bluuebunny/crossref_metadata_2025_split huggingface dataset:
A homozygous frame‐shift variant in PROSER1 is associated with developmental delay, hypotonia, genitourinary malformations, and distinctive facial features
Authors: Salah Azza , Almannai Mohammed , Al Ojaimi Mode , Radefeldt Mandy , Gulati Nishtha , Iqbal Maria , Alawbathani Salem , Al‐Ali Ruslan , Beetz Christian , El‐Hattab Ayman W. 
Published: March 2022

AbstractWe report four children from three related families who presented with a similar phenotype characterized by developmental delay, hypotonia, seizures, failure‐to‐thrive, strabismus, drooling, recurrent otitis media, hearing impairment, and genitourinary malformations. They also shared common facial features including arched eyebrows, prominent eyes, broad nasal bridge, low‐hanging columella, open mouth, thick lower lip, protruding tongue, large low‐set ears, and parietal bossing. Exome sequencing for affected individuals revealed a homozygous frame‐shift variant, c.1833del; p.(Thr612Glnfs*22), in PROSER1 which encodes the proline and serine rich protein 1 (PROSER1). PROSER1 has recently been found to be part of the histone methyltransferases KMT2C/KMT2D complexes. PROSER1 stabilizes TET2, a member of the TET family of DNA demethylases which is involved in recruiting the enhancer‐associated KMT2C/KMT2D complexes and mediating DNA demethylation, activating gene expression. Therefore, PROSER1 may play vital and potentially general roles in gene regulation, consistent with the wide phenotypic spectrum observed in the individuals presented here. The consistent phenotype, the loss‐of‐function predicted from the frame‐shift, the co‐segregation of the phenotype in our large pedigree, the vital role of PROSER1 in gene regulation, and the association of related genes with neurodevelopmental disorders argue for the loss of PROSER1 to be the cause for a novel recognizable syndrome.
Why are you allowed to go to school on your own? Exploring children's voices on independent mobility
Authors: Legorburu Idoia , Idoiaga Mondragon Nahia , Alonso Israel , Berasategi Naiara 
Published: March 2022

AbstractThis study aims to analyse 1002 children's and adolescent's reasons for going to school alone or accompanied and to explore how parents influence their choice. The findings revealed that children who could go to school alone feel that their parents trust them more. Moreover, children who live close to school are more likely to commute autonomously and those who do so feel their environment is safer. Finally, there are significant gender differences in autonomous travel to school, largely due to parental influence. In conclusion, there is a real need to work with children and families to develop targeted interventions to support the normalisation of children's autonomous walking and to address the fears of parents.
Dragging Anthropology Towards a Just and Egalitarian Future
Authors: Maskovsky Jeff 
Published: March 2022

AbstractI propose a dialogue between new abolitionist approaches and black feminist theory on the one hand and anticapitalist critical urban social theory on the other. This dialogue has great potential to advance approaches that unhide the death dealing logics that shape city‐making and also to identify and amplify the emancipatory potentialities and forms of cultural, social, economic, and political improvisation that can lead us to more positive futures.
The impact of COVID‐19 upon the delivery of exercise services within cystic fibrosis clinics in the United Kingdom
Authors: Tomlinson Owen W. , Saynor Zoe L. , Stevens Daniel , Urquhart Don S. , Williams Craig A. 
Published: March 2022

AbstractObjectivesThe COVID‐19 pandemic has resulted in unprecedent changes to clinical practice, and as the impact upon delivery of exercise services for people with cystic fibrosis (CF) in the United Kingdom was unknown, this was characterised via a national survey.MethodsAn electronic survey was distributed to healthcare professionals involved in the exercise management of CF via established professional networks.ResultsIn total, 31 CF centres participated. Findings included significant reductions in exercise testing and widespread adaptation to deliver exercise training using telehealth methods. Promisingly, 71% stated that they would continue using virtual methods of engaging patients in future practice.ConclusionThese findings highlight adaptation to the COVID‐19 pandemic and the need to develop sustainable and standardised telehealth services to manage patients moving forwards.
Ambulance attendance for substance and/or alcohol use in a pandemic: Interrupted time series analysis of incidents
Authors: Mason Rachael , Roberts Amanda , Spaight Robert , Shaw Debbie , Whitley Gregory Adam , Hogue Todd E. , Siriwardena Aloysius Niroshan , Rogers Jim , Law Graham R. 
Published: March 2022

AbstractIntroductionThe ambulance attendance for substance and/or alcohol use in a pandemic (ASAP) study explores incidents during the COVID‐19 lockdown in the East Midlands region of the United Kingdom (23 March–4 July 2020).MethodRetrospective cross‐sectional count per day of ambulance attendances from the East Midlands Ambulance Service Trust. Ambulance attendances relating to alcohol or other drug use in the year prior, during lockdown and weeks following, were examined using interrupted time series analysis by patient demographics and geographical location.ResultsA total of 36 104 records were identified (53.7% male, 84.5% ethnicity classified as White, mean age 38.4 years). A significant drop in the number of attendances per day at the start of lockdown (−25.24, confidence interval − 38.16, −12.32) was observed, followed by a gradual increase during the ongoing lockdown period (0.36, confidence interval 0.23, 0.46). Similar patterns were found across genders, age groups 16–64 and urban/rural locations.Discussion and ConclusionThe pattern of ambulance attendances for alcohol or other drug use changed during the COVID‐19 lockdown period. Lockdown significantly affected the use of ambulances for incidents involving alcohol or other drug use, impacting on health‐care services. Further research into hazardous use of alcohol or other drugs during the lockdown periods is needed to inform policy, planning and public health initiatives.
Neural correlates of distinct levels of predatory threat in dorsal periaqueductal grey neurons
Authors: Bindi Ricardo P. , Maia Ricardo G. O. , Pibiri Francesca , Baldo Marcus Vinicius C. , Poulter Steven L. , Lever Colin , Canteras Newton S. 
Published: March 2022

AbstractThe dorsal periaqueductal grey (PAG) is an important site for integrating predatory threats. However, it remains unclear whether predator‐related activation in PAG primarily reflects threat itself and thus can distinguish between various degrees of threat, or rather reflects threat‐oriented behaviours, with the PAG potentially orchestrating different types of defensive repertoire. To address this issue, we performed extracellular recording of dorsal PAG neurons in freely behaving rats and examined neuronal and behavioural responses to stimulus conditions with distinct levels of predatory threat. Animals were sequentially exposed to a nonthreatening stimulus familiar environment (exposure to habituated environment) and to a novel nonthreatening stimulus (i.e., a toy animal—plush) and to conditions with high (exposure to a live cat), intermediate (exposure to the environment just visited by the cat, with remnant predator scent), and low (exposure on the following day to the predatory context) levels of predatory threat. To test for contributions of both threat stimuli and behaviour to changes in firing rate, we applied a Poisson generalized linear model regression, using the different predator stimulus conditions and defensive repertoires as predictor variables. Analysis revealed that the different predator stimulus conditions were more predictive of changes in firing rate (primarily threat‐induced increases) than the different defensive repertoires. Thus, the dorsal PAG may code for different levels of predatory threat, more than it directly orchestrates distinct threat‐oriented behaviours. The present results open interesting perspectives to investigate the role of the dorsal PAG in mediating primal emotional and cognitive responses to fear‐inducing stimuli.
Evolution of prudent predation in complex food webs
Authors: Gutiérrez Al‐Khudhairy Orestes U. , Rossberg Axel G. 
Published: March 2022

AbstractPrudent predators catch sufficient prey to sustain their populations but not as much as to undermine their populations’ survival. The idea that predators evolve to be prudent has been dismissed in the 1970s, but the arguments invoked then are untenable in the light of modern evolution theory. The evolution of prudent predation has repeatedly been demonstrated in two‐species predator–prey metacommunity models. However, the vigorous population fluctuations that these models predict are not widely observed. Here we show that in complex model food webs prudent predation evolves as a result of consumer‐mediated (‘apparent’) competitive exclusion of resources, which disadvantages aggressive consumers and does not generate such fluctuations. We make testable predictions for empirical signatures of this mechanism and its outcomes. Then we discuss how these predictions are borne out across freshwater, marine and terrestrial ecosystems. Demonstrating explanatory power of evolved prudent predation well beyond the question of predator–prey coexistence, the predicted signatures explain unexpected declines of invasive alien species, the shape of stock–recruitment relations of fish, and the clearance rates of pelagic consumers across the latitudinal gradient and 15 orders of magnitude in body mass. Specific research to further test this theory is proposed.
Seasonal shifts from plant diversity to consumer control of grassland productivity
Authors: Zaret Max M. , Kuhs Molly A. , Anderson Jonathan C. , Seabloom Eric W. , Borer Elizabeth T. , Kinkel Linda L. 
Published: March 2022

AbstractPlant biodiversity and consumers are important mediators of energy and carbon fluxes in grasslands, but their effects on within‐season variation of plant biomass production are poorly understood. Here we measure variation in control of plant biomass by consumers and plant diversity throughout the growing season and their impact on plant biomass phenology. To do this, we analysed 5 years of biweekly biomass measures (NDVI) in an experiment manipulating plant species richness and three consumer groups (foliar fungi, soil fungi and arthropods). Positive plant diversity effects on biomass were greatest early in the growing season, whereas the foliar fungicide and insecticide treatments increased biomass most late in the season. Additionally, diverse plots and plots containing foliar fungi reached maximum biomass almost a month earlier than monocultures and plots treated with foliar fungicide, demonstrating the dynamic and interactive roles that biodiversity and consumers play in regulating biomass production through the growing season.
Auditing governable space—A study of place‐based accountability in England
Authors: Ferry Laurence , Midgley Henry , Murphie Aileen , Sandford Mark 
Published: March 2022

AbstractThe governance of territories has become increasingly fragmented and complex, challenging the accountability arrangements for “governable spaces.” Tension between central and local governments is a perennial feature of their relationship, but few analyses have explored the implications of this tension for accountability relationships. This article assesses policy initiatives within England aimed at increasing accountability in localities, by establishing governable spaces that include territorializing, mediating, adjudicating, and subjectivizing. During the 2010s, the UK government sought to introduce a form of place‐based accountability within the context of reduced central government funding to English local authorities. This meant that local government faced new forms of accountability while adapting to considerable financial shocks. Accounting methods—assessing what phenomena can and should be governed—underpin audit and orthodox concepts of accountability in the United Kingdom. These have driven a narrow finance‐focused narrative of local audit and local accountability. However, we also argue that developments in England in the 2010s have undermined political accountability in the localities, because they have worked against critical components within it for making governable space auditable: interpretation of data, judgments on service quality and the impact of cross‐public sector relationships on local authorities’ “decision space.”
Present status and future directions: Root resorption
Authors: Patel Shanon , Saberi Navid , Pimental Tiago , Teng Peng‐Hui 
Published: March 2022

AbstractRoot resorption is the loss of dental hard tissue because of odontoclastic action. In permanent teeth, it is undesirable and pathological in nature. Root resorption may occur on the inner aspect of the root canal (internal root resorption) or on the outer aspect of the root (external root resorption). Regardless of its location, root resorption is irreversible, and may result in discomfort for the patient, requires management and/or, in some cases, results in the premature loss of the affected tooth. Root resorption is often challenging to accurately diagnose and manage. The aim of this narrative review is to present the relevant literature on the aetiology, pathogenesis, diagnosis and management, as well as discuss the future directions of diagnosis and management of root resorption.
DNA methylation and miRNA expression in colon adenomas compared with matched normal colon mucosa and carcinomas
Authors: Gebrekiristos Mezgebe , Melson Joshua , Jiang Alice , Buckingham Lela 
Published: March 2022

AbstractDysregulation of DNA methylation patterns and non‐coding RNA, including miRNAs, has been implicated in colon cancer, and these changes may occur early in the development of carcinoma. In this study, the role of epigenetics as early changes in colon tumorigenesis was examined through paired sample analysis of patient‐matched normal, adenoma and carcinoma samples. Global methylation was assessed by genomic 5‐methyl cytosine (5‐mC) and long interspersed nuclear element‐1 (LINE‐1) promoter methylation by pyrosequencing. KRAS mutations were also assessed by pyrosequencing. Expression of miRNA, specifically, two microRNA genes—miR‐200a and let‐7c—was analysed using RT‐qPCR. Differences in global methylation in adenomas were not observed, compared with normal tissue. However, LINE‐1 methylation was decreased in adenomas (p = .056) and carcinomas (p = .011) compared with normal tissue. Expressions of miRNA, miR‐200a and let‐7c were significantly higher in adenomas than normal tissues (p = .008 and p = .045 respectively). Thus the significant changes in LINE‐1 methylation and microRNA expression in precancerous lesions support an early role for epigenetic changes in the carcinogenic process. Epigenetic characteristics in adenomas may provide potential diagnostic and prognostic therapeutic targets early in cancer development at the adenoma stage.
Porocarcinoma: an epidemiological, clinical, and dermoscopic 20‐year study
Authors: De Giorgi Vincenzo , Silvestri Flavia , Savarese Imma , Venturi Federico , Scarfì Federica , Trane Luciana , Bellerba Federica , Zuccaro Biancamaria , Maio Vincenza , Massi Daniela , Gandini Sara 
Published: March 2022

AbstractBackgroundPorocarcinoma (PC) is a rare cutaneous adnexal tumor with a variable metastatic potential. Given the paucity of data, guidelines and specific recommendations for PC are not yet well‐established. In this study, we evaluate the disease‐specific characteristics and outcome of this rare and often underestimated tumor.Materials and methodA retrospective study of the epidemiological, clinical, and dermoscopic characteristics among cases of histopathologically diagnosed PC, collected from the database of two skin cancer clinics in Italy (Firenze, Pistoia) from 2000 to 2020, was conducted.ResultsAmong the 52 patients with 53 tumors, 31 were men (59.6%) and 21 were women (40.4%) with an age range of 49–96 years (median age 82 years). The most common locations were the head/neck region in men (34% in men vs. 17% in women) and the lower limb in women (17% in women vs. 9% in men). Forty‐eight cases (91%) underwent local excision. Of these patients, two (4%) experienced local recurrence, and one (2%) developed a second PC on a different anatomical site 1 month after the primary tumor's excision. Lymph node metastases were present in three cases (6%). Two of them have been treated surgically with adjuvant radiotherapy (both are disease‐free after a 2‐year follow‐up period), whereas the third case developed visceral metastases followed by PC‐related death.ConclusionsThis study, with 52 patients with 53 tumors covering a follow‐up period of more than 5 years, shows a less aggressive behavior of PC with 4% local recurrence, 6% nodal metastases, and 2% mortality.
High levels of FSH before puberty are associated with increased risk of metabolic syndrome during pubertal transition
Authors: Aydin Banu Kucukemre , Stenlid Rasmus , Ciba Iris , Cerenius Sara Y. , Dahlbom Marie , Bergsten Peter , Nergårdh Ricard , Forslund Anders 
Published: March 2022

SummaryBackgroundDuring perimenopause, the rise in serum follicle‐stimulating hormone (FSH) is associated with increased adiposity, insulin resistance (IR), and metabolic syndrome (MetS). However, data for the pubertal period, which is characterized by increasing FSH levels and changing body composition, are limited.ObjectivesTo investigate the relationships between FSH and anthropometric changes, IR markers, and development of MetS in the peripubertal period.MethodsUppsala Longitudinal Study of Childhood Obesity (ULSCO) is an ongoing study that aims to understand the factors contributing to childhood obesity and the development of obesity‐related diseases. We analysed the subset of participants who were prepubertal at the first visit (n = 95, 77 with obesity). Mean follow‐up time was 3.0 ± 1.4 years.ResultsHigher serum FSH levels at the first visit were associated with an increased likelihood of elevation in body mass index (BMI SDS) (p = 0.025, OR = 16.10) and having MetS (p = 0.044, OR = 4.67) at the follow‐up. We observed nonlinear relationships between varying serum FSH levels and markers of adiposity and IR, especially in girls. At the first visit, when girls were prepubertal, FSH was negatively associated with BMI (β = −0.491, p = 0.005) and positively associated with sex hormone‐binding globulin (SHBG) (β = 0.625, p = 0.002). With the progression of puberty, negative associations between BMI and SHBG disappeared while FSH became positively associated with HOMA‐IR (β = 0.678, p = 0.025) and fasting insulin (β = 0.668, p = 0.027).ConclusionsHigher serum FSH levels in prepubertal children were associated with an increased risk of MetS development during pubertal transition. Along with nonlinear associations between varying serum FSH levels and IR markers, our results might imply a relationship between FSH and IR of puberty.
The roles of interleukin‐1 receptor accessory protein in certain inflammatory conditions
Authors: Zarezadeh Mehrabadi Ali , Aghamohamadi Nazanin , Khoshmirsafa Majid , Aghamajidi Azin , Pilehforoshha Mohammad , Massoumi Ramin , Falak Reza 
Published: March 2022

AbstractInterleukin‐1 receptor accessory protein (IL‐1RAcP) is a member of the immunoglobulin superfamily proteins consisting of soluble and membranous isoforms. IL‐1RAcP plays an essential role in the signaling of the IL‐1 family cytokines such as IL‐1, IL‐33 and IL‐36, as well as tyrosine kinases FLT3 and C‐Kit. IL‐1RAcP generally initiates inflammatory signaling pathway through the recruitment of signaling mediators, including MYD88 and IRAK. Chronic inflammation following prolonged signaling of cytokine receptors is a critical process in the pathogenesis of many inflammatory disorders, including autoimmunity, obesity, psoriasis, type 1 diabetes, endometriosis, preeclampsia and Alzheimer's disease. Recently IL‐1RAcP aberrant signaling has been considered to play a central role in the pathogenesis of these chronic inflammatory diseases. Targeting IL‐1RAcP signaling pathway that was recently considered in clinical trials related to malignancies also indicates its potential as therapeutic target for the inflammatory and autoimmune diseases. This review summarizes the molecular structure, components associated with IL‐1RAcP signaling pathways, and their involvement in the pathogenesis of different inflammatory diseases. We will also discuss the effect of IL‐1RAcP inhibition for treatment proposes.
Patient‐dependent risk factors for wound infection after skin surgery: A systematic review and meta‐analysis
Authors: Schlager Justin Gabriel , Hartmann Daniela , Wallmichrath Jens , Ruiz San Jose Virginia , Patzer Kathrin , French Lars Emil , Kendziora Benjamin 
Published: March 2022

AbstractPostoperative wound infection in dermatologic surgery causes impaired wound healing, poor cosmetic outcome and increased morbidity. Patients with a high‐risk profile may benefit from perioperative antibiotic prophylaxis. The objective of this systematic review was to identify risk factors for surgical site infection after dermatologic surgery. In this article, we report findings on patient‐dependent risk factors. The literature search included MEDLINE, EMBASE, CENTRAL and trial registers. We performed meta‐analysis, if studies reported sufficient data to calculate risk ratios with 95% confidence intervals. Study quality was assessed according to the Newcastle‐Ottawa‐Scale. Seventeen observational studies that analysed 31213 surgical wounds were eligible for inclusion. Fourteen studies qualified for meta‐analysis. Nine studies showed good, three fair and five poor methodological quality. The reported incidence of surgical site infection ranged from 0.96% to 8.70%. Meta‐analysis yielded that male gender and immunosuppression were significantly associated with higher infection rates. There was a tendency towards a higher infection risk for patients with diabetes, without statistical significance. Meta‐analysis did not show different infection rates after excision of squamous cell carcinoma or basal cell carcinoma, but studies were substantially heterogenous. There was no significant association between risk for wound infection and smoking, age over 60 years, oral anti‐aggregation or anti‐coagulation or excision of malignant melanoma. In conclusion, the risk for surgical site infection in dermatologic surgery is low. Infection rates were increased significantly in male as well as immunosuppressed patients and non‐significantly in diabetics.
Relaxation behavior of PbZrO3‐SrTiO3 thin film for enhancing energy storage performances
Authors: Duan Yinuo , Shangguan Duandan , Wang Chao , Bai Yu , Zhang Fan , Wu Yusheng , Song Guihong , Wang Zhan Jie 
Published: March 2022

AbstractIn recent years, antiferroelectric materials have attracted significant attention as energy storage materials in pulsed power systems. In this study, (1‐x)PbZrO3‐xSrTiO3 (PZO‐STO) antiferroelectric films were prepared, and the effects of the STO content on the microstructure and energy storage performance of the thin films were investigated in detail. The results showed that when the PZO/STO ratio was near the morphotropic phase boundary, the long‐range PZO‐STO‐ordered structure could be broken by the paraelectric nanograins generated at the grain boundary. The number of nanoparticles increased gradually with an increase in the STO content, thereby leading to the microstructure transformation of the thin films from antiferroelectric to relaxation ferroelectric. When the STO content was 20%, the as‐prepared thin film had a maximum energy storage density of 15.26 J/cm3, which was 117.14% higher than that of the pure PZO thin film.