bluuebunny/crossref_metadata_2025_split huggingface dataset:
Functional networks in the infant brain during sleep and wake states
Authors: Yates Tristan S , Ellis Cameron T , Turk-Browne Nicholas B 
Published: September 2023

Abstract
Functional brain networks are assessed differently earlier versus later in development: infants are almost universally scanned asleep, whereas adults are typically scanned awake. Observed differences between infant and adult functional networks may thus reflect differing states of consciousness rather than or in addition to developmental changes. We explore this question by comparing functional networks in functional magnetic resonance imaging (fMRI) scans of infants during natural sleep and awake movie-watching. As a reference, we also scanned adults during awake rest and movie-watching. Whole-brain functional connectivity was more similar within the same state (sleep and movie in infants; rest and movie in adults) compared with across states. Indeed, a classifier trained on patterns of functional connectivity robustly decoded infant state and even generalized to adults; interestingly, a classifier trained on adult state did not generalize as well to infants. Moreover, overall similarity between infant and adult functional connectivity was modulated by adult state (stronger for movie than rest) but not infant state (same for sleep and movie). Nevertheless, the connections that drove this similarity, particularly in the frontoparietal control network, were modulated by infant state. In sum, infant functional connectivity differs between sleep and movie states, highlighting the value of awake fMRI for studying functional networks over development.
Functional gradients reveal altered functional segregation in patients with amnestic mild cognitive impairment and Alzheimer’s disease
Authors: He Yirong , Li Qiongling , Fu Zhenrong , Zeng Debin , Han Ying , Li Shuyu 
Published: September 2023

Abstract
Alzheimer’s disease and amnestic mild cognitive impairment are associated with disrupted functional organization in brain networks, involved with alteration of functional segregation. Connectome gradients are a new tool representing brain functional topological organization to smoothly capture the human macroscale hierarchy. Here, we examined altered topological organization in amnestic mild cognitive impairment and Alzheimer’s disease by connectome gradient mapping. We further quantified functional segregation by gradient dispersion. Then, we systematically compared the alterations observed in amnestic mild cognitive impairment and Alzheimer’s disease patients with those in normal controls in a two-dimensional functional gradient space from both the whole-brain level and module level. Compared with normal controls, the first gradient, which described the neocortical hierarchy from unimodal to transmodal regions, showed a more distributed and significant suppression in Alzheimer’s disease than amnestic mild cognitive impairment patients. Furthermore, gradient dispersion showed significant decreases in Alzheimer’s disease at both the global level and module level, whereas this alteration was limited only to limbic areas in amnestic mild cognitive impairment. Notably, we demonstrated that suppressed gradient dispersion in amnestic mild cognitive impairment and Alzheimer’s disease was associated with cognitive scores. These findings provide new evidence for altered brain hierarchy in amnestic mild cognitive impairment and Alzheimer’s disease, which strengthens our understanding of the progressive mechanism of cognitive decline.
Predicting mild cognitive impairments from cognitively normal brains using a novel brain age estimation model based on structural magnetic resonance imaging
Authors: Choi Uk-Su , Park Jun Young , Lee Jang Jae , Choi Kyu Yeong , Won Sungho , Lee Kun Ho 
Published: September 2023

Abstract
Brain age prediction is a practical method used to quantify brain aging and detect neurodegenerative diseases such as Alzheimer’s disease (AD). However, very few studies have considered brain age prediction as a biomarker for the conversion of cognitively normal (CN) to mild cognitive impairment (MCI). In this study, we developed a novel brain age prediction model using brain volume and cortical thickness features. We calculated an acceleration of brain age (ABA) derived from the suggested model to estimate different diagnostic groups (CN, MCI, and AD) and to classify CN to MCI and MCI to AD conversion groups. We observed a strong association between ABA and the 3 diagnostic groups. Additionally, the classification models for CN to MCI conversion and MCI to AD conversion exhibited acceptable and robust performances, with area under the curve values of 0.66 and 0.76, respectively. We believe that our proposed model provides a reliable estimate of brain age for elderly individuals and can identify those at risk of progressing from CN to MCI. This model has great potential to reveal a diagnosis associated with a change in cognitive decline.
Causal associations between blood lipids and brain structures: a Mendelian randomization study
Authors: Zeng Youjie , Guo Ren , Cao Si , Yang Heng 
Published: September 2023

Abstract
The potential causal association between dyslipidemia and brain structures remains unclear. Therefore, this study aimed to investigate whether circulating lipids are causally associated with brain structure alterations using Mendelian randomization analysis. Genome-wide association study summary statistics of blood lipids and brain structures were obtained from publicly available databases. Inverse-variance weighted method was used as the primary method to assess causality. In addition, four additional Mendelian randomization methods (MR-Egger, weighted median, simple mode, and weighted mode) were applied to supplement inverse-variance weighted. Furthermore, Cochrane’s Q test, MR-Egger intercept test, MR-PRESSO global test, and leave-one-out analysis were performed for sensitivity analyses. After Bonferroni corrections, two causal associations were finally identified: elevated non-high-density lipoprotein cholesterol level leads to higher average cortical thickness (β = 0.0066 mm, 95% confidence interval: 0.0045–0.0087 mm, P = 0.001); and elevated high-density lipoprotein cholesterol level leads to higher inferior temporal surface area (β = 18.6077 mm2, 95% confidence interval: 11.9835–25.2320 mm2, P = 0.005). Four additional Mendelian randomization methods indicated parallel results. Sensitivity tests demonstrated the stability. Overall, the present study showed causal relationships between several lipid profiles and specific brain structures, providing new insights into the link between dyslipidemia and neurological disorders.
Neural network of metaphor comprehension: an ALE meta-analysis and MACM analysis
Authors: Huang Yanyang , Huang Jiayu , Li Le , Lin Tao , Zou Laiquan 
Published: September 2023

Abstract
The comprehension of metaphor, a vivid and figurative language, is a complex endeavor requiring cooperation among multiple cognitive systems. There are still many important questions regarding neural mechanisms implicated in specific types of metaphor. To address these questions, we conducted activation likelihood estimation meta-analyses on 30 studies (containing data of 480 participants) and meta-analytic connectivity modeling analyses. First, the results showed that metaphor comprehension engaged the inferior frontal gyrus, middle temporal gyrus, fusiform gyrus, lingual gyrus, and middle occipital gyrus—all in the left hemisphere. In addition to the commonly reported networks of language and attention, metaphor comprehension engaged networks of visual. Second, sub-analysis showed that the contextual complexity can modulate figurativeness, with the convergence on the left fusiform gyrus during metaphor comprehension at discourse-level. Especially, right hemisphere only showed convergence in studies of novel metaphors, suggesting that the right hemisphere is more associated with difficulty than metaphorical. The work here extends knowledge of the neural mechanisms underlying metaphor comprehension in individual brain regions and neural networks.
Absorptive capacities and external openness in underdeveloped innovation systems: a patent network analysis for Latin American countries 1970–2017
Authors: Bianchi Carlos , Galaso Pablo , Palomeque Sergio 
Published: September 2023

Abstract
This paper contributes to the literature on innovation and development by analysing the absorptive and connectivity capacities of Latin American innovation systems between 1970 and 2017. Applying network analysis to a USPTO database containing Latin American inventors, we build and analyse collaboration networks in the process of invention and knowledge appropriation. The structural properties and the evolution of such networks allow us to measure critical attributes of the Latin American innovation systems. Specifically, the networks exhibit low absorptive capacity and high external openness, which are critical linkages with external nodes in the network growth process. We identify different trajectories of innovation systems within the region, analysing specific paths of capability (de)accumulation and network maturity against the backdrop of national development trajectories.
Real-World Persistency for Inflammatory Bowel Disease Biologics Using Patient Registry Data
Authors: Goss Sawhney Tia , Dobes Angela , O’Charoen Sirimon 
Published: September 2023

Abstract

Background
Although it is a truism that drugs benefit patients only when taken, surprisingly little is known about real-world drug-use persistence and discontinuation, even for expensive biologic drugs.

Methods
We used longitudinal self-reported drug-use data from the inflammatory bowel disease (IBD) Partners registry of people with IBD to construct Kaplan–Meier drug-use persistency graphs for biologic drug-use spans that started between 2017 and 2022.

Results
We examined 2034 drug-use spans for 1594 survey participants. Most of the biologic drugs had a 75%+ persistency rate around the one-year mark and 60%+ persistency at the 3-year mark. The overall persistency and the differences in persistency between drugs were aligned with published literature.

Conclusions
This analysis demonstrates the feasibility of collecting IBD-specific patient-reported drug persistency data via a voluntary patient registry. Patient-reported persistency provides real-world drug persistency data and the patient’s perspectives as to why they discontinued use of the drug—a combination of data and perspective that is not available from any other real-world medical record, claim, and pharmacy data source that are valuable to physician, patients, payers, healthcare policymakers, and health technology assessment organizations.
Role of molecular imaging in the diagnosis of prosthetic aortic valve endocarditis by Bacillus licheniformis: a case report
Authors: Plata-Corona Juan Carlos , González-Ortiz Araceli , García-Cárdenas Mauricio , Espinola-Zavaleta Nilda , Alexanderson-Rosas Erick , Carvajal-Juárez Isabel 
Published: September 2023

Abstract

Background
Infective endocarditis is a challenging diagnosis that usually requires cardiovascular image confirmation as part of the approach. 18F-Fluorodeoxyglucose positron emission tomography/computed tomography (18F-FDG-PET/CT) is an imaging technique more sensible for the diagnosis of prosthetic valve endocarditis (PVE) when echocardiography is inconclusive.

Case summary
We present the case of a 35-year-old man who had a previous Bentall–De Bono procedure 4 years prior that included biological, national institute of cardiology (INC)-type, locally manufactured aortic valve replacement and woven Dacron tube graft implantation in the ascending aorta. He was admitted because of dyspnoea, oedema, fever, and syncope. A complete auriculoventricular blockade was diagnosed, requiring cardiac pacing. Also, infective endocarditis (IE) was suspected. Blood cultures showed the isolation of Bacillus licheniformis. Transthoracic echocardiography, transoesophageal echocardiography, and CT angiography were inconclusive for IE. Treatment was initiated with intravenous (IV) antibiotic therapy, and an extensive protocol for IE, including molecular imaging modalities, was ordered. 99mTc-Ubiquicidin scintigraphy was acquired without abnormal findings. Images of 18F-FDG-PET/CT revealed abnormally intense heterogeneous uptake in the prosthetic aortic annulus in a classic pattern. Applying the modified 2015 Duke criteria for PET/CT, PVE was confirmed.

Discussion
Although the other imaging modalities were negative, the high clinical suspicion made it mandatory to continue the study protocol, remarking on the utility of 18F-FDG-PET/CT on patients categorized as having ‘possible’ endocarditis, as in our patient.
Alcohol septal ablation for hypertrophic obstructive cardiomyopathy and bilateral lung transplantation for idiopathic pulmonary fibrosis: a case report
Authors: Puchnerova Veronika , Bonaventura Jiri , Lischke Robert , Veselka Josef 
Published: September 2023

Abstract

Background
We present an uncommon case of a patient with hypertrophic obstructive cardiomyopathy and idiopathic pulmonary fibrosis. The case demonstrates the importance of pre-transplant cardiology workup and the need of interdisciplinary approach in diagnosing the cause of dyspnoea.

Case summary
The 52-year-old male patient was diagnosed with idiopathic pulmonary fibrosis in 2019 and gradually became oxygen dependent due to progression of dyspnoea. Bilateral lung transplantation was recommended in 2021. During pre-transplant cardiology workup, the patient was diagnosed with hypertrophic cardiomyopathy with left ventricular outflow tract (LVOT) obstruction. Considering the high surgical risk of the patient, alcohol septal ablation was performed with subsequent decrease of LVOT gradient. Bilateral lung transplantation was successfully performed afterwards. The patient’s symptoms improved to NYHA class II at one year follow-up.

Discussion
We present a rare case of combined cause of dyspnoea—coexistence of hypertrophic obstructive cardiomyopathy and idiopathic pulmonary fibrosis in one patient. Due to high surgical risk, the patient underwent alcohol septal ablation with successful elimination of LVOT gradient and subsequently bilateral lung transplantation.
Prevalence and clinical correlations of SF3B1 variants in lactotroph tumours
Authors: Simon Julia , Perez-Rivas Luis Gustavo , Zhao Yining , Chasseloup Fanny , Lasolle Helene , Cortet Christine , Descotes Francoise , Villa Chiara , Baussart Bertrand , Burman Pia , Maiter Dominique , von Selzam Vivian , Rotermund Roman , Flitsch Jörg , Thorsteinsdottir Jun , Jouanneau Emmanuel , Buchfelder Michael , Chanson Philippe , Raverot Gerald , Theodoropoulou Marily 
Published: September 2023

Abstract

Objective
A somatic mutational hotspot in the SF3B1 gene was reported in lactotroph tumours. The aim of our study was to examine the prevalence of driver SF3B1 variants in a multicentre independent cohort of patients with lactotroph tumours and correlate with clinical data.

Design and methods
This was a retrospective, multicentre study involving 282 patients with lactotroph tumours (including 6 metastatic lactotroph tumours) from 8 European centres. We screened SF3B1 exon 14 hotspot for somatic variants using Sanger sequencing and correlated with clinicopathological data.

Results
We detected SF3B1 variants in seven patients with lactotroph tumours: c.1874G &gt; A (p.Arg625His) (n = 4, 3 of which metastatic) and a previously undescribed in pituitary tumours variant c.1873C &gt; T (p.Arg625Cys) (n = 3 aggressive pituitary tumours). In two metastatic lactotroph tumours with tissue available, the variant was detected in both primary tumour and metastasis. The overall prevalence of likely pathogenic SF3B1 variants in lactotroph tumours was 2.5%, but when we considered only metastatic cases, it reached the 50%. SF3B1 variants correlated with significantly larger tumour size; higher Ki67 proliferation index; multiple treatments, including radiotherapy and chemotherapy; increased disease-specific death; and shorter postoperative survival.

Conclusions
SF3B1 variants are uncommon in lactotroph tumours but may be frequent in metastatic lactotroph tumours. When present, they associate with aggressive tumour behaviour and worse clinical outcome.
Associations Between Longitudinal Loneliness, DNA Methylation Age Acceleration, and Cognitive Functioning
Authors: Lynch Morgan , Em Arpawong Thalida , Beam Christopher R 
Published: September 2023

Abstract

Objectives
Loneliness may influence aging biomarkers related to cognitive functioning, for example, through accelerated DNA methylation (DNAm) aging.

Methods
In the present study, we tested whether six common DNAm age acceleration measures mediated the effects of baseline loneliness and five different longitudinal loneliness trajectories on general cognitive ability, immediate memory recall, delayed memory recall, and processing speed in 1,814 older adults in the Health and Retirement Study.

Results
We found that baseline loneliness and individuals who belong to the highest loneliness trajectories had poorer general cognitive ability and memory scores. Only DNAm age acceleration measures that index physiological comorbidities, unhealthy lifestyle factors (e.g., smoking), and mortality risk-mediated effects of baseline loneliness on general cognitive ability and memory functioning but not processing speed. These same DNAm measures mediated effects of the moderate-but-declining loneliness trajectory on cognitive functioning. Additionally, immediate and delayed memory scores were mediated by GrimAge Accel in the lowest and two highest loneliness trajectory groups. Total and mediated effects of loneliness on cognitive functioning outcomes were mainly accounted for by demographic, social, psychological, and physiological covariates, most notably self-rated health, depressive symptomatology, objective social isolation, and body mass index.

Discussion
Current findings suggest that DNAm biomarkers of aging, particularly GrimAge Accel, have promise for explaining the prospective association between loneliness and cognitive functioning outcomes.
Perceived Level of Life Enjoyment and Risk of Developing Disabling Dementia: The Japan Public Health Center–Based Study
Authors: Tajima Tomokazu , Ikeda Ai , Tanigawa Takeshi , Iso Hiroyasu , Yamagishi Kazumasa , Matsumura Takumi , Yasuda Nobufumi , Inoue Manami , Tsugane Shoichiro , Sawada Norie 
Published: September 2023

Abstract

Objectives
Life enjoyment, linked to the ability to engage pleasurably with one’s environment, may be related to the risk of developing dementia. This prospective cohort study examined the association between level of life enjoyment and disabling dementia incidence among Japanese community residents.

Methods
The participants were Japanese, aged 45–74 years old at 5-years follow-up, in the Japan Public Health Center–based Study (N = 38,660). Psychological conditions and other confounding variables were identified through self-administered questionnaires. Incident disabling dementia registered based on the Japan’s Long-Term Care Insurance system from 2006 to 2016. Hazard ratios [95% confidence intervals] were assessed using Cox proportional hazards models.

Results
Over a median follow-up period of 9.4 years, a total of 4,642 cases of disabling dementia developed. Level of life enjoyment was inversely associated with the risk of disabling dementia: the multivariable hazard ratios were 0.75 [0.67–0.84] (p &lt; .001) and 0.68 [0.59–0.78] (p &lt; .001) with medium and high life enjoyment, respectively, compared to low life enjoyment. Furthermore, the association between greater life enjoyment and low risk for disabling dementia was strongest in the subgroup with low–medium mental stress. In the high mental stress group, this association was evident for poststroke disabling dementia, but not for disabling dementia without a history of stroke.

Discussion
A higher level of life enjoyment was associated with a lower risk of disabling dementia, particularly in the low–medium mental stress group. This finding suggests the importance of having life enjoyment by managing mental stress for reducing risk of disabling dementia.
The mediating role of self-compassion in positive education for student mental health during COVID-19
Authors: Pastore Olivia L , Fortier Michelle S 
Published: September 2023

Abstract
In this quasi-experimental design, we tested the hypothesis that a quality of life (QOL) positive education course delivered online during COVID-19 would promote undergraduate students’ mental health by improving self-compassion. A total of 104 students (69 enrolled in the QOL course and 35 in control courses) completed a questionnaire assessing mental health and self-compassion before and after completion of their courses. Two-way mixed ANCOVAs were used to analyse the effects of the positive education course on mental health and self-compassion over time. Compared to control students, QOL students’ mental health and self-compassion significantly increased from baseline to endpoint. A simple mediation analysis confirmed the mediating role of self-compassion between the positive education course and enhanced mental health. This study adds to the emerging literature vis-à-vis positive education and its effects on student mental health through self-compassion.
Erythromelalgia caused by the missense mutation p.Arg220Pro in an alternatively spliced exon of SCN9A (NaV1.7)
Authors: Deuis Jennifer R , Kumble Smitha , Keramidas Angelo , Ragnarsson Lotten , Simons Cas , Pais Lynn , White Susan M , Vetter Irina 
Published: September 2023

Abstract
Erythromelalgia (EM), is a familial pain syndrome characterized by episodic ‘burning’ pain, warmth, and erythema. EM is caused by monoallelic variants in SCN9A, which encodes the voltage-gated sodium channel (NaV) NaV1.7. Over 25 different SCN9A mutations attributed to EM have been described to date, all identified in the SCN9A transcript utilizing exon 6N. Here we report a novel SCN9A missense variant identified in seven related individuals with stereotypic episodes of bilateral lower limb pain presenting in childhood. The variant, XM_011511617.3:c.659G&gt;C;p.(Arg220Pro), resides in the exon 6A of SCN9A, an exon previously shown to be selectively incorporated by developmentally regulated alternative splicing. The mutation is located in the voltage-sensing S4 segment of domain I, which is important for regulating channel activation. Functional analysis showed the p.Arg220Pro mutation altered voltage-dependent activation and delayed channel inactivation, consistent with a NaV1.7 gain-of-function molecular phenotype. These results demonstrate that alternatively spliced isoforms of SCN9A should be included in all genomic testing of EM.