bluuebunny/crossref_metadata_2025_split huggingface dataset:
Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly
Authors: Uctepe Eyyup , Vona Barbara , Esen Fatma Nisa , Sonmez F. Mujgan , Smol Thomas , Tümer Sait , Mancılar Hanifenur , Geylan Durgun Dilan Ece , Boute Odile , Moghbeli Meysam , Ghayoor Karimiani Ehsan , Hashemi Narges , Bakhshoodeh Behnoosh , Kim Hyung Goo , Maroofian Reza , Yesilyurt Ahmet 
Published: October 2023

AbstractLissencephaly (LIS) is a malformation of cortical development due to deficient neuronal migration and abnormal formation of cerebral convolutions or gyri. Thirty-one LIS-associated genes have been previously described. Recently, biallelic pathogenic variants in CRADD and PIDD1, have associated with LIS impacting the previously established role of the PIDDosome in activating caspase-2. In this report, we describe biallelic truncating variants in CASP2, another subunit of PIDDosome complex. Seven patients from five independent families presenting with a neurodevelopmental phenotype were identified through GeneMatcher-facilitated international collaborations. Exome sequencing analysis was carried out and revealed two distinct novel homozygous (NM_032982.4:c.1156delT (p.Tyr386ThrfsTer25), and c.1174 C > T (p.Gln392Ter)) and compound heterozygous variants (c.[130 C > T];[876 + 1 G > T] p.[Arg44Ter];[?]) in CASP2 segregating within the families in a manner compatible with an autosomal recessive pattern. RNA studies of the c.876 + 1 G > T variant indicated usage of two cryptic splice donor sites, each introducing a premature stop codon. All patients from whom brain MRIs were available had a typical fronto-temporal LIS and pachygyria, remarkably resembling the CRADD and PIDD1-related neuroimaging findings. Other findings included developmental delay, attention deficit hyperactivity disorder, hypotonia, seizure, poor social skills, and autistic traits. In summary, we present patients with CASP2-related ID, anterior-predominant LIS, and pachygyria similar to previously reported patients with CRADD and PIDD1-related disorders, expanding the genetic spectrum of LIS and lending support that each component of the PIDDosome complex is critical for normal development of the human cerebral cortex and brain function.
A DNA turbine powered by a transmembrane potential across a nanopore
Authors: Shi Xin , Pumm Anna-Katharina , Maffeo Christopher , Kohler Fabian , Feigl Elija , Zhao Wenxuan , Verschueren Daniel , Golestanian Ramin , Aksimentiev Aleksei , Dietz Hendrik , Dekker Cees 
Published: October 2023

AbstractRotary motors play key roles in energy transduction, from macroscale windmills to nanoscale turbines such as ATP synthase in cells. Despite our abilities to construct engines at many scales, developing functional synthetic turbines at the nanoscale has remained challenging. Here, we experimentally demonstrate rationally designed nanoscale DNA origami turbines with three chiral blades. These DNA nanoturbines are 24–27 nm in height and diameter and can utilize transmembrane electrochemical potentials across nanopores to drive DNA bundles into sustained unidirectional rotations of up to 10 revolutions s−1. The rotation direction is set by the designed chirality of the turbine. All-atom molecular dynamics simulations show how hydrodynamic flows drive this turbine. At high salt concentrations, the rotation direction of turbines with the same chirality is reversed, which is explained by a change in the anisotropy of the electrophoretic mobility. Our artificial turbines operate autonomously in physiological conditions, converting energy from naturally abundant electrochemical potentials into mechanical work. The results open new possibilities for engineering active robotics at the nanoscale.
Mediated interactions between Fermi polarons and the role of impurity quantum statistics
Authors: Baroni Cosetta , Huang Bo , Fritsche Isabella , Dobler Erich , Anich Gregor , Kirilov Emil , Grimm Rudolf , Bastarrachea-Magnani Miguel A. , Massignan Pietro , Bruun Georg M. 
Published: October 2023

AbstractThe notion of quasi-particles is essential for understanding the behaviour of complex many-body systems. A prototypical example of a quasi-particle is a polaron, formed by an impurity strongly interacting with a surrounding medium. Fermi polarons, created in a Fermi sea, provide a paradigmatic realization of this concept. Importantly, such quasi-particles interact with each other via the modulation of the medium. However, although quantum simulation experiments with ultracold atoms have substantially improved our understanding of individual polarons, the detection of their interactions has so far remained elusive. Here we report the observation of mediated interactions between Fermi polarons consisting of K impurities embedded in a Fermi sea of Li atoms. Our results confirm two predictions of Landau’s Fermi-liquid theory: the shift in polaron energy due to mediated interactions, which is linear in the concentration of impurities; and its sign inversion with impurity quantum statistics. For weak-to-moderate interactions between the impurities and the medium, our results agree with the static predictions of Fermi-liquid theory. For stronger impurity–medium interactions, we show that the observed behaviour at negative energies can be explained by a more refined many-body treatment including retardation and dressed molecule formation.
Dry growing seasons predicted Central American migration to the US from 2012 to 2018
Authors: Linke Andrew , Leutert Stephanie , Busby Joshua , Duque Maria , Shawcroft Matthew , Brewer Simon 
Published: October 2023

AbstractControlling for factors such as criminal violence and poverty, we tested if drier than usual growing season weather was a predictor of emigration from El Salvador, Guatemala, and Honduras to the US between 2012 and 2018. We focus on growing season weather because agriculture is a primary transmission pathway from the effects of climate change upon migration. We secured the migration apprehensions data for our analysis through a FOIA request to US Customs and Border Protection. Border Patrol intake interviews recorded the original home location of families that arrived at the southern US border. We used this geographic information to measure recent weather patterns and social circumstances in the area that each family departed. We found 70.7% more emigration to the US when local growing seasons in Central America were recently drier than the historical average since 1901.
General population normative data from seven European countries for the K10 and K6 scales for psychological distress
Authors: Lehmann J. , Pilz M. J. , Holzner B. , Kemmler G. , Giesinger J. M. 
Published: October 2023

AbstractThe 10-item Kessler Psychological Distress scale (K10) and its 6-item short-form version (K6) measure psychological distress, particularly anxiety or depressive symptoms. While these questionnaire scales are widely used in various settings and populations, general population normative data are rarely available. To facilitate the interpretation of K10 and K6 scores, we provide normative general population data from seven European countries. We used an online survey to collect K10 data from general population samples in Austria, Italy, Germany, France, the Netherlands, Poland and Spain. We calculated the age- and sex-specific normative values separately for each country. For more specific estimates of K10 and K6 scores for individuals or groups, we also established a multivariable regression model based on socio-demographic and health data. In total, N = 7,087 adults participated in our study (51.6% women; mean age, 49.6 years). The mean K10 score in the total sample was 8.5 points (standard deviation, 7.3) on 0–40 points metric, with mean scores in individual countries ranging from 6.9 (the Netherlands) to 9.9 (Spain). Women showed higher scores than men and younger participants scored higher than older participants. Our study is the first to present normative K10 and K6 data from several European countries using a consistent sampling approach. These reference values will facilitate the interpretation of K10 and K6 scores in clinical research and practice and also highlight the variation in psychological distress levels across countries and groups according to their socio-demographic and health characteristics.
Hsa_circRNA_001676 accelerates the proliferation, migration and stemness in colorectal cancer through regulating miR-556-3p/G3BP2 axis
Authors: Hao Qin , Zhang Miao , Wu Yingcai , Guo Yuchen , Zheng Yanling , Wu Lijuan , Feng Li , Wang Zhenfei 
Published: October 2023

AbstractCircular RNAs (circRNAs) play key roles in colorectal cancer (CRC) progression, but little is known about the biological functions of hsa_circRNA_001676 in CRC. Therefore, we explored the potential role of hsa_circRNA_001676 in CRC development. RT-qPCR was performed to determine hsa_circRNA_001676, miR-556-3p and Ras-GTPase-activating SH3 domain-binding-proteins 2 (G3BP2) levels in CRC tissues. Meanwhile, to evaluate the roles of hsa_circRNA_001676, miR-556-3p and G3BP2 on CRC, functional analysis of cell proliferation, migration and stemness were then performed. Our results showed that compared to normal tissues, hsa_circRNA_001676 and G3BP2 level was elevated, but miR-556-3p level was reduced in CRC tissues. Additionally, luciferase reporter results showed that hsa_circRNA_001676 was shown to target miR-556-3p, and G3BP2 was targeted by miR-556-3p. Hsa_circRNA_001676 or G3BP2 overexpression promoted CRC cell proliferation and migration. Conversely, miR-556-3p overexpression suppressed CRC cell proliferation and migration. Moreover, deficiency of hsa_circRNA_001676 or G3BP2 repressed the CRC cell proliferation, migration and stemness. Meanwhile, hsa_circRNA_001676 deficiency obviously reduced tumor growth and stemness in a CRC mouse xenograft model. Furthermore, hsa_circRNA_001676 deficiency notably reduced G3BP2 level, but elevated miR-556-3p level in tumor tissues from tumor-bearing mice. Mechanistically, hsa_circRNA_001676 targeted miR-556-3p to increase G3BP2 level, contributing to the progression of CRC. Collectively, hsa_circRNA_001676 was able to accelerate proliferation, migration and stemness in CRC through regulating miR-556-3p/G3BP2 axis, suggesting that hsa_circRNA_001676 may become a potential therapeutic target in treating CRC.
Regular laboratory testing and patient survival among patients undergoing maintenance hemodialysis: a Korean nationwide cohort study
Authors: Kim Do Hyoung , Cho AJin , Park Hayne Cho , Kim Bo Yeon , Lee Miri , Kim Gui Ok , Kim Jinseog , Lee Young-Ki 
Published: October 2023

AbstractRoutine laboratory tests are regularly performed in patients undergoing maintenance hemodialysis (HD) to detect anemia, chronic kidney disease-mineral bone disorders, and cardiovascular disease. More frequent laboratory tests may be associated with better outcomes. However, there is little evidence supporting a specific monitoring interval. This study evaluated the impact of regular laboratory testing on mortality in Korean patients undergoing maintenance HD. We used HD quality assessments, and National Health Insurance Service claims data from October to December 2015. In HD quality assessment, 22 tests are recommended every 1–6 months. A total of 34,950 patients were divided into two groups based on the regularity of laboratory testing. A Cox proportional hazards model was used to assess the effects of regular laboratory tests on patient mortality during a mean follow-up duration of 53.7 months. The proportion of patients with and without regular laboratory testing was 85.6% (n = 29,914) and 14.4% (n = 5036), respectively. Patients who underwent regular laboratory testing had a longer dialysis duration, lower serum phosphorus levels and diastolic blood pressure, and higher hemoglobin and single-pool Kt/V levels than those who did not. After adjusting for demographic and clinical parameters, regular laboratory testing independently reduced mortality risk (hazard ratio, 0.90; 95% confidence interval 0.85–0.95; P < 0.001). Regular laboratory testing was associated with a decreased mortality risk among patients undergoing HD. Management of end-stage kidney disease-related complications based on laboratory tests can improve survival.
Investigation of mechanical, physical and thermoacoustic properties of a novel light-weight dense wall panels made of bamboo Phyllostachys Bambusides
Authors: Gholizadeh Parham , Hosseinabadi Hamid Zarea , Hebel Dirk E. , Javadian Alireza 
Published: October 2023

AbstractThis study was conducted to evaluate the properties of lightweight sandwich panels made from low diameter bamboo particles, Phyllostachys Bambusides collected from Gilan province, Iran, as core layer, combined with thin wall bamboo strips as faces. The effects of three individual variables such as density of core layer (350–550 kg/m3), resin consumption in core layer (7.5–9.5%) and resin consumption in faces (175–275 g/m2) on some important physical, mechanical and thermos-acoustic properties of the panels were investigated. Response surface methodology was used to statistically analyse the results and optimization process. The average values for the mechanical properties of the sandwich panels were obtained as 17.16 MPa, 5669 MPa, 0.02 MPa, 17.60 MPa, 1.83 MPa, 0.03 MPa, and 913.3 MPA for modulus of rupture, modulus of elasticity, internal bonding, compression strength parallel to face grain, compression strength perpendicular to face grain, shear strength, and screw holding, respectively. Finally, thermal conductivity and noise reduction coefficient of the panels were respectively gained as 0.01 W/mk and 0.31. The results of technical and thermo- acoustic properties of the panels showed that the light weight sandwich panels from bamboo residues would be a suitable and sustainable alternative as an insulation material for sustainable and green construction.
Study on lightening of coal tar with metal oxide supported γ-Al2O3 catalyst
Authors: Jihao Chen , Juan Li , Yue Li , Jinjing Zhang 
Published: October 2023

AbstractIn this experiment, a fixed bed of pyrolysis was used to conduct pyrolysis with coal and a mixture of coal and catalyst, and the distribution and composition of tar products were studied. The pyrolysis of raw coal was carried out at different temperatures and at different constant temperature times, and the effects of pyrolysis temperature and constant temperature pyrolysis time on tar product formation from raw coal pyrolysis were studied. γ-Al2O3 was used as the carrier, and 4 kinds of alkaline earth metal oxides (MgO, CaO, SrO, BaO), 3 kinds of subgroup metal oxides (Fe2O3, Co2O3, NiO) and 5 kinds of VIII metal oxides (Cr2O3, MnO2, CuO, ZnO, MnO2) were selected as active components. The supported γ-Al2O3 catalyst was prepared by the method of equal volume impregnation and roasting in a muffle furnace. The γ-Al2O3 catalyst was characterized by means of XPS, BET and SEM, and the mechanism of the mixed pyrolysis of coal with different metal oxide supported catalysts to generate tar was studied. The results showed that: (1) under the conditions of 450 °C, 500 °C, 550 °C and 600 °C, the maximum tar yield was 0.32 g at 600 °C, and the tar yield was higher at constant temperature for 15 min than at final temperature of 600 °C, with an increase of 15.63%. (2) Fe2O3/γ-Al2O3 catalyst resulted in the highest tar yield of 0.75 g, which was 134.38% higher than that of coal pyrolysis. (3) From the increase of light oil and phenol oil and the decrease of anthracene oil and asphalt, Co2O3/γ-Al2O3, Fe2O3/γ-Al2O3 and Cr2O3/γ-Al2O3 can improve the tar quality better.
The transcriptome signature analysis of the epithelial-mesenchymal transition and immune cell infiltration in colon adenocarcinoma
Authors: Heryanto Yusri Dwi , Imoto Seiya 
Published: October 2023

AbstractThe epithelial-mesenchymal transition (EMT) process is tightly connected to tumors’ immune microenvironment. In colon adenocarcinoma (COAD), both the EMT and immune cell infiltration contribute to tumor progression; however, several questions regarding the mechanisms governing the interaction between EMT and the immune response remain unanswered. Our study aims to investigate the cross-talk between these two processes in cases of COAD and identify the key regulators involved. We utilized the EMT and immune signatures of samples from the COAD-TCGA database to identify three subtypes of COAD: high mesenchymal, medium mesenchymal, and low mesenchymal. We observed that EMT was associated with increased tumor immune response and infiltration mediated by pro-inflammatory cytokines. However, EMT was also linked to immunosuppressive activity that involved regulatory T cells, dendritic cells, and the upregulated expression of multiple immune checkpoints, such as PD-1, PDL-1, CTLA-4, and others. Finally, we employed the multivariate random forest feature importance method to identify key genes, such as DOK2 and MSRB3, that may play crucial roles in both EMT and the intratumoral immune response.
Development of an accelerated cellular model for early changes in Alzheimer’s disease
Authors: Xue Huijing , Gate Sylvester , Gentry Emma , Losert Wolfgang , Cao Kan 
Published: October 2023

AbstractAlzheimer’s Disease (AD) is a leading cause of dementia characterized by amyloid plaques and neurofibrillary tangles, and its pathogenesis remains unclear. Current cellular models for AD often require several months to exhibit phenotypic features due to the lack of an aging environment in vitro. Lamin A is a key component of the nuclear lamina. Progerin, a truncated protein resulting from specific lamin A mutations, causes Hutchinson–Gilford Progeria Syndrome (HGPS), a disease that prematurely ages individuals. Studies have reported that lamin A expression is induced in the brains of AD patients, and overlapping cellular phenotypes have been observed between HGPS and AD cells. In this study, we investigated the effects of exogenous progerin expression on neural progenitor cells carrying familial AD mutations (FAD). Within three to four weeks of differentiation, these cells exhibited robust AD phenotypes, including increased tau phosphorylation, amyloid plaque accumulation, and an elevated Aβ42 to Aβ40 ratio. Additionally, progerin expression significantly increased AD cellular phenotypes such as cell death and cell cycle re-entry. Our results suggest that progerin expression could be used to create an accelerated model for AD development and drug screening.
Social determinants of serum 25-hydroxyvitamin D concentrations deficiency in older Chilean people
Authors: Alvear-Vega Sandra , Benavente-Contreras Rodrigo , Vargas-Garrido Héctor 
Published: October 2023

AbstractSerum 25-hydroxyvitamin D concentrations deficiency is a growing health problem that affects a significant part of the world’s population, with particularly negative consequences in children and older adults. Public health has prioritized healthy aging; thus, an investigation of the social determinants related to deficient and insufficient Serum 25-hydroxyvitamin D concentrations in older adults is needed to contribute to the implementation of comprehensive social programs focused on addressing those conditions adversely affecting the health of this group. This study was conducted using a sample of older adults (age ≥ 65 years, n = 1283) from the National Health Survey (NHS 2016–2017). The Average Marginal Effects of the social determinants of Serum 25-hydroxyvitamin D concentrations deficiency in older adults were predicted using a probit model in which the outcome variable assumed two values (deficiency or not deficiency), taking as independent variables those reported in previous studies. The model showed an adequate goodness of fit, Count R2 = 0.65, and the independent variables explained between 11% (Cox-Snell) and 14% (Nagelkerke) of the variance of the outcome variable. The social determinants associated with a greater likelihood of Serum 25-hydroxyvitamin D concentrations deficiency are the following conditions: women, people of native origin, urban dwellers, shorter sunlight exposure, and greater geographical latitude. Implications are discussed, and limitations are considered. Promotion and prevention programs should preferentially target older adults in the southernmost regions who live in urban areas, with a special focus on women. Due to the country’s characteristics (17°–57° south latitude), it is necessary to review in future research the three zones shown in this study as relevant social determinants for the older adults living in them to generate inputs in formulating public health policies. The authorities must define the cut-off points for considering the difference between the country’s ranges of Serum 25-hydroxyvitamin D concentrations insufficiency and deficiency.
Optical system design method of the all-day starlight refraction navigation system
Authors: Wu Shaochong , Wang Hongyuan , Yan Zhiqiang 
Published: October 2023

The application of starlight refraction navigation to spacecraft and space weapons is a significant development direction. Observing enough refracted stars for the star sensor in a strong limb background is an urgent problem. The all-day optical system parameters are analyzed based on the star detection requirement and navigation accuracy. Combined with primary aberration theory, the prime-focus catadioptric optical system is selected to meet the design requirements of a wide field of view (FOV) and tight structure. An H-band (1.52 μm–1.78 μm) star sensor is designed with an FOV of 6°, a focal length of 831 mm, an effective aperture of 253 mm, and a relative distortion of 0.03%. The energy concentration of the star point is 85% within 30 μm, and the maximum lateral chromatic aberration is 2.9 μm, which meets the imaging requirements. Furthermore, a baffle is designed to avoid the influence of direct sunlight on stellar imaging. The proposed method can provide a theoretical foundation and technical support for the optical design of the refraction star navigation.
Endocrine Disruptors: Focus on the Adrenal Cortex
Authors: Pötzl Benedikt , Kürzinger Lydia , Stopper Helga , Fassnacht Martin , Kurlbaum Max , Dischinger Ulrich 
Published: October 2023

AbstractEndocrine-disrupting chemicals (EDCs) are exogenous substances known to interfere
with endocrine homeostasis and promote adverse health outcomes. Their impact on
the adrenal cortex, corticosteroids and their physiological role in the organism
has not yet been sufficiently elucidated. In this review, we collect
experimental and epidemiological evidence on adrenal disruption by relevant
endocrine disruptors. In vitro data suggest significant alterations of gene
expression, cell signalling, steroid production, steroid distribution, and
action. Additionally, morphological studies revealed disturbances in tissue
organization and development, local inflammation, and zone-specific hyperplasia.
Finally, endocrine circuits, such as the hypothalamic-pituitary-adrenal axis,
might be affected by EDCs. Many questions regarding the detection of
steroidogenesis disruption and the effects of combined toxicity remain
unanswered. Not only due to the diverse mode of action of adrenal steroids and
their implication in many common diseases, there is no doubt that further
research on endocrine disruption of the adrenocortical system is needed.