bluuebunny/crossref_metadata_2025_split huggingface dataset:
Predicting heterosis and inbreeding depression from population size and density to inform management efforts
Authors: Söderquist Linus , Broberg Anna , Rosenberg Viktor , Sletvold Nina 
Published: April 2020

Abstract

Effective population size should be positively related to census size and density, and it is expected to influence the strength of genetic drift, inbreeding and response to selection, and thus the distribution of the genetic load across populations.

We examined whether census population size and density predict the strength of inbreeding depression, heterosis and population mean fitness at the seed stage in the terrestrial orchid Gymnadenia conopsea by conducting controlled crosses (self, outcross within and between populations) in 20 populations of varying size (7–30,000 individuals) and density (1–12.8 individuals/m2). In the largest population, we also examined how local density affects the occurrence of self‐pollination with a pollen staining experiment.

The majority of populations expressed strong inbreeding depression at the seed stage (mean δID: min–max = 0.26: −0.53 to 0.51), consistent with a mainly outcrossing mating system and substantial genetic load. The effect of between‐population crosses varied from strong outbreeding depression to heterosis (mean δOD: min–max = 0.05: −0.22 to 0.92), indicating varying influence of drift and selection among populations.

Census population size did not significantly predict the strength of inbreeding depression, heterosis or population mean fitness. However, inbreeding depression was positively and heterosis negatively correlated with population density. The proportion of self‐massulae deposition was three times higher in sparse patches compared to dense ones (41% vs. 14%).

Combined effects of density‐dependent pollinator behaviour and limited seed dispersal may cause stronger genetic sub‐structuring in sparse populations and reduce the strength of the correlation between census and effective population size. The results point to the importance of considering population density in addition to size when evaluating the distribution of recessive deleterious alleles across populations.

Synthesis and applications. Management plans for threatened species often involve crosses between populations to restore genetic variation, a process termed genetic rescue. This study indicates that such conservation efforts should be more successful if designed on the basis of population density in addition to population size, because we found population density predicted both the strength of heterosis and inbreeding depression across populations of Gymnadenia conopsea.
Changes in problematic activities of daily living in persons with COPD during 1 year of usual care
Authors: Nakken Nienke , Janssen Daisy J. A. , Wouters Emiel F. M. , van den Bogaart Esther H. A. , Muris Jean W. M. , de Vries Geeuwke J. , Bootsma Gerben P. , Gronenschild Michiel H. M. , Delbressine Jeannet M. L. , van Vliet Monique , Spruit Martijn A. 
Published: April 2020

AbstractIntroductionPersons with chronic obstructive pulmonary disease (COPD) are often limited in performing their activities of daily living (ADLs). However, it remains unknown whether and to what extent problematic ADLs change over time and whether exacerbation‐related hospitalisations affect problematic ADLs. Therefore, we investigated self‐reported problematic ADLs of persons with COPD during 1 year of usual care (i.e. without a specific experimental intervention).MethodsStable persons with moderate to very severe COPD (n = 137) were included in this longitudinal study (registered in the Dutch Trial Register [NTR 3941]). Participants were visited at home at baseline and after 1 year. Participants with an exacerbation‐related hospitalisation during follow‐up were visited additionally within 2 weeks after hospital discharge. During all visits, participants’ personalised problematic ADLs were assessed using the Canadian Occupational Performance Measure (COPM), and perceived performance and satisfaction of important problematic ADLs were rated on a 10‐point scale.ResultsIn total, 90% of the participants reported at least one new important problematic ADL after 1 year. In the subgroup of participants with an exacerbation‐related hospitalisation (n = 31), 92% of the participants reported new problematic ADLs 2 weeks after discharge and 90% reported new problematic ADLs again after 1 year. Only the satisfaction score of problematic ADLs as mentioned during baseline improved after 1‐year follow‐up in all participants (p = .002) and in participants without an exacerbation‐related hospitalisation (n = 106; p = .014).ConclusionProblematic ADLs changed during 1 year of usual care, which underlines the need for regular assessment of problematic ADLs and referral to treatment options like monodisciplinary occupational therapy and/or a comprehensive pulmonary rehabilitation programme.
Does non‐destructive earthquake experience affect risk perception and motivate preparedness?
Authors: Sun Lei , Xue Lan 
Published: April 2020

AbstractThere are thousands of earthquakes every year, but most of them are small and are not disasters. This study explored whether non‐destructive earthquake experience affects public risk perception and motivates preparedness. The study respondents were from the Jiaodong Peninsula, China, where more than 20 small earthquakes have occurred during the past decade. The results show that non‐destructive earthquake experience positively affected public perception of the probability of an earthquake but not the perception of consequences. The relationship between non‐destructive earthquake experience and preparedness intention was not statistically significant. In addition, this study revealed that the perception of consequences was a positive predictor of earthquake preparedness intention, that is people with higher levels of perceived consequences of an earthquake were more likely to be motivated to prepare. However, non‐destructive earthquake experience moderated this relationship, that is weakened the strength of this relationship between perceived consequences and skill preparedness intention. These findings permit the identification of potential pathways to increase levels of disaster preparedness and potential barriers to enhancing disaster resilience in regions experiencing small hazards.
Friction Marks of Stabbing Tools in Tires
Authors: Finkelstein Nir S. , Silchenko Alexander , Cohen Yaron 
Published: April 2020

AbstractWhen receiving a stabbed tire for examination, forensic toolmark examiners can determine whether a suspect tool was used in a specific crime based on class‐characteristics and individual‐characteristics marks that have been left by the tool on the tire. This study discusses friction marks and their forensic value during the examination of a punctured tire. The term friction mark refers to the noticeable mark around the penetration area on a tire's surface. Tires designed to create high friction when contacting a road. Due to this design, friction is created between the stabbing tool shank and the sides of the hole. As a result of this friction, the shank of the stabbing tool wears the outer layer of tire around the hole. This leaves a friction mark whose general shape reflects the cross‐sectional shape of the stabbing tool’s shank. This phenomenon was observed and named by Locke (7) in his evaluation of tire puncture marks with knives. This article demonstrates the same phenomenon with other types of stabbing tools. Test stabs were produced with different tools representing a variety of cross‐sectional shapes of shanks, and the resulting friction marks were photo‐documented and discussed. Correlations between the various cross‐sectional shapes and their corresponding friction marks are shown. Based on friction mark examination, the examiner: (i) can infer suspect tool shank cross‐sectional shape with the evaluation of the friction mark shape and (ii) can deduce the maximum dimensions of the shank. This examination simplifies and accelerates the forensic comparison procedure and the investigation time.
The use of combination biological or small molecule therapy in inflammatory bowel disease: A retrospective cohort study
Authors: Glassner Kerri , Oglat Ayah , Duran Antonio , Koduru Pramoda , Perry Caroline , Wilhite Amanda , Abraham Bincy P. 
Published: April 2020

ObjectiveThere are limited data on using more than one biologic or small molecule drug combined to treat patients with inflammatory bowel disease. The aim of our study was to determine the effectiveness and safety of combination biologic use in inflammatory bowel disease.MethodsWe identified patients with Crohn's disease or ulcerative colitis who received treatment with a combination of two biologics or a biologic and a small molecule drug from 2015 to 2019 for persistent disease activity or concomitant rheumatological or dermatological disease. The primary end‐point was effectiveness, based on improvements in inflammatory markers, clinical, and endoscopic remission. The secondary end‐point was safety.ResultsOf the 50 patients treated with combination therapy there were significantly more patients in clinical and endoscopic remission at follow‐up compared to baseline (50% vs 14%, P = 0.0018, delta 36%, 95% confidence interval [CI] 0.13‐0.53; and 34% vs 6%, P = 0.0039, delta 28%, 95% CI 0.09‐0.47), respectively. Median erythrocyte sedimentation rate (17 mm/h vs 13 mm/h, P = 0.002) and C‐reactive protein (5.00 mg/dL vs 2.35 mg/dL, P = 0.002) also decreased posttreatment. There were eight serious adverse events and no deathsConclusionsCombination biologic therapy appears to be an effective option for patients with refractory inflammatory bowel disease or concomitant autoimmune disease that is inadequately controlled by biologic monotherapy. There was an increased risk of serious infection compared with biologic monotherapy; however, this risk might be minimized by discontinuing immunomodulators prior to initiating combination therapy. Large prospective studies are needed to confirm these findings.
Evaluation of model fit of inferred admixture proportions
Authors: Garcia‐Erill Genís , Albrechtsen Anders 
Published: April 2020

AbstractModel based methods for genetic clustering of individuals, such as those implemented in structure or ADMIXTURE, allow the user to infer individual ancestries and study population structure. The underlying model makes several assumptions about the demographic history that shaped the analysed genetic data. One assumption is that all individuals are a result of K homogeneous ancestral populations that are all well represented in the data, while another assumption is that no drift happened after the admixture event. The histories of many real world populations do not conform to that model, and in that case taking the inferred admixture proportions at face value might be misleading. We propose a method to evaluate the fit of admixture models based on estimating the correlation of the residual difference between the true genotypes and the genotypes predicted by the model. When the model assumptions are not violated, the residuals from a pair of individuals are not correlated. In the case of a bad fitting admixture model, individuals with similar demographic histories have a positive correlation of their residuals. Using simulated and real data, we show how the method is able to detect a bad fit of inferred admixture proportions due to using an insufficient number of clusters K or to demographic histories that deviate significantly from the admixture model assumptions, such as admixture from ghost populations, drift after admixture events and nondiscrete ancestral populations. We have implemented the method as an open source software that can be applied to both unphased genotypes and low depth sequencing data.
Placebo effects in allergen immunotherapy—An EAACI Task Force Position Paper
Authors: Pfaar Oliver , Agache Ioana , Bergmann Karl‐Christian , Bindslev‐Jensen Carsten , Bousquet Jean , Creticos Peter S. , Devillier Philippe , Durham Stephen R. , Hellings Peter , Kaul Susanne , Kleine‐Tebbe Jörg , Klimek Ludger , Jacobsen Lars , Jutel Marek , Muraro Antonella , Papadopoulos Nikolaos G. , Rief Winfried , Scadding Glenis K. , Schedlowski Manfred , Shamji Mohamed H. , Sturm Gunter , van Ree Ronald , Vidal Carmen , Vieths Stefan , Wedi Bettina , Gerth van Wijk Roy , Frew Anthony J. 
Published: April 2020

AbstractThe placebo (Latin “I will please”) effect commonly occurs in clinical trials. The psychological and physiological factors associated with patients’ expectations about a treatment's positive and negative effects have yet to be well characterized, although a functional prefrontal cortex and intense bidirectional communication between the central nervous system and the immune system appear to be prerequisites for a placebo effect. The use of placebo raises certain ethical issues, especially if patients in a placebo group are denied an effective treatment for a long period of time. The placebo effect appears to be relatively large (up to 77%, relative to pretreatment scores) in controlled clinical trials of allergen immunotherapy (AIT), such as the pivotal, double‐blind, placebo‐controlled (DBPC) randomized clinical trials currently required by regulatory authorities worldwide. The European Academy of Allergy and Clinical Immunology (EAACI) therefore initiated a Task Force, in order to better understand the placebo effect in AIT and its specific role in comorbidities, blinding issues, adherence, measurement time points, variability and the natural course of the disease. In this Position Paper, the EAACI Task Force highlights several important topics regarding the placebo effect in AIT such as a) regulatory aspects, b) neuroimmunological and psychological mechanisms, c) placebo effect sizes in AIT trials, d) methodological limitations in AIT trial design and e) potential solutions in future AIT trial design. In conclusion, this Position Paper aims to examine the methodological problem of placebo in AIT from different aspects and also to highlight unmet needs and possible solutions for future trials.
Autologous neurosensory retinal transplantation for recurrent macular hole retinal detachment in highly myopic eyes
Authors: Li Yanzi , Li Zhaohui , Xu Changzhong , Liu Yong , Kang Xueqin , Wu Jianhua 
Published: April 2020

AbstractPurposeTo investigate the morphological and functional reconstruction of the macular fovea after autologous neurosensory retinal transplantation for recurrent macular hole retinal detachment (MHRD) in highly myopic eyes.MethodsTen consecutive cases of recurrent MHRD with high myopia were retrospectively reviewed. All eyes underwent pars plana vitrectomy combined with autologous neurosensory retinal transplantation and were followed up for at least 3 months after silicone oil extraction. The main outcomes were whether or not the retina was reattached and the macular hole (MH) was closed, morphological changes in the retinal graft, best‐corrected visual acuity (BCVA), the sensitivity threshold and blood flow signal in the macula.ResultsAt the one month postoperative visit, there was an obvious boundary between the graft and the surrounding retinal tissue, and some retinal structural layers could be seen in the graft on optical coherence tomography scans. At the final follow‐up, eight eyes (80%) showed retinal reattachment and closure of the MH. Optical coherence tomography revealed blurring of the boundary between the graft and surrounding retinal tissue and that the retinal structure in the graft was disordered. The MH was not closed in two eyes (20%), in one case because of partial displacement of the graft and in the other because of incomplete coverage of the MH as a result of a smaller graft. The post‐BCVA was significantly better than the pre‐BCVA (1.32 ± 0.33 versus 2.01 ± 0.29 logMAR; p = 0.000, paired t‐test).ConclusionAutologous neurosensory retinal transplantation can be an effective treatment for recurrent MHRD in highly myopic eyes. ‘Fusion’ between the neurosensory retinal graft and the original retinal tissue may be the mechanism involved in the closure of the MH and reconstruction of the macular fovea.
Physical activity and sedentary behaviour in women with and without polycystic ovary syndrome: An Australian population‐based cross‐sectional study
Authors: Tay Chau Thien , Moran Lisa J. , Harrison Cheryce L. , Brown Wendy J. , Joham Anju E. 
Published: April 2020

AbstractObjectiveLifestyle is the first‐line treatment for women with polycystic ovary syndrome (PCOS). This study examines the physical activity (PA) levels and sedentary behaviours of women with and without PCOS, and their alignment with the PCOS PA guideline.MethodsThis cross‐sectional study on women (aged 22‐27 years) in the Australian Longitudinal Study on Women's Health was conducted in 2019 using data collected in 2017. Self‐reported PA levels and total daily sitting time (ST) of women with (n = 7051) and without (n = 796) self‐reported PCOS were presented, stratified by body mass index (BMI) and a combined overweight/obese group.Results71.0% and 56.7% of the entire study cohort achieved PA levels recommended for weight maintenance and weight loss, respectively. Overall, PA levels were lower and ST was higher in women with than without PCOS. In each BMI category, similar proportions of women with and without PCOS met the PA guidelines but became lower as BMI category increased. Fewer overweight/obese group women with than without PCOS aligned with recommendations for weight maintenance (58.7% vs 65.7%, P = .003) or weight loss (45.1% vs 50.3%, P = .032). ST ≥8 h/d was observed in two‐thirds of women with and without self‐reported PCOS similarly before and after stratifying by BMI.ConclusionHigh sedentary behaviour was extremely prevalent. Although the majority of women met PA recommendations for weight maintenance, only one in two overweight/obese women met PA recommendation for weight loss. Overweight/obese women with PCOS were more likely to participate in insufficient PA and require increased support to achieve sustainable healthy lifestyle.
Phenotypic and genotypic features of a large kindred with a germline AIP variant
Authors: Dal Jakob , Nielsen Eigil H. , Klose Marianne , Feldt‐Rasmussen Ulla , Andersen Marianne , Vang Søren , Korbonits Márta , Jørgensen Jens Otto L. 
Published: April 2020

AbstractContextAcromegaly is usually a sporadic disease, but familial cases occur. Mutations in the aryl hydrocarbon receptor‐interacting protein (AIP) gene are associated with familial pituitary adenoma predisposition. However, the pathogenicity of some AIP variants remains unclear and additional unknown genes may be involved.ObjectiveTo explore the phenotype and genotype of a large kindred carrying the p.R304Q AIP variant.MethodsThe family comprised 52 family members at risk of carrying the p.R304Q AIP variant including a case with gigantism and one with acromegaly and several family members with acromegalic features. Nine family members (three trios) underwent exome sequencing to identify putative pathogenic variants.ResultsWe identified 31 p.R304Q carriers, and based on two cases with somatotropinomas, the disease penetrance was 6%. We observed physical signs of acromegaly in several family members, which were independent of AIP status. Serum insulin‐like growth factor‐I (IGF‐I) levels in all family members were above the mean for age and sex (IGF‐I SDS: +0.6 [CI95% +0.4‐0.9], P < .01). Exome analysis identified two candidate genes: PDE11A, known to be associated with the development of adrenal tumours, and ALG14. Ten asymptomatic p.R304Q family members (age >50 years) were screened for the PDE11A and ALG14 variant; both variants were present in five of ten persons.ConclusionsThis large family adds new information on the p.R304Q AIP variant, and data suggest two new candidate genes could be associated with growth hormone excess.
Timing it right: Suspicious students, family bonds and becoming a woman in Quito, Ecuador
Authors: Grace Samantha L. 
Published: April 2020

AbstractTo improve access to education in Ecuador, state actors encourage parents and youth to think of girls’ emotional bonds to family as potential barriers to schooling. High schoolgirls and their mothers respond by synchronising their institutional and family responsibilities with the emotional norms of age grades such as ‘student youth’ and ‘mother’. Girls dedicated to embodying national progress find themselves trying to delay strong emotional commitments to family until after they have completed their schooling. Examining their construction as emotional suspects reveals the stakes of age expectations for female citizens in Ecuador.
Hard and soft tissue analysis of alveolar ridge preservation in esthetic zone using deproteinized bovine bone mineral and a saddle connective tissue graft: A long‐term prospective case series
Authors: Botilde Gaëlle , Colin Paul‐Emile , González‐Martín Oscar , Lecloux Geoffrey , Rompen Eric , Lambert France 
Published: April 2020

AbstractAimAlthough alveolar ridge preservation (ARP) procedures appear to limit bone resorption after dental extraction, long‐term outcomes remain limited. The objective of this prospective case series was to evaluate the long‐term hard and soft tissue changes after ARP procedure in the aesthetic area, using deproteinized bovine bone mineral (DBBM) and saddle connective tissue graft.Materials and MethodsFifteen patients were subjected to ARP and impressions and CT scans were taken at baseline and 3 months. After 5 to 7 years, a secondary long‐term clinical and radiological analysis was carried out. Horizontal alveolar bone changes, soft tissue profiles and implant outcomes were assessed.ResultsAlthough a limited hard and soft tissue remodeling occurred during the first 3 months after ARP, from 3 months to the long‐term evaluation, the alveolar bone dimensions remained stable and the soft tissue profiles significantly increased, in the more cervical levels. The implant survival rate after 5 to 7 years yielded 100% and peri‐implant bone levels and soft tissue health were good.ConclusionWithin the limits of the study, the present data confirms the long‐term effectiveness of ARP using DBBM and a saddle connective tissue graft offering stable hard and soft tissue conditions up to 5 to 7 years.