bluuebunny/crossref_metadata_2025 huggingface dataset:
Exploring Turkey's mosaic of novel variants and complex alleles in cystic fibrosis genetics
Authors: Yıldız Ceren Ayça , Selçuk Balcı Merve , Karabulut Şeyda , Başer Zeynep Münteha , Kalyoncu Mine , Metin Çakar Neval , Akkitap Yiğit Müge Merve , Baysal Eda Esra , Özdemircioğlu Fulya , Uzunoğlu Burcu , Taştan Gamze , Ergenekon Pınar , Gökdemir Yasemin , Erdem Eralp Ela , Karakoç Fazilet , Ata Pınar , Karadağ Bülent
Published: September 2024

Backgrounds

Genetic variants in CF transmembrane conductance regulator (CFTR) gene causes cystic fibrosis (CF), a prevalent autosomal recessive disorder. More than 2000 variants in CFTR have been described as disease causative. This study aims to delineate the genotypic and phenotypic landscape of CF among people with CF (pwCF) followed at the largest CF center in Turkey.

Methods

We conducted a descriptive and retrospective analysis of 481 patients registered with the European CF Society Patient Registry and followed at Marmara University Selim Çöremen CF Center from 2015 onwards. Comprehensive CFTR analysis was utilized for genetic diagnosis. Besides the whole cohort, novel variants and complex alleles were also described.

Results

Our cohort exhibited a broad spectrum of CFTR variants, with 136 different variants detected, indicating substantial genetic diversity. The F508del variant was less prevalent in our cohort compared to US and European averages, which could reflect unique genetic and demographic characteristics of the Turkish population. Additionally, we identified nine novel variants in 12 alleles, which enhances the understanding of CF's genetic complexity in this region, and complex alleles in 32 pwCF.

Conclusion

Our research underscores the heterogeneity of CFTR variants in Turkey and highlights the necessity for extensive genetic profiling particularly for diverse populations to provide effective personalized treatment strategies. It is crucial to understand the full spectrum of CFTR variants with the advent of CFTR modulators.
A survey of cystic fibrosis physicians' views on lung transplant referral in the era of elexacaftor/tezacaftor/ivacaftor
Authors: Burdis Nora , Milinic Tijana , Bartlett Lauren E. , Goss Louisa , Tallarico Erin , Boyle Abigail , Thaxton Abigail , Turner Grant A. , Benvenuto Luke J. , Faro Albert , Goss Christopher H. , Kapnadak Siddhartha G. , Ramos Kathleen J.
Published: September 2024

Rationale

In 2015, a survey of cystic fibrosis (CF) physicians showed significant gaps in lung transplant (LTx) referral knowledge. Subsequently, LTx referral guidelines for people with CF were published, and elexacaftor/tezacaftor/ivacaftor (ETI) became available for >80% of people in the United States (US). We sought to assess physicians’ LTx referral knowledge and self‐reported referral practices.

Methods

CF center directors in the US were surveyed about LTx. Questions addressed transplant referral indications, contraindications, testing, and the impact of ETI on referral timing. Thematic analysis was used to assess responses to open‐ended questions.

Results

There were 110/309 (36%) responses. Respondents identified several referral indications, including rapid decline in FEV1 (93%), recurrent hemoptysis (80%), hypoxemia (79%), and pulmonary hypertension (75%). Over 70% of respondents reported using oximetry, echocardiogram, and blood gas to assess disease severity. Respondents were more likely to find early LTx discussions useful for patients not on modulators versus on modulators (87% vs. 63%, p < .005). Most respondents (66%) reported delaying LTx referral for some patients with FEV1 30%–40% who met criteria, while 26% had delayed referral for patients with FEV1 < 30%. Uncertainty regarding optimal LTx referral timing for patients on ETI was a prominent theme of the qualitative analysis.

Conclusions

While physician knowledge about LTx referral indications appears improved since the CF referral guidelines were published, uncertainty about referral timing is pervasive, and the guidelines will need to be updated as more data become available about the long‐term effectiveness of ETI in advanced lung disease.
Diagnostic approach to the etiology of recurrent pneumonia in children
Authors: Özçelik Taha , Can Oksay Sinem , Girit Saniye
Published: September 2024

Background

Recurrent pneumonia (RP) accounts for 7.7%–9% of childhood pneumonia. Identifying the cause of RP is crucial for infection control and reducing mortality and morbidity. This study aimed to investigate the etiology, risk factors, and diagnostic procedures of RP based on the literature using a diagnostic algorithm.

Methods

Our study included RP patients aged 0–18 years who were followed up as outpatients or inpatients between 2018 and 2021. Patients were analyzed retrospectively using the national health database. Patients with RP were identified by ICD diagnosis codes. Etiology and risk factors were determined based on the occurrence of RP in the same or different areas.

Results

The rate of RP was found to be 14.4% among the cases of recurrent lower respiratory tract infection. Of these, 27.6% occurred in the same area and 72.4% in different areas. The underlying etiology was identified in 224 of 250 RP patients (89.6%). RP in different areas was mainly due to neuromuscular diseases, whereas asthma, right middle lobe syndrome, and congenital lung or airway structural disease were common causes of RP in the same area. Malnutrition, passive smoke exposure, and prematurity were common risk factors in both groups.

Conclusions

Systematic etiological investigations should take into account the characteristics of the patient population and geographical region. The use of diagnostic algorithms based on recurrence in the same or different areas is particularly beneficial. Whether asthma is causally related to RP episodes or is a coincidental association due to inadequate differential diagnosis remains unclear.
O‐GlcNAc modification of HSP27 alters its protein interactions and promotes refolding of proteins through the BAG3/HSP70 co‐chaperone
Authors: Javed Afraah , Johnson Oleta T. , Balana Aaron T. , Volk Regan F. , Langen Andreas , Ahn Benjamin S. , Zaro Balyn W. , Gestwicki Jason E. , Pratt Matthew R.
Published: September 2024

Almost all types of cellular stress induce post‐translational O‐GlcNAc modifications of proteins, and this increase promotes cell survival. We previously demonstrated that O‐GlcNAc on certain small heat shock proteins (sHSPs), including HSP27, directly increases their chaperone activity as one potential protective mechanism. Here, we furthered our use of synthetic proteins to prepare biotinylated sHSPs and show that O‐GlcNAc modification of HSP27 also changes how it interacts within the sHSP system and the broader HSP network. Specifically, we show that O‐GlcNAc modified HSP27 binds more strongly to the co‐chaperone protein BAG3, which then promotes refolding of a model substrate by HSP70. We use proteomics to identify other potential HSP27 interactions that are changed by O‐GlcNAc, including one that we confirm with another sHSP, αB‐crystallin. These findings add additional evidence for O‐GlcNAc as a switch for regulating protein–protein interactions and for modifications of chaperones as one mechanism by which O‐GlcNAc protects against protein aggregation.
Rigidifying Flexible Sites: A Promising Strategy to Improve Thermostability of Lysophospholipase From Pyrococcus abyssi
Authors: Nazir Arshia , Ijaz Maham , Rehman Hafiz Muzzammel , Sajjad Muhammad
Published: September 2024

High thermostability of the enzymes is one of the distinguishing characteristics that increase their industrial utility. In the current research work, rigidifying the flexible amino acid residues of a lysophospholipase (Pa‐LPL) from Pyrococcus abyssi was used as a protein engineering approach to improve its thermostability. A truncated variant of Pa‐LPL (t‐LPL∆12) was constructed by trimming its 12 amino acid residues (50–61) through overlap extension PCR. The truncated enzyme worked optimally at 65°C and pH 6.5 with remarkable thermostability at 65°C–85°C. In comparison to wild‐type Pa‐LPL, 5.8 and 1.2‐fold increase in half‐life (t1/2) of t‐LPL∆12 was observed at 65 (optimum temperature) and 95°C, respectively. The activity of t‐LPL∆12 was stimulated by 1 mM Cu2+ followed by Ca2+, Ni2+, Co2+, and Mg2+. Both substrate docking and experimental results indicated that the truncated enzyme could hydrolyze a variety of p‐nitrophenyl esters. K
m, V
max, and K
cat for enzymatic hydrolysis of p‐nitrophenyl butyrate were calculated to be 1 ± 0.087 mM, 1456 ± 36.474 U/mg, and 1.397 × 1011 min−1, respectively. In short, broad substrate specificity and thermostability of t‐LPL∆12 are some of the distinctive features that make it an ideal candidate for degumming of vegetable oils.
Performance Recovery of p‐GaN Etch‐Induced Degradation via Atomic Layer Deposition In Situ N2 Plasma and Postanneal‐Assisted Passivation
Authors: Sun Yingfei , Yu Guohao , Li Ang , Lu Shaoqian , Li Yu , Zhang Yuxiang , Du Zhongkai , Zhang Bingliang , Huang Zixuan , Zhao Desheng , Zeng Zhongming , Zhang Baoshun
Published: September 2024

The etching of p‐GaN requires extremely strict control over etching depth and morphology; otherwise, it will result in poor electrical characteristics. This work uses ALD(Atomic layer deposition) in situ N2 plasma and postanneal‐assisted passivation to effectively recover the electrical properties degraded by p‐GaN etching. Compared to unpassivated devices, this approach eliminates surface oxygen bonds, recovering drain current from 10 to 126 mA mm−1, reducing gate leakage by an order of magnitude, achieving an ON/OFF current ratio exceeding 108, a breakdown voltage of 930 V at 1 μA mm−1, and effectively suppressing current collapse.
Wide‐Range Wavelength Light Scattering from Black Silicon Layers: Profits for Perovskite/Si Tandem Solar Cells
Authors: Ayvazyan Gagik , Dashtoyan Harutyun , Hakhoyan Levon
Published: September 2024

This study investigates the optical properties (light reflectance, absorptance, transmittance, and scattering) of black silicon (b‐Si) layers formed using reactive ion etching method. The corresponding spectra are determined across the visible, near‐infrared, and near‐ultraviolet wavelength ranges (250–1400 nm). It is demonstrated that b‐Si layers reduce the reflectance, and increase the absorptance and light scattering due to the disordered distribution of the nanoneedles. Increasing the etching duration strengthens this trend. It is shown that b‐Si layers etched for 10 min can be considered perfect light scatterers upon reflection at wavelengths less than 700 nm. Based on the obtained results, the possible profits of light scattering from the b‐Si interlayer for perovskite/Si tandem solar cells are analyzed. It is substantiated that the b‐Si interlayer can increase the useful absorptance not only within the bottom Si solar subcell but also in the top perovskite solar subcell. The prospects for future research directions and challenges are also provided.
Nonlinear sliding mode predictive trajectory tracking control of underactuated marine vehicles: Theory and experiment
Authors: Wang Run‐Zhi , Hao Li‐Ying , Wu Zhi‐Jie
Published: September 2024

This article introduces a control method for trajectory tracking of underactuated unmanned marine vehicles (UMVs), employing the sliding mode predictive control (SMPC) scheme. To address the challenges of demonstrating system stability with a local feedback controller for underactuated UMVs in model predictive control (MPC), this article proposes an auxiliary controller design method based on sliding mode control. A sliding mode dynamic is derived through an error system and sliding surface equations. Compared to existing literature, which predominantly emphasizes demonstrating input‐state stability, this strategy ensures the asymptotic stability of the closed‐loop system by introducing a novel method for selecting weight matrices. Furthermore, extended terminal sets and feasible sets constructed via sliding variables are provided, thereby reducing conservatism. Ultimately, the SMPC scheme is validated through simulation and hardware experiments providing quantitative evidence of its effectiveness in real‐world applications.
Path tracking control of high‐speed intelligent vehicles considering model mismatch
Authors: He Zhicheng , Zhang Kailin , Wei Baolv , Huang Jin , Wang Yufan , Li Eric
Published: September 2024

The precision of path tracking in high‐speed intelligent vehicles is significantly influenced by model mismatch arising from factors like parameter uncertainty, model simplification, external disturbances, and other sources. In this paper, we propose a novel robust control strategy that integrates the compensation function observer (CFO) with the model predictive control (MPC) method, utilizing an optimized vehicle dynamics model (opt‐model) to address this challenge, called OCMPC. Initially, we establish the opt‐model to design predictive model by leveraging suspension kinematics and compliance (K&C) data collected from a miniature pure electric vehicle. Remarkably, the opt‐model exhibits improved accuracy compared to the conventional vehicle dynamics model (con‐model) while preserving the same degrees of freedom (DOF). Next, we incorporate CFO into the path tracking process of high‐speed intelligent vehicles, enabling dynamic real‐time observation of the model mismatch between the prediction model and the actual vehicle. CFO can capture the dynamics of the vehicle, including nonlinearities and uncertainties, without placing a heavy computing burden on the controller. This observed mismatch is subsequently employed for feed‐forward compensation, facilitating the attainment of optimal control values. Ultimately, we validate the effectiveness of our proposed method in enhancing path tracking accuracy for high‐speed intelligent vehicles through co‐simulation using Simulink and Carsim.
Sustainable development goals implementation in a post‐colonial African State: Any future for the African Continental Free Trade Area?
Authors: Chidozie Felix , Osimen Goddy Uwa , Bhadmus Joy , Newo Oluwamurewa
Published: September 2024

This paper examined the prospect of the African Continental Free Trade Agreement in the context of the SDGs. It took its bearing from the contemporary structure of most African states, arguing that the reality of the continent's postcolonial condition could impede the implementation of the AfCFTA. Its refrain is that studies on how Nigeria and South Africa, as regional powers, have used their economic and political influence to advance the SDGs' implementation throughout Africa, using different South–South development frameworks are few. In other words, the institutionalization of a strategic collaboration agenda through a Nigeria‐South Africa‐coordinated African response to the new powers, in the area of timely implementation of the SDGs is lacking. This study affirms that for the AfCFTA to be successful, it is incumbent on the regional hegemons to build a suitable institutional framework and governance structure that upholds the rule of law and encourages harmonization, consistency, and predictability.
Characterization of Bacterial Nanocellulose Produced by Tropical Fruit‐Derived Bacteria in Coconut Water Medium Supplemented with Pineapple Peel Extract
Authors: Gadizza Perdani Claudia , Nurika Irnia , Gunawan Setiyo
Published: September 2024

Agro‐industrial residues, such as surplus fruits and vegetables are increasingly recognized as valuable sources for isolating bacterial strains capable of efficiently producing bacterial nanocellulose (BNC). This study presents a novel approach to BNC production using Komagataeibacter intermedius SB 110 isolated from rotten pineapple, cultivated in a sustainable medium of coconut water enriched with 5% sucrose and 0.5% pineapple peel extract. By leveraging agricultural waste, this method accelerates BNC biosynthesis to less than 7 days and achieves a yield of 5.563 g/L over 14 days, a 1.58‐fold increase compared with traditional media. The BNCs were primarily composed of cellulose type I, with minor cellulose type II, ultrafine fiber sizes (58.3 to 84.98 nm) and a high crystallinity index (60.81% to 78.34%), indicating superior structural quality. This innovative process not only demonstrates the potential of using low‐cost, sustainable substrates for high‐yield BNC production but also significantly enhances both the efficiency and scalability of the production process, setting a new standard over existing methods.
Site‐Selective Biofunctionalization of 3D Microstructures Via Direct Ink Writing
Authors: Mathew George , Lemma Enrico Domenico , Fontana Dalila , Zhong Chunting , Rainer Alberto , Sekula‐Neuner Sylwia , Aghassi‐Hagmann Jasmin , Hirtz Michael , Berganza Eider
Published: September 2024

Two‐photon lithography has revolutionized multi‐photon 3D laser printing, enabling precise fabrication of micro‐ and nanoscale structures. Despite many advancements, challenges still persist, particularly in biofunctionalization of 3D microstructures. This study introduces a novel approach combining two‐photon lithography with scanning probe lithography for post‐functionalization of 3D microstructures overcoming limitations in achieving spatially controlled biomolecule distribution. The method utilizes a diverse range of biomolecule inks, including phospholipids, and two different proteins, introducing high spatial resolution and distinct functionalization on separate areas of the same microstructure. The surfaces of 3D microstructures are treated using bovine serum albumin and/or 3‐(Glycidyloxypropyl)trimethoxysilane (GPTMS) to enhance ink retention. The study further demonstrates different strategies to create binding sites for cells by integrating different biomolecules, showcasing the potential for customized 3D cell microenvironments. Specific cell adhesion onto functionalized 3D microscaffolds is demonstrated, which paves the way for diverse applications in tissue engineering, biointerfacing with electronic devices and biomimetic modeling.
A hybrid‐ensemble model for software defect prediction for balanced and imbalanced datasets using AI‐based techniques with feature preservation: SMERKP‐XGB
Authors: Mustaqeem Mohd , Siddiqui Tamanna , Mustajab Suhel
Published: September 2024

Maintaining software quality is a significant challenge as the complexity of software is increasing with the rise of the software industry. Software defects are a primary concern in complex modules, and predicting them in the early stages of the software development life cycle (SDLC) is difficult. Previous techniques to address this issue have not been very promising. We have proposed “A hybrid ensemble model for software defect prediction using AI‐based techniques with feature preservation” to overcome this problem. We have used the National Aeronautics and Space Administration (NASA) dataset from the PROMISE repository for testing and validation. By applying exploratory data analysis (EDA), feature engineering, scaling, and standardization, we found that the dataset is imbalanced, which can negatively affect the model's performance. To address this, we have used the Synthetic Minority Oversampling (SMOTE) technique and the edited nearest neighbor (ENN) (SMOTE‐ENN). We have also used recursive feature elimination cross‐validation (RFE‐CV) with a pipeline to prevent data leaking in CV and kernel‐based principal component analysis (K‐PCA) to minimize dimensionality and selectively relevant features. The reduced dimensional data is then given to the eXtreme Gradient Boosting (XGBoost) for classification, resulting in the hybrid‐ensemble (SMERKP‐XGB) model. The proposed SMERKP‐XGB model is better than previously developed models in terms of accuracy (CM1: 97.53%, PC1: 92.05%, and PC2: 97.45%, KC1:95.65%), and area under the receiver operating characteristic curve values (CM1:96.30%, PC1:98.30%, and PC2:99.30%: KC1: 93.54) and other evaluation criteria mentioned in the literature.
Densities, Surface Tensions, and Viscosities of Molten High‐Silicon Electrical Steels with Different Silicon Contents
Authors: Neubert Lukas , Bellé Matheus Roberto , Yamamoto Taisei , Nishi Tsuyoshi , Yamano Hidemasa , Ahrenhold Frank , Volkova Olena
Published: September 2024

Density, surface tension, and viscosity of various liquid electrical steels are measured at different temperatures, varying in their silicon content between 3 and 6 mass%. Density and surface tension are determined using the maximum bubble pressure method, while viscosity is investigated comparatively using a vibrating finger viscometer and an oscillating crucible viscometer. The results are compared with models known from the literature. Based on this, the density of the steel [ρ] = kg m−3 and the surface tension [σ] = N m−1 can be described as a function of temperature [θ] = °C and silicon content [Si] = mass% using the equations: , . There is a lack of experimental data in the literature for high‐temperature thermophysical properties for electrical steels. This underlines once again the novelty and significance of this study, as the determined thermophysical properties are essential for a wide range of applications. For instance, they are crucial in the production of metallic powders for additive manufacturing by atomization to adjust the properties of the powders precisely. The findings are also important for steelmaking itself, as the corrosion behavior of refractory material can be better determined.
Experimental Determination of Slag Emissivities for Enhanced Slag Control by Infrared‐Based Systems
Authors: Rangavittal Bharath Vasudev , Köchner Herbert , Glaser Björn
Published: September 2024

For today's high‐quality steel production, good control of slag composition is essential in secondary steelmaking. However, the conventional slag analysis practice, involving sampling, sample preparation, and analysis, is very time‐consuming. This work is the first step toward an investigation of infrared (IR)‐based systems and can be used for online slag composition monitoring using the principle that different slag compositions have different emissivities in the IR wavelength range. Therefore, this work experimentally determines emissivity values of slags as a function of composition at steelmaking temperature, since available data for slags are very limited in the literature. The emissivities of three different slag compositions belonging to the Al2O3–CaO–SiO2–MgO system are investigated at 1773 K. The investigated emissivities are in the range of 0.75–0.87, with the best repeatability seen in the slag which is fully liquid at 1773 K. Variations in emissivities are observed within the other slags due to the presence of solid phases. Although the data clearly indicate a difference of emissivities as a function of slag composition, further experiments must be performed to evaluate the emissivities of other characteristic slags at different temperatures in order to further assess the applicability of IR‐based systems for slag composition control.
The Influence of Microstructure and Process Design on the Plastic Stability of 4 wt% Medium‐Manganese Steels
Authors: Gülbay Oguz , Büßenschütt Klaus , Kozlowska Aleksandra , Grajcar Adam , Gramlich Alexander
Published: September 2024

The influence of different microstructures on the plastic stability of an air‐hardened industrially produced medium‐manganese steel is presented. For this matter, heat treatment parameters before and during intercritical annealing (IA) are varied, to achieve different microstructures. The resulting duplex microstructure is consecutively tested by tensile tests, which are monitored by digital image correlation (DIC) to obtain information on the local plastic deformation. The tests are accompanied by microstructure investigations using optical, scanning electron, and transmission electron microscopy. Finally, X‐ray and electron backscatter diffraction experiments are performed before and after deformation, to describe the altering phase fractions. It is demonstrated that the effect of the deformation temperature prior to IA treatment has a significant influence on the duplex microstructure, as it changes the austenite morphology from lamellar to globular and increases the phase fraction. The change in austenite phase fraction and morphology results in a higher yield strength (≈100 MPa), as well as higher uniform and total elongations (+2% and +5%, respectively). The DIC and tensile tests reveal that these differences in the austenite phase lead to a complete change in the strain hardening behavior, from continuous flow to discontinuous serrated flow, with clearly visible deformation bands during plastic deformation.
An Opportunity for Synergizing Desalination by Membrane Distillation Assisted Reverse‐Electrodialysis for Water/Energy Recovery
Authors: Mujahid Muhammad , Umar Farooq Muhammad , Wang Chao , Arkook Bassim , Harb Moussab , Ren Long‐Fei , Shao Jiahui
Published: September 2024

Industry, agriculture, and a growing population all have a major impact on the scarcity of clean‐water. Desalinating or purifying contaminated water for human use is crucial. The combination of thermal membrane systems can outperform conventional desalination with the help of synergistic management of the water‐energy nexus. High energy requirement for desalination is a key challenge for desalination cost and its commercial feasibility. The solution to these problems requires the intermarriage of multidisciplinary approaches such as electrochemistry, chemical, environmental, polymer, and materials science and engineering. The most feasible method for producing high‐quality freshwater with a reduced carbon footprint is demanding incorporation of industrial low‐grade heat with membrane distillation (MD). More precisely, by using a reverse electrodialysis (RED) setup that is integrated with MD, salinity gradient energy (SGE) may be extracted from highly salinized MD retentate. Integrating MD‐RED can significantly increase energy productivity without raising costs. This review provides a comprehensive summary of the prospects, unresolved issues, and developments in this cutting‐edge field. In addition, we summarize the distinct physicochemical characteristics of the membranes employed in MD and RED, together with the approaches for integrating them to facilitate effective water recovery and energy conversion from salt gradients and freshwater.
Modern chemical graph theory
Authors: Leite Leonardo S. G. , Banerjee Swarup , Wei Yihui , Elowitt Jackson , Clark Aurora E.
Published: September 2024

Graph theory has a long history in chemistry. Yet as the breadth and variety of chemical data is rapidly changing, so too do graph encoding methods and analyses that yield qualitative and quantitative insights. Using illustrative cases within a basic mathematical framework, we showcase modern chemical graph theory's utility in Chemists' analysis and model development toolkit. The encoding of both experimental and simulation data is discussed at various levels of granularity of information. This is followed by a discussion of the two major classes of graph theoretical analyses: identifying connectivity patterns and partitioning methods. Measures, metrics, descriptors, and topological indices are then introduced with an emphasis upon enhancing interpretability and incorporation into physical models. Challenging data cases are described that include strategies for studying time dependence. Throughout, we incorporate recent advancements in computer science and applied mathematics that are propelling chemical graph theory into new domains of chemical study.

This article is categorized under:

Molecular and Statistical Mechanics > Molecular Dynamics and Monte‐Carlo Methods

Structure and Mechanism > Computational Materials Science

Structure and Mechanism > Molecular Structures
The Role of Alpha-Synuclein Pathology
Authors: Fu YuHong , Tanglay Onur , Li Hongyun , Halliday Glenda M.
Published: September 2024

Alpha-synuclein (αSyn) is a conformationally flexible protein that is known to be involved in key neuronal biological processes and the pathogenesis of Parkinson’s disease (PD). The aggregation of αSyn in the brain is not only the neuropathological hallmark of PD but also characterizes other primary synucleinopathies, including dementia with Lewy bodies (DLB) and multiple system atrophy (MSA). These disorders share common clinical motor symptoms, namely, parkinsonism, which is associated with the loss of nigral dopaminergic neurons. Pathologically the selective neurodegeneration in synucleinopathies is linked to αSyn dysfunction and its abnormal interactions with other proteins. It should be noted that the aggregation of αSyn is not an absolute pathogenic cause for clinically or genetically diagnosed PD, as a minority of patients have substantial loss of nigral dopaminergic neurons in the absence of αSyn pathology. In addition, αSyn pathology is a commonly observed autopsy finding in asymptomatic senescent brains, confirming that αSyn pathology can occur independently of parkinsonism. Presently, there is no causative treatment for synucleinopathies; therefore, targeting αSyn remains the key research focus. Despite the importance of αSyn in the pathology of synucleinopathies, there is no consensus on reliable markers for defining toxic pathogenic αSyn aggregates in postmortem human brain tissue or on any critical αSyn-inducing pathological events. As such, there is an urgent need to establish a panel of antibodies and animal models for studying synucleinopathies. This chapter summarizes the traditional and recently developed methodologies in the field with suggestions on toolkits to assess the role of αSyn pathology.
T-DVAE: A Transformer-Based Dynamical Variational Autoencoder for Speech
Authors: Perschewski Jan-Ole , Stober Sebastian
Published: September 2024

In contrast to Variational Autoencoders, Dynamical Variational Autoencoders (DVAEs) learn a sequence of latent states for a time series. Initially, they were implemented using recurrent neural networks (RNNs) known for challenging training dynamics and problems with long-term dependencies. This led to the recent adoption of Transformers close to the RNN-based implementation. These implementations still use RNNs as part of the architecture even though the Transformer can solve the task as the sole building block. Hence, we improve the LigHT-DVAE architecture by removing the dependence on RNNs and Cross-Attention. Furthermore, we show that a trained LigHT-DVAE ignores output-to-hidden connections, which allows us to simplify the overall architecture by removing output-to-hidden connections. We demonstrate the capability of the resulting T-DVAE on librispeech and voice bank with an improvement in training time, memory consumption, and generative performance.
Introduction
Authors: Al-Shamsi Humaid O.
Published: September 2024

With cancer being the third leading cause of mortality, the United Arab Emirates (UAE) government has been investing heavily to advance cancer care. There has been a significant investment from both the government and private healthcare institutions to improve and enhance the quality and accessibility of cancer care in the UAE. While data regarding the incidence is becoming more accessible and centralized through the national cancer registry, survival and outcome data for cancer in the UAE are still lacking. Creating a reference book about cancer care in the UAE will not be complete without the historical background. In this introduction, we will summarize the history of cancer care in the UAE over the last 50 years since the UAE was established. This chapter is very important for anyone who is interested in learning about oncology care in the UAE. This book will map the way forward for healthcare providers, regulators, decision-makers, patients, and other stakeholders to advance cancer care in the UAE.
Basic Cancer Research in the UAE
Authors: Hachim Ibrahim Yaseen , Al Heialy Saba , Hachim Mahmood Yaseen
Published: September 2024

Like many other fields in the UAE, cancer research showed a significant achievement. Measuring research outcomes is considered a crucial and critical step in evaluating the research impact. In this chapter, we analyzed various indicators that measure the number and impact of cancer research performed within the UAE in the last decades using the PubMed search engine and the Scopus database. Our results showed an exponential increment in cancer-related publications, from only 66 in 2011 to 865 in 2021. The increment in the number of publications was also associated with an improvement in the quality of cancer-related manuscripts, and this is presented as publication in more diverse and high-ranking journals, including PLOS One, Scientific Reports, Molecules, Asian Pacific Journal of Cancer Prevention, Annals of the New York Academy of Sciences, and Lancet. While United Arab Emirates University, the University of Sharjah, and Tawam Hospital were shown to be the top UAE-affiliated institutions, the National Institutes of Health, the National Cancer Institute, the Medical Research Council (MRC), and the US Department of Health and Human Services represent the top international funding bodies and collaborators. In conclusion, our analysis revealed an exponential increase in cancer research productivity, which is also coupled with improvements in the quality and impact of those research activities. This was achieved through investment in research infrastructure, recruitment of experienced researchers, and the establishment of various training programs.
Oncology and Hematology Fellowship Training in the UAE
Authors: Al-Shamsi Humaid O.
Published: September 2024

Advanced oncology and hematology fellowship training in the UAE is still evolving. In Al Ain, there is one oncology fellowship and one hematology fellowship program in Dubai. The medical oncology fellowship training program at Tawam Hospital, which was launched in August 2019, is the UAE’s sole approved program by the Accreditation Council for Graduate Medical Education-International (ACGME-I) and has graduated only one fellow as of December 2022. In May 2022, the NIHS established an oncology and hematology fellowship committee for the Emirati Board of Medical Oncology and Hematology, and Prof. Humaid Al-Shamsi was named the chairman of this committee. The hematology fellowship and medical oncology fellowship were both approved by the NIHS in November 2022 and December 2022, respectively, and as of December 2022, no program has been accredited by the NIHS in these two programs, yet it is expected that multiple hospitals will apply for accreditation in 2023.

The interest in medical oncology and hematology as subspecialties is not common, and only a limited number of UAE trainees are joining these subspecialties. There is a need to increase awareness and attraction to this subspecialty.
Fertility Preservation and Oncofertility in the UAE
Authors: Kazim Nahla
Published: September 2024

Fertility preservation (FP) has always been an integral part of assisted reproductive technology (ART) for the treatment of couples with infertility. Simultaneously, the practice of female and male fertility cryopreservation has expanded in the UAE over the last few decades through major leaps in its healthcare system, improvements in ART with vitrification techniques, and advances in cancer screening and anticancer treatments, resulting in higher survivorship with a focus on reproductive health. Various gynecological, oncological, and benign medical diseases, as well as their treatments, can adversely hamper an individual’s fertility, and considering FP options as early as possible during the treatment planning phase allows the best chances for restoring the full range of reproductive potential. Among these options, embryo and oocyte cryopreservation are the most reliable modalities for women with partners and post-pubertal girls, respectively. While for males, ejaculated or testicular sperm cryopreservation remains the principle established modality for fertility preservation used for men and adolescents.

This chapter discusses current available methods of female and male fertility preservation options in the UAE with their historical milestones, while highlighting opportunities and challenges for implementing other available novel strategies and improving multidisciplinary collaboration, which are fundamental to comprehensive fertility preservation care.
Surgical Oncology in the UAE
Authors: El Jamali Faek R. , Sidani Chafik , Grobmyer Stephen R.
Published: September 2024

The healthcare sector in the UAE is undergoing a major evolution that is mirroring the country’s overall transformation into a first-world country. Cancer care plays an essential role in this evolution. The specialty of surgical oncology has now become largely recognized as a result of the efforts of major societies in the world, led by the Society of Surgical Oncology.

In parallel with the overall development of the UAE and the development of the healthcare services infrastructure, surgical oncology in the UAE is migrating from individual practices within private institutions to multidisciplinary care in specialized cancer centers offering the complete gamut of state-of-the-art oncology centers. With this evolution, the UAE is poised to become a destination for health tourism, catering to the requirements of nearly a billion people in the Middle East and North Africa (MENA).
Breast Cancer in the UAE
Authors: Al-Awadhi Aydah , Iqbal Faryal , Kourie Hampig R. , Al-Shamsi Humaid O.
Published: September 2024

In 2020, breast cancer (BC) was the most diagnosed cancer worldwide, with 2.26 million new cases and 685,000 deaths. In the UAE, breast cancer was one of the leading causes of cancer deaths in 2021, with an estimated average of 9.64% of cancer deaths per year. The total number of breast cancer cases reported to the UAE National Cancer Registry among the UAE population was 1139, representing 20.3% of all malignant cases in 2021. This chapter will review published articles and research data from the United Arab Emirates (UAE) to learn more about the features and outcomes of breast cancer. It will also draw attention to current unmet needs in order to focus on resource allocation and future clinical and research initiatives.
Pancreatic Cancer in the UAE
Authors: Al-Shamsi Humaid O. , Iqbal Faryal , Nijhawan Neil A. , Kourie Hampig R. , Abdelwahed Nadia , Abu-Gheida Ibrahim H. , Ammori Basil
Published: September 2024

In 2021, 110 cases of pancreatic cancer were diagnosed in the UAE population, with 31 cases among UAE citizens and 79 among non-UAE citizens. There is no published data about the stage of presentations in these cases, yet in our experience, it is in keeping with international figures. Presentation with locoregionally advanced and inoperable (30–35%) or metastatic disease (50–55%) remains the most commonly encountered scenario in patients with pancreatic ductal adenocarcinoma, for whom there is no role for palliative resection. The treatment of pancreatic ducal adenocarcinoma, whether early or metastatic, is advanced and largely follows NCCN guidelines in the UAE. One of the major challenges is decentralized surgical care due to the large number of cancer care providers in the UAE, which may affect the surgical outcome in lower-volume centers. The delivery of palliative care for patients with pancreatic cancer varies across the UAE, with variable accessibility based on the institution.
Head and Neck Malignancies in the UAE
Authors: Chintakuntlawar Ashish V. , Al-Halabi Hani , Chehal Aref
Published: September 2024

Head and neck squamous cell carcinomas (HNSCCs) are one of the most common malignancies in the world. In this chapter, we discuss the incidence, pathogenesis, treatment, and future challenges in the management of HNSCC in the United Arab Emirates. Tobacco, alcohol, betel nuts, chewing tobacco, and chronic irritation and inflammation of the mucosal surfaces lead to these cancers. Human papillomavirus-associated oropharyngeal cancers (HPV-OPSCCs) occur at a lower rate compared to the western hemisphere. Due to the unique demographics of the UAE, HNSCC is an important cancer to focus on with regards to improving access to treatment, therapeutic paradigms, and research in both epidemiological and interventional clinical trials. In general, the treatment is aligned with international standards of care, with patients receiving expert surgical intervention, advanced radiotherapy treatments, and novel medical treatments, including immunotherapy. However, registry data, access to transoral robotic surgery, and interventional trials are severely lacking and need further collaboration within the oncologic community.
Suggested Quality Control Measures for Cancer Care in the UAE
Authors: Al-Shamsi Humaid O.
Published: September 2024

Cancer care in the UAE has evolved dramatically in the last few decades, but unfortunately, despite the progress, there is a lack of quality indicators implemented to ensure the delivery of unified and standard treatment for cancer across the UAE. One of the major challenges is the varying degree of experience and training of oncologists who come from all around the globe to practice in the UAE. With many following the NCCN guidelines, there are many others still practicing solo, which may affect the outcome of cancer patients. In this chapter, we will review recommendations for improving the quality of cancer care in the UAE. We recommend the establishment of an independent Advisory Cancer Care Quality Council to monitor the quality of care in both government and private hospitals across the UAE. We recommend adopting a cancer system quality index and also having a regular audit of cancer centers in the UAE to ensure adherence to the quality measure. These measures should address all aspects of cancer care, like radiation, surgical procedures, palliative care, and many others. A focus on quality control should also address the current cancer screening programs and accessibility.
Factors Influencing Seeking Cancer Care Abroad for UAE Citizens
Authors: Al-Shamsi Humaid O.
Published: September 2024

A significant number of Emirati cancer patients travel abroad to seek cancer care. Although full-fledged diagnostic and therapeutic cancer care services are available in the United Arab Emirates, patients still travel overseas to seek opinions and treatment. There is a need to disseminate information concerning the type and availability of services and expertise and address the concerns of patients. Also, there is a need to address factors that encourage patients and their families to seek treatment abroad, which may lessen the familial and societal pressures on the patients; supporting extended sick leave for cancer patients and their companions while being treated locally, just as they are abroad; and a physician’s attitude encouraging patients’ decisions to travel abroad. Treatment abroad should be limited to more complex cancer cases requiring specialized cancer care abroad that is unavailable in the United Arab Emirates, after a consensus review by an accredited comprehensive cancer center. Restoring public and community trust in cancer care in the UAE needs special attention and outreach programs at the national level, as well as engagement and commitment from the regulators and sponsoring agencies for traveling abroad. Focused qualitative and quantitative studies are much needed to address factors leading to Emirati patients seeking cancer care abroad and to put a framework in place to address this phenomenon and increase acceptance of being treated locally.
Akute Polyarthritis nach Karibikaufenthalt
Authors: Mayer Johannes , Köhm Michaela , Wahle Matthias
Published: September 2024

Eine 59-jährige Patientin wird wegen einer akut aufgetretenen Polyarthritis nach Karibikreise vorgestellt. Begleitend bestehen konstitutionelle Symptome sowie Myalgien und Arthralgien. In der Bildgebung zeigt sich eine Synovitis der Hand- und Fingergrundgelenke ohne erosive Veränderungen. Immunserologisch stellen sich zudem normwertige Befunde ohne Hinweis auf Autoimmunerkrankung oder Vaskulitis dar. In der erweiterten Diagnostik zeigen sich serologische Hinweise für eine Infektion mit dem Chikungunya-Virus.
Bemessungsempfehlungen zur Invalidität in der privaten Unfallversicherung – fachübergreifender Konsens – Stand 09/2024
Authors: Klemm H. T. , Ludolph E. , Willauschus W. , Wich M. , Weber S. , Fuhrmann R. , Heintel T.
Published: September 2024

Grundlage der Leistung eines privaten Unfallversicherers ist die Invaliditätsleistung, die ärztlich fristgerecht festzustellen ist. Der Versicherer gibt pauschalierte Sätze der Gliedertaxe für Verlust oder Funktionsunfähigkeit vor, und der ärztliche Sachverständige muss dann auf allgemein anerkannte Bemessungsempfehlungen zurückgreifen können, um den vorgegebenen Rahmen auf die konkrete, individuelle Situation des Versicherten anwenden zu können. Es handelt sich in dieser Arbeit um fachübergreifend konsentierte Eckwerte der Invaliditätsbemessung, die Grundlage einer einheitlichen ärztlichen Begutachtung von unfallbedingten Funktionsbeeinträchtigungen in der privaten Unfallversicherung sein sollen.

Mit Veröffentlichung dieser Bemessungsempfehlungen der FGIMB werden die Empfehlungen von Schröter und Ludolph aus 2009 [12] zurückgenommen, sodass jetzt die Bemessungsempfehlungen der FGIMB an deren Stelle maßgeblich sind.
Fatigue und sensomotorische Instabilität
Authors: Urban Thomas , Reinhardt Fritjof , Lohse Peter , Spitzer Stefan G. , Rasche Luise , Reichmann Heinz
Published: September 2024

Hintergrund

Für die Behandlung der Symptome des Post-COVID-19-Syndroms wird derzeit keine kausale Therapie nach evidenzbasierten Kriterien breit empfohlen. Die Evaluation der Veränderungen des Leitsymptoms Fatigue und der sensomotorischen Instabilität durch eine individualisierte beanspruchungsgesteuerte Trainingstherapie sowie durch eine intensivierte kognitive Verhaltenstherapie war das übergeordnete Ziel der Interventionsstudie über einen 3‑jährigen Zeitraum (Q1-2021 bis Q4-2023).

Methodik

Es wurden in den 3 Jahren im Post-COVID-19-Zentrum Lausitz (Senftenberg) 407 geimpfte nukleokapsidpositive Patienten behandelt. Bei 78 (rd. 19 %) von ihnen wurden als Leitsyndrome Fatigue/immunometabolische Depression und sensomotorische Instabilität konstatiert. Die Evaluation der individualisierten beanspruchungsgesteuerten Trainingstherapie erfolgte anhand der konkreten Post-COVID-19-Syndromatik und motorischer Fatigability-Parameter. Die sekundäre psychosomatische Syndromatik wurde mit kognitiven Fatigability-Parametern und mit Instrumenten der kognitiven Verhaltenstherapie bewertet. Die Untersuchung verhaltensbeeinflussender Parameter fand in Q2-2023 bis Q4-2023 mit einem leitfadengestützten qualitativen Interview unter den Therapieteilnehmern statt.

Ergebnisse

Die Post-COVID-19-Leitsymptomen „Fatigue“, „sensomotorische Instabilität“, „neuropsychiatrische Symptome“, „kardionale/autonome Dysfunktion“ und „Schmerzen“ verbesserten sich signifikant in der Gesamtkohorte sowie bei der geschlechtsspezifischen Analyse. Eine Verschlechterung trat bei „sekundären psychosomatischen Symptomen“ auf. Für alle motorischen Fatigability-Parameter konnte für die Gesamtkohorte mit dem Cohens d-Wert ein therapeutischer Effekt nachgewiesen werden. Positive Wirkungen erzielte eine Intensivierung der kognitiven Verhaltenstherapie durch eine zunehmende Entwicklung der Eigenaktivität der Patienten sowie deren Selbstkontrolle unter Einsatz von Persuasion und Gamification.
Reshetikhin–Turaev TQFTs Close Under Generalised Orbifolds
Authors: Carqueville Nils , Mulevičius Vincentas , Runkel Ingo , Schaumann Gregor , Scherl Daniel
Published: September 2024

We specialise the construction of orbifold graph TQFTs introduced in Carqueville et al. (Orbifold graph TQFTs) to Reshetikhin–Turaev defect TQFTs. We explain that the modular fusion category $$\mathcal {C}_\mathcal {A}$$

C
A

constructed in Mulevičius and Runkel (Quant Topol 13(3):459–523, 2023. https://doi.org/10.4171/QT/170) from an orbifold datum $$\mathcal {A}$$
A
in a given modular fusion category $$\mathcal {C}$$
C
is a special case of the Wilson line ribbon categories introduced as part of the general theory of orbifold graph TQFTs. Using this, we prove that the Reshetikhin–Turaev TQFT obtained from $$\mathcal {C}_\mathcal {A}$$

C
A

is equivalent to the orbifold of the TQFT for $$\mathcal {C}$$
C
with respect to the orbifold datum $$\mathcal {A}$$
A
.