bluuebunny/crossref_metadata_2025 huggingface dataset:
Balancing between predation risk and food by boreal breeding ducks
Authors: Holopainen Sari , Miettinen Elmo , Väänänen Veli‐Matti , Nummi Petri , Pöysä Hannu
Published: February 2024

Wetlands belong to the globally most threatened habitats, and organisms depending on them are of conservation concern. Wetland destruction and quality loss may affect negatively also boreal breeding ducks in which habitat selection often needs balancing between important determinants of habitat suitability. In Finland duck population trajectories are habitat‐specific, while the reasons behind are poorly understood. In this research, we studied the balance of nest predation risk and invertebrate food abundance in boreal breeding ducks in Finland at 45 lakes and ponds in 2017 and 2018. We surveyed duck pairs and broods from these and 18 additional water bodies. We evaluated nest predation by monitoring artificial nests with camera traps over a 7‐day exposure period and sampled invertebrates from water bodies using emergence and activity traps. Camera trap results indicate that predation risk was higher in the water bodies surrounded by agricultural land than in forestland. Ponds (seasonal, beaver, and man‐made) had lower nest predation risk, and they were also more invertebrate‐rich than permanent lakes. In addition, artificial nests further away from water bodies had higher survival than shoreline nests. Habitat use of duck pairs was not associated with invertebrate food, but duck broods preferred habitats rich in food. High nest predation pressure in shorelines of especially agricultural landscapes may contribute to the declining population trends of ducks in Finland. Controlling predators could be an important conservation action to improve duck breeding success. This research underlines the benefits of the availability of different water body types for breeding ducks. There is an urgent need to pay attention to protecting seasonal ponds, while the lack of flooded waters may be mitigated by favouring beavers or creating man‐made ponds.
Effect of hypoxic sprint interval exercise and normoxic recovery on performance and acute physiological responses
Authors: Takei Naoya , Kakehata Gaku , Inaba Takeru , Morita Yuki , Sano Hinata , Girard Olivier , Hatta Hideo
Published: February 2024

Hypoxic exercise, which can induce arterial and tissue deoxygenation, promotes physiological adaptations. However, reduced oxygen availability can lower the absolute training intensity (i.e., mechanical stress). Adding normoxic recovery to sprint interval exercise (SIE) is one potential approach to strike a balance between providing a hypoxic stimulus and maintaining the absolute training intensity. However, the effects of adding normoxic recovery to SIE on performance and physiological responses are uncertain. We tested the hypothesis that hypoxic SIE with normoxic recovery enhances arterial deoxygenation and muscle deoxygenation levels without impeding performance compared to an entirely normoxic condition. On separate days, seven male sprinters performed 4 × 30‐s ‘all‐out’ cycle sprints with 4.5‐min recovery with hypoxic exposure (FiO2: 12.7%O2) applied continuously (hypoxia, HYP), intermittently during sprint periods only (intermittent, INT), or not at all (normoxia, NOR). Power output, oxygen saturation, muscle oxygenation, surface electromyography (EMG) activity, heart rate, blood lactate concentration, and ratings of perceived exertion were measured. The total work significantly decreased in HYP than NOR (p < 0.05) and INT (p < 0.01). The aTrterial oxygen saturation was lower during HYP than NOR (∼86% vs. ∼97%; p < 0.001), while lower values were also obtained for INT than NOR during sprint periods (∼85% vs. ∼97%; p < 0.001) but not during recovery periods (∼96% vs. ∼97%). The heart rate differed (p < 0.05) between conditions (NOR: ∼164 bpm; INT: ∼160 bpm; HYP: ∼156 bpm). No other variables demonstrated significant differences between conditions. Adding hypoxia during exercise while recovering in normoxia did not compromise exercise capacity during SIE, despite inducing larger arterial deoxygenation levels compared to normoxia.
System Power Quality Analysis under Wind–Hydro Complementary Generation Mode
Authors: Gao Yuanqiang , Liu Siyang , Sun Xianan , Liu Jing , Liu Zhengguang , Chen Diyi , Zhao Ziwen
Published: February 2024

The highly random and characteristics of wind power generation challenge the power quality of the wind–hydro complementary generation system (WHCGS). Herein, the transient characteristics of power quality under the complementary generating mode are studied. First, a nonlinear hydropower system (HPS) model is innovatively established considering the dynamic characteristics of hydrounits under part load operation, and then a wind power system model including wind speed model, wind turbine and its controller, generator and converter is established. Finally, the applicability of WHCGS model in power quality evaluation is established and verified by IEEE‐9 node model. Combined with active power, frequency, and voltage power quality indicators, the effects of wind–hydro capacity ratio and voltage sag on the system are quantified. The results show that the increase in wind power penetration will deteriorate the power quality of WHCGS. Moreover, when the wind power capacity reaches 60 MW, it will damage the voltage and frequency stability of HPS. Besides, the larger the voltage sag amplitude, the worse the power quality of WHCGS. The longer the voltage sag lasts, the higher the risk of WHCGS instability. This article provides a technical reference for the safe and stable operation of WHCGS.
An overcooled coarse‐grained talus slope at low elevation: New insights on air circulation and environmental impacts, Cannon Cliff, New Hampshire, USA
Authors: Germain Daniel , Milot Jean‐François
Published: February 2024

Overcooled talus slopes are generally described as islands of sporadic permafrost below the lower alpine limit of permafrost. The negative thermal anomaly of the ground is mainly consecutive to the internal ventilation of the deposit, but it is also conditioned by multiple factors as topography, slope aspect and incline, openwork structure and coarseness of the deposit, air temperature, solar radiation and wind regime. Therefore, the study of the spatiotemporal dynamics of ventilation processes allows a better understanding of the phenomenon. At Cannon Cliff, New Hampshire (USA), several field visits and environmental monitoring allowed us to describe the varying nature and significance of the ventilation mechanisms that can be observed at the ground surface and associated with both the intensity and direction of the airflows in a talus debris accumulation/protalus rampart system. The thermal negative anomalies are strong enough to lower the ground temperature to the point of preserving ice during the late spring and summer seasons. The monitoring of the gradient between external (air) and internal (talus) temperatures coupled with several dendroecological and geomorphological analyses provided a complete environmental picture of the impacts, feedback and extent of the phenomenon.
Age‐related positive emotional reactivity decline associated with the anterior insula based resting‐state functional connectivity
Authors: Niu Lijing , Song Xiaoqi , Li Qian , Peng Lanxin , Dai Haowei , Zhang Jiayuan , Chen Keyin , Lee Tatia M. C. , Zhang Ruibin
Published: February 2024

Recent studies have suggested that emotional reactivity changes with age, but the neural basis is still unclear. The insula may be critical for the emotional reactivity. The current study examined how ageing affects emotional reactivity using the emotional reactivity task data from a human sample (Cambridge Center for Age and Neuroscience, N = 243, age 18–88 years). The resting‐state magnetic resonance measurements from the same sample were used to investigate the potential mechanisms of the insula. In the initial analysis, we conducted partial correlation assessments to examine the associations between emotional reactivity and age, as well as between the gray matter volume (GMV) of the insula and age. Our results revealed that emotional reactivity, especially positive emotional reactivity, decreased with age and that the GMV of the insula was negatively correlated with age. Subsequently, the bilateral insula was divided into six subregions to calculate the whole brain resting‐state functional connectivity (rsFC). The mediating effect of the rsFC on age and emotional reactivity was then calculated. The results showed that the rsFC of the left anterior insula (AI) with the right hippocampus, and the rsFCs of the right AI with the striatum and the thalamus were mediated the relationship between positive emotional reactivity and age. Our findings suggest that attenuating emotional reactivity with age may be a strategic adaptation fostering emotional stability and diminishing emotional vulnerability. Meanwhile, the findings implicate a key role for the AI in the changes in positive emotional reactivity with age.
Exiting primary care providers
Authors: Zocher Katrin
Published: February 2024

This article studies the impact of primary care providers (PCPs) exit from the local health care system on patients' health care utilization. I compare patients with each other whose physicians have left the local health care system at different points in time due to retirement, relocation, or other reasons. Estimation results indicate that the imminent exit leads soon‐leaving physicians to changing their treatment behavior, which has a significant impact on patients' health care spending. In addition, successors and new PCPs provide significantly more preventive services in the post‐exit‐period and refer patients more often to specialists for further examinations than the physicians who exit later. The increased inpatient expenditures in the post‐exit period are caused by the new PCPs (through referrals). Self‐initiated substitution behavior of patients (e.g., less PCP care, more specialist care) after the exit is observed but is low in magnitude. Although an overall increase in health service utilization is observed, mortality in the post‐exit periods is significantly increased among affected patients. A possible explanation is the low frequency follow‐up care of patients who were referred to hospitals by their former PCP in the notification‐period.
Ovarian cancer survival in sub‐Saharan Africa by human development index and histological subtypes: A population‐based registry study
Authors: Gizaw Muluken , Parkin Donald Maxwell , Stöter Ole , Bukirwa Phiona , Seife Edom , Chesumbai Gladys , Korir Anne , Liu Biying , Manraj Shyam S. , Nda Guy , Somdyala Nontuthuzelo I. M. , Kantelhardt Eva Johanna
Published: February 2024

Ovarian cancer (OC) is the fourth most common cancer of women in sub‐Saharan Africa (SSA), although few data have been published on population‐level survival. We estimate ovarian cancer survival in SSA by human development index and histological subtype, using data from seven population‐based cancer registries in six countries: Kenya (Nairobi and Eldoret), Mauritius, Uganda (Kampala), Cote d'Ivoire (Abidjan), Ethiopia (Addis Ababa) and South Africa (Eastern Cape). A total of 644 cases diagnosed during 2008–2014 were included, with 77% being of epithelial subtypes (range 47% [Abidjan]—80% [Mauritius]). The overall observed survival in the study cohort was 73.4% (95% CI: 69.8, 77.0) at 1 year, 54.4% (95% CI: 50.4, 58.7) at 3 years and 45.0% (95% CI: 41.0, 49.4) at 5 years. Relative survival at Year 1 ranged from 44.4% in Kampala to 86.3% in Mauritius, with a mean for the seven series of 67.4%. Relative survival was highest in Mauritius at 72.2% and lowest in Kampala, Uganda at 19.5%, with a mean of 47.8%. There was no difference in survival by age at diagnosis. Patients from high and medium HDI countries had significantly better survival than those from low HDI countries. Women with cancers of epithelial cell origin had much lower survival compared to women with other histological subtypes (p = .02). Adjusted for the young age of the African patients with ovarian cancer (44% aged <50) survival is much lower than in USA or Europe, and underlines the need for improvements in the access to diagnosis and treatment of OC in SSA.
Antenatal steroids and neonatal outcomes in late preterm births with pregestational diabetes
Authors: Khanuja Kavisha , Jayakumaran Jenani , Al‐Kouatly Huda B. , McLaren Rodney A.
Published: February 2024

Objective

To evaluate if antenatal steroid use was associated with a lower rate of respiratory complications in neonates born late preterm to patients with pregestational diabetes mellitus (PGDM).

Methods

This was a retrospective cohort study of live, singleton, non‐anomalous, late preterm births complicated by PGDM using data from the Centers for Disease Control and National Vital Statistics System from 2017 to 2021. The primary (assisted ventilation use >6 h) and secondary neonatal outcomes (immediate assisted ventilation, Apgar score, neonatal intensive care unit [NICU] admission, and surfactant use) were compared between births that received steroids and those that did not. Multivariable analyses were performed to adjust for differences in demographic and clinical characteristics.

Results

There were 24 323 late preterm births with PGDM, of which 4613 received antenatal steroids and 19 710 did not receive steroids. After adjusting for the differences among the two groups, the need for assisted neonatal ventilation for more than 6 h (adjusted odds ratio [aOR] 1.69, 95% confidence interval [CI] 1.53–1.86), immediate assisted neonatal ventilation (aOR 1.67, 95% CI 1.55–1.80), NICU admission (aOR 1.95, 95% CI 1.81–2.10), and surfactant use (aOR 1.68, 95% CI 1.40–2.02) were higher in the births that received steroids compared with those that did not. These findings did not differ when examining outcomes at each gestational week of delivery between 34 weeks 0 days and 36 weeks 6 days.

Conclusions

Antenatal steroid use in late preterm births complicated with PGDM was associated with worse immediate respiratory neonatal outcomes. Our findings support current recommendations against the use of steroids in the late preterm period in pregnancies with PGDM.
The expanding role of sonography for the diagnosis of deep infiltrating endometriosis: Results of a large case series
Authors: Fernandez Carlos M. , Levine Elliot M. , Shashoua Abraham , Tam Maria Teresa , Diaz Lucero
Published: February 2024

Objective

To investigate the value of the sonographic identification of deep infiltrating endometriosis (DIE) in women presenting with complaints suggestive of DIE. Sonography findings were correlated with subsequent surgical exploration, and histologic verification.

Methods

A retrospective observational case series was investigated to document the ability of the use of sonography to accurately detect the presence of deep infiltrating endometriosis. The clinical observations were performed consistent with the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) recommendations for observational studies. Recognizing the real‐world office setting for this may introduce the importance of the practical clinical aspects of diagnostic procedures in general.

Results

Three‐dimensional transvaginal sonography was able to accurately identify deep invasive endometriosis in 92% of the 100 women subjectively complaining of the associated symptoms of endometriosis, who underwent sonography, surgical exploration, and pathologic analysis. Additional sonographic evidence of pelvic pathology was found during the course of this investigation, perhaps complementing other means for diagnosing endometriosis.

Conclusion

Three‐dimensional transvaginal sonography is a diagnostic tool that can effectively identify deep infiltrating endometriosis, which may otherwise go undetected and untreated. These findings should encourage the use of sonography for the detection of this subtype of endometriosis.
The potential health risks of N,N‐dimethylformamide: An updated review
Authors: Hong Shu‐Jun , Zhang Xiu‐Ning , Sun Zhan , Zeng Tao
Published: February 2024

N,N‐dimethylformamide (DMF) is a universally used industrial material with exponential growth in production and consumption worldwide. The frequently reported occupational DMF poisoning cases in some countries and the gradually recognized unavoidable health risks to the general population highlight that DMF should still be a matter of concern. Previous studies have demonstrated that the liver is the primary target organ of DMF exposure and multiple mechanisms have been revealed. However, most of these studies investigate the detrimental effects of acute and subacute DMF exposure, while the effects of chronic DMF exposure are rarely studied. Furthermore, the key mechanism for the acute hepatotoxicity of DMF remains to be elucidated. Future research may focus on the identification of efficient preventive measures against the toxicity of DMF to occupational workers, the investigation of the detrimental effects of DMF at environmentally relevant doses, and the studies on the elimination and recycling of DMF in industrial wastes. Herein, we present an updated review of the metabolism of DMF, the biomarker of DMF exposure, underlying molecular mechanisms of DMF‐induced hepatotoxicity, and the toxicity of DMF to both occupational workers and general populations and discuss the possible directions in future studies.
Phenibut: Review and Pharmacologic Approaches to Treating Withdrawal
Authors: Penzak Scott R. , Bulloch Marilyn
Published: February 2024

β‐Phenyl‐γ‐aminobutyric acid (phenibut) is an analog of the inhibitory neurotransmitter γ‐aminobutyric acid (GABA) that was first synthesized in Russia in the early 1960s. It is marketed as a nootropic (smart drug) to improve cognitive performance, and to treat generalized and social anxiety, insomnia, and alcohol withdrawal. The use of phenibut is legal in the USA and it is widely available online without a prescription. Increased public awareness of phenibut has led to a growing number of reports of acute intoxication and withdrawal. In this review, we describe the pharmacology of phenibut, the presentation and management of acute intoxication, and regulatory issues, placing particular emphasis on the treatment of acute withdrawal, for which there are no comparative studies. Among 29 cases of phenibut withdrawal, patients were successfully treated with baclofen, benzodiazepines, and phenobarbital, as individual agents or in various combinations. Ancillary medications included antipsychotics, dexmedetomidine, gabapentin, and pregabalin. After stabilization, a number of patients did well on baclofen tapers, whereas others were weaned off benzodiazepines or phenobarbital. Phenobarbital may be preferred over baclofen, or used as an added agent, in patients at risk for seizures. As long as phenibut remains legal, cases of phenibut intoxication and withdrawal are likely to increase. As urine or plasma drug screening for phenibut is not widely available, it is vital that clinicians obtain a detailed medication history in patients presenting to the emergency department with nonspecific symptoms that may represent phenibut intoxication or withdrawal. Further, clinicians may wish to consult an addiction specialist or toxicologist in these situations.
Manure nutrient cycling in US animal agriculture basins—North Carolina case study
Authors: Huezo Luis , Jones Daniela , Edwards Eric , Sharara Mahmoud
Published: February 2024

Nutrient cycling in crop–animal production is impacted by changes in both systems, with imbalance hotspots in concentrated animal production regions severely impacting water quality. This study assesses manure–crop nutrient balances in five river basins in North Carolina and demonstrates a new approach for partial nutrient balances along hydrological boundaries. County‐level crop production data were combined with crop‐type spatial distribution data to derive spatially referenced nutrient uptake and removal. Similarly, spatially referred animal production inventory data were used to derive excreted and recovered manure nutrients. Partial nutrient balances were developed for both N and P in basins and hydrologic units. Excreted manure N and P were 139% and 159% of respective plant N and P removal at harvest across the five basins. Finer geographical scales revealed hotspots for manure surplus, particularly within the Cape Fear basin (up to 96% N and 97% P). Despite N hotspots, plant‐available manure N met only 38% of crop N demand due to significant losses during storage. Plant‐available manure P exceeded crop P removal by 54% over the entire area. Cape Fear showed the greatest P excess, 76% greater than crop removal. This study contributes to nutrient cycling improvements by connecting crop–animal nutrient budgets to hydrologic resources. Furthermore, we show the value of finer spatial scales to identify hotspots that play a significant role in nutrient losses. We conclude that nutrient‐surplus basins require, in addition to manure nutrient conservation, a basin‐wide redistribution and export strategies to address nutrient excesses and water quality impacts.
Bioengineered small extracellular vesicles deliver multiple SARS‐CoV‐2 antigenic fragments and drive a broad immunological response
Authors: Jackson Hannah K. , Long Heather M. , Yam‐Puc Juan Carlos , Palmulli Roberta , Haigh Tracey A. , Gerber Pehuén Pereyra , Lee Jin S. , Matheson Nicholas J. , Young Lesley , Trowsdale John , Lo Mathew , Taylor Graham S. , Thaventhiran James E. , Edgar James R.
Published: February 2024

The COVID‐19 pandemic highlighted the clear risk that zoonotic viruses pose to global health and economies. The scientific community responded by developing several efficacious vaccines which were expedited by the global need for vaccines. The emergence of SARS‐CoV‐2 breakthrough infections highlights the need for additional vaccine modalities to provide stronger, long‐lived protective immunity. Here we report the design and preclinical testing of small extracellular vesicles (sEVs) as a multi‐subunit vaccine. Cell lines were engineered to produce sEVs containing either the SARS‐CoV‐2 Spike receptor‐binding domain, or an antigenic region from SARS‐CoV‐2 Nucleocapsid, or both in combination, and we tested their ability to evoke immune responses in vitro and in vivo. B cells incubated with bioengineered sEVs were potent activators of antigen‐specific T cell clones. Mice immunised with sEVs containing both sRBD and Nucleocapsid antigens generated sRBD‐specific IgGs, nucleocapsid‐specific IgGs, which neutralised SARS‐CoV‐2 infection. sEV‐based vaccines allow multiple antigens to be delivered simultaneously resulting in potent, broad immunity, and provide a quick, cheap, and reliable method to test vaccine candidates.
Clinical and prognostic significance analysis of glycolysis‐related genes in HNSCC
Authors: Yuan Qiuyun , Mao Mengqian , Xia Xiaoqiang , Yang Wanchun
Published: February 2024

Background

Head and neck squamous cell carcinoma (HNSCC) represents one of the most malignant cancers worldwide, with poor survival. Experimental evidence implies that glycolysis/hypoxia is associated with HNSCC. In this study, we aimed to construct a novel glycolysis‐/hypoxia‐related gene (GHRG) signature for survival prediction of HNSCC.

Methods

A multistage screening strategy was used to establish the GHRG prognostic model by univariate/least absolute shrinkage and selection operator (LASSO)/step multivariate Cox regressions from The Cancer Genome Atlas cohort. A nomogram was constructed to quantify the survival probability. Correlations between risk score and immune infiltration and chemotherapy sensitivity were explored.

Results

We established a 12‐GHRG mRNA signature to predict the prognosis in HNSCC patients. Patients in the high‐risk score group had a much worse prognosis. The predictive power of the model was validated by external HNSCC cohorts, and the model was identified as an independent factor for survival prediction. Immune infiltration analysis showed that the high‐risk score group had an immunosuppressive microenvironment. Finally, the model was effective in predicting chemotherapeutic sensitivity.

Conclusions

Our study demonstrated that the GHRG model is a robust prognostic tool for survival prediction of HNSCC. Findings of this work provide novel insights for immune infiltration and chemotherapy of HNSCC, and may be applied clinically to guide therapeutic strategies.
Impact of mental health boarding on clinicians at a children's hospital: A qualitative analysis
Authors: Worsley Diana , Bowden Cadence , Keating Cameron , Cassidy Kyla , Doupnik Stephanie K.
Published: February 2024

Background

The child and adolescent mental health boarding crisis (i.e., prolonged stays in acute care hospitals for patients awaiting mental health treatment) continues to challenge acute care hospital staff and resources. We sought to understand clinician's experiences while caring for patients experiencing mental health boarding.

Methods

We conducted semistructured qualitative interviews with clinicians who care for patients experiencing mental health boarding in an acute care freestanding children's hospital with no inpatient psychiatric unit. We used an inductive approach to determine interview themes and major findings.

Results

The study included 48 clinician participants from diverse specialties, including 13 social workers, 11 nurses, five psychiatric technicians, six pediatric residents, four attending pediatric hospitalists, four attending psychiatrists, one psychologist, and four other mental health specialists. We identified emergent themes in five domains: (1) frustrations with the mental healthcare system, (2) lack of training in mental healthcare skills, (3) feelings of helplessness, (4) ineffectiveness of medical model of care during mental health boarding, and (5) resilience and support factors.

Conclusions

Caring for patients with mental health boarding has negative effects on clinicians, and health system efforts to prevent boarding could improve workforce retention and reduce burnout.
Functional MRI of the Brainstem for Assessing Its Autonomic Functions: From Imaging Parameters and Analysis to Functional Atlas
Authors: Mohamed Abdalla Z. , Kwiatek Richard , Del Fante Peter , Calhoun Vince D. , Lagopoulos Jim , Shan Zack Y.
Published: February 2024

Background

The brainstem is a crucial component of the central autonomic nervous (CAN) system. Functional MRI (fMRI) of the brainstem remains challenging due to a range of factors, including diverse imaging protocols, analysis, and interpretation.

Purpose

To develop an fMRI protocol for establishing a functional atlas in the brainstem.

Study Type

Prospective cross‐sectional study.

Subjects

Ten healthy subjects (four males, six females).

Field Strength/Sequence

Using a 3.0 Tesla MR scanner, we acquired T1‐weighted images and three different fMRI scans using fMRI protocols of the optimized functional Imaging of Brainstem (FIBS), the Human Connectome Project (HCP), and the Adolescent Brain Cognitive Development (ABCD) project.

Assessment

The temporal signal‐to‐noise‐ratio (TSNR) of fMRI data was compared between the FIBS, HCP, and ABCD protocols. Additionally, the main normalization algorithms (i.e., FSL‐FNIRT, SPM‐DARTEL, and ANTS‐SyN) were compared to identify the best approach to normalize brainstem data using root‐mean‐square (RMS) error computed based on manually defined reference points. Finally, a functional autonomic brainstem atlas that maps brainstem regions involved in the CAN system was defined using meta‐analysis and data‐driven approaches.

Statistical Tests

ANOVA was used to compare the performance of different imaging and preprocessing pipelines with multiple comparison corrections (P ≤ 0.05). Dice coefficient estimated ROI overlap, with 50% overlap between ROIs identified in each approach considered significant.

Results

The optimized FIBS protocol showed significantly higher brainstem TSNR than the HCP and ABCD protocols (P ≤ 0.05). Furthermore, FSL‐FNIRT RMS error (2.1 ± 1.22 mm; P ≤ 0.001) exceeded SPM (1.5 ± 0.75 mm; P ≤ 0.01) and ANTs (1.1 ± 0.54 mm). Finally, a set of 12 final brainstem ROIs with dice coefficient ≥0.50, as a step toward the development of a functional brainstem atlas.

Data Conclusion

The FIBS protocol yielded more robust brainstem CAN results and outperformed both the HCP and ABCD protocols.

Evidence Level

2

Technical Efficacy

Stage 1
First report of ATP2A2 somatic mosaicism occurring during embryogenesis in transient acantholytic dermatosis
Authors: Hiromatsu Emi , Abe Toshifumi , Teye Kwesi , Koga Hiroshi , Ishii Norito , Hamada Takahiro , Nakama Takekuni
Published: February 2024

Transient acantholytic dermatosis (TAD) is a relatively common skin disease that typically affects older individuals, which shows clinical and histologic similarities to autosomal dominant Darier disease. TAD was recently shown to be caused by somatic ATP2A2 damaging variants. In this study, we performed Sanger sequencing and droplet digital PCR (ddPCR) in a Japanese elderly male with TAD to identify ATP2A2 somatic mosaicism occurring during embryogenesis for the first time and mutant allelic fraction (MAF). Sanger sequencing revealed a known heterozygous substitution c.1645C>T, p.Arg549* in ATP2A2 from blood and the affected skin containing the epidermis and dermis, whereas the signals of the mutated allele were weaker, suggesting that discrepancy of signal intensities demonstrates the presence of somatic mosaicism. By ddPCR, the normal and mutant allele were identified in genomic DNAs and the MAFs were 20.1% (affected skin) and 14.7% (blood), respectively. In the present case, somatic mosaicisms observed in ectodermal (epidermis) and mesodermal (dermis and blood) origin DNA can be explained by a mutational event during the early‐stage differentiation of embryonic epiblast in embryogenesis, and mutant embryonic cells somewhat preferentially differentiate to form the epidermis, rather than the dermis and blood. Disrupted intracellular Ca2+ homoeostasis through clinical deterioration together with ATP2A2 somatic mosaicism in this patient might result in transient skin eruptions.
Hyperbranched Polymer Induced Antibacterial Tree‐Like Nanofibrous Membrane for High Effective Air Filtration
Authors: Zhao Weitao , Wang Mengxuan , Yao Ying , Cheng Zhongqiu , Shen Yaxinru , Zhang Yufan , Tao Jin , Xiong Jiaqing , Cao Hongmei , Zhang Desuo
Published: February 2024

The air filtration materials with high efficiency, low resistance, and extra antibacterial property are crucial for personal health protection. Herein, a tree‐like polyvinylidene fluoride (PVDF) nanofibrous membrane with hierarchical structure (trunk fiber of 447 nm, branched fiber of 24.7 nm) and high filtration capacity is demonstrated. Specifically, 2‐hydroxypropyl trimethyl ammonium chloride terminated hyperbranched polymer (HBP‐HTC) with near‐spherical three‐dimensional molecular structure and adjustable terminal positive groups is synthesized as an additive for PVDF electrospinning to enhance the jet splitting and promote the formation of branched ultrafine nanofibers, achieving a coverage rate of branched nanofibers over 90% that is superior than small molecular quaternary ammonium salts. The branched nanofibers network enhances mechanical properties and filtration efficiency (99.995% for 0.26 µm sodium chloride particles) of the PVDF/HBP‐HTC membrane, which demonstrates reduced pressure drop (122.4 Pa) and a quality factor up to 0.083 Pa−1 on a 40 µm‐thick sample. More importantly, the numerous quaternary ammonium salt groups of HBP‐HTC deliver excellent antibacterial properties to the PVDF membranes. Bacterial inhibitive rate of 99.9% against both S. aureus and E. coli is demonstrated in a membrane with 3.0 wt% HBP‐HTC. This work provides a new strategy for development of high‐efficiency and antibacterial protection products.
Associations of genetic variants within TYK2 with pulmonary tuberculosis among Chinese population
Authors: Zhang Mingwu , Liu Zhengwei , Zhu Yelei , Wu Kunyang , Zhou Lin , Peng Ying , Pan Junhang , Chen Bin , Wang Xiaomeng , Chen Songhua
Published: February 2024

Background

Pulmonary tuberculosis (PTB) is a common infectious disease caused by mycobacterium tuberculosis (MTB) and the present study aims to explore the associations of genetic variants within tyrosine kinases 2 (TYK2) with PTB incidence.

Methods

A population‐based case control study including 168 smear‐positive PTB cases and 251 controls was conducted. Five single nucleotide polymorphisms (SNPs) including rs280520, rs91755, rs2304256, rs12720270, rs280519 located within TYK2 gene were selected and MassARRAY® MALDI‐TOF system was employed for genotyping. SPSS 19.0 was adopted for statistical analysis, non‐conditional logistic regression was conducted. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were computed to estimate their contributions to PTB incidence.

Results

In the overall study population, rs91755 TT and rs280519 AA genotypes were found to be associated with reduced PTB risk (OR = 0.34, 95% CI: 0.16–0.72; OR = 0.38, 95% CI: 0.18–0.79, respectively). After stratification for sex, we found that among the male population, rs91755TG/TT, rs12720270AG/GG and rs280519AG/AA genotypes were associated with reduced PTB risk (OR = 0.41, 95% CI: 0.21–0.80; OR = 0.44, 95% CI: 0.21–0.94; OR = 0.42, 95% CI: 0.21–0.82, respectively). After stratification for age, we found that among those aged <60 years, rs91755TT and rs280519AA genotype were associated with reduced PTB risk (OR = 0.29, 95% CI: 0.09–0.90; OR = 0.34, 95% CI: 0.11–1.08, respectively); while rs2304256AC/AA genotype was associated with increased PTB risk (OR = 2.68, 95% CI: 1.05–6.85). Haplotype analysis revealed that AGAAG and ATCGA (Combined with rs280520, rs91755, rs2304256, rs12720270 and rs280519) were associated with increased (OR = 1.54, 95% CI: 1.01–2.37) and decreased PTB risk (OR = 0.70, 95% CI: 0.52–0.94), respectively.

Conclusions

The genetic variants located within TYK2 including rs91755, rs12720270 and rs280519 were found to be associated with modified PTB risk and the SNPs had potential to be the biomarkers to predict PTB incidence risk.
Real‐world data of Brazilian adults with X‐linked hypophosphatemia (XLH) treated with burosumab and comparison with other worldwide cohorts
Authors: Vaisbich Maria Helena , de Cillo Antônio César Paulillo , Silva Bárbara Campolina C. , DÁlva Catarina Brasil , de Carvalho Érico Higino , de Almeida Juliana M. C. M. , Marques Larissa L. M. , Ribeiro Marcia , da Silva Mauro Borghi M. , de Medeiros Paula Frassinetti V. , Mendes Pedro Henrique
Published: February 2024

Background

Disease‐related variants in PHEX cause XLH by an increase of fibroblast growth factor 23 (FGF23) circulating levels, resulting in hypophosphatemia and 1,25(OH)2 vitamin D deficiency. XLH manifests in early life with rickets and persists in adulthood with osseous and extraosseous manifestations. Conventional therapy (oral phosphate and calcitriol) improves some symptoms, but evidence show that it is not completely effective, and it can lead to nephrocalcinosis (NC) and hyperparathyroidism (HPT). Burosumab (anti‐FGF23 antibody) has shown to be effective and safety in the clinical trials.

Methods

The current real‐world collaborative study evaluated genetic, clinical and laboratory data of XLH Brazilian adult patients treated with burosumab.

Results

Nineteen unrelated patients were studied. Patients reported pain, limb deformities and claudication, before burosumab initiation. 78% of them were previously treated with conventional therapy. The severity of the disease was moderate to severe (15 patients with score >5). At the baseline, 3 patients presented NC (16.7%) and 12 HPT (63%). After 16 ± 8.4 months under burosumab, we observed a significant: increase in stature (p = 0.02), in serum phosphate from 1.90 ± 0.43 to 2.67 ± 0.52 mg/dL (p = 0.02); in TmP/GFR from 1.30 ± 0.46 to 2.27 ± 0.64 mg/dL (p = 0.0001), in 1,25 (OH)2 D from 50.5 ± 23.3 to 71.1 ± 19.1 pg/mL (p = 0.03), and a decrease in iPTH from 86.8 ± 37.4 pg/mL to 66.5 ± 31.1 (p = 0.002). Nineteen variants were found (10 novel). HPT tended to develop in patients with truncated PHEX variants (p = 0.06).

Conclusions

This study confirms the efficacy and safety of burosumab on XLH adult patients observed in clinical trials. Additionally, we observed a decrease in iPTH levels in patients with moderate to severe HPT at the baseline.
Hemizygous splicing variant in CNKSR2 results in X‐linked intellectual developmental disorder
Authors: Lou Yuting , Shi Xinglei , Su Guofa , Guo Yufan , Gao Liuyan , Wang Ye , Miao Pu , Feng Jianhua
Published: February 2024

Background

Intellectual disability (ID) refers to a childhood‐onset neurodevelopmental disorder with a prevalence of approximately 1%–3%.

Methods

We performed whole exome sequencing for the patient with ID. And the splicing variant we found was validated by minigene assay.

Results

Here, we report a boy with ID caused by a variant of CNKSR2. His neurological examination revealed hypsarrhythmia via electroencephalography and a right temporal polar arachnoid cyst via brain magnetic resonance imaging. A novel splicing variant in the CNKSR2 gene (NM_014927.5, c.1657+1G>A) was discovered by exome sequencing. The variant caused a 166 bp intron retention between exons 14 and 15, which was validated by a minigene assay. The variant was not reported in public databases such as gnomAD and the Exome Aggregation Consortium.

Conclusions

The variant was predicted to be damaging to correct the translation of the CNKRS2 protein and was classified as likely pathogenic according to the ACMG guidelines.
Initial investigations into the production of triploid sunshine bass using temperature shock
Authors: Straus David L. , Abernathy Jason W. , Kelly Anita M. , Quintero Herbert E. , Freeze T. Mike , Williams Ric S.
Published: February 2024

Objective

The sunshine bass (female White Bass Morone chrysops × male Striped Bass M. saxatilis) is an important food fish raised in U.S. aquaculture. Spawning is performed by manually stripping and fertilizing White Bass eggs with Striped Bass sperm. Embryos hatch in approximately 48 h. Mature sunshine bass females can become fertile and produce viable eggs, which is problematic in commercial food-fish production; therefore, triploid fish are desired.

Methods

The present nonreplicated study incorporated three warm and three cold temperature shocks, along with three postfertilization initiation times and three exposure times for each temperature, during initial stages of incubation to induce triploidy. After exposure to temperature shocks, fertilized eggs were incubated in experimental hatching systems. The best performing cold and warm temperatures and times (and an ambient diploid control) were then used to incubate fertilized eggs in a commercial-scale trial using standard industry practices with a single batch of eggs. Larvae were stocked at about 185,000 larvae/ha (75,000 larvae/acre) in newly filled and fertilized ponds. Fry were sampled weekly and harvested at 30 days.

Result

There were 15 survivors from the pond containing fish derived from cold-shocked fertilized eggs; these individuals were tested via Coulter Counter, and no triploids were detected. Testing of 50 survivors from the pond containing fish derived from warm-shocked fertilized eggs indicated that 14% were triploid.

Conclusion

Therefore, initial trials indicate that warm temperature shock is preferable to cold shock for inducing a greater percentage of triploid sunshine bass.
Exploring the reinforcement and conductivity mechanism of K2FeO4‐modified multiwalled carbon nanotubes in carbon black/natural rubber composites
Authors: Xue Junxiu , Hao Yingjie , Qu Shengqi , Wang Chuansheng , Li Li
Published: February 2024

This study employs potassium ferrate (K2FeO4) for the oxidation treatment of multi‐walled carbon nanotubes (MWNTs) under neutral and acidic conditions. A wet flash evaporation process is utilized to prepare natural rubber/MWNTs/carbon black composites, enhancing the performance of rubber composites. The increased oxidation level of MWNTs enhances their hydrophilicity, increases the quantity of oxygen‐containing hydroxyl groups on the surface, promotes dispersion within the natural rubber matrix, and ultimately improves the performance of the rubber products. The effective dispersion of MWNTs reduces electron transport resistance, forming a favorable electron transport channel in natural rubber. Experimental results indicate that K2FeO4 achieves the highest oxidation degree and optimal performance in an acidic environment. Compared to untreated MWNTs rubber composites, the oxidized MWNTs rubber composites exhibit a 34.9% reduction in the Payne effect, a 15.7% decrease in wear, a 12.7% reduction in rolling resistance, and a two‐order‐of‐magnitude increase in conductivity. This study provides a novel approach for preparing water‐dispersible MWNTs and high‐performance rubber composites, holding potential applications in premium rubber products and conductive rubber fields.

Highlights

The wet flash refining process improved the dispersion of MWNTs.

K2FeO4 oxidation of MWNTs was enhanced under acidic conditions.

Oxidized MWNTs combined with CB to form a CB‐MWNTs‐CB filler network.

Oxidized MWNTs and CB increased the “ball‐chain” arrangement in NR.
Evaluation and prediction of tensile properties of 3D‐printed continuous carbon/Kevlar fiber‐filled composites by coaxial hybrid process
Authors: Liu Peng , Hou Zhanghao , Tian Xiaoyong , Zhu Weijun , Wang Chuanyang , He Jin , Li Dichen
Published: February 2024

Continuous hybrid fiber‐reinforced composites (CHFRCs) have excellent mechanical properties, and strong designability, and are widely used in aerospace and other fields. The development of 3D printing technology offers novel directions in the design and manufacture of complicated CHFRC components in aerospace. For this purpose, this study focused on the design and characterization of hybrid continuous fiber‐reinforced composites prepared by 3D printing. The rapid mold‐free integrated manufacturing of hybrid continuous Kevlar/carbon fiber‐reinforced composites was realized by coaxial hybrid 3D printing technology. The regulation and mechanism of tensile properties of 3D‐printed CHFRCs were elucidated. The tensile strengths of 3D‐printed CHFRCs were enhanced by up to 15.3% and 92.4%, respectively, compared to single continuous carbon and Kevlar fiber composites produced by the same process parameter. A new tensile modulus predicting method for 3D‐printed CHFRCs was proposed. It mitigated the influence of complex interfacial characteristics on mechanical property prediction and achieved precise estimation of the tensile modulus of 3D‐printed CHFRCs. This will provide the theoretical support for the application and development of 3D‐printed CHFRCs.

Highlights

Mouldless rapid manufacturing of coaxial hybrid fiber composites achieved.

The tensile strength and modulus of the fiber composites are greatly improved.

A new prediction method for the tensile modulus of 3D‐printed composites is proposed.
Investigation on enhancement of filler dispersion and prediction of mechanical behavior of hexagonal boron nitride/epoxy nanocomposites through machine learning and deep learning models
Authors: Varughese Jerrin Joy , M. S. Sreekanth
Published: February 2024

Two‐dimensional hexagonal boron nitride (hBN) based nanocomposites exhibit excellent mechanical and thermal properties for various electronics, automotive, and aerospace applications. The present work gives a novel approach to fabricating hexagonal boron nitride/epoxy nanocomposites using isopropanol and dimethyl ketone as dispersants in two different routes and to predict mechanical characteristics employing deep learning and machine learning models. Nanocomposites were fabricated by employing casting techniques with varying concentrations of hBN, spanning from 0.25 to 1 wt%, utilizing dispersing solvents. The nanocomposites were analyzed for mechanical behavior, highlighting a notable improvement in the mechanical properties at 0.5 wt% isopropanol dispersed hBN. It showcased 61% improvement in tensile strength, 38.41% increase in flexural strength, and 35.80% increase in flexural modulus respectively as compared to the pristine epoxy. The Halpin Tsai analytical model showed agreement with the elastic modulus calculated experimentally. The fractured SEM micrograph supported the improved dispersion of the hBN nanocomposite. Thermal stability of 0.5 wt% isopropanol dispersed hBN/epoxy nanocomposite revealed an improvement by 8°C at 50% degradation as compared to the pristine epoxy. Linear regression, random forest regression, support vector regression, and deep neural network (DNN) were employed to predict values. DNN proved better results by showcasing low prediction loss and high R2 values (0.99468–0.99966).

Highlights

hBN/epoxy nanocomposite with isopropanol and dimethyl ketone as dispersants.

0.5% hBN loading in isopropanol exhibited improved mechanical characteristics.

The Halpin Tsai model was employed for evaluating theoretical elastic modulus.

Improved thermal stability and filler dispersion by optimized hBN/epoxy combination.

Deep neural network showed higher R2 value and lower prediction loss.
A 3D viscoelastic–viscoplastic behavior of carbon nanotube‐reinforced polymers: Constitutive model and experimental characterization
Authors: Yazdanparast Reza , Rafiee Roham
Published: February 2024

Due to the widespread use of carbon nanotube (CNT)‐reinforced polymers in various industries, investigating the dynamic mechanical response of these materials under impact loading is of significant importance. A three‐dimensional viscoelastic (VE)–viscoplastic (VP) constitutive model for CNT/epoxy nanocomposites is developed. A proper rheological model is established using the generalized Maxwell model to represent the VE behavior and propose an exponential function to express the elasto‐VP response. Employing an empirical logarithmic relationship to estimate material properties at different strain rates, the VP behavior is modeled based on the overstress concept. The 3D numerical discretization of the proposed rate‐dependent material model is also carried out to develop a user‐defined material model (UMAT) for the commercial finite element (FE) software of Abaqus. The performed FE simulations based on the proposed rate‐dependent constitutive material can properly capture stress relaxation and hysteresis behaviors of the nanocomposites. Comparing the estimated tensile and shear stress–strain curves through developed material models with experimental measurements, an excellent agreement is observed.

Highlights

Tensile/shear properties of CNT/epoxy are measured at three strain rates.

An empirical constitutive model is proposed for any arbitrary strain rates

Viscoplastic behavior is captured based on over‐stress concept

A 3D incremental form of a viscoelastic–viscoplastic material model is developed.