bluuebunny/crossref_metadata_2025_split huggingface dataset:
Different degree of loss‐of‐function among four missense mutations in the EDAR gene responsible for autosomal recessive hypohidrotic ectodermal dysplasia may be associated with the phenotypic severity
Authors: Yagi Sasagu , Yasuno Shuichiro , Ansai Osamu , Hayashi Ryota , Shimomura Yutaka 
Published: October 2022

AbstractHypohidrotic ectodermal dysplasia is a rare condition characterized by hypohidrosis, hypodontia, and hypotrichosis. The disease can show X‐linked recessive, autosomal dominant or autosomal recessive inheritance trait. Of these, the autosomal forms are caused by mutations in either EDAR or EDARADD. To date, the underlying pathomechanisms or genotype–phenotype correlations for autosomal forms have not completely been disclosed. In this study, we performed a series of in vitro studies for four missense mutations in the death domain of EDAR protein: p.R358Q, p.G382S, p.I388T, and p.T403M. The results revealed that p.R358Q‐ and p.T403M‐mutant EDAR showed different expression patterns from wild‐type EDAR in both western blots and immunostainings. NF‐κB reporter assays demonstrated that all the mutant EDAR showed reduced activation of NF‐κB, but the reduction by p.G382S‐ and p.I388T‐mutant EDAR was moderate. Co‐immunoprecipitation assays showed that p.R358Q‐ and p.T403M‐mutant EDAR did not bind with EDARADD at all, whereas p.G382S‐ and p.I388T‐mutant EDAR maintained the affinity to some extent. Furthermore, we demonstrated that all the mutant EDAR proteins analyzed aberrantly bound with TRAF6. Sum of the data suggest that the degree of loss‐of‐function is different among the mutant EDAR proteins, which may be associated with the severity of the disease.
Risk factors of admission in school children with severe atopic dermatitis
Authors: Miyaji Yumiko , Yamamoto‐Hanada Kiwako , Fukuie Tatsuki , Narita Masami , Ohya Yukihiro 
Published: October 2022

AbstractThere are no data about risk factor of admission and long‐term (>1 year) prognosis of proactive therapy using topical corticosteroids (TCSs) in school children. This study aims to identify the prognosis of school children over 3 years treated with proactive therapy after hospitalization due to atopic dermatitis (AD). This retrospective cohort study used electronic medical record data of schoolchildren (aged 5–19 years) with a long‐term admission program for AD at the National Center for Child Health and Development from January 2008 to December 2013. Long‐term prognosis at 1 and 3 years after discharge were retrospectively identified from their medical records. The most common exacerbation factor was poor adherence (51.8%). At 1 and 3 years after hospitalization, 87.3% and 74.3%, respectively, of the children used TCSs on their trunk and limbs less than twice a week. Investigator's Global Assessment of AD scores were ≤1 for 81.0%and 75.7% at 1 and 3 years after discharge, respectively. AD was well‐controlled during follow‐up. Rehospitalization due to AD was observed in 11.8% children. Poor adherence was biggest risk factor for admission. Children with severe AD could achieve well‐controlled AD with a long‐term admission AD program and home‐based proactive therapy using TCSs for 3 years after discharge. Maintaining good adherence for AD treatment is required to prevent exacerbation and improve future prognosis in school children. However, we need to engage for the children who required rehospitalization.
Skin rash associated with combined cytotoxic chemotherapy and immunotherapy for cancer: A retrospective single‐center case series
Authors: Yahiro Chisato , Takai Toshihiro , Nakatani Shoko , Tanaka Nanako , Goto Aya 
Published: October 2022

AbstractIn recent years, the development of combination therapies with immune checkpoint inhibitors (ICIs) and cytotoxic anticancer drugs has radically changed the management of diverse malignancies and significantly improved patient outcomes. Several clinical trials have shown that skin rash caused by combination therapy with ICIs and cytotoxic drugs may be more frequent and severe than that developing after administration of ICIs alone or cytotoxic drug monotherapy. However, most reports provide little information on severity, treatment, post‐diagnosis course, and recurrence of rashes on drug rechallenges. We aimed to describe the experience of skin rashes developing within 2 weeks from the first administration of combination therapy with ICIs and cytotoxic drugs in 11 patients visiting our dermatology department. This study included seven men and four women, and the patients' median age was 52 years. The primary disease was non‐small‐cell lung cancer in eight patients, cervical cancer in two patients, and esophageal cancer in one patient. Nine patients had a maculopapular rash and two patients developed erythema multiforme‐like eruptions. The skin rash was often accompanied by extracutaneous symptoms, such as fever (n = 9), mucositis (n = 4), and liver dysfunction (n = 2). In all cases, the symptoms improved with topical steroid therapy alone, with no patients exhibiting severe symptoms requiring systemic steroids or immunosuppressive agents. In addition, when the causative drugs were re‐administered after recovery from the rash, only two patients relapsed with accompanying systemic symptoms, and all patients except one were able to continue treatment using the same drug regimen. Although it was suggested that the rash caused by the combination therapy of ICIs and cytotoxic drugs may be more prominent than that caused by each agent alone, comprehensive judgment, including histopathological examination, may indicate the feasibility of continuing the treatment regimen for cancer.
Path towards home: Exploring pathways to the development of a sense of home in residential care settings in China
Authors: Wang Qi , Zhang Yunxiang , Zhan Heying 
Published: October 2022

AbstractObjectiveTo understand different pathways leading to older adults' sense of home in residential care environments in China.MethodsThis research adopted the qualitative comparative analysis method to analyse data from 29 interviews. Qualitative comparative analysis is an analytic strategy to systematically analyse potential causal pathways in small‐to‐medium‐sized qualitative datasets.ResultsFindings uncovered four different pathways that older adults followed in their process of constructing a sense of home in residential care environments in China.ConclusionsThis study adds to the body of literature by analysing how a sense of home in residential care environments can be achieved with pathways that contain a combination of sets of necessary, substitutive and absent conditions. It concludes that even though older adults may not live at home, they may achieve a sense of home by the joint effort at institutional, social and personal levels that facilitates older adults to find a sense of home.
Peripapillary retinal nerve fibre layer thickness and macular ganglion cell layer volume in association with motor and cognitive outcomes in 11‐year‐old children born very preterm
Authors: Lehtonen Tuomo , Vesti Eija , Haataja Leena , Nyman Anna , Uusitalo Karoliina , Leinonen Markku T. , Setänen Sirkku ,   the PIPARI Study Group
Published: October 2022

AbstractPurposeThe purpose of the study was to study the association between retinal parameters and motor and cognitive outcomes in children born very preterm.MethodsThis study is part of a prospective cohort study of very preterm infants (birth weight ≤ 1500 grams/gestational age < 32 weeks). At 11 years of age, the ophthalmological assessment included a retinal optical coherence tomography (OCT) examination of the peripapillary retinal nerve fibre layer (PRNFL) and the macular ganglion cell layer (GCL). The motor performance was assessed with the Movement Assessment Battery for Children—Second Edition (Movement ABC‐2), and the cognitive outcome with the Wechsler Intelligence Scale for Children—Fourth Edition (WISC‐IV).ResultsA total of 141 children were included. The mean (SD) average PRNFL was 95 μm (10.2 μm). The mean (SD) macular GCL volume was 0.34 mm3 (0.03 mm3). Higher PRNFL thickness associated with higher percentiles for total scores in the motor assessment (b = 0.5, 95% CI 0.1–0.8, p = 0.01) and higher macular GCL volume with higher scores in the cognitive assessment (b = 1.4, 95% CI 0.5–2.3, p = 0.002), also when adjusted for gender, birth weight z‐score (birth weight in relation to gestational age) and major brain pathology at term.ConclusionThe associations between higher average PRNFL thickness and better motor performance as well as higher macular GCL volume and better cognitive performance refer to more generalized changes in the brain of 11‐year‐old children born very preterm. Retinal OCT examinations might provide a deeper insight than mere eyesight in long‐term neurodevelopmental follow‐up of children born very preterm.
COVID‐19 increased in Italian children in the autumn and winter 2021–2022 period when Omicron was the dominant variant
Authors: Curatola Antonietta , Ferretti Serena , Graglia Benedetta , Capossela Lavinia , Menchinelli Giulia , Fiori Barbara , Chiaretti Antonio , Sanguinetti Maurizio , Gatto Antonio 
Published: October 2022

AbstractAimWe examined the prevalence of the severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2) in children during the autumn and winter season from 1 September 2021 to 30 January 2022 and compared it with the same period in 2020–2021.MethodsThis study was carried out int the paediatric emergency department (PED) of a tertiary Italian hospital. We compared the clinical and demographical features of all children who presented during the two study periods and tested positive for SARS‐CoV‐2.ResultsDuring the 2021–2022 autumn and winter season 5813 children presented to the PED, 19.0% were tested for SARS‐CoV‐2 and 133 (12.0%) of those tested positive. In 2020–2021, 2914 presented to the PED, 12.3% were tested, and 30 (8.3%) of those tested positive. There were no statistically significant differences in clinical severity during the two study periods, despite a higher percentage of neurological symptoms in 2020–2021. Of the SARS‐CoV‐2‐positive cases, 29/133 (21.8%) were hospitalised during the 2021–2022 season and 10/30 (33.3%) during the previous one. Only 3/163 children required intensive care.ConclusionThe greater spread of SARS‐CoV‐2 was probably due to the greater transmissibility of the Omicron variant, but the symptoms were mild and only 3 children required intensive care.
It is time for optimal distinctiveness: Corporate social responsibility engagement under dynamic competitive effects during the COVID‐19 crisis
Authors: Yi Liu , Ruikun Duan 
Published: October 2022

AbstractFirms tend to seek optimal distinctiveness when choosing CSR engagement timing. Building on the perspectives of optimal distinctiveness and competitive dynamics, this paper explains why firms' CSR engagement timing toward a certain event is affected by dynamic competitive effects. That is, to achieve optimal distinctiveness, focal firms pay more attention to their main competitors that are similar in market, size and resources. We apply a discrete‐time survival analysis of 869 Chinese listed firms' CSR engagement action toward the COVID‐19 pandemic during the first half of 2020. The results support the mechanism that when a highly similar competitor engages in CSR activities, it raises the probability that the focal firm engages itself beyond levels based solely on its own characteristics and common time‐dependent factors.
Periodontal disease in people with a history of psychosis: Results from the UK biobank population‐based study
Authors: Kang Jing , Palmier‐Claus Jasper , Wu Jianhua , Shiers David , Larvin Harriet , Doran Tim , Aggarwal Vishal R. 
Published: October 2022

AbstractObjectivesTo test the hypotheses that: (1) Prevalence of periodontal disease would be higher in people with a history of psychosis when compared to the general population and (2) Demographic, life‐style related factors and co‐morbid medical conditions would predict periodontal disease in people experiencing psychosis.MethodsThe authors performed cross‐sectional analysis of baseline data from the UK Biobank study (2007–2010), identifying cases with psychosis using clinical diagnosis, antipsychotic medication, and self‐report. Demographic (age, gender, ethnicity, socioeconomic status), lifestyle‐related(BMI, blood pressure, smoking and alcohol intake, physical activity) and physical co‐morbidities (cancer, cardiovascular, respiratory, inflammatory disease and metabolic conditions) were included as potential risk factors for periodontal disease among people with a history of psychosis using logistic regression analyses. The analysis sample included 502,505 participants.ResultsRisk of periodontal disease was higher in people with psychosis, regardless of how cases were identified. Patients with a clinical diagnosis had the highest proportion of periodontal disease compared to the general population (21.3% vs. 14.8%, prevalence ratio 1.40, 95% CI: 1.26–1.56). Older and female cases were more likely to experience periodontal disease. Lifestyle factors (smoking) and comorbidities (cardiovascular, cancer or respiratory disease) were associated with periodontal disease among people with a history of psychosis.ConclusionsThe findings suggest that periodontal disease is more common in people with a history of psychosis, compared to the general population. Prevention and early diagnosis of periodontal disease should be a priority for oral health promotion programmes, which should also address modifiable risk factors like smoking which also contribute to co‐morbid systemic disease.
Dilated choroidal vascular channels in pachychoroid neovasculopathy
Authors: Hung Jia‐Horung , Yang Chung‐May , Yang Chang‐Hao , Ho Tzyy‐Chang , Lai Tzo‐Ting , Hsieh Yi‐Ting 
Published: October 2022

AbstractBackgroundTo elucidate the pattern of the choroidal vasculature in exudative pachychoroid neovasculopathy (PNV) and its correlation with the clinical course and treatment outcomes.MethodsThe retrospective study included consecutive patients in National Taiwan University Hospital between 2014 and 2020 who fulfilled the criteria for exudative PNV defined as active type 1 macular neovascularization (MNV) on optical coherence tomography angiography (OCTA) and with leakage on fluorescein angiography (FA) or indocyanine green angiography (ICGA) associated with pachychoroid features. The corrected distance visual acuity (CDVA), FA, ICGA, and OCT images obtained by Optovue (Optovue Inc, Freemont CA, USA) spectral domain OCT were evaluated at baseline and various time points during the 12‐month treatment period. The correlations between the choroidal vascular patterns, specifically those with or without dilated choroidal vascular channels (DCVC) revealed by ICGA, and baseline characteristics and treatment outcomes were evaluated using multiple regression models.ResultsThe study enrolled 34 eyes of 31 patients. The average age was 59.0 ± 9.3 years, and 20 participants were men. ICGA revealed DCVCs in 21 eyes, while the remaining 13 eyes did not have DCVCs. At baseline, DCVC group was older (p = 0.03) and had a longer duration of visual symptoms (p = 0.02), with a higher vessel density (defined as the percentage of the measured area occupied by flow area) of MNV (p = 0.04), higher proportion of ellipsoid zone disruption (p = 0.01), and poorer CDVA (p = 0.03). After the 12‐month treatment period, the frequency of requirement of anti‐VEGF injections (p < 0.01) was higher, and the risk for CDVA <20/40 was higher (adjusted OR: 5.29, 95% CI: 1.24–22.48, p = 0.02) in eyes with DCVCs.ConclusionsFor PNV, eyes with DCVCs were associated with higher vessel density of macular neovascularization and poorer CDVA at baseline, and had poorer visual and anatomical outcomes although more anti‐VEGF injections were given.
Two decades of stem cell transplantation in patients with Fanconi anemia: Analysis of factors affecting transplant outcomes
Authors: Fink Orly , Even‐Or Ehud , Avni Batia , Grisariu Sigal , Zaidman Irina , Schejter Yael Dinur , NaserEddin Adeeb , Najajreh Mohammad , Stepensky Polina 
Published: October 2022

AbstractAllogeneic hematopoietic stem cell transplantation (HSCT) is currently the only curative treatment for the hematological complications of patients with Fanconi anemia (FA). Over the last two decades, HSCT outcomes have improved dramatically following the development of regimens tailored for FA patients. In this study, we analyzed genetic, clinical, and transplant data of 41 patients with FA who underwent HSCT at Hadassah Medical Center between November 1996 and September 2020. Overall survival (OS) was 82.9% with a median follow‐up time of 2.11‐years (95% CI, .48–16.56). Thirteen patients (31.7%) developed acute graft‐versus‐host disease (GVHD), three of them with grades 3‐4. Nine patients developed chronic GVHD, five had extensive disease. Twelve patients (29.3%) developed stable mixed‐chimerism with complete resolution of bone marrow failure (BMF); none of them had acute nor chronic GVHD. Significantly higher GVHD rates were observed in transplants from peripheral blood stem cell grafts as compared to other stem cell sources (p = .002 for acute and p = .004 for chronic GVHD). Outcome parameters were comparable between HSCT from matched‐sibling (n = 20) to other donors (n = 21), including survival rates (p = .1), time to engraftment (p = .69 and p = .14 for neutrophil and platelet engraftment time, respectively), chimerism status (p = .36 and p = .83 for full‐donor and mixed chimerism, respectively), and GVHD prevalence (p = 1). Our results demonstrate the vast improvements in HSCT outcomes of patients with FA, narrowing the gap between matched‐sibling versus alternative donor transplantations. Our data identifies factors that may significantly affect transplant outcomes such as graft source and chimerism status.
Disturbance indicator values for European plants
Authors: Midolo Gabriele , Herben Tomáš , Axmanová Irena , Marcenò Corrado , Pätsch Ricarda , Bruelheide Helge , Karger Dirk Nikolaus , Aćić Svetlana , Bergamini Ariel , Bergmeier Erwin , Biurrun Idoia , Bonari Gianmaria , Čarni Andraž , Chiarucci Alessandro , De Sanctis Michele , Demina Olga , Dengler Jürgen , Dziuba Tetiana , Fanelli Giuliano , Garbolino Emmanuel , Giusso del Galdo Gianpietro , Goral Friedemann , Güler Behlül , Hinojos‐Mendoza Guillermo , Jansen Florian , Jiménez‐Alfaro Borja , Lengyel Attila , Lenoir Jonathan , Pérez‐Haase Aaron , Pielech Remigiusz , Prokhorov Vadim , Rašomavičius Valerijus , Ruprecht Eszter , Rūsiņa Solvita , Šilc Urban , Škvorc Željko , Stančić Zvjezdana , Tatarenko Irina , Chytrý Milan 
Published: October 2022

AbstractMotivationIndicator values are numerical values used to characterize the ecological niches of species and to estimate their occurrence along gradients. Indicator values on climatic and edaphic niches of plant species have received considerable attention in ecological research, whereas data on the optimal positioning of species along disturbance gradients are less developed. Here, we present a new data set of disturbance indicator values identifying optima along gradients of natural and anthropogenic disturbance for 6382 vascular plant species based on the analysis of 736,366 European vegetation plots and using expert‐based characterization of disturbance regimes in 236 habitat types. The indicator values presented here are crucial for integrating disturbance niche optima into large‐scale vegetation analyses and macroecological studies.Main types of variables containedWe set up five main continuous indicator values for European vascular plants: disturbance severity, disturbance frequency, mowing frequency, grazing pressure and soil disturbance. The first two indicators are provided separately for the whole community and for the herb layer. We calculated the values as the average of expert‐based estimates of disturbance values in all habitat types where a species occurs, weighted by the number of plots in which the species occurs within a given habitat type.Spatial location and grainEurope. Vegetation plots ranging in size from 1 to 1000 m2.Time period and grainVegetation plots mostly sampled between 1956 and 2013 (= 5th and 95th quantiles of the sampling year, respectively).Major taxa and level of measurementSpecies‐level indicator values for vascular plants.Software formatcsv file.
Predicting inpatient mortality in patients with inflammatory bowel disease: A machine learning approach
Authors: Charilaou Paris , Mohapatra Sonmoon , Doukas Sotirios , Kohli Maanit , Radadiya Dhruvil , Devani Kalpit , Broder Arkady , Elemento Olivier , Lukin Dana J , Battat Robert 
Published: October 2022

AbstractBackground and AimData are lacking on predicting inpatient mortality (IM) in patients admitted for inflammatory bowel disease (IBD). IM is a critical outcome; however, difficulty in its prediction exists due to infrequent occurrence. We assessed IM predictors and developed a predictive model for IM using machine‐learning (ML).MethodsUsing the National Inpatient Sample (NIS) database (2005–2017), we extracted adults admitted for IBD. After ML‐guided predictor selection, we trained and internally validated multiple algorithms, targeting minimum sensitivity and positive likelihood ratio (+LR) ≥ 80% and ≥ 3, respectively. Diagnostic odds ratio (DOR) compared algorithm performance. The best performing algorithm was additionally trained and validated for an IBD‐related surgery sub‐cohort. External validation was done using NIS 2018.ResultsIn 398 426 adult IBD admissions, IM was 0.32% overall, and 0.87% among the surgical cohort (n = 40 784). Increasing age, ulcerative colitis, IBD‐related surgery, pneumonia, chronic lung disease, acute kidney injury, malnutrition, frailty, heart failure, blood transfusion, sepsis/septic shock and thromboembolism were associated with increased IM. The QLattice algorithm, provided the highest performance model (+LR: 3.2, 95% CI 3.0–3.3; area‐under‐curve [AUC]:0.87, 85% sensitivity, 73% specificity), distinguishing IM patients by 15.6‐fold when comparing high to low‐risk patients. The surgical cohort model (+LR: 8.5, AUC: 0.94, 85% sensitivity, 90% specificity), distinguished IM patients by 49‐fold. Both models performed excellently in external validation. An online calculator (https://clinicalc.ai/im‐ibd/) was developed allowing bedside model predictions.ConclusionsAn online prediction‐model calculator captured > 80% IM cases during IBD‐related admissions, with high discriminatory effectiveness. This allows for risk stratification and provides a basis for assessing interventions to reduce mortality in high‐risk patients.