bluuebunny/crossref_metadata_2025_split huggingface dataset:
Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease
Authors: Germain Dominique P. , Levade Thierry , Hachulla Eric , Knebelmann Bertrand , Lacombe Didier , Seguin Vanessa Leguy , Nguyen Karine , Noël Esther , Rabès Jean‐Pierre 
Published: December 2021

AbstractFabry disease (FD) is an X‐linked genetic disease due to pathogenic variants in GLA. The phenotype varies depending on the GLA variant, alpha‐galactosidase residual activity, patient's age and gender and, for females, X chromosome inactivation. Over 1000 variants have been identified, many through screening protocols more susceptible to disclose non‐pathogenic variants or variants of unknown significance (VUS). This, together with the non‐specificity of some FD symptoms, challenges physicians attempting to interpret GLA variants. The traditional way to interpreting pathogenicity is based on a combined approach using allele frequencies, genomic databases, global and disease‐specific clinical databases, and in silico tools proposed by the American College of Medical Genetics and Genomics. Here, a panel of FD specialists convened to study how expertise may compare with the traditional approach. Several GLA VUS, highly controversial in the literature (p.Ser126Gly, p.Ala143Thr, p.Asp313Tyr), were re‐analyzed through reviews of patients' charts. The same was done for pathogenic GLA variants with some specificities. Our data suggest that input of geneticists and physicians with wide expertise in disease phenotypes, prevalence, inheritance, biomarkers, alleles frequencies, disease‐specific databases, and literature greatly contribute to a more accurate interpretation of the pathogenicity of variants, bringing a significant additional value over the traditional approach.
Early first‐line treatment response and subsequent disability worsening in relapsing–remitting multiple sclerosis
Authors: Koch Marcus W. , Mostert Jop , Repovic Pavle , Bowen James D. , Wolinsky Jerry S. , Lublin Fred D. , Strijbis Eva , Cutter Gary 
Published: December 2021

AbstractBackground and purposeTreatment success in relapsing–remitting multiple sclerosis (RRMS) is generally determined using relapse frequency and magnetic resonance imaging (MRI) activity in the first 6 or 12 months on treatment. The association of these definitions of short‐term treatment success with disability worsening and disease activity in the longer term is unclear. In this study, we investigated risk factors associated with early first‐line treatment failure in RRMS, and the association of early treatment failure with subsequent disability worsening or "no evidence of disease activity" (NEDA‐3) status.MethodsWe used data from CombiRx (clinicaltrials.gov identifier NCT00211887) to investigate risk factors associated with early treatment failure, and the association of early treatment failure at 6 and 12 months with subsequent disability worsening or NEDA‐3 at 36 months.ResultsCombiRx included 1008 treatment‐naïve participants with RRMS, who were randomly assigned to treatment with glatiramer acetate, interferon beta, or the combination of both. Early treatment failure at 6 or 12 months by several definitions was associated with NEDA‐3 failure at 36 months, but not with subsequent disability worsening at 36 months. Expanded Disability Status Scale (EDSS) was the only baseline characteristic associated with the risk of disability worsening at 36 months. Approximately 70% of NEDA‐3 failures occurred due to MRI activity, and <10% occurred due to EDSS worsening.ConclusionsOur investigation shows that current definitions of early treatment failure in RRMS are unrelated to patient‐relevant disability worsening at 36 months of follow‐up. Further research into useful definitions of treatment success and failure in RRMS is needed.
Predictors of willingness to communicate in a second language (L2 WTC): Toward an integrated L2 WTC model from the socio‐psychological perspective
Authors: Wei Xiaobao , Xu Qingyi 
Published: December 2021

AbstractThis study takes the initiative to use structural equation modeling to verify an integrated willingness to communicate in an L2 (L2 WTC) model proposed from the socio‐psychological perspective in the China's English as a second language context. A total of 1007 college freshmen (Male: n = 745; Female: n = 262) from eight universities in mainland China completed six adapted versions of questionnaires concerning L2 learners’ perception of teachers’ emotional support, the ideal L2 self, the ought‐to L2 self, the acculturation to L2 culture, L2 anxiety, and L2 WTC. It was found that the perceived teachers’ emotional support had a direct effect on L2 WTC and an indirect effect through the ideal L2 self, the ought‐to L2 self and the acculturation to L2 culture. It was also found that, although both the ideal L2 self and the ought‐to L2 self were positively related to L2 WTC, the total impact from the ideal L2 self on L2 WTC was much stronger than that of the ought‐to L2 self, with the ideal L2 self contributing more to L2 WTC through the acculturation to L2 culture while the ought‐to L2 self exerting less impact on L2 WTC by arousing higher level of L2 anxiety. Furthermore, this study added to the current literature by showing that the acculturation to L2 culture, which was significantly predicted by the perceived teachers’ emotional support and the L2 ideal self, enhanced the learners’ L2 WTC directly and indirectly by arousing lower level of L2 anxiety. Based on these results, pedagogical significance and implications for further research were suggested.
Concentrating sulphur‐containing flavour from Toona sinensis shoots using corn oil with and without aqueous dispersion
Authors: Wang Zhaogai , Jiang Pengfei , Zhao Lili , Shi Guanying , Le Zhang , Wang Xiaomin , Wang Xuzeng , Zhu Wenkui , Prinyawiwatkul Witoon , Xu Zhimin 
Published: December 2021

SummaryToona sinensis (TS) shoot is a seasonal and quick deteriorating vegetable with unique alliaceous flavour. In this study, corn oil was used to concentrate the sulphur‐containing compounds responsible for the unique TS flavour with and without aqueous dispersion. The level of sulphur‐containing compounds in TS shoots was 0.32 μg g−1 and concentrated to 2.34 μg g−1 in the corn oil with aqueous dispersion. The sulphur‐containing compounds, trans‐2‐Mercapto‐3,4‐dimethyl‐2,3‐dihydrothiophene and (E,Z)‐Di‐1‐propenyldisulphide, were identified in the corn oil, while they were not detected in the oil without aqueous dispersion. Based on sensory and electronic nose analysis, the aroma of corn oil with aqueous medium extraction had stronger alliaceous aroma than TS shoots and the extraction corn oil without aqueous dispersion. With aqueous dispersion assistance, the sulphur‐containing aroma compounds in TS shoots were effectively concentrated in corn oil. The flavour‐enriched oil could serve as a flavour ingredient to deliver TS shoots aroma for different food applications.
The feasibility of patient reported outcome measures for the care of penile cancer
Authors: Branney Peter , Walters Elizabeth , Bryant Eleanor , Hollhead Cyan , Njoku Kelechi , Vyas Lona , Modica Ciara , Kayes Olly , Eardley Ian , Henry Ann 
Published: December 2021

AbstractWhen used in routine clinical practice, Patient Reported Outcomes Measures (PROMS) can give patients tacit approval to discuss embarrassing topics, which could be particularly useful for urological nursing. The aim of this study was to assess whether it would be feasible to use two such measures for penile cancer; one for body image (the Male Genital Self‐Image Scale; MGSIS‐5) and another for lymphedema (the Groin and Lower Limb Lymphedema questionnaire; G3L‐20). Study packs were posted to penile cancer patients who had received (i) sentinel node biopsy only, (ii) inguinal node dissection only, and (iii) inguinal node dissection with post‐operative radiotherapy with or without chemotherapy. The two measures (MGSIS‐5 and G3L‐20) were complemented with those specific to sexual function (IIEF) and cancer (EORTC‐QLQ‐C30 version 3) and a modified Lymphoedema Genitourinary Cancer Questionnaire (mLGUCQ). Twenty patients returned questionnaires. Validity and reliability analyses are presented but low participant numbers mean that results need treating with caution. Results show sufficient feasibility for the MGSIS‐5 and the G3L‐20 to warrant another study to attract larger numbers of participants, either over a longer time frame or at multiple sites. In these further studies, we would recommend adding (1) more Likert responses, (2) the timeframe to the MGIS and (3) exploring either the use of sexual desire psychometric measures or the addition of sexual desire items to the MGSIS for this patient group.
Home Field Advantage? EU–ACP Economic Partnership Agreement Meeting Locations and Textual Tone
Authors: Brazys Samuel , Schoonvelde Martijn 
Published: December 2021

AbstractThe European Union's Economic Partnership Agreements (EPAs) with countries in the African, Caribbean and Pacific (ACP) group are touted as a new form of equitable engagement. However, many argue that the EPAs simply substitute a different form of political and economic domination. In this paper, we consider if the siting of meetings has a substantive impact on EPA outcomes or media reporting thereof. Using a difference‐in‐difference like approach we evaluate if the tone and polarity of media reports about the EPAs during periods of ‘home’ meetings in the ACP countries differs from media reports during ‘away’ meetings in the EU. Using two different datasets we arrive at differing results, leading to inconclusive overall findings. While we suspect that the alternating meeting site norm has implications for EPA process and outcomes, further research will be needed to uncover the precise nature of these effects.
A comment on The adaptive value of gluttony: predators mediate the life history trade‐offs of satiation threshold by Pruitt & Krauel (2010)
Authors: Postma Erik , Gonzalez‐Voyer Alejandro , Holman Luke 
Published: December 2021

AbstractInspection of the data that accompany Pruitt and Krauel's study of individual variation in satiation threshold and a comparison of these data with the Materials and Methods and Results sections of the paper have revealed a number of issues that cast doubts on the reliability of the data and any results based on these data. In particular, we show that, following our analyses, the data are unlikely to have been obtained using the study design outlined in the publication and that statistical analyses of these data provide results that differ in important ways from those reported. These findings illustrate the importance of making raw data and analysis code available for the rigour and reproducibility of the scientific literature.
A combined approach of subcision with either cross‐linked hyaluronic acid or threads in the treatment of atrophic acne scars
Authors: Ebrahim Howyda M. , Nassar Amany , ElKashishy Kamal , Artima Aliah Younes Mohamed , Morsi Hala Mohamed 
Published: December 2021

AbstractBackgroundAcne scars are one of the most common cosmetic concerns causing psychosocial distress.ObjectiveTo evaluate the efficacy of subcision versus its combination with either cross‐linked hyaluronic acid (HA) or poly‐l‐lactic acid (PLLA) threads in the treatment of atrophic post‐acne scars.MethodsForty patients of both genders with atrophic acne scars were subjected to subcision 1 month apart for 3 sessions. After the last session of subcision, the patients were reclassified randomly into 2 equal groups each received either HA or threads in one side of the face leaving the other side that underwent subcision before as a control. Clinical assessment was carried out by the physicians and patients. Photographs and skin biopsies were obtained. Follow‐up was 6 months.ResultsA significant clinical improvement was achieved in 67.3% of patients after subcision alone compared to 94.1%, 82.4% of subcision combined with HA or threads, respectively. Patients’ satisfaction was higher in the combined groups compared to subcision alone (p < 0.0001). Side effects were tolerable and transient.ConclusionSubcision combined with HA or threads could offer a higher significant clinical improvement of acne scars than subcision alone.
Poor sleep accelerates hippocampal and posterior cingulate volume loss in cognitively normal healthy older adults
Authors: Liu Che , Lee Sang H. , Loewenstein David A. , Galvin James E. , Camargo Christian J. , Alperin Noam 
Published: December 2021

SummaryPoor sleep quality is a known risk factor for Alzheimer’s disease. This longitudinal imaging study aimed to determine the acceleration in the rates of tissue loss in cognitively critical brain regions due to poor sleep in healthy elderly individuals. Cognitively‐normal healthy individuals, aged ≥60 years, reported Pittsburgh Sleep Quality Index (PSQI) and underwent baseline and 2‐year follow‐up magnetic resonance imaging brain scans. The links between self‐reported sleep quality, rates of tissue loss in cognitively‐critical brain regions, and white matter hyperintensity load were assessed. A total of 48 subjects were classified into normal (n = 23; PSQI score <5) and poor sleepers (n = 25; PSQI score ≥5). The two groups were not significantly different in terms of age, gender, years of education, ethnicity, handedness, body mass index, and cognitive performance. Compared to normal sleepers, poor sleepers exhibited much faster rates of volume loss, over threefold in the right hippocampus and fivefold in the right posterior cingulate over 2 years. In contrast, there were no significant differences in the rates of volume loss in the cerebral and cerebellar grey and white matter between the two groups. Rates of volume loss in the right posterior cingulate were negatively associated with global PSQI scores. Poor sleep significantly accelerates volume loss in the right hippocampus and the right posterior cingulate cortex. These findings demonstrate that self‐reported sleep quality explains inter‐individual differences in the rates of volume loss in cognitively‐critical brain regions in healthy older adults and provide a strong impetus to offer sleep interventions to cognitively normal older adults who are poor sleepers.
Activity modulation of anti‐sigma factor via cysteine alkylation in Actinobacteria
Authors: Oh Gyeong‐Seok , Yoo Ji‐Sun , Park Joo‐Hong , Roe Jung‐Hye 
Published: December 2021

AbstractσR (SigR) is an alternative sigma factor that enables gene expression in Streptomyces coelicolor to cope with thiol oxidation and antibiotic stresses. Its activity is repressed by a zinc‐containing anti‐sigma (ZAS) factor RsrA that senses thiol oxidants and electrophiles. Inactivation of RsrA by disulfide formation has been well studied. Here we investigated another pathway of RsrA inactivation by electrophiles. Mass spectrometry revealed alkylation of RsrA in vivo by N‐ethylmaleimide (NEM) at C61 and C62 located in the C‐terminal loop. Substitution mutation (C61S/C62S) in RsrA decreased the induction of σR target genes by electrophiles and made cells more sensitive to electrophiles. In contrast to stable protein of oxidized RsrA, alkylated RsrA is subjected to degradation partly mediated by ClpP proteases. RsrA2, a redox‐sensitive homolog of RsrA in S. coelicolor lacking cysteine in the terminal loop, did not respond to electrophiles. However, redox‐sensitive RsrA homologs in other Actinobacteria also harboring terminal loop cysteines all responded to electrophiles. These results indicate that the activity of RsrA can be modulated via cysteine alkylation, apart from disulfide formation of zinc‐coordinating cysteines. This pathway expands the spectrum of signals that the σR‐RsrA system can sense and reveals another intricate regulatory layer for optimal survival of Actinobacteria.
Genetic variation in sea otters (Enhydra lutris) from the North Pacific with relevance to the threatened Southwest Alaska Distinct Population Segment
Authors: Flannery Blair G. , Russ Ora L. , St. Martin Michelle L. , Beatty William S. , Worman Kristin K. , Garlich‐Miller Joel L. , Gill Verena A. , Lemons Patrick L. , Monson Daniel H. , Kloecker Kimberly A. , Esler Daniel , Wenburg John K. 
Published: December 2021

AbstractFor the sea otter (Enhydra lutris), genetic population structure is an area of research that has not received significant attention, especially in Southwest Alaska where that distinct population segment has been listed as threatened since 2005 pursuant to the U.S. Endangered Species Act. In this study, 501 samples from 14 locations from Prince William Sound, Alaska to the Commander Islands in Russia were analyzed for variation at 13 microsatellite loci. Our results indicate a high degree of genetic divergence among the 14 locations (FST = 0.120) with gene flow conforming to the isolation by distance (IBD) model (r2 = 0.491, p < .05). The 14 sampling locations formed six geographic associations in clustering and ordination analyses that likely correspond to remnant population lineages: (1) Southcentral Alaska, (2) Kodiak and North Alaska Peninsula, (3) South Alaska Peninsula and Bristol Bay, (4) Eastern Aleutian, (5) Western Aleutian, and (6) the Commander Islands. Except for South Alaska Peninsula and Bristol Bay, these clusters closely agree with previously defined stock and management unit boundaries. Our results reveal significant genetic population structure and are generally congruent with current management strategies for the threatened Southwest Alaska distinct population segment.
Critical illness neuropathy: A clinicopathological case
Authors: Tateno Fuyuki , Sakakibara Ryuji , Aiba Yosuke , Nakagawa Koichi , Sugiura Yoshiya , Hiruta Nobuyuki 
Published: December 2021

AbstractWe report a case of an older woman who, after a long‐lasting systemic inflammation in a non‐ICU hospital ward, developed severe neuropathy and mild encephalopathy. Electrophysiology and autopsy findings confirmed the diagnosis of critical illness polyneuropathy, with presumed Wallerian degeneration in the spinal dorsal column.
Preoperative checklist to reduce the risk of cardiac implantable electronic device infections
Authors: Ziacchi Matteo , Massaro Giulia , Angeletti Andrea , Statuto Giovanni , Diemberger Igor , Martignani Cristian , Galiè Nazzareno , Biffi Mauro , Boriani Giuseppe 
Published: December 2021

AbstractCardiac implantable electronic device (CIED) infection represents a dramatic event with a high mortality rate (>3x) despite antibiotic therapy and device extraction; therefore, the real winning strategy in this situation could be represented by prevention. Antibiotic prophylaxis and antibiotic‐releasing envelope are effective in improving patient outcome; however, healthcare costs related to CIED infections remain high over the years. In this review we would keep the attention on a pre‐surgical checklist to reduce the risk of CIED infections. In fact, checklist is an effective instrument for medical care quality improvement mainly used in surgery, but not very commonly in cath‐lab and electrophysiology procedures. All steps of this checklist are of proven effectiveness in reducing the risk of CIED infections but, up till now, they are not considered together in a pre‐surgical approach.
Genomic variability and plasticity of Pseudomonas causing coffee leaf spots in Minas Gerais state, Brazil
Authors: Alves Francisco Henrique Nunes da Silva , Monteiro Ana Leticia Rocha , Pereira Isadora Cristófoli , da Silva José Cleydson Ferreira , Almeida Renan N. D. , McTavish Kathryn J. , Guttman David S. , Raimundi Melina Korres , de Souza Ricardo Magela , de Resende Mario Lucio Vilela , Badel Jorge Luis 
Published: December 2021

AbstractFoliar spots caused by Pseudomonas coronafaciens pv. garcae (Pcg), Pseudomonas amygdali pv. tabaci (Pat) and Pseudomonas cichorii (Pch) are major bacterial diseases that can reduce coffee production. However, little is known about the genetic diversity and molecular mechanisms underlying the pathogenicity to coffee plants of these bacteria. In this study, genome sequences of Pcg, Pat and Pch strains isolated from coffee plants in Minas Gerais state, Brazil, were used to assess their variability and plasticity, and compare their type III secretion system (T3SS) and apoplastic effector repertoires as well as tabtoxin biosynthetic/detoxification genes. Genomic diversity was found for all three phytopathogens, among which Pch possesses the highest number of exclusive proteins. The Pcg genome is the most stable whereas that of Pch is the most plastic, which is related to their host ranges. When compared with those of Pseudomonas syringae pv. tomato DC3000, hrp/hrc gene sequences are more conserved in Pcg and Pat than in Pch, which also possesses the smallest T3SS and the largest apoplastic effector repertoires. The only T3SS effector family common to all three pathogens is AvrE, suggesting that, as for other plant–Pseudomonas interactions, it may play a crucial role for pathogenicity towards coffee plants. Apoplastic proteins associated with maintaining the redox balance and degrading proteins/peptides not previously described as important in plant–bacteria interactions were found. Gain/loss of the tabtoxin biosynthetic cluster with retention of the antitoxin gene was observed, indicating that tabtoxin production is not a limiting factor for the occurrence of mixed infections.
A multicenter retrospective comparison of trauma in toy breeds versus giant breeds: A Veterinary Committee on Trauma registry study
Authors: Bell Amy L. , Rozanski Elizabeth A. , Babyak Jonathan 
Published: December 2021

AbstractObjectiveTo retrospectively evaluate and stratify the differences in signalment, mechanisms, and severity of injury between toy and giant breed dogs.DesignRetrospective, observational cohort study.SettingMulticenter, university veterinary teaching hospital, and private referral hospitals contributing to Veterinary Committee on Trauma (VetCOT) patient registry.AnimalsTwo thousand seven hundred and five (2589 toy and 116 giant breed) dogs presented for trauma with complete data entries recruited into the Veterinary Committee on Trauma registry from September 1, 2013 through December 31, 2017.InterventionsNone.Measurements and Main ResultsInjury etiology in toy breeds was predominantly blunt trauma (1532/2587 [59.2%]), commonly falling from a height or motor vehicle accident, whereas in giant breeds penetrating trauma was more common (71/116 [61.2%]). Eighty‐seven percent (2231/2558) of toy breeds and 94.7% (108/114) giant breeds survived to discharge. When stratified by severity of injury (animal trauma triage [ATT] ≥ 5), mortality increased. Severely injured toy breeds had a 45.6% (200/438) survival rate, and severely injured giant breeds had a 62.5% (5/8) survival rate. Patient size did not impact survival in a logistic regression model; however, ATT score (odd ratio, 0.55; 95% CI, 0.52–0.58; P < 0.001), modified Glasgow Coma Scale (mGCS; odds ratio, 1.2; 95% CI, 1.11–1.32; P < 0.001), and base excess (odds ratio, 1.15; 95% CI, 1.09–1.22; P < 0.001) were predictive of nonsurvival. Surgical intervention was required in 743 of 2587 (29%) toy breeds and 65 of 116 (56%) giant breeds. Surgery was associated with an increased survival rate (odds ratio, 4.43; 95% CI, 2.45–8.83; P < 0.0001).ConclusionsEvaluation of a large, multicenter dataset showed that ATT score along with base excess, plasma lactate, and mGCS were predictors of mortality independent of patient size. Severely injured dogs, as defined by an ATT score ≥ 5, were less likely to survive, and toy breed dogs had a higher mortality rate than giant breeds in the subcategory.