bluuebunny/crossref_metadata_2025_split huggingface dataset:
Identification of a de novo mutation of the elastin gene by targeted exome sequencing in autosomal dominant cutis laxa
Authors: Makino Teruhiko , Terada Yoshiyuki , Mizawa Megumi , Hirono Keiichi , Adachi Yuichi , Aoki Satomi , Kubo Akiharu , Shimizu Tadamichi 
Published: August 2022

Abstract
Cutis laxa (CL) comprises a heterogeneous group of entities mainly classified as X-linked, autosomal dominant and recessive forms, which differ in severity. We encountered a CL baby with no familial history. We performed targeted exome sequencing, and detected a de novo heterozygous frameshift mutation in the elastin gene of the baby.
Exposure to oestrogen and risk of anastomotic leakage after colorectal cancer surgery – A clue to the different leak rates in men and women
Authors: Rutegård Martin , Moshtaghi‐Svensson John , Weibull Caroline E. , Ottander Ulrika , Nordenvall Caroline , Sund Malin 
Published: August 2022

AbstractBackgroundColorectal anastomotic leakage is consistently more common in men, regardless of tumour location. This fact is largely unexplained but might be a consequence of biological differences including hormonal exposure and not only related to anatomy.MethodsThis was a retrospective, nationwide registry‐based observational study of post‐menopausal women operated for colorectal cancer with an anastomosis between 2007 and 2016. Hormonal exposure before surgery, as defined by prescribed drugs affecting oestrogen levels, was related to postoperative anastomotic leakage, using mixed‐effects logistic regression models with adjustment for confounding. Odds ratios (ORs) with corresponding 95% confidence intervals (CIs) were derived. In addition, separate estimates according to tumour location were computed, and a sensitivity analysis excluding topical oestrogen hormone exposure was conducted.ResultsSome 16,535 post‐menopausal women were included, of which 16.2% were exposed to drugs increasing oestrogen levels before surgery. In this exposed group compared to the unexposed, leak rates were 3.1 and 3.8%, respectively. After adjustment, a reduction of anastomotic leakage in the exposed group was detected (OR: 0.77; 95% CI: 0.59–0.99). This finding was largely attributed to the rectal cancer subgroup (OR: 0.55; 95% CI: 0.36–0.85), while the exclusion of topical oestrogen drugs further reduced the estimates of the main analysis (OR: 0.63; 95% CI: 0.38–1.02).ConclusionsAnastomotic leakage rates are lower in women exposed to hormone replacement therapy before surgery for colorectal cancer, which might explain some of the difference in leak rates between men and women, especially regarding rectal cancer.
Incidence and risk factors for secondary failure after acute obstetric sphincter injury repair – an audit of 239 women
Authors: Jain Anshini , Lew Chen , Thungathruthi Kaushik , Ng Suat Chin , Hiscock Richard , Mirbagheri Naseem 
Published: August 2022

AbstractAimThe rate of secondary failure after obstetric sphincter injury repair is unknown, with the literature reporting rates ranging from 0.1% to 53%. We aimed to perform an audit to identify the rate and risk factors for failure of sphincter repair in a cohort of postpartum women using endoanal ultrasound (EAUS) and manometry, assessing the risk factors and impact of these events.MethodProspective data were collected within a 2 year period from patients who attended the perineal clinic at Eastern Health. Variables of primary repair and presence of postpartum complications were recorded and subsequently analysed.ResultsOf 239 patients with obstetric anal sphincter injury (OASI) included, 100 (41.8%) had EUAS evidence of sphincter defects. Only 20% with secondary repair failure were symptomatic with faecal or flatal incontinence at a mean follow‐up of 23.4 months postpartum. Patients with secondary repair failure had lower anal resting (p = 0.006) and maximum squeeze pressures compared with patients with intact repairs (p < 0.001). In terms of variables that were investigated, namely location, operator hierarchy, type of repair and material used, none had a statistically significant correlation with secondary repair failure of OASI. Postpartum complications had an overall incidence of 12.7%, and those with any complication were found to have an increased rate of secondary failure of repair (p = 0.157).ConclusionUsing EAUS to confirm secondary failure of repair, incidence was 41.4% in this cohort. There were no identifiable modifiable variables that reduced the risk of secondary failure of repair. Further prospective research with increased sample size and longer follow‐up periods is required to assess the validity of the findings.
Reasoning AboutWant
Authors: Harner Hillary , Khemlani Sangeet 
Published: August 2022

AbstractNo present theory explains the inferences people draw about the real world when reasoning about “bouletic” relations, that is, predicates that express desires, such aswantin “Lee wants to be in love”. Linguistic accounts ofwantdefine it in terms of a relation to a desirer's beliefs, and how its complement is deemed desirable. In contrast, we describe a new model‐based theory that posits that by default, desire predicates such aswantcontrast desires against facts. In particular,A wants Pimplies by default thatPis not the case, because you cannot want what is already true. On further deliberation, reasoners may infer thatA believes, but does not know for certain, thatPis not the case. The theory makes several empirical predictions about how people interpret, assess the consistency of, and draw conclusions from desire predicates likewant. Seven experiments tested and validated the theory's central predictions. We assess the theory in light of recent proposals of desire predicates.
Donor hypernatremia is associated with increased mortality after heart transplantation: A retrospective study
Authors: Oehler Daniel , Immohr Moritz Benjamin , Böttger Charlotte , Bruno Raphael Romano , Sigetti Dennis , Haschemi Jafer , Aubin Hug , Horn Patrick , Tudorache Igor , Westenfeld Ralf , Akhyari Payam , Kelm Malte , Lichtenberg Artur , Boeken Udo 
Published: August 2022

AbstractBackground and aimsDonor hypernatremia has been associated with primary graft dysfunction in heart transplantation (HTx) and is correlated with impaired outcome following liver and renal transplantation. However, controversial data exist regarding the impact of sodium dysregulation on survival. This study aims to investigate the impact of donor sodium levels on early morbidity and short‐ and midterm survival following HTx.MethodsBetween September 2010 and June 2021, a total of n = 218 patients underwent HTx in our center. From those, 214 could be included retrospectively in our study. For each donor, sodium levels were collected and different cut‐off levels from 145 to 159 mmol/L were investigated by Kaplan‐Meier‐analysis. Then, recipients were divided in three groups regarding donor sodium: Normonatremia (133–145 mmol/L, n = 73), mild hypernatremia (146–156 mmol/L, n = 105) and severe hypernatremia (>156 mmol/L, n = 35). Recipient and donor variables were reviewed and compared, including peri‐ and postoperative characteristics and recipient survival after up to 5 years after transplantation.ResultsAll patients were comparable regarding baseline characteristics and perioperative parameters. Regarding early mortality, 90‐day survival was significantly reduced only in patients with severe donor hypernatremia in comparison to normonatremia (90% vs. 71%, p = .02), but not in mild hypernatremia (89%, p = .89). One‐year survival was comparable in all groups (p > .28).ConclusionSevere donor hypernatremia was associated with reduced short‐term survival, while the correlation weakens > 1 year after HTx. As our study is limited due to the nature of its retrospective, single‐center approach, future prospective studies are needed to evaluate the importance of donor management with regard to hypernatremia.
New insights into the formation of biodiversity hotspots of the Kenyan flora
Authors: Zhang Qiang , Ye Jian‐Fei , Le Chi‐Toan , Njenga Dennis Mwithukia , Rabarijaona Narindra Romer , Omollo Wyckliffe Omondi , Lu Li‐Min , Liu Bing , Chen Zhi‐Duan 
Published: August 2022

AbstractAimThis study aimed to investigate the distribution patterns of plant diversity in Kenya, how climatic fluctuations and orogeny shaped them, and the formation of its β‐diversity.LocationKenya, East Africa.TaxonAngiosperms.MethodsWe quantified patterns of turnover and nestedness components of phylogenetic β‐diversity for angiosperm species among neighbouring sites using a well‐resolved phylogenetic tree and extensive distribution records from public databases and other published sources. We applied clustering methods to delineate biota based on pairwise similarities among multiple sites and used a random assembly null model to assess the effects of species abundance distribution on phylogenetic β‐diversity.ResultsThe phylogenetic turnover of the Kenyan flora, intersecting with the biodiversity hotspots Eastern Afromontane, Coastal Forests of Eastern Africa, and Horn of Africa, shows a non‐monotonic pattern along a latitudinal gradient that is strongly structured into volcanic and coastal areas. The other areas are mainly dominated by phylogenetic nestedness, even in the eastern part of the equatorial region parallel to the volcanic area. Phylogenetic diversity and phylogenetic structure analyses explain the mechanism of the observed phylogenetic turnover and nestedness patterns. We identified five phytogeographical regions in Kenya: the Mandera, Turkana, Volcanic, Pan Coastal and West Highland Regions.ConclusionsVariations in turnover gradient and coexistence are highly dependent on the regional biogeographical history resulting from climatic fluctuations and long‐lasting orogeny, which jointly shaped the biodiversity patterns of the Kenyan flora. The nestedness component dominated climatically unstable regions and is presumed to have been caused by heavy local species extinction and recolonization from the Volcanic Region. The high turnover component in climatically stable regions may have preserved old lineages and the prevalence of endemic species within narrow ranges.
Forecasting climate change response in an alpine specialist songbird reveals the importance of considering novel climate
Authors: DeSaix Matthew G. , George T. Luke , Seglund Amy E. , Spellman Garth M. , Zavaleta Erika S. , Ruegg Kristen C. 
Published: August 2022

AbstractAimSpecies persistence in the face of climate change depends on both ecological and evolutionary factors. Here, we integrate ecological and whole‐genome sequencing data to describe how populations of an alpine specialist, the Brown‐capped Rosy‐Finch (Leucosticte australis) may be impacted by climate change.LocationSouthern Rocky Mountains in North America.MethodsWe sampled 116 Brown‐capped Rosy‐Finches from 11 sampling locations across the breeding range. Using 429,442 genetic markers from whole‐genome sequencing, we described population genetic structure and identified a subset of 436 genomic variants associated with environmental data. We modelled future climate change impacts on habitat suitability using ecological niche models (ENMs) and impacts on putative local adaptation using gradient forest models (a genetic‐environment association analysis; GEA). We used the metric of niche margin index (NMI) to determine regions of forecasting uncertainty due to climate shifts to novel conditions.ResultsPopulation genetic structure was characterized by weak genetic differentiation, indicating potential ongoing gene flow among populations. Precipitation as snow had high importance for both habitat suitability and changes in genetic variation across the landscape. Comparing ENM and gradient forest models with future climate predicted suitable habitat contracting at high elevations and population allele frequencies across the breeding range needing to shift to keep pace with climate change. NMI revealed large portions of the breeding range shifting to novel climate conditions.Main conclusionsOur study demonstrates that forecasting climate vulnerability from ecological and evolutionary factors reveals insights into population‐level vulnerability to climate change that are obfuscated when either approach is considered independently. For the Brown‐capped Rosy‐Finch, our results suggest that persistence may depend on rapid adaptation to novel climate conditions in a contracted breeding range. Importantly, we demonstrate the need to characterize novel climate conditions that influence uncertainty in forecasting methods.
Barriers to and enablers of postpartum health behaviours among women from diverse cultural backgrounds with prior gestational diabetes: A systematic review and qualitative synthesis applying the theoretical domains framework
Authors: Neven Adriana C. H. , Lake Amelia J. , Williams Amelia , O'Reilly Sharleen L. , Hendrieckx Christel , Morrison Melinda , Dunbar James A. , Speight Jane , Teede Helena , Boyle Jacqueline A. ,   the ME‐MaGDA Study Group
Published: August 2022

AbstractAimsRacial and ethnic disparities exist in gestational diabetes prevalence and risk of subsequent type 2 diabetes mellitus (T2DM). Postpartum engagement in healthy behaviours is recommended for prevention and early detection of T2DM, yet uptake is low among women from diverse cultural backgrounds. Greater understanding of factors impacting postpartum health behaviours is needed. Applying theTheoretical Domains Framework(TDF) andCapability,Opportunity,Motivation‐Behaviour(COM‐B) model, our aim was to synthesise barriers to and enablers of postpartum health behaviours among women from diverse cultural backgrounds with prior GDM and identify relevant intervention components.MethodsDatabases, reference lists and grey literature were searched from September 2017 to April 2021. Two reviewers screened articles independently against inclusion criteria and extracted data. Using an inductive–deductive model, themes were mapped to the TDF and COM‐B model.ResultsAfter screening 5148 citations and 139 full texts, we included 35 studies (N = 787 participants). The main ethnicities included Asian (43%), Indigenous (15%) and African (11%). Barriers and enablers focused onCapability(e.g. knowledge),Opportunity(e.g. competing demands, social support from family, friends and healthcare professionals, culturally appropriate education and resources) andMotivation(e.g. negative emotions, perceived consequences and necessity of health behaviours, social/cultural identity). Five relevant intervention functions are identified to link the barriers and enablers to evidence‐based recommendations for communications to support behaviour change.ConclusionsWe provide a conceptual model to inform recommendations regarding the development of messaging and interventions to support women from diverse cultural backgrounds in engaging in healthy behaviours to reduce risk of T2DM.
A systematic review and meta‐analysis on oncological radiotherapy in patients with a cardiac implantable electronic device: Prevalence and predictors of device malfunction in 3121 patients
Authors: Malavasi Vincenzo Livio , Imberti Jacopo Francesco , Tosetti Alberto , Romiti Giulio Francesco , Vitolo Marco , Zecchin Massimo , Mazzeo Ercole , Giuseppina De Marco , Lohr Frank , Lopez‐Fernandez Teresa , Boriani Giuseppe 
Published: August 2022

AbstractBackgroundThe number of patients with cardiac implantable electronic devices (CIEDs) undergoing radiotherapy (RT) for cancer treatment is growing. At present, prevalence and predictors of RT‐induced CIEDs malfunctions are not defined.MethodsSystematic review and meta‐analysis conducted following the PRISMA recommendations. PubMed, Scopus and Google Scholar were searched from inception to 31/01/2022 for studies reporting RT‐induced malfunctions in CIEDs patients. Aim was to assess the prevalence of RT‐induced CIEDs malfunctions and identify potential predictors.ResultsThirty‐two out of 3962 records matched the inclusion criteria and were included in the meta‐analysis. A total of 135 CIEDs malfunctions were detected among 3121 patients (6.6%, 95% confidence interval [CI]: 5.1%–8.4%). The pooled prevalence increased moving from pacemaker (PM) to implantable cardioverter defibrillator (ICD), and cardiac resynchronization therapy and defibrillator (CRT‐D) groups (4.1%, 95% CI: 2.9–5.8; 8.2% 95% CI: 5.9–11.3; and 19.8%, 95% CI: 11.4–32.2 respectively). A higher risk ratio (RR) of malfunctions was found when neutron‐producing energies were used as compared to non‐neutron‐producing energies (RR 9.98, 95% CI: 5.09–19.60) and in patients with ICD/CRT‐D as compared to patients with PM/CRT‐P (RR 2.07, 95% CI: 1.40–3.06). On the contrary, no association was found between maximal radiation dose at CIED >2 Gy and CIEDs malfunctions (RR 0.93; 95% CI: 0.31–2.76).ConclusionsRadiotherapy related CIEDs malfunction had a prevalence ranging from 4% to 20%. The use of neutron‐producing energies and more complex devices (ICD/CRT‐D) were associated with higher risk of device malfunction, while the radiation dose at CIED did not significantly impact on the risk unless higher doses (>10 Gy) were used.
ShareChain: Blockchain‐enabled model for sharing patient data using federated learning and differential privacy
Authors: Javed Laraib , Anjum Adeel , Yakubu Bello Musa , Iqbal Majid , Moqurrab Syed Atif , Srivastava Gautam 
Published: August 2022

AbstractEvery individual in our technologically evolved world needs proper data security. The procedure of exchanging medical information is increasingly concerned with data privacy. Many techniques have been offered for preserving data security. These techniques use approaches such as ‐anonymity, ‐diversity, and others. However, such solutions are vulnerable to attribute disclosure, homogeneity, and background knowledge risks due to their syntactic nature. In this work, we describe a safe and secure architecture and semantic approach for data sharing that is based on blockchain, local differential privacy (LDP), and federated learning (FL). The proposed framework generates an atmosphere devoid of trust in which data owners are no longer required to have trust in the controllers. The FL models enable the whole network to decentralize its data‐driven learning. Interplanetary file system (IPFS) is used to provide data security in a distributed environment because each file in IPFS has a digital fingerprint that is computed using a cryptographic hash function on the file's whole contents. Due to the rigorous privacy guarantee, data owners no longer need to be worried about the security of their data. The proposed model's assessment parameters include latency, throughput, privacy, and accuracy. The data privacy of the proposed model is protected via LDP and FL, and its latency and throughput communication transactions on permissioned blockchain are calculated and compared with those of the benchmark model. The findings indicate that the proposed model delivers 85% more accurate privacy than the benchmark model.
Effect of microstructural heterogeneity on fatigue strength predicted by reinforcement machine learning
Authors: Awd Mustafa , Münstermann Sebastian , Walther Frank 
Published: August 2022

AbstractThe posterior statistical distributions of fatigue strength are determined using Bayesian inferential statistics and the Metropolis Monte Carlo method. This study explores how structural heterogeneity affects ultrahigh cycle fatigue strength in additive manufacturing. Monte Carlo methods and procedures may assist estimate fatigue strength posteriors and scatter. The acceptable probability in Metropolis Monte Carlo relies on the Markov chain's random microstructure state. In addition to commonly studied variables, the proportion of chemical composition was demonstrated to substantially impact fatigue strength if fatigue lifetime in crack propagation did not prevail due to high threshold internal notches. The study utilizes an algorithm typically used for quantum mechanics to solve the complicated multifactorial fatigue problem. The inputs and outputs are modified by fitting the microstructural heterogeneities into the Metropolis Monte Carlo algorithm. The main advantage here is applying a general‐purpose nonphenomenological model that can be applied to multiple influencing factors without high numerical penalty.
An international turn: Rebuilding Chinese temple networks in Indonesia 20 years after the Suharto era
Authors: Hertzman Emily Zoe 
Published: August 2022

AbstractThe transnationalization of Chinese temples is producing new spatial imaginaries and adding cosmopolitan dimensions to Chinese Indonesian identities in the post‐Suharto era. In 1999, the Indonesian state legally‐sanctioned Chinese Popular Religion after decades of prohibition, ushering in a period of Chinese religious revival nationally backed by constitutional legitimacy. The recent emergence of transnational temple networks is providing a further form of cultural legitimacy based on symbols and statuses that circulate in a broader cosmopolitan transnational social sphere. Using case studies of three temples in Singkawang, Indonesia, each with a different form of international network, this paper shows how the transnational circulation of religious teachings, people, ideas, donations and deities can provide the raw materials for expressions of cultural identity which are locally rooted and embedded in specific ethnic politics of belonging. Forging transnational religious connections has the potential to develop into long lasting and formal institutional platforms of exchange, however, it often begins with informal, spontaneous and idiosyncratic encounters.
What side of town? How proximity to critical survival factors affects rural business longevity
Authors: Van Leuven Andrew J. , Low Sarah A. , Hill Edward (Ned) 
Published: August 2022

AbstractThis research adds to the literature on locational determinants of business survival by focusing on an establishment's proximity to fixed assets. Using longitudinal, establishment‐level data from rural counties in the Midwestern United States, we developed a hazard model to estimate the likelihood of rural businesses surviving the Great Recession and the recovery that followed (2007–2017). Two critical survival factors are of principal interest: proximity to a pre‐automobile era downtown business district and proximity to a limited‐access highway ramp. The results suggest that highway proximity enhances survival for manufacturing, transportation, and wholesaling establishments, as does own‐industry agglomeration. For food, retail, and accommodation businesses, proximity to cultural anchor institutions enhances the probability of survival but competitive effects, including downtown proximity, reduce the likelihood of survival. On its own, proximity to a downtown was not associated with higher odds of business survival.