bluuebunny/crossref_metadata_2025_split huggingface dataset:
Analysis of copy number variation in men with non‐obstructive azoospermia
Authors: Wyrwoll M. J. , Wabschke R. , Röpke A. , Wöste M. , Ruckert C. , Perrey S. , Rotte N. , Hardy J. , Astica L. , Lupiáñez D. G. , Wistuba J. , Westernströer B. , Schlatt S. , Berman A. J. , Müller A. M. , Kliesch S. , Yatsenko A. N. , Tüttelmann F. , Friedrich C. 
Published: August 2022

AbstractBackgroundRecent findings demonstrate that single nucleotide variants can cause non‐obstructive azoospermia (NOA). In contrast, copy number variants (CNVs) were only analysed in few studies in infertile men. Some have reported a higher prevalence of CNVs in infertile versus fertile men.ObjectivesThis study aimed to elucidate if CNVs are associated with NOA.Materials and methodsWe performed array‐based comparative genomic hybridisation (aCGH) in 37 men with meiotic arrest, 194 men with Sertoli cell‐only phenotype, and 21 control men. We filtered our data for deletions affecting genes and prioritised the affected genes according to the literature search. Prevalence of CNVs was compared between all groups. Exome data of 2,030 men were screened to detect further genetic variants in prioritised genes. Modelling was performed for the protein encoded by the novel candidate gene TEKT5 and we stained for TEKT5 in human testicular tissue.ResultsWe determined the cause of infertility in two individuals with homozygous deletions of SYCE1 and in one individual with a heterozygous deletion of SYCE1 combined with a likely pathogenic missense variant on the second allele. We detected heterozygous deletions affecting MLH3, EIF2B2, SLX4, CLPP and TEKT5, in one subject each. CNVs were not detected more frequently in infertile men compared with controls.DiscussionWhile SYCE1 and MLH3 encode known meiosis‐specific proteins, much less is known about the proteins encoded by the other identified candidate genes, warranting further analyses. We were able to identify the cause of infertility in one out of the 231 infertile men by aCGH and in two men by using exome sequencing data.ConclusionAs aCGH and exome sequencing are both expensive methods, combining both in a clinical routine is not an effective strategy. Instead, using CNV calling from exome data has recently become more precise, potentially making aCGH dispensable.
Intrauterine cannabis exposure and fetal and maternal blood flow: a case–control study
Authors: Brik Maia , Sandonis Miguel , Gil Judit , Hernandez‐Fleury Alina , Parramón‐Puig Gemma , Maiz Nerea , Suy Anna , Carreras Elena 
Published: August 2022

AbstractIntroductionCannabis consumption during pregnancy increases the risk of pregnancy and neonatal complications. Since the underlying mechanism is unknown, the purpose of this study is to evaluate the changes in maternal and fetal blood flow in pregnancies exposed to cannabis, Δ9‐tetrahydrocannabinol (THC).Material and methodsA case–control study between 2013 and 2020, included women with continued cannabis exposure during the pregnancies, defined by qualitative detection of THC in urine (Cannabis Group), and low‐risk pregnancy women divided into tobacco smokers (Tobacco Group), and non‐tobacco smokers (Control Group). We evaluated the association between cannabis consumption and maternal and fetal blood flow parameters measured by Doppler ultrasound: uterine artery at 11–14, 20–22 and 33–35 weeks, umbilical artery and middle cerebral artery at 33–35 weeks. Cerebral‐placental ratio was calculated.ResultsOverall, 275 participants were included, 60 in the Cannabis Group, 17 in the Tobacco Group and 198 in the Control Group. At 33–35 weeks, differences were found in the umbilical artery pulsatility index (PI) (1.05 ± 0.23, 1.06 ± 0.19, 0.93 ± 0.15, P < 0.01), middle cerebral artery PI (1.75 ± 0.35, 1.90 ± 0.45, 1.88 ± 0.34, P < 0.05), cerebral‐placental ratio (1.69 ± 0.40, 1.85 ± 0.53, 2.07 ± 0.47, P < 0.05) and mean uterine artery PI (0.89 ± 0.26, 0.73 ± 0.19, 0.74 ± 0.20, P < 0.01), respectively. On logistic regression analysis, adjusted for maternal age, maternal body mass index, maternal weight and white ethnicity, both cannabis and tobacco were predictors for increased umbilical artery PI, but only cannabis was a predictor for a decreased cerebral‐placental ratio and an increased uterine artery PI at 33–35 weeks.ConclusionsData from a large cohort of continuous cannabis exposure pregnancies show that cannabis is associated with maternal and fetal blood flow changes. However, it is not possible to disentangle the association of the tobacco and cannabis.
Technical considerations for laparoscopic transabdominal preperitoneal repair of concurrent Spigelian‐inguinal hernia complex: A case report and review of literature
Authors: Weijie Marc Ong , Lee Jingwen 
Published: August 2022

AbstractSpigelian hernia with concurrent inguinal hernia is not uncommon. The hernia location makes conventional laparoscopic repair challenging and this is commonly repaired by the open method. We present the technical considerations and feasibility, as well as literature review, of such a hernia repaired via a minimally invasive fashion. We performed a laparoscopic transabdominal preperitoneal hernia repair for a 59‐year‐old woman who presented with symptomatic irreducible large Spigelian‐inguinal complex hernia, with a hernia neck of 4 cm on computed tomography scan. The hernia contents were reduced transabdominally and subsequently, the preperitoneal space was created via a transabdominal preperitoneal method to allow for hernia defect closure and subsequent mesh placement. The patient was discharged on postoperative day 2 without complication. At 6 months follow‐up, she had no complications or recurrence. With increased experience, the laparoscopic repair of complex Spigelian‐inguinal concurrent hernias is safe and feasible.
Coordination versus organization: Diverging logics of firm cooperation in Denmark and Sweden
Authors: Ibsen Christian Lyhne , Sezer Lisa , Doellgast Virginia 
Published: August 2022

AbstractEmployers and their business associations have become increasingly important actors promoting market competition – even in once highly coordinated and regulated European economies. Based on a comparison of the Danish and Swedish telecommunications industries, we ask how differences in business association structures relate to the ways firms cooperate in competitive markets. In Denmark, fragmented, competing business associations encouraged a more unstable logic of coordination, with firms predominately focussed on pursuing particularistic interests in public policy lobbying and exit‐oriented strategies in employment relations. In contrast, the unified business association in Sweden encouraged a logic of organization, with firms predominately seeking collective good provision in public policy lobbying and engaging in mutual gains bargaining. Findings contribute to debates on the role of business associations in fostering firm cooperation and collective regulation.
Nexus between economic risk and political risk in the United Kingdom: Evidence from wavelet coherence and quantile‐on‐quantile approaches
Authors: Ayhan Fatih , Kartal Mustafa Tevfik , Adebayo Tomiwa Sunday , Kirikkaleli Derviş 
Published: August 2022

AbstractThis study examines the linkage between economic risk and political risk in the United Kingdom. This linkage has attracted the attention of policymakers; however, there is no consequence of the linkage in the existing literature. The study aims to close this gap for the UK case by applying wavelet coherence (WTC) and quantile‐on‐quantile regression (QQR) approaches and using quarterly data between 1984/Q1 and 2020/Q4. The results of the WTC reveal that there is time–frequency dependency between economic risk and political risk majorly in the medium and low frequencies. Moreover, the direction of the causality changes over time. Furthermore, the outcomes of the WTC show that economic risk leads political risk between 1995 and 2005, whereas political risk leads economic risk from 2006 to 2019. The outcomes of the QQR approach disclose that in the higher tail (0.7–0.95) of political risk and lower and medium tail (0.05–0.60) of economic risk, the effect of political risk on economic risk is positive and strong. On the flip side, at all quantiles (0.05–0.95) of economic risk and lower quantiles (0.10–0.30) of political risk, the effect of political risk on economic risk is positive and strong. The results are also validated by the outcomes of partial wavelet coherence, multiple wavelet coherence, and quantile regression. Hence, the results highlight the importance of political risk (economic risk) for economic risk (political risk) in the UK case.
Intra‐ and interspecific nest stacking in marsh‐dwelling songbirds
Authors: Gadek Chauncey R. , Williamson Jessie L. , Witt Christopher C. 
Published: August 2022

AbstractNest stacking is a rarely reported phenomenon in birds. Here, we place the behavior within the broader context of nest functions, describe new observations of nest stacking within and between Neotropical marsh‐dwelling songbirds, and discuss the ecological significance of this behavior, including its role in interspecific facilitation.Abstract in Spanish is available with online material.
Panton–Valentine leucocidin-producing Staphylococcus aureus: a clinical review
Authors: Hussain Khawar , Bandyopadhyay Anisha , Roberts Nerys , Mughal Nabeela , Moore Luke S. P. , Fuller Lucinda Claire 
Published: August 2022

Abstract
Panton–Valentine leucocidin (PVL) is a virulence factor produced by certain strains of Staphylococcus aureus (SA). Through its cytolytic action on the cell membranes of human polymorphonuclear neutrophils, PVL causes a range of pathologies collectively known as PVL-SA disease. The hallmark clinical signs of PVL-SA are recurrent boils and necrotizing skin and soft tissue infections (SSTIs) in otherwise healthy patients; however, it can lead to more severe and invasive presentations, including necrotizing haemorrhagic pneumonia, necrotizing fasciitis and purpura fulminans. Young adults with minimal previous exposure to healthcare settings tend to be at highest risk for acquiring PVL-SA disease, with close physical contact playing a central role in disease transmission. The prevalence of PVL-SA varies globally; however, this is often underestimated owing to a lack of routine PVL testing. In the UK, PVL-positive SA isolates have been rising over the past decade alongside an increasing prevalence of multidrug resistance in larger cities. This review article aims to raise awareness of the PVL toxin, to aid clinicians with diagnostic pointers and to provide guidance with treatment, with an emphasis on the need for further population-based studies.
Future changes in habitat availability for two specialist snake species in the imperiled rocklands of South Florida, USA
Authors: Subedi Suresh C. , Walls Susan C. , Barichivich William J. , Boyles Ryan , Ross Michael S. , Hogan J. Aaron , Tupy John A. 
Published: August 2022

AbstractRockland habitat in South Florida, USA, is a threatened ecosystem that has been lost, fragmented, or degraded because of urbanization or other anthropogenic disturbance. Furthermore, low‐lying islands and coastal areas are experiencing sea level rise (SLR) and an increased frequency and intensity of tidal flooding, putting rockland habitats there at increasing risk of ecological change. We evaluated changes in the extent of rockland habitat under various scenarios of future SLR, tidal flooding, and human development for two endemic state‐listed threatened species of snakes, the Rim Rock Crowned Snake (Tantilla oolitica) and the Key Ring‐necked Snake (Diadophis punctatus acricus). Both snakes are restricted to South Florida. We used recent and historical species' records to determine each species' habitat range. We then estimated the extent of future habitat loss due to SLR and continued human development, as well as degradation of the remaining habitat. We also asked whether the future potential drivers of habitat loss and degradation differ between the two species and across their habitat ranges. We predicted that saltwater intrusion could negatively affect rocklands by 2050, resulting in degradation of 80% of the existing habitat because of an anticipated 42 cm of SLR. Moreover, our model suggests short‐term stochastic events such as storm surge and high tides may increasingly saturate the root zone of rockland vegetation before complete inundation. Under the extreme scenario, we predict most of the rockland habitat used by these two species of snakes may be inundated by 2080. Under the extreme SLR scenario, current rocklands are likely to convert to more halophytic habitat (mangrove or salt marsh wetland) within 50–60 years. Under the low scenario, 31% of rockland habitat may be lost due to human development by 2030. Therefore, mitigation actions may help to conserve specialist species within rockland habitat threatened by human activities and climate change.
Species' movement influence responses to habitat fragmentation
Authors: Chetcuti Jordan , Kunin William E. , Bullock James M. 
Published: August 2022

AbstractAimHuman conversion of land leads to habitat loss and fragmentation. The effects of habitat loss are well‐established, but the effects of fragmentation beyond those of habitat loss, “fragmentation per se” (FPS), are intensely debated. One area of debate is how different species might respond to FPS. We will answer whether FPS have more negative effects on species that spend more time in the matrix and less on species with higher potential patch encounter rates.LocationVirtual landscapes.MethodsWe simulated the effects of FPS on multiple species with different movement characteristics. All species moved with a random walk (RW), a correlated RW (CRW), or a habitat‐dependent walk (HDW). Species also had increasing habitat bias which caused individuals to have a higher probability of moving into a more suitable habitat. The walk type modified the rate at which species encountered habitat patches. Increased bias caused individuals to spend more time in suitable habitats and less time in the matrix between patches. All species experienced higher mortality in less suitable habitats. We analysed FPS effects on species for whom the fragmented focal habitat was the most suitable.ResultsWith bias, the species diversity of RW species declined with FPS, while FPS had little effect on the species diversity of species moving by CRW. For HDW species, spending less time in the matrix (moderate movement bias) caused species diversity to increase with FPS, but to decline with high bias.Main conclusionsThese results suggest that even for species that are dependent on fragmented habitat, FPS does not have a unidirectional effect. FPS can have a positive effect on species with high patch encounter rates (HDW with moderate bias) as their functional connectivity increases. These results help to explain why different studies show contradictory effects of FPS on biodiversity.
The homeodomain transcription factorVentx2regulates respiratory progenitor cell number and differentiation timing duringXenopuslung development
Authors: Rankin Scott A. , Zorn Aaron M. 
Published: August 2022

AbstractVentx2 is an Antennapedia superfamily/NK‐like subclass homeodomain transcription factor best known for its roles in the regulation of early dorsoventral patterning duringXenopusgastrulation and in the maintenance of neural crest multipotency. In this work we characterize the spatiotemporal expression pattern ofventx2in progenitor cells of theXenopusrespiratory system epithelium. We find thatventx2is directly induced by BMP signaling in the ventral foregut prior tonkx2‐1, the earliest epithelial marker of the respiratory lineage. Functional studies demonstrate that Ventx2 regulates the number of Nkx2‐1/Sox9+ respiratory progenitor cells induced during foregut development, the timing and level of surfactant protein gene expression, and proper tracheal–esophageal separation. Our data suggest that Ventx2 regulates the balance of respiratory progenitor cell expansion and differentiation. While theventxgene family has been lost from the mouse genome during evolution, humans have retained aventx2‐like gene (VENTX). Finally, we discuss how our findings might suggest a possible function ofVENTXin human respiratory progenitor cells.
产前诊断和干预改善结节性硬化症儿童的发育和癫痫结局
Authors: 霞 王 , 一峰 丁 , 渊峰 周 , 莉斐 郁 , 水珍 周 , 艺 王 , 佶 王 
Published: August 2022

目的:评估产前诊断和早期干预是否对结节性硬化症(TSC)患儿的发育和癫痫有益。方法:这项回顾性研究来自于TSC专病队列。共招募了273例诊断明确的TSC患儿(男性138例，女性145例)，年龄在2.0–7.5岁之间，平均年龄是4.4 ± 1.5岁。这些病例均完成TSC1/TSC2基因检测，并被至少随访至2岁。通过比较是否产前诊断和是否给予预防性干预措施两组间癫痫和发育的差异来评估早期干预与早期关注对TSC患儿的益处。结果:产前诊断患儿癫痫发生率明显低于产后诊断患儿(p  = 0.027)。在产前诊断组中，预防干预亚组的癫痫发生率明显低于没有预防干预的亚组(p = 0.008)。产前诊断组在认知、语言和运动发育方面有明显的改善。在产前诊断组中，预防干预亚组在认知、语言和运动发展方面也有明显优于非预防干预组(p < 0.05)。解读 基于这项研究，我们谨慎地推测生命早期早期干预可能会降低癫痫和难治性癫痫的发生率，并改善发育结局。使用西罗莫司和氨己烯酸进行预防性干预可能会降低癫痫的发生率。当然这需要更大样本量的前瞻性随机对照试验来支持。
Spatial confounding in Bayesian species distribution modeling
Authors: Mäkinen Jussi , Numminen Elina , Niittynen Pekka , Luoto Miska , Vanhatalo Jarno 
Published: August 2022

1) Species distribution models (SDMs) are currently the main tools to derive species niche estimates and spatially explicit predictions for species geographical distribution. However, unobserved environmental conditions and ecological processes may confound the model estimates if they have direct impact on the species and, at the same time, they are correlated with the observed environmental covariates. This, so‐called spatial confounding, is a general property of spatial models and it has not been studied in the context of SDMs before.2) We examine how the estimation accuracy of SDMs depends on the type of spatial confounding. We construct two simulation studies where we alter spatial structures of the observed and unobserved covariates and the level of dependence between them. We fit generalized linear models with and without spatial random effects applying Bayesian inference and recording the bias induced to model estimates by spatial confounding. After this we examine spatial confounding also with real vegetation data from northern Norway.3) Our results show that model estimates for coarse scale covariates, such as climate covariates, are likely to be biased if a species distribution depends also on an unobserved covariate operating on a finer spatial scale. Pushing higher probability for a relatively weak and smoothly varying spatial random effect compared to the observed covariates improved the model's estimation accuracy. The improvement was independent of the actual spatial structure of the unobserved covariate.4) Our study addresses the major factors of spatial confounding in SDMs and provides a list of recommendations for pre‐inference assessment of spatial confounding and for inference‐based methods to decrease the chance of biased model estimates.
Are we passing the acceptable? Standard setting of theoretical proficiency tests for foreign‐trained dentists
Authors: Dalum Jesper , Christidis Nikolaos , Myrberg Ida Hed , Karlgren Klas , Leanderson Charlotte , Englund Gunilla Sandborgh 
Published: August 2022

AbstractIntroductionDentists educated outside the EU, EEA and Switzerland have the option to undergo proficiency testing to practice dentistry in Sweden. A standardised evidence‐based procedure for proficiency tests is crucial. This paper explores if the standard setting of the theoretical examination in the Swedish proficiency test for foreign dentists is fit to differentiate candidates who meet the acceptable standard for licensure from those who do not, by analysis of inter‐rater reliability and credibility of Angoff panels and the test's ability to differentiate candidates regarding learning outcomes and dental disciplines.Materials and MethodsIn a cohort study design, test results were collected from seven examinations during 2018–2019 (n = 316), combined with Angoff judgements and demographic data from The National Board of Health and Welfare. Intraclass correlation, Pearson correlation and linear regression were calculated.ResultsAll exams demonstrated substantial judge inter‐rater reliability using the Angoff procedure (0.65–0.82). Item difficulty predicted by the expert panels showed significant positive correlations with the item difficulty by candidate results (0.69–0.77). Candidates who did not meet the requirements for pass mark in the theoretical test revealed a significantly reduced performance overall in professional qualifications (i.e., learning outcomes) and reduced performance within dental disciplines.ConclusionsThe results indicate that a modified Angoff method is a feasible, simple, and defensible method for setting the pass mark for the theoretical examinations. The standard setting appears to differentiate candidates who do not meet the requirements of the professional qualifications of the dental degree. Adjustments could be undertaken to further discriminate for competence within single dental disciplines.
Shoulder‐Touch test to reveal incongruencies in persons with functional motor disorders
Authors: Geroin Christian , Nonnekes Jorik , Erro Roberto , Camozzi Serena , Bloem Bastiaan R. , Tinazzi Michele 
Published: August 2022

AbstractBackground and PurposeClinical experience suggests that many patients with functional motor disorders (FMD), despite reporting severe balance problems, typically do not fall frequently. This discrepancy may hint towards a functional component. Here, we explored the role of the Shoulder‐Touch test, which features a light touch on the patient's shoulders, to reveal a possible functional etiology of postural instability.MethodsWe enrolled consecutive outpatients with a definite diagnosis of FMD. Patients with Parkinson's disease (PD) or progressive supranuclear palsy (PSP) with postural instability served as controls. Each patient underwent a clinical evaluation including testing for postural instability using the retropulsion test. Patients with an abnormal retropulsion test (score ≥ 1) also received a light touch on their shoulders to explore the presence (S‐Touch+) or absence (S‐Touch−) of an incongruent, exaggerated postural response, defined as taking three or more steps to recover or a fall if not caught by the examiner.ResultsFrom a total sample of 52 FMD patients, 48 patients were recruited. Twenty‐five patients (52%) had an abnormal retropulsion test. Twelve of these 25 patients (48%) had an S‐Touch+, either because of need to take two or more steps (n = 4) or a fall if not caught by the examiner (n = 8). None of the 23 PD/PSP patients manifested S‐Touch+. The sensitivity of the S‐Touch test was 48%, whereas its specificity was 100%.ConclusionThe S‐Touch test has a high specificity, albeit with a modest sensitivity, to reveal a functional etiology of postural instability in persons with FMD.