bluuebunny/crossref_metadata_2025_split huggingface dataset:
The evolution of gene‐guided management of inherited arrhythmia syndromes: Peering beyond monogenic paradigms towards comprehensive genomic risk scores
Authors: Rowe Matthew K. , Roberts Jason D. 
Published: February 2020

AbstractInherited arrhythmia syndromes have traditionally been viewed as monogenic forms of disease whose pathophysiology is driven by a single highly penetrant rare genetic variant. Although an accurate depiction of a proportion of genetic variants, the variable penetrance frequently noted in genotype positive families and the presence of sporadic genotype negative cases have long highlighted a more nuanced truth being operative. Coupled with our more recent recognition that many rare variants implicated in inherited arrhythmia syndromes possess unexpectedly high allele frequencies within the general population, these observations have contributed to the realization that a spectrum of pathogenicity exists among clinically relevant genetic variants. Notably, variable mutation pathogenicity and corresponding variable degrees of penetrance emphasize a limitation of contemporary guidelines, which attempt to dichotomize genetic variants as pathogenic or benign. Recognition of the existence of low and intermediate penetrant variants insufficient to be causative for disease in isolation has served to emphasize the importance of additional genetic, clinical, and environmental factors in the pathogenesis of rare inherited arrhythmia syndromes. Despite being rare, it has also become increasingly evident that common genetic variants play critical roles in both heritable channelopathies and cardiomyopathies and in aggregate may even be the primary drivers in certain instances, such as genotype negative Brugada syndrome. Our growing realization that the genetic substrates of inherited arrhythmia syndromes have intricacies that extend beyond traditionally perceived monogenic paradigms has highlighted a potential value of leveraging more comprehensive genomic risk scores for predicting disease development and arrhythmic risk.
A comparative study of pericardial effusion and pleural effusion after cryoballoon ablation or radiofrequency catheter ablation of atrial fibrillation
Authors: Xiao Fang Yi , Ju Wei Zhu , Chen Hong Wu , Huang Wei Jian , Chen Minglong 
Published: February 2020

AbstractIntroductionThe incidence and clinical outcome of pericardial and pleural effusion after cryoballoon ablation (CBA) or radiofrequency catheter ablation (RFCA) of atrial fibrillation (AF) have not been fully investigated.MethodsA total of 60 patients with paroxysmal AF were treated with either CBA (n = 30) or RFCA (n = 30) groups, with assessment of serum troponin I level, left atrial pulmonary vein computed tomography (CT) angiography and echocardiography within 24 hours before ablation, and serum troponin I level at 12 hours, and chest CT and echocardiography within 24 hours postablation. Repeat chest CT was performed 1 month after the index procedure in patients with pericardial or pleural effusion.ResultsWith similarly distributed baseline characteristics, the CBA group relative to the RFCA group had postablation: higher serum troponin I level (13.48 vs 1.84 µg/L, P < .001); similarly high pericardial effusion rates on chest CT (80% vs 93.3%, P > .05), with chest CT yielding significantly higher detection rate than echocardiography; similarly high pleural effusion rates on chest CT (73.3% vs 80%, P > .05); and smaller maximum depths on chest CT cross‐section of pericardial effusion (5.21 ± 3.37 vs 7.13 ± 2.68 mm, P < .05) and pleural effusion bilaterally (left: 4.16 ± 4.90 vs 6.96 ± 5.42 mm; right: 5.04 ± 4.46 vs 7.55 ± 4.95 mm, both P < .05). The effusions self‐resolved within a mean period of 1 month.ConclusionsBoth CBA and RFCA were associated with high rates of pericardial and pleural effusion, with RFCA yielding numerically higher incidence and significantly higher effusion extent, and chest CT significantly higher detection rates than echocardiography.
Developing and applying a costing tool for hypertension and related cardiovascular disease: Attributable costs to salt/sodium consumption
Authors: Nilson Eduardo Augusto Fernandes , da Silva Everton N. , Jaime Patrícia C. 
Published: February 2020

AbstractThis paper proposes a costing tool for hypertension and cardiovascular disease by adapting cost‐of‐illness methodologies to estimate the attributable burden of excessive salt intake on cardiovascular disease. The methodology estimates the changes in blood pressure that result from each gram change in salt intake and links diet to the direct and indirect costs of cardiovascular diseases (CVD), such as coronary heart disease, stroke, hypertensive disease, aortic aneurysm, heart failure, pulmonary embolism, and rheumatic heart, using the relative risks of disease and the prevalence of salt consumption in the population. The methodology includes (a) identifying major diseases and conditions related to excessive salt intake and relevant economic cost data available, (b) quantifying the relationship between the prevalence of excessive salt intake and the associated risk of disease morbidity and mortality using population attributable risks (PAR), (c) using PARs to estimate the share of total costs directly attributed to excessive salt intake, and (d) undertaking a sensitivity analysis of key epidemiological and economic parameters. The costing tool has estimated that, in 2013, US$ 102.0 million (95% uncertainty interval—UI: US$ 96.2‐107.8 million) in public hospitalizations could be saved if the average salt intake of Brazilians were reduced to 5 g/d, corresponding to 9.4% (95% UI: 8.9%‐9.9%) of the total hospital costs by CVDs. This methodology of cost of illness associated with salt consumption can be adapted to estimate the burden of other dietary risk factors and support prevention and control policies in Brazil and in other countries.
Association between the methylation of theSTAT1andSOCS3in peripheral blood and gastric cancer
Authors: Han Qian , Zhou Haibo , Xie Wenzhen , Sun Tong , Wei Rongrong , Nie Chuang , Hong Jia , Zhu Lin , Tian Wenjing 
Published: February 2020

AbstractBackground and AimDNA methylation is an important epigenetic modification that can promote the development of various cancers. TheSTAT1andSOCS3have been observed to be hypermethylated in tumor tissues and peripheral blood. This study aimed to explore the relationship between the methylation status of theSTAT1andSOCS3in peripheral blood and gastric cancer (GC).MethodsThis hospital‐based case‐control study involved 372 patients with GC and 379 controls. The methylation status of theSTAT1andSOCS3was semiquantitatively determined using the methylation‐sensitive high‐resolution melting method. Logistic regression analysis was used to analyze the relationship between theSTAT1andSOCS3methylation status and GC susceptibility. Moreover, propensity scores were used to control confounding factors.ResultsCompared with negative methylation, the positive methylation ofSOCS3significantly increased the risk of GC (ORa = 1.820, 95% CI: 1.247–2.658,P = 0.002). This trend was also found via stratified analysis, and methylation positivity of theSOCS3significantly increased the risk of GC in the < 60 years group, in the ≥ 60 years group, and in the positiveHelicobacter pyloriinfection group (ORa = 1.654, 95% CI: 1.029–2.660,P = 0.038; ORa = 1.957, 95% CI: 1.136–3.376,P = 0.016; ORa = 2.084, 95% CI: 1.270–3.422,P = 0.004, respectively). Additionally, no significant association was found betweenSTAT1methylation and GC risk (ORa = 0.646, 95% CI: 0.363–1.147,P = 0.135). This study found that the interaction between the methylation status ofSTAT1andSOCS3and environmental factors did not have an impact on GC risk.ConclusionSOCS3methylation may serve as a new potential biomarker for GC susceptibility.
Internal Resource Allocation and External Alliance Activity of Diversified Firms
Authors: Cabral Joseph J. , Deng Chaoqun , Kumar M. V. Shyam 
Published: February 2020

AbstractPrior research suggests that diversified firms are often unable to match resources to the market needs and opportunities of their divisions due to factors such as influence activities. In this research, we propose that when such internal inefficiencies arise, diversified firms may form alliances to access resources externally to support their divisions in their industries and operations. Using a sample of US firms between 1997 and 2006, we find that, on average, diversified firms form more alliances within industries that they currently operate in when compared to single business firms. The alliancing activity in related industries increases when businesses with diverse growth opportunities exist within the same firm, and it decreases with the intensity of internal control and coordination mechanisms. Our study suggests a link between internal resource allocation processes and external alliancing activity, while highlighting that alliances may play an important role in how diversified firms manage the inefficiencies that arise within their boundaries.
The Epworth sleepiness scale: Reliably unreliable in a sleep clinic population
Authors: Lee Jessica Louise , Chung Yewon , Waters Edward , Vedam Hima 
Published: February 2020

AbstractThe Epworth Sleepiness Scale is used frequently to measure excessive daytime sleepiness in research and clinical settings, although there is limited evidence on test–retest reliability, particularly among sleep clinic populations. The objective of this study was to evaluate the reliability of this instrument among adult patients recruited from a public hospital sleep clinic in Sydney, Australia. English‐speaking participants self‐completed the Epworth Sleepiness Scale on two occasions, at the specialist clinic visit and on the night of diagnostic polysomnography. Of the 108 participants included in the study, the majority were male (64%) and the mean age was 51 years. The median retest interval was 64 days. The primary outcome of test–retest reliability as measured using the intraclass correlation coefficient was 0.73 (95% confidence interval, 0.61–0.82). Despite moderate statistical reliability and a low mean difference of 1.1, Bland‐Altman analysis showed an unacceptably wide distribution of between‐score differences. The 95% limits of agreement were −8.5 to +10.6, and an absolute difference in scores of at least 3 was observed in 60 (56%) of the participants. Our results suggest that the Epworth Sleepiness Scale should not be used in clinical settings to make individual‐level comparisons, such as the effect of therapeutic interventions, or to prioritise access to services.
Dental disease in alpacas. Part 1: Prevalence of dental disorders and their mutual relationships
Authors: Proost Kirsten , Pardon Bart , Pollaris Elke , Flahou Thijs , Vlaminck Lieven 
Published: February 2020

AbstractBackgroundDental disease is a troublesome health concern in alpacas. Specifically, the occurrence of tooth root abscesses has been described in veterinary literature. Nevertheless, no objective prevalence data are available for dental disorders in alpacas.Hypothesis/objectivesTo determine the prevalence of dental disorders in alpaca herds in Belgium and the Netherlands. To study the associations between the different dental disorders encountered in alpacas.AnimalsA total of 228 alpacas (Vicugna pacos) originating from 25 farms.MethodsThis is a cross‐sectional study. Dental disorders were diagnosed by dental examination of sedated animals using a dental mirror or a portable rigid oroscope.ResultsAt the animal level, 82% (n = 187) had dental disorders of which 74.6, 41.7, and 3.9% were cheek teeth, incisor disorders, and canine disorders, respectively. At the level of the cheek teeth, diastemata (43.1%) were most common, followed by wear abnormalities (WA; 39.6%) and periodontal disease (PD; 33.3%). A significant association was detected between the presence of diastemata and PD (odds ratio [OR], 13.1; 95% confidence interval [CI], 6.6‐27.7; P < .001). Pulp exposure was significantly associated with the presence of diastemata (OR, 11.8; 95% CI, 3.8‐51.5; P < .001), PD (OR, 8.2; 95% CI, 3.1‐25.3; P < .001) and WA (OR, 2.9; 95% CI, 1.2‐7.4; P = .002).Conclusion and Clinical ImportanceDental disorders are highly prevalent in alpacas in Belgium and the Netherlands. Several dental disorders in alpacas had significant associations. To prevent the development of advanced stages of dental disease, routine dental examinations are advised to allow early detection and prompt treatment.
Modified Pedicle Subtraction Osteotomy for Osteoporotic Vertebral Compression Fractures
Authors: Kim Sung‐Kyu , Chung Jae‐Yoon , Park Yong‐Jin , Choi Seung‐Won , Seo Hyoung‐Yeon 
Published: February 2020

ObjectiveTo evaluate the cases of osteoporotic compression fracture with kyphotic deformity treated with modified pedicle subtraction osteotomy and analyze the usefulness of this osteotomy.MethodsTwenty patients (nine men, 11 women; mean age, 66.4 years; mean follow‐up duration, 39.6 months) who underwent modified pedicle subtraction osteotomy at our hospital between November 2003 and July 2012 with a minimum follow‐up period of 2 years were included. All cases were injuries induced by a fall incurred while standing or lifting heavy objects without high‐energy trauma. The mean bone mineral density‐dual energy x‐ray absorptiometry (BMD‐DEXA) was 0.673 g/cm2 (0.571–0.740 g/cm2), which was ‐2SD below normal, indicating severe osteoporosis. The indications for surgery included gait disturbance due to severe pain with pseudarthrosis, increased kyphotic angle, and progressive neurological symptoms. We evaluated Japanese Orthopaedic Association scores, Oswestry Disability Index scores, bone union, change in kyphotic angle, estimated blood loss, complications, and the patient's overall clinical satisfaction.ResultsThe collapsed vertebrae were thoracic (T9, 11, 12) in 13 cases and lumbar (L1) in seven cases. The mean pre‐ and post‐operative kyphotic angles were 26.2 ± 9.9 degrees and 8.3 ± 8.1 degrees, showing an 18.3‐degree correction. Plain radiography at the last follow‐up showed a mean angle of 17.9 ± 12.6 degrees, indicating a 9.5‐degree correction loss. The overall correction was 8.2 degrees. Bony union was achieved at the last follow‐up in all cases. Clinical outcomes showed improvement in mean Japanese Orthopaedic Association score from 13.2 to 21.7 and mean Oswestry Disability Index score from 40.3 to 13.6. Overall clinical patient satisfaction showed 12 excellent results, five moderate results, and three poor results. Mean operation time was 4.2 h (range, 4–6 h). The overall mean estimated blood loss (EBL) was 1098 mL (range, 750–1370 mL). The mean hospital stay was 3.6 weeks (range, 2–6 weeks). There was one case of cauda equina syndrome at 2 days postoperatively, and two cases of screw loosening. There were no cases of distal junctional kyphosis, but there were two cases of proximal junctional kyphosis.ConclusionsDespite limited correction of kyphotic angle, our modified pedicle subtraction osteotomy technique resulted in satisfactory outcomes in our patients, who had persistent severe back pain, increased kyphotic angle with pseudarthrosis, and progressive neurologic deficits. Nevertheless, this procedure requires careful follow‐up and strict surgical indications because of the risk of neurological damage and technical problems.
Birthplace of the São Francisco Craton, Brazil: Evidence from 3.60 to 3.64 Ga Gneisses of the Mairi Gneiss Complex
Authors: Oliveira Elson P. , McNaughton Neal J. , Zincone Stefano A. , Talavera Cristina 
Published: February 2020

AbstractRecords of Earth's primitive crust are scarce. Eoarchean (older than 3.6 Ga) banded mafic to felsic gneisses have been discovered in the São Francisco Craton, Brazil, pushing back by over 100 million years the oldest gneisses known to date in South America (3.5 Ga). Zircon U‐Pb data yield rock ages from 3,598 to 3,642 Ma with a few ca. 3.65–3.69 Ga grains suggesting even older rocks in the area. Zircon grains show significantly negative to nearly chondritic initial εHf values and two‐stage model ages from 3.82 to 4.33 Ga, which may indicate the existence of a recycled Hadean to early Eoarchean crust in the region. The felsic gneisses are chemically similar to the low‐pressure Tonalite‐Trondhjemite‐Granodiorite association whereas the mafic gneisses have geochemical signatures that resemble within‐plate basaltic andesite to andesite of Iceland (icelandites). The results are relevant to constrain the composition of Earth's first continental crust.
Kidney function of Japanese children undergoing kidney transplant with preemptive therapy for cytomegalovirus infection
Authors: Gotoh Yoshimitsu , Shishido Seiichiro , Hamasaki Yuko , Watarai Yoshihiko , Hattori Motoshi , Miura Kenichiro , Ishizuka Kiyonobu , Fujita Naoya , Saito Kazuhide , Nakagawa Yuki , Hotta Kiyohiko , Hataya Hiroshi , Hamada Riku , Sato Hiroyuki , Kitayama Hirotsugu , Ishikura Kenji , Honda Masataka , Uemura Osamu 
Published: February 2020

AbstractBackgroundCytomegalovirus (CMV) infection is one of the major factors that affect morbidity and mortality in kidney transplant (KTx) patients. The rate of CMV seropositivity in children before KTx is lower than that in adults; therefore, pediatric KTx patients have a higher risk of CMV infection. In Japanese pediatric KTx patients, preemptive therapy for CMV infection is a main conventional therapy. This study investigated whether this preemptive treatment would affect kidney function at 2 years post‐KTx.MethodsA total of 163 patients, that is approximately half of the Japanese pediatric KTx patients nationwide, were recruited to participate in our study. We compared the values of the sequential estimated glomerular filtration rate (eGFR) at two years post‐KTx and other influencing factors in CMV viremia, CMV disease, and no‐infection groups.ResultsCytomegalovirus infection after KTx occurred in 75 patients (46.0%), 38.7% of whom developed CMV disease. The sequential eGFR values post‐KTx did not differ significantly between the three groups. CMV infection was not significantly correlated with other factors, other infections (including Epstein‐Barr [EB] virus infection), acute rejection (AR), or adverse events. Only prolonged duration of total hospitalization was significantly associated with CMV infection (P = .002). In the multivariate analysis, younger age, CMV infection, and adverse effects were independently significantly related to prolonged total hospitalization.ConclusionPreemptive therapy for CMV infection evidenced by viremia and disease did not significantly influence kidney function in Japanese pediatric KTx patients at two years after the operation.
Morphotypes or distinct species? A multilocus assessment of two East Asian scimitar babblers (Aves, Timaliidae)
Authors: Dai Chuanyin , Dong Feng , Yang Xiaojun 
Published: February 2020

AbstractIn birds, widespread species complexes often exhibit dramatic plumage differences across their distribution, which can give rise to discordance between morphotypes and phylogroups. Accurate identification of species diversity may require an integrated approach in which multilocus genetic data are used for inference and further corroborated by ecological, morphometric or behavioural data. Pomatorhinus gravivox and P. swinhoei, which were formerly considered component races of P. erythrogenys, were recently split using a delimitation system that mainly relied on the quantification of differences in phenotypic traits. We therefore carried out a reassessment of this taxonomic recommendation by conducting phylogenetic and population genetic analyses with multilocus genetic data. A deep mitochondrial split with a Kimura 2‐parameter distance of 0.061 was observed, mainly corresponding to the two morphologically defined species. However, one individual from P. swinhoei harboured a haplotype of P. gravivox. Individual‐based analyses of nuclear loci identified two distinct clusters that were exactly congruent with the two species. BPP delimitation also provided support for the separation. These congruencies support the notion that these two taxa are best regarded as two separate species. The presence of the P. gravivox mitochondrial haplotype in P. swinhoei was most likely a result of hybridization, due to the clear separation of nuclear loci. The speciation might be attributed to paleoclimatic changes but requires further evaluation due to the likelihood of ecological speciation. This study was in accordance with the results inferred from the quantitative system but highlighted the importance of sampling various data, especially in contact zones, in the study of taxonomy and speciation history.
Study of the Influence of Geometric Parameters in an Innovative Scraped Surface Heat Exchanger With Helical Ribbon
Authors: Ali Sirine , Baccar Mounir 
Published: February 2020

Abstract
This work aims to characterize the hydrodynamic and thermal behaviors in an innovative scraped surface heat exchanger (SSHE) equipped with helical ribbon by means of the numerical simulation approach. In this study, the conservation equations of continuity, momentum, and energy in the laminar, steady-state and isothermal conditions are resolved using a specific computational fluid dynamics (CFD) code based on the 3D finite volume method. The effects of the gap between the exchanger wall and the tip of the ribbon, the ribbon width, and the number of turns in the ribbon on the hydrodynamic and thermal behaviors are studied. Varying the gap values leads to reveal an optimum value giving the highest heat transfer coefficient. Moreover, numerical results have shown that increasing the ribbon width improves the heat transfer. Furthermore, the influence of the number of turns is carried out for Reynolds number ratios (Rer/Rea) inferior and superior to 1. Results revealed that increasing the number of turns avoids the back-mixing phenomenon and thus improves the heat transfer. In this study, the establishment of correlation is determined with the introduction of dimensionless and geometrical groups to predict the heat transfer coefficient in SSHE.
Kinematic Design and Evaluation of a Six-Bar Knee-Ankle-Foot Orthosis
Authors: Ghosh Shramana , Robson Nina P. , McCarthy J. Michael 
Published: February 2020

Abstract
This paper presents a new two-step design procedure and preliminary kinematic evaluation of a novel, passive, six-bar knee-ankle-foot orthosis (KAFO). The kinematic design and preliminary kinematic gait analysis of the KAFO are based on motion capture data from a single healthy male subject. Preliminary kinematic evaluation shows that the designed passive KAFO is capable of supporting flexion and extension of the knee joint during stance and swing phases of walking. The two-step design procedure for the KAFO consists of (1) computational synthesis based on user's motion data and (2) performance optimization. In the computational synthesis step, first the lower leg (knee-ankle-foot) of the subject is approximated as a 2R kinematic chain and its target trajectories are specified from motion capture data. Six-bar linkages are synthesized to coordinate the angular movements of knee and ankle joints of the 2R chain at 11 accuracy points. The first step of the design procedure yields 332 six-bar KAFO design candidates. This is followed by a performance optimization step in which the KAFO design candidates are optimally modified to satisfy specified constraints on end-effector trajectory and shape. This two-step process yields an optimally designed passive six-bar KAFO that shows promising kinematic results at the knee joint of the user during walking. The preliminary prototype manufactured is cost effective, easy to operate, and suitably demonstrates the feasibility of the proposed concept.