there is a need for additional emergency treatment strategies to decrease mortality. This report describes a case of predilatation‐induced annular rupture during TAVR that was successfully sealed at the rupture site by valve implantation. This case suggests that continuing with valve deployment may be a successful treatment for predilatation‐induced annular rupture during TAVR.
Understanding online self-directed learning using point of care information systems (POCIS): A plot study using a capability approach perspective

Abstract Purpose of the study Understanding self-directed learning (SDL) when using point of care information systems (POCIS) can inform educational providers of the usefulness of the system for continuing medical education (CME). Sen’s capability approach can offer a unique perspective to understand SDL, which considers the extent to which individual valued learning needs can be achieved. The aim of the study was to pilot the use of a questionnaire informed by the capability approach for understanding SDL when using POCIS in the context of CME. Methods A semi-structured questionnaire aligned to the capability approach (Capability Approach for SDL with POCIS Questionnaire - CA-SPQ) in the context of CME was developed and implemented with 200 users of a POCIS (BMJ Best Practice). Results The response rate was 92 and 78% of users considered that their valued outcomes were achieved and that they could apply their new learning to practice. The questionnaire had high content, face, and construct validity. Conclusion The CA-SPQ can offer a practical instrument to provide data and useful information for understanding SDL, when using POCIS in the context of CME. It also has the potential for adaptation to other areas of medical education.
Emergency subtotal colectomy rates in relation to anti-TNF therapy in inflammatory bowel disease patients: comparison of retrospective cohorts

Abstract Objectives The introduction of anti-TNF therapy has revolutionized the management of inflammatory bowel disease (IBD). This study aimed to investigate the impact of anti-TNF therapy on emergency subtotal colectomy rates in patients with IBD (ulcerative colitis, Crohn’s disease or indeterminate colitis) during two time periods. Methods IBD patients treated with emergency subtotal colectomy for acute severe colitis at Skåne University Hospital, Sweden, during two six-year windows were included. The two time-windows represented pre- and introductory (2004–2009) versus post-introductory (2012–2017) anti-TNF therapy usage. The two periods were compared in terms of the proportion of patients who received anti-TNF therapy, rates of emergency subtotal colectomy, and local IBD prevalence numbers. Results In total 91 patients were included, 42 (2004–2009) and 49 (2012–2017) patients, respectively. The proportion of patients that received anti-TNF therapy prior to admission was increased from 29% (2004–2009) to 63% (2012–2017) (p = .001). Despite this no significant difference was found in the emergency subtotal colectomy rates between the time periods considering the population at risk (IBD patients living in Skåne county); 1.44/1000 person years versus 1.37/1000 person years (p = .83). Conclusion Despite an increased proportion of patients with IBD that received anti-TNF therapy prior to admission, no significant decrease in emergency subtotal colectomy rates was noted. Further research is warranted, and a prospective study design would facilitate a better causal understanding.
Bauxite Mining and Alumina Reﬁning Process Description and Occupational Health Risks

Objective: To describe bauxite mining and alumina reﬁning processes and to outline the relevant physical, chemical, biological, ergonomic, and psychosocial health risks. Methods: Review article. Results: The most impor- tant risks relate to noise, ergonomics, trauma, and caustic soda splashes of the skin/eyes. Other risks of note relate to fatigue, heat, and solar ultraviolet and for some operations tropical diseases, venomous/dangerous animals, and remote locations. Exposuresto bauxite dust,alumina dust,and caustic mist in contemporary best-practice bauxite mining and alumina reﬁning operations have not been demonstrated to be associated with clinically signiﬁcant decre- ments in lung function. Exposures to bauxite dust and alumina dust at such operations are also not associated with the incidence of cancer. Conclusions: A range of occupational health risks in bauxite mining and alumina reﬁning require the maintenance of effective control measures. the use of emergency shower water. Diphoterine R (cid:2) is a commercially available amphoteric, hypertonic, chelating solu- tion used to decontaminate and irrigate chemical splashes. Among employees who applied Diphoterine R (cid:2) ﬁrst, there were no signs of a chemical burn in 52.9% of cases and blisters or more severe signs in only 7.9% of cases. These results were signiﬁcantly different from those for employees who applied water ﬁrst, with no signs of a chem- ical burn in only 21.4% of cases and blisters or more severe signs in 23.8% of cases ( P < 0.001). Employees are typically issued with a personal aerosol can of Diphoterine R (cid:2) to be worn on their belt in the operational areas of reﬁneries. Some reﬁneries have also deployed Diphoterine R (cid:2) for emergency eye wash/irrigation.
Late Holocene dietary and cultural variability on the Xingu River, Amazon Basin: A stable isotopic approach

Although once considered a ‘counterfeit paradise’, the Amazon Basin is now a region of increasing interest in discussions of pre-colonial tropical land-use and social complexity. Archaeobotany, archaeozoology, remote sensing and palaeoecology have revealed that, by the Late Holocene, populations in different parts of the Amazon Basin were using various domesticated plants, modifying soils, building earthworks, and even forming ‘Garden Cities’ along the Amazon River and its tributaries. However, there remains a relatively limited understanding as to how diets, environmental management, and social structures varied across this vast area. Here, we apply stable isotope analysis to human remains (n = 4 for collagen, n = 17 for tooth enamel), and associated fauna (n = 61 for collagen, n = 28 for tooth enamel), to directly determine the diets of populations living in the Volta Grande do Rio Xingu, an important region of pre-Columbian cultural interactions, between 390 cal. years BC and 1,675 cal. years AD. Our results highlight an ongoing dietary focus on C3 plants and wild terrestrial fauna and aquatic resources across sites and time periods, with varying integration of C4 plants (i.e. maize). We argue that, when compared to other datasets now available from elsewhere in the Amazon Basin, our study highlights the development of regional adaptations to local watercourses and forest types.
The role of intraoral scanners in the shade matching process: a systematic review.

PURPOSE The variation in findings with regards to accuracy and precision of intraoral scanners for shade selection are no doubt confusing for clinicians who may find it difficult to make evidence-based decisions. The aim of this systematic review is to provide a comprehensive and in-depth assessment of available studies to determine the viability of using intraoral scanners for the purpose of shade matching. The PICO guided research question is as follows: when shade matching, are intraoral scanners as valid as visual or other digital shade measuring devices in determining tooth colors. METHODS Electronic databases including PubMed/MEDLINE, SCOPUS, EBSCO, Cochrane, and ProQuest were systematically searched for articles published between January 1, 2011 and December 30, 2021 using the main search terms: "intraoral scanners", "scanners", "TRIOS", "CEREC", "Planmeca", "Medit", "digital dentistry" in concurrence with one of the following keywords: "EasyShade" OR "shade selection" OR "shade matching" OR "shade" OR "tooth color" OR "tooth shade" OR "digital shade matching". Bibliographies of included articles and the following journals were searched for relevant articles: Journal of Prosthetic Dentistry, Journal of Prosthodontics, Journal of Esthetic and Restorative Dentistry, Journal of Advanced Prosthodontics and Journal of Dentistry. A total of 15 articles were included in the review. RESULTS Intraoral scanners are highly repeatable for shade matching, and outperformed visual shade matching. Accuracy varied significantly between studies, with the majority recommending the use of visual shade matching to confirm/verify the intraoral scanner results. Setting intraoral scanners to the Vita 3D Master shade guide improved both accuracy and precision. Shade matching with intraoral scanners may be influenced by external factors such as ambient light sources and incorrect use or manipulation. CONCLUSION Intraoral scanners set to the Vita 3D Master shade guide may be used for shade matching, but shade should be verified with visual shade matching. Further studies are required to address limitations of current studies. This article is protected by copyright. All rights reserved.
Phosphorylated tau sites that are elevated in Alzheimer's disease fluid biomarkers are visualized in early neurofibrillary tangle maturity levels in the post mortem brain

Alzheimer's disease (AD) biomarkers are increasingly more reliable in predicting neuropathology. To facilitate interpretation of phosphorylated tau sites as an early fluid biomarker, we sought to characterize which neurofibrillary tangle maturity levels (pretangle, intermediary 1, mature tangle, intermediary 2, and ghost tangle) are recognized.
Chest multidetector computed tomography imaging of COVID-19 pneumonia patients with hematologic malignancies

Background Data on the association between coronavirus disease 2019 (COVID-19) and the epidemiology and outcomes of hematological malignancies are limited. Hence, the present study aimed to assess the imaging findings using chest multidetector computed tomography (MDCT) in patients with hematologic malignancies who developed COVID-19 pneumonia. Methods This retrospective study included two groups, the first group consisted of COVID-19 infected patients with hematologic malignancies (100 patients), while the second group consisted of COVID-19 infected patients without hematologic malignancies or other comorbidities (100 patients). The hematological malignancies included in this study were non-Hodgkin’s lymphoma (40 patients), acute myeloid leukemia (25 patients), chronic lymphocytic leukemia (15 patients), multiple myeloma (10 patients), Hodgkin’s lymphoma (8 patients), and myelodysplastic syndrome (2 patients). Chest multidetector CT imaging was performed in all patients to assess for ground-glass opacity, consolidation, pleural effusion, and airway abnormalities. Results More than one CT finding was reported in each patient. No significant difference was observed in the ground-glass opacities (P=0.0594), nodule formation (P=0.2278), or airway thickening/dilatation (P=0.0566) between the two groups; meanwhile, a significant difference was observed in the degree of consolidation, the number of lobes affected, and pleural effusion (P=0.0001) as well as in the total lung severity (P=0.0001); minimal, mild, and severe affection rates; and (P=0.0047) moderate affection rates. Conclusion Early and reliable diagnosis of lung disease in COVID-19-infected patients may be achieved through multidetector CT imaging. Patients with hematological malignancies are more likely to have severe COVID-19 pneumonia, and radiologists should recognize the CT characteristics of this infection.
Clinically unrecognized plasma volume expansion predicts long‐term all‐cause‐mortality in chronic heart failure

Chronic heart failure (CHF) is associated with elevated total blood volume (BV) and distinct phenotypes of total red cell volume (RCV) and plasma volume (PV) elevations. Especially PV expansion during clinical decompensation is linked with adverse clinical outcomes. The role of PV expansion in compensated CHF patients is less clear. Aim of the present study is to investigate the impact of BV parameters on long‐term mortality in CHF patients investigated at a compensated state.