bluuebunny/crossref_metadata_2025 huggingface dataset:
When we talk about Big Data, What do we really mean? Toward a more precise definition of Big Data
Authors: Han Xiaoyao , Gstrein Oskar Josef , Andrikopoulos Vasilios
Published: September 2024

Despite the lack of consensus on an official definition of Big Data, research and studies have continued to progress based on this “no consensus” stance over the years. However, the lack of a clear definition and scope for Big Data results in scientific research and communication lacking a common ground. Even with the popular “V” characteristics, Big Data remains elusive. The term is broad and is used differently in research, often referring to entirely different concepts, which is rarely stated explicitly in papers. While many studies and reviews attempt to draw a comprehensive understanding of Big Data, there has been little systematic research on the position and practical implications of the term Big Data in research environments. To address this gap, this paper presents a Systematic Literature Review (SLR) on secondary studies to provide a comprehensive overview of how Big Data is used and understood across different scientific domains. Our objective was to monitor the application of the Big Data concept in science, identify which technologies are prevalent in which fields, and investigate the discrepancies between the theoretical understanding and practical usage of the term. Our study found that various Big Data technologies are being used in different scientific fields, including machine learning algorithms, distributed computing frameworks, and other tools. These manifestations of Big Data can be classified into four major categories: abstract concepts, large datasets, machine learning techniques, and the Big Data ecosystem. This study revealed that despite the general agreement on the “V” characteristics, researchers in different scientific fields have varied implicit understandings of Big Data. These implicit understandings significantly influence the content and discussions of studies involving Big Data, although they are often not explicitly stated. We call for a clearer articulation of the meaning of Big Data in research to facilitate smoother scientific communication.
English as second language learners' practices and experiences with written feedback
Authors: Kloss Steffanie , Quintanilla Angie
Published: September 2024

Feedback remains a controversial topic for several reasons, the most relevant being the effectiveness and students' appraisal of the practice. This article explores second language learners' perceptions of feedback as a teaching and learning strategy. In second language teaching, it is necessary to know learners' previous knowledge and experiences regarding how they receive feedback, since this practice has an impact on the improvement of writing. To this end, in this research, an online questionnaire was distributed to 202 participants taking an English course to ask them about: types of feedback received, preferences regarding feedback, effectiveness of feedback and experiences with feedback. Analysis of their responses, quantitative and qualitative, shows that participants have preferences about how they expect feedback to be given, although these are not consistent with what theory suggests as effective. In addition, participants argue that their experience with feedback is related to a rather normative correction in which teachers focus on attending to microstructural aspects; therefore, students' view of textual quality is linked to normative processes. These aspects are important to address in the development of writing classes for second-language learners.
Genetic diversity and diversification patterns of puma (Puma concolor) populations in the southern end of the species distribution
Authors: Mac Allister Matias E. , Figueroa Carlos E. , Mazzei Regina , Tintorelli Ramiro G. , Acosta Diana B. , Gallo Orlando , Castillo Diego , Pinardi Emiliano , Zelada Perrone Virginia D. , Rodríguez Alejandro , Zanón Martínez Juan I. , Merino Mariano L. , Túnez Juan I. , Travaini Alejandro , Fernández Gabriela P.
Published: September 2024

The puma (Puma concolor Linnaeus, 1771) is the top predator with the widest distribution in America. Since the establishment of European settlers on the American continent, puma populations have experienced significant contractions and reductions in their original distribution. In Argentina, the management of the conflict between humans and pumas (direct persecution and habitat modification) focused on reduction or elimination methods, leading to a drastic contraction, even total eradication, of puma populations as seen in Patagonia and the eastern part of the country. Despite the lack of knowledge about puma population demographic trends, there are taxonomic issues that remain controversial and need to be resolved to implement appropriate management and conservation measures. Therefore, the aim of this study was to genetically characterize puma populations in the central-southern region of Argentina using two mitochondrial markers, evaluate their demographic history, compare our results at a macro-regional level, and discuss our findings in a conservation and management context. A total of 203 individuals were used, and a fragment of the control region and another of ND5 were sequenced. The genetic variability obtained was moderate. Substitution rates for each locus and the tMRCA were calculated from calibrated trees. In a concatenated tree, two main phylogenetic clades were identified (posterior probability = 1), although a reciprocal monophyly was not observed, with a divergence time of 228 thousand years and a 95% CI [117–363 thousand years]. When evaluating population structuring, three genetic clusters were found, one characteristic of the Patagonian region and the others in the central part of the country. Calculating the ФST values for pairs resulted in significant structuring between Patagonia and the rest of the populations, suggesting the arid diagonal as a possible barrier to gene flow. When evaluating the demographic history, neutrality tests would support a recent expansion in Patagonia. These findings are crucial in defining two distinct Management Units (MUs) in the southern part of puma distribution and providing valuable information for management and conservation measures for the species.
BLESS: bagged logistic regression for biomarker identification
Authors: Gardiner Kyle , Zhang Xuekui , Xing Li
Published: September 2024

The traditional single nucleotide polymorphism (SNP)-wise approach in genome-wide association studies is focused on examining the marginal association between each SNP with the outcome separately and applying multiple testing adjustments to the resulting p-values to reduce false positives. However, the approach suffers a lack of power in identifying biomarkers. We design an ensemble machine learning approach to aggregate results from logistic regression models based on multiple subsamples, which helps to identify biomarkers from high-dimensional genomic data. We use different methods to analyze a genome-wide association study from the Alzheimer’s Disease Neuroimaging Initiative. The SNP-wise approach does not identify any significant signal, while our novel approach provides a list of ranked SNPs associated with the cognitive functions of interests.
Environment and systemic autoimmune rheumatic diseases: an overview and future directions
Authors: Choi May Y. , Costenbader Karen H. , Fritzler Marvin J.
Published: September 2024

Introduction

Despite progress in our understanding of disease pathogenesis for systemic autoimmune rheumatic diseases (SARD), these diseases are still associated with high morbidity, disability, and mortality. Much of the strongest evidence to date implicating environmental factors in the development of autoimmunity has been based on well-established, large, longitudinal prospective cohort studies.

Methods

Herein, we review the current state of knowledge on known environmental factors associated with the development of SARD and potential areas for future research.

Results

The risk attributable to any particular environmental factor ranges from 10-200%, but exposures are likely synergistic in altering the immune system in a complex interplay of epigenetics, hormonal factors, and the microbiome leading to systemic inflammation and eventual organ damage. To reduce or forestall the progression of autoimmunity, a better understanding of disease pathogenesis is still needed.

Conclusion

Owing to the complexity and multifactorial nature of autoimmune disease, machine learning, a type of artificial intelligence, is increasingly utilized as an approach to analyzing large datasets. Future studies that identify patients who are at high risk of developing autoimmune diseases for prevention trials are needed.
Case report: Timing of eculizumab treatment in catastrophic antiphospholipid syndrome
Authors: Carrara Camillo , Mataj Blerina , Gastoldi Sara , Ruggenenti Piero , Sciascia Savino , Roccatello Dario
Published: September 2024

Catastrophic antiphospholipid syndrome (CAPS) is a life-threatening condition of small-vessel thrombosis with acute multiple-organ involvement and visceral damage. In this report, we present a case of a patient with CAPS who is refractory to conventional therapy. For the first time in a patient with CAPS, marked C5b-9 formation was demonstrated on microvascular endothelial cells, suggesting the usefulness of therapeutic complement inhibition in this setting. Eculizumab, a C5-blocking monoclonal antibody, is remarkably effective in the treatment of different forms of thrombotic microangiopathy by controlling complement system hyperactivation. It halted the “thrombotic storm” and promptly achieved full recovery of thrombocytopenia. However, kidney function did not recover, possibly because eculizumab was administered too late. Conceivably, the timing of treatment is crucial to achieving disease remission before irreversible structural damage occurs in target organs, thereby preventing their complete functional recovery.
Flexural behavior of a UHPC slab - FRP truss hybrid beam implementing a novel FRP joint and tailored shear connector
Authors: Zhou Jian , Feng Yu , Huang Xiangzhi , Wang Jingquan , Zhong Rui
Published: September 2024

A full-scale hybrid beam consisting of a UHPC slab and FRP truss girder was fabricated. The novel side plate FRP joint characterized with improved load-carrying capacity, stiffness, and preferred failure mode along with the tailored shear connector validated in the previous studies of the authors were adopted. Its flexural performance was characterized and compared with that of hybrid beams employing NC or UHPC slab but I-profile girder. The failure of the proposed hybrid beam subjected to bending was pseudo ductile whereas those of the other two hybrid beams were brittle. The load-carrying capacity and stiffness of the proposed hybrid beam outperformed the other two hybrid beams with comparable dimensions and material properties.
Revealing alterations in heart rate fluctuations during the progression of Chagas disease
Authors: Defeo Magdalena M. , Delaplace Laura A. , Goin Juan C. , Tersigni Carina , Garavaglia Leopoldo , Irurzun Isabel M.
Published: September 2024

Introduction

The heart rate variability (HRV) continually evolves throughout life, reflecting modifications in the architecture of the sinoatrial node (SAN) and in the regulation of heart rate by the autonomic nervous system (ANS). Both can be considerably affected by Chagas disease, causing important changes in the complex nature of HRV. We aim to evaluate the ability of an index based on the false nearest neighbors method (FN10) to reflect these changes during disease progression.

Methods

We perform a retrospective, descriptive, and cross-sectional study analyzing HRV time series of participants with Chagas disease. We determine the dependence of FN10 on age and sex in a healthy population, and then evaluate FN10 in individuals with Chagas disease.

Results and discussion

In the healthy population, FN10 has a scaling behavior with age, which is independent of sex. In Chagas disease, some individuals show FN10 values significantly above those seen in the healthy population. We relate the findings to the pathophysiological mechanisms that determine the progression of the disease. The results indicate that FN10 may be a candidate prognostic biomarker for heart disease.
Case report: Longitudinal evaluation and treatment of a melanoma-associated retinopathy patient
Authors: Mosavi-Hecht Ryan M. , Yang Paul , Heyer Barrett , Rosenberg Christopher R. , White Elizabeth , Berry Elizabeth G. , Duvoisin Robert M. , Morgans Catherine W.
Published: September 2024

Melanoma-associated retinopathy (MAR) is a paraneoplastic syndrome associated with cutaneous metastatic melanoma in which patients develop vision deficits that include reduced night vision, poor contrast sensitivity, and photopsia. MAR is caused by autoantibodies targeting TRPM1, an ion channel found in melanocytes and retinal ON-bipolar cells (ON-BCs). The visual symptoms arise when TRPM1 autoantibodies enter ON-BCs and block the function of TRPM1, thus detection of TRPM1 autoantibodies in patient serum is a key criterion in diagnosing MAR. Electroretinograms are used to measure the impact of TRPM1 autoantibodies on ON-BC function and represent another important diagnostic tool for MAR. To date, MAR case reports have included one or both diagnostic components, but only for a single time point in the course of a patient’s disease. Here, we report a case of MAR supported by longitudinal analysis of serum autoantibody detection, visual function, ocular inflammation, vascular integrity, and response to slow-release intraocular corticosteroids. Integrating these data with the patient’s oncological and ophthalmological records reveals novel insights regarding MAR pathogenesis, progression, and treatment, which may inform new research and expand our collective understanding of the disease. In brief, we find TRPM1 autoantibodies can disrupt vision even when serum levels are barely detectable by western blot and immunohistochemistry; intraocular dexamethasone treatment alleviates MAR visual symptoms despite high levels of circulating TRPM1 autoantibodies, implicating antibody access to the retina as a key factor in MAR pathogenesis. Elevated inflammatory cytokine levels in the patient’s eyes may be responsible for the observed damage to the blood-retinal barrier and subsequent entry of autoantibodies into the retina.
Antarctic lake viromes reveal potential virus associated influences on nutrient cycling in ice-covered lakes
Authors: Robinson David , Morgan-Kiss Rachael M. , Wang Zhong , Takacs-Vesbach Cristina
Published: September 2024

The McMurdo Dry Valleys (MDVs) of Antarctica are a mosaic of extreme habitats which are dominated by microbial life. The MDVs include glacial melt holes, streams, lakes, and soils, which are interconnected through the transfer of energy and flux of inorganic and organic material via wind and hydrology. For the first time, we provide new data on the viral community structure and function in the MDVs through metagenomics of the planktonic and benthic mat communities of Lakes Bonney and Fryxell. Viral taxonomic diversity was compared across lakes and ecological function was investigated by characterizing auxiliary metabolic genes (AMGs) and predicting viral hosts. Our data suggest that viral communities differed between the lakes and among sites: these differences were connected to microbial host communities. AMGs were associated with the potential augmentation of multiple biogeochemical processes in host, most notably with phosphorus acquisition, organic nitrogen acquisition, sulfur oxidation, and photosynthesis. Viral genome abundances containing AMGs differed between the lakes and microbial mats, indicating site specialization. Using procrustes analysis, we also identified significant coupling between viral and bacterial communities (p = 0.001). Finally, host predictions indicate viral host preference among the assembled viromes. Collectively, our data show that: (i) viruses are uniquely distributed through the McMurdo Dry Valley lakes, (ii) their AMGs can contribute to overcoming host nutrient limitation and, (iii) viral and bacterial MDV communities are tightly coupled.
Unveiling the hidden link between oral flora and colorectal cancer: a bidirectional Mendelian randomization analysis and meta-analysis
Authors: Zhang Zexin , Wu Wenfeng , Xiahou Zhikai , Song Yafeng
Published: September 2024

Objective

The impact of oral flora on intestinal micro-environment and related diseases has been widely reported, but its role in colorectal cancer (CRC) remains elusive.

Methods

A Two-sample Mendelian Randomization (TSMR) analysis was conducted to explore the causal relationship between oral flora and CRC, with the Inverse-Variance Weighted (IVW) serving as the primary method for evaluating this causal relationship. Data on the oral flora were derived from human samples from the tongue and saliva, with all cohort populations originating from Asia. In addition, 2 independent external cohorts were used to validate the positive results and perform a meta-analysis of the final results. Lastly, to balance the effect of positive oral flora on CRC, a Multivariate Mendelian Randomization (MVMR) analysis was also performed.

Results

The TSMR analysis revealed that 17 oral flora may have a causal relationship with CRC in the training cohort. Among them, s Haemophilus, g Fusobacterium, s Metamycoplasma salivarium, and s Mogibacterium pumilum were validated in two testing cohorts. Intriguingly, after integrating the results of the 3 cohorts for meta-analysis, 16 associations remained significant. In the training cohort, MVMR analysis demonstrated that s Capnocytophaga ochracea and s Metamycoplasma salivarium retained statistical significance. In one of the testing cohorts, s Metamycoplasma salivarium, s Streptococcus anginosus, and s Streptococcus sanguinis retained statistical significance. In the other testing cohort, s Metamycoplasma salivarium, s Haemophilus, and g Fusobacterium remained significant.

Conclusion

s Haemophilus, g Fusobacterium, s Metamycoplasma salivarium, and s Mogibacterium pumilum have a solid causal relationship with the occurrence and development of CRC.
Crystallin β-b2 promotes retinal ganglion cell protection in experimental autoimmune uveoretinitis
Authors: Bauer Dirk , Böhm Michael R. R. , Wu Xiaoyu , Wang Bo , Jalilvand Tida Viola , Busch Martin , Kasper Maren , Brockhaus Katrin , Wildschütz Lena , Melkonyan Harutyun , Laffer Björn , Meyer Zu Hörste Gerd , Heiligenhaus Arnd , Thanos Solon
Published: September 2024

Crystallin βb2 (crybb2) is upregulated in regenerating retinas and in various pathological conditions of the retina, including uveoretinitis. However, the role of crybb2 in this disease is largely unknown. Therefore, we used recombinant crybb2 (rcrybb2) as intravitreal treatment of B10.RIII mice prior to immunization with human interphotoreceptor retinoid-binding protein peptide 161–180 (hIRBPp161-180) in complete Freund’s adjuvant (CFA) and concomitant injection of pertussis toxin (PTX) to induce experimental autoimmune uveoretinitis (EAU). In naïve mice, more beta III-tubulin (TUBB3) + and RNA-binding protein with multiple splicing (RBPMS) + cells were found in the ganglion cell layer of the retina than in EAU eyes, suggesting a loss of retinal ganglion cells (RGC) during the development of EAU. At the same time, the number of glial fibrillary acidic protein (GFAP) + cells increased in EAU eyes. RGCs were better protected in EAU eyes treated with rcrybb2, while the number of GFAP+ cells decreased. However, in retinal flatmounts, both retinal ganglion cells and retinal endothelial cells stained positive for TUBB3, indicating that TUBB3 is present in naïve B10.RIII mouse eyes not exclusive to RGCs. A significant decline in the number of RBPMS-positive retinal ganglion cells was observed in retinal flatmounts from EAU retinas in comparison to naïve retinas or EAU retinas with intravitreal rcrybb2 treatment. Whereas no significant decrease in TUBB3 levels was detected using Western blot and RT-qPCR, GFAP level, as a marker for astrocytes, increased in EAU mice compared to naïve mice. Level of Bax and Bcl2 in the retina was altered by treatment, suggesting better cell survival and inhibition of apoptosis. Furthermore, our histologic observations of the eyes showed no change in the incidence and severity of EAU, nor was the immune response affected by intravitreal rcrybb2 treatment. Taken together, these results suggest that intravitreal injection of rcrybb2 reduces retinal RGC death during the course of EAU, independent of local or systemic autoimmune responses. In the future, treating posterior uveitis with rcrybb2 to protect RGCs may offer a promising novel therapeutic strategy.
A systematic review of post-stroke fatigue measurement scale based on COSMIN guidelines
Authors: Wu Lingsha , Jin Haiqin
Published: September 2024

Objective

This study aimed to evaluate the methodological quality and measurement attribute quality of the post-stroke fatigue measurement scale, so as to provide some basis for the clinical application and promotion of related scales.

Methods

The Chinese National Knowledge Infrastructure, the Wanfang Data Knowledge Service Platform, the China Science and Technology Journal Database, the Chinese Medical Journal Full-text Database, the Chinese Biology Medicine, PubMed, Embase, Medline, the Cochrane Library, the Web of Science, CINAHL, and PsycINFO databases were searched for literature on the post-stroke fatigue measurement scale up to June 2022. Literature screening and data extraction were carried out independently by two researchers, and in the case of disagreement, discussions were held with a third investigator to reach an agreement, and the COSMIN checklist and criteria were used to systematically evaluate the attributes of the measurement scale.

Results

A total of 17 studies were included, involving 10 post-stroke fatigue measurement scales. The content validity of FSS-7, FACIT-F, NRS-FRS, and MFI-20 was “not mentioned,” and the remaining scales were “uncertain.” In terms of construct validity, MFS was “adequate”; FSS-7, FACIT-F, and NRS-FRS were “not mentioned”; and the remaining scales were “uncertain.” In terms of internal consistency, NRS-FRS was “not mentioned”; FSS and MFS were “adequate”; and the remaining scales were “uncertain.” In terms of hypothesis testing, CIS and FACIT-F were “not mentioned,” NRS-FRS was “adequate,” and the remaining scales were “uncertain.” The stability of FSS-7, CIS, FACIT-F, and MFI-20 was “not mentioned,” and the remaining scales were “adequate.” The cross-cultural validity of FSS-7 was “adequate,” and the remaining scales were “not mentioned.” All 10 scales were given a recommendation grade of “B”.

Conclusion

For the time being, the FSS can be recommended to measure post-stroke fatigue, but it still needs to be tested for more relevant measurement properties in order to gain more support from high-quality evidence. For a more comprehensive assessment of post-stroke fatigue, the FIS, FAS, and NFI-stroke should perhaps be considered, as the FSS is a one-dimensional scale that can only measure physical fatigue in patients; however, these scales also need to be tested for more relevant measurement properties to verify their clinical applicability.
Cardiac thrombus detected by cardiac computed tomography angiography in patients with acute ischemic stroke: a meta-analysis
Authors: Xu Buyun , Du Ye , Yu Zhangjie , Sun Yong , Xiang Meixiang
Published: September 2024

Background

Detecting cardiac thrombus in patients with acute ischemic stroke is crucial in determine stroke etiology and predict prognosis. However, the prevalence of cardiac thrombus in patients with acute ischemic stroke is unclear.

Object

This study aimed to evaluate the prevalence of cardiac thrombus detected by cardiac computed tomography angiography (CCTA) in patients with acute ischemic stroke through a meta-analysis.

Methods

Embase, Web of Science, MEDLINE, and CENTRAL were searched from January 1, 2000, to May 1, 2024. We included observational studies enrolling patients who underwent CCTA within 1 month following acute ischemic stroke, and reporting the incidence of cardiac thrombi on CCTA. Meta-analysis was performed using random effects models.

Results

Twenty-six studies involving 4,516 patients were identified. The pooled prevalence of cardiac thrombus detected on CCTA in patients with acute ischemic stroke was 0.08 (95% confidence interval [CI]: 0.06–0.11). Inter-study heterogeneity was high (I2 = 88%). Among stroke type, the prevalence of atrial fibrillation, timing of CCTA and CCTA technology, the prevalence of atrial fibrillation was the only factor associated with cardiac thrombi prevalence detected by CCTA. However, atrial fibrillation was not documented in 41.5% of the patients with cardiac thrombi.

Conclusion

CCTA is a useful non-invasive imaging approach for detecting cardiac thrombus in patients with acute ischemic stroke, which might be helpful to determine the stroke etiology.
The degenerate coding of psychometric profiles through functional connectivity archetypes
Authors: Di Plinio Simone , Northoff Georg , Ebisch Sjoerd
Published: September 2024

Introduction

Degeneracy in the brain-behavior code refers to the brain’s ability to utilize different neural configurations to support similar functions, reflecting its adaptability and robustness. This study aims to explore degeneracy by investigating the non-linear associations between psychometric profiles and resting-state functional connectivity (RSFC).

Methods

The study analyzed RSFC data from 500 subjects to uncover the underlying neural configurations associated with various psychometric outcomes. Self-organized maps (SOM), a type of unsupervised machine learning algorithm, were employed to cluster the RSFC data. And identify distinct archetypal connectivity profiles characterized by unique within- and between-network connectivity patterns.

Results

The clustering analysis using SOM revealed several distinct archetypal connectivity profiles within the RSFC data. Each archetype exhibited unique connectivity patterns that correlated with various cognitive, physical, and socioemotional outcomes. Notably, the interaction between different SOM dimensions was significantly associated with specific psychometric profiles.

Discussion

This study underscores the complexity of brain-behavior interactions and the brain’s capacity for degeneracy, where different neural configurations can lead to similar behavioral outcomes. These findings highlight the existence of multiple brain architectures capable of producing similar behavioral outcomes, illustrating the concept of neural degeneracy, and advance our understanding of neural degeneracy and its implications for cognitive and emotional health.
Asymmetry and rehabilitation of the subjective visual vertical in unilateral vestibular hypofunction patients
Authors: Haijoub Souad , Hautefort Charlotte , Toupet Michel , Lacour Michel
Published: September 2024

Aims

Patients with acute unilateral peripheral vestibular hypofunction (AUVP) show postural, ocular motor, and perceptive signs on the diseased side. The subjective visual vertical (SVV) test measures the perceived bias in earth-vertical orientation with a laser line in darkness. This study was aimed at (1) examining whether SVV bias could depend on preset line orientation and angles, and (2) investigating whether vestibular rehabilitation (VR) can improve SVV normalization. To our knowledge, SVV symmetry/asymmetry and impact of VR on SVV normalization have never been documented in the literature.

Participants and methods

We investigated the SVV bias in a retrospective study (Study 1: n = 42 AUVP patients) comparing the data recorded for line orientation to the ipsilateral and contralateral sides at preset angles of 15° and 30°. We investigated the effects of VR on SVV normalization in a prospective study (Study 2: n = 20 AUPV patients) in which patients were tilted in the roll plane using a support tilted to the hypofunction side with the same amplitude as the SVV bias. This VR protocol was performed twice a week for 4 weeks. Supplementary data on body weight distribution and medio-lateral position of the center of foot pressure (CoP) were obtained using posturography recordings.

Results

Study 1 showed asymmetrical values of the SVV bias. On average, the SVV errors were significantly higher for ipsilateral compared to contralateral line orientation (6.98° ± 3.7° vs. 4.95° ± 3.6°; p < 0.0001), and for 30° compared to 15° preset angle (6.76° ± 4.2° vs. 5.66° ± 3.3°; p < 0.0001). Study 2 showed a fast SVV normalization with VR. Non-pathological SVV bias (below ±2°) was found after only 3 to 5 VR sessions while pathological SVV values were still observed at the same time after symptoms onset in patients without VR (1.25° ± 1.46° vs. 4.32° ± 2.81°, respectively; p < 0.0001). A close temporal correlation was observed in the time course of body weight distribution, mediolateral CoP position, and SVV bias over time, suggesting beneficial effects of the VR protocol at both the perceptive and postural levels.

Conclusion

We recommend routine assessment of the ipsilateral and contralateral SVV bias separately for a better evaluation of otolith organs imbalance that can trigger chronic instability and dizziness. The SVV bias and the postural impairment caused by the imbalanced otolith inputs after unilateral vestibular loss can be rapidly normalized by tilting the patients in the roll plane, an additional means in the physiotherapist’s toolbox. The protocol likely reweights the visual and somatosensory cues involved in the perception of verticality.
Whole exome sequencing of human papillomavirus-related multiphenotypic sinonasal carcinoma: a case report
Authors: Cubides-Córdoba María Camila , Sánchez-Fernández Paula , Mendoza-Pacas Guillermo E. , Cabal Virginia N. , García-Marín Rocío , Lorenzo-Guerra Sara Lucila , García-Velasco Fabián , Hermsen Mario A. , Llorente José Luis
Published: September 2024

Human Papillomavirus (HPV) related Multiphenotypic Sinonasal Carcinoma (HMSC) is a rare tumor with features of both atypical squamous cell and adenoid cystic carcinoma, making diagnosis challenging. Approximately 80% of HMSC cases carries HPV type 33 followed by type 35. We present a patient with HMSC. Pathological classification was aided by immunohistochemistry (IHC). The presence of HPV-DNA was tested using PCR and HPV E6/E7 expression by RNA in situ hybridization (RNA ISH). Whole exome sequencing (WES) was used to identify somatic gene mutations and copy number alterations. A 55-year-old male presented with an HMSC in the right nostril. Histological examination showed a solid basaloid subtype with mucinous spaces and ductal structures. IHC showed positive staining for SOX-10, SMA, p40, p63, PanCK, CK8 and MYB. Diffuse positive staining for p16 was observed and PCR and RNA ISH indicated the presence of HPV type 35. The patient was treated with endoscopic surgery and radiotherapy and is currently alive and recurrence-free after 16 months of follow-up. WES revealed 38 somatic sequence variants and several chromosomal regions with copy number alterations, including a copy number gain at 6q23 where MYB is located. EP300, ZNF22, ZNF609 and LRIG3 are some of the genes whose mutations were indicated as probably pathogenic. We did not find mutations predictive for drug response according to the ESMO Scale for Clinical Actionability of Molecular Targets database. This is the first report of WES analysis of an HMSC, in this case associated with HPV type 35. The detected mutation in EP300 and the overexpression of MYB may serve as molecular targets for personalized therapy.
Whole-exome sequencing reveals Kawasaki disease susceptibility genes and their association with coronary artery lesion
Authors: Wang Yazhou , Chen Xuepeng , Zhang Dufei , Chen Renwei , Alifu Ailixiati
Published: September 2024

Objective

This study aimed to explore Kawasaki disease (KD) susceptibility genes and their complications like coronary artery lesions (CAL) using whole exome sequencing (WES).

Methods

Between April 1, 2021, and December 31, 2022, our study included 55 pediatric patients diagnosed KD at our center, alongside a cohort of healthy children who sought medical care at our institution during the same timeframe. We extracted peripheral blood DNA from all participants and employed the advanced high-throughput Illumina Next-Generation Sequencing technology for comprehensive analysis. Through bioinformatics evaluation, we identified potential susceptibility genes. Moreover, from the 55 KD patients, we selected 15 for the CAL group and 40 for the non-CAL group. We aimed to investigate whether there were significant differences in the allele frequencies of the targeted susceptibility genes between these subgroups, to explore the risk alleles associated with the development of CAL in KD.

Results

HLA-DRB1 rs17882084 and IL6ST rs781455079 genotypes and alleles differed significantly between KD and non-KD (P < 0.05). No differences existed for IL17RC rs143781415 and VEGFB rs776229557 (P > 0.05). No differences in HLA-DRB1 rs17882084, IL6ST rs781455079, and VEGFB rs776229557 genotypes existed between CAL and non-CAL groups (P > 0.05). However, the IL17RC rs143781415 genotype differed significantly between them (P < 0.05).

Conclusions

HLA-DRB1 rs17882084 and IL6ST rs781455079 genotypes may be potential KD susceptibility gene candidates. Specifically, HLA-DRB1 rs17882084 GA genotype and A allele, and IL6ST rs781455079 TC genotype and C allele may increase KD risk. Additionally, the IL17RC rs143781415 genotype may increase CAL risk in KD patients.
Novel evidence of CNV deletion in KCTD13 related to the severity of isolated hypospadias in Chinese population
Authors: Chen Yijing , Zhou Lijun , Chen Fang , Chen Zhongzhong , Huang Yichen , Lv Yiqing , Wu Min , Lin Xiaoling , Xie Hua
Published: September 2024

Background

CNV in KCTD13 has been identified to influence androgen receptor function via its changes in gene dosage, which might contribute to hypospadias. However, there is lack of population-level evidence to assess the contribution of KCTD13 CNV to hypospadias.

Methods

349 isolated hypospadias patients were recruited and their genotyping was performed using real-time qPCR. We use Database of Genomic Variants (DGV) and CNV calls from SNP-array intensity data in 1,008 Chinese healthy men as reference.

Results

11.17% of patients were identified to have KCTD13 CNV deletion, significantly higher than 0.05% in DGV (P < 0.001), but no cases found to have CNV duplication. Meanwhile, no CNV calls encompassing KCTD13 region were detected in Chinese healthy men. Incidence of KCTD13 CNV deletion was significantly increased with the severity of hypospadias, P_trend = 9.00 × 10−6. Compared to distal hypospadias, ORs for the proximal and midshaft were 10.07 (2.91–34.84) and 6.08 (1.69–21.84) respectively. In addition, the association between genital characteristics (stretched penile length and glans width) and KCTD13 CNV showed no significance in hypospadias children (P > 0.05).

Conclusions

We demonstrate KCTD13 CNV deletion is strongly associated with hypospadias and its severity, but duplication is not, characterizing KCTD13 genetic variation in more detail than previously described.
MOG-antibody-associated transverse myelitis with the H-sign and unusual MRI enhancement: a case report and literature review
Authors: Zhang Lu , Feng Chuan , He Ling , Huang Shi-Yu , Liu Xin-Yin , Fan Xiao
Published: September 2024

Transverse myelitis is the second most common symptoms in myelin oligodendrocyte antibody-associated diseases (MOGAD), causing obvious clinical manifestation. T2-hyperintense lesions mainly restricted to the gray matter in the spinal cord on axial magnetic resonance imaging, produce the H-sign, which is thought to be the typical finding of MOGAD. Contrast enhancement can be observed in some cases of myelin oligodendrocyte antibody-associated transverse myelitis (MOG-TM). However, reports on the enhancement pattern associated with the H-sign are rarely seen. In this report, we describe a case of pediatric MOG-TM in which the H-sign was observed without enhancement, while the surrounding white matter exhibited enhancement. This pattern contradicts the previously observed gray matter involvement. Then we reviewed the literatures of myelin oligodendrocyte antibody-positive myelitis to focus on the neuroimaging features and discuss the implications of our finding.
Potentially inappropriate prescribing in polymedicated older adults with atrial fibrillation and multimorbidity: a Swedish national register-based cohort study
Authors: Amrouch Cheima , Vetrano Davide Liborio , Damiano Cecilia , Dai Lu , Calderón-Larrañaga Amaia , Grymonprez Maxim , Proietti Marco , Lip Gregory Y. H. , Johnsen Søren P. , Wastesson Jonas W. , Johnell Kristina , De Smedt Delphine , Petrovic Mirko
Published: September 2024

Introduction

Current research on potentially inappropriate prescribing (PIP) in polymedicated older adults with atrial fibrillation (AF) and multimorbidity is predominantly focused on PIP of oral anticoagulants (OAC). Our study aimed to assess (i) the overall prevalence of PIP in older multimorbid adults with AF, (ii) potential associated factors of PIP, and (iii) the association of PIP with adverse health outcomes in a nationwide sample of Swedish older adults.

Methods

Swedish national registries were linked to establish a cohort with a 2-year follow-up of older adults (≥65y) who, on 1 January 2017, had a diagnosis of AF and had at least one comorbidity (n = 203,042). PIP was assessed using the reduced STOPP/START version 2 screening tool. The STOPP criteria identify potentially inappropriate prescribed medications (PIM), while the START criteria identify potential prescribing omissions (PPO). PIP is identified as having at least one PIM and/or PPO. Cox regression analyses were conducted to examine the association between PIP and adverse health outcomes: mortality, hospitalisation, stroke, bleeding, and falls.

Results

PIP was highly prevalent in older adults with AF, with both polypharmacy (69.6%) and excessive polypharmacy (85.9%). In the study population, benzodiazepines (22.9%), hypnotic Z-medications (17.8%) and analgesics (8.7%) were the most frequent PIM. Anticoagulants (34.3%), statins (11.1%), vitamin D and calcium (13.4%) were the most frequent PPO. Demographic factors and polypharmacy were associated with different PIM and PPO categories, with the nature of these associations differing based on the specific type of PIM and PPO. The co-occurrence of PIM and PPO, compared to appropriate prescribing, was associated with an increased risk of adverse health outcomes compared to all appropriately prescribed medications: cardiovascular (CV) (Hazard ratio (HR) [95% confidence interval] = 1.97 [1.88–2.07]) and overall mortality (HR = 2.09 [2.03–2.16]), CV (HR = 1.34 [1.30–1.37]) and overall hospitalisation (HR = 1.48 [1.46–1.51]), stroke (HR = 1.93 [1.78–2.10]), bleeding (HR = 1.10 [1.01–1.21]), and falls (HR = 1.63 [1.56–1.71]).

Conclusion

The present study reports a high prevalence of PIP in multimorbid polymedicated older adults with AF. Additionally, a nuanced relationship between prescribing patterns, patient characteristics, and adverse health outcomes was observed. These findings emphasise the importance of implementing tailored interventions to optimise medication management in this patient population.
Investigating the influence of varied ratios of red and far-red light on lettuce (Lactuca sativa): effects on growth, photosynthetic characteristics and chlorophyll fluorescence
Authors: Bi Xueting , Xu Hong , Yang Chaowei , Zhang Haoran , Li Wei , Su Wei , Zheng Mingtao , Lei Bingfu
Published: September 2024

Far red photon flux accelerates photosynthetic electron transfer rates through photosynthetic pigments, influencing various biological processes. In this study, we investigated the impact of differing red and far-red light ratios on plant growth using LED lamps with different wavelengths and Ca1.8Mg1.2Al2Ge3O12:0.03Cr3+ phosphor materials. The control group (CK) consisted of a plant growth special lamp with 450 nm blue light + 650 nm red light. Four treatments were established: F1 (650 nm red light), F2 (CK + 730 nm far-red light in a 3:2 ratio), F3 (650 nm red light + 730 nm far-red light in a 3:2 ratio), and F4 (CK + phosphor-converted far-red LED in a 3:2 ratio). The study assessed changes in red and far-red light ratios and their impact on the growth morphology, photosynthetic characteristics, fluorescence characteristics, stomatal status, and nutritional quality of cream lettuce. The results revealed that the F3 light treatment exhibited superior growth characteristics and quality compared to the CK treatment. Notably, leaf area, aboveground fresh weight, vitamin C content, and total soluble sugar significantly increased. Additionally, the addition of far-red light resulted in an increase in stomatal density and size, and the F3 treatments were accompanied by increases in net photosynthetic rate (Pn), transpiration rate (Tr), intercellular CO2 concentration (Ci), and stomatal conductance (Gs). The results demonstrated that the F3 treatment, with its optimal red-to-far-red light ratio, promoted plant growth and photosynthetic characteristics. This indicates its suitability for supplementing artificial light sources in plant factories and greenhouses.
Excessive boron fertilization-induced toxicity is related to boron transport in field-grown pomelo trees
Authors: Luo Ziwei , Zhang Lijun , Hu Wenlang , Wang Yuwen , Tao Jingxia , Jia Yamin , Miao Ruizhen , Chen Li-Song , Guo Jiuxin
Published: September 2024

Boron (B) is an essential micronutrient for plant growth and development; however, the process of B toxicity in citrus production is still poorly understood. We proposed a hypothesis that B toxicity in citrus trees is related to the characteristics of B transport from soil to leaf or fruit. For this, a field experiment was conducted for two treatments, control (B free or without B) and B fertilizer treatment (100 g Na2B4O7·10H2O plant−1), to investigate the effects on plant growth, nutrient uptake, fruit yield and quality, and B transport in 10-year-old pomelo trees [Citrus grandis (L.) Osbeck cv. Guanximiyou]. Our results showed that excess B fertilization directly led to B toxicity in pomelo trees by dramatically increasing soil total B and water-soluble B contents. B toxicity induced interveinal chlorosis in leaves and decreased leaf biomass and function, resulting in a decreased 45.3% fruit yield by reducing 30.6% fruit load and 21.4% single fruit weight. Also, B toxicity induced changes in mineral elements between leaf positions and fruit parts, in which the concentrations of B, potassium, and magnesium were increased while those of nitrogen and iron were decreased. Under B toxicity conditions, fruit quality parameters of total soluble solids (TSS), TSS/titratable acidity (TA), total soluble sugar, sucrose, pH, vitamin C, and total phenol contents decreased, which were regulated by the lower carbohydrate production in new leaves and the lower transport capacity in old leaves. Moreover, B toxicity significantly increased the transfer factor and bio-concentration factor of B in pomelo plants, with higher levels in leaf organs than in fruit organs. Taken together, excess B fertilization-induced B toxicity in pomelo trees, with induced growth inhibition and nutrient disorder, results in reduced fruit yield and quality, which are related to B transport from soil to organs. The findings of this study highlight the understanding of B toxicity in citrus plants and strengthen B management in pomelo production for high yield and high quality.
Burnout and moral injuries after foreign deployment among medical personnel of the German armed forces: a pre-post study
Authors: Langner Franziska , Börke Anna Katharina , Muschner Patric , Muther Maria , Reichelt Andreas , Willmund Gerd-Dieter , Wesemann Ulrich , Zimmermann Peter Lutz , Schönsee Isabel
Published: September 2024

Introduction

Given a high amount of workplace stressors, burnout syndrome, as a depression-related syndrome, is highly relevant for medical service soldiers. This study aims to examine their effects with regard to moral injuries and personal values following foreign deployment.

Materials and methods

This longitudinal study included 91 soldiers of the German Armed Forces Medical Service. Participants completed the Maslach Burnout Inventory (MBI) and the Portrait-Value-Questionnaire (PVQ) before and after a foreign deployment as well as the Moral Injury Scale (SMBE) after deployment. Analysis has been conducted using t-tests to assess potential changes in MBI and PVQ scales between pre-test - t1 (2-4 weeks before deployment) and post-test – t2 (up to 6 months after deployment). In addition, correlations were examined between moral injuries (MI) after deployment and MBI scores at t1 and t2 as well as between personal values (PVQ t1) and MBI scores at t1 and t2.

Results

The MBI subscales showed mild to moderate burnout symptoms at both pre- and post-tests, with a slight deterioration during the study period, albeit not significant. There were no significant mean differences in PVQ between measurement points. Nevertheless, PVQ self-direction and tradition at t1 correlated negatively with MBI INV at t2 (PVQ SD r = -.21, p = .043) and MBI PA at t2 (PVQ TR r = -.23, p = .027). Furthermore, the subscale PVQ power at t1 correlated positively with MBI PA at t2 (PVQ PO r = .28, p = .006), meanwhile PVQ universalism at t1 correlated positively with MBI INV at t1 (PVQ UN r = .25, p = .018). Furthermore, positive correlations were found between moral injuries at t2 (SMBE total score, SMBE_Sub1, SMBE_Sub2) and MBI subscales Emotional Exhaustion (EE; r = -.54, p = .001), Depersonalization (DP; r = .38, p = .001), and Involvement (INV; r = .30, p = .004) before and after the deployment period. No correlation was found between MI and MBI subscale Personal Accomplishment (PA).

Conclusion

The results indicate that medical service soldiers exhibit mild to moderate burnout symptoms even before deployment. Significant associations between moral injuries and burnout were found in 3 out of 4 MBI subscales (EE, DP, INV). There was a significant association with a stronger moral injury and higher burnout levels, persisting both before and after the study period. Furthermore, our results suggest that personal value orientations might be meaningful predictors of burnout. Hence, causal questions regarding general work stress among medical service soldiers should be further explored in more detailed studies. Further research could lay the foundation for future approaches in psychotherapy as well as primary and secondary prevention in this field.