bluuebunny/crossref_metadata_2025_split huggingface dataset:
Homozygous R136S mutation in PRNP gene causes inherited early onset prion disease
Authors: Ximelis Teresa , Marín-Moreno Alba , Espinosa Juan Carlos , Eraña Hasier , Charco Jorge M. , Hernández Isabel , Riveira Carmen , Alcolea Daniel , González-Roca Eva , Aldecoa Iban , Molina-Porcel Laura , Parchi Piero , Rossi Marcello , Castilla Joaquín , Ruiz-García Raquel , Gelpi Ellen , Torres Juan María , Sánchez-Valle Raquel 
Published: January 2022

Abstract
Background
More than 40 pathogenic heterozygous PRNP mutations causing inherited prion diseases have been identified to date. Recessive inherited prion disease has not been described to date.

Methods
We describe the clinical and neuropathological data of inherited early-onset prion disease caused by the rare PRNP homozygous mutation R136S. In vitro PrPSc propagation studies were performed using recombinant-adapted protein misfolding cyclic amplification technique. Brain material from two R136S homozygous patients was intracranially inoculated in TgMet129 and TgVal129 transgenic mice to assess the transmissibility of this rare inherited form of prion disease.

Results
The index case presented symptoms of early-onset dementia beginning at the age of 49 and died at the age of 53. Neuropathological evaluation of the proband revealed abundant multicentric PrP plaques and Western blotting revealed a ~ 8 kDa protease-resistant, unglycosylated PrPSc fragment, consistent with a Gerstmann-Sträussler-Scheinker phenotype. Her youngest sibling suffered from progressive cognitive decline, motor impairment, and myoclonus with onset in her late 30s and died at the age of 48. Genetic analysis revealed the presence of the R136S mutation in homozygosis in the two affected subjects linked to homozygous methionine at codon 129. One sibling carrying the heterozygous R136S mutation, linked to homozygous methionine at codon 129, is still asymptomatic at the age of 74. The inoculation of human brain homogenates from our index case and an independent case from a Portuguese family with the same mutation in transgenic mice expressing human PrP and in vitro propagation of PrPSc studies failed to show disease transmissibility.

Conclusion
In conclusion, biallelic R136S substitution is a rare variant that produces inherited early-onset human prion disease with a Gerstmann-Sträussler-Scheinker neuropathological and molecular signature. Even if the R136S variant is predicted to be “probably damaging”, heterozygous carriers are protected, at least from an early onset providing evidence for a potentially recessive pattern of inheritance in human prion diseases.
Psychotherapeutic interventions in individuals at risk for Alzheimer’s dementia: a systematic review
Authors: Rostamzadeh Ayda , Kahlert Anna , Kalthegener Franziska , Jessen Frank 
Published: January 2022

Abstract
Background
Expanding technologies of early detection of Alzheimer’s disease allow to identify individuals at risk of dementia in early and asymptomatic disease stages. Neuropsychiatric symptoms, such as anxiety and depression, are common in the course of AD and may be clinically observed many years before the onset of significant cognitive symptoms. To date, therapeutic interventions for AD focus on pharmacological and life style modification-based strategies. However, despite good evidence for psychotherapy in late-life depression, evidence for such therapeutic approaches to improve cognitive and emotional well-being and thereby reduce psychological risk factors in the course of AD are sparse.

Methods
A systematic review was conducted in PUBMED, PsycINFO, Web of Science, and Clinical Trials to summarize the state of evidence on psychotherapeutic and psychoeducational interventions for individuals at risk for Alzheimer’s dementia. Eligible articles needed to apply a manualized and standardized psychotherapeutic or psychoeducational content administered by trained professionals for individuals with subjective cognitive decline or mild cognitive impairment and measure mental health, quality of life or well-being.

Results
The literature search yielded 32 studies that were included in this narrative summary. The data illustrates heterogeneous therapeutic approaches with mostly small sample sizes and short follow-up monitoring. Strength of evidence from randomized-controlled studies for interventions that may improve mood and well-being is scarce. Qualitative data suggests positive impact on cognitive restructuring, and disease acceptance, including positive effects on quality of life. Specific therapeutic determinants of efficacy have not been identified to date.

Conclusions
This review underlines the need of specific psychotherapeutic and psychoeducational approaches for individuals at risk of Alzheimer’s dementia, particularly in terms of an early intervention aiming at improving mental health and well-being. One challenge is the modification of psychotherapeutic techniques according to the different stages of cognitive decline in the course of AD, which is needed to be sensitive to the individual needs.
Use of personal protective equipment by European Radiologists during the COVID-19 pandemic, a survey of the European Union of Medical Specialists (UEMS)
Authors: Adriaensen Miraude EAPM , Dalili Danoob , Lamb Hildo , Ricci Paolo 
Published: January 2022

Abstract
Background
The current global pandemic of Coronavirus Disease 2019 (COVID-19) has profoundly impacted medical practitioners worldwide. This survey was formed by the Radiology Section of the European Union of Medical Specialists (UEMS) to establish the use of personal protective equipment (PPE) by European radiologists committed to providing face-to-face ultrasound services after the first few months of the COVID-19 global pandemic.

Results
The results showed a heterogeneous picture within Europe regarding PPE used by European radiologists providing face-to-face ultrasound services. Ranging from full protection including full limb protection and double gloves to no PPE at all. In general, European radiologists were using more PPE when providing face-to-face ultrasound services in COVID-19 positive patients than in COVID-19 asymptomatic patients. In many member countries of the Radiology Section of the UEMS (19/30), there were no national guidelines with regard to the use of PPE by healthcare professionals committed to providing face-to-face ultrasound services.

Conclusions
Our results showed that harmonization on a European level regarding the recommended use of PPE for European radiologists providing face-to-face ultrasound services is lacking. When the position statements and best practice recommendations on standards in ultrasound are revised, we recommend adding a paragraph on PPE.
IL-6 coaxes cellular dedifferentiation as a pro-regenerative intermediate that contributes to pericardial ADSC-induced cardiac repair
Authors: Zhu Hongtao , Liu Xueqing , Ding Yuan , Tan Kezhe , Ni Wen , Ouyang Weili , Tang Jianfeng , Ding Xiaojun , Zhao Jianfeng , Hao Yingcai , Teng Zenghui , Deng Xiaoming , Ding Zhaoping 
Published: January 2022

Abstract
Background
Cellular dedifferentiation is a regenerative prerequisite that warrants cell cycle reentry and appropriate mitotic division during de novo formation of cardiomyocytes. In the light of our previous finding that expression of injury-responsive element, Wilms Tumor factor 1 (WT1), in pericardial adipose stromal cells (ADSC) conferred a compelling reparative activity with concomitant IL-6 upregulation, we then aim to unravel the mechanistic network that governs the process of regenerative dedifferentiation after ADSC-based therapy.

Methods and results
WT1-expressing ADSC (eGFP:WT1) were irreversibly labeled in transgenic mice (WT1-iCre/Gt(ROSA)26Sor-eGFP) primed with myocardial infarction. EGFP:WT1 cells were enzymatically isolated from the pericardial adipose tissue and cytometrically purified (ADSCgfp+). Bulk RNA-seq revealed upregulation of cardiac-related genes and trophic factors in ADSCgfp+ subset, of which IL-6 was most abundant as compared to non-WT1 ADSC (ADSCgfp−). Injection of ADSCgfp+ subset into the infarcted hearts yielded striking structural repair and functional improvement in comparison to ADSCgfp− subset. Notably, ADSCgfp+ injection triggered significant quantity of dedifferentiated cardiomyocytes recognized as round-sharp, marginalization of sarcomeric proteins, expression of molecular signature of non-myogenic genes (Vimentin, RunX1), and proliferative markers (Ki-67, Aurora B and pH3). In the cultured neonatal cardiomyocytes, spontaneous dedifferentiation was accelerated by adding tissue extracts from the ADSC-treated hearts, which was neutralized by IL-6 antibody. Genetical lack of IL-6 in ADSC dampened cardiac dedifferentiation and reparative activity.

Conclusions
Taken collectively, our results revealed a previous unappreciated effect of IL-6 on cardiac dedifferentiation and regeneration. The finding, therefore, fulfills the promise of stem cell therapy and may represent an innovative strategy in the treatment of ischemic heart disease.
Normal ex vivo mesenchymal stem cell function combined with abnormal immune profiles sets the stage for informative cell therapy trials in idiopathic pulmonary fibrosis patients
Authors: Atanasova Elena , Milosevic Dragana , Bornschlegl Svetlana , Krucker Karen P. , Jacob Eapen K. , Carmona Porquera Eva M. , Anderson Dagny K. , Egan Ashley M. , Limper Andrew H. , Dietz Allan B. 
Published: January 2022

Abstract
Background
Idiopathic pulmonary fibrosis (IPF) is a chronic, progressive pulmonary disease characterized by aberrant tissue remodeling, formation of scar tissue within the lungs and continuous loss of lung function. The areas of fibrosis seen in lungs of IPF patients share many features with normal aging lung including cellular senescence. The contribution of the immune system to the etiology of IPF remains poorly understood. Evidence obtained from animal models and human studies suggests that innate and adaptive immune processes can orchestrate existing fibrotic responses. Currently, there is only modest effective pharmacotherapy for IPF. Mesenchymal stem cells (MSCs)-based therapies have emerged as a potential option treatment of IPF. This study characterizes the functionality of autologous MSCs for use as an IPF therapy and presents an attempt to determine whether the disease occurring in the lungs is associated with an alterated immune system.

Methods
Comprehensive characterization of autologous adipose-derived MSCs (aMSCs) from 5 IPF patient and 5 age- and gender-matched healthy controls (HC) was done using flow cytometry, PCR (ddPCR), multiplex Luminex xMAP technology, confocal microscopy self-renewal capacity and osteogenic differentiation. Additionally, multi-parameter quantitative flow cytometry of unmanipulated whole blood of 15 IPF patients and 87 (30 age- and gender-matched) HC was used to analyze 110 peripheral phenotypes to determine disease-associated changes in the immune system.

Results
There are no differences between autologous aMSCs from IPF patients and HC in their stem cell properties, self-renewal capacity, osteogenic differentiation, secretome content, cell cycle inhibitor marker levels and mitochondrial health. IPF patients had altered peripheral blood immunophenotype including reduced B cells subsets, increased T cell subsets and increased granulocytes demonstrating disease-associated alterations in the immune system.

Conclusions
Our results indicate that there are no differences in aMSC properties from IPF patients and HC, suggesting that autologous aMSCs may be an acceptable option for IPF therapy. The altered immune system of IPF patients may be a valuable biomarker for disease burden and monitoring therapeutic response,
Multistep schemes for solving backward stochastic differential equations on GPU
Authors: Kapllani Lorenc , Teng Long 
Published: January 2022

AbstractThe Backward Stochastic Differential Equation (BSDE) is an important tool for pricing and hedging. Highly accurate pricing for low computation time becomes interesting for minimizing monetary loss. Therefore, we explore the opportunity of parallelizing high-order multistep schemes in option pricing. In the multistep scheme the computations at each space grid point are independent and this fact motivates us to select massively parallel GPU computing using CUDA. In our investigations we identify performance bottlenecks and apply appropriate optimization techniques to reduce the computation time in a uniform space domain. Runtime experiments manifest optimistic speedups for the parallel implementation on a single GPU, NVIDIA GeForce 1070 Ti.
Antibacterial effect on microscale rough surface formed by fine particle bombarding
Authors: Nishitani Tomoko , Masuda Kyosuke , Mimura Soma , Hirokawa Takahiko , Ishiguro Hitoshi , Kumagai Masao , Ito Takeshi 
Published: January 2022

Abstract
Fine particle bombarding (FPB) is typically utilized to modify metal surfaces by bombarding them with fine particles at high-speed. The diameters of the particles range from several to tens of micrometers. FPB forms fine microscale concavities and convexities on a surface. As FPB-treated surfaces are widely used in the food industry, the influence of bacteria on their surface must be considered. In this study, we examined the antibacterial activity of microscale rough surfaces formed by FPB. We applied FPB to a stainless-steel surface and evaluated the antibacterial effect of FPB-treated surfaces based on JIS Z 2801 (a modified test method from ISO 22196:2007). Our results indicated that the FPB-treated surfaces (FPB-1 (avg. pitch: 0.72 µm) and FPB-2 (avg. pitch: 3.56 µm)) exhibited antibacterial activity both against Escherichia coli and Staphylococcus aureus.

Graphical Abstract
Utility and reliability of the Clinical Frailty Scale in patients scheduled for major vascular surgery: a prospective, observational, multicentre observer-blinded study
Authors: Ayyash Reema , Knight Joanne , Kothmann Elke , Eid Mohamed , Ayyash Katie , Colling Kerry , Yates David , Mill Aileen , Danjoux Gerard 
Published: January 2022

Abstract
Background
Frailty is a distinctive health state associated with a loss of physiological reserve that results in higher rates of perioperative complications and impaired return to pre-morbid functional status. It is prevalent in the vascular population; however routine assessment is not common despite national guidance to the contrary. We aimed to evaluate the reliability of the Clinical Frailty Scale in assessing frailty in the surgical vascular population.

Methods
In this prospective, observational, observer-blinded study, we compared assessment of frailty in patients scheduled for major vascular surgery attending the pre-operative assessment clinic using the Clinical Frailty Scale against the Edmonton Frailty Scale.
The study investigator completed the Edmonton Frailty Scale assessment; this was compared to the Clinical Frailty Scale assessments performed by the pre-assessment consultant and pre-assessment nurse, who were blinded to the Edmonton Frailty Scale score. The inter-rater reliability of the Clinical Frailty Scale between the pre-assessment consultant and pre-assessment nurse was determined by comparing their frailty scores for each patient.

Results
Ninety-seven patients were included in the analysis (median age 72 years, 84% male and 16% female). There was a moderate level of agreement between the Edmonton and Clinical Frailty Scale score for both consultants (87.6% agreement) and pre-assessment nurses (87.6% agreement). There was a substantial level of agreement between consultants and pre-assessment nurses for the Clinical Frailty Scale (89.7% agreement)

Conclusions
The Clinical Frailty Scale is a useful tool to assess frailty in the vascular surgical population. It is more practical than the Edmonton Frailty Scale: quick to complete, requires minimal training and can be used when physical disability is present.

Trial registration
The study was approved by the Wales Health and Care Research Ethics Service (REC reference 17/WA/0160, IRAS 201173). Trial registration: NCT03403673. Registered 19 January 2018, https://clinicaltrials.gov/ct2/show/NCT03403673
What are the effects of herbivore diversity on tundra ecosystems? A systematic review protocol
Authors: Barrio Isabel C. , Barbero-Palacios Laura , Kaarlejärvi Elina , Speed James D. M. , Heiðmarsson Starri , Hik David S. , Soininen Eeva M. 
Published: January 2022

Abstract
Background
Changes in the diversity of herbivore communities can strongly influence the functioning of northern ecosystems. Different herbivores have different impacts on ecosystems because of differences in their diets, behaviour and energy requirements. The combined effects of different herbivores can in some cases compensate each other but lead to stronger directional changes elsewhere. However, the diversity of herbivore assemblages has until recently been a largely overlooked dimension of plant–herbivore interactions. Given the ongoing environmental changes in tundra ecosystems, with increased influx of boreal species and changes in the distribution and abundance of arctic herbivores, a better understanding of the consequences of changes in the diversity of herbivore assemblages is needed. This protocol presents the methodology that will be used in a systematic review on the effects of herbivore diversity on different processes, functions and properties of tundra ecosystems.

Methods
This systematic review builds on an earlier systematic map on herbivory studies in the Arctic that identified a relatively large number of studies assessing the effects of multiple herbivores. The systematic review will include primary field studies retrieved from databases, search engines and specialist websites, that compare responses of tundra ecosystems to different levels of herbivore diversity, including both vertebrate and invertebrate herbivores. We will use species richness of herbivores or the richness of functional groups of herbivores as a measure of the diversity of the herbivore assemblages. Studies will be screened in three stages: title, abstract and full text, and inclusion will follow clearly identified eligibility criteria, based on their target population, exposure, comparator and study design. The review will cover terrestrial Arctic ecosystems including the forest-tundra ecotone. Potential outcomes will include multiple processes, functions and properties of tundra ecosystems related to primary productivity, nutrient cycling, accumulation and dynamics of nutrient pools, as well as the impacts of herbivores on other organisms. Studies will be critically appraised for validity, and where studies report similar outcomes, meta-analysis will be performed.
Compliance with hand disinfection in the surgical area of an orthopedic university clinic: results of an observational study
Authors: Baier Claas , Tinne Maren , von Lengerke Thomas , Gossé Frank , Ebadi Ella 
Published: January 2022

Abstract
Background
Hand hygiene using alcoholic hand rub solution is essential for the prevention of surgical site infections. There are several opportunities for hygienic hand disinfection (termed “hand hygiene” in the following) during immediate pre-, intra- and postoperative orthopedic patient care. However, the level of hand hygiene compliance among surgical and anesthesia staff in this context is unclear. Therefore, we conducted an observational study in operating theatres of an orthopedic university clinic in northern Germany during July and August 2020.

Methods
One trained person directly and comprehensively observed hand hygiene compliance of surgical and anesthesia staff according to the WHO “My 5 moments for hand hygiene” model (WHO-5). In addition to cross-tabulations with Chi2 tests, multiple logistic regression models were used to study associations between occupational group, medical specialty, and compliance (both overall and for each WHO-5 indication). Models were adjusted for hand hygiene opportunities being associated with female or male healthcare workers, being located within or outside the operation room, and occurring in adult or pediatric surgery.

Results
In total, 1145 hand hygiene opportunities during 16 surgeries were observed. The overall compliance was 40.8% (95% CI 37.9–43.6%), with a larger difference between surgical versus anesthesia staff (28.4% vs. 46.1%, p < 0.001) than between physicians versus nurses (38.5% vs. 42.9%, p = 0.13). Adjusting for sex, place of observation, and adult versus pediatric operation theatre, logistic regression analyses revealed a significant interaction between medical specialty and occupational group (p < 0.001). In particular, the odds for compliance were higher for anesthesiologists (47.9%) than for surgeons (19.6%) (OR = 4.8, 95% CI 3.0–7.6). In addition, compliance was higher in pediatric surgery (OR = 1.9, 95% CI 1.4–2.6). In general, WHO-5-stratified results were in line with these overall patterns.

Conclusions
Hygienic hand disinfection compliance was approximately 41%. Notably, surgeons performed worse than anesthesiologists did. These results indicate that hand hygiene compliance in orthopedic surgery needs to be improved. Tailored interventions promise to be an appropriate way to address each occupational group’s specific needs.
An integrated model for evaluation of big data challenges and analytical methods in recommender systems
Authors: Asemi Adeleh , Asemi Asefeh , Ko Andrea , Alibeigi Ali 
Published: January 2022

AbstractThe study aimed to present an integrated model for evaluation of big data (BD) challenges and analytical methods in recommender systems (RSs). The proposed model used fuzzy multi-criteria decision making (MCDM) which is a human judgment-based method for weighting of RSs’ properties. Human judgment is associated with uncertainty and gray information. We used fuzzy techniques to integrate, summarize, and calculate quality value judgment distances. Then, two fuzzy inference systems (FIS) are implemented for scoring BD challenges and data analytical methods in different RSs. In experimental testing of the proposed model, A correlation coefficient (CC) analysis is conducted to test the relationship between a BD challenge evaluation for a collaborative filtering-based RS and the results of fuzzy inference systems. The result shows the ability of the proposed model to evaluate the BD properties in RSs. Future studies may improve FIS by providing rules for evaluating BD tools.