bluuebunny/crossref_metadata_2025 huggingface dataset:
Gout‐associated uric acid crystals induce tophi ulcerations and impair wound healing in a novel gouty ulcer model
Authors: Bao Wu , Xue Yi , Cheng Xialin , Wang Peng , Yin Bin , Su Yingjun , Jia Chiyu
Published: October 2021

This study aimed to establish a novel gouty ulcer rat model induced by monosodium urate (MSU) deposition and preliminarily explored how MSU crystals affected wound healing. MSU crystals were subcutaneously injected into the back of rats to simulate tophi formation and ulceration. Ultrasound was used to detect the formation of gouty tophi. MSU crystal deposition and histopathological changes were analysed by haematoxylin–eosin staining. After the skin over the tophi became broken in the model group, a full‐thickness tissue defect of the same area was made on the backs of the phosphate buffered saline (PBS) controls. On Days 3, 7, and 14 after wounding, the infiltration of neutrophils and macrophages and the expression of inflammatory markers, including interleukin‐1β (IL‐1β), tumour necrosis factor‐α (TNF‐α), and Nod‐like receptor protein 3 (NLRP3), were examined by immunohistochemical staining and Western blotting, respectively. After the first subcutaneous injection in rats, local tissues showed redness and swelling, indicating inflammation on approximately Day 14. Tophi‐like manifestations appeared on approximately Day 18. Tophi appeared heterogeneously hyperechoic by ultrasound. Swelling and redness in injured tissue areas increased on approximately Day 22, skin tissue necrosis was seen in a small area on approximately Day 26, and skin necrosis was enlarged and the tophi were ulcerated on approximately Day 32, accompanied by yellowish‐white, chalky secretions. Haematoxylin and eosin staining showed dermal deposition of needle‐like crystals with surrounding granulomatous inflammation. On Days 3, 7, and 14 after wounding, immunohistochemical staining showed the infiltration of neutrophils and macrophages, and the expression of inflammation‐related proteins (IL‐1β, TNF‐α, and NLRP3) were upregulated in gouty ulcers compared with those of PBS controls. The gouty ulcers were not completely healed by Day 14 compared with those in the PBS controls. In this study, a novel gouty ulcer rat model was constructed, which also revealed the existence of persistent chronic inflammation.
Transformation of Political Communication Functions in the Regional Political Process (Evidence from the Tyumen Oblast)
Authors: Gerasimova Galina , Shvetsova Olga , Mehrishvili Lamara
Published: October 2021

The relevance of the policy areas reflected in this scientific article stems from the essential and peculiar fact that the entire international community increases interest in political communication because of its functionality and flexibility. The transformation of communication functions of a political nature considered within the constituent entities of the Russian Federation is vital for each of the spheres of State administration. It is the multifaceted nature of the topic that determines its importance in both academic and policy circles. A literate and intensive study of the development of political communication makes it possible to conclude the multifaceted influence of the historical era on the political structure of both the country as a whole and the subjects in particular. This aspect shows the diversity of communication functions in the State's political life and the likelihood of their lasting transformation. This article aims to give qualitative consideration to the various functions of political communication, using the example of the Tyumen region as an essential subject of the Russian Federation. The primary method of investigation of this problem was the analysis of scientific works of leading political scientists, philosophers and sociologists. Thanks to these works, the authors were able to trace the relationship between an era, type of the State, its social orientation and the development of political communication functions in terms of regional forms. The functions of political communication in the regional process of the Tyumen Oblast are directly dependent on institutional and functional groups and lobby associations, which are common in all regions. Knowing the dependency of functions on the well-defined aspects of political organization in an article helps to predict, or at least track, the likelihood of new functional diversity in political communication and steer it in the right direction.
A Study on the Performance of a Novel Hybrid Triboelectric-Dielectric Elastomer Generator Based on PDMS Composites
Authors: Zhao Xiaoyue , Ounaies Zoubeida , Rosset Samuel , Anderson Iain
Published: October 2021

Dielectric elastomer generators (DEGs) have been developed to harvest mechanical energy from various sources, such as human motion, water and wind. In particular, DEGs possess potential in wearable applications since they are light, flexible, and have high energy density. However, the requirement of an external circuit with high bias voltage that is used to polarize the dielectric elastomer limits their applications. On the other hand, triboelectric devices gained particular attention in the area of wearable electronics recently due to their good flexibility, portability and cost effectiveness. In addition, triboelectric devices can generate relatively high voltage, which could potentially polarize the dielectric elastomer in the DEG. In this study, a novel hybrid triboelectric-DEG structure is proposed to take advantage of the positive attributes of both. The triboelectric device part of the triboelectric-DEG, which is composed of a single-wall carbon nanotube (SWCNT)-ionic liquid (IL)-PDMS composite and a Teflon film, was fabricated and tested experimentally. The SWCNT-IL-PDMS composite is flexible and its electrical conductivity is high enough to transfer charges without an electrode, which makes the novel hybrid triboelectric-DEG a completely soft and independent energy harvester. The open-circuit voltage of the triboelectric device part reached to 114V, which is high enough to prime a DEG in a self-priming circuit configuration. Based on the experimental results of the triboelectric device part, the configuration and connection of the novel triboelectric-DEG were designed and the energy density was predicted. The resulting triboelectric-DEG can offset the shortcoming of conventional DEGs and greatly increase the feasibility of such device in wearable and mobile applications, to make polymer-based self-powered wearables a reality.
Investigation of Transformation Behaviour of Pseudoelastic NiTi Shape Memory Alloys Under Compressive Loading to Assess the Potential Use in Vibration Damping in Milling Operations
Authors: Brecher Christian , Neus Stephan , Klumpen Niclas , Dültgen Peter , Theiß Ralf , Krieg Romina , Hoffmann Fabian
Published: October 2021

Passive vibration isolation is a key element to achieve precise results in milling processes and to increase tool durability. Damping of vibrations near to the cutting edge is considered highly effective as well as hard to implement because of the limited damping properties of conventional materials in the available space. Particularly long projecting tools tend to be unstable with high vibration amplitudes due to their low material damping and high compliance. Problems may also occur in case the damping values are too low. Besides causing substandard goods, it also results in increased risk of tool fracture, which in turn increases production costs. Current approaches to solving these problems are vibration dampers or special damping tools. These systems are often complex, specially adapted and therefore cost-intensive.

NiTi based shape memory alloys (SMA) are known to be suitable damping materials for different applications, e.g. dampening of large circular saws or buildings. Their use depends on the capability to convert large amounts of mechanical energy into thermal energy based on the pseudoelastic effect. Especially the material’s pronounced transformation hysteresis results in an useable damping potential. In order to maximize the usable damping effect in machining tools, SMA-based damping elements have to be integrated into the force flow of different machine components in a preloaded compressive stress state.

The purpose of this paper is to demonstrate the stress-strain behavior of damping elements under the influence of various heat treatment parameters and high dynamic loading.

For this purpose, the Forschungsgemeinschaft Werkzeuge und Werkstoffe e.V. (FGW) carried out tests on various SMA specimens under approximately static compressive loads in order to determine fundamental parameters influencing the damping capacity. In particular, the influences on the transformation hysteresis were investigated.

Depending on the results, tests under high dynamic loads will be carried out by the Laboratory for Machine Tools and Production Engineering (WZL) at the RWTH Aachen University in order to be able to assess subsequent use within the machine tool. Therefore, the most promising pretreatment parameters from the preliminary tests were used to manufacture the specimen.

The paper presents the methodology, experiments and results of investigations to evaluate the possible use of pseudoelastic NiTi-based shape memory alloys in vibration damping in milling operations.
AI Supported Noise Analyses for Structure Design Requirements Definition
Authors: Domazetovska Simona , Gavriloski Viktor , Jovanova Jovana
Published: October 2021

The artificial intelligence (AI) field has encountered a turning point mainly due to advancements in machine learning, which allows systems to learn, improve, and perform a specific task through data without being explicitly programmed. Machine learning can be utilized with machining processes to improve product quality levels and productivity rates and to optimize design and process parameters. The systems for acoustic event detection and classification (AED/C) of noise events is a process consisted of feature extraction of the signals, meaning processing acoustic signals and converting them into symbolic descriptions that correspond to the various sound events present in the signals and their sources. The main objective of the AED/C systems is to develop algorithms able to recognize and classify sound events that occur in the chosen environment, giving an appropriate response to users.

By utilizing the acoustic events detection and classification systems, a clear set of design requirements can be extracted based on the noise to be attenuated. A smart structure design for noise attenuation needs clear noise input for proper smart material choice, placement and active control. This paper shows a method for detection of noise events based on machine-learning algorithm that can be further used for definition of design requirements.
A New Analytical Approach for Bistable Composites
Authors: Deshpande Vishrut , Myers Oliver , Fadel Georges , Li Suyi
Published: October 2021

Structures with adaptive capabilities offer many potentials to achieve future needs in efficiency, reliability, and intelligence. To this end, bistable CFRP (Carbon Fibre Reinforced Polymers) composites with asymmetric fiber layout are a promising concept that has shown shape morphing capabilities that adapt to the changes in the environment such as external forces and moments. This adaptability opens them to endless application potentials, ranging from small micro-switches to large airfoil sections in airplane wings or wind turbine blades. To harness this potential, it is essential to predict these composites’ physical shapes and behavior accurately. To this end, Hyer and Dano devised the first analytical model based on the concepts of Classical Lamination Theory, and this model has become the cornerstone of almost all subsequent studies. However, this theory uses Kirchoff’s theory of thin plates that are limited by several assumptions. As a result, Hyer’s theory can predict the overall shape of these laminates but lacks accuracy. A reason for this model’s underperformance is that it ignores the inter-laminar stresses and strains, but such stresses/strains play a vital role in the balance of the overall stress field and are found significantly higher near the free edges. To overcome these fundamental limitations, we propose a new analytical approach by combining the Reissner-Mindlin theory with concepts from the Classical Lamination Theory. This new model introduces in-plane rotations as two additional degrees of freedom. Thus, it has five independent variables compared to only three in Hyer and Dano’s model and its derivatives. Hence, we have a more complex but more accurate model. This paper outlines our new analytical approach by 1) introducing these two additional degrees of freedom; 2) selecting appropriate polynomial approximations; 3) formulating inter-laminar stresses that are functions of these added rotations; and 4) incorporating these inter-laminar stresses in the potential energy equation. By comparing this model’s prediction with the finite element simulation results, we found the new model slightly under predicts the laminate deformation, but the overall accuracy is promising, as evidenced by high R-squared correlation.
Design of a Lightweight Shape Memory Alloy Stroke-Amplification and Locking System in a Transradial Prosthetic Arm
Authors: Bishay Peter , Aguilar Christian , Amirbekyan Arshak , Vartanian Kevin , Arjon-Ramirez Martin , Pucio David
Published: October 2021

Shape memory alloy (SMA) wires have been used to actuate prosthetic arms and robotic grippers, among other interesting applications. This work presents a compact system that amplifies the stroke of SMA wire actuators in a prosthesis’ forearm and locks them after actuation to save energy. The proposed system, called the “Clever Lever & Locking” (CLL) system, is located in the forearm space close to the elbow. It includes an array of levers with built-in ratchets that are locked in place using two spring-supported pawls. Solenoids are used to release the levers when an unlocking signal is received. Then, the CLL system amplifies the finger restoring forces, and applies them as bias forces on the SMA actuators. The CLL system highly reduces the amount of SMA wires required to fully deform the fingers, thus enables reducing the overall size and weight of the prosthesis. The locking aspect of the system avoids supplying current to the SMA wires once the final finger deformation is reached, thus saves energy, and prevents the wires from staying at high temperature for a long time. The need to operate a cooling system during finger relaxation is also reduced. The CLL system was manufactured and tested to prove the efficiency and effectiveness of the proposed design.
Human Acceptance As Part of the Soft Robot Design
Authors: van Adrichem Romeo C. , Jovanova Jovana
Published: October 2021

As machines and robots become a increasingly larger part of society, it is important that they are fully accepted. If the machines are not utilized as intended, it is not only a waste of time and energy, but also of valuable resources. This acceptance by humans of robots is based on how well the interaction with robots is trusted. Trust of robots can be based on three approaches: physical safety, operational understanding, and the social aspect of training. It is important to also consider these aspects when designing machines that will interact with humans, since acceptance by the people is key for the correct utilization of the machines. A possible approach to solve the issues around trust are soft robots. These machines are adaptable to a situation by either a physical flexibility or a digital anticipation due to sensing and control. This adaptiveness to humans in different ways makes Soft Robotics easier to accept then regular rigid machines. With their reduced or prevented effect if collided with humans they are safer. Because of the reduced operational complexity and digital simulations they are therefore easier to understand. Training becomes also easier as operator can experience the flexible nature of soft material themselves as well have augmented reality or virtual reality to assist them in training and operating. All these benefits of Soft Robotics will eventually lead to better acceptance of robots and should therefore be taken into account when designing robots to enable a flourishing automatized society.
A Novel Flexible Bio-Inspired Pneumatic Valve Adapter for Soft Robotic Vasculature
Authors: Saunders Benjamin O. , Swensen John P.
Published: October 2021

This paper proposes a novel flexible pneumatic valve adapter that seeks inspiration from vascular systems found in nature. Evolved vascular systems, such as the human cardiovascular system, pump fluid through a complex system composed of a single reservoir/pump. These systems regulate flow by systematically closing and opening valves appropriately through soft biological material constriction. The proposed pneumatic valve emulates this with two concentric flexible tubes with a single hole on the inner tube and patterned holes on the outer tube. This allows it to decrease the quantity of tubes and valves required for pneumatically actuated soft robots, with the trade-off being increased motion of the valve spool (the inner tube). Previous versions of this adapter used rigid members which decreased the number of tubes tethering the robot to a pressure source, but also hindered the soft robotic nature and movement. This adapter utilizes flexible materials to minimize the valve’s effect on the robot’s range of motion. The tubes have holes that are patterned by custom design determined by the needs of the soft robot with which it is to be used. The inner tube can be moved rotationally or translationally within the outer tube to align with designated holes to pressurize and depressurize chambers in a soft robot with only a single lightweight valve.
Time Series Forecasting for Structures Subjected to Nonstationary Inputs
Authors: Chowdhury Puja , Conrad Philip , Bakos Jason D. , Downey Austin
Published: October 2021

In this paper, a method for real-time forecasting of the dynamics of structures experiencing nonstationary inputs is described. This is presented as time series predictions across different timescales. The target applications include hypersonic vehicles, space launch systems, real-time prognostics, and monitoring of high-rate and energetic systems. This work presents numerical analysis and experimental results for the real-time implementation of a Fast Fourier Transform (FFT)-based approach for time series forecasting. For this preliminary study, a testbench structure that consists of a cantilever beam subjected to nonstationary inputs is used to generate experimental data. First, the data is de-trended, then the time series data is transferred into the frequency domain, and measures for frequency, amplitude, and phase are obtained. Thereafter, select frequency components are collected, transformed back to the time domain, recombined, and then the trend in the data is restored. Finally, the recombined signals are propagated into the future to the selected prediction horizon. This preliminary time series forecasting work is done offline using pre-recorded experimental data, and the FFT-based approach is implemented in a rolling window configuration. Here learning windows of 0.1, 0.5, and 1 s are considered with different computation times simulated. Results demonstrate that the proposed FFT-based approach can maintain a constant prediction horizon at 1 s with sufficient accuracy for the considered system. The performance of the system is quantified using a variety of metrics. Computational speed and prediction accuracy as a function of training time and learning window lengths are examined in this work. The algorithm configuration with the shortest learning window (0.1 s) is shown to converge faster following the nonstationary when compared to algorithm configuration with longer learning windows.
Computational repurposing of therapeutic small molecules from cancer to pulmonary hypertension
Authors: Negi Vinny , Yang Jimin , Speyer Gil , Pulgarin Andres , Handen Adam , Zhao Jingsi , Tai Yi Yin , Tang Ying , Culley Miranda K. , Yu Qiujun , Forsythe Patricia , Gorelova Anastasia , Watson Annie M. , Al Aaraj Yassmin , Satoh Taijyu , Sharifi-Sanjani Maryam , Rajaratnam Arun , Sembrat John , Provencher Steeve , Yin Xianglin , Vargas Sara O. , Rojas Mauricio , Bonnet Sébastien , Torrino Stephanie , Wagner Bridget K. , Schreiber Stuart L. , Dai Mingji , Bertero Thomas , Al Ghouleh Imad , Kim Seungchan , Chan Stephen Y.
Published: October 2021

A network dependency platform was generated to define a landscape of cancer drug mechanisms in pulmonary hypertension.
Interferon β drives intestinal regeneration after radiation
Authors: Leibowitz Brian J. , Zhao Guangyi , Wei Liang , Ruan Hang , Epperly Michael , Chen Lujia , Lu Xinghua , Greenberger Joel S. , Zhang Lin , Yu Jian
Published: October 2021

Epithelial IFN-β couples radiation-induced intestinal stem cell injury with local inflammation and regeneration.
Genesis of a CO
2
-rich and H
2
O-depleted atmosphere from Earth’s early global magma ocean
Authors: Solomatova Natalia V. , Caracas Razvan
Published: October 2021

Under a thick atmosphere, carbon is rapidly vaporized from the magma ocean, while hydrogen remains dissolved in the silicate melt.
An ultrasound-driven immune-boosting molecular machine for systemic tumor suppression
Authors: Wang Liu , Li Guangzhe , Cao Lei , Dong Yi , Wang Yang , Wang Shisheng , Li Yueqing , Guo Xiuhan , Zhang Yi , Sun Fangfang , Du Xuemei , Su Jiangan , Li Qing , Peng Xiaojun , Shao Kun , Zhao Weijie
Published: October 2021

The “molecular machine” C34 could suppress tumor systemically via unimolecule-mediated sono/immunotherapy.
Drifting floats detect quakes to plumb Earth's deep interior
Authors: Stokstad Erik
Published: October 2021

Seismic sounds collected at sea help reveal mantle plumes.
Bacterial medium-chain 3-hydroxy fatty acid metabolites trigger immunity in
Arabidopsis
plants
Authors: Kutschera Alexander , Dawid Corinna , Gisch Nicolas , Schmid Christian , Raasch Lars , Gerster Tim , Schäffer Milena , Smakowska-Luzan Elwira , Belkhadir Youssef , Vlot A. Corina , Chandler Courtney E. , Schellenberger Romain , Schwudke Dominik , Ernst Robert K. , Dorey Stéphan , Hückelhoven Ralph , Hofmann Thomas , Ranf Stefanie
Published: October 2021

A fatty acid triggers immune responses

Plants and animals respond to the microbial communities around them, whether in antagonistic or mutualistic ways. Some of these interactions are mediated by lipopolysaccharide—a large, complex, and irregular molecule on the surface of most Gram-negative bacteria. Studying the small mustard plant
Arabidopsis
, Kutschera
et al.
identified a 3-hydroxydecanoyl chain as the structural element sensed by the plant's lectin receptor kinase. Indeed, synthetic 3-hydroxydecanoic acid alone was sufficient to produce a response. A small microbial metabolite may thus suffice to trigger immune responses.

Science
, this issue p.
178
Nanopore Hybrid Assembly of Biscogniauxia mediterranea Isolated from Quercus cerris Affected by Charcoal Disease in an Endangered Coastal Wood
Authors: Beccaccioli Marzia , Grottoli Alessandro , Scarnati Luca , Faino Luigi , Reverberi Massimo
Published: October 2021

Biscogniauxia mediterranea
is the causal agent of charcoal disease, affecting oak decline under the trigger of various biotic and abiotic factors, including climate change. Here, we report the genome assembly of an Italian
B. mediterranea
strain obtained using hybrid sequencing technologies combining long and short reads.
Draft Genome Sequences of Viridans Streptococci Causing Bacterial Endophthalmitis in Humans
Authors: Marquart Mary E. , Hellmann K. Taylor , Carr Mary A. , Lovell K. Michael , Robinson D. Ashley
Published: October 2021

The viridans streptococci are a group of bacteria that are commensals of the oral cavity and pharynx. These species tend to cause severe cases of bacterial endophthalmitis with poor prognoses but remain largely uncharacterized in this context. Here, we report the whole-genome sequences of 21 strains of viridans streptococci isolated from endophthalmitis in humans.
Supplemental Material: First structural observation around the hinge of the Mongolian Orocline (Central Asia): Implications for the geodynamics of oroclinal bending and the evolution of the Mongol-Okhotsk Ocean
Authors: Li Pengfei , al. et
Published: October 2021

Table S1: 40Ar/39Ar step heating data.
Full descriptions of the analytical and modelling procedures together with tables and figures that report and illustrate the data details and the modelling inputs.
Authors: Fellin Maria Giuditta , al. et
Published: October 2021

Full descriptions of the analytical and modelling procedures together with tables and figures that report and illustrate the data details and the modelling inputs.
Access to fludrocortisone and to hydrocortisone in children with congenital adrenal hyperplasia in the WHO Eastern Mediterranean Region: it takes a village…
Authors: Rowlands Amanda , Deeb Asma , Ladjouze Asmahane , Hamza Rasha T , Musa Salwa A , Raza Jamal , Jennane Farida , Abu-Libdeh Abdulsalam , Chanoine Jean-Pierre
Published: October 2021

Congenital adrenal hyperplasia (CAH), if untreated, carries high morbidity and mortality. A higher incidence of CAH is expected in countries where consanguinity is common, such as in the countries of the WHO Eastern Mediterranean Region (EMRO). CAH is managed through lifelong treatment with fludrocortisone and hydrocortisone. In this analysis, performed in the 22 EMRO countries and territories plus Algeria, we review which countries offer a neonatal screening programme for CAH and describe the barriers and opportunities to access oral fludrocortisone and oral and injectable hydrocortisone. Neonatal CAH screening was only available nationally in Qatar, Kuwait and partially in Lebanon and Saudi Arabia. We reviewed the national lists of essential medicines (NEMLs) and found that 13/23 (57%) countries included fludrocortisone and 18/23 (78%) included oral hydrocortisone. Fludrocortisone was not included by any of the low-income countries and oral hydrocortisone was only included by one low-income country. We then contacted paediatric endocrinologists in each country to assess perceived availability of these medicines. Overall, there was a relatively good consistency between inclusion of fludrocortisone and hydrocortisone in the NEML and their actual availability in a country. We propose several mechanisms to improve access, including prequalification by the WHO, a common registration process for groups of countries, pooled procurement, working with local pharmaceutical companies, special access status for medicines not yet registered in a country and compounding. We suggest that access to medicines requires a collaboration between health professionals, families of patients, health authorities, pharmaceutical companies and the WHO.
Nationwide evaluation of mutation-tailored anti-EGFR therapy selection in patients with colorectal cancer in daily clinical practice
Authors: Steeghs Elisabeth M P , Vink Geraldine R , Elferink Marloes A G , Voorham Quirinus J M , Gelderblom Hans , Nagtegaal Iris D ,   PATH Consortium Members, Grünberg Katrien , Ligtenberg Marjolijn J L
Published: October 2021

For a nationwide real-word data study on the application of predictive mutation testing of patients with colorectal cancer (CRC) for anti-epidermal growth factor receptor (EGFR) therapy stratification, pathology data were collected from the Dutch Pathology Registry from October 2017 until June 2019 (N=4060) and linked with the Netherlands Cancer Registry. Mutation testing rates increased from 24% at diagnosis of stage IV disease to 60% after 20–23 months of follow-up (p<0.001). Application of anti-EGFR therapy inKRAS/NRASwild-type patients was mainly observed from the third treatment line onwards (65% vs 17% in first/second treatment line (p<0.001)). The national averageKRAS/NRAS/BRAFmutation rate was 63.9%, being similar for next-generation sequencing (NGS)-based approaches and single gene tests (64.4% vs 61.2%, p=ns). NGS-based approaches detected more additional potential biomarkers, for example,ERBB2amplifications (p<0.05). Therefore, single gene tests are suitable to stratify patients with mCRC for anti-EGFR therapy, but NGS is superior enabling upfront identification of therapy resistance or facilitate enrolment into clinical trials.
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum
Authors: Serpieri Valentina , D’Abrusco Fulvio , Dempsey Jennifer C , Cheng Yong-Han Hank , Arrigoni Filippo , Baker Janice , Battini Roberta , Bertini Enrico Silvio , Borgatti Renato , Christman Angela K , Curry Cynthia , D'Arrigo Stefano , Fluss Joel , Freilinger Michael , Gana Simone , Ishak Gisele E , Leuzzi Vincenzo , Loucks Hailey , Manti Filippo , Mendelsohn Nancy , Merlini Laura , Miller Caitlin V , Muhammad Ansar , Nuovo Sara , Romaniello Romina , Schmidt Wolfgang , Signorini Sabrina , Siliquini Sabrina , Szczałuba Krzysztof , Vasco Gessica , Wilson Meredith , Zanni Ginevra , Boltshauser Eugen , Doherty Dan , Valente Enza Maria
Published: October 2021

Background

Joubert syndrome (JS) is a recessively inherited ciliopathy characterised by congenital ocular motor apraxia (COMA), developmental delay (DD), intellectual disability, ataxia, multiorgan involvement, and a unique cerebellar and brainstem malformation. Over 40 JS-associated genes are known with a diagnostic yield of 60%–75%.

In 2018, we reported homozygous hypomorphic missense variants of the SUFU gene in two families with mild JS. Recently, heterozygous truncating SUFU variants were identified in families with dominantly inherited COMA, occasionally associated with mild DD and subtle cerebellar anomalies.

Methods

We reanalysed next generation sequencing (NGS) data in two cohorts comprising 1097 probands referred for genetic testing of JS genes.

Results

Heterozygous truncating and splice-site SUFU variants were detected in 22 patients from 17 families (1.5%) with strong male prevalence (86%), and in 8 asymptomatic parents. Patients presented with COMA, hypotonia, ataxia and mild DD, and only a third manifested intellectual disability of variable severity. Brain MRI showed consistent findings characterised by vermis hypoplasia, superior cerebellar dysplasia and subtle-to-mild abnormalities of the superior cerebellar peduncles. The same pattern was observed in two out of three tested asymptomatic parents.

Conclusion

Heterozygous truncating or splice-site SUFU variants cause a novel neurodevelopmental syndrome encompassing COMA and mild JS, which likely represent overlapping entities. Variants can arise de novo or be inherited from a healthy parent, representing the first cause of JS with dominant inheritance and reduced penetrance. Awareness of this condition will increase the diagnostic yield of JS genetic testing, and allow appropriate counselling about prognosis, medical monitoring and recurrence risk.
Non Odontogenic Soft Tissue Cysts of the Oral Cavity
Authors: Hall T. J. C.
Published: October 2021

The aetiology and clinical features of five types of non odontogenic soft tissue cyst of the oral cavity are described and case reports presented.
A Lode of Backs
Authors: Jones P.
Published: October 2021

Five cases, with back pain as a common factor, are briefly discussed to illustrate the importance of taking a thorough history in establishing a correct diagnosis in patients who could otherwise fall into a symptomatically-labelled group. The relatively uncommon and varied nature of the cases is illustrative of the challenge facing the sea-going medical officer.
Skin Disinfection in the Hyperbaric Environment: A Pilot Study
Authors: Goad R. F. , Page B. , Nichols G. , Lightfoot N. F.
Published: October 2021

An opportunity was taken to carry out a pilot study on human skin disinfection during a recent long term saturation dive at extremely high pressure. Despite a number of difficulties, results were sufficiently encouraging to suggest that, given ideal conditions, sterilisation of the skin in preparation for surgical/anaesthetic procedures in a hyperbaric environment is possible.
The stability of the knee joint
Authors: Farquharson-Roberts M. A. , Osborne A. H. , Telfer R. C.
Published: October 2021

Knee joint anatomy and movements are discussed in the light of recent concepts of knee joint instability. Both conservative and surgical treatment are discussed.
An interim report on highly selective vagotomy in the Royal Navy: early return to duty
Authors: Dewar E. P.
Published: October 2021

Highly selective vagotomy (HSV) is the newest of the surgical treatments for peptic ulcer disease. The effectiveness of HSV in comparison with the more traditional operations and the research carried out to demonstrate this are discussed.

The four year period during which HSV became the elective surgical treatment for duodenal ulcer at the Royal Naval Hospital, Haslar, has been analysed and reveals that HSV results in a considerable reduction in the time before a Serviceman is fit to return to full duty in medical category P2.
Volvulus neonatorum in the ninth decade
Authors: Barker P.
Published: October 2021

Intestinal obstruction as a result of malrotation of the midgut is uncommon in adults. Less than a dozen similar cases have been documented in the English literature in the last ten years. Clinical characteristics of the condition are mentioned and management briefly discussed.
Results of recent research on life-jackets
Authors: Herrmann R. , Störmer A.
Published: October 2021

International regulations governing the specifications for life-jackets deal in general with materials, buoyancy, flotation and minimum mouth to water distances. Within these general guidelines, manufacturers are free to adopt design styles of their choice.

This paper reports the results of an evaluation of a variety of life-jackets when used in conjunction with a specialized anthropometric dummy in a wave height of 80 cms. The results show that the mouths of the wearers of many of these life-jackets—which satisfy the accepted design criteria—will be flooded periodically, leading to drowning.
Excessive Lateral Pressure as a Cause of Patello-Femoral Pain syndrome
Authors: Osborne A. H. , Farquharson-Roberts M. A.
Published: October 2021

The purpose of this paper is to show that a significant number of patients presenting with patello-femoral pain have excessive lateral pressure (ELP) which can be diagnosed using clinical, radiographic and arthroscopic examinations.

The aetiology of ELP as a cause of patello-femoral pain is discussed. A series of 93 patients are presented, many of whom showed some of the four suggested signs of ELP. The investigations and findings are shown in relation to the varying aetiologies of patello-femoral pain.
Pes anserinus transfer for antero-medial instability of the knee
Authors: Walker A. , Osborne A. H.
Published: October 2021

Thirty patients are assessed who underwent pes anserinus transfer for antero-medial instability of the knee. Twenty one of these returned to a normal seagoing category after a mean period of 5 months 1 week. The value of pes anserinus transfer in the treatment of antero-medial instability is discussed.
Anthropometry in the Royal Navy
Authors: Reeves Maureen L.
Published: October 2021

The increase in technology has resulted in greater demands being placed on machine operators. In order to promote greater efficiency and economy it is important to ensure the user and the equipment are well matched. Staff at the Institute of Naval Medicine are beginning a major anthropometric survey of Royal Navy personnel. This article introduces the reader to some relevant concepts of anthropometry and to the methods to be adopted during the survey.
An anaesthetic technique employing the Accutronic VS-150 High Frequency Jet Ventilator
Authors: Squires S. J.
Published: October 2021

An anaesthetic technique is described for microlaryngeal surgery which employs high frequency jet ventilation via a narrow-bore nasotracheal catheter. In a series of 18 patients the method was assessed for ease of administration, maintenance of arterial bloodgases and adequacy of the surgical field.

The technique was found to be simple to administer, providing good conditions for operative microscopy. Arterial blood-gas analysis showed excellent oxygenation and significant improvement in hypercapnia resulting from deep inhalational induction (p<0.05), but pre-induction carbon dioxide levels were not achieved.

Intraoperative monitoring revealed no serious cardiovascular problems and postoperative recovery was without serious complications, however, it is recommended that the technique is unsuitable for patients in whom mild hypercapnia for up to 20 minutes is undesirable.
Bronchogenic and enteric cysts presenting as asymptomatic mediastinal masses at routine chest radiography
Authors: Hogg J. I. C.
Published: October 2021

Routine radiographic chest screening—as employed upon entry and release from the Royal Navy—is intended to identify pathology which may be clinically covert. Occasionally, asymptomatic lesions of wholly benign appearance are identified. In these circumstances, clinicians may feel obliged to undertake a series of increasingly complex investigations, even exploratory surgery, in order to confirm the diagnosis. This course of events may also follow chest radiographs taken for unrelated reasons—eg exclusion of skeletal injury following trauma.

Mediastinal cysts (eg Bronchogenic and Enteric) may present as asymptomatic mediastinal masses with benign features. Two such cases are reported in which a prominent mediastinal mass was revealed at routine or post trauma chest radiography and a brief review of bronchogenic and enteric cysts is presented.
Vagotomy confined to the acid-secreting mucosa of the stomach
Authors: Dewar E. P. , Williams N. S. , Dixon M. F. , Johnston D.
Published: October 2021

Chemoneurolysis, using varying concentrations of ethyl alcohol, was performed in dogs with a total gastric fistula in an attempt to denervate selectively only the acid-secreting mucosa, leaving the muscle innervated. Tests of gastric secretion and histological examination of gastric wall biopsies were performed both before and after chemoneurolysis. Chemoneurolysis resulted in a significant reduction in the number of parasympathetic fibres in the submucosa (p<0.01) and a decrease in insulin and pentagastrin stimulated acid secretion. The appearances of the myenteric plexus and gastric musculature were unchanged. The destruction of the submucosal neural tissue was, however, insufficient to produce a therapeutically significant decrease in gastric acid output.
Do We Survive with Survival Suits?
Authors: Herrmann R.
Published: October 2021

The availability of immersion suits on board merchant ships is recommended in 1983 Amendments to the international convention for the safety of life at sea, 1974 (IMO). Suits approved by the Federal German Republic were tested in a wave tank using an immersible dummy. Extra buoyancy in the head region was required to correct the horizontal floating position. Buoyancy from a life-jacket was preferred to other sources. At 1 m wave height, flooding time of the face varied from 0.3% for one suit to 100% for another. Suits lined with non-absorbent material gave the best results.
A Nutritional Analysis of Food provided to Royal Naval Personnel at Sea
Authors: Alexander D. C. C. , Doyle Wendy
Published: October 2021

The aim of this study was to determine the nutritional content of the foods provided to, and the confectionery purchased by, personnel serving at sea in British warships. Data were collected from the stores accounts of six ships over a period of 32,354 man victualling days. Analysis was carried out at the Nuffield Laboratories of Comparative Medicine. The food from the ships galleys provided mean daily intakes of 3,750 Kcals, of which 42% were derived from fats (17% from saturated fats) and 9% from added sugars. In taking account of confectionery purchased from NAAFI sources the total energy intake was raised to 4,200 Kcals of which 40% were derived from fats (15% saturated fats) and 12% from added sugars. The results do not compare favourably with the recommendations of the reports of expert committees.
An Audiological Survey of Aircrew
Authors: Jones D. G.
Published: October 2021

A cross sectional survey of Royal Naval aircrew was performed to measure the prevalence of noise-induced hearing loss and assess its relationship to flying experience. The quality of routine audiometry undertaken at annual aircrew medical examinations was assessed and the requirement for further hearing conservation measures amongst Fleet Air Arm personnel considered.

Analysis of the results indicated that 3.8% of aircrew had possible noise induced hearing loss, in 1.6% this was probably due to flying and none of these cases had less than 2,000 hours flying experience.

Further surveys should concentrate on experienced aviators and on aircraft maintainers and handlers.

As noise-induced hearing loss does not appear to be affecting aircrew with less than 10 years flying experience there is a potential saving in time and expense by ceasing to do routine audiometry on this group.
Ten strategies for avoiding and overcoming authorship conflicts in academic publishing
Authors: Cooke S.J. , Young N. , Donaldson M.R. , Nyboer E.A. , Roche D.G. , Madliger C.L. , Lennox R.J. , Chapman J.M. , Faulkes Z. , Bennett J.R.
Published: October 2021

For better or for worse, authorship is a currency in scholarly research and advancement. In scholarly writing, authorship is widely acknowledged as a means of conferring credit but is also tied to concepts such as responsibility and accountability. Authorship is one of the most divisive topics both at the level of the research team and more broadly in the academy and beyond. At present, authorship is often the primary way to assert and receive credit in many scholarly pursuits and domains. Debates rage, publicly but mostly privately, regarding authorship. Here we attempt to clarify key concepts related to authorship informed by our collective experiences and anchored in relevant contemporary literature. Rather than dwelling on the problems, we focus on proactive strategies for creating more just, equitable, and transparent avenues for minimizing conflict around authorship and where there is adequate recognition of the entire process of knowledge generation, synthesis, sharing, and application with partners within and beyond the academy. We frame our ideas around 10 strategies that collectively constitute a roadmap for avoiding and overcoming challenges associated with authorship decisions.
Warm constant-roll inflation in brane-world cosmology
Authors: Setare M. R. , Ravanpak A. , Bahari K. , Fadakar G. F.
Published: October 2021

In this paper, we study a constant-roll inflationary model in the context of brane-world cosmology caused by a quintessence scalar field for warm inflation with a constant dissipative parameter [Formula: see text]. We determine the analytical solution for the Friedmann equation coupled to the equation of motion of the scalar field. The evolution of the primordial scalar and tensor perturbations is also studied using the modified Langevin equation. To check the viability of the model, we use numerical approaches and plot some figures. Our results for the scalar spectral index and the tensor-to-scalar ratio show good consistency with observations.
Igneous and sedimentary ‘limestones’: the puzzling challenge of a converging classification
Authors: Stoppa Francesco , Cirilli Simonetta , Sorci Andrea , Broom-Fendley Sam , Principe Claudia , Perna Maria Grazia , Rosatelli Gianluigi
Published: October 2021

The vast majority of extrusive carbonatites are calcitic rocks which may be confused with sedimentary limestones, thus requiring a disambiguation criterion. Extrusive carbonatites are classified based on quantitative criteria that tend to avoid genetic mechanisms. Carbonatite nomenclature is in progress but regulated by the International Union of Geological Sciences norm for igneous rocks. Carbonate sedimentary rock nomenclature is mainly regulated by the Dunham, Embry and Klovan, and Sibley and Gregg classification systems. These limit the description of rock types from various depositional mechanisms and makes comparison with sedimentary rocks difficult. Igneous and sedimentary carbonate rocks display no apparent differences in the field and at meso–micro-scale. They may be layered, massive crystalline or show discrete clasts in a matrix, which make both rock types resemble one another. The study analyses the situations in which classification inconsistencies are most common. Adopting these guidelines may increase confidence, reliability and value in the petrographic classification of igneous and sedimentary lithologies. This study poses a challenging target. Can igneous carbonate rocks be classified using the same approach that is used for sedimentary carbonate rocks and vice versa? So far, the scheme chosen has been arbitrary or limited to the aim of the study being undertaken. The authors start an unexperienced dialogue for the first time between volcanologists and sedimentologists by examining a range of sedimentary and volcaniclastic rock textures which may resemble each other.
Peirce and Archaeology: Recent Approaches
Authors: Baron Joanne P.
Published: October 2021

The philosophy of Charles S. Peirce, and in particular his theory of signs (semiotic), has seen increasing interest within archaeological theory over the past 20 years. This article reviews Peirce's most influential ideas within archaeology, directs readers to where in Peirce's voluminous works they can find these ideas, and discusses how each of them has been applied by archaeologists to a variety of different research topics. In addition to the semiotic, these ideas include Peirce's metaphysical doctrine of synechism; his methodological pragmatism; abductive logic; and the phenomenological concepts of firstness, secondness, and thirdness. Finally, I discuss two research areas—materiality and paleolithic archaeology—in which a combination of Peirce's ideas has led to important new insights.
Archaeoprimatology: TheLongue DuréeInterface Between Humans and Nonhuman Primates
Authors: Urbani Bernardo
Published: October 2021

Archaeoprimatology explores how humans and nonhuman primates coexisted in the past. This discipline has profound roots in texts of early scholars. Archaeoprimatological research examines the liminality between humans, apes, monkeys, and prosimians deep in time before the rise of the Anthropocene. By exploring the beginning of the relationship between modern Homo sapiens and primates, which possibly dates to approximately 100,000 BCE, I survey the evidence, ranging from portable objects and 2D surfaces with primatomorphic depictions to primate remains at archaeological sites worldwide. For example, an overview of ancient frescoes and mosaics with primate representations reveals that the vast majority of them were rendered in locations where primates were not part of the local fauna. An extensive review of primates in the zooarchaeological record shows as a global pattern that traded primates were usually young individuals and frugivorous/omnivorous species. Local primates yielded at sites of regions they naturally inhabited were mostly hunted. Thus, examining past patterns of the human–nonhuman primate interface provides insight into major questions about human niche construction and primate conservation today.