bluuebunny/crossref_metadata_2025_split huggingface dataset:
Non-uniform magnetic fields for collective behavior of self-assembled magnetic pillars
Authors: Huaroto Juan J. , Piñan Basualdo Franco N. , Roos Ariëns Dionne Lisa , Misra Sarthak 
Published: July 2024

AbstractProgrammable and self-assembled magnetic pillars are essential to expanding the application domain of magnetic microparticle collectives. Typically, the collective behavior of self-assembled magnetic pillars is carried out by generating uniform and time-varying magnetic fields. However, magnetic field-shaping capabilities employing non-uniform fields have not been explored for magnetic pillars. In this study, we generate non-uniform magnetic fields using a nine-coil electromagnetic system to achieve object manipulation, upstream/downstream locomotion, and independent actuation. We begin analyzing the static magnetic self-assembly of reduced iron microparticles and experimentally derive the average dimensions (height and diameter) of the resulting pillars. Subsequently, we delve into the collective dynamic response under non-uniform and time-varying magnetic fields, unveiling four distinct modalities. In order to demonstrate the versatility of our approach, we extend our study to the two-dimensional manipulation of a millimeter-sized glass bead using a precessing magnetic field describing a Lissajous curve. Moreover, we showcase the ability of magnetic pillars to adapt to confined and dynamic conditions within fluidic tubes. We finally present a noteworthy case where the nine-coil electromagnetic system independently actuates two clusters of magnetic pillars. Our study shows the potential of using non-uniform magnetic fields to actuate self-assembled magnetic pillars, enabling morphology reconfiguration capabilities, object manipulation, locomotion, and independent actuation.
AutoRAG: Grounding Text and Symbols
Authors: Schulz Tim , Luttermann Malte , Möller Ralf 
Published: July 2024

AbstractIn safety critical domains such as the healthcare domain, systems for natural language question answering demand special correctness guarantees. Modeling problem domains formally allows for automatic transparent reasoning, but handling comprehensive formal models may quickly demand expert knowledge. Ultimately, we need a system which is as easily accessible as large language models while the correctness of its output should be checkable using trusted knowledge. Since words are ambiguous in general but concepts of a formal model are not, we propose to expand the vocabulary of a language model by concepts of a knowledge base: Motivated by retrieval-augmented generation, we introduce AutoRAG, which does not retrieve data from external sources, rather it perceives parts of the knowledge base from special vocabulary, trained by auto-encoding text and concepts. Our AutoRAG implementation for a use case in the field of nosocomial pneumonia describes concepts it associates with the input and can naturally provide a graphical depiction from the expert-made knowledge bas to allow for feasible text sanity checks.
Moisture penetration and distribution characterization of hard coal: a µ-CT study
Authors: Tan Lihai , Ren Ting , Dou Linming , Sun Jian , Yang Xiaohan , Qiao Ming 
Published: July 2024

AbstractMoisture content of rock/coal can change its mechanical properties and absorption capacities, which can directly affect gas diffusivity, change the stress distribution and hence cause significant impacts on the overall gas or coal extraction process. Observation of the water penetration process and water distribution in the coal matrix will be beneficial for the understanding of the fluid-solid coupling mechanism in hydraulic fracturing, aquifer cracking and coal seam infusion. However, the observation of water penetration process and the determination of water distribution mode were hard to be non-destructively achieved as coal is a non-uniform, inhomogeneous and un-transparent material. µ-CT imaging, which is based on variation of X-ray attenuation related to the density and atomic composition of the scanned objects, enables a four-dimensional (spatial-temporal) visualise of the heterogeneous and anisotropic coal samples. The primary aim of this paper is extending the application of µ-CT imaging to explore the moisture penetration and distribution within coal samples during water infusion process, which has been reported by very little literature. The working principle and procedures of CT imaging was firstly introduced. Then, the determination equation of moisture distribution based on density profile was established. The CT determined moisture content has been compared with weighting method for verification. The paper has demonstrated that µ-CT can be used for non-destructively imaging the moisture distribution within coal samples.
Clinical and genetic analysis of Niemann-Pick disease type C with a novel NPC1 variant
Authors: Neissi Mostafa , Al-Badran Adnan Issa , Mohammadi-Asl Misagh , Al-Badran Raed Abdulelah , Sheikh-Hosseini Motahareh , Roghani Mojdeh , Mohammadi-Asl Javad 
Published: July 2024

Abstract
Background
Niemann-Pick disease type C poses a significant challenge within the landscape of rare genetic disorders, marked by its connection to variants in the NPC1 or NPC2 genes. This autosomal recessive lipid storage disorder unfolds with a relentless progression of neurological deterioration and a distinctive hallmark of hepatosplenomegaly.

Case presentation
This case report delves into the intricate presentation of a 9-year-old Iraqi boy exhibiting heightened walking instability and speech slurring. His medical history unfolds a series of challenges, including neonatal hyperbilirubinemia, hepatosplenomegaly, and recurrent nasal bleeding. A comprehensive physical examination reveals motor and neurological abnormalities such as an inability to squat and rise, vertical gaze palsy, and dysdiadochokinesia. Further investigations, encompassing laboratory tests and imaging studies, coupled with the identification of foamy cells in bone marrow smears, raise significant concerns about Niemann-Pick disease type C. By utilizing whole exome sequencing, we pinpointed a previously unreported homozygous variant—c.2925_2928delCTGC; p.Cys976PhefsTer6—found within exon 20 (NM_000271.5) of the proband’s NPC1 gene.

Conclusions
This study significantly advances our understanding of the c.2925_2928del (C976Ffs*6) variant in the NPC1 gene, shedding light on the complexities of Niemann-Pick disease type C. Beyond its scientific significance, the findings provide crucial insights for familial genetic counseling and prenatal diagnoses. This research expands our knowledge of the variant’s genetic landscape, making it a valuable resource in both academic and clinical settings, particularly for families dealing with Niemann-Pick disease type C.
Evaluation of the Water Mass Composition in the Sea of Okhotsk and Its Long‐Term Change Using an Advanced Mapping Technique
Authors: Mensah Vigan , Ohshima Kay I. , Drucker Robert , Riser Stephen 
Published: July 2024

AbstractThe Sea of Okhotsk is a marginal sea that plays a major role in the ventilation of the North Pacific, being the key location where Dense Shelf Water (DSW) forms at the surface and sinks to the intermediate layer. The Okhotsk Sea Intermediate Water (OSIW) is a key water mass because it includes large amounts of DSW, outflows to the North Pacific, and supplies the ocean with the micronutrient iron. OSIW has been warming over the past few decades, which is attributed to a decreasing trend in DSW production. The acquisition of numerous hydrographic data after 2000 in the Kuril Basin, especially dissolved oxygen from profiling floats, offers an opportunity to better quantify the water mass composition of OSIW, and the changes in OSIW properties and DSW volume. Here, we used all available hydrographic records and a mapping technique specially adapted to polar and sub‐polar regions to revisit the Sea of Okhotsk water properties and document their long‐term changes. Our analysis revealed that the volume of heavier DSW (potential density above 26.9 kg.m−3) has decreased over the past three decades by 3,600 km3, or 15% of the volume present before 1990. This decline is nearly entirely compensated for by an increase in lighter DSW. This shift toward lighter DSW is possibly a sign of the weakening of the intermediate overturning circulation starting in the Okhotsk Sea. Additionally, we found that dense Soya Current Water only accounts for about 1% of OSIW, against the 5% previously estimated.
Origins of Low‐Oxygen Bottom Water Influenced by Tide and ENSO on the Outer‐Edge Shelf of East China Sea: Multi‐Chemical Tracer Approaches
Authors: Deng Wenjie , Zhang Jing , Zhu Siteng Justin , Horikawa Keiji , Endoh Takahiro , Matsuno Takeshi , Kondo Yoshiko , Inoue Mutsuo , Nagao Seiya 
Published: July 2024

AbstractThe East China Sea (ECS) is one of the largest marginal seas in the world with high primary productivity and a large area of low dissolved oxygen. This study observed the low‐oxygen bottom water on the outer‐edge shelf of ECS in summer seasons of 2018–2020. The contributions of various water masses to low‐oxygen waters were quantified, and the interaction between low‐oxygen water and Kuroshio water was validated by a mixing model using heavy rare earth elements (HREEs) together with potential temperature, and salinity. For further reliability verification, tracers such as δ34S and 226Ra were additionally utilized to avoid the non‐conservative processes on the shelf area. The low‐oxygen water on the shelf was clarified to be linked to the inner/middle shelf water, and dominated by Kuroshio Subsurface Water (KSSW, 81% ± 3%) and influenced by a non‐negligible extent of pore water (3.0% ± 0.5%). Our findings revealed the transport of low‐oxygen water from the outer‐shelf edge to the Kuroshio area, whose dissolved inorganic nitrogen and dissolved inorganic phosphorus contributions to Kuroshio were 34%–82% and 35%–83%, respectively. The nutrients of low‐oxygen water were regulated primarily by the origins of water and secondarily by organic matter remineralization (DIN: ∼17% and DIP: ∼24%). As control factors, the tide, especially spring tide largely enhanced the water contribution of pore water to low‐oxygen water by 67%, and the El Niño‐Southern Oscillation potentially affected the contributions of KSSW and mid‐shelf water to low‐oxygen water.
The risks for major psychiatric disorders in the siblings of probands with major depressive disorder
Authors: Rhee Sang Jin , Abrahamsson Linda , Sundquist Jan , Sundquist Kristina , Kendler Kenneth S. 
Published: July 2024

AbstractUsing a case-controlled study including siblings of major depression (MD) and control probands, born 1970–1990 and followed through 2018, we sought to clarify the degree to which the familial liability to MD is reflected in its clinical features, and the pattern of psychiatric disorders at elevated risk in the siblings of MD probands. The study population included full-siblings of 197,309 MD and matched 197,309 control probands. The proband-sibling tetrachoric correlation of for MD was +0.20. Both linear and quadratic effects of younger AAO and number of episodes significantly increased the risk of MD in siblings. Male sex, anxiety disorder, alcohol use disorder (AUD), inpatient treatment, psychotic symptoms, severity, and antidepressant prescription in MD probands increased the risk of MD in siblings. Cox proportional hazard models (hazard ratios, 95% CI) revealed a significantly increased risk of attention deficit hyperactivity disorder (1.82, 1.76–1.88), generalized anxiety disorder (1.79, 1.74–1.85), bipolar disorder (1.78, 1.70–1.85), MD (1.74, 1.72–1.76), obsessive-compulsive disorder (1.72, 1.65–1.80), phobic anxiety disorder (1.71, 1.65–1.76), and panic disorder (1.68, 1.64–1.72) in MD co-siblings. The HRs for AUD (1.64, 1.60–1.68), post-traumatic stress disorder (1.62, 1.59–1.66) were modestly lower, and the lowest was seen for schizophrenia (1.42, 1.30–1.54). The overall pattern of increased risk of these disorders was similar in reared-apart half-siblings and cousins of MD probands. Our findings suggest that MD is familial, and a range of important clinical factors predict its familial liability. The familial liability to MD, mostly due to genetic factors, is shared with a broad range of psychiatric disorders.
Assessment of oral health status and quality of life in hearing-impaired children from Syria
Authors: Ghannam Alemar Nazeeh , Dashash Mayssoon , Darjazini Nahhas Louei 
Published: July 2024

Abstract
Aim
This study aimed to evaluate the oral health status of children with hearing impairments and assess the relationship between various oral health factors and the Pediatric Oral Health-Related Quality of Life.

Materials and methods
This observational cohort study involved 90 hearing-impaired children aged 6–12 years. Diagnostic tools such as pure-tone audiometry were used to evaluate their hearing abilities. Dental health was assessed by calculating DMFT, dmft, Plaque and Gingival indices. The oral health-related quality of life was measured using the POHRQoL.

Results
The severity of hearing impairment varied with 3% having severe hearing loss, 13% having profound hearing loss, and 83% having complete hearing loss. A high prevalence of dental cavities with 93% of children affected was found. DMFT score was similar between males and females (2.5 ± 0.3 vs. 2.3 ± 0.3 respectively). Males exhibited a higher mean dmft score (4.1 ± 0.5 vs. 3.3 ± 0.5), and a higher mean Plaque Index (1.9 ± 0.1 vs. 1.5 ± 0.1). On the other hand, females showed a higher mean Gingival Index (0.9 ± 0.1 vs. 1.1 ± 0.2). Results indicated a decreased OHRQoL with a mean POQL score of 6.4 ± 2.89. Spearman’s test revealed a significant positive correlation between POQL total score and DMFT scores (P = 0.000), dmft scores (P = 0.000), Plaque Index scores (P = 0.000), and Gingival Index scores (P = 0.038). There was a weak positive correlation between hearing impairment severity and POQL total score, it was not statistically significant.

Conclusions
Children who have hearing impairments exhibit poor oral health, and levels of dental caries, which can negatively impact their overall POHRQoL. Therefore, it is highly recommended to start specialized oral health education and comprehensive dental care programs to improve their OHRQoL.
Inhibition of PKC-δ retards kidney fibrosis via inhibiting cGAS-STING signaling pathway in mice
Authors: Wang Dongyun , Li Yue , Li Guiying , Liu Mengyu , Zhou Zihui , Wu Ming , Song Shan , Bian Yawei , Dong Jiajia , Li Xinran , Du Yunxia , Zhang Tao , Shi Yonghong 
Published: July 2024

AbstractKidney fibrosis is considered to be the ultimate aggregation pathway of chronic kidney disease (CKD), but its underlying mechanism remains elusive. Protein kinase C-delta (PKC-δ) plays critical roles in the control of growth, differentiation, and apoptosis. In this study, we found that PKC-δ was highly upregulated in human biopsy samples and mouse kidneys with fibrosis. Rottlerin, a PKC-δ inhibitor, alleviated unilateral ureteral ligation (UUO)-induced kidney fibrosis, inflammation, VDAC1 expression, and cGAS-STING signaling pathway activation. Adeno-associated virus 9 (AAV9)-mediated VDAC1 silencing or VBIT-12, a VDAC1 inhibitor, attenuated renal injury, inflammation, and activation of cGAS-STING signaling pathway in UUO mouse model. Genetic and pharmacologic inhibition of STING relieved renal fibrosis and inflammation in UUO mice. In vitro, hypoxia resulted in PKC-δ phosphorylation, VDAC1 oligomerization, and activation of cGAS-STING signaling pathway in HK-2 cells. Inhibition of PKC-δ, VDAC1 or STING alleviated hypoxia-induced fibrotic and inflammatory responses in HK-2 cells, respectively. Mechanistically, PKC-δ activation induced mitochondrial membrane VDAC1 oligomerization via direct binding VDAC1, followed by the mitochondrial DNA (mtDNA) release into the cytoplasm, and subsequent activated cGAS-STING signaling pathway, which contributed to the inflammation leading to fibrosis. In conclusion, this study has indicated for the first time that PKC-δ is an important regulator in kidney fibrosis by promoting cGAS-STING signaling pathway which mediated by VDAC1. PKC-δ may be useful for treating renal fibrosis and subsequent CKD.
Genetic therapies for cardiomyopathy: survey of attitudes of the patient community for the CureHeart project
Authors: Ormondroyd Elizabeth , Grace Christopher , Borsari Wendy , Goel Anuj , McDonough Barbara , Rose Joel , Seidman Christine , Watkins Hugh 
Published: July 2024

AbstractCardiomyopathies are a group of inherited heart muscle disorders. Expressivity is variable and while sometimes mild, complications can result in sudden cardiac death (SCD) at any age, heart failure and stroke. In around a third of patients a monogenic cause is identifiable, and development of genetic therapies that aim to correct the underlying genetic defect is underway. Here we describe results of a survey designed to understand preliminary views of the patient community about genetic therapies in the context of disease burden. The internet survey was publicized with a bespoke information video via patient support groups in the UK and USA; 634 people responded of whom 96% had a personal and/or family history of cardiomyopathy. Findings show that concern about cardiomyopathy-related issues with a future dimension, such as disease progression, is significantly greater than concern about current issues. A total of 93.6% thought that genetic therapies should be developed for cardiomyopathy. A majority would consider participation in a genetic therapy trial in six scenarios varying by age and clinical situation significantly more in the scenario of an adult with symptomatic disease and evident progression than an asymptomatic adult with SCD risk, or a child. In all scenarios, a majority said that the chance genetic therapy would stop or slow progression, and risk of serious adverse and unintended effects, were important considerations. Qualitative analysis of free-text responses found that concern was often informed by family experience. Patient consideration of genetic therapy is likely to require individualized assessment of the benefits and risks.
The human VGLUT3-pT8I mutation elicits uneven striatal DA signaling, food or drug maladaptive consumption in male mice
Authors: Favier Mathieu , Martin Garcia Elena , Icick Romain , de Almeida Camille , Jehl Joachim , Desplanque Mazarine , Zimmermann Johannes , Henrion Annabelle , Mansouri-Guilani Nina , Mounier Coline , Ribeiro Svethna , Henderson Fiona , Geoffroy Andrea , Mella Sebastien , Poirel Odile , Bernard Véronique , Fabre Véronique , Li Yulong , Rosenmund Christian , Jamain Stéphane , Vorspan Florence , Mourot Alexandre , Duriez Philibert , Pinhas Leora , Maldonado Rafael , Pietrancosta Nicolas , Daumas Stéphanie , El Mestikawy Salah 
Published: July 2024

AbstractCholinergic striatal interneurons (ChIs) express the vesicular glutamate transporter 3 (VGLUT3) which allows them to regulate the striatal network with glutamate and acetylcholine (ACh). In addition, VGLUT3-dependent glutamate increases ACh vesicular stores through vesicular synergy. A missense polymorphism, VGLUT3-p.T8I, was identified in patients with substance use disorders (SUDs) and eating disorders (EDs). A mouse line was generated to understand the neurochemical and behavioral impact of the p.T8I variant. In VGLUT3T8I/T8I male mice, glutamate signaling was unchanged but vesicular synergy and ACh release were blunted. Mutant male mice exhibited a reduced DA release in the dorsomedial striatum but not in the dorsolateral striatum, facilitating habit formation and exacerbating maladaptive use of drug or food. Increasing ACh tone with donepezil reversed the self-starvation phenotype observed in VGLUT3T8I/T8I male mice. Our study suggests that unbalanced dopaminergic transmission in the dorsal striatum could be a common mechanism between SUDs and EDs.
Diversity of visual inputs to Kenyon cells of the Drosophila mushroom body
Authors: Ganguly Ishani , Heckman Emily L. , Litwin-Kumar Ashok , Clowney E. Josephine , Behnia Rudy 
Published: July 2024

AbstractThe arthropod mushroom body is well-studied as an expansion layer representing olfactory stimuli and linking them to contingent events. However, 8% of mushroom body Kenyon cells in Drosophila melanogaster receive predominantly visual input, and their function remains unclear. Here, we identify inputs to visual Kenyon cells using the FlyWire adult whole-brain connectome. Input repertoires are similar across hemispheres and connectomes with certain inputs highly overrepresented. Many visual neurons presynaptic to Kenyon cells have large receptive fields, while interneuron inputs receive spatially restricted signals that may be tuned to specific visual features. Individual visual Kenyon cells randomly sample sparse inputs from combinations of visual channels, including multiple optic lobe neuropils. These connectivity patterns suggest that visual coding in the mushroom body, like olfactory coding, is sparse, distributed, and combinatorial. However, the specific input repertoire to the smaller population of visual Kenyon cells suggests a constrained encoding of visual stimuli.