bluuebunny/crossref_metadata_2025_split huggingface dataset:
Expanding SPG18 clinical spectrum: autosomal dominant mutation causes complicated hereditary spastic paraplegia in a large family
Authors: Trinchillo Assunta , Valente Valeria , Esposito Marcello , Migliaccio Miriana , Iovino Aniello , Picciocchi Michele , Cuomo Nunzia , Caccavale Carmela , Nocerino Cristofaro , De Rosa Laura , Salvatore Elena , Pierantoni Giovanna Maria , Menchise Valeria , Paladino Simona , Criscuolo Chiara 
Published: April 2024

Abstract
Background
SPG18 is caused by mutations in the endoplasmic reticulum lipid raft associated 2 (ERLIN2) gene. Autosomal recessive (AR) mutations are usually associated with complicated hereditary spastic paraplegia (HSP), while autosomal dominant (AD) mutations use to cause pure SPG18.

Aim
To define the variegate clinical spectrum of the SPG18 and to evaluate a dominant negative effect of erlin2 (encoded by ERLIN2) on oligomerization as causing differences between AR and AD phenotypes.

Methods
In a four-generation pedigree with an AD pattern, a spastic paraplegia multigene panel test was performed. Oligomerization of erlin2 was analyzed with velocity gradient assay in fibroblasts of the proband and healthy subjects.

Results
Despite the common p.V168M mutation identified in ERLIN2, a phenoconversion to amyotrophic lateral sclerosis (ALS) was observed in the second generation, pure HSP in the third generation, and a complicated form with psychomotor delay and epilepsy in the fourth generation. Erlin2 oligomerization was found to be normal.

Discussion
We report the first AD SPG18 family with a complicated phenotype, and we ruled out a dominant negative effect of V168M on erlin2 oligomerization. Therefore, our data do not support the hypothesis of a relationship between the mode of inheritance and the phenotype, but confirm the multifaceted nature of SPG18 on both genetic and clinical point of view. Clinicians should be aware of the importance of conducting an in-depth clinical evaluation to unmask all the possible manifestations associated to an only apparently pure SPG18 phenotype. We confirm the genotype–phenotype correlation between V168M and ALS emphasizing the value of close follow-up.
Lincosamide monotherapy treatment of methicillin-resistant Staphylococcus aureus pneumonia in tropical Australia: a case series
Authors: Campbell Stuart , Smith Simon , Hanson Josh 
Published: April 2024

AbstractExisting recommended first-line antibiotic agents for MRSA pneumonia have several shortcomings. We reviewed 29 cases of community- and hospital-acquired MRSA pneumonia managed at our hospital. Lincosamide monotherapy was administered to 21/29 (72%) and was the predominant antibiotic regimen (> 50% course duration) in 19/29 (66%). Patients receiving lincosamide-predominant monotherapy were no more likely to die or require intensive care unit admission than patients receiving vancomycin-predominant monotherapy (5/19 (26%) versus 4/7 (57%), p = 0.19); 5/7 (71%) patients admitted to ICU and 4/5 (80%) bacteraemic patients received lincosamide-predominant monotherapy. MRSA pneumonia can be safely treated with lincosamide monotherapy if the isolate is susceptible.
Derivation and validation of a predictive mortality model of in-hospital patients with Acinetobacter baumannii nosocomial infection or colonization
Authors: Gagliardo Carola Maria , Noto Davide , Giammanco Antonina , Catanzaro Andrea , Cimino Maria Concetta , Presti Rosalia Lo , Tuttolomondo Antonino , Averna Maurizio , Cefalù Angelo Baldassare 
Published: April 2024

Abstract
Purpose
Acinetobacter baumannii (Ab) is a Gram-negative opportunistic bacterium responsible for nosocomial infections or colonizations. It is considered one of the most alarming pathogens due to its multi-drug resistance and due to its mortality rate, ranging from 34 to 44,5% of hospitalized patients. The aim of the work is to create a predictive mortality model for hospitalized patient with Ab infection or colonization.

Methods
A cohort of 140 sequentially hospitalized patients were randomized into a training cohort (TC) (100 patients) and a validation cohort (VC) (40 patients). Statistical bivariate analysis was performed to identify variables discriminating surviving patients from deceased ones in the TC, considering both admission time (T0) and infection detection time (T1) parameters. A custom logistic regression model was created and compared with models obtained from the “status” variable alone (Ab colonization/infection), SAPS II, and APACHE II scores. ROC curves were built to identify the best cut-off for each model.

Results
Ab infection status, use of penicillin within 90 days prior to ward admission, acidosis, Glasgow Coma Scale, blood pressure, hemoglobin and use of NIV entered the logistic regression model. Our model was confirmed to have a better sensitivity (63%), specificity (85%) and accuracy (80%) than the other models.

Conclusion
Our predictive mortality model demonstrated to be a reliable and feasible model to predict mortality in Ab infected/colonized hospitalized patients.
Symptoms predictive of Fusobacterium necrophorum pharyngotonsillitis – an observational study of cases presenting to hospitals in Southern Sweden
Authors: Pagels Josefina , Torisson Gustav , Wasserstrom Lisa , Hedin Katarina , Holm Karin , Nygren David 
Published: April 2024

Abstract
Objectives
Fusobacterium necrophorum is a common cause of pharyngotonsillitis. However, no guidelines exist on when to diagnose or treat it. We aimed to investigate associations between clinical criteria and F. necrophorum-positivity in pharyngotonsillitis and assess the predictive potential of a simple scoring system.

Methods
Pharyngotonsillitis patients who were tested for F. necrophorum (PCR) and presented to hospitals in the Skåne Region, Sweden, between 2013–2020 were eligible. Data were retrieved from electronic chart reviews and registries. By logistic regression we investigated associations between F. necrophorum-positivity and pre-specified criteria: age 13–30 years, symptom duration ≤ 3 days, absence of viral symptoms (e.g. cough, coryza), fever, tonsillar swelling/exudate, lymphadenopathy and CRP ≥ 50 mg/L. In secondary analyses, associated variables were weighted by strength of association into a score and its predictive accuracy of F. necrophorum was assessed.

Results
Among 561 cases included, 184 (33%) had F. necrophorum, which was associated with the following criteria: age 13–30, symptom duration ≤ 3 days, absence of viral symptoms, tonsillar swelling/exudate and CRP ≥ 50 mg/L. Age 13–30 had the strongest association (OR5.7 95%CI 3.7–8.8). After weighting, these five variables had a sensitivity and specificity of 68% and 71% respectively to predict F. necrophorum-positivity at the proposed cut-off.

Conclusion
Our results suggest that F. necrophorum cases presenting to hospitals might be better distinguished from other pharyngotonsillitis cases by a simple scoring system presented, with age 13–30 being the strongest predictor for F. necrophorum. Prospective studies, involving primary care settings, are needed to evaluate generalisability of findings beyond cases presenting to hospitals.
Sound symbolism in manual and vocal responses: phoneme-response interactions associated with grasping as well as vertical and size dimensions of keypresses
Authors: Vainio L. , Myllylä I. L. , Vainio M. 
Published: April 2024

AbstractIt has been shown that reading the vowel [i] and consonant [t] facilitates precision grip responses, while [ɑ] and [k] are associated with faster power grip responses. A similar effect has been observed when participants perform responses with small or large response keys. The present study investigated whether the vowels and consonants could produce different effects with the grip responses and keypresses when the speech units are read aloud (Experiment 1) or silently (Experiment 2). As a second objective, the study investigated whether the recently observed effect, in which the upper position of a visual stimulus is associated with faster vocalizations of the high vowel and the lower position is associated with the low vowel, can be observed in manual responses linking, for example, the [i] with responses of the upper key and [ɑ] with lower responses. Firstly, the study showed that when the consonants are overtly articulated, the interaction effect can be observed only with the grip responses, while the vowel production was shown to systematically influence small/large keypresses, as well as precision/power grip responses. Secondly, the vowel [i] and consonant [t] were associated with the upper responses, while [ɑ] and [k] were associated with the lower responses, particularly in the overt articulation task. The paper delves into the potential sound-symbolic implications of these phonetic elements, suggesting that their acoustic and articulatory characteristics might implicitly align them with specific response magnitudes, vertical positions, and grip types.
The oxidation of potassium hexacyanoferrate(II)trihydrate by potassium dibromodicyanoaurate(III) in acidic solution: a kinetic study
Authors: Swarts Jannie C. , Dennis C. Robert 
Published: April 2024

AbstractThe reduction of the dibromodicyanoaurate(III) ion by hexacyanoferrate(II)trihydrate was studied in an acidic medium. The reaction was first order in both Au(CN)2Br2− and Fe(CN)64− and a second order rate constant of k2 = 255 ± 5 M−1 s−1 at [H+] = 2.041 × 10−4 M, an ionic strength of 0.51 M (NaBr) and 20.0 ± 0.1 °C was found for the reaction. The reaction rate decreases with increasing [H+] in the region 0.0004 ≤ [H+] ≤ 0.065 M. An equilibrium constant of Ka = (3.00 ± 0.01) × 10−3 M (pKa = 2.52) at 20.0 ± 0.1 °C was found for the deprotonation of H2Fe(CN)62−. Activation parameters of ∆H# = 47.8 ± 0.9 kJ mol−1 and ∆S# = −37 ± 3 J K−1 mol−1 have been obtained by a least squares fit of temperature data directly to the Eyring equation.
Graphical abstract
Detection of plant cadmium toxicity by monitoring dielectric response of intact root systems on a fine timescale
Authors: Cseresnyés Imre , Takács Tünde , Füzy Anna 
Published: April 2024

AbstractThe root dielectric response was measured on a minute scale to assess its efficiency for monitoring short-term cadmium (Cd) toxicity non-destructively. Electrical capacitance (CR), dissipation factor (DR) and electrical conductance (GR) were detected during the 24 to 168 h after Cd treatment (0, 20, 50 mg Cd2+ kg–1 substrate) in potted maize, cucumber and pea. Stress was also evaluated by measuring leaf chlorophyll content, Fv/Fm and stomatal conductance (gs) in situ, and shoot and root mass and total root length after harvest. CR showed a clear diurnal pattern, reflecting the water uptake rate, and decreased significantly in response to excessive Cd due to impeded root growth, the reduced tissue permittivity caused by accelerated lignification, and root ageing. Cd exposure markedly increased DR, indicating greater conductive energy loss due to oxidative membrane damage and enhanced electrolyte leakage. GR, which was coupled with root hydraulic conductance and varied diurnally, was increased transiently by Cd toxicity due to enhanced membrane permeability, but declined thereafter owing to stress-induced leaf senescence and transpiration loss. The time series of impedance components indicated the comparatively high Cd tolerance of the applied maize and the sensitivity of pea cultivar, which was confirmed by visible shoot symptoms, repeated physiological investigations and biomass measurements. The results demonstrated the potential of single-frequency dielectric measurements to follow certain aspects of the stress response of different species on a fine timescale without plant injury. The approach can be combined with widely used plant physiological methods and could contribute to breeding crop genotypes with improved stress tolerance.
Identification and Expression Analysis of Transcription Factors in Carallia Brachiata Genome
Authors: Qiao Hongmei 
Published: April 2024

AbstractTranscription factors are important regulatory factors in gene expression. To explore the role of transcription factors in the adaptation of Carallia brachiata to its environment, this study identified the transcription factor family across the genome and analyzed their expression in eight tissues (roots, stems, leaves, flowers, ovules, fruits, seeds, embryos). The results showed that a total of 2322 transcription factor from 91 families were identified. They were significantly enriched in 12 pathways including plant signal transduction, circadian rthythm, MAPK signaling pathway-plant and plant-pathogen interaction etc. Most genes were involved in environmental information processing and environmental adaptation through signal transduction. The results of expression analysis showed 204 genes were tissue-specific. Genes that were responsible for the signal transduction of cytokinine, auxin, gibberellin, jasmonic acid, salicylic acid were mainly expressed in root, stem, leaf, flower, ovule and fruit while the genes that involve in ethylene and abscisic acid signal transduction were only expressed in seed and embryo. This study suggested that the transcription factors regulated different tissues of C. brachiata by participating in different hormone response pathways, so as to regulate plant growth and development.
The influence of an urban hukou and its acquisition methods on older adults’ happiness: an analysis based on the Chinese General Social Survey
Authors: He Li , Zhao Jinxu , Wang Jiangyin , Zheng Jialiang , Zhang Zixian , Jiang Liu 
Published: April 2024

AbstractThe hukou system is a population management policy in China. However, existing research has paid little attention to the relationships between Chinese urban hukou, its acquisition methods, and older adults’ happiness. This study was based on 10,954 samples from the Chinese General Social Survey in 2013, 2015, and 2017. An ordinary least squares model was used to analyze the influence and differential influence of an urban hukou and its access paths on happiness among older adults. Compared with having a rural hukou, having an urban hukou is correlated with higher levels of happiness in older adults. Moreover, those who had actively converted to an urban hukou or were born with it were happier, while passive conversion to an urban hukou was not significantly correlated with happiness. Additionally, actively converting to an urban hukou and being born with urban hukou influence the happiness of older adults by affecting their class identity and income. To improve older adults’ happiness, it is necessary to narrow the welfare gap between an urban and rural hukou, balance the allocation of public resources in urban and rural areas, and make targeted assessments to solve the difficulties of older adults who passively convert to an urban hukou.
A combination of cuproptosis and lncRNAs predicts the prognosis and tumor immune microenvironment in cervical cancer
Authors: Huang Yitong , Pan Chenxiang , Wu Suni , Ye Feng , Yang Lihua 
Published: April 2024

Abstract
Background
Cuproptosis induces proteotoxic stress and eventually leads to cell death. However, the relationship between cuproptosis and lncRNAs in cervical cancer has not been fully elucidated. Therefore, we aim to explore the association among lncRNAs, cuproptosis and clinical features in cervical cancer.

Methods
RNA sequencing, genetic mutations, and clinical data of CESC patients were obtained from TCGA. Cuproptosis-associated genes were gathered. WGCNA was used to cluster important modules, and KEGG, GO, GSEA and GSVA were used to explore functional and pathway enrichment. The association between immune microenvironment and cuproptosis-related lncRNAs was performed by using cibersort algorithm and other platforms, including XCELL, TIMER, QUANTISEQ, MCPCOUNTER and EPIC. Fluorescence quantitative PCR was employed to detect the expression of LINC01833 and LINC02321, and CCK-8 and cell scratch assays were used to assess cell proliferation and migration capabilities after LINCRNA interference.

Results
202 upregulated and 45 downregulated lncRNAs were selected. The survival analysis showed that there was a statistically significant difference in survival rates between the high-risk and low-risk groups. The prognosis of tumour mutation burden and the degree of immune infiltration were differed noticeably between the high-risk and low-risk groups. BHG712, TL-2-105, FR-180204, Masitinib, TAK-715, ODI-027, JW-7-24-2, and OSI-930 had substantially higher IC50 values in the high-risk group. Notably, we found AL360178.1 was associated with RNF44 E3 ubiquitin ligase expression. In cervical cancer cell lines, LINC01833 and LINC02321 displayed significant upregulation. Efficient siRNA transfection led to a decreased expression of LINC01833 and LINC02321. This knockdown significantly hindered both cell proliferation and migration capabilities in cervical cancer cells compared to the negative control.

Conclusion
In conclusion, we constructed five cuprotosis-related lncRNA prognostic models, which may be new tumor therapeutic targets for the prevention and treatment of cervical cancer.
Identification of hub genes and diagnostic efficacy for triple-negative breast cancer through WGCNA and Mendelian randomization
Authors: Lin Yilong , Wang Songsong , Yang Qingmo 
Published: April 2024

Abstract
Objective
Triple-negative breast cancer (TNBC) represents a particularly aggressive form of breast cancer with a poor prognosis due to a lack of targeted treatments resulting from limited a understanding of the underlying mechanisms. The aim of this study was the identification of hub genes for TNBC and assess their clinical applicability in predicting the disease.

Methods
This study employed a combination of weighted gene co-expression network analysis (WGCNA) and differentially expressed genes (DEGs) to identify new susceptible modules and central genes in TNBC. The potential functional roles of the central genes were investigated using Kyoto Encyclopedia of Genes and Genomes (KEGG) and Gene Ontology (GO) analyses. Furthermore, a predictive model and ROC curve were developed to assess the diagnostic performance of the identified central genes. The correlation between CCNB1 and immune cells proportion was also investigated. At last, a Mendelian randomization (MR) analysis utilizing Genome-Wide Association Study (GWAS) data was analyzed to establish the causal effect of CCNB1 level on TNBC.

Results
WGCNA was applied to determine gene co-expression maps and identify the most relevant module. Through a screening process, 1585 candidate hub genes were subsequently identified with WGCNA and DEGs. GO and KEGG function enrichment analysis indicated that these core genes were related to various biological processes, such as organelle fission, chromosome segregation, nuclear division, mitotic cell cycle phase transition, the cell cycle, amyotrophic lateral sclerosis, and motor proteins. Using STRING and Cytoscape, the top five genes with high degrees were identified as CDC2, CCNB1, CCNA2, TOP2A, and CCNB2. The nomogram model demonstrated good performance in predicting TNBC risk and was proven effective in diagnosis, as evidenced by the receiver operating characteristic (ROC) curve. Further investigation revealed a causal association between CCNB1 and immune cell infiltrates in TNBC. Survival analysis revealed high expression of the CCNB1 gene leads to poorer prognosis in TNBC patients. Additionally, analysis using inverse variance weighting revealed that CCNB1 was linked to a 2.8% higher risk of TNBC (OR: 1.028, 95% CI 1.002–1.055, p = 0.032).

Conclusion
We established a co-expression network using the WGCNA methodology to detect pivotal genes associated with TNBC. This finding holds promise for advancing the creation of pre-symptomatic diagnostic tools and deepening our comprehension of the pathogenic mechanisms involved in TNBC risk genes.
On axially rational regular functions and Schur analysis in the Clifford-Appell setting
Authors: Alpay Daniel , Colombo Fabrizio , De Martino Antonino , Diki Kamal , Sabadini Irene 
Published: April 2024

AbstractIn this paper we start the study of Schur analysis for Cauchy–Fueter regular quaternionic-valued functions, i.e. null solutions of the Cauchy–Fueter operator in $${\mathbb {R}}^4$$

R

4

. The novelty of the approach developed in this paper is that we consider axially regular functions, i.e. functions spanned by the so-called Clifford-Appell polynomials. This type of functions arises naturally from two well-known extension results in hypercomplex analysis: the Fueter mapping theorem and the generalized Cauchy–Kovalevskaya (GCK) extension. These results allow one to obtain axially regular functions starting from analytic functions of one real or complex variable. Precisely, in the Fueter theorem two operators play a role. The first one is the so-called slice operator, which extends holomorphic functions of one complex variable to slice hyperholomorphic functions of a quaternionic variable. The second operator is the Laplace operator in four real variables, that maps slice hyperholomorphic functions to axially regular functions. On the other hand, the generalized CK-extension gives a characterization of axially regular functions in terms of their restriction to the real line. In this paper we use these two extensions to define two notions of rational function in the regular setting. For our purposes, the notion coming from the generalized CK-extension is the most suitable. Our results allow to consider the Hardy space, Schur multipliers and their relation with realizations in the framework of Clifford-Appell polynomials. We also introduce two notions of regular Blaschke factors, through the Fueter theorem and the generalized CK-extension.
Integer Carathéodory results with bounded multiplicity
Authors: Kuhlmann Stefan 
Published: April 2024

AbstractThe integer Carathéodory rank of a pointed rational cone C is the smallest number k such that every integer vector contained in C is an integral non-negative combination of at most k Hilbert basis elements. We investigate the integer Carathéodory rank of simplicial cones with respect to their multiplicity, i.e., the determinant of the integral generators of the cone. One of the main results states that simplicial cones with multiplicity bounded by five have the integral Carathéodory property, that is, the integer Carathéodory rank equals the dimension. Furthermore, we give a novel upper bound on the integer Carathéodory rank that depends on the dimension and the multiplicity. This bound improves upon the best known upper bound on the integer Carathéodory rank if the dimension exceeds the multiplicity. At last, we present special cones that have the integral Carathéodory property such as certain dual cones of Gorenstein cones.