bluuebunny/crossref_metadata_2025_split huggingface dataset:
Hereditary and cortical morphological biomarker of sensitivity to reward in short-term withdrawal methamphetamine abusers
Authors: Yang Longtao , Yang Wenhan , Tang Fei , Yuan Kai , Zhang Jun , Liu Jun 
Published: April 2024

Abstract
Higher sensitivity to reward (SR) and weaker sensitivity to punishment (SP) construct the fundamental craving characteristics of methamphetamine abuse. However, few studies have appraised relationships between SR/SP (SR or SP) and cortical morphological alterations in methamphetamine abusers and whether hereditary factors take effects on SR/SP is unclear. Based on surface-based morphometric analysis, cortical discrepancy was investigated between 38 methamphetamine abusers and 37 healthy controls. Within methamphetamine abusers, correlation profiling was performed to discover associations among aberrant neuroimaging substrates, SR, SP, and craving. According to nine single nucleotide polymorphism sites of dopamine-related genes, we conducted univariate general linear model to find different effects of genotypes on cortical alterations and SR/SP/craving (SR, SP, or craving). Ultimately, mediation analyses were conducted among single nucleotide polymorphism sites, SR/SP/craving, and cortical morphological alterations to discover their association pathways. Compared to healthy controls, thinner cortices in inferior temporal gyrus, lateral orbitofrontal cortex, medial orbitofrontal cortex, inferior parietal lobule, and lateral occipital cortex in the left hemisphere were found in methamphetamine abusers (P &lt; 0.05, family-wise error corrected). Cortical thickness in the inferior temporal gyrus was negatively correlated with SR scores. We found that rs1800497 A-containing genotypes had lower cortical thickness in the left inferior parietal lobule than the GG genotype. The rs5751876 had effects on SR scores. This study would provide convincing biomarkers for SR in methamphetamine abusers and offer potential genetic targets for personalizing relapse prevention.
Network-wise analysis of movie-specific information in dynamic functional connectivity using COBE
Authors: Mittal Priyanka , Sao Anil K , Biswal Bharat , Di Xin , Dileep Aroor Dinesh 
Published: April 2024

Abstract
Movie watching during functional magnetic resonance imaging has emerged as a promising tool to measure the complex behavior of the brain in response to a stimulus similar to real-life situations. It has been observed that presenting a movie (sequence of events) as a stimulus will lead to a unique time course of dynamic functional connectivity related to movie stimuli that can be compared across the participants. We assume that the observed dynamic functional connectivity across subjects can be divided into following 2 components: (i) specific to a movie stimulus (depicting group-level behavior in functional connectivity) and (ii) individual-specific behavior (not necessarily common across the subjects). In this work, using the dynamic time warping distance measure, we have shown the extent of similarity between the temporal sequences of functional connectivity while the underlying movie stimuli were same and different. Further, the temporal sequence of functional connectivity patterns related to a movie is enhanced by suppressing the subject-specific components of dynamic functional connectivity using common and orthogonal basis extraction. Quantitative analysis using the F-ratio measure reveals significant differences in dynamic functional connectivity within the somatomotor network and default mode network, as well as between the occipital network and somatomotor networks.
Neural correlates of musical familiarity: a functional magnetic resonance study
Authors: Li Qiang , Liu Guangyuan , Zhang Yuan , Wu Junhua , Huang Rong 
Published: April 2024

Abstract
Existing neuroimaging studies on neural correlates of musical familiarity often employ a familiar vs. unfamiliar contrast analysis. This singular analytical approach reveals associations between explicit musical memory and musical familiarity. However, is the neural activity associated with musical familiarity solely related to explicit musical memory, or could it also be related to implicit musical memory? To address this, we presented 130 song excerpts of varying familiarity to 21 participants. While acquiring their brain activity using functional magnetic resonance imaging (fMRI), we asked the participants to rate the familiarity of each song on a five-point scale. To comprehensively analyze the neural correlates of musical familiarity, we examined it from four perspectives: the intensity of local neural activity, patterns of local neural activity, global neural activity patterns, and functional connectivity. The results from these four approaches were consistent and revealed that musical familiarity is related to the activity of both explicit and implicit musical memory networks. Our findings suggest that: (1) musical familiarity is also associated with implicit musical memory, and (2) there is a cooperative and competitive interaction between the two types of musical memory in the perception of music.
Long-term clinicopathological characteristics of TAFRO syndrome and its relapse: a case series study
Authors: Yoshimura Yusuke , Mizuno Hiroki , Ikuma Daisuke , Yamanouchi Masayuki , Sekine Akinari , Suwabe Tatsuya , Oba Yuki , Kurihara Shigekazu , Sugimoto Hisashi , Inoue Noriko , Yoshimoto Masatoshi , Tanimizu Hikaru , Tsunoda Susumu , Iijima Momoko , Kono Kei , Kinowaki Keiichi , Ohashi Kenichi , Takazawa Yutaka , Hasegawa Eiko , Ubara Yoshifumi , Sawa Naoki 
Published: April 2024

ABSTRACT

Introduction
This study aimed to analyze the clinical course of TAFRO syndrome in patients through extended follow-up, focusing on recurrent cases and long-term remission.

Methods
This was a retrospective case series study. We assessed the clinical course of patients diagnosed with TAFRO syndrome between January 2012 and September 2022 at Toranomon Hospital or Toranomon Hospital Kajigaya, excluding those patients who died during the initial hospitalization.

Results
Twelve patients were included. Baseline characteristics, laboratory findings, treatment modalities, and outcomes were assessed. During the median follow-up period of 1474 days, two patients experienced recurrence following a reduction in tocilizumab (TCZ) dose, whereas two achieved remission for &gt;400 days without TCZ treatment. The remaining eight patients maintained remission under the continued TCZ therapy. Recurrence diagnosis was complicated by the non-simultaneous presentation of the five manifestations of TAFRO syndrome. The patients who experienced recurrence showed milder manifestations and faster recovery than the initial onset. Glomerular endotheliopathy was evident in kidney biopsies during recurrence, which was similar to the initial presentation. In a case where only inflammation preceded other manifestation, a kidney biopsy was pivotal in distinguishing TAFRO syndrome relapse from other inflammatory conditions such as infection. Pretreatment serum IL-6 levels were within the reference range only in patients who experienced long-term remission without TCZ treatment.

Conclusions
This is the first study to perform kidney biopsies on recurrent TAFRO cases, highlighting recurrence after TCZ dosage reduction, non-simultaneous manifestation of symptoms, the utility of kidney biopsies in recurrence diagnosis, and potential non-IL-6 pathogenesis factors. Pretreatment serum IL-6 levels may help identify patients suitable for maintenance therapy without TCZ. Further investigation is warranted to identify stratified treatment approaches based on individual etiologic factors.
Gene expression and ultra-structural evidence for metabolic derangement in the primary mitral regurgitation heart
Authors: Kane Mariame Selma , Juncos Juan Xavier Masjoan , Manzoor Shajer , Grenett Maximiliano , Oh Joo-Yeun , Pat Betty , Ahmed Mustafa I , Lewis Clifton , Davies James E , Denney Thomas S , McConathy Jonathan , Dell’Italia Louis J 
Published: April 2024

Abstract

Aims
Chronic neurohormonal activation and haemodynamic load cause derangement in the utilization of the myocardial substrate. In this study, we test the hypothesis that the primary mitral regurgitation (PMR) heart shows an altered metabolic gene profile and cardiac ultra-structure consistent with decreased fatty acid and glucose metabolism despite a left ventricular ejection fraction (LVEF) &gt; 60%.

Methods and results
Metabolic gene expression in right atrial (RA), left atrial (LA), and left ventricular (LV) biopsies from donor hearts (n = 10) and from patients with moderate-to-severe PMR (n = 11) at surgery showed decreased mRNA glucose transporter type 4 (GLUT4), GLUT1, and insulin receptor substrate 2 and increased mRNA hexokinase 2, O-linked N-acetylglucosamine transferase, and O-linked N-acetylglucosaminyl transferase, rate-limiting steps in the hexosamine biosynthetic pathway. Pericardial fluid levels of neuropeptide Y were four-fold higher than simultaneous plasma, indicative of increased sympathetic drive. Quantitative transmission electron microscopy showed glycogen accumulation, glycophagy, increased lipid droplets (LDs), and mitochondrial cristae lysis. These findings are associated with increased mRNA for glycogen synthase kinase 3β, decreased carnitine palmitoyl transferase 2, and fatty acid synthase in PMR vs. normals. Cardiac magnetic resonance and positron emission tomography for 2-deoxy-2-[18F]fluoro-D-glucose ([18F]FDG) uptake showed decreased LV [18F]FDG uptake and increased plasma haemoglobin A1C, free fatty acids, and mitochondrial damage-associated molecular patterns in a separate cohort of patients with stable moderate PMR with an LVEF &gt; 60% (n = 8) vs. normal controls (n = 8).

Conclusion
The PMR heart has a global ultra-structural and metabolic gene expression pattern of decreased glucose uptake along with increased glycogen and LDs. Further studies must determine whether this presentation is an adaptation or maladaptation in the PMR heart in the clinical evaluation of PMR.
Prevalence and predictive features of metabolic dysfunction-associated steatotic liver disease in type 1 diabetes
Authors: Fuhri Snethlage Coco M , Meijnikman Abraham S , Mak Anne Linde , Rampanelli Elena , Voermans Bas , Callender Cengiz A K , de Groen Pleun , Roep Bart O , van Raalte Daniël H , Knop Filip K , Holleboom Adriaan G , Nieuwdorp Max , Hanssen Nordin M J 
Published: April 2024

Abstract

Aims/hypothesis
The prevalence and severity of metabolic dysfunction-associated steatotic liver disease (MASLD) in type 1 diabetes remain unclear. Therefore, we investigated the prevalence and severity of MASLD in type 1 diabetes and assessed which clinical features are most important in predicting MASLD severity.

Methods
A total of 453 individuals with type 1 diabetes (41.6 ± 15.0 years, 64% female, body mass index [BMI] 25.4 ± 4.2 kg/m2, and HbA1c 55.6 ± 12 mmol/mol) underwent vibration-controlled transient elastography (VCTE), with a controlled attenuation parameter (CAP) score for steatosis (≥280.0 dB/m) and a liver stiffness measurement (LMS) for fibrosis (≥8.0 kPa). A machine learning Extra-Trees classification model was performed to assess the predictive power of the clinical features associated with type 1 diabetes with respect to steatosis and fibrosis.

Results
The prevalence of hepatic steatosis and fibrosis was 9.5% (95% CI, 6.8-12.2) and 3.5% (95% CI, 1.8-5.2). Higher LMS was associated with a longer duration of type 1 diabetes (median 30.5 [IQR 18.0-39.3] years vs 15.0 [IQR 6.0-27.0] years), and individuals were older, had a higher BMI (mean 27.8 ± 5.2 vs 25.3 ± 4.1 kg/m2), and a higher CAP score (mean 211.4 ± 51.7 dB/m vs 241.4 ± 75.6 dB/m). The most important predictive features of fibrosis were duration of type 1 diabetes, age, and systolic blood pressure, with a mean ± SD area under the curve of 0.73 ± 0.03.

Conclusion
Individuals with type 1 diabetes and high blood pressure, older age, higher BMI, and longer duration of disease could be considered at high-risk for developing MASLD.
Group boundaries in the Netherlands: how religion and ethnicity matter for social integration
Authors: Arnold Lena , Fleischmann Fenella 
Published: April 2024

Abstract
Both religion and ethnicity have been found to be important group boundaries for immigrants’ social integration into European societies. However, since both characteristics often overlap, their unique influences remain understudied. Conceptualizing social integration as a form of boundary work, this study aims to disentangle religious and ethnic group distinctions and to examine how they matter for immigrants’ contact with members of the Dutch majority group. Relying on data from four large immigrant groups in the Netherlands, that allows exploiting religious diversity within ethnic groups, we describe differences in contact with Dutch majority members between 13 ethno-religious group combinations, and we perform multiple-group SEM across the 10 largest combinations. Results indicate that while the importance of religious affiliation and ethnicity is group-specific, the strongest boundary for immigrants’ contact with members of the Dutch majority group is that between the religious and non-religious. The relative importance of religion and ethnicity for social integration is explained both by immigrants’ own maintenance of group boundaries and their perception of boundary permeability.
A naturally occurring canine model of syndromic congenital microphthalmia
Authors: Murgiano Leonardo , Banjeree Esha , O'Connor Cynthia , Miyadera Keiko , Werner Petra , Niggel Jessica K , Aguirre Gustavo D , Casal Margret L 
Published: April 2024

Abstract
In humans, the prevalence of congenital microphthalmia is estimated to be 0.2–3.0 for every 10,000 individuals, with nonocular involvement reported in ∼80% of cases. Inherited eye diseases have been widely and descriptively characterized in dogs, and canine models of ocular diseases have played an essential role in unraveling the pathophysiology and development of new therapies. A naturally occurring canine model of a syndromic disorder characterized by microphthalmia was discovered in the Portuguese water dog. As nonocular findings included tooth enamel malformations, stunted growth, anemia, and thrombocytopenia, we hence termed this disorder Canine Congenital Microphthalmos with Hematopoietic Defects. Genome-wide association study and homozygosity mapping detected a 2 Mb candidate region on canine chromosome 4. Whole-genome sequencing and mapping against the Canfam4 reference revealed a Short interspersed element insertion in exon 2 of the DNAJC1 gene (g.74,274,883ins[T70]TGCTGCTTGGATT). Subsequent real-time PCR-based mass genotyping of a larger Portuguese water dog population found that the homozygous mutant genotype was perfectly associated with the Canine Congenital Microphthalmos with Hematopoietic Defects phenotype. Biallelic variants in DNAJC21 are mostly found to be associated with bone marrow failure syndrome type 3, with a phenotype that has a certain degree of overlap with Fanconi anemia, dyskeratosis congenita, Shwachman–Diamond syndrome, Diamond–Blackfan anemia, and reports of individuals showing thrombocytopenia, microdontia, and microphthalmia. We, therefore, propose Canine Congenital Microphthalmos with Hematopoietic Defects as a naturally occurring model for DNAJC21-associated syndromes.
Insights from Hi-C data regarding the Pacific salmon louse (Lepeophtheirus salmonis) sex chromosomes
Authors: Flores Anne-Marie , Christensen Kris A , Siah Ahmed , Koop Ben F 
Published: April 2024

Abstract
Salmon lice, Lepeophtheirus salmonis (family Caligidae), are ectoparasites that have negatively impacted the salmon aquaculture industry and vulnerable wild salmon populations. Researchers have studied salmon lice to better understand their biology to develop effective control strategies. In this study, we updated the chromosome-level reference genome assembly of the Pacific subspecies of L. salmonis using Hi-C data. The previous version placed contigs/scaffolds using an Atlantic salmon louse genetic map. By utilizing Hi-C data from Pacific salmon lice, we were able to properly assign locations to contigs/scaffolds previously unplaced or misplaced. This resulted in a more accurate genome assembly and a more comprehensive characterization of the sex chromosome unique to females (W). We found evidence that the same ZW-ZZ mechanism is common in both Atlantic and Pacific subspecies of salmon lice using PCR assays. The W chromosome was approximately 800 kb in size, which is ∼30 times smaller than the Z chromosome (24 Mb). The W chromosome contained 61 annotated genes, including 32 protein-coding genes, 27 long noncoding RNA (lncRNA) genes, and 2 pseudogenes. Among these 61 genes, 39 genes shared homology to genes found on other chromosomes, while 20 were unique to the W chromosome. Two genes of interest on the W chromosome, prohibitin-2 and kinase suppressor of ras-2, were previously identified as potential sex-linked markers in the salmon louse. However, we prioritized the 20 unique genes on the W chromosome as sex-determining candidates. This information furthers our understanding of the biology of this ectoparasite and may help in the development of more effective management strategies.
Perception of congenital cardiac surgery as a career choice among cardiothoracic surgery trainees in the United Kingdom
Authors: George Joseph , Lotto Attilio 
Published: April 2024

Abstract

OBJECTIVES
Our goal was to evaluate interest among trainees in pursuing congenital cardiac surgery (CCS) as a sub-specialty career and probe for reasons in decline in interest.

METHODS
An anonymized, voluntary survey of cardiothoracic surgical trainees across the United Kingdom and Ireland was conducted from October 2020 to December 2020. The questionnaire included demographics, congenital experience and career intentions.

RESULTS
A total of 43 respondents from all training regions responded with a response rate of 36%. A total of 28% reported having no access to a congenital cardiac unit in their training region, reflecting that 4 out of the 14 regions do not have a congenital unit. Although only 18% of trainees have undertaken a placement, a large proportion (74%) have considered a career in CCS, predominantly (50%) before entering training or in the first half of the training programme (38%). Reasons for not pursuing included discouragement by colleagues (42%) and concerns regarding the training pathway, citing, among other reasons, length of training, limited exposure to operations and uncertainty about career progression. Respondents suggested improvements to the training programme, including increasing exposure and early mentoring and steps to dispel unduly negative perceptions about the specialty.

CONCLUSIONS
A large proportion of cardiothoracic trainees have a negative perception of CCS in terms of career and training. Interest wanes substantially after entry into the United Kingdom cardiothoracic training programme for several reasons. As well as short-term measures to improve exposure to CCS and structure of training, there has to be long-term planning to improve perception about this sub-specialty at all levels.
Tricuspid valve repair for infective endocarditis
Authors: Lorenz Veronica , Mastrobuoni Stefano , Aphram Gaby , Pettinari Matteo , de Kerchove Laurent , El Khoury Gebrine 
Published: April 2024

Abstract

OBJECTIVES
The progressive increase in the use of implantable electronic devices, vascular access for dialysis and the increased life expectancy of patients with congenital heart diseases has led in recent years to a considerable number of right-side infective endocarditis, especially of the tricuspid valve (TV). Although current guidelines recommend TV repair for native tricuspid valve endocarditis (TVE), the percentage of valve replacements remains very high in numerous studies. The aim of our study is to analyse our experience in the treatment of TVE with a reparative approach.

METHODS
This case series includes all the patients who underwent surgery for acute or healed infective endocarditis on the native TV, at the Cliniques Universitaires Saint-Luc (Bruxelles, Belgium) between February 2001 and December 2020.

RESULTS
Thirty-one patients were included in the study. Twenty-eight (90.3%) underwent TV repair and 3 (9.7%) had a TV replacement with a mitral homograft. The repair group was divided into 2 subgroups, according to whether a patch was used during surgery or not. Hospital mortality was 33.3% (n = 1) for the replacement group and 7.1% (n = 2) for repair (P = 0.25). Overall survival at 10 years was 75.6% [95% confidence interval (CI): 52–89%]. Further, freedom from reoperation on the TV at 10 years was 59.3% (95% CI: 7.6–89%) vs 93.7% (95% CI: 63–99%) (P = 0.4) for patch repair and no patch use respectively. Freedom from recurrent endocarditis at 10 years was 87% (95% CI: 51–97%).

CONCLUSIONS
Considering that TVE is more common in young patients, a repair-oriented approach should be considered as the first choice. In the case of extremely damaged valves, the use of pericardial patch is a valid option. If repair is not feasible, the use of a mitral homograft is an additional useful solution to reduce the prosthetic material.