bluuebunny/crossref_metadata_2025_split huggingface dataset:
Together4RD position statement on collaboration between European reference networks and industry
Authors: Hedley Victoria , Bolz-Johnson Matt , Hernando Ines , Kenward Rosalind , Nabbout Rima , Romero Clara , Schaefer Franz , Upadhyaya Sheela ,   Together4RD Steering Group, Arzimanoglou Alexis , Dollfus Hélène , Leroux Dorothée , Scarpa Maurizio , Schaefer Franz , Verloes Alain , Bolz-Johnson Matt , Daria Julkowska  , Rath Ana , Hedley Victoria , Ussi Anton , Mimouni Yanis , Nabbout Rima , Cuisenier Morgane , Chalandon Anne-Sophie , Digneffe Toon , Almberg Gabriella , Scarabelli Matteo , Vranken Leander 
Published: September 2023

AbstractNotwithstanding two decades of policy and legislation in Europe, aimed to foster research and development in rare conditions, only 5–6% of rare diseases have dedicated treatments. Given with the huge number of conditions classed as rare (which is increasing all the time), this equates to major unmet need for patients (over 30 million in the EU alone). Worryingly, the pace of Research and Innovation in Europe is lagging behind other regions of the world, and a seismic shift in the way in which research is planned and delivered is required, in order to remain competitive and—most importantly—bring meaningful, disease-altering treatments to those who desperately need them. The European Reference Networks (ERNs), launched in 2017, hold major potential to alleviate many of these challenges, and more, but only if adequately supported (financially, technically, and via robust policies and infrastructure) to realise that potential: and even then, only if able to forge robust collaborations harnessing the expertise, resources, knowledge and data of all stakeholders involved in rare disease, including Industry. To-date, however, ERN-Industry interactions have been largely limited, for a range of reasons (concerning barriers both tangible and perceived). This Position Statement analyses these barriers, and explains how Together4RD is seeking to move the needle here, by learning from case studies, exploring frameworks for collaboration, and launching pilots to explore how best to plan and deliver multistakeholder interactions addressing real research needs.
Can a shoe‐mounted IMU identify the effects of orthotics in ways comparable to gait laboratory measurements?
Authors: Lewin Max , Price Carina , Nester Christopher 
Published: September 2023

AbstractBackgroundFootwear and orthotic research has traditionally been conducted within laboratories. With increasing prevalence of wearable sensors for foot and ankle biomechanics measurement, transitioning experiments into the real‐world is realistic. However wearable systems must effectively detect the direction and magnitude of response to interventions to be considered for future usage.MethodsRunScribe IMU was used simultaneously with motion capture, accelerometers, and force plates during straight‐line walking. Three orthotics (A, B, C) were used to change lower limb biomechanics from a control (SHOE) including: Ground reaction force (GRF) loading rate (A), pronation excursion (A and B), maximum pronation velocity (A and B), and impact shock (C) to test whether RunScribe detected effects consistent with laboratory measurements. Sensitivity was evaluated by assessing: 1. Significant differences (t‐test) and effect sizes (Cohen's d) between measurement systems for the same orthotic, 2. Statistical significance (t‐test and ANOVA) and effect size (Cohen's d & f) for orthotic effect across measurement systems 3. Direction of orthotic effect across measurement systems.ResultsGRF loading rate (SHOE: p = 0.138 d = 0.403, A: p = 0.541 d = 0.165), impact shock (SHOE: p = 0.177 d = 0.405, C: p = 0.668 d = 0.132), pronation excursion (A: p = 0.623 d = 0.10, B: p = 0.986 d = 0.00) did not significantly differ between measurement systems with low effect size. Significant differences and high effect sizes existed between systems in the control condition for pronation excursion (p = 0.005 d = 0.68), and all conditions for pronation velocity (SHOE: p < 0.001 d = 1.24, A: p = 0.001 p = 1.21, B: p = 0.050 d = 0.64).RunScribe (RS) and Laboratory (LM) recorded the same significant effect of orthotic but inconsistent effect sizes for GRF loading rate (LM:p = 0.020 d = 0.54, RS: p = 0.042 d = 0.27), pronation excursion (LM: p < 0.001 f = 0.31, RS: p = 0.042 f = 0.15), and non‐significant effect of orthotic for impact shock (LM: p = 0.182 d = 0.08, RS: p = 0.457 d = 0.24). Statistical significance was different between systems for effect of orthotic on pronation velocity (LM: p = 0.010 f = 0.18, RS: p = 0.093 f = 0.25).RunScribe and Laboratory agreed on the direction of change of the biomechanics variables for 69% (GRF loading rate), 40%—70% (pronation excursion), 47%—65% (pronation velocity), and 58% (impact shock) of participants.ConclusionThe RunScribe shows sensitivity to orthotic effect consistent with the laboratory at the group level for GRF loading rate, pronation excursion, and impact shock during walking. There were however large discrepancies between measurements in individuals. Application of the RunScribe for group analysis may be appropriate, however implementation of RunScribe for individual assessment and those including pronation may lead to erroneous interpretation.
Early occurrence of acute myelomonocytic leukemia (M4/M5) after liver transplantation: a case report
Authors: Zamani Farhad , Karimi Hanie , Mansoorian Mohsenreza , Basi Ali , Hosseini S. Ahmad , Zahed Zahra , Seyedghasemipour Nasim , Sahraie Roghayeh 
Published: September 2023

Abstract
Introduction
Acute myeloid leukemia is a rare event in post-liver-transplantation recipients. In the present report, we described a case of extramedullary acute myeloid leukemia, M4/M5 subtype, following orthotopic liver transplant.

Case presentation
The patient was a 50-year-old Iranian woman who underwent orthotopic liver transplant due to hepatitis B-related cirrhosis (Child C, MELD (model for end-stage liver disease score) = 22). Orthotopic liver transplant was performed using the piggy back technique in January 2022. Induction immunosuppressive therapy was 1 gm methylprednisolone for 3 days followed by a triple maintenance immunosuppressive regimen including mycophenolate mofetil, prednisolone, and tacrolimus. About 5 months after orthotopic liver transplant in June 2022, the patient presented with leukocytosis, with white blood cell count of 99.4 × 103/µl, and physical examination revealed only cervical lymphadenopathy. Biopsy of cervical lymph nodes showed a myeloid tumor. She was immediately hospitalized. Eight hours after hospitalization, the patient gradually developed lethargy and decreased O2 saturation to approximately 89%. Flow cytometry demonstrated the markers of a myelomonocytic acute myeloid leukemia (M4/M5). Cytoreduction was immediately started by intensive leukopheresis followed by induction therapy. Because of a septic complication during the induction therapy, further chemotherapy was discontinued and broad-spectrum antibiotics and antifungal treatments started. Unfortunately, our patient died of severe septic shock 42 days after hospitalization.

Conclusion
Acute myeloid leukemia is a rare phenomenon after liver transplantation, and it can follow a rapidly fatal clinical course.
Sex differences in muscle protein expression and DNA methylation in response to exercise training
Authors: Landen Shanie , Jacques Macsue , Hiam Danielle , Alvarez-Romero Javier , Schittenhelm Ralf B. , Shah Anup D. , Huang Cheng , Steele Joel R. , Harvey Nicholas R. , Haupt Larisa M. , Griffiths Lyn R. , Ashton Kevin J. , Lamon Séverine , Voisin Sarah , Eynon Nir 
Published: September 2023

AbstractBackgroundExercise training elicits changes in muscle physiology, epigenomics, transcriptomics, and proteomics, with males and females exhibiting differing physiological responses to exercise training. However, the molecular mechanisms contributing to the differing adaptations between the sexes are poorly understood.MethodsWe performed a meta-analysis for sex differences in skeletal muscle DNA methylation following an endurance training intervention (Gene SMART cohort and E-MTAB-11282 cohort). We investigated for sex differences in the skeletal muscle proteome following an endurance training intervention (Gene SMART cohort). Lastly, we investigated whether the methylome and proteome are associated with baseline cardiorespiratory fitness (maximal oxygen consumption;VO2max) in a sex-specific manner.ResultsHere, we investigated for the first time, DNA methylome and proteome sex differences in response to exercise training in human skeletal muscle (n = 78; 50 males, 28 females). We identified 92 DNA methylation sites (CpGs) associated with exercise training; however, no CpGs changed in a sex-dependent manner. In contrast, we identified 189 proteins that are differentially expressed between the sexes following training, with 82 proteins differentially expressed between the sexes at baseline. Proteins showing the most robust sex-specific response to exercise include SIRT3, MRPL41, and MBP. Irrespective of sex, cardiorespiratory fitness was associated with robust methylome changes (19,257 CpGs) and no proteomic changes. We did not observe sex differences in the association between cardiorespiratory fitness and the DNA methylome. Integrative multi-omic analysis identified sex-specific mitochondrial metabolism pathways associated with exercise responses. Lastly, exercise training and cardiorespiratory fitness shifted the DNA methylomes to be more similar between the sexes.ConclusionsWe identified sex differences in protein expression changes, but not DNA methylation changes, following an endurance exercise training intervention; whereas we identified no sex differences in the DNA methylome or proteome response to lifelong training. Given the delicate interaction between sex and training as well as the limitations of the current study, more studies are required to elucidate whether there is a sex-specific training effect on the DNA methylome. We found that genes involved in mitochondrial metabolism pathways are differentially modulated between the sexes following endurance exercise training. These results shed light on sex differences in molecular adaptations to exercise training in skeletal muscle.
RUN(X) out of blood: emerging RUNX1 functions beyond hematopoiesis and links to Down syndrome
Authors: Rozen Esteban J. , Ozeroff Christopher D. , Allen Mary Ann 
Published: September 2023

Abstract
Background
RUNX1 is a transcription factor and a master regulator for the specification of the hematopoietic lineage during embryogenesis and postnatal megakaryopoiesis. Mutations and rearrangements on RUNX1 are key drivers of hematological malignancies. In humans, this gene is localized to the ‘Down syndrome critical region’ of chromosome 21, triplication of which is necessary and sufficient for most phenotypes that characterize Trisomy 21.

Main body
Individuals with Down syndrome show a higher predisposition to leukemias. Hence, RUNX1 overexpression was initially proposed as a critical player on Down syndrome-associated leukemogenesis. Less is known about the functions of RUNX1 in other tissues and organs, although growing reports show important implications in development or homeostasis of neural tissues, muscle, heart, bone, ovary, or the endothelium, among others. Even less is understood about the consequences on these tissues of RUNX1 gene dosage alterations in the context of Down syndrome. In this review, we summarize the current knowledge on RUNX1 activities outside blood/leukemia, while suggesting for the first time their potential relation to specific Trisomy 21 co-occurring conditions.

Conclusion
Our concise review on the emerging RUNX1 roles in different tissues outside the hematopoietic context provides a number of well-funded hypotheses that will open new research avenues toward a better understanding of RUNX1-mediated transcription in health and disease, contributing to novel potential diagnostic and therapeutic strategies for Down syndrome-associated conditions.
Core decompression combined with local DFO administration loaded on polylactic glycolic acid scaffolds for the treatment of osteonecrosis of the femoral head: a pilot study
Authors: Gharanizadeh Kaveh , Sharifi Ali Mohammad , Tayyebi Hamed , Heidari Razieh , Amiri Shayan , Noorigaravand Sajad 
Published: September 2023

Abstract
Background
Deferoxamine (DFO) angiogenesis induction potential has been demonstrated in earlier studies, but not in the osteonecrosis of the femoral head (ONFH). In this study, we evaluated the outcome of ONFH treated with combined core decompression and local DFO administration loaded on Polylactic Glycolic Acid (PLGA).

Patients and methods
In a pilot experimental study, six patients (10 hips) with early-stage non-traumatic ONFH were treated by core decompression, and concurrent injection of local DFO loaded on PLGA scaffold into the subchondral femoral head. Outcome measures were evaluated before the surgery and 12 and 24 months after the surgery and included visual analog scale (VAS) for pain, modified Merle d’Aubigné-Postel (MAP) score for hip function by MRI, and rate of osteonecrosis assessed by the modified.

Results
The mean MPA score was 14.7 ± 1.16 before the surgery and 16.7 ± 1.41 one year after the surgery (P = 0.004). The mean VAS for pain was 4.7 ± 1.25 before the surgery and 1.8 ± 1.03 one year after the surgery (P = 0.005). The mean Kerboul angle was 219 ± 58.64 before the operation and 164.6 ± 41.82 one year after the operation (P < 0.001). Osteonecrosis progression or collapse was not seen in any of the patients at the final follow-up. No postoperative side effect attributed to the DFO was noticed, as well.

Conclusion
In short-term follow-up, combined core decompression and local DFO administration not only prevent the progression of ONFH but also reduces the rate of osteonecrosis significantly. However, future controlled studies are required to confirm the present results.

Trial registration
IRCT20161121031003N3, 16/04/2019.
S100A6: molecular function and biomarker role
Authors: Wang Yidian , Kang Xuewen , Kang Xin , Yang Fengguang 
Published: September 2023

AbstractS100A6 (also called calcyclin) is a Ca2+-binding protein that belongs to the S100 protein family. S100A6 has many functions related to the cytoskeleton, cell stress, proliferation, and differentiation. S100A6 also has many interacting proteins that are distributed in the cytoplasm, nucleus, cell membrane, and outside the cell. Almost all these proteins interact with S100A6 in a Ca2+-dependent manner, and some also have specific motifs responsible for binding to S100A6. The expression of S100A6 is regulated by several transcription factors (such as c-Myc, P53, NF-κB, USF, Nrf2, etc.). The expression level depends on the specific cell type and the transcription factors activated in specific physical and chemical environments, and is also related to histone acetylation, DNA methylation, and other epigenetic modifications. The differential expression of S100A6 in various diseases, and at different stages of those diseases, makes it a good biomarker for differential diagnosis and prognosis evaluation, as well as a potential therapeutic target. In this review, we mainly focus on the S100A6 ligand and its transcriptional regulation, molecular function (cytoskeleton, cell stress, cell differentiation), and role as a biomarker in human disease and stem cells.
Designing and validating an assessment agency questionnaire for EFL teachers: an ecological perspective
Authors: Ghiasvand Farhad , Jahanbakhsh Akbar A. , Sharifpour Pardis 
Published: September 2023

AbstractTeacher agency is a pivotal element of professionalism and second/foreign language (L2) education. However, its role in L2 assessment has remained under-researched. Part of this negligence is due to the absence of a validated questionnaire to measure the construct and its underlying components. To address this gap, drawing on the ecological perspective, the present study developed a scale on teacher ecological assessment agency (TEAA) by gleaning data from 539 Iranian EFL teachers. The results of exploratory and confirmatory factor analysis (EFA, CFA) culminated in 5 components and 32 items in the scale. The components were labelled “Iterational”, “Projective”, “Teachers’ Practical-Evaluative View”, “Schools’ Practical-Evaluative Effect”, and “Professional/Democratic Community’s Practical-Evaluative Effect”. Furthermore, the convergent validity and reliability of the scale were statistically approved (p > .05). The study presents some implications for EFL teachers, teacher trainers, and assessment policy-makers in that they can understand and highlight the pivotal role of teacher agency in L2 assessment practices.
Spatio-temporal evolution and distribution of cultural heritage sites along the Suzhou canal of China
Authors: Huang Yan , Yang Shengdan 
Published: September 2023

Abstract
The Grand Canal is one of the most important hydraulic engineering projects in Chinese history. The city of Suzhou has abundant and concentrated cultural heritage sites in the southern section of the Grand Canal. However, due to natural hazards, anthropogenic damage, and lack of human management, the cultural heritage sites have suffered irreversible damage. Digital preservation of these sites will make it possible to maintain their aesthetic and cultural value. This paper takes cultural heritage sites along the Suzhou Canal as its research subject and establishes a cultural heritage dataset using geographical information system (GIS). The paper uses geocoding and spatial analysis methods based on GIS, including nearest neighbor analysis, kernel density analysis, center of gravity analysis, and standard deviation ellipse. The paper explores the distribution of 104 cultural heritage sites along the Suzhou Canal across six historical periods and discusses the influencing factors for evolution of the distribution. The results show that: (1) major constructions on the Grand Canal water system were started in the Pre-Sui period and completed in the Sui and Tang Dynasties; (2) the degree of clustering of the distribution has increased since the Sui and Tang Dynasties until Modern Times; (3) the high-density area has been centered around the ancient city since the Pre-Sui period, and has shown a migration trend towards the Shantang Canal since the Ming Dynasty; (4) the center of gravity first moved from northwest to southeast along the Canal and then moved northeast towards the ancient city; (5) the aggregation of the sites peaked in the Qing dynasty (1636 CE-1911 CE), and the elliptical direction of distribution has become stable since then; and (6) the types of the cultural heritage in the evolution process are affected by the joint effects of natural and human factors, namely, elevation, canals, population, water transportation, and intangible cultural heritage, among which the canal characteristics play the decisive role. This study reveals the internal evolution mechanisms of the cultural heritage in the Suzhou Canal area and presents a scientific basis for the protection and utilization of the cultural heritage in other parts of the world.
Anticandidal effects and chemical compositions of volatile oils extracted from Origanum syriacum, Clinopodium serpyllifolium subsp. fruticosum and Thymbra capitata from Palestine
Authors: Qadi Mohammad , Jaradat Nidal , Al-Maharik Nawaf , Hawash Mohammed , Abdalrazeq Manar , Fuqha Ayat , Jabareen Deema , Atamni Nayruz , Zarour Abdulraziq 
Published: September 2023

Abstract
Background
Over the past decade, researchers have been exploring the potential therapeutic benefits of volatile oils (VOs) in addressing various disorders, particularly those associated with an increase in fungal infections. This study aimed to analyze the chemical compositions of three different thyme species growing in Palestine using gas chromatography–mass spectroscopy (GC–MS) and explore their antifungal characteristics. The thyme species investigated in this research encompass Origanum syriacum L., Clinopodium serpyllifolium subsp. fruticosum (L.) Bräuchler, and Thymbra capitata (L.) Cav.

Methods
The VOs of the investigated plants were extracted by hydrodistillation technique equipped with Cleavenger apparatus and characterized by utilizing GC–MS equipment. Moreover, the extracted VOs were evaluated for their antifungal activity using the broth microdilution assay against several clinically isolated Candida species and one ATCC strain.

Results
The GC–MS characterization results of O. syriacum VO revealed the presence of 22 components and the abundant molecules were thymol (37.36%), carvacrol (27.71%), γ-terpinene (17.47%), and p-cymene (7.80%), while 19 compounds were characterized in the C. serpyllifolium VO and the major components were p-cymene (37.58%), carvacrol (22.93%), and γ-terpinene (21.91%). In addition, 23 compounds were identified in T. capitata VO and the main components were carvone (59.45%), pulegone (21.59%), menthone (4.24%), and isomenthone (3.71%). According to the antifungal assay results, VO extracted from O. syriacum has the highest activity among all the screened VOs.

Conclusion
All the VOs screened in this study exhibit promising antifungal activities for various potential medical applications. Consequently, we strongly advocate for further biological investigations of these oils in the near future.

Graphical Abstract
One Velocity Loss Threshold Does Not Fit All: Consideration of Sex, Training Status, History, and Personality Traits When Monitoring and Controlling Fatigue During Resistance Training
Authors: Jukic Ivan , Prnjak Katarina , McGuigan Michael R. , Helms Eric R. 
Published: September 2023

Abstract
Purpose
This study aimed to quantify the potential variability in the volume of work completed after reaching different velocity loss (VL) thresholds and determine the effects of sex, training status and history, as well as psychological traits on the reliability and magnitude of the amount of work completed after reaching different VL thresholds using different loads in the back-squat exercise.

Methods
Forty-six resistance-trained people (15 females and 31 males; 18 to 40 years of age) with a wide range of strength levels, training experience, and different training practices were recruited and performed a one-repetition maximum (1RM) test, and two repetitions to failure (RTF) tests 72 h apart. RTF tests were performed with 70, 80, and 90% of 1RM with 10 min of rest between sets. The Bland–Altman analysis for multiple observations per participant and equivalence tests were used to quantify the variability in the volume of work completed after reaching different VL thresholds, whereas linear and generalised mixed-effects models were used to examine the effects of different moderators on the stability and magnitude of the amount of work completed after reaching different VL thresholds.

Results
The findings of the present study question the utility of using VL thresholds to prescribe resistance training (RT) volume as the agreement in the amount of work completed across two consecutive testing sessions was not acceptable. Regardless of the load used, females completed more repetitions than males across VL thresholds, while males performed repetitions at higher velocities. In addition, individuals with higher levels of emotional stability also tended to perform more repetitions across VL thresholds. Finally, sex, choice of load, strength levels and training practices, as well as emotional stability affected the linearity of the repetition–velocity relationship and when sets terminated.

Conclusion
Using the same VL thresholds for all individuals, while assuming generalisability of the stimuli applied, would likely lead to variable acute physiological responses to RT and divergent neuromuscular adaptations over long term. Therefore, VL monitoring practices could be improved by considering sex, training status, history, and psychological traits of individuals due to their effects on the variability in responses to different VL thresholds.