bluuebunny/crossref_metadata_2025_split huggingface dataset:
Expanding the molecular landscape of childhood apraxia of speech: evidence from a single-center experience
Authors: Formicola Daniela , Podda Irina , Dirupo Elia , Andreucci Elena , Giglio Sabrina , Cipriani Paola , Bombonato Clara , Santorelli Filippo Maria , Chilosi Anna 
Published: September 2024

BackgroundChildhood apraxia of speech (CAS) is a genetically heterogeneous pediatric motor speech disorder. The advent of whole exome sequencing (WES) and whole genome sequencing techniques has led to increased identification of pathogenic variants in CAS genes. In an as yet uncharacterized Italian cohort, we aimed both to identify new pathogenic gene variants associated with CAS, and to confirm the disease-related role of genes already reported by others. We also set out to refine the clinical and neurodevelopmental characterization of affected children, with the aim of identifying specific, gene-related phenotypes.MethodsIn a single-center study aiming to explore the genetic etiology of CAS in a cohort of 69 Italian children, WES was performed in the families of the 34 children found to have no copy number variants. Each of these families had only one child affected by CAS.ResultsHigh-confidence (HC) gene variants were identified in 7/34 probands, in two of whom they affected KAT6A and CREBBP, thus confirming the involvement of these genes in speech impairment. The other probands carried variants in low-confidence (LC) genes, and 20 of these variants occurred in genes not previously reported as associated with CAS. UBA6, ZFHX4, and KAT6A genes were found to be more enriched in the CAS cohort compared to control individuals. Our results also showed that most HC genes are involved in epigenetic mechanisms and are expressed in brain regions linked to language acquisition processes.ConclusionOur findings confirm a relatively high diagnostic yield in Italian patients.
Exploring causal associations of antioxidants from supplements and diet with attention deficit/hyperactivity disorder in European populations: a Mendelian randomization analysis
Authors: Chen Jing , Chen Lifei , Zhang Xinguang , Yao Wenbo , Xue Zheng 
Published: September 2024

BackgroundAntioxidants from both supplements and diet have been suggested to potentially reduce oxidative stress in individuals with ADHD. However, there is a lack of studies utilizing the Mendelian randomization (MR) method to explore the relationship between dietary and supplemental antioxidants with ADHD.MethodsThis study employed two-sample mendelian randomization. Various specific antioxidant dietary supplements (such as coffee, green tea, herbal tea, standard tea, and red wine intake per week), along with diet-derived circulating antioxidants including Vitamin C (ascorbate), Vitamin E (α-tocopherol), Vitamin E (γ-tocopherol), carotene, Vitamin A (retinol), zinc, and selenium (N = 2,603–428,860), were linked to independent single nucleotide polymorphisms (SNPs). Data on ADHD was gathered from six sources, comprising 246,888 participants. The primary analytical method utilized was inverse variance weighting (IVW), with sensitivity analysis conducted to assess the robustness of the main findings.ResultsIn different diagnostic periods for ADHD, we found that only green tea intake among the antioxidants was significantly associated with a reduced risk of ADHD in males (OR: 0.977, CI: 0.963–0.990, p &lt; 0.001, FDR = 0.065), with no evidence of pleiotropy or heterogeneity observed in the results. Additionally, a nominal causal association was found between green tea intake and childhood ADHD (OR: 0.989, 95% CI: 0.979–0.998, p = 0.023, FDR = 0.843). No causal relationships were detected between the intake of other antioxidant-rich diets and ADHD.ConclusionOur study found a significant inverse association between green tea intake and male ADHD, suggesting that higher green tea consumption may reduce ADHD risk in males. Further research is needed to explore optimal doses and underlying mechanisms.
Malignant acanthosis nigricans with oral manifestations in a young female: a case report and literature review
Authors: Liu Zijian , Cao Wuling , Liu Yang 
Published: September 2024

IntroductionAlmost all cases of malignant acanthosis nigricans with oral manifestations occurred in older age groups. Here, we report a case of malignant acanthosis nigricans in a young female presented with chief complaints of oral mucosal hyperplasia, who had previously been diagnosed with allergies.Case presentationA 30-year-old female developed oral hyperplasia and rash following seafood consumption, with subsequent resolution of the rash but persistent oral lesions and the appearance of pigmentation on her hands, neck, and axillae. Clinical examination revealed papillomatosis, hyperemia, and velvety hyperplasia in the oral cavity. Biopsy results confirmed papillary hyperplasia. Despite the patient’s belief in good health, she was advised to undergo further systemic examinations. Elevated serum tumor markers and histologic analysis of an endoscopic biopsy confirmed gastric cancer with duodenal infiltration, leading to the diagnosis of malignant acanthosis nigricans. Unfortunately, the patient passed away due to heart failure during chemotherapy treatment.ConclusionsThe majority of patients with malignant acanthosis nigricans present with oral lesions before the underlying malignancy is detected, emphasizing the importance of timely comprehensive systemic examination. Furthermore, our case suggests that age may not be a restrictive factor for the development of malignant acanthosis nigricans, and the presence of a rash can potentially obscure the cutaneous manifestations associated with this condition.
Ciclesonide exhibits lung-protective effects in neonatal rats exposed to intra-amniotic enterotoxin
Authors: Mielgo Victoria , Gastiasoro Elena , Catozzi Chiara , Ricci Francesca , Gomez-Solaetxe Miguel A. , Murgia Xabier , Rey-Santano Carmen 
Published: September 2024

IntroductionDespite the advances in perinatal care, bronchopulmonary dysplasia (BPD) continues to be a highly prevalent chronic lung disease that affects newborns, especially affecting premature newborns. There is no specific cure for BPD, and treatments aimed at reducing the risk of developing BPD focus mainly on lung-protective ventilation strategies, surfactant therapy, and/or corticosteroid administration. Our objective was to evaluate whether systemic postnatal administration of a new glucocorticoid, ciclesonide, can attenuate the alteration of lung structure and pulmonary hypertension in a rat model of chorioamnionitis-induced BPD, with minimal adverse effects on the developing brain.MethodsEndotoxin (ETX) or saline was administered to pregnant rats by intra-amniotic (i.a.) injection on day 20 of pregnancy, and pups were delivered by cesarean section on day 22. Ciclesonide (0.5 mg/kg) was administered postnatally for five consecutive days to pups previously exposed to i.a. ETX. On postnatal day 14, we assessed lung function (compliance), lung structure (radial alveolar count, mean linear intercept, pulmonary vessel density), pulmonary hypertension, and brain histology (edema, inflammation, apoptosis, hemorrhage, and infarction).ResultOn postnatal day 14, the effects of i.a. ETX administration were evident in neonatal rats not receiving treatment; these animals showed impaired lung compliance, disrupted lung structure, and developing pulmonary hypertension compared to those receiving i.a. saline. Postnatal administration of ciclesonide for 5 days was associated with significantly better outcomes in terms of lung compliance, alveolarization, lung vascular growth, and pulmonary hypertension, without affecting the brain histological parameters evaluated.ConclusionPostnatal ciclesonide administration preserved lung function and structure and prevented pulmonary hypertension in a BPD model induced by antenatal i.a. ETX administration, without causing any adverse effects on brain development. These findings suggest that the new glucocorticoid, ciclesonide, may provide a novel strategy for the prevention of BPD; however, more long-term studies are required.
Sustained antiviral response against in vitro HIV-1 infection in peripheral blood mononuclear cells from people with chronic myeloid leukemia treated with ponatinib
Authors: Manzanares Mario , Ramos-Martín Fernando , Rodríguez-Mora Sara , Casado-Fernández Guiomar , Sánchez-Menéndez Clara , Simón-Rueda Alicia , Mateos Elena , Cervero Miguel , Spivak Adam M. , Planelles Vicente , Torres Montserrat , García-Gutiérrez Valentín , Coiras Mayte 
Published: September 2024

HIV-1 infection cannot be cured due to long-lived viral reservoirs formed by latently infected CD4+ T cells. “Shock and Kill” strategy has been considered to eliminate the viral reservoir and achieve a functional cure but the stimulation of cytotoxic immunity is necessary. Ponatinib is a tyrosine kinase inhibitor (TKI) clinically used against chronic myeloid leukemia (CML) that has demonstrated to be effective against HIV-1 infection in vitro. Several TKIs may induce a potent cytotoxic response against cancer cells that makes possible to discontinue treatment in people with CML who present long-term deep molecular response. In this longitudinal study, we analyzed the capacity of ponatinib to induce an antiviral response against HIV-1 infection in peripheral blood mononuclear cells (PBMCs) obtained from people with CML previously treated with imatinib for a median of 10 years who changed to ponatinib for 12 months to boost the anticancer response before discontinuing any TKI as part of the clinical trial NCT04043676. Participants were followed-up for an additional 12 months in the absence of treatment. PBMCs were obtained at different time points and then infected in vitro with HIV-1. The rate of infection was determined by quantifying the intracellular levels of p24-gag in CD4+ T cells. The levels of p24-gag+ CD4+ T−cells were lower when these cells were obtained during and after treatment with ponatinib in comparison with those obtained during treatment with imatinib. Cytotoxicity of PBMCs against HIV-infected target cells was significantly higher during treatment with ponatinib than during treatment with imatinib, and it was maintained at least 12 months after discontinuation. There was a significant negative correlation between the lower levels of p24-gag+ CD4+ T−cells and the higher cytotoxicity induced by PBMCs when cells were obtained during and after treatment with ponatinib. This cytotoxic immunity was mostly based on higher levels of Natural Killer and Tγδ cells seemingly boosted by ponatinib. In conclusion, transient treatment with immunomodulators like ponatinib along with ART could be explored to boost the antiviral activity of cytotoxic cells and contribute to the elimination of HIV-1 reservoir.
Red-light photons on skin cells and the mechanism of photobiomodulation
Authors: Herrera Manuel Alejandro , Ribas Arthur Pereira , da Costa Paulo Eduardo , Baptista Mauricio S. 
Published: September 2024

Red light (600–700 nm, ∼2.1–1.8 eV) consists of a low-energy radiation with a high capacity to penetrate the skin and to induce stimulatory effects. These characteristics make this wavelength range very promising for light-based therapies. Aiming to discuss the mechanisms of action of photobiomodulation, we start by providing a broad perspective of the skin and of its interaction with light, focusing on the endogenous photosensitizers, on the formation of excited states and reactive oxidants, and on the activation of signaling effectors. The peculiar aspect of the photons in the red spectral range is that they are much less absorbed by the endogenous photosensitizers and consequently generate a lot fewer reactive oxidants (when compared with the other ranges of visible light), allowing the skin to mainly experience the consequences of several signaling pathways that are activated during the skin interaction with red-light photons. Indeed, the effects of red light in epithelial cells involve the control of metabolic responses, the modulation of several key genes and transcriptions factors, as well as the regulation of the intracellular nitric oxide stocks. In this article, we discuss how red light interacts with all these variables and end up causing a vigorous tissue activation. We also analyzed the effect of red-light photons on the nitric oxide homeostasis, with implications for the phototherapy of psoriasis. It is likely that several of the observations and mechanisms described for the interactions of red-light photons may also be occurring during and after the interaction with other photons with similar energy.
What do men and women envy each other for?
Authors: Kimplova Tereza , Krakovska Michaela , Badosek Radim , Cakirpaloglu Panajotis 
Published: September 2024

IntroductionThis study explores the phenomenon of envy directed towards the opposite sex. Envy is a complex emotion that can manifest in various forms, often reflecting societal and biological influences. Previous research suggests a potential imbalance in the domains where men and women experience envy.MethodsThe research was conducted in the Czech Republic using a demographically representative sample of 1,769 individuals (867 men and 902 women). Respondents were asked what they envied about the opposite sex, and qualitative analysis was performed on their answers. A total of 32 distinct categories of envy were identified.ResultsThe analysis revealed significant differences between men and women in the nature of their envy. Women expressed envy towards men in domains linked to biological conditions and social advantages, such as salary, prestige, physical strength, and the absence of menstruation, childbirth, and menopause. Men, on the other hand, envied women for their physical attractiveness, ease of seduction, ability to perform traditionally female tasks, and motherhood. Some categories, such as safety and tolerance, were shared by both genders, but the underlying reasons differed. For instance, women envied men for not having to fear being alone, while men envied women for being protected by men.DiscussionThese findings confirm existing evidence of a gender imbalance in envy. The study also uncovered a novel form of envy, termed “ablative envy”, which refers to the desire for the absence of an unpleasant quality. This suggests that envy between the sexes is deeply rooted in both biological and social factors, offering new insights into gender dynamics.
Addressing infodemic for pandemic preparedness in the digital age: a focus on Middle Africa
Authors: Penka Marthe Bogne , Tangang Andrew , Alang Wung Ernest , Tata Kelese Mark , Okwen Patrick 
Published: September 2024

BackgroundThe 21st century has brought about a damaging information crisis, significantly challenging and undermining efforts to increase the uptake of scientific research evidence in both policy and practice. The World Health Organization (WHO) recognizes misinformation and disinformation as major drivers of pandemic spread and impact, dedicating a policy brief to pandemic preparedness on this issue. In this study, we examine the impact of mis/disinformation on the use of research evidence in public policy decision-making in West and Central Africa and reflect on how this can inform future pandemic preparedness.ObjectivesWhat factors affect the uptake of scientific evidence during disease outbreaks in Africa?MethodsWe used the JBI Scoping Review and Prevalence/Incidence Review methodologies to synthesize the best available evidence. A DELPHI survey was conducted in two stages: the first gathered experiences from policymakers, practitioners, and citizens in Cameroon, Nigeria, and Senegal regarding mis/disinformation and its impact. The second stage explored potential situations related to the issues identified in the first stage. Qualitative data analysis was conducted using MAXQDA.ResultsThe research identified the origins (n = 5), transmission platforms (n = 15), cases (n = 4), mitigation strategies (n = 6), and impacts (n = 4) of infodemic on policy design, implementation, and uptake. Online platforms were identified as the main source of infodemic in 53.3% of cases, compared to 46.7% attributed to offline platforms. We conclude that the severity of COVID-19 as a global pandemic has highlighted the dangers of mis/disinformation, with a considerable number of studies from Middle Africa demonstrating a significant negative impact on the uptake of health policies and to an extend evidence informed policy making. It is also imperative to consider addressing evidence hesitancy in citizens through innovative and indigenous approaches like storytelling.DiscussionsDigital technologies, especially social media, play a key role in the propagation of infodemics. For future pandemic preparedness, stakeholders must consider using digital tools and platforms to prevent and mitigate pandemics. This study adds new evidence to the existing body of evidence, emphasizing the need to address infodemics within the context of future pandemic preparedness in Middle Africa.
Types of nasal deformities in individuals seeking rhinoplasty at governmental hospital in Saudi Arabia
Authors: Alotaibi Abdullah D. , Alsuwayt Bashayr N. , Raghib Rana N. , Alsayer Rahaf S. , Albarrak Sarah M. , Alrasheedi Abdullah N. , Saleem Mohd , Afreen Sheeba , Friedman Oren 
Published: September 2024

IntroductionThis study explores the profound impact of nasal structure on individuals' self-image and emotional well-being, emphasizing the increasing popularity of rhinoplasty in Saudi Arabia, influenced by societal beauty standards portrayed on social media. The investigation aims to unravel the complex interplay between demographic factors, such as gender and age distribution, and prevalent nasal deformities in a cohort of 293 participants.Material and methodsThis retrospective study at the University of Hail and King Khalid Hospital, Saudi Arabia, investigated nasal deformities in 293 participants aged 15–54. Ethical approval was obtained, and data, including bio-demographics and nasal deformities, were retrospectively reviewed. Statistical analyses, utilizing chi-square and Fisher exact tests, assessed associations, enhancing internal validity. The study targeted a diverse population, emphasizing ethical guidelines and systematic sampling.ResultsOur study of 293 participants revealed a prevalence of common nasal deformities. Dorsal hump deformity (59.0%) was the most prevalent, followed by external nasal deviation (54.6%). Significant gender differences were observed, with males more prone to external nasal deviation (65.6%), while decreased nasal tip rotation was more common in females (40.6%). Variations in nasal tip shape were statistically significant, with broad nasal tip shape more prevalent in females (35.2%).ConclusionIn conclusion, our study highlights the prevalence of common nasal deformities, emphasizing significant gender variations. These findings contribute to a deeper understanding of nasal anatomy, essential for informed decision-making in rhinoplasty.
A Combined mRNA and microRNA Transcriptome Analysis of B. oleracea Response to Plasmodiophora brassicae Infection
Authors: Wang Min , Zhu Xiaowei , Tai Xiang , Chen Jinxiu , Bo Tianyue 
Published: September 2024

Clubroot disease, caused by the pathogen Plasmodiophora brassicae, is a serious disease that poses a critical threat to cabbage production. However, the molecular mechanism of the microRNAs (miRNAs) involved in the cabbage’s response to P. brassicae infection remains to be elucidated. Here, the mRNA and miRNA expression profiles of cabbage in response to a P. brassicae infection were analyzed. In the transcriptome analysis, 2217 and 5552 differentially expressed genes (DEGs) were identified at 7d and 21d after inoculation, which were enriched in MAPK signaling, plant–pathogen interaction, plant hormone signal transduction, and phenylpropanoid biosynthesis pathways. BolC02g057640.2J, BolC09g006890.2J, BolC02g013230.2J, BolC06g006490.2J, BolC03g052660.2J, BolC07g052580.2J, and BolC04g044910.2J were predicted to be significantly involved in the defense response or plant–pathogen interaction through co-expression network analysis. Small RNA data analysis identified 164 miRNAs belonging to 51 families. miR1515, miR166, miR159, and miR9563 had the greatest number of members among the miRNA families. Integrated analysis revealed 23 miRNA–mRNA interactions related to a P. brassicae infection. The target genes of differentially expressed miRNAs (DEMs) revealed the NAC, ARF, TCP, and SPL transcription factor members that probably participate in the defense response. This study provided new insights into the miRNA-involved regulatory system during the process of disease infection with P. brassicae in cabbage.
RFSoC Softwarisation of a 2.45 GHz Doppler Microwave Radar Motion Sensor
Authors: Hobden Peter , Nurellari Edmond , Srivastava Saket 
Published: September 2024

Microwave Doppler sensors are used extensively in motion detection as they are energy-efficient, small-size and relatively low-cost sensors. Common applications of microwave Doppler sensors are for detecting intrusion behind a car roof liner inside an automotive vehicle and to detect moving objects. These applications require a millisecond response from the target for effective detection. A Doppler microwave sensor is ideally suited to the task, as we are only interested in movement of a large water-based mass (i.e., a person) (FMCW Radar also detect static objects). Although microwave components at 2.45 GHz are now relatively cheap due to mass production of other Industrial Scientific and Medical application (ISM) devices, they do require tuning for temperature compensation, dielectric, and manufacturing variability. A digital solution would be ideal, as chip solutions are known to be more repeatable, but Application-Specific Integrated Circuits (ASICs) are expensive to initially prototype. This paper presents the first completely digital Doppler motion sensor solution at 2.45 GHz, implemented on the new RFSoC from Xilinx without the need to up/downconvert the frequency externally. Our proposed system uses a completely digital approach bringing the benefits of product repeatability, better overtemperature performance and softwarisation, without compromising any performance metric associated with a comparable analogue motion sensor. The RFSoC shows to give superior distance versus false detection, as the Signal-to-Noise Ratio (SNR) is better than a typical analogue system. This is mainly due to the high gain amplification requirement of an analogue system, making it susceptible to electrical noise appearing in the intermediate-frequency (IF) baseband. The proposed RFSoC-based Doppler sensor shows how digital technology can replace traditional analogue radio frequency (RF). A case study is presented showing how we can use a novel method of using multiple Doppler channels to provide range discrimination, which can be performed in both analogue and in a digital implementation (RFSoC).