bluuebunny/crossref_metadata_2025 huggingface dataset:
Environmental Heterogeneity Affecting Community Assembly Patterns and Phylogenetic Diversity of Three Forest Communities at Mt. Huangshan, China
Authors: Lv Ting , Wang Ningjie , Xie Lei , Chen Shuifei , Zhao Rong , Feng Yueyao , Li Yao , Ding Hui , Fang Yanming
Published: January 2022

Studying community assembly has always been a central issue in ecological research and is necessary for understanding mechanisms of species coexistence and biodiversity. Environmental heterogeneity is a driver of biodiversity, but much remains to be learned about how evolutionary processes are affected by environmental factors. We aimed to clarify the evolutionary processes in different vegetation communities in the Huangshan Scenic Area, Anhui Province, China. We constructed a phylogenetic tree of these communities based on a constraint tree and three DNA barcode regions. Community I was characterized by a weakly overdispersed phylogenetic structure for all three plant groups. The structure of Community II showed clustered for total plants and shrubs, overdispersed for trees. However, the phylogenetic structure was clustered for total plants, overdispersed for trees and shrubs in Community III. The main drivers of these patterns were spatial and climatic factors. Phylogenetic α-diversity had a significant positive relationship with species richness. The values of phylogenetic β-diversity reached their maximum at intermediate elevations among three vegetation communities for total plants. The main factors that affected diversity patterns were spatial variables, not climatic factors, indicating that environmental heterogeneity determined the mechanisms of biodiversity and species coexistence in the community. Our results showed that deterministic processes may control community assembly in three different vegetation regions.
Kocuria Strains from Unique Radon Spring Water from Jachymov Spa
Authors: Timkina Elizaveta , Drábová Lucie , Palyzová Andrea , Řezanka Tomáš , Maťátková Olga , Kolouchová Irena
Published: January 2022

Members of the genus Kocuria are often found in soils contaminated with toxic metals or exposed to high levels of ionizing radiation. The use of classical cultivation technics often leads to the isolation of Kocuria sp. from underground spring waters. These bacterial isolates have to adapt their metabolism to survive in such extreme environments. Four bacterial isolates of the genus Kocuria (Kocuria sp. 101, 208, 301, and 401) were obtained from radon spring water (Jachymov, Czech Republic). These isolates were tested for their ability to withstand stress and extreme conditions. Growth was observed at a temperature range of 10–45 °C with optimal growth temperature between 20 and 30 °C. The content of polyunsaturated fatty acids in all four isolates was proved to be temperature-dependent. The strain Kocuria sp. 301 showed high resistance to all studied extreme conditions (UV radiation, desiccation, and free radicals in medium). The results suggest that isolates from radioactive springs might have developed mechanisms that help them survive under several extreme conditions and could be used in biotechnological production.
Enhancing Reactive Ad Hoc Routing Protocols with Trust
Authors: Trofimova Yelena , Tvrdík Pavel
Published: January 2022

In wireless ad hoc networks, security and communication challenges are frequently addressed by deploying a trust mechanism. A number of approaches for evaluating trust of ad hoc network nodes have been proposed, including the one that uses neural networks. We proposed to use packet delivery ratios as input to the neural network. In this article, we present a new method, called TARA (Trust-Aware Reactive Ad Hoc routing), to incorporate node trusts into reactive ad hoc routing protocols. The novelty of the TARA method is that it does not require changes to the routing protocol itself. Instead, it influences the routing choice from outside by delaying the route request messages of untrusted nodes. The performance of the method was evaluated on the use case of sensor nodes sending data to a sink node. The experiments showed that the method improves the packet delivery ratio in the network by about 70%. Performance analysis of the TARA method provided recommendations for its application in a particular ad hoc network.
Otolith Microchemistry and Demographic History Provide New Insight into the Migratory Behavior and Heterogeneous Genetic Divergence of Coilia grayii in the Pearl River
Authors: Wang Gongpei , Tang Qindong , Chen Zhi , Guo Dingli , Zhou Lei , Lai Han , Li Guifeng
Published: January 2022

Coilia grayii is the anadromous form of anchovy that is distributed in the East and South China Seas. It is a common fish species in the estuarine area of the Pearl River. Nevertheless, freshwater populations appear upstream in the Pearl River, but the migratory pathway has been mostly impeded by dam construction. Behavioral differences and constrained habitat within tributaries are suspected of promoting genetic divergence in these populations. In this study, we investigated the migratory behavior and genetic divergence of six populations of C. grayii fragmented by dams based on the otolith strontium/calcium (Sr/Ca) ratio, mitochondrial DNA, and microsatellite genotyping. All populations were in freshwater with low Sr/Ca ratios, except the estuarine population (Humen population) hatched in brackish water. Reduced nucleotide diversity corresponding to distance was observed. Populations from distant hydrological regions exhibited a decline in genetic diversity and a significant difference with the remaining populations after fitting the isolation by distance model. Pairwise fixation indices confirmed these results and moderate and significant differentiation was found between Hengxian site and downstream sites. Furthermore, STRUCTURE analyses revealed that all separated populations exhibited an admixed phylogenetic pattern except for individuals from the Hengxian locality. The upstream sites showed significantly increased resistance to gene flow from the estuarine population because of isolation by the dam. The results of the neutrality test and Bayesian skyline plots demonstrated complex demography—individuals’ experienced historical expansion and partial upper-dam populations had recently undergone a colonization, forming a new genetic structure. Accordingly, this study demonstrates differences in the migration pattern and genetic differentiation of C. grayii as a consequence of demographic history and current processes (habitat fragmentation and colonization).
Sonic Eddy Model of the Turbulent Boundary Layer
Authors: Dintilhac Paul , Breidenthal Robert
Published: January 2022

The effects of Mach number on the skin friction and velocity fluctuations of the turbulent boundary layer are considered through a sonic eddy model. Originally proposed for free shear flows, the model assumes that the eddies responsible for momentum transfer have a rotation Mach number of unity, with the entrainment rate limited by acoustic signaling. Under this assumption, the model predicts that the skin friction coefficient should go as the inverse Mach number in a regime where the Mach number is larger than unity but smaller than the square root of the Reynolds number. The velocity fluctuations normalized by the friction velocity should be the inverse square root of the Mach number in the same regime. Turbulent transport is controlled by acoustic signaling. The density field adjusts itself such that the Reynolds stresses correspond to the momentum transport. In contrast, the conventional van Driest–Morkovin view is that the Mach number effects are due to density variations directly. A new experiment or simulation is proposed to test this model using different gases in an incompressible boundary layer, following the example of Brown and Roshko in the free shear layer.
Experimental Correlation for Splashing Condition of Droplets on Solid Substrates
Authors: Yonemoto Yukihiro , Tashiro Kanta , Yamashita Minori , Kunugi Tomoaki
Published: January 2022

Droplet splashing behaviors of water-ethanol binary mixture liquids on roughened solid surfaces were experimentally observed in order to investigate the effects of surface tension, viscosity, and wettability/surface roughness on the splashing occurrence. The range of the droplet volumes was from 1.7 μL to 32.6 μL. The ranges of the surface tension and the viscosity were from 21.1 mN/m to 71.9 mN/m, and from 1 mPas to 2.91 mPas, respectively. The surface roughness range was from 0.03 μm to 1.25 μm for Ra. The present experimental data were evaluated on the basis of the existing models. Resulting from these experiments, a simple model using the Ohnesorge number evaluated by the capillary length was proposed and the accuracy of the predicted critical values such as the critical Weber and Reynolds numbers were discussed. The result indicated that the liquid properties and the quantification of the surface condition such as surface roughness are important factors for the prediction of the splashing behavior.
A Deep Learning Approach for Wave Forecasting Based on a Spatially Correlated Wind Feature, with a Case Study in the Java Sea, Indonesia
Authors: Adytia Didit , Saepudin Deni , Pudjaprasetya Sri Redjeki , Husrin Semeidi , Sopaheluwakan Ardhasena
Published: January 2022

For safety and survival at sea and on the shore, wave predictions are essential for marine-related activities, such as harbor operations, naval navigation, and other coastal and offshore activities. In general, wave height predictions rely heavily on numerical simulations. The computational cost of such a simulation can be very high (and it can be time-consuming), especially when considering a complex coastal area, since these simulations require high-resolution grids. This study utilized a deep learning technique called bidirectional long short-term memory (BiLSTM) for wave forecasting to save computing time and to produce accurate predictions. The deep learning method was trained using wave data obtained by a continuous numerical wave simulation using the SWAN wave model over a 20-year period with ECMWF ERA-5 wind data. We utilized highly spatially correlated wind as input for the deep learning method to select the best feature for wave forecasting. We chose an area with a complex geometry as the study case, an area in Indonesia’s Java Sea. We also compared the results of wave prediction using BiLSTM with those of other methods, i.e., LSTM, support vector regression (SVR), and a generalized regression neural network (GRNN). The forecasting results using the BiLSTM were the best, with a correlation coefficient of 0.96 and an RMSE value of 0.06.
Experimental and Computational Studies of Peristaltic Flow in a Duodenal Model
Authors: Palmada Nadun , Cater John E. , Cheng Leo K. , Suresh Vinod
Published: January 2022

We study peristaltic flow in a C-shaped compliant tube representing the first section of the small intestine—the duodenum. A benchtop model comprising of a silicone tube filled with a glycerol-water mixture deformed by a rotating roller was created. Particle image velocimetry (PIV) was used to image flow patterns for deformations approximating conditions in the duodenum (contraction amplitude of 34% and wave speed 13 mm/s). Reversed flow was present underneath the roller with fluid moving opposite to the direction of the peristaltic wave propagation. Deformations of the tube were imaged and used to construct a computational fluid dynamics (CFD) model of flow with moving boundaries. The PIV and CFD vorticity and velocity fields were qualitatively similar. The vorticity field was integrated over the imaging region to compute the total circulation and there was on average a 22% difference in the total circulation between the experimental and numerical results. Higher shear rates were observed with water compared to the higher viscosity fluids. This model is a useful tool to study the effect of digesta properties, anatomical variations, and peristaltic contraction patterns on mixing and transport in the duodenum in health and disease.
Quality of Protein Isolates and Hydrolysates from Baltic Herring (Clupea harengus membras) and Roach (Rutilus rutilus) Produced by pH-Shift Processes and Enzymatic Hydrolysis
Authors: Kakko Tanja , Damerau Annelie , Nisov Anni , Puganen Anna , Tuomasjukka Saska , Honkapää Kaisu , Tarvainen Marko , Yang Baoru
Published: January 2022

Fractionation is a potential way to valorize under-utilized fishes, but the quality of the resulting fractions is crucial in terms of their applicability. The aim of this work was to study the quality of protein isolates and hydrolysates extracted from roach (Rutilus rutilus) and Baltic herring (Clupea harengus membras) using either pH shift or enzymatic hydrolysis. The amino acid composition of protein isolates and hydrolysates mostly complied with the nutritional requirements for adults, but protein isolates produced using pH shift showed higher essential to non-essential amino acid ratios compared with enzymatically produced hydrolysates, 0.84–0.85 vs. 0.65–0.70, respectively. Enzymatically produced protein hydrolysates had a lower total lipid content, lower proportion of phospholipids, and exhibited lower degrees of protein and lipid oxidation compared with pH-shift-produced isolates. These findings suggest enzymatic hydrolysis to be more promising from a lipid oxidation perspective while the pH-shift method ranked higher from a nutrient perspective. However, due to the different applications of protein isolates and hydrolysates produced using pH shift or enzymatic hydrolysis, respectively, the further optimization of both studied methods is recommended.
Isolation of Laurus nobilis Leaf Polyphenols: A Review on Current Techniques and Future Perspectives
Authors: Dobroslavić Erika , Repajić Maja , Dragović-Uzelac Verica , Elez Garofulić Ivona
Published: January 2022

In recent years, the market demand for products enhanced with ingredients derived from natural products, such as polyphenols, is rapidly increasing. Laurus nobilis L., known as bay, sweet bay, bay laurel, Roman laurel or daphne is an evergreen Mediterranean shrub whose leaves have traditionally been used in cuisines and folk medicine due to their beneficial health effects, which can nowadays be scientifically explained by various biological activities of the leaf extracts. Many of these activities can be attributed to phenolic compounds present in L. nobilis leaves which include flavonoids, phenolic acids, tannins (proanthocyanidins) and lignans. In order to enable efficient industrial utilization of these valuable compounds, it is crucial to establish optimal extraction procedures resulting in the highest yields and quality of the extracts. This paper offers the first systematic review of current literature on the influence of conventional and advanced extraction techniques, including microwave-assisted, ultrasound-assisted, enzyme-assisted, supercritical-CO2 and mechanochemical-assisted extraction on the phenolic content of L. nobilis leaf extracts, allowing more efficient planning of further research and simplifying the steps towards industrial utilization of this plant.
Antioxidant Activity and Sensory Quality of Bacon
Authors: Zhou Bing , Luo Jie , Quan Wei , Lou Aihua , Shen Qingwu
Published: January 2022

Effects of liquid smoke prepared from different woods on physicochemical parameters, sensory quality, and protein and lipid oxidation were determined in bacons during process and storage. The relationship between the antioxidant activity of smoked liquid and the quality of bacon was further explored through chemometric analysis. Results showed that liquid smoke prepared from different woods differed in phenolic and carboxyl compounds and antioxidant capacity. Bacon processed with different liquid smoke had different antioxidant capacity, lipid and protein oxidation during storage, and sensory quality. The concentration of phenols was positively highly correlated with the antioxidant capacity of both liquid smoke and fresh bacon, but negatively correlated with lipid and protein oxidation in bacon. Among the five woods, liquid smoke made from Punica granatum L. showed higher antioxidant capacity, but bacon smoked with Armeniaca vulgaris Lam had better overall eating quality. This study reveals that selection of woods to prepare antioxidant fumigant is a feasible approach to retard oxidative spoilage of meat products. Future study is need for the development of composite smoke flavorings to improve both oxidative stability and sensory quality of foods.
Propyl Gallate Treatment Improves the Postharvest Quality of Winter Jujube (Zizyphus jujuba Mill. cv. Dongzao) by Regulating Antioxidant Metabolism and Maintaining the Structure of Peel
Authors: Wang Chao , Chen Cunkun , Zhao Xiaoyang , Wu Caie , Kou Xiaohong , Xue Zhaohui
Published: January 2022

The quality and color of winter jujube fruits are easy to change after harvest. We studied the regulation mechanism of propyl gallate (PG) on post-harvest physiological quality of winter jujube, from the perspective of antioxidant metabolism and peel structure. In our research, winter jujube fruits were treated with 0.001 mol L−1 PG solution for 20 min. Our results showed that PG delayed the development of peel color, and improved the firmness, total soluble solids (TSS), and titratable acid (TA) of winter jujube. Meanwhile, the PG treatment had higher content of total phenols, total flavonoids, ascorbic acid (AsA), and reduced glutathione (GSH), and kept the enzyme activity including superoxide dismutase (SOD), catalase (CAT), ascorbate peroxidase (APX), and peroxidase (POD) at a higher level. PG treatment reduced membrane oxidative damage and maintained the integrity of pericarp structure by reducing electrolyte leakage (EL), lipoxygenase activity (LOX), hydrogen peroxide (H2O2), and malondialdehyde (MDA) content in the peel. Accordingly, PG improved the postharvest quality of jujube fruits by regulating antioxidant metabolism and maintaining the structure of peel. The appropriate concentration of PG has good application potential in the storage and preservation of fresh fruits such as winter jujube.
Gastroparesis, Thymoma, and Asymptomatic Myasthenia: A Rare Clinical Scenario
Authors: Tamburella Consuelo , Parisi Silvana , Lillo Sara , Ferrantelli Giacomo , Critelli Paola , Viola Anna , Platania Angelo , Santoro Maria , Cacciola Alberto , Santacaterina Anna , Ferini Gianluca
Published: January 2022

Background: Paraneoplastic gastroparesis is a gastrointestinal syndrome that rarely precedes a tumor diagnosis. To increase awareness of this rare clinical entity, we present a case of severe gastroparesis, which was later proven to be associated with a thymoma. Case report: A 55-year old man had the sudden onset of severe abdominal cramps and abdominal distension, early satiety with postprandial nausea, acid regurgitation, belching, and flatulence. He lost about 20 pounds. The physical and imaging examination revealed stomach distension, gastroparesis, and the presence of a solid mass in the anterior mediastinum. Radical surgery was performed to remove the thymoma and, given the high value of Mib-1, the patient was submitted to postoperative chest radiation therapy. After thymectomy, a diagnosis of paraneoplastic myasthenia gravis with subacute autonomic failure was made. Conclusion: Autoimmune gastroparesis should be considered as a potential paraneoplastic syndrome in patients with thymoma, myasthenia gravis, and delayed gastric emptying in the absence of mechanical obstruction.
Wahi Pana Aloha ʻĀina: Storied Places of Resistance as Political Intervention
Authors: Ioane Keahialaka Waikaʻalulu
Published: January 2022

Wahi pana aloha ʻāina, storied places of resistance, is a historical and political research device that perpetuates contemporary Hawaiian sovereignty history, and can serve as a political intervention between Kanaka (Hawaiian people) and the State of Hawaiʻi. Wahi pana aloha ʻāina are places where movements and resistance in the name of aloha ʻāina occur. Aloha ʻāina is a founding quintessential concept to a Hawaiian worldview and epistemology. The genealogy of aloha ʻāina traditions, equipped generations of Kanaka with environmental keenness through a deep love for and connection to the land. During the illegal overthrow of the Kingdom of Hawaiʻi in the 1890s, aloha ʻāina became the political identity of Kanaka in the struggle for sovereignty of Hawaiʻi during the illegal encroachment by the United States. In the 1970’s during the Hawaiian renaissance (cultural re-awakening), leaders of the Protect Kahoʻolawe ʻOhana (the group who organized the first contemporary resistance by Kanaka against the U.S.) re-discovered and reclaimed aloha ʻāina to re-awaken the Hawaiian consciousness after decades of imposed American indoctrination. The Hawaiian renaissance led to a series of land movements that arose in opposition to America’s control of Hawaiian lands and became the basis for the Hawaiian Sovereignty Movement, or, the current Hawaiian political movement for better self-determination and the return of Hawaiʻi’s sovereignty to Kanaka. This legacy of storied places of resistance has been effectively written over by colonial historiography and the State of Hawaii’s legacy of American expansionism. This has manifested into a legacy of prejudice in the State of Hawaiʻi judicial system that favors non-Kanaka entities, initiatives and agendas, while disapproving and discrediting Kanaka self-determination initiatives and sovereignty agendas. Due to this, there is no concern from the State of Hawaiʻi in remedying the political conflicts that arise between Kanaka and the State. I argue that the normalization of wahi pana aloha ʻāina, can assist Kanaka in overcoming the negative impact of the colonial footprint of the State of Hawaiʻi over Kanaka ancestral legacies and land histories, and be used to reclaim Kanaka land rights. In this paper, I lay out the research behind the theory of wahi pana aloha ʻāina, and how it functions as a research tool in the field of Kanaka land struggles, with a specific focus on historical colonial resistance. Second, I exemplify the use of wahi pana aloha ʻāina through telling the story of the wahi pana aloha ʻāina of my own moʻokūʻauhau (genealogy) in Keaukaha on the Big Island of Hawaiʻi, and how my family and community maintain our moʻokūʻauhau and kuleana (rights/privilege/responsibility) through the practice of perpetuating wahi pana aloha ʻāina.
Methylphosphonate Degradation and Salt-Tolerance Genes of Two Novel Halophilic Marivita Metagenome-Assembled Genomes from Unrestored Solar Salterns
Authors: Bueno de Mesquita Clifton , Zhou Jinglie , Theroux Susanna , Tringe Susannah
Published: January 2022

Aerobic bacteria that degrade methylphosphonates and produce methane as a byproduct have emerged as key players in marine carbon and phosphorus cycles. Here, we present two new draft genome sequences of the genus Marivita that were assembled from metagenomes from hypersaline former industrial salterns and compare them to five other Marivita reference genomes. Phylogenetic analyses suggest that both of these metagenome-assembled genomes (MAGs) represent new species in the genus. Average nucleotide identities to the closest taxon were <85%. The MAGs were assembled with SPAdes, binned with MetaBAT, and curated with scaffold extension and reassembly. Both genomes contained the phnCDEGHIJLMP suite of genes encoding the full C-P lyase pathway of methylphosphonate degradation and were significantly more abundant in two former industrial salterns than in nearby reference and restored wetlands, which have lower salinity levels and lower methane emissions than the salterns. These organisms contain a variety of compatible solute biosynthesis and transporter genes to cope with high salinity levels but harbor only slightly acidic proteomes (mean isoelectric point of 6.48).
Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder
Authors: Domínguez-Ruiz María , Rodríguez-Ballesteros Montserrat , Gandía Marta , Gómez-Rosas Elena , Villamar Manuela , Scimemi Pietro , Mancini Patrizia , Rendtorff Nanna D. , Moreno-Pelayo Miguel A. , Tranebjaerg Lisbeth , Medà Carme , Santarelli Rosamaria , del Castillo Ignacio
Published: January 2022

Pathogenic variants in the PJVK gene cause the DFNB59 type of autosomal recessive non-syndromic hearing impairment (AR-NSHI). Phenotypes are not homogeneous, as a few subjects show auditory neuropathy spectrum disorder (ANSD), while others show cochlear hearing loss. The numbers of reported cases and pathogenic variants are still small to establish accurate genotype-phenotype correlations. We investigated a cohort of 77 Spanish familial cases of AR-NSHI, in whom DFNB1 had been excluded, and a cohort of 84 simplex cases with isolated ANSD in whom OTOF variants had been excluded. All seven exons and exon-intron boundaries of the PJVK gene were sequenced. We report three novel DFNB59 cases, one from the AR-NSHI cohort and two from the ANSD cohort, with stable, severe to profound NSHI. Two of the subjects received unilateral cochlear implantation, with apparent good outcomes. Our study expands the spectrum of PJVK mutations, as we report four novel pathogenic variants: p.Leu224Arg, p.His294Ilefs*43, p.His294Asp and p.Phe317Serfs*20. We review the reported cases of DFNB59, summarize the clinical features of this rare subtype of AR-NSHI and discuss the involvement of PJVK in ANSD.
Changes in Expression of Specific mRNA Transcripts after Single- or Re-Irradiation in Mouse Testes
Authors: Nagahori Kenta , Qu Ning , Kuramasu Miyuki , Ogawa Yuki , Kiyoshima Daisuke , Suyama Kaori , Hayashi Shogo , Sakabe Kou , Yoshimoto Takayuki , Itoh Masahiro
Published: January 2022

Alkylating agents and irradiation induce testicular damage, which results in prolonged azoospermia. Even very low doses of radiation can significantly impair testis function. However, re-irradiation is an effective strategy for locally targeted treatments and the pain response and has seen important advances in the field of radiation oncology. At present, little is known about the relationship between the harmful effects and accumulated dose of irradiation derived from continuous low-dose radiation exposure. In this study, we examined the levels of mRNA transcripts encoding markers of 13 markers of germ cell differentiation and 28 Sertoli cell-specific products in single- and re-irradiated mice. Our results demonstrated that re-irradiation induced significantly decreased testicular weights with a significant decrease in germ cell differentiation mRNA species (Spo11, Tnp1, Gfra1, Oct4, Sycp3, Ddx4, Boll, Crem, Prm1, and Acrosin). In the 13 Sertoli cell-specific mRNA species decreased upon irradiation, six mRNA species (Claudin-11,Espn, Fshr, GATA1, Inhbb, and Wt1) showed significant differences between single- and re-irradiation. At the same time, different decreases in Sertoli cell-specific mRNA species were found in single-irradiation (Aqp8, Clu, Cst12, and Wnt5a) and re-irradiation (Tjp1, occludin,ZO-1, and ZO-2) mice. These results indicate that long-term aspermatogenesis may differ after single- and re-irradiated treatment.
Establishing the Mutational Spectrum of Hungarian Patients with Familial Hypercholesterolemia
Authors: Madar László , Juhász Lilla , Szűcs Zsuzsanna , Kerkovits Lóránt , Harangi Mariann , Balogh István
Published: January 2022

Familial hypercholesterolemia (FH) is one of the most common autosomal, dominantly inherited diseases affecting cholesterol metabolism, which, in the absence of treatment, leads to the development of cardiovascular complications. The disease is still underdiagnosed, even though an early diagnosis would be of great importance for the patient to receive proper treatment and to prevent further complications. No studies are available describing the genetic background of Hungarian FH patients. In this work, we present the clinical and molecular data of 44 unrelated individuals with suspected FH. Sequencing of five FH-causing genes (LDLR, APOB, PCSK9, LDLRAP1 and STAP1) has been performed by next-generation sequencing (NGS). In cases where a copy number variation (CNV) has been detected by NGS, confirmation by multiplex ligation-dependent probe amplification (MLPA) has also been performed. We identified 47 causal or potentially causal (including variants of uncertain significance) LDLR and APOB variants in 44 index patients. The most common variant in the APOB gene was the c.10580G>A p.(Arg3527Gln) missense alteration, this being in accordance with literature data. Several missense variants in the LDLR gene were detected in more than one index patient. LDLR variants in the Hungarian population largely overlap with variants detected in neighboring countries.
Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring
Authors: Nagy Dóra , Verheyen Sarah , Wigby Kristen M. , Borovikov Artem , Sharkov Artem , Slegesky Valerie , Larson Austin , Fagerberg Christina , Brasch-Andersen Charlotte , Kibæk Maria , Bader Ingrid , Hernan Rebecca , High Frances A. , Chung Wendy K. , Schieving Jolanda H. , Behunova Jana , Smogavec Mateja , Laccone Franco , Witsch-Baumgartner Martina , Zobel Joachim , Duba Hans-Christoph , Weis Denisa
Published: January 2022

POGZ-related disorders (also known as White-Sutton syndrome) encompass a wide range of neurocognitive abnormalities and other accompanying anomalies. Disease severity varies widely among POGZ patients and studies investigating genotype-phenotype association are scarce. Therefore, our aim was to collect data on previously unreported POGZ patients and perform a large-scale phenotype-genotype comparison from published data. Overall, 117 POGZ patients’ genotype and phenotype data were included in the analysis, including 12 novel patients. A severity scoring system was developed for the comparison. Mild and severe phenotypes were compared with the types and location of the variants and the predicted presence or absence of nonsense-mediated RNA decay (NMD). Missense variants were more often associated with mild phenotypes (p = 0.0421) and truncating variants predicted to escape NMD presented with more severe phenotypes (p < 0.0001). Within this group, variants in the prolin-rich region of the POGZ protein were associated with the most severe phenotypes (p = 0.0004). Our study suggests that gain-of-function or dominant negative effect through escaping NMD and the location of the variants in the prolin-rich domain of the protein may play an important role in the severity of manifestations of POGZ–associated neurodevelopmental disorders.
Molecular Responses to Thermal and Osmotic Stress in Arctic Intertidal Mussels (Mytilus edulis): The Limits of Resilience
Authors: Barrett Nicholas J. , Thyrring Jakob , Harper Elizabeth M. , Sejr Mikael K. , Sørensen Jesper G. , Peck Lloyd S. , Clark Melody S.
Published: January 2022

Increases in Arctic temperatures have accelerated melting of the Greenland icesheet, exposing intertidal organisms, such as the blue mussel Mytilus edulis, to high air temperatures and low salinities in summer. However, the interaction of these combined stressors is poorly described at the transcriptional level. Comparing expression profiles of M. edulis from experimentally warmed (30 °C and 33 °C) animals kept at control (23‰) and low salinities (15‰) revealed a significant lack of enrichment for Gene Ontology terms (GO), indicating that similar processes were active under all conditions. However, there was a progressive increase in the abundance of upregulated genes as each stressor was applied, with synergistic increases at 33 °C and 15‰, suggesting combined stressors push the animal towards their tolerance thresholds. Further analyses comparing the effects of salinity alone (23‰, 15‰ and 5‰) showed high expression of stress and osmoregulatory marker genes at the lowest salinity, implying that the cell is carrying out intracellular osmoregulation to maintain the cytosol as hyperosmotic. Identification of aquaporins and vacuolar-type ATPase transcripts suggested the cell may use fluid-filled cavities to excrete excess intracellular water, as previously identified in embryonic freshwater mussels. These results indicate that M. edulis has considerable resilience to heat stress and highly efficient mechanisms to acclimatise to lowered salinity in a changing world.
Genetic Distribution of Five Spinocerebellar Ataxia Microsatellite Loci in Mexican Native American Populations and Its Impact on Contemporary Mestizo Populations
Authors: Gómez Rocío , Tapia-Guerrero Yessica , Cisneros Bulmaro , Orozco Lorena , Cerecedo-Zapata César , Mendoza-Caamal Elvia , Leyva-Gómez Gerardo , Leyva-García Norberto , Velázquez-Pérez Luis , Magaña Jonathan
Published: January 2022

Spinocerebellar ataxias (SCAs) conform a heterogeneous group of neurodegenerative disorders with autosomal dominant inheritance. Five of the most frequent SCAs are caused by a CAG repeat expansion in the exons of specific genes. The SCAs incidence and the distribution of polymorphic CAG alleles vary among populations and ethnicities. Thus, characterization of the genetic architecture of ethnically diverse populations, which have undergone recent admixture and demographic events, could facilitate the identification of genetic risk factors. Owing to the great ethnic diversity of the Mexican population, this study aimed to analyze the allele frequencies of five SCA microsatellite loci (SCA1, SCA2, SCA3, SCA6, and SCA7) in eleven Mexican Native American (MNA) populations. Data from the literature were used to compare the allelic distribution of SCA loci with worldwide populations. The SCA loci allelic frequencies evidenced a certain genetic homogeneity in the MNA populations, except for Mayans, who exhibited distinctive genetic profiles. Neither pathological nor large normal alleles were found in MNA populations, except for the SCA2 pre-mutated allele in the Zapotec population. Collectively, our findings demonstrated the contribution of the MNA ancestry in shaping the genetic structure of contemporary Mexican Mestizo populations. Our results also suggest that Native American ancestry has no impact on the origin of SCAs in the Mexican population. Instead, the acquisition of pathological SCA alleles could be associated with European migration.
Identification of AMH and AMHR2 Variants Led to the Diagnosis of Persistent Müllerian Duct Syndrome in Three Cases
Authors: Liu Yang , Wang Sida , Lan Ruzhu , Yang Jun
Published: January 2022

Persistent Müllerian duct syndrome (PMDS) is a rare autosomal recessive disorder of sexual development in males, defined by the presence of Müllerian remnants with otherwise normal sexual differentiation. Mutations in anti-Müllerian hormone (AMH) and AMH receptor type 2 (AMHR2) genes are the main causes of PMDS. In this study, we performed molecular genetic analysis of 11 unrelated cryptorchidism patients using whole-exome sequencing and classified the variants. Three of the 11 patients had biallelic mutations in AMH or AMHR2. Case 1 carried a homozygous 4-bp deletion; c.321_324del:p.Q109Lfs*29 in exon 1 of AMH (NM_000479 transcript), which is a frameshift mutation, leading to the loss of function of AMH. Case 2 carried compound heterozygous mutations; c.494_502del (p.I165_A168delinsT) in exon 4 and g.6147C>A of AMHR2 (NM_001164690 transcript). Case 3 carried compound heterozygous mutations; c.G1168A (p.E390K) in exon 9 and c.A1315G (p.M439V) in exon 10 of AMHR2 (NM_001164690 transcript). All three patients were admitted due to azoospermia- and oligospermia-caused infertility. They were furtherly diagnosed with PMDS, as pelvic magnetic resonance imaging revealed the presence of Müllerian remnants. Our study suggests that PMDS and genetic analysis should be considered during the differential diagnosis of cryptorchidism.
Evaluation of Different Cleaning Strategies for Removal of Contaminating DNA Molecules
Authors: Nilsson Martina , De Maeyer Hanne , Allen Marie
Published: January 2022

Decontamination strategies and their efficiencies are crucial when performing routine forensic analysis, and many factors influence the choice of agent to use. In this study, the effects of ten different cleaning strategies were evaluated to compare their ability to remove contaminating DNA molecules. Cell-free DNA or blood was deposited on three surfaces (plastic, metal, and wood) and decontaminated with various treatments. The quantities of recovered DNA, obtained by swabbing the surfaces after cleaning using the different strategies, was analyzed by real-time PCR. Large differences in the DNA removal efficiencies were observed between different cleaning strategies, as well as between different surfaces. The most efficient cleaning strategies for cell-free DNA were the different sodium hypochlorite solutions and Trigene®, for which a maximum of 0.3% DNA was recovered on all three surfaces. For blood, a maximum of 0.8% of the deposited DNA was recovered after using Virkon® for decontamination. The recoveries after using these cleaning strategies correspond to DNA from only a few cells, out of 60 ng of cell-free DNA or thousands of deposited blood cells.
Impact of a Digital Intervention for Literacy in Depression among Portuguese University Students: A Randomized Controlled Trial
Authors: Durán Lersi D. , Almeida Ana Margarida , Lopes Ana Cristina , Figueiredo-Braga Margarida
Published: January 2022

Digital interventions are important tools to promote mental health literacy among university students. “Depression in Portuguese University Students” (Depressão em Estudantes Universitários Portugueses, DEEP) is an audiovisual intervention describing how symptoms can be identified and what possible treatments can be applied. The aim of this study was to evaluate the impact of this intervention. A random sample of 98 students, aged 20–38 years old, participated in a 12-week study. Participants were recruited through social media by the academic services and institutional emails of two Portuguese universities. Participants were contacted and distributed into four study groups (G1, G2, G3 and G4): G1 received the DEEP intervention in audiovisual format; G2 was given the DEEP in text format; G3 received four news articles on depression; G4 was the control group. A questionnaire was shared to collect socio-demographic and depression knowledge data as a pre-intervention method; content was then distributed to each group following a set schedule; the depression knowledge questionnaire was then administered to compare pre-intervention, post-intervention and follow-up literacy levels. Using the Scheffé and Least Significant Difference (LSD) multiple comparisons test, it was found that G1, which received the DEEP audiovisual intervention, differed significantly from the other groups, with higher depression knowledge scores in post-intervention stages. The DEEP audiovisual intervention, compared to the other formats used (narrative text format; news format), proved to be an effective tool for increasing depression knowledge in university students.
Deep Ensemble Learning-Based Models for Diagnosis of COVID-19 from Chest CT Images
Authors: Mouhafid Mohamed , Salah Mokhtar , Yue Chi , Xia Kewen
Published: January 2022

Novel coronavirus (COVID-19) has been endangering human health and life since 2019. The timely quarantine, diagnosis, and treatment of infected people are the most necessary and important work. The most widely used method of detecting COVID-19 is real-time polymerase chain reaction (RT-PCR). Along with RT-PCR, computed tomography (CT) has become a vital technique in diagnosing and managing COVID-19 patients. COVID-19 reveals a number of radiological signatures that can be easily recognized through chest CT. These signatures must be analyzed by radiologists. It is, however, an error-prone and time-consuming process. Deep Learning-based methods can be used to perform automatic chest CT analysis, which may shorten the analysis time. The aim of this study is to design a robust and rapid medical recognition system to identify positive cases in chest CT images using three Ensemble Learning-based models. There are several techniques in Deep Learning for developing a detection system. In this paper, we employed Transfer Learning. With this technique, we can apply the knowledge obtained from a pre-trained Convolutional Neural Network (CNN) to a different but related task. In order to ensure the robustness of the proposed system for identifying positive cases in chest CT images, we used two Ensemble Learning methods namely Stacking and Weighted Average Ensemble (WAE) to combine the performances of three fine-tuned Base-Learners (VGG19, ResNet50, and DenseNet201). For Stacking, we explored 2-Levels and 3-Levels Stacking. The three generated Ensemble Learning-based models were trained on two chest CT datasets. A variety of common evaluation measures (accuracy, recall, precision, and F1-score) are used to perform a comparative analysis of each method. The experimental results show that the WAE method provides the most reliable performance, achieving a high recall value which is a desirable outcome in medical applications as it poses a greater risk if a true infected patient is not identified.
An Abrupt Transition to Digital Teaching—Norwegian Medical Students and Their Experiences of Learning Output during the Initial Phase of the COVID-19 Lockdown
Authors: Helland Henriette K. , Tylleskär Thorkild , Kvernenes Monika , Reikvam Håkon
Published: January 2022

Norwegian universities closed almost all on-campus activities on the 12 March 2020 following a lockdown decision of the Norwegian government in response to the COVID-19 pandemic. Online and digital teaching became the primary method of teaching. The goal of this study was to investigate how the transition to digital education impacted on medical students enrolled at the University of Bergen (UiB). Key points were motivation, experience of learning outcomes, and fear of missing out on important learning. Using an online questionnaire, students were asked to evaluate the quality of both lectures and taught clinical skills and to elaborate on their experience of learning output, examination, and digital teaching. Answers from 230 students were included in the study. Opinions on the quality and quantity of lectures offered and their experience of learning output varied based on gender, seniority and the amount of time spent on part time jobs. Students at UiB were generally unhappy with the quality of teaching, especially lessons on clinical skills, although both positive and negative experiences were reported. Securing a satisfying offer of clinical teaching will be important to ensure and increase the student experience of learning output in the time ahead.
Twelve-Week Lower Trapezius-Centred Muscular Training Regimen in University Archers
Authors: Liao Chien-Nan , Fan Chun-Hao , Hsu Wei-Hsiu , Chang Chia-Fang , Yu Pei-An , Kuo Liang-Tseng , Lu Bo-Ling , Hsu Robert Wen-Wei
Published: January 2022

Archery is a fine-motor-skill sport, in which success results from multiple factors including a fine neuromuscular tuning. The present study hypothesised that lower trapezius specific training can improve archers’ performance with concomitant changes in muscle activity and shoulder kinematics. We conducted a prospective study in a university archery team. Athletes were classified into exercise and control groups. A supervised lower trapezius muscle training program was performed for 12 weeks in the exercise group. The exercise program focused on a lower trapezius-centred muscular training. Performance in a simulated game was recorded as the primary outcome, and shoulder muscle strength, kinematics, and surface electromyography were measured and analysed. In the exercise group, the average score of the simulation game increased from 628 to 639 after the training regimens (maximum score was 720), while there were no such increases in the control group. The lower trapezius muscle strength increased from 8 to 9 kgf after training regimens and shoulder horizontal abductor also increased from 81 to 93 body weight% for the exercise group. The upper/lower trapezius ratio decreased from 2.2 to 1.1 after training. The lower trapezius exercise training regimen could effectively improve the performance of an archer with a simultaneous increase in shoulder horizontal abductor and lower trapezius muscle strength.
Pathway of Trends and Technologies in Fall Detection: A Systematic Review
Authors: Tanwar Rohit , Nandal Neha , Zamani Mazdak , Manaf Azizah Abdul
Published: January 2022

Falling is one of the most serious health risk problems throughout the world for elderly people. Considerable expenses are allocated for the treatment of after-fall injuries and emergency services after a fall. Fall risks and their effects would be substantially reduced if a fall is predicted or detected accurately on time and prevented by providing timely help. Various methods have been proposed to prevent or predict falls in elderly people. This paper systematically reviews all the publications, projects, and patents around the world in the field of fall prediction, fall detection, and fall prevention. The related works are categorized based on the methodology which they used, their types, and their achievements.
Mental Health Promotion and Intervention in Occupational Settings: Protocol for a Pilot Study of the MENTUPP Intervention
Authors: Arensman Ella , O’Connor Cliodhna , Leduc Caleb , Griffin Eve , Cully Grace , Ní Dhálaigh Doireann , Holland Carolyn , Van Audenhove Chantal , Coppens Evelien , Tsantila Fotini , Ross Victoria , Aust Birgit , Pashoja Arlinda Cerga , Cresswell-Smith Johanna , Cox Laura , de Winter Lars , Fanaj Naim , Greiner Birgit A. , Hegerl Ulrich , Mathieu Sharna , Moreno-Alcázar Ana , Orchard Wendy , Paterson Charlotte , Purebl György , Qirjako Gentiana , Reich Hanna , Corcoran Paul
Published: January 2022

Depression and anxiety are the most prevalent mental health difficulties in the EU, causing immense suffering and costing the global economy EUR 1 trillion each year in lost productivity. Employees in construction, health and information and communications technology have an elevated risk of mental health difficulties. Most mental health interventions for the workplace have been targeted at larger companies and small and medium-sized enterprises (SMEs) are often overlooked despite most people being employed in SMEs. The MENTUPP intervention aims to improve mental health and wellbeing and reduce depression, anxiety, and suicidal behaviour. The MENTUPP project involves the development, implementation, and evaluation of a multilevel intervention targeting both clinical and non-clinical mental health issues and combating the stigma of mental (ill-)health, with a specific focus on SMEs. The intervention is underpinned by a framework of how to create a mentally healthy workplace by employing an integrated approach and has been informed by several systematic reviews designed to understand organisational mental health interventions and a consultation survey with key experts in the area. The intervention is facilitated through the MENTUPP Hub, an online platform that presents interactive psychoeducational materials, toolkits, and links to additional resources in an accessible and user-friendly manner. This paper presents the pilot study protocol for delivering the MENTUPP intervention in eight European countries and Australia. Each intervention country will aim to recruit at least 23 participants in 1–3 SMEs in one of the three high-risk sectors. The central aim of the pilot study will be to examine the feasibility, acceptability, and uptake of the MENTUPP intervention across the target SMEs. The findings will contribute to devising the protocol for a cluster randomised controlled trial (cRCT) of the MENTUPP intervention. Findings from this study will also be used to inform the optimisation phase of the MENTUPP intervention which will aim to improve the materials and the implementation of the intervention as well as enhancing the evaluation strategy which will be employed for the cRCT.