bluuebunny/crossref_metadata_2025_split huggingface dataset:
Parkinson’s disease neurons exhibit alterations in mitochondrial quality control proteins
Authors: Chen Chun , McDonald David , Blain Alasdair , Mossman Emily , Atkin Kiera , Marusich Michael F. , Capaldi Roderick , Bone Laura , Smith Anna , Filby Andrew , Erskine Daniel , Russell Oliver , Hudson Gavin , Vincent Amy E. , Reeve Amy K. 
Published: August 2023

AbstractMitochondrial dysfunction has been suggested to contribute to Parkinson’s disease pathogenesis, though an understanding of the extent or exact mechanism of this contribution remains elusive. This has been complicated by challenging nature of pathway-based analysis and an inability simultaneously study multiple related proteins within human brain tissue. We used imaging mass cytometry (IMC) to overcome these challenges, measuring multiple protein targets, whilst retaining the spatial relationship between targets in post-mortem midbrain sections. We used IMC to simultaneously interrogate subunits of the mitochondrial oxidative phosphorylation complexes, and several key signalling pathways important for mitochondrial homoeostasis, in a large cohort of PD patient and control cases. We revealed a generalised and synergistic reduction in mitochondrial quality control proteins in dopaminergic neurons from Parkinson’s patients. Further, protein-protein abundance relationships appeared significantly different between PD and disease control tissue. Our data showed a significant reduction in the abundance of PINK1, Parkin and phosphorylated ubiquitinSer65, integral to the mitophagy machinery; two mitochondrial chaperones, HSP60 and PHB1; and regulators of mitochondrial protein synthesis and the unfolded protein response, SIRT3 and TFAM. Further, SIRT3 and PINK1 did not show an adaptive response to an ATP synthase defect in the Parkinson’s neurons. We also observed intraneuronal aggregates of phosphorylated ubiquitinSer65, alongside increased abundance of mitochondrial proteases, LONP1 and HTRA2, within the Parkinson’s neurons with Lewy body pathology, compared to those without. Taken together, these findings suggest an inability to turnover mitochondria and maintain mitochondrial proteostasis in Parkinson’s neurons. This may exacerbate the impact of oxidative phosphorylation defects and ageing related oxidative stress, leading to neuronal degeneration. Our data also suggest that that Lewy pathology may affect mitochondrial quality control regulation through the disturbance of mitophagy and intramitochondrial proteostasis.
Dataset on the psychosocial impact in families with children with developmental and epileptic encephalopathies
Authors: Salom Rafael , Aras Luís Miguel , Piñero Jessica , Duñabeitia Jon Andoni 
Published: August 2023

AbstractCaring for children with developmental and epileptic encephalopathies (DEE) can be challenging for primary caregivers due to the complexity of the condition and the need to provide ongoing care. This has a psychosocial impact on their quality of life, including increased stress, anxiety, and depression, as well as an impact on their support network, work, and relationship with the affected child. It is important that caregivers receive help to manage the psychosocial impact of caring for a child with DEE and promote their long-term well-being. Besides, it is critical that policymakers receive quantitative data about this impact to adequately respond to the needs of these families. To this end, a database was developed using the Childhood Rare Epilepsy Social Impact Assessment (CRESIA) psychosocial impact measurement instrument to quantitatively assess the quality of life of caregivers.
Synthesis of a novel multifunctional organic–inorganic nanocomposite for metal ions and organic dye removals
Authors: Elmekawy Ahmed , Quach Qui , Abdel-Fattah Tarek M. 
Published: August 2023

AbstractIn this study, we used solvent assisted mechano-synthesis strategies to form multifunctional organic–inorganic nanocomposites capable of removing both organic and inorganic contaminants. A zeolite X (Ze) and activated carbon (AC) composite was synthesized via state-of-the-art mechanical mixing in the presence of few drops of water to form Ze/AC. The second composite (Ze/L/AC) was synthesized in a similar fashion, however this composite had the addition of disodium terephthalate as a linker. Both materials, Ze/AC and Ze/L/AC, were characterized using scanning electron microscope (SEM), energy-dispersive X-ray spectroscopy (EDS), Powdered X-ray diffraction (P-XRD), Fourier-transform infrared spectrometry (FTIR), Accelerated Surface Area and Porosimetry System (ASAP), and thermal gravimetric analysis (TGA). The SEM–EDS displayed the surface structure and composition of each material. The sodium, oxygen and carbon contents increased after linker connected Ze and AC. The P-XRD confirmed the crystallinity of each material as well as the composites, while FTIR indicated the function groups (C=C, O–H) in Ze/L/AC. The contaminant adsorption experiments investigated the effects of pH, temperature, and ionic strength on the adsorption of methylene blue (MB) and Co(II) for each material. In MB adsorption, the first-order reaction rate of Ze/L/AC (0.02 h−1) was double that of Ze/AC (0.01 h−1). The reaction rate of Ze/L/AC (4.8 h−1) was also extraordinarily higher than that of Ze/AC (0.6 h−1) in the adsorption of Co(II). Ze/L/AC composite achieved a maximum adsorption capacity of 44.8 mg/g for MB and 66.6 mg/g for Co(II) ions. The MB adsorption of Ze/AC and Ze/L/AC was best fit in Freundlich model with R2 of 0.96 and 0.97, respectively, which indicated the multilayer adsorption. In the Co(II) adsorption, the data was highly fit in Langmuir model with R2 of 0.94 and 0.92 which indicated the monolayer adsorption. These results indicated both materials exhibited chemisorption. The activation energy of Ze/L/AC in MB adsorption (34.9 kJ mol−1) was higher than that of Ze/L/AC in Co (II) adsorption (26 kJ mol−1).
Risk factors, classification, and operative choices of femur fractures at a Tertiary Hospital: first report from Somalia
Authors: Ibrahim Yasin Barkhad , Mohamed Abdullahi Yusuf , Ibrahim Hassan Salad , Mohamed Abdulkhalek Hassan , Cici Hakan , Mohamed Yahye Garad , Yasin Nor Abdi , May Hasan 
Published: August 2023

AbstractA traumatic femur fracture is a significant cause of morbidity, affecting one to three million individuals annually. The present is the first study investigated the epidemiological characteristics, risk factors, classification, mechanisms of injury, and early management of femoral fractures in Somalia. This retrospective epidemiological study included all patients with a femur fracture who were admitted for four years between November 2018 and December 2022 to the orthopedic and trauma surgery department. We reviewed patient demographic characteristics, including age and gender, the mechanism of injury, injury characteristics, and the type of fixation performed. We reviewed the radiographs and classified the fracture using the AO/OTA classification system. During the study period, a total of 402 patients were treated for femur fractures; 256 (64%) were males, and 144 (36%) were females. The mean patient age was 47.7 ± 8.5 years. Regarding the anatomical location of femur fractures, the proximal (31A, 31B) was the most common, accounting for 50% of the patients. Femur neck fracture (31B) was the most common in the proximal femur fractures. Gunshot 82 (59.42%) was the leading cause of femur shaft fractures. Most patients with femur shaft fractures were males; 150 (86.20%) and 152 (64.47%) were young patients between 19 and 40 years old. Almost half of the patients (86) with femur shaft fractures had open fractures. The distribution of the mechanism of injury significantly differed according to age (p < 0.001). Younger patients (< 40 years) were predominantly injured due to gunshot injuries compared to elderly cases (> 60 years), where falls from standing height were the primary mechanism of injuries. There was a statistically significant difference between the mechanism of injury and gender categories (p < 0.001). Male patients were injured mainly by gunshots in about 40%, while 80% of fractures in female patients were due to falls from standing height. Female fractures occurred primarily in the proximal, while the males had an equal fracture rate for proximal and shaft fractures. Femur fracture causes significant morbidity and mortality. The study findings revealed that the most common femur fracture type was femur neck fracture, and low-energy injuries were the most common mode of injury in the elderly. Proximal femur fractures occur in older age and mainly in females. Gunshots were the most common cause of femur shaft fractures in Somalia, a country that has struggled with wars for over 30 years.
A modified BG-Sentinel trap equipped with FTA card as a novel tool for mosquito-borne disease surveillance: a field test for flavivirus detection
Authors: Manzi Sara , Nelli Luca , Fortuna Claudia , Severini Francesco , Toma Luciano , Di Luca M. , Michelutti Alice , Bertola Michela , Gradoni Francesco , Toniolo Federica , Sgubin Sofia , Lista Florigio , Pazienza Michele , Montarsi Fabrizio , Pombi Marco 
Published: August 2023

AbstractEarly detection of pathogens in vectors is important in preventing the spread of arboviral diseases, providing a timely indicator of pathogen circulation before outbreaks occur. However, entomological surveillance may face logistical constraints, such as maintaining the cold chain, and resource limitations, such as the field and laboratory workload of mosquito processing. We propose an FTA card-based trapping system that aims to simplify both field and laboratory phases of arbovirus surveillance. We modified a BG-Sentinel trap to include a mosquito collection chamber and a sugar feeding source through an FTA card soaked in a long-lasting viscous solution of honey and hydroxy-cellulose hydrogel. The FTA card ensures environmental preservation of nucleic acids, allowing continuous collection and feeding activity of specimens for several days and reducing the effort required for viral detection. We tested the trap prototype during two field seasons (2019 and 2021) in North-eastern Italy and compared it to CDC-CO2 trapping applied in West Nile and Usutu virus regional surveillance. Collections by the BG-FTA approach detected high species diversity, including Culex pipiens, Aedes albopictus, Culex modestus, Anopheles maculipennis sensu lato and Ochlerotatus caspius. When used for two-days sampling, the BG-FTA trap performed equally to CDC also for the WNV-major vector Cx. pipiens. The FTA cards detected both WNV and USUV, confirming the reliability of this novel approach to detect viral circulation in infectious mosquitoes. We recommend this surveillance approach as a particularly useful alternative in multi-target surveillance, for sampling in remote areas and in contexts characterized by high mosquito densities and diversity.
Macular superficial vascular density on optical coherence tomography angiography in children with unilateral anisometropic and bilateral hyperopic amblyopia
Authors: Chung Yeon Woong , Shin Sun Young , Yim Hye Bin 
Published: August 2023

AbstractWe analyzed whether macular superficial vascular density (SVD) and foveal vascular zone (FAZ) on optical coherence tomography angiography (OCTA) can distinguish between bilateral ametropic and anisometropic amblyopia. We included 42, 33, and 50 eyes in the bilateral ametropic amblyopia, anisometropic amblyopia, and normal control groups, respectively. Using macular swept-source optical coherence tomography angiography, we measured and analyzed the superficial FAZ areas and five sectoral macular SVDs after magnification correction. The anisometropic amblyopic eye group showed significantly increased foveal SVDs (p < 0.001) and significantly decreased superficial FAZ areas (p < 0.001), compared with the remaining groups. Additionally, the bilateral ametropic amblyopia group had significantly decreased nasal SVDs. SVDs and superficial FAZ areas differed among hyperopic amblyopia subtypes. These findings may reflect vascular distribution differences and macular changes in hyperopic amblyopia subtypes compared with normal eyes.
Pre-stroke glycemic variability estimated by glycated albumin predicts hematoma expansion and poor outcomes in patients with spontaneous intracerebral hemorrhage
Authors: Lee Sang-Hwa , Sohn Jong-Hee , Kim Chulho , Kim Yeo Jin , Jeon Jin Pyeong , Yang Jinseo , Park So Young , Choi Hyuk Jai 
Published: August 2023

AbstractGlycemic variability has been shown to be correlated more with oxidative stress than chronic hyperglycemia. We evaluated the impact of pre-stroke glycemic variability measured using glycated albumin (GA) on hematoma expansion and clinical outcomes following spontaneous intracerebral hemorrhage (ICH). We consecutively enrolled 343 patients with ICH for 72 months using a single-center registry database. The primary outcome measure was hematoma expansion. The secondary outcome measures were early neurological deterioration (END), 1-month mortality, and 3-month poor functional outcomes (modified Rankin scale score of 4–6). The patients were divided into two groups based on pre-stroke glycemic variability: a higher GA group (GA ≥ 16.0%) and a lower GA group (GA < 16.0%). During the study period, there were 63 (18.4%) events of hematoma expansion, 61 (17.8%) of END, 45 (13.1%) of 1-month mortality, and 45 (13.1%) of 3-month poor functional outcomes after ICH. The higher GA group (36.4%) had higher rates of hematoma expansion, END, 1-month mortality, and 3-month poor functional outcomes than the lower GA group. Multivariate analysis showed that a higher GA level was significantly associated with increased hematoma expansion (adjusted odds ratio 5.83; 95% confidence interval [CI] 2.58–13.19, p < 0.001). The area under the receiver operating characteristic curve of GA (0.83; 95% CI 0.48–0.65) for predicting hematoma expansion was higher than that of glycated hemoglobin (0.57; 95% CI 0.48–0.65, p for DeLong’s pairwise comparison < 0.001). Higher GA levels could be a reliable marker for predicting hematoma expansion and poor outcomes following ICH.
Disparities in cannabis use and documentation in electronic health records among children and young adults
Authors: Tavabi Nazgol , Raza Marium , Singh Mallika , Golchin Shahriar , Singh Harsev , Hogue Grant D. , Kiapour Ata M. 
Published: August 2023

AbstractThe legalizations of medical and recreational cannabis have generated a great deal of interest in studying the health impacts of cannabis products. Despite increases in cannabis use, its documentation during clinical visits is not yet mainstream. This lack of information hampers efforts to study cannabis’s effects on health outcomes. A clear and in-depth understanding of current trends in cannabis use documentation is necessary to develop proper guidelines to screen and document cannabis use. Here we have developed and used a natural language processing pipeline to evaluate the trends and disparities in cannabis documentation. The pipeline includes a screening step to identify clinical notes with cannabis use documentation which is then fed into a BERT-based classifier to confirm positive use. This pipeline is applied to more than 23 million notes from a large cohort of 370,087 patients seen in a high-volume multi-site pediatric and young adult clinic over a period of 21 years. Our findings show a very low but growing rate of cannabis use documentation (<2%) in electronic health records with significant demographic and socioeconomic disparities in both documentation and positive use, which requires further attention.
Investigating the amplitude and rotation of the phase spiral in the Milky Way outer disc
Authors: Alinder S. , McMillan P. J. , Bensby T. 
Published: August 2023

Context. With data releases from the astrometric space mission Gaia, exploration of the structure of the Milky Way is now possible in unprecedented detail, and has unveiled many previously unknown structures in the Galactic disc and halo. One such feature is the Gaia phase spiral where the stars in the Galactic disc form a spiral density pattern in the Z − VZ plane. Many questions regarding the phase spiral remain, particularly how its amplitude and rotation change with position in the Galaxy.
Aims. We aim to characterize the shape, rotation, amplitude, and metallicity of the phase spiral in the outer disc of the Milky Way. This will allow us to better understand which physical processes caused the phase spiral and may provide further clues as to the Milky Way’s past and the events that contributed to its current state.
Methods. We use Gaia data release 3 (DR3) to get full position and velocity data on approximately 31.5 million stars, and metallicity for a subset of them. We then compute the angular momenta of the stars and develop a model to characterise the phase spiral in terms of amplitude and rotation at different locations in the disc.
Results. We find that the rotation angle of the phase spiral changes with Galactic azimuth and galactocentric radius, making the phase spiral appear to rotate about 3° per degree in Galactic azimuth. Furthermore, we find that the phase spiral in the 2200 − 2400 kpc km s−1 range of angular momentum is particularly strong compared to the phase spiral that can be observed in the solar neighbourhood. The metallicity of the phase spiral appears to match that of the field stars of the Milky Way disc.
Conclusions. We created a new model capable of fitting several key parameters of the Gaia phase spiral. We have been able to determine the rotation rate of the phase spiral to be about 3° per degree in Galactic azimuth. We find a maximum in the amplitude of the phase spiral at LZ ≈ 2300 km kpc s−1, which makes the phase spiral clearly visible. These results provide insights into the physical processes that led to the formation of the phase spiral and contribute to our understanding of the Milky Way’s past and present state.
Un exemple d’intégration numérique des coefficients de poussée et de butée en milieux pesants
Authors: Burlon Sébastien 
Published: August 2023

La détermination des coefficients de poussée et de butée constitue encore un enjeu majeur pour le dimensionnement des murs et des écrans de soutènement. Il est d’usage de déterminer ces coefficients en milieux pesants au moyen des tables de Caquot et Kerisel (1948) [Caquot A, Kerisel J. 1948. Tables de butée, de poussée et de force portante des fondations. Paris : Gauthier-Villars.] et Kerisel et Absi (1990) [Kerisel J, Absi E. 1990. Tables de poussée et de butée des terres. Paris : Presse de l’École Nationale des Ponts et Chaussées.] dont les valeurs sont calculées à partir de la théorie de Boussinesq (1876) [Boussinesq J. 1876. Essai théorique sur l’équilibre des massifs pulvérulents comparé à celui des massifs solides et sur la poussée des terres sans cohésion. Bruxelles : Hayez.]. Afin d’illustrer pratiquement la résolution des équations différentielles de cette théorie, cet article présente un exemple de méthode d’intégration numérique en exposant les différentes étapes suivies. Les résultats de cette méthode sont comparés à ceux de Caquot, Kerisel et Absi d’une part et de Sokolowski (1965) [Sokolowski VV. 1965. Statics of granular media. Oxford: Pergamon Press.] d’autre part. L’objectif est de revenir de manière originale et vulgarisée sur un problème complexe dont les sources sont de plus en plus rarement mises en avant. Il s’agit ainsi de permettre à chaque ingénieur qui utilise presque quotidiennement les valeurs des coefficients de poussée et de butée de mieux saisir leur origine et leur sens physique en se reportant le cas échéant à l’œuvre originale de Caquot et Kerisel (1949) [Caquot A, Kerisel, J. 1949. Traité de mécanique des sols. Paris : Gauthier-Villars.].
Umgang mit erhöhten Ferkelverlusten nach Auftreten von
exsudativer Epidermitis – ein Fallbericht
Authors: Brimmers Lutz , Buch Juhle , Harlizius Jürgen , Kuczka Annette , Kleinmans Michael , Ladinig Andrea , Kreutzmann Heinrich 
Published: August 2023

ZusammenfassungExsudative Epidermitis (EE) – meist, aber nicht ausschließlich
ausgelöst durch Staphylococcus (St.) hyicus – ist ein
verbreitetes Problem auf Ferkelerzeugerbetrieben. So auch in einem westdeutschen
eigenremontierenden Betrieb mit 350 produktiven Sauen. Beginnend mit
schwärzlich-schuppigen Hautläsionen bei einzelnen Saug- und
Aufzuchtferkeln sowie Jung- und Altsauen, bestand bereits in der
nächsten Absetzgruppe bei etwa 50% der Ferkel die klinische
Verdachtsdiagnose der EE. Die Mortalitätsrate im Aufzuchtstall stieg bei
betroffenen Ferkelgruppen auf 10%. Sowohl die (histo)pathologische
Untersuchung als auch der wiederholte Nachweis von St. hyicus aus
Hauttupfern sowie Tupfern aus anderen Organen bestätigten die klinische
Verdachtsdiagnose. Neben St. hyicus konnte aus einzelnen Hauttupfern
zudem St. chromogenes isoliert werden. In der weiterführenden
Charakterisierung der St. hyicus-Stämme wurden ExhA und SHETA als
beteiligte Toxine identifiziert, und die Isolate zeigten unter anderem
Resistenzen gegen Penicilline und Aminopenicilline. Kurzfristig verbesserte eine
bestandsweise antibiotische Therapie mit einem Trimethoprim-Sulfadiazin-haltigen
Präparat in Kombination mit der individuellen Behandlung einzelner Tiere
und dem Waschen mit einer jodhaltigen Lösung die klinische Symptomatik.
Zur dauerhaften Reduktion des Einsatzes antibiotischer Mittel wurde sich
für die Herstellung eines bestandsspezifischen Impfstoffs mit den
isolierten St. hyicus- und St. chromogenes-Stämmen
entschieden, welcher als Mutterschutzvakzine an die Sauen appliziert wurde.
Zusätzlich wurde die externe und interne Biosicherheit anhand eines
objektiven Fragebogens (Bio-check.UGentTM) evaluiert und angepasst.
Die Kombination der Maßnahmen führte zu einer langfristigen
Besserung des klinischen Geschehens. Das erneute Auftreten leichter
Hautläsionen bei einzelnen Ferkeln konnte mit der Anpassung des
bestandsspezifischen Impfstoffes durch neu gewonnene St. hyicus-Isolate
zielführend in den Griff bekommen werden. Der Fallbericht verdeutlicht,
wie mit der Kombination aus kontinuierlichem Monitoring, Einzeltier- und
Gruppentherapie, Evaluierung der Biosicherheit und dem Einsatz einer
angemessenen Immunprophylaxe selbst hartnäckige Fälle der EE auf
ein Minimum reduziert werden können.
Neonatal Onset Distal Renal Tubular Acidosis: Description of Two Novel Variants on the ATP6V0A4 Gene and Review of the Literature on Associated Extrarenal Manifestations
Authors: Antoniadi Marita , Lambrou Dimitra , Mylona Fani , Florentin Lina , Bili Chrysanthi , Stefanidis Constantinos J. , Kostaridou Stavroula 
Published: August 2023

AbstractDistal renal tubular acidosis (dRTA) is an extremely rare disease that affects the distal tubule's ability to excrete proton cations, acidify urine, and maintain the acid–base balance. The clinical presentation of dRTA typically includes normal anion gap metabolic acidosis with decreased serum bicarbonate levels, hypokalemia, hypercalcemia, nephrocalcinosis, and alkaline urine. Hereditary causes of dRTA include pathogenic variants in ATP6V1B1, ATP6V0A4, SLC4A1, FOXI1, and WDR72 genes, which encode different transmembrane proteins on the apical surface of type A intercalated cells in the distal tubule. Variants in these genes lead to various defects in the function of the encoded proteins and can also account for extrarenal manifestations of dRTA due to the expression of these proteins in other organs, such as the stria vascularis of the inner ear. However, the literature on extrarenal manifestations, associated renal complications of hereditary dRTA, and appropriate investigations, and follow-up for patients with dRTA is scarce. In this article, we present a challenging case of neonatal-onset dRTA and contribute two novel variants of the ATP6V0A4 gene and a novel phenotype associated with a pathogenic variant on ATP6V0A4 to the scientific community. We also review the existing literature on hereditary causes of dRTA, with emphasis on associated renal and extrarenal complications.