bluuebunny/crossref_metadata_2025_split huggingface dataset:
Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions
Authors: Mohren Lars , Erdlenbruch Friedrich , Leitão Elsa , Kilpert Fabian , Hönes G. Sebastian , Kaya Sabine , Schröder Christopher , Thieme Andreas , Sturm Marc , Park Joohyun , Schlüter Agatha , Ruiz Montserrat , Morales de la Prida Moisés , Casasnovas Carlos , Becker Kerstin , Roggenbuck Ulla , Pechlivanis Sonali , Kaiser Frank J. , Synofzik Matthis , Wirth Thomas , Anheim Mathieu , Haack Tobias B. , Lockhart Paul J. , Jöckel Karl-Heinz , Pujol Aurora , Klebe Stephan , Timmann Dagmar , Depienne Christel 
Published: September 2024

AbstractRepeat expansions in FGF14 cause autosomal dominant late-onset cerebellar ataxia (SCA27B) with estimated pathogenic thresholds of 250 (incomplete penetrance) and 300 AAG repeats (full penetrance), but the sequence of pathogenic and non-pathogenic expansions remains unexplored. Here, we demonstrate that STRling and ExpansionHunter accurately detect FGF14 expansions from short-read genome data using outlier approaches. By combining long-range PCR and nanopore sequencing in 169 patients with cerebellar ataxia and 802 controls, we compare FGF14 expansion alleles, including interruptions and flanking regions. Uninterrupted AAG expansions are significantly enriched in patients with ataxia from a lower threshold (180–200 repeats) than previously reported based on expansion size alone. Conversely, AAGGAG hexameric expansions are equally frequent in patients and controls. Distinct 5’ flanking regions, interruptions and pre-repeat sequences correlate with repeat size. Furthermore, pure AAG (pathogenic) and AAGGAG (non-pathogenic) repeats form different secondary structures. Regardless of expansion size, SCA27B is a recognizable clinical entity characterized by frequent episodic ataxia and downbeat nystagmus, similar to the presentation observed in a family with a previously unreported nonsense variant (SCA27A). Overall, this study suggests that SCA27B is a major overlooked cause of adult-onset ataxia, accounting for 23–31% of unsolved patients. We strongly recommend re-evaluating pathogenic thresholds and integrating expansion sequencing into the molecular diagnostic process.
Phenazines are involved in the antagonism of a novel subspecies of Pseudomonas chlororaphis strain S1Bt23 against Pythium ultimum
Authors: Chi Sylvia I. , Akuma Mercy , Xu Renlin , Plante Véronique , Hadinezhad Mehri , Tambong James T. 
Published: September 2024

AbstractLong-term use of chemical fungicides to control plant diseases caused by fungi and oomycetes has led to pathogen resistance and negative impacts on public health and environment. There is a global search for eco-friendly methods and antagonistic bacteria are emerging as alternatives. We isolated a potent antagonistic bacterial strain (S1Bt23) from woodland soil in Québec, Canada. Taxonomic characterization by 16S rRNA, multi-locus sequence analysis, pairwise whole-genome comparisons, phylogenomics and phenotypic data identified strain S1Bt23 as a novel subspecies within Pseudomonas chlororaphis. In dual culture studies, strain S1Bt23 exhibited potent mycelial growth inhibition (60.2–66.7%) against Pythium ultimum. Furthermore, strain S1Bt23 was able to significantly bioprotect potato tuber slices from the development of necrosis inducible by P. ultimum. Annotations of the whole genome sequence of S1Bt23 revealed the presence of an arsenal of secondary metabolites including the complete phenazine biosynthetic cluster (phzABCDEFG). Thin-layer (TLC) and high-performance liquid (HPLC) chromatographic analyses of S1Bt23 extracts confirmed the production of phenazines, potent antifungal compounds. CRISPR/Cas9-mediated deletion of phzB (S1Bt23ΔphzB) or phzF (S1Bt23ΔphzF) gene abrogated phenazine production based on TLC and HPLC analyses. Also, S1Bt23ΔphzB and S1Bt23ΔphzF mutants lost antagonistic activity and bioprotection ability of potato tubers against P. ultimum. This demonstrated that phenazines are involved in the antagonistic activity of S1Bt23 against P. ultimum. Finally, based on genotypic and phenotypic data, we taxonomically conclude that S1Bt23 represents a novel subspecies for which the name Pseudomonas chlororaphis subsp. phenazini is proposed.
Genome-wide discovery of selection signatures in four Anatolian sheep breeds revealed by ddRADseq
Authors: Argun Karsli Bahar , Demir Eymen , Bilginer Umit , Dogru Huriye , Karsli Taki , Kaya Sarp 
Published: September 2024

AbstractHigh-density genomic data analyzed by accurate statistical methods are of potential to enlighten past breeding practices such as selection by unraveling fixed regions. In this study, four native Turkish sheep breeds (80 samples) were genotyped via 296.097 single nucleotide polymorphisms (SNPs) detected by double-digest restriction site-associated DNA (ddRADseq) library preparation combined with the Illumina HiSeq X Ten instrument in order to identify genes under selection pressure. A total of 32, 136, 133, and 119 protein-coding genes were detected under selection pressure by runs of homozygosity (ROH), integrated haplotype score (iHS), the ratio of extended haplotype homozygosity (Rsb), and fixation index (FST) approaches, respectively. Of these, a total of 129 genes were identified by at least two statistical models which overlapped with a total of 52 quantitative trait loci (QTL)-associated SNPs, known to be related to fiber diameter, milk content, body weight, carcass traits, some blood parameters, and entropion. A total of six genes under selection pressure were validated by three statistical approaches five of which are of potential to be integrated into animal breeding since they were associated with wool fiber diameter (ZNF208B), behaviors related to neurocognitive development (CBX1 and NFE2L1), adaptation to high-altitude (SDK1), and anxiety causing internal stress (GSG1L). The sixth gene (COPZ1) turned out to play an important role in coping with different types of cancer in mammals. In particular, ROH analysis uncovered significant findings that the Güney Karaman (GKR) had experienced different selection practices than the Akkaraman (AKR) breed. Moreover, some genes specifically under selection in the GKR breed turned out to be associated with olfaction (OR6K6, OR6N1, OR6N2, and OR4C16), survival during the gestation period (PRR15L), and heat stress (CDK5RAP9). The results of this study imply that GKR may become genetically different from the AKR breed at the genome level due to most probably experiencing different adaptation processes occurring in raised climatic conditions. These differences should be conserved to face future challenges, while other native Turkish sheep breeds could be monitored via genome-wide high-density SNP data to obtain deeper knowledge about the effects of natural selection.
Is tuna ecolabeling causing fishers more harm than good?
Authors: Nakamura Katrina 
Published: September 2024

AbstractNearly 70,000 fishing crew are currently at sea catching the ecolabeled tuna in your sandwich or sushi. Tuna fishing on the High Seas is remote, making it difficult to detect forced labour and important to look into the welfare of fishers on vessels fishing for ecolabeled tuna. The Marine Stewardship Council (MSC) ecolabel says it is keeping forced labour out of the certified supply chain and that buyers choosing certified tuna significantly reduce their exposure. To determine how this is achieved, an analysis was performed of the primary data published by the MSC at https://fisheries.msc.org for the 3327 tuna vessels listed in its program. The data show that a majority of tuna vessel owners (1970 fishing employers) are participating anonymously. Their involvement in forced labour is unknown, and vessel conditions are untraceable for 74% of the tuna catches reported by certifiers. A majority of MSC’s tuna clients (about 4% fishing entities) refuted forced labour on behalf of 53% of tuna fishers in a template that MSC provides and protects with a disclaimer. Yet, on some of the vessels, tuna fishers have recently reported forced labour. Content analysis showed the information provided by MSC’s tuna clients overall deflects (rather than accepts) accountability for human rights and adverse effects, such as debt bondage. These findings matter to fishers’ welfare because the MSC has reported that its program encompasses 59% of the world’s tuna, making its assurances about lower risks in certified tuna influential in the sector, with potential to undermine criminal and civil enforcement.
The Use of Simulation in Communication Sciences and Disorders: A Follow-Up Survey
Authors: Dudding Carol C. , Zraick Richard I. , Dudding Samantha M. 
Published: September 2024

Purpose:
This study investigates changes in the prevalence and practice of simulation in communication sciences and disorders (CSD) education. It is a follow-up to a 2015 survey on the same topic. Given the changes in program certification standards and the impact of the COVID-19 pandemic on clinical education programs across the United States, re-examination of simulation in CSD is warranted.

Method:
An online questionnaire was developed to survey university programs accredited by the Council on Academic Accreditation of the American Speech-Language-Hearing Association. University program directors and clinical directors received recruitment e-mails using QuestionPro, an online survey platform. The recruitment e-mail contained the purpose of the study and a link to the online questionnaire along with instructions to forward the survey to the appropriate designee. The consent form was then embedded in the questionnaire.

Results:
The results of this survey indicated changes in patterns and the use of simulation in clinical education for CSD. Results indicated an overall increase in the use of simulations, specifically in computer-based simulations. Distance simulation as a hybrid technology proved a major addition to clinical education programs during the COVID-19 pandemic. External and internal factors affecting the use of simulations in CSD were identified.

Conclusions:
The use of simulation to supplement clinical education in CSD has evolved in recent years. These changes are likely due in part to changes in certification standards in the profession, an increase in awareness and training, and reliance on distance simulation during the COVID-19 pandemic.
Best Practices for Supporting Social–Emotional Development in Children With Developmental Language Disorder and Attention-Deficit/Hyperactivity Disorder
Authors: Timler Geralyn R. , Zane Emily , Decker Alyssa L. , Ritter Rachel , Stewart Anne 
Published: September 2024

Purpose:
Children with developmental language disorder (DLD) and/or attention-deficit/hyperactivity disorder (ADHD) are at an elevated risk of social–emotional difficulties, including low self-esteem and anxiety, related to school achievement and peer interactions. This clinical focus article provides best practice guidelines, shaped by a neurodiversity-affirming lens, to support children's social–emotional development.

Method:
The guidelines were developed through interprofessional discussions among the authors, which included three communication specialists and two mental health specialists, and supported by review of the scholarly literature on neurodiversity, DLD, and ADHD, with a focus on first-person perspectives of children and adults with these conditions and their parents and teachers.

Results:
The practice guidelines include recommendations for the interprofessional assessment of DLD and/or ADHD and suggestions for neurodiversity-affirming supports to promote acceptance of students with DLD and/or ADHD by teachers and peers. Intervention recommendations for social communication skills, self-regulation supports, and self-advocacy are described. A hypothetical case study is provided to illustrate implementation of the recommended practices.

Conclusions:
First-person and family perspectives studies provide compelling evidence that having DLD and/or ADHD, coupled with the negative reactions of others to children's differences related to these conditions, have adverse effects on children's social–emotional development. Speech-language pathologists and their interprofessional team members have an important role to play in preventing these effects by providing social–emotional supports for children with DLD and/or ADHD.
Rendering Frankenstein's monsters? The emergence and impacts of human digital twins
Authors: Kabalska Agnieszka , Wagner Ralf 
Published: September 2024

AbstractHuman digital twins (HDTs) are set to revolutionise human–system integration and improve human capacities, productivity, and well‐being by including human characteristics in system design. Reflecting real‐life behaviours and emotional reactions, HDTs render virtual data‐driven models of people. Their presence in many fields—including office work, education, and healthcare—showcases their ability to advance diagnoses, workforce training, and individualised learning. However, the general HDTs acceptance hypothesis calls for a critical analysis of their ethical ramifications and social influence. Emphasising the need of social adaptations to maintain stability, structural functionalism provides a suited framework to examine the roles of HDTs inside social systems. Despite their obvious advantages, HDTs raise ethical questions. While addressing concerns about user acceptance and ethical norms, engineers, designers and the legal regulators, but also the users—by means of ‘owners’—must consider the substantial consequences of HDTs and their customisation. HDTs' duality, like a double‐edged sword, calls for deliberate usage and considerable thought to negotiate the changing terrain of human–machine interaction.
Key technologies and applications of collaboration between digital power grid and Internet of Things
Authors: Wang Peng , Zhang Di , Gan Lu , Zhang Yongjun 
Published: September 2024

AbstractThe integration of electricity technology and information technology, such as the Internet of Things (IoT), enables the construction of new power systems, along with the innovation of application scenarios and business scope. The key technologies of power IoT and the data flow process are summarised first. The IoT technology and application scenario requirements of power generation, transmission, loading, and storage of new power systems are studied. Thus, the nature of the collaborative development of the digital power grid and the IoT is demonstrated from the perspective of data processing in power IoT and application requirements in power systems. The key problems and solutions faced by the power IoT under the digital transformation are described, and the cross‐integration of key technologies and promotion of application scenario innovation are prospected. Finally, the key issues of future technological development were discussed, providing reference ideas for fully leveraging the value of energy and electricity data production factors and promoting the construction of a digital electricity ecosystem.
Torque improvement investigation of a double rotor permanent magnet motor based on effective utilization of magnetic field coupling
Authors: Xiang Zixuan , Xie Yuxi , Zhu Xiaoyong , Zhou Yuting 
Published: September 2024

AbstractIn this paper, a torque improvement method is presented for a double rotor (DR) permanent magnet motor, where the key is to conduct the study based on effective utilization of magnetic field coupling. To facilitate systematic analysis, the magnetomotive force (MMF) and airgap flux density considering magnetic coupling effect are deduced and analysed. It contributes to building the relationships between the output torque caused by magnetic coupling and magnetic field harmonics. By introducing the coupling sensitivity coefficient, the coupling harmonics in the inner and outer airgap magnetic fields are obtained. Then, two coupling harmonic groups are further determined in terms of phase difference and torque contribution, where one of them is required to be enhanced and the other is needed to be reduced. On the basis of this, a comprehensive coupling factor is defined purposely to realise the design and evaluation of the characteristics of coupling harmonic groups. Some motor performances are analysed in details, including the torque, torque ripple, overload capability, and so on. Finally, a prototype motor is manufactured to verify the feasibility of the presented studies of the DR motor.
Skin cancer identification utilizing deep learning: A survey
Authors: Meedeniya Dulani , De Silva Senuri , Gamage Lahiru , Isuranga Uditha 
Published: September 2024

AbstractMelanoma, a highly prevalent and lethal form of skin cancer, has a significant impact globally. The chances of recovery for melanoma patients substantially improve with early detection. Currently, deep learning (DL) methods are gaining popularity in assisting with the early identification of melanoma. Despite their high performance, relying solely on an image classifier undermines the credibility of the application and makes it difficult to understand the rationale behind the model's predictions highlighting the need for Explainable AI (XAI). This study provides a survey on skin cancer identification using DL techniques utilized in studies from 2017 to 2024. Compared to existing survey studies, the authors address the latest related studies covering several public skin cancer image datasets and focusing on segmentation, classification based on convolutional neural networks and vision transformers, and explainability. The analysis and the comparisons of the existing studies will be beneficial for the researchers and developers in this area, to identify the suitable techniques to be used for automated skin cancer image classification. Thereby, the survey findings can be used to implement support applications advancing the skin cancer diagnosis process.
Stellenwert der DXA und des qCT in der Osteoporosediagnostik
Authors: Zolal Amir , Große Kersten , Mißbach Tobias , Silbermann Jörg , Schütz Ludwig , Kirsch Matthias 
Published: September 2024

ZusammenfassungDie bildgebende Osteoporosediagnostik ist entscheidend für die frühzeitige Erkennung und Behandlung der Krankheit. Aktuell gilt die Dual-Röntgen-Absorptiometrie (DXA) als Goldstandard und wird in den deutschen Leitlinien empfohlen. Die DXA hat sich aus einer Reihe diagnostischer Verfahren entwickelt und zeichnet sich durch gut dokumentierte Risikostratifizierung für osteoporotische Frakturen aus. Parallel dazu gewinnt die quantitative Computertomographie (qCT) an Bedeutung, insbesondere für präoperative Diagnostik bei wirbelsäulenchirurgischen Eingriffen.Die DXA-Methode hat jedoch einige Einschränkungen, wie die fehlende Information über die Knochenmikrostruktur und potenzielle Fehlerquellen durch zweidimensionale Bildgebung. Technische Fortschritte in der qCT, wie die automatisierte Definition von trabekulären Regions of Interest (ROIs), erlauben präzisere Messungen, führen aber zu höherer Strahlenexposition.Ein Vergleich der beiden Methoden zeigt, dass die DXA aufgrund umfangreicher Studien und Metaanalysen bevorzugt wird, während die Datenlage für die qCT begrenzter ist. Die DXA wird in der DVO-Leitlinie 2023 als Standardverfahren empfohlen, wobei der Trabecular Bone Score (TBS) zusätzliche Informationen liefert. Die qCT hingegen ist weniger standardisiert und basiert auf weniger umfangreichen Studien.Bezüglich der Anwendung beider Methoden bei instrumentierten Fusionen an der Wirbelsäule zeigt sich, dass die DXA bei Patienten mit Spondylose unzuverlässige Ergebnisse liefern kann. Hier bietet die qCT möglicherweise genauere Informationen zur Knochenmineraldichte, was für die Beurteilung der Schraubenfestigkeit und das Risiko von Komplikationen bei instrumentierten Fusionen wichtig ist. Die deutsche Leitlinie "Spezifischer Kreuzschmerz" und internationale Studien bieten jedoch keine spezifischen Empfehlungen zur Knochendichtemessung vor solchen Eingriffen.Abschließend ist festzustellen, dass sowohl DXA als auch qCT wichtige Rollen in der Osteoporosediagnostik spielen, aber ihre jeweiligen Vor- und Nachteile abgewogen werden müssen. Die DXA bleibt der Goldstandard, während die qCT ergänzende Informationen liefert, insbesondere in Fällen, in denen die DXA durch degenerative Veränderungen beeinträchtigt sein könnte oder im Rahmen der präoperativen Beurteilung einzelner Wirbelkörper.
Subjektive Bedeutung der psychotherapeutischen Begleitung im Rahmen der Transition von trans* Personen – eine qualitative Studie
Authors: Albrecht Chris William André , Thiel Carolin , Luck-Sikorski Claudia , Frese Thomas 
Published: September 2024

Zusammenfassung
Einleitung Auf Basis aktueller Standards der Behandlung wird international davon ausgegangen, dass eine vom biologischen Geschlecht abweichende Geschlechtsidentität keine psychische Erkrankung darstellt. Jedoch fordert der Medizinische Dienst des Spitzenverbandes Bund der Krankenkassen (MDS) die Absolvierung einer Psychotherapie, bevor sie trans* Personen entsprechende Leistungen im Rahmen des Prozesses geschlechtsangleichender Maßnahmen gewähren. Betroffene müssen so nach wie vor in Kauf nehmen, dass ihre geschlechtliche Selbstdefinition mit einer Diagnose versehen wird, auch wenn bei ihnen ansonsten kein psychischer Leidensdruck besteht. Hieraus entstehen seither Konflikte. Einerseits wird durch Vergabe der Diagnose der Zugang zu medizinischen Maßnahmen ermöglicht, andererseits werden Geschlechtsidentitäten (psycho-)pathologisiert.
Forschungsziele Trans* Personen berichten dementsprechend aus unterschiedlichen Perspektiven von der psychotherapeutischen Begleittherapie im Rahmen ihrer Transition. Die Studie exploriert jene Erfahrungen und Einstellungen behandlungssuchender trans* Personen.
Methoden Hierzu wurde eine qualitative Untersuchung durchgeführt. Die Datenerhebung basierte auf 20 leitfadengestützten, teilstrukturierten Interviews, welche inhaltsanalytisch ausgewertet wurden.
Ergebnisse Die Ergebnisse gewähren einen differenzierten Einblick aus der Perspektive Betroffener. Die Auswertungen zeigen mehrheitlich positive Einstellungen hinsichtlich der Begleittherapie, welche den Zugang zu körpermodifizierenden Maßnahmen ermöglicht und sich primär durch die Gestaltung der therapeutischen Beziehung auszeichnet. Eine bedarfsgerechte psychotherapeutische Begleitung kann den Selbstwert, die Selbstakzeptanz und das Selbstbewusstsein betroffener trans* Personen positiv beeinflussen. Zugleich problematisieren die Daten jedoch den Therapiezwang und zeigen gravierende Schwachstellen des Versorgungssystems auf.
Schlussfolgerung Eine bedarfsgerechte begleitende Psychotherapie ist für trans* Personen in Deutschland von Bedeutung und zeichnet sich durch eine vertrauensvolle und trans*-sensible Gestaltung der Beziehung zwischen Patient*in und Therapeut*in aus.
Besonderheiten der medikamentösen Therapie rheumatischer Erkrankungen
im höheren Lebensalter
Authors: Leipe Jan , Schwaan Johanna 
Published: September 2024

ZusammenfassungMit zunehmendem Alter verändern sich Pharmakokinetik und -dynamik von
Arzneimitteln, insbesondere bei eingeschränkter Nierenfunktion. Beispielsweise
sollte Methotrexat bei eingeschränkter Nierenfunktion vermieden werden, während
Leflunomid unabhängig vom Nierenstatus dosiert werden kann. Biologische DMARDs
(bDMARDs) sind oft vorteilhaft, werden aber bei älteren Patienten seltener
verordnet. Polypharmazie erhöht das Risiko von Arzneimittelinteraktionen und
unerwünschten Wirkungen. Eine regelmäßige Überwachung und Anpassung der Therapie
ist unerlässlich. Methotrexat sollte nicht mit hochdosiertem ASS oder
Cotrimoxazol und bei Patienten über 80 Jahren nicht mit Metamizol kombiniert
werden, um schwerwiegende Komplikationen zu vermeiden. Kognitive
Beeinträchtigungen sind bei älteren Patienten mit rheumatischen Erkrankungen
häufig und beeinflussen die Therapietreue und -wirksamkeit. Während
Glukokortikoide das Risiko für kognitive Beeinträchtigungen erhöhen, zeigen
bDMARDs möglicherweise protektive Effekte. Weitere Studien sind notwendig, um
diese Zusammenhänge besser zu verstehen und die Therapien entsprechend
anzupassen.