bluuebunny/crossref_metadata_2025_split huggingface dataset:
Integrated multi-omics analysis identifies novel risk loci for amyotrophic lateral sclerosis in the Chinese population
Authors: Chen Guo-Bo , Yao Xin-Meng , Ye Chengyin , Lin Feng , Li Chuanzhou , Fan Dongsheng , He Ji 
Published: March 2024

Abstract

DNA methylation can serve as proxies of (past) exposures and disease progression, as well as provide clues to reveal the pathogenesis of amyotrophic lateral sclerosis (ALS) from the perspective of gene-environment interactions. Here, we conducted an epigenome-wide DNA methylation analysis in peripheral blood cells from 480 cases of ALS (203 had survival data) and 207 health controls of Han Chinese ancestry (Peking University Third Hospital ALS cohort, PUTH-ALS), whose genomic DNA methylation patterns were quantified using an Illumina Infinium Human Methylation450 Bead Chip. After rigorous quality control, we identified a number of differentially methylated positions (DMPs), 5 of which were of high confidence hypermethylated biomarkers in the PUTH-ALS cases, annotating to the genes ANKLE2, SSH2, CDC42BPB, ELAVL3, and CLEC14A. These five genes showed suppressed gene expression in the postmortem brain tissue expression profile from the New York Genomic Center ALS cohort. Furthermore, 3 DMPs (RRP1B, IL17RD, and FBXO11) associated with survival time in ALS cases were identified, suggesting that they could represent indicators of underlying disease processes potentially amenable to therapeutic interventions. We also identified a 27-loci signature that serves as an assessment of the risk of ALS based on abnormal methylation patterns, which has great potential to advance early clinical diagnosis in ALS (AUC of 0.861). Our study provides strong evidences that DNA methylation plays an important role in ALS pathogenesis, and the observed DNA methylation aberrations could potentially serve as valuable references for identifying diagnostic biomarkers.
Prognostic Impact of Dysnatremia in COVID-19 Pneumonia: Risk Stratification of Hospitalized Patients
Authors: Das Madhumita , Phukan Angela , Kalita Madhab 
Published: March 2024

Abstract

Background
Severe dysnatremia is associated with poor prognosis and worse outcome and therefore needs more attention to unravel its relation with poor prognosis in patients admitted with coronavirus disease 2019 (COVID-19). Aim of our study was to determine varying degree of dysnatremia among hospitalized COVID-19 patients and identify the clinical outcome associated with it.
Method
This is a retrospective record analysis study done on the hospitalized COVID-19 patients in Guwahati Neurological Research Centre Medical, North Guwahati. For every included patient, his or her medical records were extracted from a standardized electronic medical record collection system and scrutinised anonymously.
Results
COVID-19 positive participants were divided into four categories like, dysnatremic (serum sodium > 146 or < 134 mmol/L), hypernatremic (> 146 mmol/L), hyponatremic (< 134 mmol/L) and eunatremic (134 ‒ 146 mmol/L). Total 37.9% of the included COVID-19 participants exhibited dysnatremia compared to only 20% of the patients from the control group demonstrating a significant difference (p = 0.02). Hypernatremia was significantly high (p = 0.01) compared to hyponatremia among COVID-19 positive participants (27.7% vs 12.3%) and also turned out to be relatively severe with significantly high ICU admittance (p < 0.0001) and mortality rate (p = 0.01). Magnitude of dysnatremic patients showing aberration in the circulatory level of the other laboratory parameters was significantly high to that of eunatremic group with high fatality rate among hypernatremic. Both hyper and hyponatremic group demonstrated significantly high SOFA score but increased mortality risk, based on CURB 65 score and 2.35 fold increased probability of death was observed in hypernatremic group.
Conclusion
Dysnatremia, with special mention to hypernatremia, is associated with increased casualty rate, aberrant laboratory parameters and ICU admittance. This highlights the significance of considering dysnatremia as a predictive outcome marker and thus directs a correct path for appropriate management of COVID-19 patients.
Assessing land surface temperature variability over a large region: A temporal consistency approach using a single day satellite imagery
Authors: Rengma Nyenshu Seb , Yadav Manohar 
Published: March 2024

Abstract

Land surface temperature (LST) is a vital parameter in various scientific disciplines, including climate studies, environmental monitoring, and urban planning. This study focuses on the crucial parameter of LST and its diverse applications in understanding Earth's dynamic systems. The study addresses the limitations of traditional LST measurement methods and emphasizes the importance of satellite remote sensing for large-scale monitoring. It explores the impact of land use and land cover changes on LST, using machine learning algorithms to enhance accuracy. The research proposes a novel approach of capturing satellite data on a single day to achieve consistent atmospheric conditions, reducing uncertainties in LST estimations. A case study over Chandigarh city using Extreme Gradient Boosting (XGBoost), Light Gradient Boosting Machine, and Random Forest (RF) reveals RF's superior performance in LST predictions during both summer and winter seasons. Building on these findings, the study extends its focus to Ranchi, demonstrating RF's robustness with impressive accuracy in capturing LST variations. The research contributes to bridging existing gaps in large-scale LST estimation methodologies, offering valuable insights for its diverse applications in understanding Earth's dynamic systems.
Electrically Conductive Gold Films Formed By Sintering of Gold Nanoparticles at Room Temperature Initiated by Ozone
Authors: Summers Paige K , Wuhrer Richard , McDonagh Andrew M. 
Published: March 2024

Abstract

Understanding and controlling the sintering behaviour of gold nanoparticles is important in the field of ligand-protected nanoparticles for their use as precursors for thin film fabrication. Lowering the temperature of the sintering event of gold nanoparticles by facilitating desorption of the ligand through oxidation can provide compatibility of sintered gold nanoparticle thin films onto heat sensitive substrates. Here we examine the processes by which 1-butanethiol-protected gold nanoparticles sinter under an ozone-rich environment. Upon heating, an ozone-rich environment significantly reduces the temperature of the sintering event when compared to sintering under ambient conditions. At room temperature, exposure to an ozone-rich environment induces sintering over a period of 2.5 hours. Upon exposure to ozone, the surface-bound butanethiyl ligands are oxidized to 1-butanesulfonic acid which facilitates sintering.
A New Approach to the Detection of Vertebrate Skeletons by Ground Penetrating Radars: An Example from the Ica Desert Fossil-Lagerstätte
Authors: Schettino Antonio , Ghezzi Annalisa , Collareta Alberto , Pierantoni Pietro Paolo , Tassi Luca , Celma Claudio 
Published: March 2024

Abstract

We present a technique for the detection of vertebrate skeletons and other very thin features buried at shallow depths through the use of a ground penetrating radar (GPR). The technique is based on the acquisition of high-resolution data by medium-to-high frequency GPR antennas. The obtained radar profiles are analyzed by a new forward modelling method that is applied on a set of representative traces. This approach allows to build reflectivity plots of the survey area, which include all the relevant information about the buried structures. In particular, it is possible to individuate specific sequences of reflectivity peaks that provide the signature of selected targets. An interesting application of the method to paleontological research was carried out by investigating a small area at the top of Cerro Los Quesos, one of the most fossiliferous localities in the Ica Desert of Peru. Here we acquired GPR data at the location of a partially buried fossil skeleton of a large whale and analyzed the reflections associated with the bones by the new technique, determining the possible signature of vertebrae, ribs, cranium (including the rostrum), and mandibles. Our results show that the technique is effective in the detection of tiny features, even below the classical (Ricker and Rayleigh) estimates of the vertical resolution of the antenna in civil engineering and forensic applications.
Effects of 5-HT 4 receptor antagonist in the caudate nucleus on the performance of macaques in a delayed reward task
Authors: Hori Yukiko , Iwaoki Haruhiko , Mimura Koki , Nagai Yuji , Higuchi Makoto , Minamimoto Takafumi 
Published: March 2024

Abstract

Temporal discounting, in which the recipient of a reward perceives the value of that reward to decrease with delay in its receipt, is associated with impulsivity and psychiatric disorders such as depression. Here, we investigate the role of serotonin 5-HT4 receptors (5-HT4R) in modulating temporal discounting in the macaque dorsal caudate nucleus (dCDh), the neurons of which have been shown to represent temporally discounted value. We first mapped the 5-HT4R distribution in macaque brains using positron emission tomography (PET) imaging and confirmed dense expression of 5-HT4R in the dCDh. We then examined the effects of a specific 5-HT4R antagonist infused into the dCDh. Blockade of 5-HT4R significantly increased error rates in a goal-directed delayed reward task, indicating an increase in the rate of temporal discounting. This increase was specific to the 5-HT4R blockade because saline controls showed no such effect. The results demonstrate that 5-HT4Rs in the dCDh are involved in reward-evaluation processes, particularly in the context of delay discounting, and suggest that serotonergic transmission via 5-HT4R may be a key component in the neural mechanisms underlying impulsive decisions, potentially contributing to depressive symptoms.
Regulation of Primary Cilia Disassembly Through HUWE1-Mediated TTBK2 Degradation Plays a Crucial Role in Cerebellar Development and Medulloblastoma Growth
Authors: Wang Won-Jing , Lin I-Hsuan , Li Yue-Ru , Chang Chia-Hsiang , Cheng Yu-Wen , Wang Yu-Ting , Lin Pei-Yi , Kao Chien-Han , Su Ting-Yu , Hsu Chih-Sin , Ting Chien-Yi , Hsu Pang-Hung , Ayrault Olivier , Chung Bon-chu , Tsai Jin-Wu 
Published: March 2024

Abstract

The development of the cerebellum requires the precise regulation of granule neuron progenitor (GNP) proliferation. Although the necessity of primary cilia in supporting GNP proliferation is known, the exact molecular mechanism governing primary cilia dynamics within GNPs remains elusive. In this study, we elucidate the pivotal roles of the centrosomal kinase TTBK2 (Tau tubulin kinase-2) and E3 ubiquitin ligase HUWE1 in GNP proliferation. We found that TTBK2 is highly expressed in proliferating GNPs under Sonic Hedgehog (SHH) signaling, coinciding with active GNP proliferation and the presence of primary cilia. TTBK2 stabilizes primary cilia by inhibiting its disassembly, thereby promoting GNP proliferation in response to SHH. Mechanistically, we identify HUWE1 as a novel centrosomal E3 ligase that facilitates primary cilia disassembly by targeting TTBK2 degradation. The disassembly of primary cilia serves as a trigger for GNP differentiation, allowing their migration from the external granule layer (EGL) of the cerebellum to the internal granule layer (IGL) for subsequent maturation. Moreover, we established a link between TTBK2 and SHH-type medulloblastoma (SHH-MB), a tumor characterized by uncontrolled GNP proliferation. Depletion of TTBK2 exerts inhibitory effects on SHH-MB proliferation, suggesting TTBK2 is a potential therapeutic target for this cancer. In summary, our findings elucidate the mechanism governing cerebellar development and propose a potential anti-cancer strategy for SHH-MB.
Chronic pain and post-traumatic stress in older patients with psychiatric disorders during the Covid- 19 pandemic: co-occurrence and influence of attachment and personality factors
Authors: Saint-Martin Hélène , Dorey Jean-Michel , Herrmann Mathieu , Laurent Bernard , Lebrun-Givois Cécile , Perrot Catherine , Edjolo Arlette , Ouss-Ryngaert Elisabeth , Pongan Elodie , Rouch Isabelle 
Published: March 2024

Abstract
Objectives
The Covid-19 pandemic context may have had numerous effects on the health of older patients with psychiatric disorders (PD), confronting them with a new source of stress and hindering their access to care. The aim of this study was to assess the long-term effects of the pandemic on both chronic pain (CP) and post-traumatic stress (PTS); the comorbidity of the two disorders; and to identify common psychological risk factors.
Design:
Medical interviews were conducted during and after (12 and 18 months later) the first lockdown.
Setting:
The STERACOVID longitudinal cohort study, conducted in two French hospitals.
Participants:
71 patients aged 65 or over; treated in an outpatient psychiatric service; and free of major neurocognitive disorders.
Measurements:
Validated scales were used to assess CP; PTS; personality traits; attachment style; and coping strategies. χ² and Student's t-tests, analyses of variance and logistic regression were used to compare patients with or without CP and/or PTS, in terms of attachment styles, personality traits and coping strategies.
Results
CP and PTS were frequent and often co-occurring at T2. Fearful and preoccupied attachment styles and neurotic and extraverted personality traits were associated with the development of these two disorders; while coping strategies were not determinant.
Conclusions
Our study identified factors associated with a higher risk of developing CP and/or PTS in the pandemic context. Assessment of attachment style and personality traits in clinical routine could help identify patients who are most vulnerable to this type of stress, and prevent the development of disabling chronic conditions.
Mechanical Evaluation and Optimal Mixing Ratios in Co-Disposal of Phosphate Mining Tailings and Waste Rock
Authors: Silva Gabriel Gomes , Silva Rafael Cerqueira 
Published: March 2024

Abstract

Given the complexity of the behavior of mining tailings dams built by the technique of hydraulic embankments and the recurring dam ruptures globally, especially in Brazil, ensuring enhanced safety through advanced disposal techniques becomes crucial. While the co-disposal method has been extensively explored for various mineral substances, a notable gap exists in the literature concerning its application specifically to tailings and waste rock generated from phosphate mining operations. This study aims to identify the optimal ratio for a mining tailings and waste rock mixture and evaluate its mechanical behavior in comparison to individual materials. Geotechnical characterization provided essential data for evaluating the applicability of the co-disposal technique. The mechanical behavior was evaluated with direct shear tests, revealing the substantial influence of waste rock on the mechanical properties of the mixtures. Notably, apparent cohesion in unsaturated conditions demonstrates the suction effect on shear strength in these materials. This comprehensive study contributes valuable insights into optimizing co-disposal practices for phosphate ore mining waste, addressing crucial aspects of safety and mechanical behavior in tailings and waste rock mixtures.
Respiratory Rate Oxygenation (ROX) Index as Predictor of High Flow Nasal Cannula in Pediatric Patients in Pediatric Intensive Care Unit dr Cipto Mangunkusumo Hospital
Authors: Yuniar Irene , Pudjiadi Antonius Hocky , Dewi Rismala , Prawira Yogi , Puspaningtyas Niken Wahyu , Tartila Tartila , Fulki Sharfina 
Published: March 2024

Abstract

Background
High-flow nasal cannula (HFNC) is often used in pediatric populations with respiratory distress. In adults, the respiratory-rate oxygenation (ROX) index is used as a predictor of HFNC therapy; however, children have age-associated differences in respiratory rate, thus may not be applicable to children. This study aims to find the reliability of ROX index and modified P-ROX index as predictors of HFNC therapy failure in pediatric patients.
Methods
Subjects in this analytical cross-sectional study were taken from January 2023 until November 2023 in Cipto Mangunkusumo Hospital. Inclusion criteria are children aged 1 month to 18 years with respiratory distress and got HFNC therapy. Receiver operating characteristics (ROC) analysis was used to find mP-ROX index cutoff value as a predictor of HFNC failure. The area under curve (AUC) score of mP-ROX index was assessed at different time point.
Results
A total of 102 patients, with 70% of the population with pneumonia, were included in this study. There are significant differences in the ROX index between the successful and failed HFNC group therapy (p < 0.05). This study suggests that mP-ROX index is not useful as predictor of HFNC therapy in pediatrics. While ROX index < 5.52 at 60 minutes and < 5.68 at 90 minutes after HFNC initiation have a sensitivity of 90% and specificity of 71%, sensitivity of 78% and specificity of 76%, respectively.
Conclusion
mP-ROX index is not useful as a predictor of HFNC therapy in pediatrics. Meanwhile, ROX index at 60 minutes and 90 minutes after initiation of HFNC is useful as a predictor of HFNC failure.
Colposcopic Biopsy Findings in ASCUS or Normal Cervical Cytology Patients with High-Risk HPV Positivity
Authors: Erdoğan Özgür , Kasap Esin , Ozdaş Emel Doğan , Görgülü Gökşen , Bağcı Mustafa , Sancı Muzaffer , Ayaz Duygu 
Published: March 2024

Abstract

Background: The aim of the present study was to compare colposcopic biopsy results of women in Turkey with normal cervical cytology and Atypical Squamous Cells of Undetermined Significance(ASCUS) who had human papilloma virüs(HPV) genotypes 16,18,and combined 16/18.The overarching goal was to enhance the existing body of evidence on cervical cancer screening strategies, with an ultimate aim of refining HPV testing guidelines and improving patient management.
Methods:In this retrospective study, we examined the medical records of 1121 patients from a tertiary health care setting who tested positive for HPV 16,HPV 18, or both, and who exhibited ASCUS or normal Pap smear findings. A detailed review of the patients' colposcopic biopsy outcomes was conducted, with particular attention to their HPV genotype status and the impact of smoking.
Results: Study involved 1121 patients , the participants were classified based on HPV genotype into three groups: HPV 16 (78.5%), HPV 18 (15.8%),and co-infection with HPV 16 & 18 (5.7%). On the basis of smear characteristics, patients were categorized as normal (81.4%) and ASCUS (18.2%). Notably, for those with normal smear results, the rate of CIN-1 biopsy was approximately 15% higher in the HPV-18 group than the HPV-16 group (59.6% vs. 45.8%; p=0.023).Smoking prevalence was significantly higher in the co-infected HPV 16/18 group (p=0.013).
Conclusion:This study underscores the importance of vigilant HPV and cytology testing, especially for individuals with HPV 16/18, regardless of normal cytology findings.
Stabilization splint combined with multiloop edgewise archwire for treatment of skeletal Class III open bite malocclusion with temporomandibular disorders: a case report with a 6-year follow-up
Authors: Xu Chenjing , Song Dongsheng , Yi Jingzheng , Wang Shaotai , Sun Yue , Chen Yu , Jiang Huan , Hu Min 
Published: March 2024

Abstract
Background: Orthodontists believe that temporomandibular disorders (TMDs), as a group of multifactorial diseases, should be carefully examined before treatment, closely monitored during the process, and maintained stably after treatment. Stabilization splint, as a traditional treatment method, owns the characteristics of low cost and risk compared to joint surgery. This treatment combines traditional stabilization splint and multiloop edgewise archwire (MEAW) techniques, aiming to treat complex clinical cases through non-surgical and non-invasive methods to achieve relatively stable orthodontic outcomes.
Case Presentation: This case report illustrates the two-phase treatment of a 17-year-old male patient characterized by an anterior open bite, Class III malocclusion, mandibular deviation, and severe temporomandibular joint symptoms. In phase one, the patient was provided with a stabilization splint for a duration of 9 months. This initial phase aimed to alleviate symptoms and reposition the condyle by eliminating the locking relationship between the upper and lower teeth, while establishing a new muscular and articular balance. In phase two, the patient underwent multiloop edgewise archwire treatment, which involved the use of a reverse-curve archwire, short class III traction, and anterior vertical traction. After 26 months of treatment, a functional and esthetic occlusion, normal overjet and overbite and a relatively well-balanced facial profile was established. After a 6 years post-treatment follow-up, the results of this case have demonstrated long-term stability.
Conclusion: The report provides substantial evidence supporting the effectiveness and long-term stability of the MEAW appliance in managing these complex clinical scenarios.
Pediatric frequent relapsing nephrotic syndrome with multiple cerebral infarctions accompanied by patent foramen ovale and cerebral venous sinus thrombosis: A case report
Authors: Kiuchi Zentaro , Tanaka Eriko , Nunokawa Saaya , Yoshida Sawako , Hosaki Akira , Kogure Tomohito , Narita Masami 
Published: March 2024

Abstract

Background: Idiopathic nephrotic syndrome (NS) presents as a hypercoagulable state, of which thromboembolism (TE) is a well-known life-threatening complication. Although TE is more likely to occur in venous vessels than arterial vessels, arterial TE is important because it may cause after-effects, including tissue necrosis and cerebral infarction (CI); therefore, prompt diagnosis and appropriate treatment are required. We report a pediatric NS case with multiple CIs.
Case presentation: A 14-year-7-month-old Japanese girl was diagnosed with frequent relapsing NS, accompanied by headache and disturbance of consciousness during the second relapse. Brain magnetic resonance imaging (MRI) and four-dimensional computed tomography revealed multiple CIs, vasogenic edema, and cerebral venous sinus thrombosis (CVST). The patient had no underlying thrombophilia other than hypercoagulability due to NS and prednisolone (PSL), and no cardiac arrhythmia; however, a right-to-left shunt through the patent foramen ovale (PFO) was observed with the Valsalva maneuver by echocardiography. Therefore, we assumed that a potential cause of multiple CIs might be an embolic stroke, caused by thrombosis formed from a hypercoagulable state due to NS and PSL treatment and reached through PFO. Antiplatelet and anticoagulant therapies were administered for TE. She was treated with PSL and mycophenolate mofetil (MMF) for NS. Rituximab (RTX) was administered to prevent NS relapse after complete remission (CR). She underwent transcatheter PFO closure at age 14 years and 9 months because we considered that the right-to-left shunt through the PFO would be one of the risks for recurrent cerebral embolism when NS relapses. One year after the onset of CIs, an MRI indicated that the CVST had resolved, leaving no neurological sequelae due to CI; therefore, anticoagulant therapy was discontinued. And then she has been in CR for NS with only MMF therapy.
Conclusions: CI is a serious complication in patients with NS. The pathogenesis of multiple CIs is various, including right-to-left shunt through PFO, in addition to the hypercoagulability due to NS. It is important to investigate and manage underlying risks such as PFO, besides preventing the relapses of NS by aggressive treatments using MMF and RTX, in patients with NS.