bluuebunny/crossref_metadata_2025_split huggingface dataset:
Facile and versatile PDMS-glass capillary double emulsion formation device coupled with rapid purification toward microfluidic giant liposome generation
Authors: Bakouei Mostafa , Kalantarifard Ali , Sundara Raju Indraja , Avsievich Tatiana , Rannaste Lauri , Kreivi Marjut , Elbuken Caglar 
Published: December 2024

AbstractThe exceptional ability of liposomes to mimic a cellular lipid membrane makes them invaluable tools in biomembrane studies and bottom-up synthetic biology. Microfluidics provides a promising toolkit for creating giant liposomes in a controlled manner. Nevertheless, challenges associated with the microfluidic formation of double emulsions, as precursors to giant liposomes, limit the full exploration of this potential. In this study, we propose a PDMS-glass capillary hybrid device as a facile and versatile tool for the formation of double emulsions which not only eliminates the need for selective surface treatment, a well-known problem with PDMS formation chips, but also provides fabrication simplicity and reusability compared to the glass-capillary formation chips. These advantages make the presented device a versatile tool for forming double emulsions with varying sizes (spanning two orders of magnitude in diameter), shell thickness, number of compartments, and choice of solvents. We achieved robust thin shell double emulsion formation by operating the hybrid chip in double dripping mode without performing hydrophilic/phobic treatment a priori. In addition, as an alternative to the conventional, time-consuming density-based separation method, a tandem separation chip is developed to deliver double emulsions free of any oil droplet contamination in a continuous and rapid manner without any need for operator handling. The applicability of the device was demonstrated by forming giant liposomes using the solvent extraction method. This easy-to-replicate, flexible, and reliable microfluidic platform for the formation and separation of double emulsion templates paves the way for the high-throughput microfluidic generation of giant liposomes and synthetic cells, opening exciting avenues for biomimetic research.
Experience of urologists, oncologists and nurse practitioners with mainstream genetic testing in metastatic prostate cancer
Authors: Vlaming Michiel , Ausems Margreet G. E. M. , Kiemeney Lambertus A. L. M. , Schijven Gina , van Melick Harm H. E. , Noordzij M. Arjen , Somford Diederik M. , van der Poel Henk G. , Wijburg Carl J. , Wijsman Bart P. , Hoekstra Robert J. , van Moorselaar Reindert J. A. , van Bezooijen Bart P. J. , Meijer Richard P. , Busstra Martijn B. , van den Berg H. Pieter , Robbrecht Debbie G. J. , Doornweerd Benjamin H. J. , Bleiker Eveline M. A. , van Oort Inge M. 
Published: December 2024

Abstract
Background
International guidelines recommend germline genetic testing for men with metastatic prostate cancer. If offered to all patients by genetic healthcare professionals, there will be insufficient capacity to cope with the high patient numbers. In a mainstreaming pathway, non-genetic healthcare professionals (ngHCPs) discuss and order germline genetic testing instead of referring patients to genetic healthcare professionals. We aimed to evaluate the experience of ngHCPs with pre-test genetic counselling and to explore the feasibility from the ngHCPs’ perspective.

Methods
We carried out a prospective cohort study in 15 hospitals in the Netherlands. All participating ngHCPs (i.e. urologists, medical oncologists, specialist nurses and nurse practitioners) completed an online training module of 45 min. The ngHCPs completed a questionnaire both before the training and at three and nine months after it. Paired analyses were used to compare the first with the last questionnaires on attitude, confidence in the ability to discuss and order germline genetic testing, and perceived and actual knowledge of genetics and genetic testing.

Results
167 ngHCPs were invited to participate of whom 69 completed the first questionnaire and started or completed the last one. They had a positive attitude towards offering genetic testing themselves. After nine months of providing pre-test genetic counselling, significantly more ngHCPs considered mainstreaming helpful (94% after versus 81% before, p = 0.01). Both perceived and actual knowledge increased significantly. Pre-test genetic counselling took less than 10 minutes for 82% of ngHCPs and the majority (88%) were in favour of continuing the mainstream pathway. Only six participating ngHCPs considered mainstreaming possible without completing a training module beforehand.

Conclusions
After completing a short online training module, ngHCPs feel well-prepared to discuss germline genetic testing with metastatic prostate cancer patients.
Novel variants impairing Sp1 transcription factor binding in the COL7A1 promoter cause mild cases of recessive dystrophic epidermolysis bullosa
Authors: Pironon Nathalie , Gasparyan Artyom , Yubero María Joao , Duchatelet Sabine , Hovhannesyan Kristina , Leclerc-Mercier Stephanie , Kostandyan Natella , Palisson Francis , Sarkisian Tamara , Titeux Matthias , Fuentes Ignacia , Hovnanian Alain 
Published: December 2024

AbstractRecessive dystrophic epidermolysis bullosa (RDEB) is a rare and most often severe genodermatosis characterized by recurrent blistering and erosions of the skin and mucous membranes after minor trauma, leading to major local and systemic complications. RDEB is caused by loss-of-function mutations in COL7A1 encoding type VII collagen (C7), the main component of anchoring fibrils which form attachment structures stabilizing the cutaneous basement membrane zone. Most of the previously reported COL7A1 mutations are located in the coding or intronic regions. We describe 6 patients with localized or intermediate RDEB for whom one recessive pathogenic variant in the coding region and a second variant in the COL7A1 promoter were identified. These substitutions, three of which are novel, are localized in two Sp1 binding sites of the promoter region. DNA pull-down assay showed a drastic reduction of Sp1 binding consistent with a dramatic decrease in COL7A1 transcript and almost undetectable C7 protein levels. Our results reveal that mutations in the COL7A1 promoter on the background of a null allele can underlie localized or intermediate RDEB. They further emphasize the functional importance of Sp1 motifs in the proximal COL7A1 promoter which should be carefully investigated for regulatory mutations in the case of RDEB with only one pathogenic variant identified in the coding or intronic regions.
Edridge Green Lecture 2022—demystifying clinical trials and regulatory approvals in drug development
Authors: Chong Victor 
Published: December 2024

Abstract
This article provides a comprehensive overview of clinical trial design and regulatory pathways essential for drug development, specifically in the context of retinal diseases. Key concepts include trial structure, efficacy and safety endpoints, and regulatory expectations from agencies like the FDA. It delves into recent regulatory advancements, such as the inclusion of low-luminance vision as a secondary endpoint and analyses case studies from age-related macular degeneration (AMD) trials. Approvals for key retinal drugs, such as ranibizumab and aflibercept, treatments for AMD and diabetic macular oedema, are discussed highlighting criteria like the 15-letter gain/loss in visual acuity as approvable/clinical meaningful efficacy endpoints. Insights into geographic atrophy (GA) and diabetic retinopathy trials showcase the evolving landscape, where anatomical endpoints and new drugs bring fresh challenges and opportunities. It also emphasizes the importance of academic-industry collaboration, citing instances of gene therapy development and innovative endpoint measures like the Multi-Luminance Mobility Test for retinal dystrophies. The overarching aim of this lecture was to demystify the process that spans the design of clinical trials to regulatory approval of drugs so that clinicians understand these complexities. In particular, it is important to understand the reasons behind selection of trial design, inclusion and exclusion criteria, primary and secondary efficacy endpoints and safety endpoints. Since this lecture, there have been important changes in this field including new guidance from the Food and Drug Administration (FDA) as well as lessons learnt from recent drug approvals that are included in this manuscript.
Spatial analysis of femtosecond laser generated plasma using principal component analysis
Authors: Grant-Jacob James A. , Zervas Michalis N. , Mills Ben 
Published: December 2024

AbstractThe appearance of plasma generated during femtosecond laser machining depends strongly on the features present on the sample before machining occurs. However, the complexity of femtosecond light-matter interaction means that development of a theoretical understanding of plasma generation is challenging. In this work, principal component analysis is applied to experimental images of plasma generated during femtosecond laser machining of silicon to calculate the orthogonal spatial patterns of the plasma variance (plasma modes), and to identify which sample variance (sample modes) are associated with these plasma modes. The results demonstrate the potential of principal component analysis for data-driven scientific discovery in the field of femtosecond light-matter interactions.
Predicting future fallers in Parkinson’s disease using kinematic data over a period of 5 years
Authors: Sotirakis Charalampos , Brzezicki Maksymilian A. , Patel Salil , Conway Niall , FitzGerald James J. , Antoniades Chrystalina A. 
Published: December 2024

AbstractParkinson’s disease (PD) increases fall risk, leading to injuries and reduced quality of life. Accurate fall risk assessment is crucial for effective care planning. Traditional assessments are subjective and time-consuming, while recent assessment methods based on wearable sensors have been limited to 1-year follow-ups. This study investigated whether a short sensor-based assessment could predict falls over up to 5 years. Data from 104 people with PD without prior falls were collected using six wearable sensors during a 2-min walk and a 30-s postural sway task. Five machine learning classifiers analysed the data. The Random Forest classifier performed best, achieving 78% accuracy (AUC = 0.85) at 60 months. Most models showed excellent performance at 24 months (AUC > 0.90, accuracy 84–92%). Walking and postural variability measures were key predictors. Adding clinicodemographic data, particularly age, improved model performance. Wearable sensors combined with machine learning can effectively predict fall risk, enhancing PD management and prevention strategies.
AI-enabled wearable cameras for assisting dietary assessment in African populations
Authors: Lo Frank P.-W. , Qiu Jianing , Jobarteh Modou L. , Sun Yingnan , Wang Zeyu , Jiang Shuo , Baranowski Tom , Anderson Alex K. , McCrory Megan A. , Sazonov Edward , Jia Wenyan , Sun Mingui , Steiner-Asiedu Matilda , Frost Gary , Lo Benny 
Published: December 2024

AbstractWe have developed a population-level method for dietary assessment using low-cost wearable cameras. Our approach, EgoDiet, employs an egocentric vision-based pipeline to learn portion sizes, addressing the shortcomings of traditional self-reported dietary methods. To evaluate the functionality of this method, field studies were conducted in London (Study A) and Ghana (Study B) among populations of Ghanaian and Kenyan origin. In Study A, EgoDiet’s estimations were contrasted with dietitians’ assessments, revealing a performance with a Mean Absolute Percentage Error (MAPE) of 31.9% for portion size estimation, compared to 40.1% for estimates made by dietitians. We further evaluated our approach in Study B, comparing its performance to the traditional 24-Hour Dietary Recall (24HR). Our approach demonstrated a MAPE of 28.0%, showing a reduction in error when contrasted with the 24HR, which exhibited a MAPE of 32.5%. This improvement highlights the potential of using passive camera technology to serve as an alternative to the traditional dietary assessment methods.
Dynamic pre-structuration of lipid nanodomain-segregating remorin proteins
Authors: Xu Zeren , Schahl Adrien , Jolivet Marie-Dominique , Legrand Anthony , Grélard Axelle , Berbon Mélanie , Morvan Estelle , Lagardere Louis , Piquemal Jean-Philip , Loquet Antoine , Germain Véronique , Chavent Matthieu , Mongrand Sébastien , Habenstein Birgit 
Published: December 2024

AbstractRemorins are multifunctional proteins, regulating immunity, development and symbiosis in plants. When associating to the membrane, remorins sequester specific lipids into functional membrane nanodomains. The multigenic protein family contains six groups, classified upon their protein-domain composition. Membrane targeting of remorins occurs independently from the secretory pathway. Instead, they are directed into different nanodomains depending on their phylogenetic group. All family members contain a C-terminal membrane anchor and a homo-oligomerization domain, flanked by an intrinsically disordered region of variable length at the N-terminal end. We here combined molecular imaging, NMR spectroscopy, protein structure calculations and advanced molecular dynamics simulation to unveil a stable pre-structuration of coiled-coil dimers as nanodomain-targeting units, containing a tunable fuzzy coat and a bar code-like positive surface charge before membrane association. Our data suggest that remorins fold in the cytosol with the N-terminal disordered region as a structural ensemble around a dimeric anti-parallel coiled-coil core containing a symmetric interface motif reminiscent of a hydrophobic Leucine zipper. The domain geometry, the charge distribution in the coiled-coil remorins and the differences in structures and dynamics between C-terminal lipid anchors of the remorin groups provide a selective platform for phospholipid binding when encountering the membrane surface.
Community detection and anomaly prediction in dynamic networks
Authors: Safdari Hadiseh , De Bacco Caterina 
Published: December 2024

AbstractAnomaly detection is an essential task in the analysis of dynamic networks, offering early warnings of abnormal behavior. We present a principled approach to detect anomalies in dynamic networks that integrates community structure as a foundational model for regular behavior. Our model identifies anomalies as irregular edges while capturing structural changes. Our approach leverages a Markovian framework for temporal transitions and latent variables for community and anomaly detection, inferring hidden parameters to detect unusual interactions. Evaluations on synthetic and real-world datasets show strong anomaly detection across various scenarios. In a case study on professional football player transfers, we detect patterns influenced by club wealth and country, as well as unexpected transactions both within and across community boundaries. This work provides a framework for adaptable anomaly detection, highlighting the value of integrating domain knowledge with data-driven techniques for improved interpretability and robustness in complex networks.
Utilizing Augmentative and Alternative Communication and a Mixed Therapy Approach to Address the Complex Communication Needs for a Patient With Cleft Palate, Velopharyngeal Insufficiency, Spina Bifida, and 16p11.2 Deletion Syndrome
Authors: Alvarez-Montoya Elizabeth , Philp Jennifer , Cordero Kelly Nett , Grames Lynn Marty , Brown Mark N. , Jessica L. Chee-Williams  
Published: December 2024

Purpose:
This study aims to describe the use of a mixed therapy approach—including enhanced milieu teaching with phonological emphasis (EMT + PE), implementation of augmentative and alternative communication (AAC), and articulatory shaping (AS)—to support language and articulation skills for a patient with complex communication needs.

Method:
This case study presents the speech therapy treatment plan over a 3-year period for a patient with a history of unilateral cleft lip and palate, velopharyngeal insufficiency (VPI), spina bifida meningomyelocele, and 16p11.2 deletion syndrome.

Results:
At 16 months old, the patient was using one consonant phoneme and one spontaneous word. EMT + PE was utilized during the early intervention period to address language skills. At 35 months old, he was attempting three consonant phonemes and had nine spontaneous words in his expressive vocabulary. Due to limited progress with traditional language therapy alone, an AAC device was introduced to increase his participation with communication partners while continuing to work on verbal language skills using EMT + PE. At 4 years old, compensatory articulation errors became evident, and symptoms of VPI were observed. AS began to be utilized in therapy, in addition to EMT + PE and his AAC device, to expand his phonetic inventory in preparation for future VPI management.

Conclusions:
Patients with cleft palate and other comorbidities may present with complex communication needs. Individuals with a similar communication profile to the patient described in this case study may benefit from a mixed therapy approach that includes EMT, AAC, and AS to maximize language and articulation progress and enable participation with communication partners.
Low‐head pumped hydro storage: An evaluation of energy balancing and frequency support
Authors: Hoffstaedt Justus Peter , Truijen Daan , Jarquin Laguna Antonio , De Kooning Jeroen , Stockman Kurt , Fahlbeck Jonathan , Nilsson Hakan 
Published: December 2024

AbstractLarge‐scale energy storage solutions are crucial to ensure grid stability and reliability in the ongoing energy transition towards a low‐carbon, renewable energy based electricity supply. This article presents the evaluation of a novel low‐head pumped hydro storage system designed for coastal environments and shallow seas. The proposed system addresses some of the challenges of low‐head pumped hydro storage including the need for larger flow rates and reservoirs as well as the requirement of machinery with high efficiencies across a wide operating range to accommodate larger changes in gross head during storage cycles. It includes several units of contra‐rotating reversible pump‐turbines connected to axial‐flux motor generators within a ring dike, as well as dedicated machine‐ and grid‐side control. The technology allows for independent control of each runner, making it possible to adapt to the specific operating conditions of low‐head systems. In this work, a numerical approach is used to simulate the system's performance and dynamic behaviour under various operational conditions, including energy generation, storage, and grid support of a 1 GW system with 4 GWh of storage capacity. The potential system performance for energy balancing cycles is evaluated, and a sensitivity analysis is conducted to assess the influence of scaling the motor‐generators on performance and footprint of the plant. Additionally, the capability and limitations of the system to respond to grid demand fluctuations and provide frequency regulation services are assessed. The results demonstrate that the low‐head pumped hydro storage system is a viable large‐scale energy storage solution, capable of round‐trip efficiencies above 70% across a wide operating range. By increasing the maximum power of the electric machines, the maximum head range of the whole system is increased which correlates with a threefold increase in energy density per unit area. The dynamic simulations further show that the system can rapidly change its power output allowing it to provide frequency regulation services. Allocating 20% of its nominal power as a reserve, the new power setpoints can be reached within a maximum of 5 s independent of its initial state of charge.
Real‐time object detection for unmanned vehicles in Bangladesh: Dataset, implementation and evaluation
Authors: Ali Muhammad Liakat , Biswas Topu , Akter Shahin , Jawad Mohammed Farhan , Ullah Hadaate 
Published: December 2024

AbstractAutomated vehicle detection within the advanced application framework of autonomous vehicles significantly enhances road safety compared to human drivers on roads and highways. However, the intelligent identification of road vehicles in a densely populated country like Bangladesh is challenging due to irregular traffic patterns, highly diverse vehicle types, a cluttered environment, and a lack of high‐quality datasets. This study proposes a system that utilizes computer vision technology to identify road vehicles with greater speed and accuracy. First, the dataset was collected and organized in Roboflow to identify the 21 classes of Bangladeshi native vehicle images, along with two additional classes for people and animals. Subsequently, the You Only Look Once v5 (YOLOv5) model underwent training on the dataset. This process produced bounding boxes, which were then refined using the non‐maximum suppression technique. The loss function complete intersection over union is employed to obtain the accurate regression bounding box of the vehicles. The MS COCO (Microsoft Common Objects in Context) dataset weights are included in the YOLOv5 deep learning network for transfer learning. Finally, Python TensorBoard was used to evaluate and visualize the model's performance. The model was developed and validated on the Google Colab platform. A set of experimental evaluations demonstrate that the proposed method is effective and efficient in recognizing Bangladeshi vehicles. In all test road scenarios, the proposed computer vision system for road vehicle identification achieved 95.8% accuracy and 0.3 ms processing time for 200 epochs. This research could lead to intelligent transportation systems and driverless vehicles in Bangladesh.
Molecular identification and subtyping of Cryptosporidium spp. in laboratory mice and rats
Authors: Zhou Shanshan , Hu Xinyu , Li He , Yuan Zhongying , Li Zhen , Liu Aiqin , Jiang Yanyan , Cao Jianping 
Published: December 2024

Cryptosporidium species can infect humans and more than 260 animal species, including 54 rodent species. However, data on the occurrence and genetic characterizations of Cryptosporidium spp. in laboratory rodents are limited. The present study aimed to determine the occurrence rate and genetic characterizations of Cryptosporidium spp. in laboratory mice and rats. We collected 506 fresh combined fecal pellet specimens (457 from mice and 49 from rats) of more than 2,000 laboratory rodents in Heilongjiang Province and Shanghai City, China. Cryptosporidium spp. were identified and subtyped by DNA sequencing of the SSU rRNA and the gp60 genes, respectively. By sequence analysis of the SSU rRNA gene, the occurrence rate of Cryptosporidium spp. was 16.6% (84/506) in combined fecal specimens, with 18.2% (83/457) for mice and 2.0% (1/49) for rats. Cryptosporidium parvum (n = 39), C. tyzzeri (n = 33), and C. parvum + C. tyzzeri (n = 11) were identified in mice. Cryptosporidium parvum was only detected in one rat fecal specimen. At the gp60 locus, 71.4% (60/84) of the Cryptosporidium-positive specimens were successfully amplified, and they all came from mice. We identified five C. parvum subtypes (IIaA14G2R1, IIaA16G2R1, IIaA17G1R1, IIaA17G2R1, and IIaA18G2R1) and two C. tyzzeri subtypes (IXaA6R1 and IXbA8). Based on the identification in laboratory mice of C. parvum subtypes that have been reported previously in humans, the mice infected with this species may threaten human health, especially for people who have contact with the animals and their feces.
Begleitende Therapie von Otitis media bei Kindern
Authors: Corts Magga , Welsch Katja , Dichtl Karoline , Löwensprung Nathalie Rosenhauer-von 
Published: December 2024

Summary4 Expert*innen stellen Ihnen Behandlungsstrategien aus der Biochemie nach Dr. Schüßler, Anthroposophie, Osteopathie und Homöopathie vor.