bluuebunny/crossref_metadata_2025_split huggingface dataset:
Parental diagnostic delay and developmental outcomes in congenital and childhood‐onset myotonic dystrophy type 1
Authors: Trucco Federica , Albamonte Emilio , Pane Marika , Ricci Federica , D'amico Adele , Astrea Guja , Moroni Isabella , Pini Antonella , Fiorillo Chiara , Berardinelli Angela , Johnson Nicholas E. , Sansone Valeria A. ,   The DM1 Paediatric Working Group
Published: September 2024

AimTo investigate the timing of type 1 myotonic dystrophy (DM1) diagnosis in parents of affected children and describe children's perinatal characteristics and developmental outcomes.MethodThis was a descriptive case series of children with congenital myotonic dystrophy (CDM) and childhood‐onset myotonic dystrophy (ChDM). Parental timing of DM1 diagnosis and the perinatal, motor, and cognitive outcomes of paediatric patients were recorded.ResultsA total of 139 children followed by 12 highly specialized tertiary care neuromuscular centres in Italy and one tertiary neuromuscular centre in the USA were included: 105 children with CDM and 34 children with ChDM (mean age 8 years 8 months and 12 years 2 months respectively; 49 males and 17 males respectively). Seventy (50%) parents were diagnosed with adult‐onset DM1 after the affected child was diagnosed. Only 12 (17%) of the 69 parents known to be affected had prenatal testing.Of the 105 children with CDM, 98% had maternally inherited CDM, 36% were born preterm, 83% required a stay in the neonatal intensive care unit for more than 48 hours, 84% and 79% had ambulation and speech delay, and 84% had an IQ lower than 70. Of the 34 children with ChDM, 59% had paternally inherited ChDM, 91% were born at term, and 36% had an IQ lower than 70.InterpretationDelay in diagnosing DM1 affects family planning. The prenatal and perinatal outcomes of the affected offspring emphasize the need for proactive counselling as parents may be reluctant to conduct prenatal testing.
Birthweight influences liver structure, function and disease risk: Evidence of a causal association
Authors: Peng Lei , Shen Jiajia , Li Lurong , Liu Jiahao , Jiang Xingzhou , Zhang Guoxin , Li Yuanyuan 
Published: September 2024

AbstractAimLow birthweight is an issue during pregnancy associated with an increased risk of developing liver disease later in life. Previous Mendelian randomisation (MR) studies which explored this issue have not isolated the direct impact of the foetus on birthweight. In the present study, MR was used to assess whether direct foetal effects on birthweight were causally associated with liver structure, function and disease risk independent of intrauterine effects.Materials and MethodsWe extracted single nucleotide polymorphisms (SNPs) from genome‐wide association studies (GWAS) about direct foetal‐affected birthweight (321 223 cases) to conduct univariable and multivariable MR analyses to explore the relationships between birthweight and 4 liver structure measures, 9 liver function measures and 18 liver diseases. A two‐step MR analysis was used to further assess and quantify the mediating effects of the mediators.ResultsWhen isolating direct foetal effects, genetically predicted lower birthweight was associated with a higher risk of non‐alcoholic fatty liver disease (NAFLD) (odds ratios [OR], 95% confidence interval [CI]: 1.61, 1.29–2.02, p < 0.001), higher magnetic resonance imaging [MRI] proton density fat fraction (PDFF) and higher serum gamma glutamyltransferase (GGT). Two‐step MR identified two candidate mediators that partially mediate the direct foetal effect of lower birthweight on NAFLD, including fasting insulin (proportion mediated: 22.29%) and triglycerides (6.50%).ConclusionsOur MR analysis reveals a direct causal association between lower birthweight and liver MRI PDFF, as well as the development of NAFLD, which persisted even after accounting for the potential influence of maternal factors. In addition, we identified fasting insulin and triglycerides as mediators linking birthweight and hepatic outcomes, providing insights for early clinical interventions.
Drivers of Perceived Value for an Alumni Association, and the Effect of Perceived Value and Satisfaction on Alumni Loyalty
Authors: Baumann Jan K. , Halpern Nigel 
Published: September 2024

ABSTRACTAlumni associations are established by higher education institutions to formalise relationships with alumni, and to nurture alumni loyalty over time. This study investigates drivers of perceived value for an alumni association, and the effects that perceived value and satisfaction have on alumni loyalty. Data were collected from 1711 respondents to an online survey of alumni at a university college in Norway. Responses were analysed using partial least squares structural equation modelling. Findings reveal that service quality of alumni activities and attractive quality of the association drive perceived value. Satisfaction among those that have participated in alumni activities has a significant moderating effect on the relationship between perceived value and alumni loyalty. However, the direct effect of perceived value on alumni loyalty is not significant, meaning that perceived value alone is not enough to drive alumni loyalty. It is necessary to also achieve satisfaction among participants.
Median nerve lesions in pediatric displaced supracondylar humerus fracture: A prospective neurological, electrodiagnostic and ultrasound characterization
Authors: Schädlich Ines Sophie , Buschbaum Sabriena , Magnus Tim , Reinshagen Konrad , Wintges Kristofer , Gelderblom Mathias 
Published: September 2024

AbstractBackground and PurposeSupracondylar humerus fractures (SCHFs) are the most common elbow fractures in children. Traumatic median nerve injury and isolated lesions of its pure forearm motor branch, anterior interosseus nerve (AIN), have both been independently reported as complications of displaced SCHFs. Our main objectives were to characterize the neurological syndrome to distinguish median nerve from AIN lesions and to determine the prognosis of median nerve lesions after displaced SCHFs.MethodsTen children were prospectively followed for an average of 11.6 months. Patients received a standardized clinical examination and high‐resolution ultrasound of the median nerve every 1–3 months starting 1–2 months after trauma. Electrodiagnostic studies were performed within the first 4 months and after complete clinical recovery.ResultsAll children shared a clinical syndrome with predominant but not exclusive affection of AIN innervated muscles. High‐resolution ultrasound uniformly excluded persistent nerve entrapment and neurotmesis requiring revision surgery but visualized post‐traumatic median nerve neuroma at the fracture site in all patients. Electrodiagnostic studies showed axonal motor and sensory median nerve neuropathy. All children achieved complete functional recovery under conservative management. Motor recovery required up to 11 months and differed between involved muscles.ConclusionsIt was shown that neurological deficits of the median nerve in displaced SCHFs exceeded an isolated AIN lesion. Notably, detailed neurological follow‐up examinations and sonographic exclusion of persistent nerve compression were able to guide conservative therapy in affected children. Under these conditions the prognosis of median nerve lesions was excellent despite severe initial deficits, development of neuroma and axonal injury.
The political economy of open contracting reforms in low‐ and middle‐income countries
Authors: Adam Isabelle , Dávid‐Barrett Elizabeth , Fazekas Mihály 
Published: September 2024

AbstractTransparency reforms make government contracting more open and amenable to public scrutiny, helping to improve public spending efficiency. But they are also politically sensitive, complex and highly technical, which makes them especially difficult to implement if state capacity is weak. Our research on nine low‐ and middle‐income countries in Africa and Asia systematically assesses progress in improving the legal framework for procurement transparency and implementing systems that allow open access to data, between 2008 and 2019. Through interviews with key informants, we explore the reasons for progress or its absence, finding that success relies on strong leadership commitment, broad coalitions of state and non‐state actors, and sufficient technical capacity. Leadership commitment ensures that implementing bodies have the appropriate mandate and resources, while broad coalitions sustain commitment and harness external technical assistance. Both factors are best achieved by framing the reforms as a way of improving efficiency rather than fighting corruption.
Phylogenomic identification and overexpression of plant size–related genes in Setaria viridis and rice
Authors: Prakash Chudamani Sharma , Li Jieqin , Bible Paul W. , Collins Carina A. , Tu Wenmiao , Xu Jingyi , Wang Yi‐Hong 
Published: September 2024

AbstractPlant size is a critical component of agricultural productivity as larger plants produce more biomass. To identify genes related to plant size, we grouped C4 grasses into small and large and used OrthoFinder to find orthologous genes present in large but absent in small grasses. Three such genes were identified from sorghum (Sorghum bicolor [L.] Moench) by phylogenomic approach, and they encode nitrate transporter (Sobic.007G213200), oxysterol binding protein (SbRio.01G578800) and thioredoxin reductase (SbRio.05G168300), respectively. Overexpression of all three genes driven by the maize ubiquitin promoter in Setaria viridis (L.) Beauv. indicates that they all affected plant size as measured by plant height and tiller number. Both nitrate transporter and oxysterol binding protein increased plant height and tiller number, and thioredoxin reductase significantly decreased tiller number but had minimal effect on plant height. In rice (Oryza sativa L.), all three constructs reduced plant height significantly. The only commonality between the transgenic species was that nitrate transporter and oxysterol binding protein increased tiller number in both S. viridis and rice. Overall, we have demonstrated that phytogenomic approach can be used to identify genes responsible for large plant size in the grasses.
Social presence and other individual differences in asynchronous English communication
Authors: Shinozaki Fumiya 
Published: September 2024

AbstractThis study discusses the relationship among various factors in English communication, including social presence, international posture (IP), willingness to communicate (WTC), second language learning motivation, and English proficiency. The hypothesis was that IP (having things to communicate to the world) would affect social presence, but WTC would augment its effect on social presence. To confirm this as well as the positioning of social presence in English learning, structural equation modeling was performed on the survey responses of 325 undergraduate students in Japan. The first model revealed that the path from IP to social presence was not significant but the indirect effect of WTC on social presence was. Since the model did not show a good fit, it was improved by eliminating the insignificant path and assuming covariance among the error variables. As a result, the final model showed a good fit. Within the same model, the path from IP to English proficiency via WTC and motivation and the path from IP to social presence via WTC were found to be moderately influential. In other words, the model explains that as IP increases, social presence via WTC and English proficiency via WTC and motivation also increase.
Overview of the potential of pine nuts (Araucaria angustifolia) in new food options and films: an approach on quality, versatility and sustainability
Authors: Salvadori Natalia Maldaner , da Conceição das Mercês Ziane , Evangelista Sabrina Melo , Cochlar Tatiana Barbieri , de Oliveira Rios Alessandro , de Oliveira Viviani Ruffo 
Published: September 2024

SummaryPine nuts (Araucaria angustifolia) are naturally distributed in South America and are increasingly being used as a food ingredient. This article aims to evaluate studies that have demonstrated the potential of pine nuts, their applicability in food products and biofilms using this raw material. Detailed search strategies were implemented in each of the selected databases. The results revealed that pine nuts are widely used as food ingredients due to their nutritional value and mild flavour, which allows for the development of different innovative product formulations. The analysis of the studies showed that pine nut seeds can be used as flour, pulp, shell, starch and extract and from these generate other new products. Pine nuts‐based products contain significant amounts of fibre, starch, antioxidants, phenolic compounds and proteins. As for the sensory aspects, the assessors showed good acceptance of the attributes. Incorporation into biofilms could also favour the future of sustainable and antioxidant packaging. Access to new options could increase vegetable productivity and boost new products, favouring the economy, adding nutritional value and expanding sustainability possibilities.
Effect of collagen in Italian type salami with NaCl reduction on the physicochemical and technological properties
Authors: Alves Junior Carlos Alberto , Bellucci Elisa Rafaela Bonadio , Bertuci Marcello Lima , dos Santos João Marcos , Barretto Andrea Carla da Silva 
Published: September 2024

SummarySalami is a fermented meat product with a controlled fermentation process, generally with the addition of specific bacteria that improve flavour and texture properties as well as contribute to safety. Also, other additives such as collagen can be used, due to their functional properties that are incorporated in these products. The objective of this study was to evaluate the effects of adding collagen to Italian type salami with reduced NaCl on the water activity, ripening time and physicochemical properties. Six treatments were carried out, three with 2.5% sodium chloride (NaCl): without collagen (CON), 0.25% collagen (T25), 0.5% collagen (T50) and three with 1.25% NaCl: without collagen (TR), 0.25% collagen (TR25), 0.5% collagen (TR50). Collagen improved the texture parameters of Italian type salami with NaCl reduction, as well as contributing to an increase in moisture and a reduction in Aw. The addition of 0.5% collagen reduced the ripening time of Italian type salami, reaching a water activity <0.91. Thus, collagen is an ingredient with potential for use in the production of Italian type salami with reduced NaCl, contributing to the improvement of its physicochemical and technological properties.
Comparative analysis of furan contents and physicochemical properties of various nuts roasted using an air fryer and microwave oven
Authors: Ha Seungwoo , Choi Eunyeong , Lee Kwang‐Geun 
Published: September 2024

SummaryThis study compared the furan levels and physicochemical properties of various 70 samples of five nuts (peanuts, almonds, cashew nuts, hazelnuts, and sacha inchi) roasted using an air fryer (AF) and microwave oven (MO). In the five nuts, furan levels ranged from 1.11 to 2.39 ng g−1 before roasting. As the AF‐based and MO‐based roasting progressed, the furan levels increased to 6.39–165.52 ng g−1 and 11.47–183.87 ng g−1, respectively. The contents of polyunsaturated fatty acids (linoleic acid and linolenic acid) decreased significantly after roasting but the content of monounsaturated fatty acid (oleic acid) showed only slightly significant differences between the control and roasted nuts. The total phenolic content and antioxidant activity increased by up to 337% and 218% as roasting progressed but decreased slightly when roasting was performed at 180 °C for 20 min in an AF or at 700 or 1000 W for 5 min in an MO. This study provides useful information on furan production and the changes in physicochemical properties such as fatty acid composition, colour, BI, TPC, and antioxidant activity of nuts roasted using an AF or MO.
Combined effects of high‐pressure processing and polysaccharides on the characteristics and microstructure of low‐salt threadfin bream surimi gel
Authors: Hongviangjan Worawan , Sompongse Warangkana 
Published: September 2024

SummaryImproving the characteristics of low‐salt protein products also enhanced gelation. The combined effects of high‐pressure processing (HPP) at 200 MPa for 10 min and polysaccharides (tamarind kernel powder; TKP and tapioca starch; TS) on low‐salt threadfin bream surimi (0.5% by surimi weight) were investigated on physicochemical properties (gel strength, expressible water, whiteness, and sulfhydryl group content) and protein structure [Fourier Transform Infrared Spectroscopy (FTIR), Scanning Electron Microscopy (SEM), and Confocal Laser Scanning Microscopy (CLSM)]. Higher gel strength and whiteness were observed in low‐salt surimi gel with HPP. Gels with polysaccharides and HPP also had lower expressible water values. Secondary structural alterations from α‐helix to β‐sheet were induced by the addition of polysaccharides and HPP. Low‐salt surimi gel with polysaccharides and HPP displayed a more compact network microstructure with small voids leading to higher gel strength.
Qualitative analysis of fumonisin content and their hydrolysed forms in Mexican diet foods: a perspective on consumption and food safety
Authors: Ocampo‐Acuña Yordin D. , Ramírez‐Cisneros M. Ángeles , Rios Maria Yolanda 
Published: September 2024

SummaryFood safety is crucial globally, particularly regarding mycotoxins in food. Mycotoxins, primarily found in cereals, can also contaminate animal products. In Mexico, staple foods like maize and animal products may contain fumonisins, mycotoxins from Fusarium fungi linked to various health issues. Type B fumonisins (FBs) and their hydrolysis products are particularly toxic to humans. This study analysed the most commonly consumed foods in the Mexican diet, selected based on data from Mexican government institutions. Samples were processed and dried at various temperatures according to the food type. To identify the most effective extraction method, each sample underwent testing under different extraction conditions. The presence of FB1, FB2, FB3, and their hydrolysed forms in the selected foods, as well as their relative concentrations, was determined using high‐performance liquid chromatography coupled with quadrupole time‐of‐flight mass spectrometry (HPLC‐MS‐QTOF). Therefore, this work aims to analyse the presence of fumonisins as contaminants in foods consumed by Mexicans, providing an analytical method for their inspection.
Combining genomics and semen microbiome increases the accuracy of predicting bull prolificacy
Authors: Alexandre Pâmela A. , Rodríguez‐Ramilo Silvia T. , Mach Núria , Reverter Antonio 
Published: September 2024

AbstractCommercial livestock producers need to prioritize genetic progress for health and efficiency traits to address productivity, welfare, and environmental concerns but face challenges due to limited pedigree information in extensive multi‐sire breeding scenarios. Utilizing pooled DNA for genotyping and integrating seminal microbiome information into genomic models could enhance predictions of male fertility traits, thus addressing complexities in reproductive performance and inbreeding effects. Using the Angus Australia database comprising genotypes and pedigree data for 78,555 animals, we simulated percentage of normal sperm (PNS) and prolificacy of sires, resulting in 713 sires and 27,557 progeny in the final dataset. Publicly available microbiome data from 45 bulls was used to simulate data for the 713 sires. By incorporating both genomic and microbiome information our models were able to explain a larger proportion of phenotypic variation in both PNS (0.94) and prolificacy (0.56) compared to models using a single data source (e.g., 0.36 and 0.41, respectively, using only genomic information). Additionally, models containing both genomic and microbiome data revealed larger phenotypic differences between animals in the top and bottom quartile of predictions, indicating potential for improved productivity and sustainability in livestock farming systems. Inbreeding depression was observed to affect fertility traits, which makes the incorporation of microbiome information on the prediction of fertility traits even more actionable. Crucially, our inferences demonstrate the potential of the semen microbiome to contribute to the improvement of fertility traits in cattle and pave the way for the development of targeted microbiome interventions to improve reproductive performance in livestock.
Damming of streams due to the construction of a highway in the Amazon rainforest favors individual trophic specialization in the fish (Bryconops giacopinii)
Authors: Barros Gabriel Gazzana , Silva Araújo Márcio , Takeshi Yogui Gilvan , Zuanon Jansen , Pereira de Deus Cláudia 
Published: September 2024

AbstractIn Amazonian streams, damming caused by road construction changes the system's hydrological dynamics and biological communities. We tested whether the degree of specialization in fish (Bryconops giacopinii) individuals is higher in pristine stream environments with intact ecological conditions than in streams dammed due to the construction of a highway in the Amazon rainforest. To achieve this, stomach content data and stable isotopes (δ13C and δ15N) in tissues with varying isotopic incorporation rates (liver, muscle, and caudal fin) were used to assess the variation in consumption of different prey over time. The indices within‐individual component (WIC)/total niche width (TNW) and individual specialization were employed to compare the degree of individual specialization between pristine and dammed streams. The condition factor and stomach repletion of sampled individuals were used to infer the intensity of intraspecific competition in the investigated streams. The species B. giacopinii, typically considered a trophic generalist, has been shown to be, in fact, a heterogeneous collection of specialist and generalist individuals. Contrary to our expectations, a higher degree of individual specialization was detected in streams dammed by the highway. In dammed streams, where intraspecific competition was more intense, individuals with narrower niches exhibited poorer body conditions than those with broader niches. This suggests that individuals adopting more restricted diets may have lower fitness, indicating that individual specialization may not necessarily be beneficial for individuals. Our results support the notion that intraspecific competition is an important mechanism underlying individual specialization in natural populations. Our results suggest that environmental characteristics (e.g., resource breadth and predictability) and competition for food resources interact in complex ways to determine the degree of individual specialization in natural populations.