bluuebunny/crossref_metadata_2025_split huggingface dataset:
Severe pharyngeal stenosis and laryngomalacia in an individual of HNRNPU‐related neurodevelopmental disorder associated with a novel nonsense variant
Authors: Sasaki Yusuke , Murakami Hiroaki , Kuroda Yukiko , Enomoto Yumi , Naruto Takuya , Nagara Syunsuke , Koyama Toshinari , Matsunami Kunihiro , Sakashita Tatsuya , Kaneko Hideo , Morimoto Kyoko , Imamura Atsushi , Kurosawa Kenji 
Published: February 2025

AbstractHeterozygous loss‐of‐function variants in heterogeneous nuclear ribonucleoprotein U (HNRNPU) cause early‐onset developmental and epileptic encephalopathy with multiple congenital anomalies. Limited clinical information is currently available on HNRNPU‐related neurodevelopmental disorder. The patient was a 1‐year‐old Japanese girl with developmental delay, hypotonia, early‐onset epilepsy, respiratory distress, and distinctive facial features, including ptosis, epicanthus, a prominent nasal bridge, a wide nasal floor, a cleft soft palate, and micrognathia. Respiratory distress was caused by pharyngeal stenosis and laryngomalacia, which gradually worsened, necessitating a scheduled tracheostomy at 1 year and 7 months of age. We performed whole‐exome sequencing and identified a novel de novo nonsense variant in HNRNPU. We herein describe the first case of HNRNPU‐related neurodevelopmental disorder with severe airway anomalies and a novel nonsense variant, thereby expanding the phenotypic spectrum
Unraveling the Genetic Landscape of Foot Arch Morphology: A Systematic Review of Single Nucleotide Polymorphisms
Authors: He Yukun , Verleyen Marlies , Callewaert Bert , Burssens Arne , Audenaert Emmanuel 
Published: February 2025

ABSTRACTVariations in foot arch morphology, including flat feet (pes planus) and high arches (pes cavus), range from asymptomatic to debilitating. Limited research exists on the genetics of foot arch geometry. This systematic review aims to identify single nucleotide polymorphisms (SNPs) linked to foot arch morphology. The review protocol was registered in PROSPERO (CRD42024537877). PubMed, The Cochrane Library, Embase, and Web of Science were searched for studies on SNPs related to foot arch morphology published up to December 2023. Nineteen eligible studies (2006–2020) identified 137 SNPs across conditions affecting connective tissue (12 studies, e.g., Marfan Syndrome), nerves (six studies, e.g., Charcot–Marie–Tooth Disease), and muscles (one study, e.g., Distal Arthrogryposis Syndromes). While no studies directly linked SNPs to foot arch morphology, three explored SNPs in genetic diseases associated with foot arch variations. Pes planus was linked to connective tissue disorders, and pes cavus to neuropathies and myopathies. Only two replicated SNPs were found. This review found no direct studies of SNPs influencing foot arch morphology, highlighting a significant research gap. Future research should examine SNPs in larger cohorts to differentiate natural variations from pathology‐driven deformities. To enhance reproducibility, standardized methodologies, and a unified genetic database (including phenotypic data on common traits) should be developed.
The standard system and corporate labor employment: Empirical evidence from China's comprehensive standardization reform
Authors: Yu Lianchao , Geng Hongji , Song Feifei , Zhao Changheng 
Published: February 2025

AbstractThis study employs China's comprehensive standardization reform as an exogenous policy shock to investigate the impact of the standard system on corporate labor employment. The findings indicate that comprehensive standardization reform facilitates corporate labor employment by reducing transaction costs, enhancing operational efficiency, and improving the financing environment. The heterogeneity analysis reveals that the effects of comprehensive standardization reform on corporate labor employment are more pronounced in firms with non‐state ownership, operating in competitive industries, located in regions with lower levels of marketization, and exhibiting significant gender disparities. Overall, this study highlights the employment externalities associated with the standard system.
Vision‐Based UAV Detection and Tracking Using Deep Learning and Kalman Filter
Authors: Alshaer Nancy , Abdelfatah Reham , Ismail Tawfik , Mahmoud Haitham 
Published: February 2025

ABSTRACTThe rapid increase in unmanned aerial vehicles (UAVs) usage across various sectors has heightened the need for robust detection and tracking systems due to safety and security concerns. Traditional methods like radar and acoustic sensors face limitations in noisy environments, underscoring the necessity for advanced solutions such as deep learning‐based detection and tracking. Hence, this article proposes a two‐stage platform designed to address these challenges by detecting, classifying, and tracking various consumer‐grade UAVs. The tracking efficacy of the proposed system is assessed using a combination of deep learning and Kalman filter techniques. Specifically, we evaluate models such as YOLOv3, YOLOv4, YOLOv5, and YOLOx to identify the most efficient detector for the initial detection stage. Moreover, we employ both the Kalman filter and the Extended Kalman filter for the tracking stage, enhancing the system's robustness and enabling real‐time tracking capabilities. To train our detector, we construct a dataset comprising approximately 10,000 records that capture the diverse environmental and behavioural conditions experienced by UAVs during their flight. We then present both visual and analytical results to assess and compare the performance of our detector and tracker. Our proposed system effectively mitigates cumulative detection errors across consecutive video frames and enhances the accuracy of the target's bounding boxes.
Perceptions of clinicians on promoting oral health care in an alcohol and other drug use health care service: A qualitative study
Authors: Sengupta Agnivo , Fatema Kaniz , Patterson‐Norrie Tiffany , Kezhekkekara Shwetha , Poudel Prakash , Whitton Gilbert , Srinivas Ravi , Hocking Stephanie , George Ajesh 
Published: February 2025

AbstractIntroductionAlcohol and illicit drug use is linked to a higher prevalence of oral health complications. However, substance use can lead to avoidance of dental services due to anxiety and competing health priorities. This study explores current knowledge, attitudes and practices of clinicians of an alcohol and other drug service regarding promoting oral health among their clients.MethodsExploratory qualitative design using semi‐structured interviews with medical and nursing staff working as alcohol and other drug professionals in a Drug Health Service in South Western Sydney, Australia.ResultsThree main themes were identified: perceptions of providing oral health care to clients; barriers to promoting oral health care; and recommendations for oral health integration in alcohol and other drug settings. Oral health concerns were identified as a significant issue for their clients within the alcohol and other drug setting. Considering a higher prevalence of oral health issues among clients, staff acknowledged that oral health interventions within alcohol and other drug settings would be beneficial. Barriers included access challenges for public dental services, affordability of private dental care, limited oral health training and time constraints. Staff recommends that training/resources are required to support staff in the provision of oral health promotion to clients.Discussion and ConclusionsClients accessing alcohol and other drug services often have unmet oral health needs. The clinicians who participated in this study, are motivated to provide oral health promotion within this setting, however, they require training, resources (including allocation of time) and appropriate referral pathways to support provision of this service.
Temporal risk patterns of severe hypovolemia associated with sodium‐glucose cotransporter‐2 inhibitors in patients with type 2 diabetes mellitus: A self‐controlled case series study
Authors: Shikamura Mitsuhiro , Takayama Atsushi , Yokogawa Kasumi , Kawakami Koji 
Published: February 2025

AbstractAimsWe aimed to investigate the temporal risk patterns of severe hypovolemia induced by sodium‐glucose cotransporter‐2 inhibitors (SGLT2i) in patients with type 2 diabetes mellitus.Materials and MethodsWe conducted a self‐controlled case series using claims data from Japan. Patients who were prescribed SGLT2i for treating type 2 diabetes mellitus and experienced severe hypovolemia were enrolled. The primary analysis evaluated the adjusted incidence rate ratios (IRRs) of exposure risk periods (Days 1 to 30, Days 31 to 90, Days 91 to 180 and Days ≥181) with their corresponding 95% confidence intervals (CIs), calculated using a multivariable conditional Poisson regression model, relative to that of the unexposed control period.ResultsA total of 1200 new users of SGLT2i with 1334 severe hypovolemia events were included. The median follow‐up and treatment periods were 3.66 and 2.53 years, respectively. The cohort was predominantly male (78.4%) with a median age of 54.1 years. A higher risk of severe hypovolemia associated with SGLT2i was observed particularly in the first 30 days (adjusted IRR 7.39, 95% CI 6.09–8.96) of treatment initiation. Secondary analyses highlighted the first 22 to 28 days (adjusted IRR 15.24, 95% CI 11.92–19.48) of treatment as the highest risk period for severe hypovolemia.ConclusionsSGLT2i use in patients with type 2 diabetes mellitus was associated with a higher risk of severe hypovolemia, particularly within the first 30 days of treatment initiation, with the highest risk observed during 22 to 28 days.
General Enhancement of Soil Water Repellency by Moss Crusts in Degraded Subtropical Karst Ecosystems
Authors: Zhao Xin , Chen Dong , Guo Guanting , Wu Jiaojiao , Long Mingzhong , Long Linmei , Li Xiaona 
Published: February 2025

ABSTRACTSoil water repellency, a crucial soil physical property, is widespread globally, affecting hydrology positively or negatively by impeding soil wetting. Nonetheless, research on soil and biocrust water repellency in degraded subtropical karst environments is lacking. This research examined how moss crusts affect soil water repellency in these environments using the Water Drop Penetration Time (WDPT) method. The research utilised moss crusts from degraded karst areas with varying levels of degradation, contrasting them with bare soils as controls. Results indicate that degraded subtropical karst soils (calcareous and yellow soils) exhibited no water repellency (WDPT < 5 s). Moss crusts notably enhanced water repellency consistently across various degradation stages, exhibiting slight water repellency (5 s ≤ WDPT < 60 s). Soil water repellency diminished following the removal of moss; however, it remained significantly elevated compared to bare soil. Factors such as soil water content, fine particle content, aggregate stability, organic carbon, total nitrogen, and total potassium were found to significantly influence water repellency. In bare soils, water repellency peaked at 10% water content, weakening thereafter, whereas moss crusts exhibited strongest repellency at 0% water content, diminishing as water content increased. Moreover, both moss crusts and bare soils showed heightened repellency with smaller particle sizes (< 0.05 mm). The hydrological impacts of biocrust‐induced water repellency vary, presenting both positive and negative effects that necessitate further investigation. This research establishes a foundation for upcoming studies on the impact of biocrusts on hydrology within these environments, providing essential theoretical knowledge for addressing soil erosion and loss in the context of global changes.
Urban Environments Promote Adaptation to Multiple Stressors
Authors: Briski Elizabeta , Langrehr Louisa , Kotronaki Syrmalenia G. , Sidow Alena , Martinez Reyes Cindy Giselle , Geropoulos Antonios , Steffen Gregor , Theurich Nora , Dickey James W. E. , Hütt Jasmin C. , Haubrock Phillip J. , Soto Ismael , Kouba Antonín , Cuthbert Ross N. 
Published: February 2025

ABSTRACTAnthropogenic activities have drastically changed environmental conditions worldwide, negatively impacting biodiversity and ecosystem services. At the same time, the majority of the human population lives in urban areas that are greatly altered from natural habitats. Nevertheless, many species thrive in these urban environments. To improve our knowledge of evolution and adaptation in these anthropogenically impacted habitats, we conducted the widest series of stress experiments to date with three marine taxa: one mussel and two gammarid species. We compared intraspecific populations from protected and human‐altered habitats to determine their tolerance to salinity, temperature and partial pressure of CO2 in water (pCO2) regimes. Populations from impacted habitats typically outperformed protected habitat populations, with individuals from the most impacted habitat being the most robust. We propose that urban populations are adapting to life in disturbed environments—this adaptation concurrently promotes more resilient rescue populations but potentially confers increased invasion risk from non‐native species.
Prevalence and Spectrum of Neuropathies in a Cohort of 585 Patients With Immunoglobulin A Monoclonal Gammopathy
Authors: Perrain Valentine , Molinier‐Frenkel Valérie , Dupuis Jehan , Créange Alain , Lefaucheur Jean‐Pascal , Gendre Thierry 
Published: February 2025

ABSTRACTBackgroundNeuropathies associated with IgA monoclonal gammopathy are poorly understood, and the interpretation of the presence of such gammopathy in a patient with neuropathy may be challenging.MethodsThe neurological and hematological features of all patients newly diagnosed with IgA gammopathy by immunofixation in our center from January 2016 to December 2020 were retrospectively analyzed. Patients with neuropathy were identified through the medical records. The etiology was reviewed by two neurologists and classified into three groups: (i) IgA‐related neuropathies, (ii) IgA‐unrelated neuropathies with an identified alternative etiology, and (iii) neuropathies of uncertain relationship with IgA (NURIA) based on a negative extensive work‐up.ResultsAmong 585 patients with IgA gammopathy, 79 had neuropathy (14%). Neuropathy was IgA‐related in 10 patients (13%): eight AL amyloidosis and two POEMS. In this group, the core features were neuropathic pain, autonomic dysfunction, fatigue or weight loss, and a lambda light chain. IgA‐unrelated neuropathies were more frequent (N = 64, 81%), encompassing mainly chemotherapy‐induced (N = 34) and diabetic (N = 15) neuropathies. Five patients (6%) were classified as NURIA: four had mild sensory‐predominant length‐dependent axonal neuropathy, and one had severe, progressive, motor‐predominant axonal neuropathy.ConclusionsIn patients with IgA gammopathy, neuropathies have a low prevalence and a wide etiological spectrum. AL amyloidosis and POEMS syndrome are rare but crucial to identify, as disease‐modifying treatments are available. Future studies should help better characterize the rare cases of neuropathy with an uncertain relationship to IgA gammopathy.
Effect of pergolide treatment on insulin dysregulation in horses and ponies with pituitary pars intermedia dysfunction
Authors: Galinelli Nicolas C. , Bamford Nicholas J. , Erdody Madison L. , Mackenzie Skye A. , Warnken Tobias , Harris Patricia A. , Sillence Martin N. , Bailey Simon R. 
Published: February 2025

AbstractBackgroundDue to the high frequency of laminitis reported for both conditions, the relationship between pituitary pars intermedia dysfunction (PPID) and insulin dysregulation (ID), and the potential role of dopamine in modifying insulin secretion, requires further investigation.ObjectivesTo evaluate the effect of pergolide mesylate on insulin sensitivity and postprandial insulin and glucose responses in horses and ponies with ID, both with or without concurrent PPID.Study designRandomised crossover study.MethodsSixteen horses and ponies, comprising eight matched pairs (PPID+ID or ID‐only), were given pergolide mesylate at a dose of 2 μg/kg bwt orally once daily for 4 weeks (plus a 4‐week non‐treatment control period, with a 4‐week washout between phases). A combined glucose and insulin tolerance test (CGIT) and a standard meal test (SMT; containing 1.1 g/kg bwt of starch and 0.1 g/kg bwt of free sugars), were performed before and after each treatment period to determine insulin sensitivity and postprandial insulin and glucose responses, respectively. Variables derived from the CGIT and SMT were analysed using linear mixed models.ResultsPergolide treatment did not alter any of the variables derived from the CGIT in either the PPID+ID or ID‐only groups (all p > 0.05). For the SMT, insulin responses were reduced by pergolide treatment for the PPID+ID group, with Δ change values for the total area under the curve for insulin over 300 mins (estimated marginal mean [95% confidence interval]) being −25.4 (−39.9 to −7.3) min∙mIU/mL (p = 0.03) and Δ change values for peak insulin concentration being −100 (−167 to −29) μIU/mL (p = 0.04). No effect of pergolide treatment was detected for the ID‐only group.Main limitationsNumber of animals and heterogeneity among groups.ConclusionsPergolide had no effect on tissue insulin sensitivity. However, the results suggest that postprandial hyperinsulinaemia may be limited by this dopamine receptor agonist in animals with PPID plus ID.
Prevalence and degree of orotracheal intubation‐related tracheal lesions in horses
Authors: Parente Aiden , Geburek Florian , Kästner Sabine , Iversen Charlotte , Hopster Klaus 
Published: February 2025

AbstractBackgroundOrotracheal intubation is commonly performed for inhalation anaesthesia in horses to ensure safe and reliable administration of volatile anaesthetics and to secure the airways. In human and equine medicine, the occurrence of intubation‐associated complications has been described, which can range from mild mucosal irritation to severe necrosis. However, there are only sparse descriptions of mucosal alterations and the course of healing after elective surgery in horses.ObjectiveTo investigate the prevalence and severity of tracheal lesions following endotracheal intubation associated with general anaesthesia in equine patients.Study DesignProspective, clinical study.MethodsForty adult Warmblood horses, weighing 400–600 kg, presented for elective surgery under general anaesthesia were included. For orotracheal intubation, a silicone tube was used and inflated until a cuff pressure of 40 cmH2O was confirmed. In all horses, endoscopic examination of the trachea with video documentation was performed prior to intubation and immediately after extubation, as well as 1, 3, 5 and 7 days after general anaesthesia. The type (redness, secretion, bleeding, erosions) and degree (0 = non‐existent to 4 = severe) of corresponding lesions were assessed and scored. The occurrences of clinical signs were recorded. Statistical evaluation was performed using Friedman's test and Pearson correlation.ResultsThe median score immediately after recovery from anaesthesia was 6 (2–12) and increased significantly to 11 (4–15) after 1 day (p = 0.021). At day 7, the median score was 0 (0–2) with only four horses showing signs of mild tracheitis, and clinical signs were not observed throughout this time period. The duration of intubation correlated with the degree of tracheal damage (r2 = 0.67, p < 0.001).Main LimitationsClinical, non‐randomised study without a control group.ConclusionAlthough orotracheal intubation was accompanied by focal inflammation of the trachea, in the present study no horses showed clinical signs and lesions healed within a week.
Role of Siglec‐E in MC903‐Induced Atopic Dermatitis
Authors: Nakanishi Mari , Tamagawa‐Mineoka Risa , Nishigaki Hiromi , Arakawa Yukiyasu , Ohtsuka Satoshi , Katoh Norito 
Published: February 2025

ABSTRACTAtopic dermatitis (AD) is a common skin disease. Although AD pathogenesis has been widely researched, inhibitory mechanisms in AD are still unclear. Sialic acid‐binding immunoglobulin‐like lectins (Siglecs) are a family of receptors recognising sialic acids; most Siglecs work as inhibitory receptors. Among Siglecs, Siglec‐E is expressed on dendritic cells (DCs) and eosinophils, important immune cells in AD. Although Siglec‐E inhibits Type 1 inflammatory diseases, how it influences AD is unknown. Thus, we investigated the role of Siglec‐E in AD mouse model by using Siglec‐E knockout (KO) mice. We demonstrated that Siglec‐E attenuated AD‐like inflammation of mice caused by topical application of MC903 on ear skin (MC903‐induced AD). To reveal the role of Siglec‐E in MC903‐induced AD, we focused on Siglec‐E on DCs and eosinophils. We first showed that Sigle‐E was expressed on cutaneous DCs and migratory DCs of draining lymph nodes. Moreover, OX40L expression on cutaneous DCs was reduced in the presence of Siglec‐E. In vitro experiments using cultured spleen DCs (SpDCs), highly expressing Siglec‐E, revealed that IL‐33 was involved in the induction of Siglec‐E and confirmed that Siglec‐E inhibited OX40L expression on SpDCs induced by IL‐33. Moreover, CD4+ T cell–SpDC coculture revealed that Siglec‐E inhibited Th2 polarisation under IL‐33 stimulation. We finally revealed that Siglec‐E was expressed on eosinophils and reduced the eosinophils infiltration to the MC903‐treated ear skin with the suppression of CD49d, a necessary integrin for eosinophil migration to skin tissue [1], expression on eosinophils. These findings elucidated the inhibitory role of Siglec‐E in MC903‐induced AD.
A Genome‐Wide Survey of DNA Methylation Status in Whole Blood of Patients With Hidradenitis Suppurativa Suggests Systemic Immune Dysregulation and Systemic Disease Burden
Authors: Montoya Marco , Khetani Radhika , Martinez Rebeca , Mayur Omkar , Yi Julie Z. , McGee Jean S. 
Published: February 2025

ABSTRACTHidradenitis suppurativa (HS) is a chronic inflammatory skin disease with a significant systemic disease burden. In this study, we profiled and compared the DNA methylation patterns in whole blood of HS patients versus control subjects to identify associated genes and biological pathways enriched in HS patients that may explain the systemic immune dysregulation observed in these patients. Using the Illumina 850 methylation BeadChip array, we measured the genome‐wide DNA methylation status of each subject and identified 16 variably methylated probes (VMPs) between control subjects and HS patients (p adj < 0.05). These VMPs were associated with genes that regulate immune responses (e.g. DEFB104B, GRAMD4) and drive the risk of malignancy (e.g. BCR, RNF4). Additionally, they annotated to downstream biological pathways that regulate both innate and adaptive immunity, including the interferon gamma signalling pathway. Taken together, our results suggest a potential role of epigenetics in regulating the expression of immune‐regulatory/tumour suppressor genes in the systemic circulation of HS patients.