bluuebunny/crossref_metadata_2025_split huggingface dataset:
Cerebral visual impairment: genetic diagnoses and phenotypic associations
Authors: Shaw Emogene , Flitcroft Ian , Bowman Richard , Baker Kate 
Published: March 2024

BackgroundCerebral visual impairment (CVI) is the most common form of paediatric visual impairment in developed countries. CVI can arise from a host of genetic or acquired causes, but there has been limited research to date on CVI in the context of genetic disorders.MethodsWe carried out a retrospective analysis of genotypic and phenotypic data for participants with CVI within the DECIPHER database and 100 000 Genomes Project (100KGP).Results158 individuals with CVI were identified across both cohorts. Within this group, pathogenic or likely pathogenic sequence variants in 173 genes were identified. 25 of these genes already have known associations with CVI, while the remaining 148 are candidate genes for this phenotype. Gene ontology analysis of the CVI gene sets from both DECIPHER and 100KGP suggests that CVI has a similar degree of genetic heterogeneity to other neurodevelopmental phenotypes, and a strong association with genetic variants converging on ion channels and receptor functions. Individuals with a monogenic disorder and CVI have a higher frequency of epilepsies and severe neurodisability than individuals with a monogenic disorder but not CVI.ConclusionThis study supports the availability of genetic testing for individuals with CVI alongside other neurodevelopmental difficulties. It also supports the availability of ophthalmological screening for individuals with genetic diagnoses linked to CVI. Further studies could elaborate on the links between specific genetic disorders, visual maturation and broader neurodevelopmental characteristics.
The development and initial validation of IgG4-related disease damage index: a consensus report from Chinese IgG4-RD Consortium
Authors: Peng Linyi , Li Jingna , Zhou Jiaxin , Fei Yunyun , Dong lingli , Liu Yan-Ying , Zhang Dingding , Wang Yanhong , Chi Shuhong , Wang Fang , Hou Yunxia , Hong Xiaoping , Sun Hongsheng , Ye Yujin , Che Nan , Zhang Rong , Liu Changyan , Ji Zongfei , Sun Wenjia , Zhao Cheng , Ma Ning , Lai Yamin , Li Mengtao , Zhao Yan , Zeng Xiaofeng , Lu Liwei , Zhang Wen 
Published: March 2024

ObjectiveTo develop and conduct an initial validation of the Damage Index for IgG4-related disease (IgG4-RD DI).MethodsA draft of index items for assessing organ damages in patients with IgG4-RD was generated by experts from the Chinese IgG4-RD Consortium (CIC). The preliminary DI was refined using the Delphi method, and a final version was generated by consensus. 40 IgG4-RD cases representing four types of clinical scenarios were then selected, each with two time points of assessment for at least 3 years of follow-up. 48 rheumatologists from 35 hospitals nationwide were invited to evaluate organ damage using the CIC IgG4-RD DI. The intraclass correlation coefficient (ICC) and the Kendall-W coefficient of concordance (KW) were used to assess the inter-rater reliability. The criterion validity of IgG4-RD DI was tested by calculating the sensitivity and specificity of raters.ResultsIgG4-RD DI is a cumulative index consisting of 14 domains of organ systems, including a total of 39 items. The IgG4-RD DI was capable of distinguishing stable and increased damage across the active disease subgroup and stable disease subgroup. In terms of scores at baseline and later observations by all raters, overall consistency in scores at baseline and later observations by all raters was satisfactory. ICC at the two time points was 0.69 and 0.70, and the KW was 0.74 and 0.73, respectively. In subgroup analysis, ICC and KW in all subgroups were over 0.55 and 0.61, respectively. The analysis of criterion validity showed a good performance with a sensitivity of 0.86 (95% CI 0.82 to 0.88), a specificity of 0.79 (95% CI 0.76 to 0.82) and an area under the curve of 0.88 (95% CI 0.85 to 0.91).ConclusionThe IgG4-RD DI is a useful approach to analyse disease outcomes, and it has good operability and credibility. It is anticipated that the DI will become a useful tool for therapeutic trials and studies of prognosis in patients with IgG4-RD.
Modelling permafrost distribution using the temperature at top of permafrost model in the boreal forest environment of Whatì, NT
Authors: Vegter Scott , Bonnaventure Philip P. , Daly Seamus , Kochtitzky Will 
Published: March 2024

Current permafrost models in Canadian boreal forests are generally of low spatial resolution as they cover regional or continental scales. This study aims to understand the viability of creating a temperature at the top of permafrost (TTOP) model on a local scale in the boreal wetland environment of Whatì, Northwest Territories from short-term field-collected temperature data. The model utilizes independent variables of vegetation, topographic position index, and elevation, with the dependent variables being ground surface temperature collected from 60 ground temperature nodes and 1.5 m air temperature collected from 10 temperature stations. In doing this, the study investigates the relationship vegetation and disturbance have on ground temperature and permafrost distribution. The model predicts that 31% of the ground is underlain by permafrost, based on a mean annual temperature at TTOP of <0 °C. This model shows an accuracy of 62.5% when compared to cryotic assessment sites (CAS). Most inaccuracies, showing the limitations of the TTOP model, came from peat plateaus that had been burned in the most recent forest fire in 2014. These resulted in out-of-equilibrium permafrost and climatic conditions that TTOP cannot handle well. Commonly, permafrost mapping places Whatì in the extensive discontinuous zone, estimating that between 50% and 90% of the ground is underlain by permafrost. The study shows that a climatically driven TTOP model calibrated with CAS can be used to illustrate ground temperature heterogeneity from short-term data in boreal forest wetland environments. However, this approach likely underestimates permafrost extent and is perhaps not the best-suited modelling choice for near-surface permafrost, which is currently out of equilibrium with the current climate.
On the geometry of two state models for the colored Jones polynomial
Authors: Kaiser Uwe , Mishra Rama 
Published: March 2024

Using the flow property of the [Formula: see text]-matrix defining the colored Jones polynomial, we establish a natural bijection between the set of states on the part arc-graph of a link projection and the set of states on a corresponding bichromatic digraph, called arc-graph, as defined by Garoufalidis and Loebl [A non-commutative formula for the colored Jones function, Math. Ann. 336 (2006) 867–900]. We use this to give a new and essentially elementary proof for the knot state-sum formula in [S. Garoufalidis and M. Loebl, A non-commutative formula for the colored Jones function, Math. Ann. 336 (2006) 867–900]. We will show that the state-sum contributions of states on the part arc-graph defined by the universal [Formula: see text]-matrix of [Formula: see text] correspond, under our bijection of sets of states, to the contributions in [S. Garoufalidis and M. Loebl, A non-commutative formula for the colored Jones function, Math. Ann. 336 (2006) 867–900]. This will show that the two state models are in fact not essentially distinct. Our approach will also extend the formula of Garoufalidis and Loebl to links. This requires some additional nontrivial observations concerning the geometry of states on the part arc-graphs. We will discuss in detail the computation of the arc-graph state-sum, in particular for [Formula: see text]-braid closures.
The Atlantic Jigsaw Puzzle and the geoheritage of Angola
Authors: Jacobs Louis L. , Schröder Stefan , de Sousa Nair , Dixon Richard , Fiordalisi Edoardo , Marechal Arthur , Mateus Octávio , Nsungani Pedro Claude , Polcyn Michael J. , Pereira Gustavo do Couto Ramos , Rochelle-Bates Nathan , Schulp Anne S. , Scotese Christopher R. , Sharp Ian , Silvano Carlos Gaudari , Swart Roger , Vineyard Diana P. 
Published: March 2024

Abstract
The jigsaw-puzzle fit of South America and Africa is an icon of plate tectonics and continental drift. Fieldwork in Angola since 2002 allows the correlation of onshore outcrops and offshore geophysical and well-core data in the context of rift, sag, salt, and post-salt drift phases of the opening of the central South Atlantic. These outcrops, ranging in age from >130 Ma to <71 Ma, record Early Cretaceous outpouring of the Etendeka–Paraná Large Igneous Province (Bero Volcanic Complex) and rifting, followed by continental carbonate and siliciclastic deposition (Tumbalunda Formation) during the sagging of the nascent central South Atlantic basin. By the Aptian, evaporation of sea water resulted in thick salt deposits (Bambata Formation), terminated by seafloor spreading. The Equatorial Atlantic Gateway began opening by the early Late Cretaceous (100 Ma) and allowed flow of currents between the North and South Atlantic, creating environmental conditions that heralded the introduction of marine reptiles. These dramatic outcrops are a unique element of geoheritage because they arguably comprise the most complete terrestrially exposed geological record of the puzzle-like icon of continental drift.
Porous Zinc Oxide and Functionalized Multiwalled Carbon Nanotubes Composite as Electrode Material for Enhanced Electrochemical Sensing of an Anticancer Drug, Dasatinib
Authors: Korgaonkar Karuna , Agadi Naveenkumar P. , Seetharamappa J. 
Published: March 2024

An anticancer drug, dasatinib (DAS), is used to treat prostate cancer, chronic myelogenous leukaemia, and acute lymphoblastic leukaemia. In the present work, we describe the preparation of zinc oxide (ZnO) nanoparticles (NPs) using Averrhoa bilimbi leaf extract. These ZnO NPs were combined with functionalized multi-walled carbon nanotubes (f-MWCNT) to prepare a ZnO@f-MWCNT nanocomposite for electrochemical sensing of DAS. The prepared electrode materials, ZnO NPs, f-MWCNT, and ZnO@f-MWCNT, were characterised by powder X-ray diffraction (XRD), scanning electron microscopy (SEM), the Fourier-transform infrared (FT-IR) spectroscopy, atomic force microscopy (AFM), zeta potential, and the dynamic light scattering (DLS) techniques. DAS exhibited a significant enhancement (18-fold) in the oxidation peak current at ZnO@f-MWCNT, 10-fold at f-MWCNT, and 6-fold at ZnO NPs as compared to that at bare GCE. Under optimised conditions, a linear relationship was noticed among the peak current and concentration of DAS in the range of 0.03–82.65 μM and 0.01–122.45 μM for the differential pulse voltammetric (DPV), and square wave voltammetric (SWV) methods, respectively. Further, the applicability of the proposed sensor was demonstrated by analysing pharmaceutical and biological samples containing DAS. Higher percentage recovery values, and lower relative standard deviation (RSD) values highlighted the accuracy and precision proposed electrochemical methods.
CNP Ameliorates Macrophage Inflammatory Response and Atherosclerosis
Authors: Bao Qiankun , Zhang Bangying , Zhou Lu , Yang Qian , Mu Xiaofeng , Liu Xing , Zhang Shiying , Yuan Meng , Zhang Yue , Che Jingjin , Wei Wen , Liu Tong , Li Guangping , He Jinlong 
Published: March 2024

BACKGROUND:
CNP (C-type natriuretic peptide), an endogenous short peptide in the natriuretic peptide family, has emerged as an important regulator to govern vascular homeostasis. However, its role in the development of atherosclerosis remains unclear. This study aimed to investigate the impact of CNP on the progression of atherosclerotic plaques and elucidate its underlying mechanisms.

METHODS:

Plasma CNP levels were measured in patients with acute coronary syndrome. The potential atheroprotective role of CNP was evaluated in apolipoprotein E-deficient (ApoE
−/−
) mice through CNP supplementation via osmotic pumps, genetic overexpression, or LCZ696 administration. Various functional experiments involving CNP treatment were performed on primary macrophages derived from wild-type and CD36 (cluster of differentiation 36) knockout mice. Proteomics and multiple biochemical analyses were conducted to unravel the underlying mechanism.

RESULTS:

We observed a negative correlation between plasma CNP concentration and the burden of coronary atherosclerosis in patients. In early atherosclerotic plaques, CNP predominantly accumulated in macrophages but significantly decreased in advanced plaques. Supplementing CNP via osmotic pumps or genetic overexpression ameliorated atherosclerotic plaque formation and enhanced plaque stability in ApoE
−/−
mice. CNP promoted an anti-inflammatory macrophage phenotype and efferocytosis and reduced foam cell formation and necroptosis. Mechanistically, we found that CNP could accelerate HIF-1α (hypoxia-inducible factor 1-alpha) degradation in macrophages by enhancing the interaction between PHD (prolyl hydroxylase domain–containing protein) 2 and HIF-1α. Furthermore, we observed that CD36 bound to CNP and mediated its endocytosis in macrophages. Moreover, we demonstrated that the administration of LCZ696, an orally bioavailable drug recently approved for treating chronic heart failure with reduced ejection fraction, could amplify the bioactivity of CNP and ameliorate atherosclerotic plaque formation.

CONCLUSIONS:
Our study reveals that CNP enhanced plaque stability and alleviated macrophage inflammatory responses by promoting HIF-1α degradation, suggesting a novel atheroprotective role of CNP. Enhancing CNP bioactivity may offer a novel pharmacological strategy for treating related diseases.
Stroke Causes DNA Methylation at
Ncx1
Heart Promoter in the Brain Via DNMT1/MeCP2/REST Epigenetic Complex
Authors: Guida Natascia , Serani Angelo , Sanguigno Luca , Mascolo Luigi , Cuomo Ornella , Fioriniello Salvatore , Marano Domenico , Ragione Floriana Della , Anzilotti Serenella , Brancaccio Paola , Molinaro Pasquale , Pignataro Giuseppe , Annunziato Lucio , Formisano Luigi 
Published: March 2024

Background

REST (Repressor‐Element 1 [RE1]‐silencing transcription factor) inhibits Na
+
/Ca
2+
exchanger‐1 (
Ncx1
) transcription in neurons through the binding of RE1 site on brain promoter
(Br)
after stroke. We identified a new putative RE1 site in
Ncx1
heart promoter
(Ht)
sequence (
Ht
‐RE1) that participates in neuronal
Ncx1
transcription. Because REST recruits DNA‐methyltransferase‐1 (DNMT1) and MeCP2 (methyl‐CpG binding protein 2) on different neuronal genes, we investigated the role of this complex in
Ncx1
transcriptional regulation after stroke.

Methods and Results

Luciferase experiments performed in SH‐SY5Y cells demonstrated that
Br
activity was selectively decreased by REST, whereas
Ht
activity was reduced by DNMT1, MeCP2, and REST. Notably, site‐direct mutagenesis of
Ht‐
RE1 prevented REST‐dependent downregulation of
Ncx1
. Furthermore, in temporoparietal cortex of 8‐week‐old male wild‐type mice (C57BL/6) subjected to transient middle cerebral artery occlusion, DNMT1, MeCP2, and REST binding to
Ht
promoter was increased, with a consequent DNA promoter hypermethylation. Intracerebroventricular injection of siREST prevented DNMT1/MeCP2 binding to
Ht
and
Ncx1
downregulation, thus causing a reduction in stroke‐induced damage. Consistently, in cortical neurons subjected to oxygen and glucose deprivation plus reoxygenation
Ncx1
knockdown counteracted neuronal protection induced by the demethylating agent 5‐azacytidine. For comparisons between 2 experimental groups, Student's
t
test was used, whereas for more than 2 experimental groups, 1‐way ANOVA was used, followed by Tukey or Newman Keuls. Statistical significance was set at
P
<0.05.

Conclusions

If the results of this study are confirmed in humans, it could be asserted that DNMT1/MeCP2/REST complex disruption could be a new pharmacological strategy to reduce DNA methylation of
Ht
in the brain, ameliorating stroke damage.
Ankle–Brachial Index and Risk of Sudden Cardiac Death in the Community: The ARIC Study
Authors: Suzuki Takeki , Zhu Xiaoqian , Adabag Selcuk , Matsushita Kunihiro , Butler Kenneth R. , Griswold Michael E. , Alonso Alvaro , Rosamond Wayne , Sotoodehnia Nona , Mosley Thomas H. 
Published: March 2024

Background
Sudden cardiac death (SCD) is a significant global public health problem accounting for 15% to 20% of all deaths. A great majority of SCD is associated with coronary heart disease, which may first be detected at autopsy. The ankle–brachial index (ABI) is a simple, noninvasive measure of subclinical atherosclerosis. The purpose of this study was to examine the relationship between ABI and SCD in a middle‐aged biracial general population.

Methods and Results
Participants of the ARIC (Atherosclerosis Risk in Communities) study with an ABI measurement between 1987 and 1989 were included. ABI was categorized as low (≤0.90), borderline (0.90–1.00), normal (1.00–1.40), and noncompressible (>1.40). SCD was defined as a sudden pulseless condition presumed to be caused by a ventricular tachyarrhythmia in a previously stable individual and was adjudicated by a committee of cardiac electrophysiologists, cardiologists, and internists. Cox proportional hazards models were used to evaluate the associations between baseline ABI and incident SCD. Of the 15 081 participants followed for a median of 23.5 years, 556 (3.7%) developed SCD (1.96 cases per 1000 person‐years). Low and borderline ABIs were associated with an increased risk of SCD (demographically adjusted hazard ratios [HRs], 2.27 [95% CI, 1.64–3.14] and 1.52 [95% CI, 1.17–1.96], respectively) compared with normal ABI. The association between low ABI and SCD remained significant after adjustment for traditional cardiovascular risk factors (HR, 1.63 [95% CI, 1.15–2.32]).

Conclusions
Low ABI is independently associated with an increased risk of SCD in a middle‐aged biracial general population. ABI could be incorporated into future SCD risk prediction models.
Relationship of Mild to Moderate Impairment of Left Ventricular Ejection Fraction With Fatal Ventricular Arrhythmic Events in Cardiac Sarcoidosis
Authors: Akama Yuka , Fujimoto Yudai , Matsue Yuya , Maeda Daichi , Yoshioka Kenji , Dotare Taishi , Sunayama Tsutomu , Nabeta Takeru , Naruse Yoshihisa , Kitai Takeshi , Taniguchi Tatsunori , Sato Shuntaro , Tanaka Hidekazu , Okumura Takahiro , Baba Yuichi , Minamino Tohru 
Published: March 2024

Background
Current guidelines recommend placing an implantable cardiac defibrillator for patients with cardiac sarcoidosis and a severely impaired left ventricular ejection fraction (LVEF) of ≤35%. In this study, we determined the association between mild or moderate LVEF impairment and fatal ventricular arrhythmic event (FVAE).

Methods and Results
We retrospectively analyzed 401 patients with cardiac sarcoidosis without sustained ventricular arrhythmia at diagnosis. The primary end point was an FVAE, defined as the combined endpoint of documented ventricular tachycardia or ventricular fibrillation and sudden cardiac death. Two cutoff points for LVEF were used: a sex‐specific lower threshold of normal range of LVEF (52% for men and 54% for women) and an LVEF of 35%, which is used in the current guidelines. During a median follow‐up of 3.2 years, 58 FVAEs were observed, and the 5‐ and 10‐year estimated incidences of FVAEs were 16.8% and 23.0%, respectively. All patients were classified into 3 groups according to LVEF: impaired LVEF group, mild to moderate impairment of LVEF group, and maintained LVEF group. Multivariable competing risk analysis showed that both the impaired LVEF group (hazard ratio [HR], 3.24 [95% CI, 1.49–7.04]) and the mild to moderate impairment of LVEF group (HR, 2.16 [95% CI, 1.04–4.46]) were associated with a higher incidence of FVAEs than the maintained LVEF group after adjustment for covariates.

Conclusions
Patients with cardiac sarcoidosis are at a high risk of FVAEs, regardless of documented ventricular arrhythmia at the time of diagnosis. In patients with cardiac sarcoidosis, mild to moderate impairment of LVEF is associated with FVAEs.
Latino–White Disparities in Identification and Control of Elevated Blood Pressure Among Adults With Hypertension
Authors: Boston David , Hwang Jun , Lucas Jennifer A. , Marino Miguel , Larson Zoe , Sun Evelyn , Giebultowicz Sophia , Crookes Danielle M. , Rodriguez Carlos J. , Heintzman John 
Published: March 2024

Background
Studies analyzing blood pressure (BP) management using the hypertension control cascade have consistently shown disparities in hypertension awareness, treatment, and BP control between Latino patients and non‐Latino White patients. We analyze this cascade using electronic health record data from a multistate network of community health centers.

Methods and Results
Data from 790 clinics in 23 US states from 2012 to 2020, including 1 270 174 patients, were analyzed to compare BP documentation in the electronic health record, clinician acknowledgment (diagnosis or treatment) of incident hypertension (BP ≥140/90), medication prescription, and BP control between non‐Latino White patients, English‐preferring Latino patients, and Spanish‐preferring Latino patients, adjusted for patient‐level covariates, and clustered on patients' primary clinics. Among the 429 182 patients with elevated BP (≥140/90) during ambulatory visits from 2012 to 2020, we found that clinician acknowledgment of hypertension was more likely in Spanish‐preferring and English‐preferring Latino patients versus non‐Latino White patients (adjusted odds ratio [aOR], 1.17 [95% CI, 1.11–1.24]; aOR, 1.07 [95% CI, 1.02–1.12], respectively). In addition, Spanish‐preferring Latino patients were more likely to receive a medication versus non‐Latino White patients (aOR, 1.21 [95% CI, 1.16–1.28]). Among those receiving medication, Latino patients were as likely as non‐Latino White patients to have their BP controlled (<140/90).

Conclusions
In a large retrospective study of community health center patients with incident hypertension, the expected disparities in hypertension management between Spanish‐preferring Latino, English‐preferring Latino, and non‐Latino White patients were not identified. These findings add to the hypertension control cascade by examining robust electronic health record data from community health centers and may provide clues to reducing disparities in hypertension management.