bluuebunny/crossref_metadata_2025_split huggingface dataset:
Novel loss-of-function variants in WDR26 cause Skraban-Deardorff syndrome in two Chinese patients
Authors: Yang Qi , Zhou Xunzhao , Yi Sheng , Li XiaoLing , Zhang Qiang , Zhang Shujie , Lin Li , Yi Shang , Chen Biyan , Qin Zailong , Luo Jingsi 
Published: September 2024

IntroductionMutations in the protein WD repeat structural domain 26 (WDR26, MIM 617424) have been identified as the cause of autosomal dominant Skraban-Deardorff syndrome, a rare genetic disorder characterized by intellectual disability (ID), developmental delay (DD), hypotonia, epilepsy, infant feeding difficulties, gait abnormalities and distinctive facial features. The objective of this study is to investigate the genetic factors that may contribute to the development of Skraban-Deardorff syndrome in affected individuals.MethodsIn this study, we used whole-exome sequencing (WES) to analyze pathogenic and likely pathogenic variants in two unrelated Chinese patients with DD and ID. We confirmed the origin of the variants by conducting Sanger sequencing and classified them according to ACMG/AMP guidelines.ResultsHere, two novel de novo variants (c.1797delC(p.His599fs*11) and c.1414C&gt;T(p.Gln472*)) in the WDR26 gene have been identified in two Chinese patients with Skraban-Deardorff syndrome. These patients exhibit a range of symptoms, including varying degrees of ID, DD, speech delay, an abnormal wide-foot and/or stiff-legged gait, facial dysmorphism, behavioural abnormalities, with or without seizures.ConclusionsIn this study, We report two unrelated Chinese patients with Skraban-Deardorff syndrome caused by novel de novo pathogenic variants of the WDR26 gene. These patients showed a clinical phenotype similar to that of patients with the WDR26 variant. Compared to reported cases with WDR26 pathogenic variants, patient 2 presented a novel complication of severe behavioural problems, including hyperactivity, social anxiety, self-mutilation, impulsivity and violent behaviour. This research broadens the range of genetic and clinical features of Skraban-Deardorff syndrome. In addition, the symptoms may become more pronounced as the patient ages. Furthermore, our report highlights the clinical diversity of Skraban-Deardorff syndrome. The findings may assist healthcare professionals in providing more accurate genetic testing and counselling to affected families and improving the overall management of the condition.
Lateral column lengthening versus subtalar arthroereisis for pes planovalgus in patients with cerebral palsy: a systematic review and meta-analysis
Authors: Lin Chang-Hao , Chen Chun-Ho , Yao Shu-Hsin 
Published: September 2024

IntroductionAlthough pes planus, a common deformity in children with cerebral palsy (CP), is predominantly treated through lateral column lengthening (LCL), subtalar arthroereisis (SA) has also gained popularity for this purpose. This systematic review was conducted to compare surgical outcomes between LCL and SA for pes planovalgus in children with CP.MethodsPubMed, EMBASE, Cochrane Library, and Google Scholar were comprehensively searched for relevant articles reporting the outcomes of LCL and SA in the target population. Surgical outcomes were evaluated in terms of radiographic parameters and postoperative complications.ResultsThis review included 22 studies involving patients undergoing LCL (LCL group) and 9 studies involving those undergoing SA (SA group). LCL outperformed SA in terms of corrections in the talonavicular coverage angle (8.1°–42.1° vs. 8.0°–30.7°), anteroposterior talo–first metatarsal angle (12.3°–33.7° vs. 9.8°–21.4°), and calcaneal pitch angle (2.5°–29.7° vs. 3.5°–8.0°). Furthermore, the risk of postoperative complications, such as recurrence, pain, undercorrection, and overcorrection, was higher in the LCL group than in the SA group. However, the risks of reoperation and implant-related problems were higher in the SA group than in the LCL group. A meta-analysis of two randomized studies revealed that improvement in calcaneal pitch angle was significantly greater in the LCL group than in the SA group (mean difference: 2.09°; P = 0.0488).ConclusionLCL outperforms SA in correcting pes planus–related radiographic parameters in patients with CP. However, postoperative complications appear to be more common after LCL than after SA.Systematic Review Registrationhttps://inplasy.com/inplasy-2024-5-0126, Identifier 202450126.
Substituting partial chemical nitrogen fertilizers with organic fertilizers maintains grain yield and increases nitrogen use efficiency in maize
Authors: Wang Le , Zhou Hongliang , Fei Cong 
Published: September 2024

IntroductionLong-term application of excessive nitrogen (N) not only leads to low N use efficiency (NUE) but also exacerbates the risk of environmental pollution due to N losses. Substituting partial chemical N with organic fertilizer (SP) is an environmentally friendly and sustainable fertilization practice. However, the appropriate rate of SP in rainfed maize cropping systems in semi-arid regions of China is unknown.MethodsTherefore, we conducted a field experiment between 2021 and 2022 in a semi-arid region of Northern China to investigate the effects of SP on maize growth, carbon and N metabolism (C/NM), and NUE. The following treatments were used in the experiment: no N application (CK), 100% chemical N (SP0, 210 kg N ha–1), and SP substituting 15% (SP1), 30% (SP2), 45% (SP3), and 60% (SP4) of the chemical N. The relationship between these indicators and grain yield (GY) was explored using the Mantel test and structural equation modeling (SEM).Results and discussionThe results found that the SP1 and SP2 treatments improved the assimilates production capacity of the canopy by increasing the leaf area index, total chlorophyll content, and net photosynthetic rate, improving dry matter accumulation (DMA) by 6.2%–10.6%, compared to the SP0 treatment. SP1 and SP2 treatments increased total soluble sugars, starch, free amino acids, and soluble protein contents in ear leaves via increasing the enzymatic reactions related to C/NM in ear leaves during the reproductive growth stage compared with SP0 treatment. The highest plant nitrogen uptake (PNU) and nitrogen recovery efficiency were obtained under the SP2 treatment, and the GY and nitrogen agronomic efficiency were higher than the SP0 treatment by 9.2% and 27.8%. However, SP3 and SP4 treatments reduced DMA and GY by inhibiting C/NM in ear leaves compared to SP0 treatment. Mantel test and SEM results revealed that SP treatments indirectly increased GY and PNU by directly positively regulating C/NM in maize ear leaves. Therefore, in the semi-arid regions, substituting 30% of the chemical N with SP could be considered. This fertilizer regime may avoid GY reduction and improve NUE. This study provides new insights into sustainable cultivation pathways for maize in semi-arid regions.
The correlation between embryo rescue and hormonal changes in seedless grapes
Authors: Li Guirong , Li Kaiwei , Lu Yihai , Fan Xiucai , Wang Ling 
Published: September 2024

After normal pollination and fertilization of pseudoparthenocarpic seedless grapes, their embryos often stop developing due to certain developmental factors, resulting in embryo abortion. Hybrid breeding using seedless grapes as the maternal parent requires embryo rescue breeding technology. This technology plays a crucial role in seedless grape breeding. Although previous studies have extensively explored this technology, knowledge regarding its impact on embryo abortion and the effectiveness of rescue techniques remains limited. This study aimed to investigate the correlation between embryo rescue and hormonal changes in seedless grapes. Four Eurasian seedless grape cultivars, “Thompson Seedless,” “Flame Seedless,” “Heshi Seedless,” and “Ruby Seedless,” were selected for examination. We investigated endogenous hormone levels, including indole-3-acetic acid (IAA), gibberellic acid (GA3), and abscisic acid (ABA), in both berries and in vitro ovules during the most suitable embryo rescue time for these cultivars. Based on the observed fluctuations in endogenous hormone levels and previous research findings, appropriate doses of exogenous hormones, such as IAA, GA3, and ABA, were applied during seedless grape embryo rescue. The results indicated significant differences in endogenous hormone levels between berries with varying ovule counts of the same cultivar and ovules cultured in vitro, suggesting a hormonal influence on ovule abortion and embryo development in seedless grapes. Further research has identified effective ratios of exogenous hormones: 30 mg·L–1 IAA + 30 mg·L–1 ABA for berry ovule development, 1.0 mg·L–1 IAA + 2.0 mg·L–1 6-benzylaminopurine (6-BA) + 1.0 mg·L–1 GA3 + 1.0 mg·L-1 ABA for in vitro ovule development, and 1.0 mg·L–1 IAA + 2.0 mg·L–1 6-BA + 1.0 mg·L–1 GA3 for embryo germination and seedling formation. In summary, hormonal changes significantly influence ovule and embryo development and are closely related to seedless grape embryo rescue breeding. This study deepened our understanding of the correlation between seedless grape embryo rescue and hormonal changes. It also resulted in the successful production of a batch of embryo rescue seedlings, further improving embryo rescue breeding technology and providing new germplasm materials for developing new seedless grape cultivars.
Correlation between organizational support, self-efficacy, and core competencies among long-term care assistants: a structural equation model
Authors: Liu Ankang , Wang Dong , Xu Shanshan , Zhou Yixia , Zheng Yao , Chen Juan , Han Biyuan 
Published: September 2024

IntroductionLong-term care assistants are taking on more important roles in the healthcare system. The purpose of this study was to investigate what demographic factors influence the core competencies of nursing assistants, as well as to investigate the levels of organizational support, self-efficacy, and core competencies among nursing assistants in China, to explore the relationship between them.MethodsThis is a cross-sectional study with prospective data collection based on a self-report questionnaire. A total of 320 long-term care assistants from two healthcare institutions. We collected socio-demographic characteristics and measured their perceived organizational support, self-efficacy, and core competency levels of the participants. Pearson correlation tests were conducted to examine the relationships among three variables, and a structural equation model was developed to test the interrelationships among these variables.ResultsThe results indicated that age, employment type, licensing status, monthly income, pre-job training, and training methods were associated with core competency, with nursing knowledge identified as a weak area in core competencies. There were significant associations among each dimension of perceived organizational support, self-efficacy, and core competencies (p &lt; 0.01). The structural equation model demonstrated good fit: X2/df = 2.486, GFI = 0.974, CFI = 0.988, IFI = 0.988, TLI = 0.977, RMSEA = 0.068, SRMR = 0.013. The direct effect of organizational support on core competencies was 0.37, with self-efficacy mediating the relationship between organizational support and core competencies, yielding an indirect effect of 0.122 and a total effect coefficient of 0.492 (all p &lt; 0.001).ConclusionTraining in core competencies should prioritize nursing knowledge. Enhanced perceived organizational support and self-efficacy among nursing assistants were associated with higher core competencies.
Understanding levels of engagement and readiness for change in an eHealth sleep program for children with neurodevelopmental disorders
Authors: Wildeboer Emily M. , Andrea Brooklyn , Weiss Shelly , Corkum Penny 
Published: September 2024

BackgroundChildren with neurodevelopmental disorders (NDD) experience high rates of sleep problems. The Better Nights, Better Days for Children with Neurodevelopmental DisordersTM(BNBD-NDDTM) program is an online intervention for parents of children with NDD who have insomnia/insomnia symptoms. The program has recently undergone a national implementation study (recruitment completed; data collection and analysis ongoing), where parental adherence and engagement are being evaluated. Preliminary results have shown that despite high levels of recruitment, there is less utilization of the program than the research team expected. Parental engagement may have been impacted by participants' motivation and readiness for change, as well as indirectly by the COVID-19 pandemic. The objective of the current study is to better understand engagement with the BNBD-NDDTM program concerning parental motivation and readiness for change, while considering the possible impacts of COVID-19.MethodsParents of children with NDD (n = 18) who were enrolled in the BNBD-NDDTM program for a minimum of 4 months completed exit interviews using a researcher-generated, semi-structured interview guide. During the interview, participants were asked about their engagement in the program, perspectives on their own readiness for changing their children's sleep, and the impact of COVID-19 on their engagement. Data were analyzed following an inductive content analysis approach.ResultsSeveral categories of data were generated that explain levels of engagement, including: (1) severity of sleep problems; (2) motivation for change; (3) previous strategies for sleep; (4) confidence in the program; (5) sacrifices made to change sleep; (6) maintenance of change; (7) experience with levels of support provided; and (8) impact of the COVID-19 pandemic.ConclusionParents identified several factors related to their readiness for change as contributors to their engagement level in the BNBD-NDDTM program. The COVID-19 pandemic had varied impacts on engagement for participants in this sample. Understanding parents' engagement levels within the BNBD-NDDTM eHealth program related to their motivation and readiness for change is crucial to optimize uptake and adherence to the program, improve the program's implementation and sustainability, and continue to help children with NDD to sleep better.
The European Researchers’ Network Working on Second Victim (ERNST) Policy Statement on the Second Victim Phenomenon for Increasing Patient Safety
Authors: Mira Jose , Carillo Irene , Tella Susanna , Vanhaecht Kris , Panella Massimiliano , Seys Deborah , Ungureanu Marius-Ionut , Sousa Paulo , Buttigieg Sandra C. , Vella-Bonanno Patricia , Popovici Georgeta , Srulovici Einav , Guerra-Paiva Sofia , Knezevic Bojana , Lorenzo Susana , Lachman Peter , Ushiro Shin , Scott Susan D. , Wu Albert , Strametz Reinhard 
Published: September 2024

BackgroundThe second victim phenomenon refers to the emotional trauma healthcare professionals experience following adverse events (AEs) in patient care, which can compromise their ability to provide safe care. This issue has significant implications for patient safety, with AEs leading to substantial human and economic costs.AnalysisCurrent evidence indicates that AEs often result from systemic failures, profoundly affecting healthcare workers. While patient safety initiatives are in place, the psychological impact on healthcare professionals remains inadequately addressed. The European Researchers’ Network Working on Second Victims (ERNST) emphasizes the need to support these professionals through peer support programs, systemic changes, and a shift toward a just culture in healthcare settings.Policy OptionsKey options include implementing peer support programs, revising the legal framework to decriminalize honest errors, and promoting just culture principles. These initiatives aim to mitigate the second victim phenomenon, enhance patient safety, and reduce healthcare costs.ConclusionAddressing the second victim phenomenon is essential for ensuring patient safety. By implementing supportive policies and fostering a just culture, healthcare systems can better manage the repercussions of AEs and support the wellbeing of healthcare professionals.
Agenesia de vesícula biliar em adolescente – relato de caso
Authors: Carvalho Guilherme Amantéa Costa , Silva Tacio Antonio Barros , Andreu Aline Truzzi , Meneghesso Beatriz Rosa , Mario Guilherme Murari , Gandolfi Julia Dosualdo , Paro Guilherme Augusto , Oliveira Ana Izabel Ribeiro de , Braga João Gabriel Romero 
Published: September 2024

A vesícula biliar é um órgão em formato de pera cuja principal função é o armazenamento da bile. Este órgão está sujeito a diversas anomalias, incluindo numéricas, de localização, morfologia e mais raramente, agenesia da vesícula biliar em que o órgão não se desenvolve ou não é encontrado nos locais atípicos mais comuns. Em 2018, três séculos após a primeira menção de agenesia de vesícula na literatura, apenas 500 casos haviam sido relatados. Assim, aliada à escassa literatura que se resume basicamente em relatos de casos únicos e à ausência de um consenso sobre o diagnóstico, tratamento e acompanhamento, a agenesia de vesícula se torna um dilema para radiologistas e cirurgiões. Dessa forma, o diagnóstico muitas vezes ocorre no intraoperatório, devido às características clínicas variáveis e sintomas que muitas vezes mimetizam os de uma colelitíase ou colecistite aguda. O conhecimento prévio do quadro clínico, experiência do médico cirurgião e radiologista é fundamental para favorecer o diagnóstico pré-operatório.
Bimbingan Kelompok Mengunakan Teknik Cinematherapy Untuk Meningkatkan Pemahaman Kepercayaan Diri Peserta Didik
Authors: Sriyani  , Sendayu Fendahapsari Singgih , Suriatie Mimi 
Published: September 2024

Kepercayaan diri adalah keyakinan yang dimiliki setiap individu terhadap dirinya sendiri atas segala hal yang mereka lakukan. Permasalahan yang dialami oleh perserta didik adalah rendahnya kepercayaan diri terkait dengan keyakinan akan kemampuan dalam diri sendiri, optimis, objektif, bertanggung jawab, rasional, berani dan mampu menyesuaikan diri. Tujuan dari penelitian ini adalah untuk melihat efektifitas layanan bimbingan kelompok menggunakan teknik Cinematherapy untuk meningkatkan pemahaman kepercayaan diri pada peserta didik dikelas XI MIPA 6 SMAN 2 Palangka Raya yang masih rendahnya pemahaman peserta didik terkait kepercayaan diri. Penelitian ini menggunakan penelitian eksperimen dengan desin one group pretest- posttest desain. Jumlah populasi dalam penelitian 50 peserta didik dan sampel berjumlah 6 peserta didik. Teknik pengumpulan data yang digunakan angket, wawancara, observasi, dokumentasi, buku, artikel, jurnal. Penghitungan data terdistrubusi normal, menggunakan statistic parametrik Kolmogrov-Smirnov dan perhitungan uji-t menggunakan uji paired sampel t test dengan batuan (Program SPSS Versi 25). Analisis data menggunakan Uji normalitas dan Uji-t. dengan kriteria pengujian hipotesis negatif, nilai t-tabel yaitu 22,345 kurang dari 2,015. Dapat disimpulkan bahwa bimbingan kelompok menggunakan teknik Cinematherapy efektif untuk meningkatkan pemahaman kepercayaan diri pada peserta didik dikelas XI MIPA 6 SMAN 2 Palangka Raya.
Zooming in on what counts as core and auxiliary: A case study on recognition models of visual working memory
Authors: Robinson Maria M. , Williams Jamal R. , Wixted John T. , Brady Timothy F. 
Published: September 2024

AbstractResearch on best practices in theory assessment highlights that testing theories is challenging because they inherit a new set of assumptions as soon as they are linked to a specific methodology. In this article, we integrate and build on this work by demonstrating the breadth of these challenges. We show that tracking auxiliary assumptions is difficult because they are made at different stages of theory testing and at multiple levels of a theory. We focus on these issues in a reanalysis of a seminal study and its replications, both of which use a simple working-memory paradigm and a mainstream computational modeling approach. These studies provide the main evidence for “all-or-none” recognition models of visual working memory and are still used as the basis for how to measure performance in popular visual working-memory tasks. In our reanalysis, we find that core practical auxiliary assumptions were unchecked and violated; the original model comparison metrics and data were not diagnostic in several experiments. Furthermore, we find that models were not matched on “theory general” auxiliary assumptions, meaning that the set of tested models was restricted, and not matched in theoretical scope. After testing these auxiliary assumptions and identifying diagnostic testing conditions, we find evidence for the opposite conclusion. That is, continuous resource models outperform all-or-none models. Together, our work demonstrates why tracking and testing auxiliary assumptions remains a fundamental challenge, even in prominent studies led by careful, computationally minded researchers. Our work also serves as a conceptual guide on how to identify and test the gamut of auxiliary assumptions in theory assessment, and we discuss these ideas in the context of contemporary approaches to scientific discovery.
Percepción de Cuidados Perdidos en Familiares de Personas Hospitalizadas en Ciudad Salud, Atapaneo, Michoacán
Authors: Jiménez Valdez María Cleofás , Valadez Cisneros Ana Adelaida , Ortiz Mendoza Guadalupe , Guzmán Vega Esmeralda , Vargas Peña Josué 
Published: September 2024

Introducción. Los cuidados perdidos son cualquier aspecto de la atención que requiera el paciente que se omite o se retrasa significativamente. Los cuidados perdidos afectan el progreso y dañan la integridad de las personas que no reciben cuidados. Objetivo. Analizar la percepción de los cuidados perdidos en familiares de personas hospitalizadas en Ciudad Salud, Atapaneo, Michoacán. Metodología. Estudio cuantitativo, diseño observacional, descriptivo y transversal. Muestra no probabilística de 138 familiares de personas hospitalizadas. Instrumento: MISSCARE con 28 ítems. Se utilizó estadística descriptiva. Resultados. Mayoría de familiares de personas hospitalizadas fueron mujeres (69.6%), casados (45.7%), dedicados al campo (49.3%), universitarios (39.9%) y con media de 38.21 años (DE = 13.55) de edad; 54.3% es el cuidador principal, media de 19.18 días (DE=41.90) de tiempo de cuidado al paciente y media de 2.63 (DE=1.34) de personas que cuidan. Mayoría de pacientes fue mujer (54.1%), casados (57.2%), 55.1% con patología de medicina interna, con media de 51.02 años (DE=20.80) de edad y media de 19.18 días (DE=41.90) de tiempo de hospitalización. Respecto al cuidado perdido, 53.6% de los familiares lo consideran como nunca omitido. Conclusiones. Cinco de cada 10 familiares de pacientes consideran que el cuidado en enfermería nunca se omite.
Eficacia del Entrenamiento Otago para Mejorar Equilibrio y Reducir Riesgo de Caídas en Adultos Mayores
Authors: Márquez Celedonio Félix Guillermo , Alvarado Mañón Alexandra , Ponce Díaz Erick , Morales Sánchez Kevin Obed , Estrada López Diana Jazmín 
Published: September 2024

Las caídas en adultos mayores son accidentes con alta prevalencia que se asocian a pérdida de la calidad de vida y muertes; estrategias fisioterapéuticas como el entrenamiento Otago permiten mejorar las condiciones físicas y reducir su riesgo. El objetivo de la investigación fue determinar la eficacia del entrenamiento Otago para mejorar el equilibrio y reducir riesgo de caídas en adultos mayores para lo cual se realizó una intervención experimental con grupo control y asignación aleatoria. Para medir el efecto de las intervenciones se aplicaron a 25 participantes en cada grupo la escala de Downton, la prueba de Tinetti y el test time up and go al inicio y final del estudio. Con entranamiento Otago 8 (32.0%) sujetos se clasificaron en riesgo alto en la medición basal Downton y al final 21 (84.0%) en riesgo bajo y 0 (0.0%) en alto (p < 0.01); con prueba de Tinetti riesgo alto en 7 (28.0%) al inicio y 0 (0.0%) al final (p < 0.001) y tiempo de marcha 22.8 ± 12.7 seg., al inicio y 12.1 ± 7.4 seg., al final (p < 0.001). Entrenamiento Otago tiene eficacia significativa para mejorar el equilibrio, la marcha y reducir la dependencia en adultos mayores.