bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clinical findings in individuals with duplication of genes associated with X‐linked intellectual disability
Authors: Sahajpal Nikhil , Ziats Catherine , Chaubey Alka , DuPont Barbara R. , Abidi Fatima , Schwartz Charles E. , Stevenson Roger E. 
Published: October 2023

AbstractDuplication of all genes associated with X‐linked intellectual disability (XLID) have been reported but the majority of the duplications include more than one XLID gene. It is exceptional for whole XLID gene duplications to cause the same phenotype as sequence variants or deletions of the same gene. Duplication of PLP1, the gene associated with Pelizaeus‐Merzbacher syndrome, is the most notable duplication of this type. More commonly, duplication of XLID genes results in very different phenotypes than sequence alterations or deletions. Duplication of MECP2 is widely recognized as a duplication of this type, but a number of others exist. The phenotypes associated with gene duplications are often milder than those caused by deletions and sequence variants. Among some duplications that are clinically significant, marked skewing of X‐inactivation in female carriers has been observed. This report describes the phenotypic consequences of duplication of 22 individual XLID genes, of which 10 are described for the first time.
Impact of ‘‘high in” front‐of‐package nutrition labeling on food choices: Evidence from a grocery shopping experiment
Authors: Lee Yu Na , Stortz Laura , von Massow Mike , Kimmerer Christopher 
Published: October 2023

AbstractThis study investigates the ex‐ante effects of the front‐of‐package (FoP) nutrition labeling for food products high in saturated fat, sugar, and/or sodium, which is a new regulation recently announced by Health Canada to combat obesity. The Canadian food industry has until January 1, 2026, to comply with the new regulations. To examine the ex‐ante effects of this policy, an incentivized experiment is conducted in a lab that replicates a grocery store. The results at the product level indicate a significant decrease in the probability of choosing a product with a “high in” label compared to those without “high in” labels. Basket‐level results demonstrate that FoP labeling is significantly associated with a lower quantity share and dollar value share of products high in one of the mentioned nutrients selected in a grocery basket, as well as fewer grams of sugar and sodium in a grocery basket. Furthermore, the study reveals that individuals with higher educational attainment, a risk‐averse nature, and a lower level of self‐reported nutrition knowledge tend to react more to the labeling. The insights from eye‐tracking data further support these results, revealing that product choices are deterred by a fixation on “high in” labels. This study contributes to an improved understanding of the pathway in which labeling schemes influence food choices.
Tax incentives and corporate innovation: Evidence from China's value‐added tax reform
Authors: Wang Jun , Liu Congcong , Xie Zhuan , Shen Guangjun 
Published: October 2023

AbstractInnovation is crucial for technological progress and economic development. Using the value‐added tax (VAT) reform in China as a policy shock, this study explores whether tax incentives are beneficial in promoting corporate innovation. We find that the VAT reform has a significant positive impact on corporate innovation, and the finding holds under a series of robustness checks. Mechanism analysis suggests that the VAT reform promotes firms' innovation activities mainly by alleviating financing constraints and amplifying research and development intensity. This study offers policy implications for using tax policies to stimulate corporate innovation.
Enhanced reactive inhibition in adolescents with non‐suicidal self‐injury disorder
Authors: Mirabella Giovanni , Mancini Christian , Pacifici Susanna , Guerrini Daiana , Terrinoni Arianna 
Published: October 2023

AbstractAimTo investigate whether the core of the pathophysiology underlying non‐suicidal self‐injury (NSSI) relates to poor impulse control due to impaired motor inhibition (i.e. the ability to inhibit a preplanned motor response).MethodWe conducted a case–control study to compare the proficiency of two domains of motor inhibition, that is, reactive and proactive inhibition, by giving the reaching arm version of the stop‐signal task and a go‐only task to 28 drug‐naive adolescents with NSSI disorder (NSSID) (mean age [SD] 15 years 8 months [1 year 4 months]; three males and 25 females) and 28 typically developing adolescents (mean age 15 years 8 months [1 year 5 months]; three males and 25 females).ResultsReactive inhibition, as determined by the duration of the stop‐signal reaction time, was enhanced in adolescents with NSSID compared to typically developing controls (194.2 [22.5 ms] vs 217.5 [17.3 ms], p < 0.001). By contrast, proactive inhibition was similar in both groups. Lastly, the level of impulsivity, assessed using the Barratt Impulsiveness Scale Version 11, did not differ between typically developing adolescents and adolescents with NSSID. However, adolescents with NSSID were more impulsive than controls in a subscale of the UPPS‐P Impulsive Behavior Scale.InterpretationNSSID is not driven by heightened motor impulsivity. Instead, adolescents with NSSID exhibited greater proficiency in reactive inhibition, a proxy for motor impulsivity. We suggest that the enhancement of reactive inhibition strengthens action control, allowing adolescents to suppress their self‐protection instinct and perform NSSI behaviours.
Diversity in the United Kingdom: Quantification for higher education in comparison to the general population
Authors: Di Miceli Mathieu 
Published: October 2023

AbstractDiversity in the United Kingdom is regularly quantified through Census data. The latest figures (2021) for England and Wales indicate that 82% of the population identifies as white, 51% are females, 17.7%–22.3% are disabled, 18.2% hold no qualifications and 51.7% of households are deprived in at least one dimension. Furthermore, the median age in England and Wales is 40. All of these figures vary significantly across local geographical areas. Diversity in Higher Education (HE) is also monitored yearly by the Office for Students. The latest figures (2020/2021) indicate that 68.4% of entrants are under 21 years old, 56.5% are females, 14.8% report a disability and 21.8% are categorized as severely deprived. Some differences were observed between these figures and those from previous years. The current study aims to highlight how diversity in HE has evolved since 2010 and how the current landscape can illustrate significant differences between courses. Furthermore, comparisons with the general population are also measured in an attempt to describe potential bias in HE, together with new avenues that should be explored to level the HE field in regard to diversity. Our results indicate that access to HE needs to be improved for males, while strong discrepancies were observed between disciplines. Ethnic diversity remains high throughout the HE sector, although subject‐specific biases were noted. An increase in students from the most deprived areas has been found, although it was not the case for all subjects within the sector. Finally, reported disabilities are on the rise, especially regarding mental health, warranting additional support for affected students. These findings are discussed and put into context. To conclude, HE providers might need to collegially address subject‐specific discrepancies.
Association between substantia nigra degeneration and functional outcome in patients with basal ganglia infarction
Authors: Lee Hyungwoo , Lee Kijeong , Kim Young Dae , Nam Hyo Suk , Lee Hye Sun , Cho Sunghee , Heo Ji Hoe 
Published: October 2023

AbstractBackground and purposeCerebral infarction in the basal ganglia may cause secondary and delayed neuronal degeneration in the substantia nigra (SN). However, the clinical significance of SN degeneration remains poorly understood.MethodsThis retrospective observational study included patients with acute ischemic stroke in the basal ganglia on initial diffusion‐weighted imaging who underwent follow‐up diffusion‐weighted imaging between 4 and 30 days after symptom onset. SN degeneration was defined as a hyperintensity lesion in the SN observed on diffusion‐weighted imaging. We compared functional outcomes at 3 months between patients with and without SN degeneration. A poor outcome was defined as a score of 3–6 (functional dependence or death) on the modified Rankin Scale.ResultsOf 350 patients with basal ganglia infarction (median age = 74.0 years, 53.7% male), 125 (35.7%) had SN degeneration. The proportion of functional dependence or death was 79.2% (99/125 patients) in patients with SN degeneration, which was significantly higher than that in those without SN degeneration (56.4%, 127/225 patients, p < 0.001). SN degeneration was more frequent in patients with functional dependence or death (99/226 patients, 43.8%) than in those with functional independence (26/124 patients, 21.0%, p < 0.001). Multivariable logistic regression analysis showed a significant association between SN degeneration and functional dependence or death (odds ratio = 2.91, 95% confidence interval = 1.17–7.21, p = 0.021).ConclusionsThe study showed that patients with degeneration of SN were associated with functional dependence or death at 3 months, suggesting that secondary degeneration is a predictor of poor stroke outcomes and a potential therapeutic target.
Soil organic carbon stocks in European croplands and grasslands: How much have we lost in the past decade?
Authors: De Rosa Daniele , Ballabio Cristiano , Lugato Emanuele , Fasiolo Matteo , Jones Arwyn , Panagos Panos 
Published: October 2023

AbstractThe EU Soil Strategy 2030 aims to increase soil organic carbon (SOC) in agricultural land to enhance soil health and support biodiversity as well as to offset greenhouse gas emissions through soil carbon sequestration. Therefore, the quantification of current SOC stocks and the spatial identification of the main drivers of SOC changes is paramount in the preparation of agricultural policies aimed at enhancing the resilience of agricultural systems in the EU. In this context, changes of SOC stocks (Δ SOCs) for the EU + UK between 2009 and 2018 were estimated by fitting a quantile generalized additive model (qGAM) on data obtained from the revisited points of the Land Use/Land Cover Area Frame Survey (LUCAS) performed in 2009, 2015 and 2018. The analysis of the partial effects derived from the fitted qGAM model shows that land use and land use change observed in the 2009, 2015 and 2018 LUCAS campaigns (i.e. continuous grassland [GGG] or cropland [CCC], conversion grassland to cropland (GGC or GCC) and vice versa [CGG or CCG]) was one of the main drivers of SOC changes. The CCC was the factor that contributed to the lowest negative change on Δ SOC with an estimated partial effect of −0.04 ± 0.01 g C kg−1 year−1, while the GGG the highest positive change with an estimated partial effect of 0.49 ± 0.02 g C kg−1 year−1. This confirms the C sequestration potential of converting cropland to grassland. However, it is important to consider that local soil and environmental conditions may either diminish or enhance the grassland's positive effect on soil C storage. In the EU + UK, the estimated current (2018) topsoil (0–20 cm) SOC stock in agricultural land below 1000 m a.s.l was 9.3 Gt, with a Δ SOC of −0.75% in the period 2009–2018. The highest estimated SOC losses were concentrated in central‐northern countries, while marginal losses were observed in the southeast.
Effects of cigarette smoking and secondhand smoke exposure on physical frailty development among community‐dwelling older adults in Japan: Evidence from a 10‐year population‐based cohort study
Authors: Chu Wei‐Min , Nishita Yukiko , Tange Chikako , Zhang Shu , Furuya Kanae , Shimokata Hiroshi , Lee Meng‐Chih , Arai Hidenori , Otsuka Rei 
Published: October 2023

AimThis study explored longitudinally the relationship between smoking and secondhand smoke and the incidence of physical frailty in community‐dwelling Japanese older people.MethodsData collected from the National Institute for Longevity Sciences‐Longitudinal Study of Aging database from 2002 to 2012 (third to seventh wave) among older adults aged ≥65 years were analyzed. Participants with physical frailty at baseline, as determined by the Cardiovascular Health Study criteria, missing data or who failed to attend follow ups were excluded. Data on current cigarette smoking and secondhand smoke exposure were collected from the third wave results. The generalized estimating equation model was used to examine the longitudinal relationships between smoking, secondhand smoke and subsequent frailty.ResultsThe final analysis included 540 participants with a mean age of 71.4 years (standard deviation 4.6). The generalized estimating equation analysis showed that, compared with non‐smokers, smokers were at significant risk of physical frailty (odds ratio [OR] 2.39, 95% confidence interval [CI] 1.21–4.74) after adjustment for multiple covariates; especially men (OR 3.75, 95% CI 1.76–8.00) and older adults aged ≥75 years (OR 4.12, 95% CI 1.43–11.87). Participants exposed to both smoking and secondhand smoke had a higher risk of physical frailty (OR 3.47, 95% CI 1.56–7.73) than non‐smokers without secondhand smoke exposure. Smokers exposed to secondhand smoke were associated with more risk of physical frailty (OR 9.03, 95% CI 2.42–33.77) compared with smokers without secondhand smoke exposure.ConclusionsSmoking, especially when combined with secondhand smoke exposure, is associated with future physical frailty among older adults. Geriatr Gerontol Int 2024; 24: 142–149.
Edentulism among diabetic patients compared to non‐diabetic controls: A systematic review and meta‐analysis
Authors: Žiūkaitė Laura , Weijdijk Lotte P. M. , Tang Jennifer , Slot Dagmar Else , van der Weijden G. A. (Fridus) 
Published: October 2023

AbstractObjectiveThe purpose of this paper is to systematically and critically appraise the available scientific evidence concerning the prevalence of edentulism among diabetic patients compared to non‐diabetic people.MethodsMEDLINE‐PubMed and Cochrane‐CENTRAL databases were comprehensively searched up to April 2023 to identify appropriate studies. The inclusion criteria were observational studies conducted in human subjects ≥18 years of age with the primary aim of investigating the prevalence of edentulism among diabetic patients. Based on the extracted data, a meta‐analysis was performed. Recommendations based on the body of evidence were formulated using the GRADE approach.ResultsIndependent screening of 2085 unique titles and abstracts revealed seven publications that met the eligibility criteria. Study size ranged from 293 to 15,943 participants. Data from all seven studies were suitable for meta‐analysis. Overall, 8.3% of the studied population was edentulous. The weighted mean prevalence of edentulism among diabetic and non‐diabetics was 14.0% and 7.1%, respectively. The overall odds ratio for diabetic patients to be edentulous as compared to non‐diabetics was 2.39 (95% CI [1.73, 3.28], p < 0.00001).ConclusionThere appears to be moderate certainty that the risk of being edentulous for diabetic patients compared to non‐diabetic people is significant, but the odds ratio is estimated to be small.
Notoginsenoside R1 promotes osteogenic differentiation of human bone marrow mesenchymal stem cells via ERα/GSK‐3β/β‐catenin signalling pathway
Authors: Lu Wei , Shi Yuanxin , Qian Minglei 
Published: October 2023

AbstractHuman bone marrow mesenchymal stem cells (hBMSCs) are attractive therapeutic agents for bone tissue regeneration owing to their osteogenic differentiation potential. Notoginsenoside R1 (NGR1) is a novel phytoestrogen with diverse pharmacological activities. Here, we probed whether NGR1 has an effect on the osteogenic differentiation of hBMSCs. EdU, CCK‐8 and Transwell assays were used to measure proliferation and migration of hBMSCs after treatment with different doses of NGR1. hBMSCs were treated with osteogenic differentiation induction medium for osteogenesis. Alizarin red S (ARS) and alkaline phosphatase (ALP) staining were used to measure mineralized nodule formation and ALP activity in hBMSCs, respectively. ICI 182780, an antagonist of oestrogen receptor alpha (ERα) was used to inhibit ERα expression. The results showed that NGR1 enhanced hBMSC proliferation and migration. NGR1 increased ALP activity and mineralized nodule formation as well as promoting ALP, RUNX2 and OCN expression in hBMSCs. NGR1 enhanced ERα expression and promoted GSK‐3β/β‐catenin signal transduction in hBMSCs. ICI 182780 reversed NGR1‐mediated activation of the GSK‐3β/β‐catenin signalling and promoted an effect on hBMSC behaviour. Thus NGR1 promotes proliferation, migration and osteogenic differentiation of hBMSCs via the ERα/GSK‐3β/β‐catenin signalling pathway.
High‐risk adverse drug reactions: consideration of limited dialysis therapy for toxic epidermal necrolysis (TEN)
Authors: Xie Guozhen , Pincelli Thais , Hickson LaTonya J. , el‐Azhary Rokea , Sokumbi Olayemi 
Published: October 2023

AbstractToxic epidermal necrolysis (TEN) is a rare but often lethal drug reaction involving the skin. Treatment is often centered around suppurative care, and the mortality rate remains unacceptably high, although the clinical and epidemiological features of TEN have been well documented for decades. Recent studies have placed an emphasis on certain medications in the pathophysiology of severe TEN, and our colleagues previously reported several cases of clinical improvement in TEN patients following hemodialysis. Here, we discuss the major considerations for initiating dialysis in TEN patients. By doing so, we hope to encourage others to explore this potential avenue for treating TEN, one of the most serious medical emergencies in the field of dermatology.
In vitro comparison of simulated intrapelvic pressure in an artificial kidney model during retrograde intrarenal surgery among various single‐use ureteroscopes
Authors: Yamashita Shimpei , Tanioku Tadashi , Deguchi Ryusuke , Iwahashi Yuya , Higuchi Masatoshi , Maruyama Yohei , Inoue Takaaki , Kikkawa Kazuro , Kohjimoto Yasuo , Kawamata Tomoyuki , Hara Isao 
Published: October 2023

ObjectivesThis study compares intrapelvic pressure (IPP) during retrograde intrarenal surgery with various single‐use flexible ureteroscopes (f‐URS) in an artificial kidney model.MethodsWe created an artificial kidney model with a pressure sensor using a bladder evacuation device. The model was completely closed and the only backflow was on the side of the ureteroscope inside the ureteral access sheath (UAS). We tested five single‐use f‐URSs (LithoVue, Wiscope, PU3022A, PU3033A, and AXIS) with six different types of UAS (9.5/11.5–14/16 Fr). Using the automatic irrigation system, 30 s of irrigation was performed at various pressures (40–180 mmHg) and steady‐state IPP was recorded. IPP was compared between the five single‐use f‐URSs. IPP cutoff value was determined at 30 mmHg. The diameter of the endoscope tip and the curved and shaft parts were also measured and recorded.ResultsThe diameters of all parts were significantly different between single‐use f‐URSs. The maximum IPP tended to be higher in ureteroscopes with larger diameters of the proximal parts (curved part/shaft part). In LithoVue and Uscope PU3022A f‐URSs, the maximum IPP did not exceed 30 mmHg when UAS ≥12/14 Fr was used. In AXIS and Wiscope f‐URSs, it did not exceed the cutoff value when the UAS ≥11/13 Fr was used. In Uscope PU3033A f‐URS, it did not exceed 30 mmHg when the UAS ≥10/12 Fr was used.ConclusionsMaximum IPP tended to be higher in f‐URSs with larger diameters of the proximal part and the appropriate size of the UAS differed between various single‐use f‐URSs.
Impact of cystic fibrosis multidisciplinary virtual clinics on patient experience, time commitments and costs
Authors: Bell Jody M. , Dwyer Tiffany J. , Cunich Michelle , Dentice Ruth L. , Hutchings Owen , Jo Helen E. , Lau Edmund M. , Lee Wai Y. , Nolan Samantha A. , Munoz Phillip , Raffan Freya , Shah Karishma , Shaw Miranda , Taylor Nicole A. , Visser Simone K. , Yozghatlian Veronica A. , Wong Keith K. H. , Sivam Sheila 
Published: October 2023

AbstractBackground and AimsThe experience of outpatient care may differ for select patient groups. This prospective study evaluates the adult patient experience of multidisciplinary outpatient cystic fibrosis (CF) care with videoconferencing through telehealth compared with face‐to‐face care the year prior.MethodsPeople with CF without a lung transplant were recruited. Patient‐reported outcomes were obtained at commencement and 12 months into the study, reflecting both their face‐to‐face and telehealth through videoconferencing experience, respectively. Three patient cohorts were analysed: (i) participants with a regional residence, (ii) participants with a nonregional including metropolitan residence and (iii) participants with colonised multiresistant microbiota.ResultsSeventy‐four patients were enrolled in the study (mean age, 37 ± 11 years; 50% male; mean forced expiratory volume in the first second of expiration, 60% [standard deviation, 23]) between February 2020 and May 2021. No differences between models were observed in the participants' rating of the health care team, general and mental health rating, and their confidence in handling treatment plans at home. No between‐group differences in the Cystic Fibrosis Questionnaire – Revised (CFQ‐R) were observed. Travel duration and the cost of attending a clinic was significantly reduced, particularly for the regional group (4 h, AU$108 per clinic; P < 0.05). A total of 93% respondents preferred to continue with a hybrid approach.ConclusionIn this pilot study, participants' experience of care and quality of life were no different with face‐to‐face and virtual care between the groups. Time and cost‐savings, particularly for patients living in regional areas, were observed. Most participants preferred to continue with a hybrid model for outpatient care.