bluuebunny/crossref_metadata_2025_split huggingface dataset:
Beyond Genes: Germline Disruption in the Etiology of Autism Spectrum Disorders
Authors: Escher Jill , Yan Wei , Rissman Emilie F. , Wang Hsiao-Lin V. , Hernandez Arturo , Corces Victor G. 
Published: October 2021

AbstractInvestigations into the etiology of autism spectrum disorders have been largely confined to two realms: variations in DNA sequence and somatic developmental exposures. Here we suggest a third route—disruption of the germline epigenome induced by exogenous toxicants during a parent’s gamete development. Similar to cases of germline mutation, these molecular perturbations may produce dysregulated transcription of brain-related genes during fetal and early development, resulting in abnormal neurobehavioral phenotypes in offspring. Many types of exposures may have these impacts, and here we discuss examples of anesthetic gases, tobacco components, synthetic steroids, and valproic acid. Alterations in parental germline could help explain some unsolved phenomena of autism, including increased prevalence, missing heritability, skewed sex ratio, and heterogeneity of neurobiology and behavior.
Late Onset of Chronic Granulomatous Disease Revealed by Paecilomyces lilacinus Cutaneous Infection
Authors: Lemaigre Clément , Suarez Felipe , Martellosio Jean-Philippe , Barbarin Cindy , Brunet Kévin , Chomel Jean Claude , Hainaut Ewa , Rammaert Blandine , Roblot France , Torregrosa-Diaz José Miguel 
Published: October 2021

AbstractChronic granulomatous disease (CGD) is an inherited immunodeficiency due to defective leukocyte NADPH responsible for recurrent infections and aberrant inflammation. Mutations in the CYBB gene are responsible for the X-linked CGD and account for approximately 70% of the cases. CGD is diagnosed during childhood in males. Female carriers may have biased X-inactivation and may present with clinical manifestations depending on the level of residual NADPH oxidase activity. We report the case of a previously asymptomatic female carrier who was diagnosed at age 67 with a skin infection with the rare fungus Paecilomyces lilacinus as the first manifestation of CGD. Dihydrorhodamine 123 (DHR) activity was below 10%. Next-generation sequencing (NGS) revealed mutations in DNMT3A, ASXL1, and STAG2 suggesting that clonal hematopoiesis could be responsible for a progressive loss of NADPH oxidase activity and the late onset of X-linked CGD in this patient. Long-term follow-up of asymptomatic carrier women seems to be essential after 50 years old.
Assessing levels, trade-offs and synergies of landscape services in the Iranian province of Qazvin: towards sustainable landscapes
Authors: Darvishi Asef , Yousefi Maryam , Dinan Naghmeh Mobarghaee , Angelstam Per 
Published: October 2021

AbstractContextEvidence-based knowledge is crucial for place-based knowledge production and learning towards sustainable landscapes through stewardship and integrated spatial planning.ObjectivesWe focus on the landscape service concept as a tool, and three fundamental challenges for its use: (1) how to monitor benefits provided by different landscapes; (2) to demonstrate trade-offs and synergies among benefits in a landscape; and (3) to discuss how to incorporate results from analyses into landscape stewardship and planning.MethodsAs a case study we chose the Iranian Qazvin province with diverse natural and anthropogenic landscapes, and top-down societal steering. Five landscape services (water yield, water regulation, pollination, actual net primary production (NPPact) and social-cultural connectivity) were assessed and compared.ResultsAll landscape services were significantly correlated. Major trade-offs and synergies among services were between NPPact and water yield and regulation. Trade-off and synergy clusters showed that landscape functions depend on both natural and anthropogenic landscape patterns and processes.ConclusionsProviding transparent data about trade-offs and synergies among landscape services can facilitate learning about which services are important among landscapes. For each of six settings we suggest action plans. We discuss the role of Iranian landscape stewardship and planning, and integrative research needs.
Ability, relevant possibilities, and the fixity of the past
Authors: Mackie Penelope 
Published: October 2021

AbstractIn several writings, John Martin Fischer has argued that those who deny a principle about abilities that he calls ‘the Fixity of the Past’ are committed to absurd conclusions concerning practical reasoning. I argue that Fischer’s ‘practical rationality’ argument does not succeed. First, Fischer’s argument may be vulnerable to the charge that it relies on an equivocation concerning the notion of an ‘accessible’ possible world. Secondly, even if Fischer’s argument can be absolved of that charge, I maintain that it can be defeated by appeal to an independently plausible principle about practical reasoning that I call ‘the Knowledge Principle’. In addition, I point out that Fischer’s own presentation of his argument is flawed by the fact that the principle that he labels ‘the Fixity of the Past’ does not, in fact, succeed in representing the intuitive idea that it is intended to capture. Instead, the debate (including Fischer’s practical rationality argument) should be recast in terms of a different (and stronger) principle, which I call ‘the Principle of Past-Limited Abilities’. The principal contribution of my paper is thus twofold: to clarify the terms of the debate about the fixity of the past, and to undermine Fischer’s ‘practical rationality’ argument for the fixity of the past.
The growth of entrepreneurial human capital: origins and development of skill variety
Authors: Krieger Alexander , Stuetzer Michael , Obschonka Martin , Salmela-Aro Katariina 
Published: October 2021

AbstractGiven that recent research on entrepreneurial behavior and success has established skill variety as a central human capital factor, researchers, educators, and policymakers have turned their interest to a deeper understanding of the formation of skill variety. Based on human capital theory and the competence growth approach in developmental psychology (highlighting long-term, age-appropriate, and cumulative skill-growth processes), we hypothesize that a broad, early variety orientation in adolescence is a developmental precursor of such entrepreneurial human capital in adulthood. This was confirmed in an analysis of prospective longitudinal data via structural equation modeling and serial mediation tests. We also find that an entrepreneurial constellation of personality traits, but not entrepreneurial parents, predicts early variety orientation, skill variety, and entrepreneurial intentions. By shedding new light on the long-term formation of entrepreneurial human capital, the results suggest that establishing and benefiting from an early variety orientation is not only an important developmental mechanism in entrepreneurial careers but gives those with an entrepreneurial personality an early head start in their vocational entrepreneurial development. Implications for future research and practice are discussed.
Environmental and health impacts of spraying COVID-19 disinfectants with associated challenges
Authors: Bhat Shakeel Ahmad , Sher Farooq , Kumar Rohitashw , Karahmet Emina , Haq Syed Anam Ul , Zafar Ayesha , Lima Eder C. 
Published: October 2021

AbstractCoronavirus refers to a group of widespread viruses. The name refers to the specific morphology of these viruses because their spikes look like a crown under an electron microscope. The outbreak of coronavirus disease 2019 (COVID-19) that has been reported in Wuhan, China, in December 2019, was proclaimed an international public health emergency (PHEIC) on 30 January 2020, and on 11 March 2020, it was declared as a pandemic (World Health Organization 2020). The official name of the virus was declared by the WHO as “COVID-19 virus”, formerly known as “2019-nCoV”, or “Wuhan Coronavirus”. The International Committee on Virus Taxonomy’s Coronavirus Research Group has identified that this virus is a form of coronavirus that caused a severe outbreak of acute respiratory syndrome in 2002–2003 (SARS). As a result, the latest severe acute respiratory syndrome has been classified as a corona virus 2 (SARS-CoV-2) pathogen by this committee. This disease spread quickly across the country and the world within the first 3 months of the outbreak and became a global pandemic. To stop COVID-19 from spreading, the governing agencies used various chemicals to disinfect different commercial spaces, streets and highways. However, people used it aggressively because of panic conditions, anxiety and unconsciousness, which can have a detrimental impact on human health and the environment. Our water bodies, soil and air have been polluted by disinfectants, forming secondary products that can be poisonous and mutagenic. In the prevention and spread of COVID-19, disinfection is crucial, but disinfection should be carried out with sufficient precautions to minimize exposure to harmful by-products. In addition, to prevent inhalation, adequate personal protective equipment should be worn and chemical usage, concentrations, ventilation in the room and application techniques should be carefully considered. In the USA, 60% of respondents said they cleaned or disinfected their homes more often than they had in the previous months. In addition to the robust use of disinfection approaches to combat COVID-19, we will explore safe preventative solutions here.
Intranasal Salvinorin A Improves Long-term Neurological Function via Immunomodulation in a Mouse Ischemic Stroke Model
Authors: Misilimu Dilidaer , Li Wei , Chen Di , Wei Pengju , Huang Yichen , Li Sicheng , Grothusen John , Gao Yanqin 
Published: October 2021

AbstractSalvinorin A (SA), a highly selective kappa opioid receptor agonist, has been shown to reduce brain infarct volume and improve neurological function after ischemic stroke. However, the underlying mechanisms have not been fully understood yet. Therefore, we explored whether SA provides neuroprotective effects by regulating the immune response after ischemic stroke both in the central nervous system (CNS) and peripheral circulation. In this study, adult male mice were subjected to transient Middle Cerebral Artery Occlusion (tMCAO) and then were treated intranasally with SA (50 μg/kg) or with the vehicle dimethyl sulfoxide (DMSO). Multiple behavioral tests were used to evaluate neurofunction. Flow cytometry and immunofluorescence staining were used to evaluate the infiltration of peripheral immune cells into the brain. The tracer cadaverine and endogenous immunoglobulin G (IgG) extravasation were used to detect blood brain barrier leakage. We observed that SA intranasal administration after ischemic stroke decreased the expression of pro-inflammatory factors in the brain. SA promoted the polarization of microglia/macrophages into a transitional phenotype and decreased the pro-inflammatory phenotype in the brain after tMCAO. Interestingly, SA treatment scarcely altered the number of peripheral immune cells but decreased the macrophage and neutrophil infiltration into the brain at 24 h after tMCAO. Furthermore, SA treatment also preserved BBB integrity, reduced long-term brain atrophy and white matter injury, as well as improved the long-term neurofunctional outcome in mice. In this study, intranasal administration of SA improved long-term neurological function via immuno-modulation and by preserving blood–brain barrier integrity in a mouse ischemic stroke model, suggesting that SA could potentially serve as an alternative treatment strategy for ischemic stroke.
Graphic Abstract
Care for Language: Etymology as a Continental Argument in Bioethics
Authors: Zwart Hub 
Published: October 2021

AbstractEmphasizing the importance of language is a key characteristic of philosophical reflection in general and of bioethics in particular. Rather than trying to eliminate the historicity and ambiguity of language, a continental approach to bioethics will make conscious use of it, for instance by closely studying the history of the key terms we employ in bioethical debates. Continental bioethics entails a focus on the historical vicissitudes of the key signifiers of the bioethical vocabulary, urging us to study the history of terms such as “bioethics,” “autonomy,” “privacy,” and “consensus.” Instead of trying to define such terms as clearly and unequivocally as possible, a continental approach rather requires us to take a step backwards, tracing the historical backdrop of the words currently in vogue. By comparing the original meanings of terms with their current meanings, and by considering important moments of transition in their history, obfuscated dimensions of meaning can be retrieved. Thus, notwithstanding a number of methodological challenges involved in etymological exercises, they may foster moral articulacy and enhance our ability to come to terms with moral dilemmas we are facing.
A short form of the Crisis in Family Systems (CRISYS) in a racially diverse sample of pregnant women
Authors: Sherlock Phillip , Shalowitz Madeleine U. , Berry Carolyn , Cella David , Blackwell Courtney K. , Cowell Whitney , Rodriguez Karen M. Reyes , Wright Rosalind J. ,   program collaborators for Environmental Influences on Child Health Outcomes
Published: October 2021

AbstractAssessing stressful life events in large-scale epidemiologic studies is challenged by the need to measure potential stressful events in a reasonably comprehensible manner balanced with burden on participants and research staff. The aim of this paper was to create a short form of the Crisis in Family Systems-Revised (CRISYS-R) plus 17 acculturation items, a measure that captures contemporary life stressors across 11 domains. Latent class analysis (LCA) was used to segment the sample of 884 women from the PRogramming of Intergenerational Stress Mechanisms (PRISM) study experiencing different patterns of exposure to stressful events and identify items from each domain that best discriminate between individuals with different patterns of stressful-event exposures (high vs. low stress exposure). The results from the LCA, in conjunction with the expert opinions provided by the original developers of the CRISYS, yielded a 24-item item short form (CRISYS-SF) with at least one question from each of the original domains. Scores on the 24-item CRISYS-SF had high correlations with scores on the 80-item CRISYS.
Stakeholder participation in sustainability assessment of non-wicked problems: The case of a future seaweed industry in Sweden
Authors: Potting José , Thomas Jean-Baptiste E. , Gröndahl Fredrik 
Published: October 2021

AbstractAcceptance by, and cooperation with relevant stakeholders in developing new sustainability initiatives when they are generally perceived as positive, is one of the keys for successful implementation of such new sustainability initiatives later on. It is remarkable, however, that ample literature exists about involving stakeholders in research projects focusing on problems with diverging views (controversy) around facts and values (wicked problems), but there is very little literature addressing whether and how to involve relevant stakeholders in case of initiatives where diverging norms and values do not play a (substantial) role, like in sustainability assessment for a future seaweed industry. This perspectives paper addresses that gap, and explores how to design such sustainability assessment, illustrated by how stakeholder interaction influenced the assessment and its results for a future seaweed industry in Sweden, followed by a discussion whether and how a similar approach may benefit sustainability assessment of other non-wicked sustainability initiatives.
Effect of a Behavioural Intervention for Adoption and Maintenance of a Physically Active Lifestyle on Psychological Well-Being and Quality of Life in Patients with Type 2 Diabetes: The IDES_2 Randomized Clinical Trial
Authors: Nicolucci Antonio , Haxhi Jonida , D’Errico Valeria , Sacchetti Massimo , Orlando Giorgio , Cardelli Patrizia , Vitale Martina , Bollanti Lucilla , Conti Francesco , Zanuso Silvano , Lucisano Giuseppe , Balducci Stefano , Pugliese Giuseppe ,   for the Italian Diabetes and Exercise Study 2 (IDES_2) Investigators, Pugliese Giuseppe , Balducci Stefano , Sacchetti Massimo , Zanuso Silvano , Cardelli Patrizia , Nicolucci Antonio , Pugliese Giuseppe , Ribaudo Maria Cristina , Alessi Elena , Vitale Martina , Cirrito Tiziana , Bollanti Lucilla , Di Biase Nicolina , La Saracina Filomena , Balducci Stefano , Haxhi Mario Ranuzzi Jonida , D’Errico Valeria , Sacchetti Massimo , Orlando Giorgio , Milo Luca , Milo Roberto , Balducci Gianluca , Spinelli Enza 
Published: October 2021

Abstract
Background
Psychological well-being and quality of life (QoL) are important outcomes of lifestyle interventions, as a positive impact may favour long-term maintenance of behaviour change.

Objective
This study investigated the effect of a behavioural intervention for adopting and maintaining an active lifestyle on psychological well-being and health-related QoL in individuals with type 2 diabetes.

Methods
Three hundred physically inactive and sedentary patients were randomized 1:1 to receive 1 month’s theoretical and practical counselling once a year (intervention group, INT) or standard care (control group, CON) for 3 years. Psychological well-being and QoL, assessed using the World Health Organization (WHO)-5 and the 36-Item Short Form (SF-36) questionnaire, respectively, were pre-specified secondary endpoints. The primary endpoint was sustained behaviour change, as assessed by accelerometer-based measurement of physical activity (PA) and sedentary time.

Results
WHO-5 and SF-36 physical and mental component summary (PCS and MCS) scores increased progressively in the INT group and decreased in the CON group, resulting in significant between-group differences (WHO-5: mean difference 7.35 (95% confidence interval (CI) 3.15–11.55), P = 0.0007; PCS 4.20 (95% CI 2.25–6.15), P < 0.0001; MCS 3.04 (95% CI 1.09–4.99), P = 0.0025). Percentage of participants with likely depression decreased in the INT group and increased in the CON group. PA volume changes were independently associated with WHO-5 changes, which were significantly higher in participants who accumulated > 150 min·wk−1 of moderate-to-vigorous intensity PA versus those who did not (13.06 (95% CI 7.51–18.61), P < 0.0001), whereas no relationship was detected for QoL.

Conclusion
A counselling intervention that was effective in promoting a sustained change in PA and sedentary behaviour significantly improved psychological well-being and QoL.

Trial Registration
ClinicalTrials.gov; NCT01600937; 10 October 2012.
Stem Cells in Clinical Trials for Pelvic Floor Disorders: a Systematic Literature Review
Authors: Manodoro Stefano , Frigerio Matteo , Barba Marta , Bosio Sara , de Vitis Luigi Antonio , Marconi Anna Maria 
Published: October 2021

AbstractPelvic floor disorders (PFDs) include a series of conditions that can be poorly tolerated, negatively affecting the quality of life. Current treatment options show unsatisfactory results and new ones are therefore needed. Stem cell (SC) therapy might be an alternative treatment strategy. This systematic review aims to define the state of art of SC therapy for PFDs in clinical trials, by systematically reviewing the available evidence. A systematic search strategy was conducted up to November 7, 2020, in PubMed, Scopus, Cochrane Library, and ISI Web of Science. Preclinical studies on animal models were not considered. Studies were included when the patients were affected by any PFDs and cells were isolated, cultured, and characterized as SC. The study protocol was registered in PROSPERO (CRD42020216551). A total of 11 prospective clinical studies were included in the final assessment, specifically 7 single-arm studies dealing with SC therapy for stress urinary incontinence and 4 with anal incontinence. Among the latter, there were two prospective, single-arm studies and two randomized controlled trials. No papers concerning the use of SC for prolapse repair were retrieved. Due to the great heterogeneity, data pooling was not possible. Stem cell injection resulted in a safe procedure, with few mild adverse side effects, mostly related to harvesting sites. However, a clear beneficial impact of SC treatment for the treatment of pelvic floor disorders could not be demonstrated. Further larger targeted studies with control arms are needed before any conclusions can be made.
Clitoral Priapism in a Transgender Male
Authors: Kusko Rebecca E. , Singhal Esha , Kauffman Robert P. 
Published: October 2021

Abstract

Introduction
Clitoral priapism due to venous outflow obstruction is a rare event and medical emergency. Androgen-induced clitoromegaly in transgender men has not been previously identified as a risk factor.

Aims
Advance current knowledge on identification and treatment of clitoral priapism in the transgender male.

Methods
A 32 year-old presurgical transgender male underwent gender-affirming laparoscopic total hysterectomy and bilateral salpingo-oöphorectomy without incident. Seven days postop, he developed progressive and painful clitoral engorgement that was persistent. Examination and imaging were consistent with clitoral priapism.

Results
Clitoral priapism was treated with adrenergic drugs (imipramine and pseudoephedrine) with rapid resolution of symptoms.

Conclusion
Clitoral priapism is a rare phenomenon usually associated with use of a psychotropic medication. Whether clitoromegaly secondary to androgen administration in transgender men is a risk factor for this rare medical emergency is unknown. Prompt recognition and treatment is paramount.
ON TRANSCENDENTAL CONTINUED FRACTIONS IN FIELDS OF FORMAL POWER SERIES OVER FINITE FIELDS
Authors: CAN BÜŞRA , KEKEÇ GÜLCAN 
Published: October 2021

AbstractIn the field of formal power series over a finite field, we prove a result which enables us to construct explicit examples of$U_{m}$-numbers by using continued fraction expansions of algebraic formal power series of degree$m>1$.
Quantitative analysis of tegmen bone mineral density in obese and non-obese patients
Authors: Holmes S , Geimadi A , Mamilly A , Hamiter M , Cuellar H , Mankekar G 
Published: October 2021

AbstractBackgroundCertain factors have been linked to lateral skull base demineralisation or erosion, which may predispose to spontaneous cerebrospinal fluid leak. There are relatively few quantitative reports of skull base changes in patient populations.MethodA novel refined measurement algorithm for quantification of tegmen bone mineral density was developed, and bone mineral density between obese and non-obese patient groups was compared. Computed tomography scans were analysed by three blinded reviewers, and tegmen bone mineral densities were compared.ResultsThere were 23 patients in the obese group and 27 matched controls in the non-obese group. Inter-rater reliability was ‘strong’ to ‘near complete’ (κ = 0.75–0.86). No differences in tegmen bone mineral density were found between the groups (p = 0.64). The number of active blood pressure medications correlated positively with lateral skull base bone mineral density.ConclusionA novel, refined, quantitative measurement algorithm for the assessment of tegmen bone mineral density was developed and validated. Obesity was not found to significantly affect tegmen bone mineral density.