bluuebunny/crossref_metadata_2025_split huggingface dataset:
Spectrum of epilepsy with eyelid myoclonia: Delineation of disease subtypes from a large multicenter study
Authors: Cerulli Irelli Emanuele , Cocchi Enrico , Ramantani Georgia , Riva Antonella , Caraballo Roberto Horacio , Morano Alessandra , Giuliano Loretta , Yilmaz Tülay , Panagiotakaki Eleni , Operto Francesca F. , Giraldez Beatriz Gonzalez , Balestrini Simona , Silvennoinen Katri , Casciato Sara , Comajuan Marion , Fortunato Francesco , Giallonardo Anna Teresa , Gamirova Rimma , Coppola Antonietta , Di Gennaro Giancarlo , Labate Angelo , Sofia Vito , Kluger Gerhard Josef , Gambardella Antonio , Kasteleijn‐NolstTrenite Dorothee G. A. , Baykan Betul , Sisodiya Sanjay M. , Arzimanoglou Alexis , Striano Pasquale , Di Bonaventura Carlo ,   the EMA Study Group
Published: October 2022

AbstractObjectiveEpilepsy with eyelid myoclonia (EEM) has been associated with marked clinical heterogeneity. Early epilepsy onset has been recently linked to lower chances of achieving sustained remission and to a less favorable neuropsychiatric outcome. However, much work is still needed to better delineate this epilepsy syndrome.MethodsIn this multicenter retrospective cohort study, we included 267 EEM patients from nine countries. Data on electroclinical and demographic features, intellectual functioning, migraine with or without aura, family history of epilepsy, and epilepsy syndromes in relatives were collected in each patient. The impact of age at epilepsy onset (AEO) on EEM clinical features was investigated, along with the distinctive clinical characteristics of patients showing sporadic myoclonia involving body regions other than eyelids (body‐MYO).ResultsKernel density estimation revealed a trimodal distribution of AEO, and Fisher–Jenks optimization disclosed three EEM subgroups: early onset (EO‐EEM), intermediate onset (IO‐EEM), and late onset (LO‐EEM). EO‐EEM was associated with the highest rate of intellectual disability, antiseizure medication refractoriness, and psychiatric comorbidities and with the lowest rate of family history of epilepsy. LO‐EEM was associated with the highest proportion of body‐MYO and generalized tonic–clonic seizures (GTCS), whereas IO‐EEM had the lowest observed rate of additional findings. A family history of EEM was significantly more frequent in IO‐EEM and LO‐EEM compared with EO‐EEM. In the subset of patients with body‐MYO (58/267), we observed a significantly higher rate of migraine and GTCS but no relevant differences in other electroclinical features and seizure outcome.SignificanceBased on AEO, we identified consistent EEM subtypes characterized by distinct electroclinical and familial features. Our observations shed new light on the spectrum of clinical features of this generalized epilepsy syndrome and may help clinicians toward a more accurate classification and prognostic profiling of EEM patients.
A rapidDNAextraction method for the detection ofClavibacter sepedonicusandRalstonia solanacearumin potato samples in a multiplexPCRtest
Authors: Nechwatal Jan , Theil Sigrid 
Published: October 2022

AbstractA method is described that generates DNA extracts suitable for the detection ofClavibacter sepedonicusandRalstonia solanacearumin potato samples, without the need for laborious, time‐consuming extraction protocols or expensive kits and laboratory equipment. Furthermore, a multiplex test is presented that allows the simultaneous detection of both pathogens in one standard PCR reaction. The methods described here allowed the detection of both bacteria in cell densities of 103cells per mL of plant extract, thus fulfilling the demands of official testing schemes, e.g. in the European Union. High potato starch content did not affect analytical sensitivity, and high concentrations of one pathogen did not impede the detection of the other. This method might be useful for all laboratories worldwide carrying out medium‐ to large‐scale potato testing for bacteria, and also seems to be suitable for the detection of virus diseases relevant for seed potato certification.
Evidence for older carbon loss with lowered water tables and changing plant functional groups in peatlands
Authors: Stuart Julia E. M. , Tucker Colin L. , Lilleskov Erik A. , Kolka Randall K. , Chimner Rodney A. , Heckman Katherine A. , Kane Evan S. 
Published: October 2022

AbstractA small imbalance in plant productivity and decomposition accounts for the carbon (C) accumulation capacity of peatlands. As climate changes, the continuity of peatland net C storage relies on rising primary production to offset increasing ecosystem respiration (ER) along with the persistence of older C in waterlogged peat. A lowering in the water table position in peatlands often increases decomposition rates, but concurrent plant community shifts can interactively alter ER and plant productivity responses. The combined effects of water table variation and plant communities on older peat C loss are unknown. We used a full‐factorial 1‐m3 mesocosm array with vascular plant functional group manipulations (Unmanipulated Control, Sedge only, and Ericaceous only) and water table depth (natural and lowered) treatments to test the effects of plants and water depth on CO2 fluxes, decomposition, and older C loss. We used Δ14C and δ13C of ecosystem CO2 respiration, bulk peat, plants, and porewater dissolved inorganic C to construct mixing models partitioning ER among potential sources. We found that the lowered water table treatments were respiring C fixed before the bomb spike (1955) from deep waterlogged peat. Lowered water table Sedge treatments had the oldest dissolved inorganic 14C signature and the highest proportional peat contribution to ER. Decomposition assays corroborated sustained high rates of decomposition with lowered water tables down to 40 cm below the peat surface. Heterotrophic respiration exceeded plant respiration at the height of the growing season in lowered water table treatments. Rates of gross primary production were only impacted by vegetation, whereas ER was affected by vegetation and water table depth treatments. The decoupling of respiration and primary production with lowered water tables combined with older C losses suggests that climate and land‐use‐induced changes in peatland hydrology can increase the vulnerability of peatland C stores.
‘Advocacy groups are the connectors’: Experiences and contributions of rare disease patient organization leaders in advanced neurotherapeutics
Authors: Nguyen Christina Q. , Kariyawasam Didu , Alba‐Concepcion Kristine , Grattan Sarah , Hetherington Kate , Wakefield Claire E. , Woolfenden Susan , Dale Russell C. , Palmer Elizabeth E. , Farrar Michelle A. 
Published: October 2022

AbstractIntroductionBiomedical progress has facilitated breakthrough advanced neurotherapeutic interventions, whose potential to improve outcomes in rare neurological diseases has increased hope among people with lived experiences and their carers. Nevertheless, gene, somatic cell and other advanced neurotherapeutic interventions carry significant risks. Rare disease patient organizations (RDPOs) may enhance patient experiences, inform expectations and promote health literacy. However, their perspectives are understudied in paediatric neurology. If advanced neurotherapeutics is to optimize RDPO contributions, it demands further insights into their roles, interactions and support needs.MethodsWe used a mixed‐methodology approach, interviewing 20 RDPO leaders representing paediatric rare neurological diseases and following them up with two online surveys featuring closed and open‐ended questions on advanced neurotherapeutics (19/20) and negative mood states (17/20). Qualitative and quantitative data were analysed using thematic discourse analysis and basic descriptive statistics, respectively.ResultsLeaders perceived their roles to be targeted at educational provision (20/20), community preparation for advanced neurotherapeutic clinical trials (19/20), information simplification (19/20) and focused research pursuits (20/20). Although most leaders perceived the benefits of collaboration between stakeholders, some cited challenges around collaborative engagement under the following subthemes: conflicts of interest, competition and logistical difficulties. Regarding neurotherapeutics, RDPO leaders identified support needs centred on information provision, valuing access to clinician experts and highlighting a demand for co‐developed, centralized, high‐level and understandable, resources that may improve information exchange. Leaders perceived a need for psychosocial support within themselves and their communities, proposing that this would facilitate informed decision‐making, reduce associated psychological vulnerabilities and maintain hope throughout neurotherapeutic development.ConclusionThis study provides insights into RDPO research activities, interactions and resource needs. It reveals a demand for collaboration guidelines, central information resources and psychosocial supports that may address unmet needs and assist RDPOs in their advocacy.Patient or Public ContributionIn this study, RDPO leaders were interviewed and surveyed to examine their perspectives and roles in advanced neurotherapeutic development. Some participants sent researchers postinterview clarification emails regarding their responses to questions.
Fermented coconut jelly as a probiotic vehicle, physicochemical and microbiology characterisation during an in vitro digestion
Authors: Domínguez‐Murillo A.C , Urías‐Silvas J.E. 
Published: October 2022

SummaryThere is little information on the survival of probiotics in plant‐based foods after simulated gastric and intestinal conditions, likewise the microstructure arrangement in the no‐dairy fermented food. This work aimed to study if the agar–agar in a fermented coconut jelly confers protection to probiotics, phenolic and antioxidant compounds during in vitro digestion. Samples containing higher agar–agar amounts tend to retain (P < 0.05) antioxidant and phenolic compounds in their network better, even after the in vitro digestion. Also, a compact and homogeneous microstructure was observed by the Confocal Laser Scanning Microscopy. The texture profile analysis shows that 1% of agar samples presented the maximum hardness (P < 0.05) due to more bonding points and intermolecular interactions. Finally, the survival of probiotics remained above the recommended values (106–107 CFU g−1) after the in vitro digestion of a product with probiotic potential.
Reduction of faking with the use of a forced‐choice personality test: Cross‐cultural comparisons between South Korea and the United States
Authors: Lee HyeSun 
Published: October 2022

AbstractForced‐choice format tests have been suggested as an alternative to Likert‐scale measures for personnel selection due to robustness to faking and response styles. This study compared degrees of faking occurring in Likert‐scale and forced‐choice five‐factor personality tests between South Korea and the United States. Also, it was examined whether the forced‐choice format was effective at reducing faking in both countries. Data were collected from 396 incumbents participating in both honest and applicant conditions (NSK = 179, NUS = 217). Cohen's d values for within‐subjects designs (dswithin) for between the two conditions were utilized to measure magnitudes of faking occurring in each format and country. In both countries, the degrees of faking occurring in the Likert‐scale were larger than those from the forced‐choice format, and the magnitudes of faking across five personality traits were larger in South Korea by from 0.07 to 0.12 in dswithin. The forced‐choice format appeared to successfully reduce faking for both countries as the average dswithin decreased by 0.06 in both countries. However, the patterns of faking occurring in the forced‐choice format varied between the two countries. In South Korea, degrees of faking in Openness and Conscientiousness increased, whereas those in Extraversion and Agreeableness were substantially decreased. Potential factors leading to trait‐specific faking under the forced‐choice format were discussed in relation to cultural influence on the perception of personality traits and score estimation in Thurstonian item response theory (IRT) models. Finally, the adverse impact of using forced‐choice formats on multicultural selection settings was elaborated.
Expression levels of NPPB, ITGB6, CPNE4, EML5, and ITSN1 in fresh exudates swabbed from critically colonised and infected full‐thickness wounds in rats
Authors: Takizawa Chihiro , Minematsu Takeo , Nakagami Gojiro , Kitamura Aya , Koudounas Sofoklis , Kunimitsu Mao , Sanada Hiromi 
Published: October 2022

AbstractPressure injury management requires reliable identification of critical colonisation due to lack of infection signs. Our research group previously proposed the mRNAs natriuretic peptide B (Nppb), integrin subunit beta 6 (Itgb6), copine 4 (Cpne4), echinoderm microtubule‐associated protein like 5, and intersectin 1 as candidate markers in pooled exudates of critically colonised wounds. However, it is unclear whether mRNAs or proteins of the candidate genes would be suitable as biomarkers in fresh exudate. Therefore, this study aimed to evaluate the validity of the mRNAs and proteins as fresh exudate markers for critical colonisation. Three wound models of normal healing, critical colonisation, and infection were created in rats. Fresh swab‐collected exudates were collected, and mRNA and protein expression levels were measured. In the fresh wound exudates, the detection frequency of Itgb6 tended to decrease in the critically colonised and infected wounds (P = .067), and those of Cpne4 and Nppb tended to be lower in the infected wounds than in the normal healing and critically colonised wounds (P = .006 and .067, respectively). In contrast, there was no difference in protein expression in the exudates. This study suggests that Itgb6 mRNA in fresh exudates is a promising biomarker for critical colonisation.
What brings adults with Down syndrome to the hospital? A retrospective review of a Spanish cohort between 1997 and 2014
Authors: Aparicio Paloma , Barba Raquel , Moldenhauer Fernando , Suárez Carmen , Real de Asúa Diego 
Published: October 2022

AbstractObjectivesTo describe the clinical and epidemiological characteristics of adult patients with Down syndrome admitted to Spanish hospitals between 1997 and 2014. Secondary goals were to study trend changes over time, and to analyse differences between patients admitted to medical and surgical departments.Patients and MethodsRetrospective observational study on data collected from the Minimum Basic Dataset (MBDS, Conjunto Mínimo Básico de Datos [CMBD]) of admissions of adults with Down syndrome to hospitals belonging to the Spanish National Health System from 1 January 1997 through 31 December 2014. We analysed epidemiological and clinical variables.ResultsWe analysed 28,716 admissions of 16,874 adult patients with Down syndrome. Men accounted for 58.2% of the sample, and the mean age on admission was 41 ± 13 years, with an 11‐year increase in mean age during the study period. Admissions among persons with Down syndrome increased by 5% during the study period, with a noticeable rise in admissions of older adults and to medical departments. Almost one‐third of patients (31.8%) were admitted more than once. Age‐adjusted mortality was 15.7%. The most common comorbid conditions were chronic obstructive pulmonary disease (25%), hypothyroidism (18.6%), and epilepsy (14.3%). The departments with the highest numbers of admissions were internal medicine (26.3%), pulmonary medicine (6.9%), and general surgery (5.25%).ConclusionHospital admissions among Spanish adults with Down syndrome have increased in recent decades, especially in older patients. We identified substantial differences between patients admitted to medical and surgical departments.
Protein succinylation associated with the progress of hepatocellular carcinoma
Authors: Bai Wenhui , Cheng Li , Xiong Liangkun , Wang Maoming , Liu Hao , Yu Kaihuan , Wang Weixing 
Published: October 2022

AbstractAlthough post‐translational modification is critical to tumorigenesis, how succinylation modification of lysine sites influences hepatocellular carcinoma (HCC) remains obscure. 90 tumours and paired adjacent normal tissue of liver cancer were enrolled for succinylation staining. 423 HCC samples with 20 genes related to succinylation modification from TCGA were downloaded for model construction. Statistical methods were employed to analyse the data, including the Non‐Negative Matrix Factorization (NMF) algorithm, t‐Distributed Stochastic Neighbour Embedding (t‐SNE) algorithm, and Cox regression analysis. The staining pan‐succinyllysine antibody staining indicated that tumour tissues had a higher succinyllysine level than adjacent tissues (p < 0.001), which could be associated with a worse prognosis (p = 0.02). The survival was associated with pathological stage, tumour recurrence status and succinyllysine intensity in the univariate or multivariable cox survival analysis model. The risk model from 20 succinyllysine‐related genes had the best prognosis prediction. The high expression of succinylation modification in HCC contributed to the worse patient survival prognosis. Model construction of 20 genes related to succinylation modification (MEAF6, OXCT1, SIRT2, CREBBP, KAT5, SIRT4, SIRT6, SIRT7, CPT1A, GLYATL1, SDHA, SDHB, SDHC, SDHD, SIRT1, SIRT3, SIRT5, SUCLA2, SUCLG1 and SUCLG2) could be reliable in predicting prognosis in HCC.
7‐Epitaxol induces apoptosis in cisplatin‐resistant head and neck squamous cell carcinoma via suppression of AKT and MAPK signalling
Authors: Yang Hui‐Ju , Velmurugan Bharath Kumar , Chen Mu‐Kuan , Lin Chia‐Chieh , Lo Yu‐Sheng , Chuang Yi‐Ching , Ho Hsin‐Yu , Hsieh Ming‐Ju , Ko Jiunn‐Liang 
Published: October 2022

AbstractHead and neck squamous cell carcinoma (HNSCC) is the sixth most common cancer worldwide. Although cisplatin‐based chemotherapy is commonly used in HNSCC, frequent development of cisplatin resistance is a potential cause of poor HNSCC prognosis. In the present study, we investigated the anticancer efficacy of a major paclitaxel metabolite namely 7‐Epitaxol in cisplatin‐resistant HNSCC. The findings revealed that 7‐Epitaxol exerts cytotoxic effects in cisplatin‐resistant HNSCC cell lines by inducing cell cycle arrest and intrinsic and extrinsic apoptotic pathways. Specifically, 7‐Epitaxol increased Fas, TNF‐R1, DR5, DcR3 and DcR2 expressions, reduced Bcl‐2 and Bcl‐XL (anti‐apoptotic proteins) expressions, and increased Bid and Bim L/S (pre‐apoptotic proteins) expressions, leading to activation of caspase‐mediated cancer cell apoptosis. At the upstream cell signalling level, 7‐Epitaxol reduced the phosphorylation of AKT, ERK1/2 and p38 to trigger apoptosis. In vivo results showed that animals treated with 7‐Epitaxol show antitumor growth compared to control animals. Taken together, the study demonstrates the potential anticancer efficacy of 7‐Epitaxol in inducing apoptosis of cisplatin‐resistant HNSCC cells through the suppression of AKT and MAPK signalling pathways.
Effectiveness of a standardized skin care regimen to prevent atopic dermatitis in infants at risk for atopy: A randomized, pragmatic, parallel‐group study
Authors: Kottner Jan , Hillmann Kathrin , Fastner Alexandra , Conzade Romy , Heidingsfelder Stephanie , Neumann Konrad , Blume‐Peytavi Ulrike ,   ADAPI Study Group
Published: October 2022

AbstractBackgroundIt has been proposed that regular emollient application in early life could enhance skin barrier function and prevent atopic dermatitis (AD) especially in predisposed infants. This hypothesis was supported by evidence from exploratory and pilot trials showing protective effects in terms of reduced cumulative atopic dermatitis incidence with the use of daily emollient therapy starting immediately after birth.ObjectivesTo investigate the effectiveness of a standardized skin care regimen for infants on the development of AD compared to not structured skin care regimen in infants with atopic predisposition.MethodsProspective, parallel group, randomized, pragmatic, investigator‐blinded intervention trial including 160 infants with 52 weeks intervention and 52 weeks follow up phase up to the age of two years. Infants were randomly assigned to receive a standardized skin care regimen including once daily leave‐on product application (lipid content 21%) or skin care as preferred by the parents.ResultsUsing the intention to treat approach, the cumulative AD incidence was 10.6% after one year, and 19.5% after two years in the total sample. There were no statistical significant differences between intervention and control groups. Skin barrier parameters between the intervention and control groups were comparable. AD severity was higher and quality of life was more affected in the control group.ConclusionsRegular emollient application during the first year of life does not prevent the development of atopic dermatitis. A standardized skin care regimen does not delay skin barrier development or causes side effects.
A Statistical Test for the Detection of Item Compromise Combining Responses and Response Times
Authors: van der Linden Wim J. , Belov Dmitry I. 
Published: October 2022

AbstractA test of item compromise is presented which combines the test takers' responses and response times (RTs) into a statistic defined as the number of correct responses on the item for test takers with RTs flagged as suspicious. The test has null and alternative distributions belonging to the well‐known family of compound binomial distributions, is simple to calculate, and has results that are easy to interpret. It also demonstrated nearly perfect power for the detection of compromise with no more than 10 test takers with preknowledge of the more difficult and discriminating items in a set of empirical examples. For the easier and less discriminating items, the presence of some 20 test takers with preknowledge still sufficed. A test based on the reverse statistic of the total time by test takers with responses flagged as suspicious may seem a natural alternative but misses the property of a monotone likelihood ratio necessary to decide between a test that should be left or right sided.