bluuebunny/crossref_metadata_2025 huggingface dataset:
The CRISPR-Cas System and Clinical Applications of CRISPR-Based Gene Editing in Hematology with a Focus on Inherited Germline Predisposition to Hematologic Malignancies
Authors: Kansal Rina
Published: July 2024

Clustered regularly interspaced short palindromic repeats (CRISPR)-based gene editing has begun to transform the treatment landscape of genetic diseases. The history of the discovery of CRISPR/CRISPR-associated (Cas) proteins/single-guide RNA (sgRNA)-based gene editing since the first report of repetitive sequences of unknown significance in 1987 is fascinating, highly instructive, and inspiring for future advances in medicine. The recent approval of CRISPR-Cas9-based gene therapy to treat patients with severe sickle cell anemia and transfusion-dependent β-thalassemia has renewed hope for treating other hematologic diseases, including patients with a germline predisposition to hematologic malignancies, who would benefit greatly from the development of CRISPR-inspired gene therapies. The purpose of this paper is three-fold: first, a chronological description of the history of CRISPR-Cas9-sgRNA-based gene editing; second, a brief description of the current state of clinical research in hematologic diseases, including selected applications in treating hematologic diseases with CRISPR-based gene therapy, preceded by a brief description of the current tools being used in clinical genome editing; and third, a presentation of the current progress in gene therapies in inherited hematologic diseases and bone marrow failure syndromes, to hopefully stimulate efforts towards developing these therapies for patients with inherited bone marrow failure syndromes and other inherited conditions with a germline predisposition to hematologic malignancies.
Genotypic Identification of Trees Using DNA Barcodes and Microbiome Analysis of Rhizosphere Microbial Communities
Authors: Hopkins Liliana , Yim Kayla , Rumora Ana , Baykus Melissa F. , Martinez Luisa , Jimenez Luis
Published: July 2024

DNA barcodes can provide accurate identification of plants. We used previously reported DNA primers targeting the internal transcribed spacer (ITS1) region of the nuclear ribosomal cistron, internal transcribed spacer (ITS2), and chloroplast trnL (UAA) intron to identify four trees at Bergen Community College. Two of the four trees were identified as Acer rubrum and Fagus sylvatica. However, Quercus was only identified at the genus level, and the fourth tree did not show similar identification between barcodes. Next-generation sequencing of 16S rRNA genes showed that the predominant bacterial communities in the rhizosphere mainly consisted of the Pseudomonadota, Actinomycetota, Bacteroidota, and Acidobacteriota. A. rubrum showed the most diverse bacterial community while F. sylvatica was less diverse. The genus Rhodoplanes showed the highest relative bacterial abundance in all trees. Fungal ITS sequence analysis demonstrated that the communities predominantly consisted of the Ascomycota and Basidiomycota. Quercus showed the highest fungi diversity while F. sylvatica showed the lowest. Russula showed the highest abundance of fungi genera. Average similarity values in the rhizosphere for fungi communities at the phylum level were higher than for bacteria. However, at the genus level, bacterial communities showed higher similarities than fungi. Similarity values decreased at lower taxonomical levels for both bacteria and fungi, indicating each tree has selected for specific bacterial and fungal communities. This study confirmed the distinctiveness of the microbial communities in the rhizosphere of each tree and their importance in sustaining and supporting viability and growth but also demonstrating the limitations of DNA barcoding with the primers used in this study to identify genus and species for some of the trees. The optimization of DNA barcoding will require additional DNA sequences to enhance the resolution and identification of trees at the study site.
Genetic Insights into the Historical Attribution of Variety Names of Sweet Chestnut (Castanea sativa Mill.) in Northern Italy
Authors: Cavallini Marta , Lombardo Gianluca , Cantini Claudio , Gerosa Mauro , Binelli Giorgio
Published: July 2024

The sweet chestnut (Castanea sativa Mill.) is subject to the progressive disappearance of its traditional chestnut groves. In the northern part of Italy, where distribution of the sweet chestnut is fragmented, many local varieties continue to be identified mostly by oral tradition. We characterised by SSRs eleven historically recognised varieties of sweet chestnut in the area surrounding Lake Como, with the goal of giving a genetic basis to the traditional classification. We performed classical analysis about differentiation and used Bayesian approaches to detect population structure and to reconstruct demography. The results revealed that historical and genetic classifications are loosely linked when chestnut fruits are just “castagne”, that is, normal fruits, but increasingly overlap where “marroni” (the most prized fruits) are concerned. Bayesian classification allowed us to identify a homogeneous gene cluster not recognised in the traditional assessment of the varieties and to reconstruct possible routes used for the propagation of sweet chestnut. We also reconstructed ancestral relationships between the different gene pools involved and dated ancestral lineages whose results fit with palynological data. We suggest that conservation strategies based on a genetic evaluation of the resource should also rely on traditional cultural heritage, which could reveal new sources of germplasm.
Expanding Genetic Counselor Roles: A Model for Global Research Development
Authors: Muraresku Colleen C. , McCormick Elizabeth M. , Rockart Lydia , Blaine Crowley T. , Asher Stephanie , Back Amanda , Baldino Sarah M. , Bedoukian Emma , Britt Allison D. , Burrill Natalie , Cacioppo Cara , Clark Dana Farengo , Clark Mary Egan , Conway Laura , Dratch Laynie , Dubbs Holly A. , Engelhardt Nicole M. , Ginn Natalie , Gray Christopher , Hartman Tiff , Hathaway Evan R. , Helbig Katherine L. , Hoffman-Andrews Lily , Kasperski Stefanie , Keena Beth A. , Keller Kierstin N. , Long Jessica M. , Lulis Lauren , Lusk Laina , McGinn Daniel E. , Mueller Rebecca , Paul Rache A. , Pilchman Lisa , Powers Jacquelyn , Raible Sarah E. , Reichert Sara , Rippert Alyssa L. , Arnold Angela G. , Ruggiero Sarah M. , Schindewolf Erica , Sullivan Katie Rose , Terek Shannon , Wang Bekah , Wells McKenzie , Wisniewski Natalia , Wright Renee , Wood Elisabeth McCarty , Woyciechowski Stacy , Zelley Kristin , Valverde Kathleen D. , McDonald-McGinn Donna M.
Published: July 2024

Purpose: Genetic counselors (GCs) increasingly play key roles in advancing genomic medicine through innovative research. Here, we examine one large cohort of GCs’ evolving contributions to the literature, with the goal of facilitating worldwide professional development for GCs through scholarly activities. Methods: Publications were cataloged by members of the Section of Genetic Counseling (Section), established at the Children’s Hospital of Philadelphia and the University of Pennsylvania in 2014, including publication year, journal, impact factor, and author position. Data were organized using the “My Bibliography” tool on the National Center for Biotechnology Information website and a Research Electronic Data Capture database created to initially collect manuscripts published through 30 June 2020. A subsequent survey captured publications through 5 February 2024. Results: An amount of 52 of 120 (43%) GCs shared their curriculum vitae/papers. 992 unique publications were identified from 1986 to 2024. Since 2013, no less than 32 papers were published annually by Section members and no less than 10 GCs contributed to publications yearly. Impact factors typically averaged >5.0 per year. Areas of foci diversified considerably since 2015. Conclusions: Here, we establish that GCs indeed contribute to scholarly work as evidenced by the number of publications alone. The establishment of an academic home may have contributed, given publications increased concurrent to launching the Section, providing a model for organizing GCs at institutions nationally and internationally. Highlighting such achievements will foster the expansion of GC roles in the era of precision genomic medicine and therapy. Considering ways to support GCs towards expanding these activities is equally important.
Characterization and Phylogenetic Analysis of the Chloroplast Genomes of Stephania japonica var. timoriensis and Stephania japonica var. discolor
Authors: Wu Li-Li , Geng Ying-Min , Zheng Lan-Ping
Published: July 2024

This study sequenced the complete chloroplast genomes of Stephania japonica var. timoriensis and Stephania japonica var. discolor using the Illumina NovaSeq and PacBio RSII platforms. Following sequencing, the genomes were assembled, annotated, comparatively analyzed, and used to construct a phylogenetic tree to explore their phylogenetic positions. Results indicated that the chloroplast genomes of S. japonica var. timoriensis and S. japonica var. discolor both displayed a typical double-stranded circular tetrameric structure, measuring 157,609 and 157,748 bp in length, respectively. Each genome contained 130 annotated genes, with similar total GC content and relative codon usage patterns, showing a distinct preference for A/U at the third codon position. Simple sequence repeat analysis identified 207 and 211 repeats in S. japonica var. timoriensis and S. japonica var. discolor, respectively, primarily the A/T type. Boundary condition analysis indicated no significant expansion or contraction in the inverted repeat regions with consistent gene types and locations across both varieties. Nucleotide polymorphism analysis highlighted greater variation in the intergenic regions than in the coding sequences of Stephania chloroplast genomes. Phylogenetic analyses demonstrated that the species Stephania clustered into a distinct, well-supported clade. Notably, Stephania japonica, along with S. japonica var. discolor and S. japonica var. timoriensis, established a monophyletic lineage. Within this lineage, S. japonica and S. japonica var. discolor were closely related, with S. japonica var. timoriensis serving as their sister taxon.
Double Trouble: COVID-19 Infection Exacerbates Sickle Cell Crisis Outcomes in Hospitalized Patients—Insights from National Inpatient Sample 2020
Authors: Bodla Zubair Hassan , Hashmi Mariam , Niaz Fatima , Auyeung Austin B. , Oyetoran Anuoluwa , Khalil Muhammad Jahanzeb , Faisal Muhammad Salman , Khalid Farhan , Zakieh Abdel-Rahman , Bazikian Yvette , Bray Christopher L.
Published: July 2024

Background: This study investigated the impact of COVID-19 on patients with sickle cell crisis (SCC) using National Inpatient Sample (NIS) data for the year 2020. Methods: A retrospective cohort analysis was conducted utilizing International Classification of Diseases (ICD-10) codes to identify adults who were admitted with a principal diagnosis of sickle cell crisis. The primary outcomes examined were inpatient mortality, while the secondary outcomes assessed included morbidity, hospital length of stay, and resource utilization. Analyses were conducted with STATA. Multivariate logistic and linear regression analyses were used to adjust for confounding variables. Results: Of 66,415 adult patients with a primary SCC diagnosis, 875 were identified with a secondary diagnosis of COVID-19 infection. Unadjusted mortality rate was higher for SCC patients with COVID-19 (2.28%) compared to those without (0.33%), with an adjusted odds ratio (aOR) of 8.49 (p = 0.001). They also showed increased odds of developing acute respiratory failure (aOR = 2.37, p = 0.003) and acute kidney injury requiring dialysis (aOR = 8.66, p = 0.034). Additionally, these patients had longer hospital stays by an adjusted mean of 3.30 days (p < 0.001) and incurred higher hospitalization charges by an adjusted mean of USD 35,578 (p = 0.005). Conclusions: The SCC patients with COVID-19 presented higher mortality rates, increased morbidity indicators, longer hospital stays, and substantial economic burdens.
Transient Stress Lymphocytosis in a Child: A Case Report and Systematic Review of the Literature
Authors: Placek Alexander , Chan Randall Y. , Vergara-Lluri Maria , Brynes Russell K.
Published: July 2024

Transient stress lymphocytosis (TSL) is an under-recognized phenomenon associated with an acute stressful event such as physical trauma or various emergency medical conditions. Lymphocytosis generally resolves within several hours to days of the stressor. While most reports of TSL predominantly involve adult patients, it has only rarely been reported in pediatric patients. Here, we describe the clinical course of a 9-year-old male who developed TSL following a traumatic fall from a second-story balcony and provide a systematic literature review of TSL.
The Working Environment in Primary Healthcare Outpatient Facilities: Assessment of Physical Factors and Health Professionals’ Perceptions of Working Environment Conditions
Authors: Cezar-Vaz Marta Regina , Bonow Clarice Alves , Vaz Joana Cezar , Nery Carlos Henrique Cardona , da Silva Mara Regina Santos , Galvão Daniela Menezes , Alves Aline Soares , Sousa Flávia Santana Freitas , Vettorello Joice Simionato , de Souza Jociel Lima , Vaz Joaquim
Published: July 2024

The objectives of this study were to assess the adequacy of physical parameters/factors (temperature, relative humidity, noise, and illuminance levels) of the work environment in PHC facilities, to evaluate the association between the adequacy of these measured physical parameters and the physical characteristics of the PHC facilities and their surroundings and to assess the association between health professionals’ perceptions about exposure to physical risks in the PHC work environment and the adequacy of physical parameters measured in the same facilities. The study monitored 23 PHC facilities in southern Brazil and interviewed 210 health professionals. Data analysis involved Pearson’s chi-square, Fisher’s exact test, Spearman’s correlation, and multivariate linear regression analysis was used to control for confounding factors. The significance level was set at 5% (p ≤ 0.05). The combination of temperature and relative humidity presented thermal comfort levels outside the adopted criteria for adequacy in consultation (outdoor relative humidity, p = 0.013) and procedure rooms (front door open, p = 0.034). Inadequate sound comfort (noise) levels in the morning shift were found in the vaccination (front door open, p = 0.021) and consultation rooms (movement of people, p = 0.016). In PHC facilities where reception rooms had insufficient lighting, internal curtains were opened less frequently (p = 0.047). The analysis of health professionals’ perceptions of physical factors demonstrated that physicians more frequently perceive the physical risk of temperature and humidity (p = 0.044). The higher the number of nurses (p = 0.004) and oral health technicians in the PHC facilities (p = 0.031), the greater the general percentage of adequacy of monitored physical parameters. It was also confirmed that the higher the perception of moderate or severe physical risk among health professionals, the lower the general percentage of the adequacy of the physical parameters of the work environment of the PHC facilities evaluated (rs = −0.450, p = 0.031). This study’s evidence contributes to a better understanding of physical conditions and future occupational interventions to ensure the comfort, safety, and well-being of PHC workers.
Sex Work and Parenthood: The Experiences of Female Sex Workers Who Are also Parents or Caregivers: A Scoping Review
Authors: Winter Mokhwelepa Leshata , Olivia Sumbane Gsakani
Published: July 2024

Complex interactions exist between sex work and parenthood, impacting the lives of those in sex work who also provide care for others. This scoping review aims to review the experiences and challenges of female sex workers who are parents or caregivers, highlighting the socioeconomic, psychological, and legal dimensions of their dual roles. The rationale for this review stems from the recognition that sex workers who are also parents face unique and multifaceted challenges that significantly impact their wellbeing and that of their children. The five stages of a scoping review suggested by Arksey and O’Malley were followed in this study. A comprehensive literature search was conducted across electronic databases such as PubMed, PsycINFO, and Google Scholar. This study covered publications written in English from 2010 to 2023. Studies were selected based on their focus on sex workers who are parents or caregivers. Both qualitative and quantitative research articles were included. Thematic analysis was employed to synthesize findings across the selected studies. Studies published prior to 2013, studies that were not published in English, and studies that did not address the experiences of female sex workers who are parents or caregivers were excluded from this study. The review identified 14 studies meeting the inclusion criteria. Five key themes emerged from this study: (1) social stigma and healthcare discrimination; (2) legal challenges; (3) mental nexus; (4) risk behaviors and exposing children to a hazardous environment; and (5) social support. Sex workers who are also parents or caregivers navigate a multifaceted landscape of challenges and resilience. Policy reforms are needed to reduce stigma, provide financial support, and ensure legal protections for this key population.
A Realist Review Protocol into the Contexts and Mechanisms That Enable the Inclusion of Environmental Sustainability Outcomes in the Design of Lean Healthcare Improvement Interventions
Authors: Mead Elaine Shelford , Teeling Seán Paul , McNamara Martin
Published: July 2024

Healthcare makes a significant contribution to the social, economic and environmental benefits of communities. It is correspondingly a significant employer and consumer of both energy and consumables, often at high costs. Lean, a quality improvement methodology focuses on the elimination of non-value add (NVA) activities (steps that do not add value from the perspective of the customer) to improve the flow of people, information or goods. Increasingly, Lean thinking is evolving from its initial focus on eliminating NVA to a more holistic approach that encompasses sustainability. However, little work has been undertaken intentionally, including environmental sustainability outcomes in Lean healthcare interventions. Realist review methodology facilitates an understanding of the extent to which an intervention works, for whom, in what context, why and how, and has proven useful in research relating to Lean interventions in healthcare settings. This protocol provides details for a realist review that will enable an understanding of the specific contexts in which certain mechanisms are activated that enable the inclusion of environmental sustainability outcomes in the design of Lean healthcare improvement interventions.
Investigating the Interplay: Periodontal Disease and Type 1 Diabetes Mellitus—A Comprehensive Review of Clinical Studies
Authors: Vlachou Stefania , Loumé Alexandre , Giannopoulou Catherine , Papathanasiou Evangelos , Zekeridou Alkisti
Published: July 2024

Diabetes mellitus (DM) poses a significant challenge to global health, with its prevalence projected to rise dramatically by 2045. This narrative review explores the bidirectional relationship between periodontitis (PD) and type 1 diabetes mellitus (T1DM), focusing on cellular and molecular mechanisms derived from the interplay between oral microbiota and the host immune response. A comprehensive search of studies published between 2008 and 2023 was conducted to elucidate the association between these two diseases. Preclinical and clinical evidence suggests a bidirectional relationship, with individuals with T1DM exhibiting heightened susceptibility to periodontitis, and vice versa. The review includes recent findings from human clinical studies, revealing variations in oral microbiota composition in T1DM patients, including increases in certain pathogenic species such as Porphyromonas gingivalis, Prevotella intermedia, and Aggregatibacter actinomycetemcomitans, along with shifts in microbial diversity and abundance. Molecular mechanisms underlying this association involve oxidative stress and dysregulated host immune responses, mediated by inflammatory cytokines such as IL-6, IL-8, and MMPs. Furthermore, disruptions in bone turnover markers, such as RANKL and OPG, contribute to periodontal complications in T1DM patients. While preventive measures to manage periodontal complications in T1DM patients may improve overall health outcomes, further research is needed to understand the intricate interactions between oral microbiota, host response, periodontal disease, and systemic health in this population.
Activation and Autoinhibition Mechanisms of NLR Immune Receptor Pi36 in Rice
Authors: Yang Yang , Tan Liu , Xu Xingzhe , Tang Qiaoyi , Wang Ji , Xing Shiyue , Wang Rui , Zou Ting , Wang Shiquan , Zhu Jun , Li Shuangcheng , Liang Yueyang , Deng Qiming , Li Ping
Published: July 2024

Nucleotide-binding and leucine-rich repeat receptors (NLRs) are the most important and largest class of immune receptors in plants. The Pi36 gene encodes a canonical CC-NBS-LRR protein that confers resistance to rice blast fungal infections. Here, we show that the CC domain of Pi36 plays a role in cell death induction. Furthermore, self-association is required for the CC domain-mediated cell death, and the self-association ability is correlated with the cell death level. In addition, the NB-ARC domain may suppress the activity of the CC domain through intramolecular interaction. The mutations D440G next to the RNBS-D motif and D503V in the MHD motif autoactivated Pi36, but the mutation K212 in the P-loop motif inhibited this autoactivation, indicating that nucleotide binding of the NB-ARC domain is essential for Pi36 activation. We also found that the LRR domain is required for D503V- and D440G-mediated Pi36 autoactivation. Interestingly, several mutations in the CC domain compromised the CC domain-mediated cell death without affecting the D440G- or D503V-mediated Pi36 autoactivation. The autoactivate Pi36 variants exhibited stronger self-associations than the inactive variants. Taken together, we speculated that the CC domain of Pi36 executes cell death activities, whereas the NB-ARC domain suppressed CC-mediated cell death via intermolecular interaction. The NB-ARC domain releases its suppression of the CC domain and strengthens the self-association of Pi36 to support the CC domain, possibly through nucleotide exchange.
The Effect of Neuropsychiatric Drugs on the Oxidation-Reduction Balance in Therapy
Authors: Sommerfeld-Klatta Karina , Jiers Wiktoria , Rzepczyk Szymon , Nowicki Filip , Łukasik-Głębocka Magdalena , Świderski Paweł , Zielińska-Psuja Barbara , Żaba Zbigniew , Żaba Czesław
Published: July 2024

The effectiveness of available neuropsychiatric drugs in the era of an increasing number of patients is not sufficient, and the complexity of neuropsychiatric disease entities that are difficult to diagnose and therapeutically is increasing. Also, discoveries about the pathophysiology of neuropsychiatric diseases are promising, including those initiating a new round of innovations in the role of oxidative stress in the etiology of neuropsychiatric diseases. Oxidative stress is highly related to mental disorders, in the treatment of which the most frequently used are first- and second-generation antipsychotics, mood stabilizers, and antidepressants. Literature reports on the effect of neuropsychiatric drugs on oxidative stress are divergent. They are starting with those proving their protective effect and ending with those confirming disturbances in the oxidation–reduction balance. The presented publication reviews the state of knowledge on the role of oxidative stress in the most frequently used therapies for neuropsychiatric diseases using first- and second-generation antipsychotic drugs, i.e., haloperidol, clozapine, risperidone, olanzapine, quetiapine, or aripiprazole, mood stabilizers: lithium, carbamazepine, valproic acid, oxcarbazepine, and antidepressants: citalopram, sertraline, and venlafaxine, along with a brief pharmacological characteristic, preclinical and clinical studies effects.
Anticancer Activity of Metallodrugs and Metallizing Host Defense Peptides—Current Developments in Structure-Activity Relationship
Authors: Andrés Celia María Curieses , Pérez de la Lastra José Manuel , Bustamante Munguira Elena , Andrés Juan Celia , Pérez-Lebeña Eduardo
Published: July 2024

This article provides an overview of the development, structure and activity of various metal complexes with anti-cancer activity. Chemical researchers continue to work on the development and synthesis of new molecules that could act as anti-tumor drugs to achieve more favorable therapies. It is therefore important to have information about the various chemotherapeutic substances and their mode of action. This review focuses on metallodrugs that contain a metal as a key structural fragment, with cisplatin paving the way for their chemotherapeutic application. The text also looks at ruthenium complexes, including the therapeutic applications of phosphorescent ruthenium(II) complexes, emphasizing their dual role in therapy and diagnostics. In addition, the antitumor activities of titanium and gold derivatives, their side effects, and ongoing research to improve their efficacy and reduce adverse effects are discussed. Metallization of host defense peptides (HDPs) with various metal ions is also highlighted as a strategy that significantly enhances their anticancer activity by broadening their mechanisms of action.
Polysaccharides from Basella alba Protect Post-Mitotic Neurons against Cell Cycle Re-Entry and Apoptosis Induced by the Amyloid-Beta Peptide by Blocking Sonic Hedgehog Expression
Authors: Hou Bo-Yu , Wu Ming-Hsuan , Hsu Hui-Yu , Lin Yi-Chun , Yang Ding-I
Published: July 2024

The amyloid-beta peptide (Aβ) is the neurotoxic component in senile plaques of Alzheimer’s disease (AD) brains. Previously we have reported that Aβ toxicity is mediated by the induction of sonic hedgehog (SHH) to trigger cell cycle re-entry (CCR) and apoptosis in post-mitotic neurons. Basella alba is a vegetable whose polysaccharides carry immunomodulatory and anti-cancer actions, but their protective effects against neurodegeneration have never been reported. Herein, we tested whether polysaccharides derived from Basella alba (PPV-6) may inhibit Aβ toxicity and explored its underlying mechanisms. In differentiated rat cortical neurons, Aβ25-35 reduced cell viability, damaged neuronal structure, and compromised mitochondrial bioenergetic functions, all of which were recovered by PPV-6. Immunocytochemistry and western blotting revealed that Aβ25-35-mediated induction of cell cycle markers including cyclin D1, proliferating cell nuclear antigen (PCNA), and histone H3 phosphorylated at Ser-10 (p-Histone H3) in differentiated neurons was all suppressed by PPV-6, along with mitigation of caspase-3 cleavage. Further studies revealed that PPV-6 inhibited Aβ25-35 induction of SHH; indeed, PPV-6 was capable of suppressing neuronal CCR and apoptosis triggered by the exogenous N-terminal fragment of sonic hedgehog (SHH-N). Our findings demonstrated that, in the fully differentiated neurons, PPV-6 exerts protective actions against Aβ neurotoxicity via the downregulation of SHH to suppress neuronal CCR and apoptosis.
High-Fat Diets Fed during Pregnancy Cause Changes to Pancreatic Tissue DNA Methylation and Protein Expression in the Offspring: A Multi-Omics Approach
Authors: Eileen Lindsey , Peterson Maria
Published: July 2024

Maternal obesity, caused by diets rich in fats and sugars during pregnancy, can predispose offspring to metabolic diseases such as diabetes. We hypothesized that obesity during pregnancy leads to increased DNA methylation and reduced protein expression in factors regulating β-cell function and apoptosis. Female C57BL/6J mice were fed a high-fat diet (HFD; 42% fat content; n = 3) or a control diet (CON; 16% fat content; n = 3) for fourteen weeks before and during pregnancy. Offspring were euthanized at 8 weeks and pancreatic tissue was collected. Isolated DNA was analyzed using whole-genome bisulfite sequencing. Protein expression was quantified using LC–MS. No significant differences in body weight were observed between HFD and control pups (p = 0.10). Whole-genome bisulfite sequencing identified 91,703 and 88,415 differentially methylated regions (DMRs) in CON vs. HFD male and female offspring. A total of 34 and 4 proteins were determined to have changes in expression that correlated with changes in DNA methylation in CON vs. HFD males and females, respectively. The majority of these factors were grouped into the metabolic function category via pathway analyses. This study illustrates the complex relationship between epigenetics, diet, and sex-specific responses, therefore offering insights into potential therapeutic targets and areas for further research.
Craniofacial and Airway Morphology in Down Syndrome: A Cone Beam Computed Tomography Case Series Evaluation
Authors: Khurana Sonam , Khalifa Ayman R. , Rezallah Nader N. , Lozanoff Scott , Abdelkarim Ahmed Z.
Published: July 2024

Background: Down syndrome (DS) is a genetic condition characterized by an extra copy of chromosome 21, resulting in various physical and cognitive features. This study aimed to comprehensively analyze the dental and craniofacial morphology of individuals with DS using Cone Beam Computed Tomography (CBCT). Methods: Six individuals with DS, comprising five males and one female aged 17 to 35 years, underwent CBCT scanning. Radiographic assessments included dentition, occlusion, paranasal sinuses, airway, skull bones, and suture calcification. Linear and angular cephalometric measurements were performed, and airway analysis was conducted using Dolphin 3D imaging software v.11. Results: The study revealed prognathic maxilla in five patients, prognathic mandible in four, and bimaxillary protrusion in two. Dental findings included microdontia, enamel hypoplasia, and congenitally missing teeth, with maxillary and mandibular third molars most commonly absent. Sinus abnormalities, delayed suture closure, and cervical spine anomalies were also observed. Conclusion: These findings contribute to a deeper understanding of DS-related craniofacial characteristics and emphasize the importance of considering these morphometric features in clinical management strategies for individuals with DS. This study’s limited sample size underscores the significance of radiographic assessment in planning interventions such as cosmetic reconstructions, prosthetic rehabilitation, or orthodontic treatment for individuals with DS.
Impact of Concurrent Exercise Training on Cardiac Autonomic Modulation, Metabolic Profile, Body Composition, Cardiorespiratory Fitness, and Quality of Life in Type 2 Diabetes with Cardiac Autonomic Neuropathy: A Randomized Controlled Trial
Authors: Zaki Saima , Alam Md Farhan , Sharma Saurabh , El-Ashker Said , Ahsan Mohammad , Nuhmani Shibili
Published: July 2024

Background: Type 2 diabetes mellitus (T2DM) often leads to cardiac autonomic neuropathy (CAN), a severe complication affecting cardiovascular health. Exercise training is a proven intervention for improving metabolic control and cardiovascular health in T2DM, but the effects of concurrent exercise training (CET), combining aerobic and resistance exercises, on CAN are not fully understood. Objective: This randomized controlled trial investigates the impact of a structured CET program on cardiac autonomic modulation, metabolic profile, body composition, cardiorespiratory fitness (CRF), and quality of life (QoL) in individuals with T2DM and CAN. Methods: A total of 96 participants, aged 35–70 years, with T2DM and CAN, were randomized into CET (n = 48) and control (n = 48) groups. The CET group engaged in combined aerobic and resistance training three times per week for 13 weeks, while the control group received standard care. Primary outcomes included heart rate variability (HRV) and heart rate recovery (HRR). Secondary outcomes were metabolic profile, body composition, CRF, and QoL, which were assessed using standardized protocols and validated questionnaires. The trial was registered with the Clinical Trials Registry—India (CTRI/2021/09/036711). Results: Significant improvements were noted in the CET group compared to controls. HRV metrics (SDNN, RMSSD, pNN50, TP, LF power, HF power, and LF/HF ratio) and HRR metrics (HRR30s, HRR1, HRR2, and HRR3) all showed significant enhancements (p < 0.01). The CET group also exhibited substantial reductions in fasting blood glucose, postprandial blood glucose, HbA1c, waist circumference, hip circumference, and percentage body fat (p < 0.01). Improvements were observed in lipid profile markers and CRF (VO2max) (p < 0.01). QoL scores improved significantly in the CET group as per the ADDQoL-19 (p < 0.01). Conclusions: CET significantly enhances cardiac autonomic modulation, metabolic profile, body composition, CRF, and QoL in individuals with T2DM and CAN. These findings support the integration of CET into standard T2DM management to improve clinical outcomes and QoL. Further research is needed to explore the long-term benefits and broader applicability of CET in diverse diabetic populations.
Direct Losses and Media Exposure to Death: The Long-Term Effect of Mourning during the COVID-19 Pandemic
Authors: Caci Barbara , Giordano Giulia
Published: July 2024

Background: The social distancing policies adopted during the COVID-19 pandemic forced many individuals to confront their mortality and worry about losing loved ones, making it impossible to say goodbye to them properly. Those not directly experiencing loss were inundated with information about COVID-19-related deaths throughout social media, leading to vicarious grief. This study delved into the long-term effects of direct and vicarious mourning on people’s mental health during the COVID-19 pandemic. Method: A sample of 171 adults (65% female) aged 19–66 years (Mage = 25.8, SD = 8.57) voluntarily participated in an online survey assessing self-reported psychological measures of complicated grief, stress, depression, dispositional neuroticism, trait anxiety, and situational anxiety. Results: MANOVAs revealed that direct mourning experiences had an extremely severe impact on anxiety, stress, and fear of COVID-19, and a moderate effect on those without personal losses. Indeed, participants reporting high media exposure showed higher scores of depression and stress. Conclusions: Findings from the current study displayed that during the COVID-19 pandemic, people engaged more in proximal defenses than distal ones, taking health-protective measures, experiencing increased anxiety levels toward virus infection, and feeling distressed. Additionally, vicarious mourning was more strongly associated with depression due to emotional empathy with others.
Radiologic Evaluation of Oral Health Status in Patients Admitted to the Intensive Care Unit: A Multi-Institutional Retrospective Study
Authors: Kim Yesel
Published: July 2024

Introduction: Surveys distributed among intensive care unit (ICU) nurses reveal a significant need for dental care, with many acknowledging poor oral hygiene management. Poor oral health in ICU patients is linked to systemic problems, including aspiration pneumonia, necessitating pre-intervention assessments for bacterial diseases and dental risks. This study aims to evaluate the oral health status of ICU patients across three institutions through retrospective analysis. Methods: This retrospective study assessed the oral health status of ICU patients, using computed tomography (CT) images from three institutions over ten years. Through CT images, the oral status was evaluated in terms of total and lost tooth count and the presence of oral lesions (periapical lesions, cysts and tumors, caries, tartar, moderate to severe periodontal bone loss, tooth fractures). Variables included gender, age, the duration of ICU stay, and types of ICU. Statistical analysis was performed using chi-square tests, independent-sample t-tests, and logistic regression analysis. Results: Of the 450 participants, 430 were analyzed, revealing a prevalence of oral lesions in 67.0% of subjects. The prevalence of oral lesions was higher in males (71.5%) than females (57.7%, p = 0.006), and higher in those aged 40 and above (72.1%) compared to those under the age of 40 (47.8%, p < 0.001). This study found significant differences in oral health status based on gender, age, and ICU type, with surgical ICU patients generally having better oral health. Risk factors for oral lesions included gender, age, and duration of ICU stay. Conclusions: Most ICU patients have at least one oral lesion, regardless of the reason for their ICU admission. In particular, male ICU patients aged 40 and above have a higher prevalence of oral lesions, necessitating careful oral health assessment and treatment.
Spin–Orbit Coupling Free Nonlinear Spin Hall Effect in a Triangle-Unit Collinear Antiferromagnet with Magnetic Toroidal Dipole
Authors: Hayami Satoru
Published: July 2024

We investigate emergent conductive phenomena triggered by collinear antiferromagnetic orderings. We show that an up-down-zero spin configuration in a triangle cluster leads to linear and nonlinear spin conductivities even without the relativistic spin–orbit coupling; the linear spin conductivity is Drude-type, while the nonlinear spin conductivity has Hall-type characterization. We demonstrate the emergence of both spin conductivities in a breathing kagome system consisting of a triangle cluster. The nonlinear spin conductivity becomes larger than the linear one when the Fermi level lies near the region where a small partial band gap opens. Our results indicate that collinear antiferromagnets with triangular geometry give rise to rich spin conductive phenomena.
Drug Survival, Safety, and Effectiveness of Secukinumab for up to 5 Years in Patients with Psoriasis and Psoriatic Arthritis: A Long-Term Real-Life Experience
Authors: Mastorino Luca , Dapavo Paolo , Cariti Caterina , Susca Sara , Siliquini Niccolò , Ortoncelli Michela , Stroppiana Elena , Verrone Anna , Giunipero di Corteranzo Isotta , Leo Francesco , Quaglino Pietro , Ribero Simone
Published: July 2024

Introduction: the selective IL-17 inhibitor secukinumab has demonstrated efficacy and safety in the treatment of moderate–severe psoriasis in recent years. Objective: evaluate effectiveness and drug survival (DS) of secukinumab in patients with psoriasis for up to 5 years. Methods: This is a retrospective study on a monocentric cohort of patients with psoriasis on secukinumab evaluating the achievement of PASI100, PASI90, and PASI ≤ 3 and DS analysis up to 260 weeks. DS multivariate analysis was carried out considering sex, age, age of onset of the disease, obesity, cardiovascular comorbidities, diabetes, involvement of difficult-to-treat sites, psoriatic arthritis, treatment-naïve status, and mean baseline PASI. Results: At baseline, we evaluated 255 patients on secukinumab. PASI100 was reached by 41.7% and 70.6% of patients at weeks 16 and 260, respectively. PASI90 showed a similar trend with 46.5% of patients achieving it at week 16 and 88.2% at week 260. Non-obese patients showed a faster response than patients with obesity in achieving PASI100, PASI90, and PASI ≤ 3, with significant differences at 28 weeks [55% vs. 40% (p = 0.033), 64% vs. 49% (p = 0.038), and 76% vs. 62% (p = 0.036), respectively]. The estimated DS for secukinumab was 84.3% at 12 and 48% at 60 months. Obesity and smoking habits were associated with a higher risk of discontinuation in multivariate models (HR 1.6 CI 1.05–2.45, p = 0.028; HR 1.48 CI 1.01–2.17, p = 0.043, respectively). Conclusions: Secukinumab showed effectiveness for up to 5 years of treatment, with a high DS and achievement of PASI100, PASI90, and PASI < 3 at these time points. Only obesity reduced the response and maintenance of DS.
Analysis of the Heterogeneous Coordination between Urban Development Levels and the Ecological Environment in the Chinese Grassland Region (2000–2020): A Case Study of the Inner Mongolia Autonomous Region
Authors: Wang Yue , Yang Yongchun
Published: July 2024

Scientifically identifying the impact of urban development levels on the ecological environment in China’s grassland regions from a classification perspective is crucial for stabilizing grassland ecosystems and optimizing urban development in grassland cities. Using the Inner Mongolia Autonomous Region as a case study, this research constructs a conceptual analysis framework for the coordinated state between the urban development level and the ecological environment in China’s grassland regions based on the theory of dual economic structures. Employing the Granger causality test, nonlinear fitting, and coupling coordination degree model methods, the heterogeneity and coordination between urban development levels and ecological environment in China’s grassland areas from 2000 to 2020 are comprehensively analyzed. The findings reveal the following: (1) Capital-type central cities and growing resource-based cities, with high levels of development, positively nurture the grassland ecology, exhibit high labor mobility, and experience low endogenous and exogenous pressures, resulting in high coordination. (2) Pure agro-pastoral cities, with low development levels, negatively impact the grassland ecology, have low labor mobility, and face high endogenous and exogenous pressures, resulting in low coordination. (3) Regional central cities, with moderate development levels, exert a neutral counterbalance effect on the grassland ecology, with opposing endogenous and exogenous pressures, leading to moderate coordination. (4) When the impact relationship ranges from “positive-neutral-negative,” the endogenous and exogenous pressures on the grassland ecology by declining resource-based cities and developing agro-pastoral cities are determined by their specific development levels, showing variations from “large → balance → small” to “small → balance → large,” with coordination fluctuating between “high-moderate-low”. (5) Special ecological cities are less affected by urban development levels, with coordination levels determined by the ecological foundation. Analyzing the heterogeneous coordination between urban development levels and the ecological environment for different types of cities in grassland regions is significant for improving the overall quality of the grassland ecological environment and exploring distinctive urban development models.
Land Property Rights, Spatial Form, and Land Performance: A Framework of Policy Performance Evaluation on Collective-Owned Construction Land and Evidence from Rural China
Authors: Xu Gaofeng , Liu Jian , Zhang Min
Published: July 2024

Alongside the proceeding of rural land system reform in China, it becomes more and more critical to conduct policy performance evaluations on collective-owned construction land for profitable use to reflect the achievements and deficiencies of the reform. Traditionally, land policy performance evaluation is based on the theory of “policy-performance”, which fails to explain the mechanism of transaction costs. From the perspective of spatial planning, land use and the spatial form shaped by land development management and control are a representation of land property rights, as well as an expression of land policy performance. Thus, a correct understanding of the role of spatial form in the relationship between land policy and land performance is of great significance in accurately evaluating land policy performance and further improving land policies. Focusing on the interrelation among the three factors, this article highlights and elaborates on the intermediary role of spatial form between land property rights and land policy performance and puts forward the analytical framework of “land property right–spatial form–land policy performance”. It then takes the case of Wujiang District of Suzhou in southern Jiangsu Province to prove the effectiveness of this analytical framework. The outcome of this study can serve as a supplement to “policy-performance” theory, which refines and deepens the analysis of transaction costs from the perspective of spatial planning. It may also help deepen the recognition of land policy performance through visualized presentations, providing a new perspective for performance evaluation in quantitative and qualitative ways.
Stakeholder Perspectives on the Role of Social Media in Urban Green Space, Land Management, and Resilience in Gilgit-Baltistan
Authors: Hussain Talib , Wang Dake , Li Benqian
Published: July 2024

The primary focus of this study is to explore stakeholders’ perspectives on how social media platforms like Facebook, WhatsApp, and Twitter influence land management practices and community engagement. Employing a qualitative methodology, this research delves into the complex interactions facilitated by social media, using thematic analysis to identify key themes related to communication, collaboration, empowerment, and awareness-raising among stakeholders such as local authorities, community members, environmental activists, and urban planners. The findings reveal that social media significantly enhances transparent communication channels, fosters collaboration among stakeholders, empowers local communities, and raises awareness about the importance of urban green spaces. However, challenges such as connectivity and literacy barriers persist, alongside opportunities for greater involvement and innovation. This study emphasizes the critical role of digital platforms in advancing sustainable land management practices, offering valuable insights for policymakers, urban planners, and community stakeholders. Future research should explore specific communication strategies, the impact of social influencers, and the integration of emerging technologies in urban planning. Ultimately, this research contributes to the understanding of how social media can support the development of environmentally friendly and resilient communities.
Housing Practices of Albanian Immigrants in Athens: An “in-between” Socio-Spatial Condition
Authors: Polyzou Iris , Spyrellis Stavros Nikiforos
Published: July 2024

Immigrants’ access to housing is often the outcome of self-settlement practices within a context of limited social policies that often characterizes Southern European metropolises. Hence, immigrants are facing multiple constraints and remain vulnerable towards diverse socioeconomic fluctuations. This article focuses on the housing practices followed by Albanian immigrants, the largest immigrant group in Athens’s municipality, to examine how spatial inequalities are intertwined with ethnicity in the Greek capital. The objective is twofold: to discuss ethnic segregation on the micro-scale of Athenian central neighborhoods and examine how immigrants’ housing practices are being challenged within a rapidly changing socio-spatial context. The methodology follows a mixed approach, aiming at identifying differentiations and inequalities both on the macro- and micro-spatial scale. First, differentiations among Greeks, Albanians, and other third-country nationals in Athens (2011) are traced and compared, based on quantitative data. Second, for the purpose of highlighting micro-geographies in the city, this article presents an analysis of collected narratives of Albanian immigrants, through semi-structured interviews held in 2023. The main results indicate that the population under study finds itself in an “in-between” socio-spatial condition: an “in-between”, compared to the housing experiences of Greek households and other third-country nationals, that produces (and reproduces) segregation trends visible on the micro-scale. Moreover, this article attempts to highlight how the lack of housing policies put in peril the successful self-settlement practices of Albanian immigrants, in the current context of financialization of the Athenian housing market.