bluuebunny/crossref_metadata_2025_split huggingface dataset:
SCN1A pathogenic variants do not have a distinctive blood‐derived DNA methylation signature
Authors: LaFlamme Christy W. , Karimi Karim , Rastin Cassandra , Almanza Fuerte Edith P. , Allan Talia , Russ‐Hall Sophie J. , Schneider Amy L. , Stobo Daniel , Lesca Gaetan , Symonds Joseph D. , Brunklaus Andreas , Sadleir Lynette G. , Scheffer Ingrid E. , Sadikovic Bekim , Mefford Heather C. 
Published: February 2025

AbstractDNA methylation signatures (“episignatures”) can be used as biomarkers of genetic aberrations, clinical phenotypes, and environmental exposures in rare diseases. Episignatures are utilized in molecular diagnostics and can clarify variants of uncertain significance. A growing number of disease genes, including epilepsy genes, exhibit robust and reproducible episignatures. However, whether SCN1A, the most prominent epilepsy gene, has one or more episignatures has not yet been determined. We generated genome‐wide DNA methylation data and performed episignature analysis on 64 individuals with Dravet syndrome due to pathogenic loss‐of‐function (LOF) variants in SCN1A and seven individuals with early infantile SCN1A developmental and epileptic encephalopathy due to pathogenic gain‐of‐function (GOF) variants in SCN1A, relative to a large reference database of controls and rare disease episignature‐positive cohorts. We analyzed all samples with LOF variants together and performed separate analyses for missense, nonsense, and GOF variant cohorts. A reproducible blood‐derived episignature was not evident in any of the cohorts using current analytical approaches and reference data.
Post‐colonoscopy colorectal cancer in the Western Australian population: analysis of patient, histopathological and molecular characteristics
Authors: Harma Claire L. , Jayawardena Thisuri , Ismail Ali G. M. , Lall Vidit , Kumarasinghe Priyanthi , De Boer Bastiaan , Hemmings Christine , Amanuel Benhur , Kelty Erin , Mirzai Bob , Guo Belinda B. , Allcock Richard , Salama Muna , Raftopoulos Spiro , Yusoff Ian , Segarajasingam Dev , Erber Wendy N. , Ee Hooi 
Published: February 2025

AbstractBackgroundPost‐colonoscopy colorectal cancer (PCCRC), defined as colorectal cancer (CRC) detected after a cancer‐negative colonoscopy, represents a key quality indicator for CRC detection and prevention. While most PCCRC is attributed to missed lesions, few studies examine pathologic and molecular characteristics of PCCRC to assess for possible de novo cancer formation causing PCCRC.AimThe aim of this study was to identify cases of PCCRC where prior colonoscopy was adequate (A‐PCCRC) versus inadequate (I‐PCCRC) and compare both subtypes with spontaneous CRC (sCRC) in terms of patient factors, histopathology and molecular characteristics.MethodsThis was a 12‐year retrospective population‐based study using a data set from the Western Australian Cancer Registry between 2000 and 2011. A‐PCCRCs were identified by excluding lesions likely missed due to procedural factors or incomplete prior resection at index colonoscopy performed within 3–36 months of cancer diagnosis. Histopathological review and next‐generation sequencing were conducted on subsets of patients with A‐PCCRC and sCRC. Statistical analysis included univariable and multivariable regression models and chi‐squared and Wilcoxon rank sum tests.ResultsA total of 524 (3.81%) cases of PCCRC were identified out of 13 757 cases of CRC; 272 were A‐PCCRC (1.98%) and 252 I‐PCCRC (1.83%). Female sex, older age and proximal location were associated with A‐PCCRC. Mutations in the PIK3CA gene were less common in A‐PCCRC compared to sCRC.ConclusionA significant percentage of PCCRC occurred despite adequate prior colonoscopy. Missed sessile serrated lesions may contribute to many of these cases; however, further studies are required to examine possible de novo cancer as a cause of PCCRC that may involve unique biological pathways.
Quality of Vertical Bitewings Radiographs and Common Errors of Positioning in Children
Authors: Olegário Isabel C. , Leith Rona , O'Connell Anne C. 
Published: February 2025

ABSTRACTBackgroundVertical bitewing radiographs (VBWs) are often used in paediatric dentistry but no clinical studies have been conducted to evaluate the feasibility or effectiveness of their use.Hypothesis/AimTo evaluate the quality of VBWs taken in children by undergraduate dental students.DesignVBWs were taken for high‐caries‐risk children using two types of vertical holders: Snap‐A‐Ray and Red Rinn XCP. Trained and calibrated examiners assessed VBW quality including positioning errors, visibility of crown and furcation area of primary molars and presence of permanent successor. Association between VBW quality scores and independent variables was investigated using ordinal logistic regression (α = 5%).ResultsA total of 150 VBWs were evaluated. Radiographs were rated as excellent (10.67%), diagnostically acceptable (72%) and diagnostically compromised (17.33%). VBWs allowed the visualisation of the entire primary molar crown (80.55%), furcation (90.54%) and permanent successors (86.37%).Common positioning errors included horizontal errors (48.67%) and coning off (38.67%). Use of the Red Rinn XCP holder was significantly associated with improved VBW quality compared to Snap‐A‐Ray (p = 0.045).ConclusionsThe use of vertical bitewings allowed visualisation of the primary molars crown, furcation area and presence of permanent successors. The use of a Red Rinn vertical holder can improve the quality of the bitewing radiographs by avoiding positioning errors.
Single or dual rollover? The product rollover strategy of an electric vehicle manufacturer with strategic consumers
Authors: Tong Yang , Xiao Tiaojun , Ning Yu , Xu Songhe 
Published: February 2025

AbstractAlthough it has been widely acknowledged that the positive effect of consumer subsidy on the development of the electric vehicle industry, its effect on product rollover strategy remains unknown. To address this issue, a two‐period model is conducted to determine the manufacturer's product rollover strategy choice between a single rollover (in which companies cease the production of the old version when launching a new upgraded version of a product) and a dual rollover (in which companies continue offering it at a discounted price), considering the consumer subsidy scheme and consumers’ strategic behavior. Our results show that in the low‐level innovation case, the manufacturer will benefit more from the single rollover strategy if the subsidy level of the old version is large but the subsidy level of the new version is small; when the old version's subsidy is small or the subsidy levels of the two versions are large, the manufacturer benefits more from the dual rollover strategy. In the high‐level innovation case, the manufacturer prefers the single rollover strategy if and only if the subsidy levels of the two versions are relatively large. Although the manufacturer can benefit from the single rollover strategy through consumer subsidy, it may increase the negative environmental impact and further, decrease social welfare. In addition, compared with the monopolistic setting, we find that the manufacturer becomes more willing to implement a single rollover in the competitive setting. Finally, the manufacturer is more likely to implement the single rollover strategy when more consumers are strategic.
Understanding interfacial bonding properties and mechanical properties of in situ synthesis of Cf/ZrB2–ZrC–SiC composite
Authors: Liu Yingjun , Fu Yuanzhe , Zu Yufei , Zhang Yang , Dong Hongfeng , Li Wenhu , Ai Taotao , Sha Jianjun 
Published: February 2025

AbstractThe relationship between the interfacial bonding properties and the mechanical properties of carbon fiber reinforced ZrB2–ZrC–SiC composites (Cf/ZrB2–ZrC–SiC) is currently under investigation. In this study, Cf/ZrB2–ZrC–SiC composites with varying fiber–matrix interfacial bonding properties were prepared using slurry infiltration and in‐situ reactive hot pressing. Polydopamine‐derived carbon with different thicknesses was employed as the interphase to create various interfacial bonding properties, where interfacial bonding properties were evaluated using the single‐fiber push‐out method. Results indicated that a uniform and dense ZrB2–ZrC–SiC matrix was constructed, and low‐porosity composites without fiber degradation were obtained. For composites with a higher interfacial shear strength (ISS) of 342 MPa, flexural strength and fracture toughness were 209 MPa and 7.5 MPa·m1/2, respectively. For composites with a lower ISS of 64 MPa, flexural strength and fracture toughness increased by 41% and 13%, with showing non‐brittle behavior and work of fracture up to 10 kJ·m2. By combining analyses of thermal expansion behavior, residual thermal stresses, and thermal shock properties at ultrahigh temperatures, thermal mismatch and thermal damage can be minimized through the modulation of ISS. This approach is beneficial for optimizing the mechanical properties of fiber‐reinforced ceramic composites.
Co‐Designing a Toolkit of Approaches and Resources for End‐of‐Life Care Planning With People With Intellectual Disabilities Within Adult Social Care Settings: A Multi‐Phase Study
Authors: Tuffrey‐Wijne Irene , Bruun Andrea , Tilley Elizabeth , Giles Jo , Gibson Sarah , Cresswell Amanda , Keagan‐Bull Richard , Jordan Leon , Allen Gemma , Swindells Sarah , Payne Nicola , Hughes Rhidian , Anderson‐Kittow Rebecca 
Published: February 2025

ABSTRACTBackgroundPeople with intellectual disabilities are rarely involved in end‐of‐life decisions. This study investigated and further developed approaches and resources to enable inclusive end‐of‐life care planning.MethodsA multi‐centre, multi‐method four‐phase study, involving 195 researchers, participants, advisors and co‐design members, including 36 people with intellectual disabilities: (i) evidence review; (ii) stakeholder focus groups; (iii) Experience‐Based Co‐Design and (iv) testing of co‐designed resources.ResultsThere was little empirical evidence regarding the efficacy of existing resources. Focus group participants signalled overwhelming support for inclusive end‐of‐life care planning but notable variance around where/what/when/who/how. The co‐design group developed a toolkit of existing and new resources. Feedback from toolkit testers was positive but barriers to staff engagement through the testing period were noted.ConclusionsFlexible, creative and interactive approaches that open up conversations are the building blocks for inclusive end‐of‐life care planning. Barriers include lack of staff confidence, time and resources and a death avoidance culture.
Catheter Ablation for Atrial Fibrillation in Octogenarians—Outcome and Impact for Future Same Day Discharge Strategies
Authors: Wahedi Rahin , Willems Stephan , Jularic Mario , Hartmann Jens , Anwar Omar , Dickow Jannis , Harloff Tim , Bengel Philipp , Wohlmuth Peter , Metzner Andreas , Gessler Nele , Gunawardene Melanie A. 
Published: February 2025

ABSTRACTBackgroundCatheter ablation (CA) for atrial fibrillation (AF) in the elderly poses a growing challenge. Outcome data regarding CA in these patients are scarce.MethodsOctogenarians with AF or consecutive atrial tachycardia undergoing index or re‐ablation (pulmonary vein isolation [PVI] and ablation beyond PVI with different energy sources) in a single center, were analyzed. Study endpoints were efficacy as well as procedural safety. Secondary endpoints included periprocedural complications and predictors for prolonged hospital stay.ResultsIn total, 301 patients (82.1 ± 1.9 years, paroxysmal AF n = 94 [31.2%], CHA2DS2‐VASc‐Score 4.2 ± 1.2) undergoing index ablation (n = 172/301, 57.1% [PVI only n = 156/172, radiofrequency n = 92, cryoballoon n = 59, pulsed‐field ablation n = 5]) and re‐ablation (n = 129/301 [42.9%]) were included. Arrhythmia‐free survival at 1 year was 72.6%. Complication rates were low (groin site n = 2/301 [0.7%], tamponade n = 2/301 [0.7%] and stroke n = 1/301 [0.3%]). However concomitant infections (pneumonia n = 5/301 [1.7%], urinary‐tract‐infections n = 4/301, [1.3%]) and pacemaker‐implantation n = 6/301 (2%) occurred more commonly. Hospital stay after CA was 2.3 ± 2 nights. Predictors for prolonged hospitalization were complications (odds ratio: 3.1), infections (odds ratio: 2.1), female sex (odds ratio: 1.15) and frailty assessed by Barthel index (odds ratio: 1.02).ConclusionsCA for AF in octogenarians shows low procedural complications and reasonable efficacy. However, concomitant infections and pacemaker implantations occur in this cohort. Due to prolonged hospitalization after CA, especially in female and frail octogenarians, same‐day discharge may not be suitable for this specific patient cohort.
Rehabilitation Strategies and Occlusal Vertical Dimension Considerations in the Management of Worn Dentitions: Consensus Statement From SSRD, SEPES, and PROSEC Conference on Minimally Invasive Restorations
Authors: Ioannidis Alexis , Pitta João , Panadero Rubén Agustín , Chantler Jennifer G. M. , Villar Sandra Fernández , Fonseca Manrique , Lozano Jaime Gil , Hämmerle Christoph H. F. , Hey Jeremias , Karasan Duygu , Kraljevic Iris , Mainjot Amélie , Pachiou Aspasia , Rutten Patrick , von Stein‐Lausnitz Manja , Strasding Malin , Zaugg Lucia K. 
Published: February 2025

ABSTRACTObjectiveThe Joint SSRD, SEPES, and PROSEC Consensus Conference aimed to provide clinical statements and recommendations for the rehabilitation of worn dentition and to evaluate the necessity of an evaluation phase when increasing the occlusal vertical dimension (OVD) during full‐mouth rehabilitation.Materials and MethodsTwo systematic reviews were conducted before the conference. The findings of the reviews were analyzed, discussed in working group 2, and debated in plenary sessions until a consensus was reached. Consensus statements were formulated based on available evidence and expert opinion.ResultsBoth direct and indirect minimally invasive approaches, utilizing materials such as composite resins and lithium disilicate ceramics, were deemed viable for managing worn dentitions. The choice of approach and material should depend on the extent of tooth substance loss and the treatment goals. Evidence on the necessity of an evaluation phase was inconclusive. However, an evaluation phase can aid in managing patient expectations, refining treatment sequencing, and supporting less experienced clinicians. Emphasis was placed on non‐invasive and minimally invasive techniques, adequate diagnostics, and the potential benefits of fixed interim restorations when evaluating increased OVD.ConclusionsThe consensus statements provide a framework for managing worn dentitions and decisions regarding OVD increases, emphasizing minimally invasive approaches and individualized treatment planning. However, gaps in evidence remain, particularly regarding the long‐term effectiveness of materials and the evaluation phase. Future research is required to address these uncertainties, focusing on long‐term outcomes, material comparisons, and patient‐reported outcomes.
Proprioceptive Training Induced Adaptations of Static Balance Control: An RCT Study in Adults With Intellectual Disability
Authors: Rallis Konstantinos , Konstantinidou Elisavet , Hatzitaki Vassilia , Mavrommatis Georgios , Fotiadou Eleni 
Published: February 2025

ABSTRACTBackgroundAdults with intellectual disability (ID) experience injurious falls that may affect their quality of life. The present randomised control trial (RCT) study examined the efficacy of a 10‐week proprioceptive training programme, on static balance performance, in adults with mild to moderate ID.MethodsParticipants were voluntarily recruited from a day care centre and randomly assigned into the intervention (IG; n = 14; 36.4 ± 3.8 years; males/females = 8/6) and the control group (CG; n = 13; 37.6 ± 4.8 years; males/females = 7/6). The IG trained three times per week with the proprioceptive training programme, whereas both groups followed the regular adapted physical activity programme of the day care centre. Static balance was assessed before and after the intervention with three static balance tests [bipedal stance (60″), Tandem Romberg stance (30″) and single leg stance (15″)] performed on a force platform, whereas the Mini‐BESTest was also used to assess aspects of static and dynamic balance in the field.ResultsThe IG significantly improved (p < 0.05) test scores of the Mini‐BESTest and decreased the range and the root mean square of the centre of pressure displacement during the bipedal, Tandem Romberg and single leg stance, in contrast to the CG who showed no improvement.ConclusionThe specific proprioceptive training programme improved the static balance of adults with ID and this could have a positive, significant impact in their daily life, as it may reduce the incidence of falls and relative injuries.
Examining the Relation Between Sleep Problems and Behavioural Challenges in Youth With Down Syndrome
Authors: Soltani Amanallah , Wiley Susan , Williams‐Arya Pamela , Hoffman Emily K. , Esbensen Anna J. 
Published: February 2025

ABSTRACTBackgroundThe connection between sleep problems and behavioural challenges in individuals with Down syndrome (DS) has been a central focus of research across different age groups. However, uncertainty remains regarding this association, particularly when relying solely on daily‐based assessments. This study aimed to examine the relationship between sleep problems and behavioural challenges at both overall (macro) and daily (micro) levels among youth with DS.MethodsSleep disturbances were measured in a sample of 65 youth with DS aged 6–17 years using the Children's Sleep Habits Questionnaire (CSHQ) and actigraph watches assessing sleep efficiency, sleep duration and wake after sleep onset. Behavioural challenges were evaluated through externalising and internalising subscales of the Child Behavior Checklist (CBCL) and of the Scales of Independent Behavior, Revised (SIB‐R).ResultsThe findings demonstrated that over a period of time, sleep problems are significantly associated with both externalising and internalising behaviours as measured by CSHQ and CBCL, even after accounting for the effects of IQ and SIB‐R Broad Independence. No significant correlations were observed on a daily basis over seven consecutive days, as measured by actigraphy and both externalising and internalising indices of SIB‐R.ConclusionsThe results highlight the complexity of the sleep–behaviour relationship in DS, indicating that while chronic sleep issues impact long‐term behaviours, nightly variations do not predict immediate behavioural changes.
Eye Tracking as a Tool for Detecting Alzheimer's Disease in People With Down Syndrome
Authors: Piro‐Gambetti Brianna , Krinsky‐McHale Sharon , Kovacs Cynthia , Handen Benjamin , Christian Bradley , Laymon Charles M. , Minhas Davneet , Luo Weiquan , Yoon Dasoo Milton , Fleming Victoria L. , Schworer Emily , Kirkorian Heather , Hartley Sigan L. ,   Alzheimer Biomarkers Consortium‐Down Syndrome
Published: February 2025

ABSTRACTBackgroundAdults with Down syndrome (DS) experience an increased risk of Alzheimer's disease (AD). Valid cognitive assessments for adults with DS with severe/profound intellectual disability (ID) are needed. It is unclear whether eye tracking is feasible for detecting AD in DS.MethodFifty‐three adults with DS completed a visual paired comparison (VPC) task, a battery of cognitive measures, and underwent PET scanning. Study partners reported on the participant's dementia symptoms. Bivariate correlations assessed associations between eye‐tracking metrics and AD‐related pathology and symptomatology. Analyses included the full sample (n = 53) and a subgroup with an IQ ≤ 45 (n = 33).ResultsGreater fixation duration during the habituation phase was associated with better cognitive performance on the Modified Cued Recall Test (mCRT) (intrusions: r = −0.39, p = 0.011) and less PET tau (r = −0.47, p = 0.014). Larger saccadic amplitudes during the test phase were associated with younger age (r = −0.45, p < 0.001), better cognitive performance on the mCRT (total: r = 0.31, p = 0.041; intrusions: r = −0.33, p = 0.032) and less PET Aβ (r = −0.40, p = 0.025). Greater preference to fixate on the novel image was associated with fewer dementia symptoms (count: r = −0.44, p = 0.002; duration: r = −0.38, p = 0.009). This pattern of significance remained for the subgroup with lower IQ scores.ConclusionThe VPC task is a potentially useful method for assessing AD‐related cognitive impairments in adults with DS across varying ID levels.
Primary hepatic neuroendocrine neoplasms of children, a systematic review
Authors: Samady Khanghah Ali , Madadi‐Sanjani Omid , Abdolzadeh Anahita , Atqiaee Khashayar 
Published: February 2025

AbstractThe term “carcinoid tumour” is no longer used and has given up its place to neuroendocrine neoplasms (NENs). Primary hepatic neuroendocrine neoplasms (PHNENs) are as rare as compromising 0.4% of all neuroendocrine neoplasms (NENs). Searching the central medical databases of PubMed/Medline, Web of Science, Scopus, Google Scholar, and the references of the articles, we have collected 10 cases of pediatric PHNENs of children. The inclusion criteria were full‐text available literature in English and those under and equal to 19 years old. Diseases found during autopsy, carcinoma, and isolated gall bladder involvement also made the exclusion criteria. The mean age of the patients was 13.86 years, ranging from 8 to 19 years. Six female patients (55%) were in front of 5 males (45%). The right lobe was the most frequent site of involvement and surgery in four cases. Abdominal pain comprised the main symptom, and CT scans of most of them were common which helped in diagnosis. While a hepatic tumour is considered NEN, a detailed systemic evaluation of a primary tumour is mandatory to exclude metastatic HNEN. Secondary hepatic NENs are more common than primary ones. Surgical resection has had the most long‐term success.
Development and Evolution of Slacks‐Based Measure Models in Data Envelopment Analysis: A Comprehensive Review of the Literature
Authors: Emrouznejad Ali , Brzezicki Łukasz , Lu Chxiao 
Published: February 2025

ABSTRACTThis paper provides a comprehensive review of slacks‐based measure (SBM) models within the nonparametric data envelopment analysis (DEA) framework. The review reveals that the development and modifications of SBM models have progressed in multiple directions. Key areas of modification include (1) the nature of inputs and outputs, (2) data specificity, (3) super‐efficiency for ranking decision‐making units, (4) the inclusion of networks in organizational structures or production processes, (5) the dynamic nature of the analysis, and (6) various other methodological aspects. Increasingly, complex SBM models addressing multiple aspects, such as input/output characteristics and data specificity, are appearing in the literature. Another notable trend is the integration of various methodological proposals from different authors into unified SBM models. Some publications even attempt to forecast future efficiency levels and incorporate large datasets (big data). Despite numerous modifications and advancements, SBM models still lack robust statistical inference capabilities, unlike radial models, which possess more developed statistical foundations.