bluuebunny/crossref_metadata_2025_split huggingface dataset:
Family carers managing personal budgets for adults with learning disabilities or autism
Authors: Turnpenny Agnes , Rand Stacey , Whelton Beckie , Beadle‐Brown Julie , Babaian Jacinta 
Published: October 2020

Accessible summary

Direct payments can help people with learning disabilities or autism to have good support. Often, family carers manage the direct payments for people who would find this very difficult.

We asked family carers who managed direct payments to tell us why they decided to do this and what their experiences were.

Family carers told us they found managing direct payments difficult and stressful at first, but this got easier over time.

They also said that direct payments helped their family members to have more person‐centred support.

AbstractBackgroundThere are a growing number of people with learning disabilities and autism who access personal budgets in the form of direct payments in England. Although they are often involved in decisions about their support, personal budgets are usually managed by someone else, typically a parent. This study examined the experiences of carers who manage personal budgets for adults with learning disabilities or autism with a particular focus on the challenges of securing suitable support and implications for their own well‐being.MethodsThis was a qualitative study using a descriptive phenomenological approach to investigate the lived experiences of family carers who manage personal budgets. We conducted semi‐structured interviews with 13 family carers. Interview transcripts were thematically analysed using the framework approach.ResultsOur analysis identified five main themes. The first theme relates to why carers decide to take up a personal budget in the first place and their initial expectations. The second theme, restricted choice, highlights the difficulties in securing adequate support and services in the context of what are often described as “complex needs.” The third and fourth themes relate to the tasks involved in managing a personal budget and the challenges associated with the dual role of the carer as a parent and a “professional.” The fifth and final theme, mixed emotions, describes the impact on the subjective well‐being of carers.ConclusionsFamily carers indicated that the benefits of personal budgets outweighed the difficulties and stress inherent in managing them. They need adequate support to ensure that personal budgets deliver personalised and self‐directed support and greater well‐being, and are sustainable arrangements.
Human papillomavirus vaccine to prevent cervical intraepithelial neoplasia in Japan: A nationwide case‐control study
Authors: Ikeda Sayaka , Ueda Yutaka , Hara Megumi , Yagi Asami , Kitamura Tetsuhisa , Kitamura Yuri , Konishi Hiroshi , Kakizoe Tadao , Sekine Masayuki , Enomoto Takayuki , Sobue Tomotaka 
Published: October 2020

AbstractCervical cancer remains among the most common cancers in women worldwide and can be prevented by vaccination. The Ministry of Health, Labour and Welfare of Japan suspended active recommendation of regular human papillomavirus (HPV) vaccines in 2013 because of various symptoms including chronic pain and motor impairment. This nationwide case‐control study from April 2013 to March 2017 targeted women aged 20‐24 years old at cervical screening. We compared HPV vaccination exposure between those with abnormal and normal cytology. Abnormal cytology was classified based on the results of histological test and we calculated the odds ratio (OR) and 95% confidence interval (CI) of the above endpoints and vaccination exposure using the conditional logistic regression model and estimated vaccine effectiveness using the formula (1 – OR) × 100. A total of 2483 cases and 12 296 controls (one‐to‐five matching) were eligible in 31 municipalities in Japan. The distribution of histological abnormalities among cases was 797 CIN1 (including dysplasia) (32.1%), 165 CIN2 (6.7%), 44 CIN3 (1.8%), and eight squamous cell carcinoma (SCC) (0.3%). The OR of HPV vaccination compared with no vaccination for abnormal cytology, CIN1+, CIN2+, and CIN3+ versus controls was 0.42 (95% CI, 0.34‐0.50), 0.42 (95% CI, 0.31‐0.58), 0.25 (95% CI, 0.12‐0.54), and 0.19 (95% CI, 0.03‐1.15), respectively, equating to a vaccine effectiveness of 58.5%, 57.9%, 74.8%, and 80.9%, respectively. Eight patients had SCC, none was vaccinated. This nationwide case‐control study in Japan demonstrated a substantial risk reduction in abnormal cytology and CIN among women who did versus those who did not receive HPV vaccination.
Whole-exome sequencing of T-B+ severe combined immunodeficiency in Egyptian infants, JAK3 predominance and novel variants
Authors: El Hawary R , Meshaal S , Mauracher A A , Opitz L , Abd Elaziz D , Lotfy S , Eldash A , Boutros J , Galal N , Pachlopnik Schmid J , Elmarsafy A 
Published: October 2020

Summary
Severe combined immunodeficiency (SCID) is fatal if not treated with immune reconstitution. In Egypt, T-B+ SCID accounts for 38·5% of SCID diagnoses. An accurate genetic diagnosis is essential for choosing appropriate treatment modalities and for offering genetic counseling to the patient's family. The objectives of this study were to describe the clinical, immunological and molecular characteristics of a cohort of twenty Egyptian patients with T-B+ SCID. The initial diagnosis (based on clinical features and flow cytometry) was followed by molecular investigation (whole-exome sequencing). All patients had the classic clinical picture for SCID, including failure to thrive (n = 20), oral candidiasis (n = 17), persistent diarrhea (n = 14), pneumonia (n = 13), napkin dermatitis (n = 10), skin rash (n = 7), otitis media (n = 3) and meningitis (n = 2). The onset of manifestations was at the age of 2·4 ± 1·6 months and diagnosis at the age of 6·7 ± ·5 months, giving a diagnostic delay of 4·3 months. JAK3 gene variants were most frequent (n = 12) with three novel variants identified, followed by IL2Rγ variants (n = 6) with two novel variants. IL7Rα and CD3ε variants were found once, with a novel variant each. T-B+NK− SCID accounted for approximately 90% of the Egyptian patients with T-B+SCID. Of these T-B+NK− SCID cases, 60% were autosomal recessive syndromes caused by JAK3 mutations and 30% were X-linked syndromes. It might be useful to sequence the JAK3 gene (i.e. targeted Sanger sequencing) in all T-B+ SCID patients, especially after X-linked SCID has been ruled out. Hence, no more than 10% of T-B+ SCID patients might require next-generation for a molecular diagnosis.
Precise variant interpretation, phenotype ascertainment, and genotype–phenotype correlation of children in the EARLY PRO‐TECT Alport trial
Authors: Boeckhaus Jan , Hoefele Julia , Riedhammer Korbinian M. , Tönshoff Burkhard , Ehren Rasmus , Pape Lars , Latta Kay , Fehrenbach Henry , Lange‐Sperandio Baerbel , Kettwig Matthias , Hoyer Peter , Staude Hagen , Konrad Martin , John Ulrike , Gellermann Jutta , Hoppe Bernd , Galiano Matthias , Gessner Michaela , Pohl Michael , Bergmann Carsten , Friede Tim , Gross Oliver ,   for the GPN Study Group and EARLY PRO‐TECT Alport Investigators
Published: October 2020

AbstractEarly initiation of therapy in patients with Alport syndrome (AS) slows down renal failure by many years. Genotype–phenotype correlations propose that the location and character of the individual's variant correlate with the renal outcome and any extra renal manifestations. In‐depth clinical and genetic data of 60/62 children who participated in the EARLY PRO‐TECT Alport trial were analyzed. Genetic variants were interpreted according to current guidelines and criteria. Genetically solved patients with X‐linked inheritance were then classified according to the severity of their COL4A5 variant into less‐severe, intermediate, and severe groups and disease progress was compared. Almost 90% of patients were found to carry (likely) pathogenic variants and classified as genetically solved cases. Patients in the less‐severe group demonstrated a borderline significant difference in disease progress compared to those in the severe group (p = 0.05). While having only limited power according to its sample size, an obvious strength is the precise clinical and genetic data of this well ascertained cohort. As in published data differences in clinical progress were shown between patients with COL4A5 less‐severe and severe variants. Therefore, clinical and segregational data are important for variant (re)classification. Genetic testing should be mandatory allowing early diagnosis and therapy of AS.
Determinants of the grant lag and the surrender lag of horticultural crop plant breeders’ rights applications: Survival analysis with competing risks
Authors: Meng Ting , Carew Richard , Florkowski Wojciech J. 
Published: October 2020

AbstractObtaining a Plant Breeders’ Rights (PBR) certificate provides horticultural institutions the exclusive right to produce and reproduce new varieties, which directly motivate new plant variety innovations. This study investigates how the grant and surrender lag of PBR certificates is influenced by the crop type and applicant characteristics using the Canadian Food Inspection Agency horticultural crop PBR application data for the period 1992–2014. Results from the Fine and Gray subdistribution hazard model reveal that the grant lag and surrender lag of Canadian PBR applications significantly vary by the country of origin of the applicant, whether the applicant is a public institution or private company/individual, horticultural crop types, and the decades when applications are filed. The policy implications of the results provide useful information to stakeholders of the Canadian Plant Breeders’ Rights System regarding how the lifespan of PBRs is influenced by crop type and applicant characteristics.
The effect of the Canada–China canola trade dispute on canola prices
Authors: Wells Jacob , Slade Peter 
Published: October 2020

AbstractIn March 2019, China revoked the canola export licenses of two major Canadian exporters. We estimate the impact of these restrictions on Canadian canola prices. Using a vector error correction model to generate counterfactual prices, we estimate that between March 2019 and February 2020 canola prices were 3.6% lower than would have been expected in the absence of the import restrictions. We discuss the implications of our finding for both the ongoing negotiations between Canada and China and producer support in Canada.
Application of multicolour flow cytometry in the detection of metastatic carcinoma in serous effusions: Special emphasis in atypical cytology
Authors: Sahu Saumya , Gupta Parikshaa , Susheilia Shaily , Gautam Upasana , Dey Pranab 
Published: October 2020

AbstractIntroductionWe evaluated the role of simultaneous use of multiple antibodies in flow cytometry (FCM) to detect metastatic carcinomas in effusion samples.MethodsCytological examination of 75 successive cases of effusion samples was performed. There were 48 peritoneal, 26 pleural and one pericardial fluid. Multi‐coloured FCM examination was undertaken using a cocktail of CD45, CD14 and epithelial cell adhesion molecule (EpCAM), antibodies tagged with different fluorochromes. The percentage of EpCAM positivity was calculated in the CD45 and CD14 dual negative population by selective gating. The EpCAM value was correlated with the cytological findings, follow‐up data and MOC‐31 immunostaining.ResultsThere were 20 benign, 35 malignant and 20 atypical cases diagnosed on cytomorphology. The primary sources of carcinomas were mainly from the ovary, followed by lung, gall bladder, intestine and other areas. Out of 20 cytologically benign cases, there were two malignant cases on the final follow‐up, and EpCAM on FCM picked up all 18 benign cases and one malignant case. Out of 35 cytologically detected malignant cases, EpCAM picked up 32 malignant cases. The EpCAM detected 15/18 malignant and both benign cases out of 20 cytological atypical cases. EpCAM antibody by FCM showed 87% sensitivity, 100% specificity, 100% positive predictive value and 74% negative predictive value.ConclusionThis comprehensive study highlights the potential use of multi‐coloured FCM along with cytological examination to diagnose metastatic carcinoma in effusion samples. Multi‐coloured FCM is rapid and quantitative and is helpful in atypical cases.
Dual language statistical word segmentation in infancy: Simulating a language‐mixing bilingual environment
Authors: Tsui Angeline Sin Mei , Erickson Lucy C. , Mallikarjunn Amritha , Thiessen Erik D. , Fennell Christopher T. 
Published: October 2020

AbstractInfants are sensitive to syllable co‐occurrence probabilities when segmenting words from fluent speech. However, segmenting two languages overlapping at the syllabic level is challenging because the statistical cues across the languages are incongruent. Successful segmentation, thus, relies on infants’ ability to separate language inputs and track the statistics of each language. Here, we report three experiments investigating how infants statistically segment words from two overlapping languages in a simulated language‐mixing bilingual environment. In the first two experiments, we investigated whether 9.5‐month‐olds can use French and English phonetic markers to segment words from two overlapping artificial languages produced by one individual. After showing that infants could segment the languages when the languages were presented in isolation (Experiment 1), we presented infants with two interleaved languages differing in phonetic cues (Experiment 2). Both monolingual and bilingual infants successfully segmented words from one of the two languages—the language heard last during familiarization. In Experiment 3, a conceptual replication, we replicated the findings of Experiment 2 with a different population and with different cues. As before, when 12‐month‐old monolingual infants heard two interleaved languages differing in English and Finnish phonetic cues, they learned only the last language heard during familiarization. Together, our findings suggest that segmenting words in a language‐mixing environment is challenging, but infants possess a nascent ability to recruit phonetic cues to segment words from one of two overlapping languages in a bilingual‐like environment. A video abstract of this article can be viewed at https://www.youtube.com/watch?v=92pNcpxZguw.
Unicuspid aortic valve: Case series and review
Authors: Suraci Nicholas , Lo Presti Saberio , D’Mello Jayanand , Xydas Steve , Mihos Christos G. 
Published: October 2020

AbstractA unicuspid aortic valve is a very rare valvular lesion. Its physical manifestations vary and are associated with other cardiovascular abnormalities such as aortic stenosis/insufficiency and aortopathy. Echocardiography remains the modality of choice, with computerized tomography or cardiac magnetic resonance used as adjunctive imaging. Herein, we present a case series of three patients with unicuspid aortic valves treated at our institution, with a focus on 2D and 3D echocardiographic imaging.
Revealing hidden plant diversity in arid environments
Authors: Carrasco‐Puga Gabriela , Díaz Francisca P. , Soto Daniela C. , Hernández‐Castro Catalina , Contreras‐López Orlando , Maldonado Antonio , Latorre Claudio , Gutiérrez Rodrigo A. 
Published: October 2020

Estimating total plant diversity in extreme or hyperarid environments can be challenging, as adaptations to pronounced climate variability include evading prolonged stress periods through seeds or specialized underground organs. Short‐term surveys of these ecosystems are thus likely poor estimators of actual diversity. Here we develop a multimethod strategy to obtain a more complete understanding of plant diversity from a community in the Atacama Desert. We explicitly test environmental DNA‐based techniques (eDNA) to see if they can reveal the observed and ‘hidden' (dormant or locally rare) species.To estimate total plant diversity, we performed long‐term traditional surveys during eight consecutive years, including El Niño and La Niña events, we then analyzed eDNA from soil samples using high‐throughput sequencing. We further used soil pollen analysis and soil seed bank germination assays to identify ‘hidden' species. Each approach offers different subsets of current biodiversity at different taxonomic, spatial and temporal resolution, with a total of 92 taxa identified along the transect. Traditional field surveys identified 77 plant species over eight consecutive years. Observed community composition greatly varies interannually, with only 22 species seen every year. eDNA analysis revealed 37 taxa, eight of which were ‘hidden' in our field surveys. Soil samples contain a viable seed bank of 21 taxa. Soil pollen (27 taxa) and eDNA analysis show affinities with vegetation at the landscape scale but a weak relationship to local plot diversity.Multimethod approaches (including eDNA) in deserts are valuable tools that add to a comprehensive assessment of biodiversity in such extreme environments, where using a single method or observations over a few years is insufficient. Our results can also explain the resilience of Atacama plant communities as ‘hidden' taxa may have been active in the recent past or could even emerge in the future as accelerated global environmental change continues unabated.
Sex differences in social functioning of patients with schizophrenia depending on the age of onset and severity of the disease
Authors: Zorkina Yana , Morozova Anna , Abramova Olga , Reznik Alexander , Kostyuk Georgiy 
Published: October 2020

AbstractAimSchizophrenia manifests differently in women and men. This disease starts at a young age, leads to disability at working age. The aim of our work was to study sex differences, association between social factors and different parameters of the clinical picture and the course of the disease.MethodsThis study was performed using population of Russian patients (men: 345, women: 310). Patients were examined using DSM‐V, Bush‐Francis catatonia rating scale (BFCRS), Positive and Negative Syndrome Scale (PANSS), 4‐Items Negative Symptoms Assessment (NSA‐4) and Frontal Assessment Battery (FAB).ResultsSex differences were mainly shown through negative symptoms, which were more severe in male patients. Men were shown to experience a decrease in social functioning and earlier age of onset. A positive family history further influenced negative symptoms and age of onset. When comparing scores before and after inpatient treatment (4 weeks), sex differences were not so pronounced. Female patients and patients with high levels of education, no conflictual relationship with family and active labour activity showed a later age of onset of the prodromal events and manifestation age. The decrease in the number of social contacts correlated with lower age of disability. The association between social factors and the severity of psychotic symptoms was shown across DSM‐V, PANSS, NSA‐4 and FAB, but not for BFCRS. Social factors were associated with negative symptoms of schizophrenia, but not with positive.ConclusionFor successful treatment of patients with schizophrenia, the discussed factors must be considered and schizophrenia treatment methods should be primarily aimed at improving social functioning.
Transesophageal Echocardiography – Dysphagia Risk in Acute Stroke (TEDRAS): a prospective, blind, randomized and controlled clinical trial
Authors: Hamzic S. , Braun T. , Butz M. , Khilan H. , Weber S. , Yeniguen M. , Gerriets T. , Schramm P. , Juenemann M. 
Published: October 2020

Background and purposeDysphagia is common in acute stroke and leads to worse overall outcome. Transesophageal echocardiography (TEE) is used in the diagnostic evaluation of stroke with regard to its etiology and is a known cause of postoperative dysphagia in cardiac surgery. The prevalence of dysphagia in acute stroke patients undergoing TEE remains unknown. The aim of the Transesophageal Echocardiography – Dysphagia Risk in Acute Stroke (TEDRAS) study was to assess the influence of TEE on swallowing among patients who have experienced acute stroke.MethodsThe TEDRAS study was a prospective, blind, randomized, controlled trial that included two groups of patients with acute stroke. Simple unrestricted randomization was performed, and examiners were blinded to each other's results. Swallowing was tested using flexible endoscopic evaluation of swallowing (FEES) at three different time points in the intervention group (24 h before, immediately after and 24 h after TEE) and in the control group (FEES on three consecutive days and TEE earliest after the third FEES). Validated scales were used to assess dysphagia severity for all time points as primary outcome measures.ResultsA total of 34 patients were randomized: 19 to the intervention group and 15 to the control group. The key findings of the repeated‐measures between‐group comparisons were significant increases in the intervention group for the following dysphagia measures: (1) secretion severity score (immediately after TEE: P < 0.001; 24 h after TEE: P < 0.001) and (2) Penetration‐Aspiration Scale score for saliva (immediately after TEE: P < 0.001; 24 h after TEE: P = 0.007), for small (immediately after TEE: P = 0.009) and large liquid boli (immediately after TEE: P = 0.009; 24 h after TEE: P = 0.025).ConclusionThe results indicate a negative influence of TEE on swallowing in acute stroke patients for at least 24 hours.
Epstein–Barr virus infection after adolescence and human herpesvirus 6A as risk factors for multiple sclerosis
Authors: Biström M. , Jons D. , Engdahl E. , Gustafsson R. , Huang J. , Brenner N. , Butt J. , Alonso‐Magdalena L. , Gunnarsson M. , Vrethem M. , Bender N. , Waterboer T. , Granåsen G. , Olsson T. , Kockum I. , Andersen O. , Fogdell‐Hahn A. , Sundström Peter 
Published: October 2020

Background and purposeInfections with human herpesvirus 6A (HHV‐6A) and Epstein–Barr virus (EBV) have been linked to multiple sclerosis (MS) development. For EBV, late infection has been proposed as a risk factor, but serological support is lacking. The objective of this study was to investigate how age affects the EBV and HHV‐6A associated risks of developing MS.MethodsIn this nested case–control study, Swedish biobanks were accessed to find pre‐symptomatically collected blood samples from 670 individuals who later developed relapsing MS and 670 matched controls. A bead‐based multiplex assay was used to determine serological response against EBV and HHV‐6A. Conditional logistic regression was used to calculate odds ratios and 95% confidence intervals.ResultsSeropositivity against EBV exhibited a pattern where associations switched from a decreased risk of developing MS in the group below 20 years of age to an increased risk amongst individuals aged 20–29 and 30–39 years (p for trend 0.020). The age of transition was estimated to be 18.8 years. In contrast, HHV‐6A was associated with increased MS risk in all age groups (total cohort odds ratio 2.1, 95% confidence interval 1.6–2.7).ConclusionsThis study suggests EBV infection after adolescence and age independent HHV‐6A infection as risk factors for MS.