bluuebunny/crossref_metadata_2025_split huggingface dataset:
Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis
Authors: Ruf Wolfgang P , Boros Matej , Freischmidt Axel , Brenner David , Grozdanov Veselin , de Meirelles Joao , Meyer Thomas , Grehl Torsten , Petri Susanne , Grosskreutz Julian , Weyen Ute , Guenther Rene , Regensburger Martin , Hagenacker Tim , Koch Jan C , Emmer Alexander , Roediger Annekathrin , Steinbach Robert , Wolf Joachim , Weishaupt Jochen H , Lingor Paul , Deschauer Marcus , Cordts Isabell , Klopstock Thomas , Reilich Peter , Schoeberl Florian , Schrank Berthold , Zeller Daniel , Hermann Andreas , Knehr Antje , Günther Kornelia , Dorst Johannes , Schuster Joachim , Siebert Reiner , Ludolph Albert C , Müller Kathrin 
Published: May 2023

AbstractTherapy of motoneuron diseases entered a new phase with the use of intrathecal antisense oligonucleotide therapies treating patients with specific gene mutations predominantly in the context of familial amyotrophic lateral sclerosis. With the majority of cases being sporadic, we conducted a cohort study to describe the mutational landscape of sporadic amyotrophic lateral sclerosis. We analysed genetic variants in amyotrophic lateral sclerosis-associated genes to assess and potentially increase the number of patients eligible for gene-specific therapies. We screened 2340 sporadic amyotrophic lateral sclerosis patients from the German Network for motor neuron diseases for variants in 36 amyotrophic lateral sclerosis-associated genes using targeted next-generation sequencing and for the C9orf72 hexanucleotide repeat expansion. The genetic analysis could be completed on 2267 patients. Clinical data included age at onset, disease progression rate and survival. In this study, we found 79 likely pathogenic Class 4 variants and 10 pathogenic Class 5 variants (without the C9orf72 hexanucleotide repeat expansion) according to the American College of Medical Genetics and Genomics guidelines, of which 31 variants are novel. Thus, including C9orf72 hexanucleotide repeat expansion, Class 4, and Class 5 variants, 296 patients, corresponding to ∼13% of our cohort, could be genetically resolved. We detected 437 variants of unknown significance of which 103 are novel. Corroborating the theory of oligogenic causation in amyotrophic lateral sclerosis, we found a co-occurrence of pathogenic variants in 10 patients (0.4%) with 7 being C9orf72 hexanucleotide repeat expansion carriers. In a gene-wise survival analysis, we found a higher hazard ratio of 1.47 (95% confidence interval 1.02–2.1) for death from any cause for patients with the C9orf72 hexanucleotide repeat expansion and a lower hazard ratio of 0.33 (95% confidence interval 0.12–0.9) for patients with pathogenic SOD1 variants than for patients without a causal gene mutation.In summary, the high yield of 296 patients (∼13%) harbouring a pathogenic variant and oncoming gene-specific therapies for SOD1/FUS/C9orf72, which would apply to 227 patients (∼10%) in this cohort, corroborates that genetic testing should be made available to all sporadic amyotrophic lateral sclerosis patients after respective counselling.
The Problem of ‘Uncertainty’ in International Criminal Law and the Common Law ‘Method’
Authors: Akhavan Payam , Mégret Frédéric 
Published: May 2023

Abstract
International criminal law has evolved from abstract ideas of an international criminal jurisdiction in the early twentieth century to encompass a comprehensive set of tribunals, rules, and methods. This article explores the contribution of the common law to the development of international criminal law, drawing on two key historical episodes – the Nuremberg and Tokyo tribunals, and the ad hoc International Criminal Tribunal for the former Yugoslavia (ICTY) and International Criminal Tribunal for Rwanda (ICTR) – to consider the common law’s historic influence over, and relationship to, uncertainty within the system of international criminal law. First, the article highlights how British jurists framed the normative uncertainty vis-à-vis the idea of international criminal justice in their contributions to this Yearbook. Second, it examines the characteristics shared between common law and international criminal law, with a view to appraising the potential relationship of both ‘systems’. Finally, it interrogates the differing treatments of the common law throughout the development of substantive international criminal law over time, considering how judges utilized the common law as they navigated the complex dialectic between ‘statutory’ and ‘judge-made’ law.
Strategic control of location and ordinal context in visual working memory
Authors: Fulvio Jacqueline M , Yu Qing , Postle Bradley R 
Published: May 2023

Abstract
Working memory (WM) requires encoding stimulus identity and context (e.g. where or when stimuli were encountered). To explore the neural bases of the strategic control of context binding in WM, we acquired fMRI while subjects performed delayed recognition of 3 orientation patches presented serially and at different locations. The recognition probe was an orientation patch with a superimposed digit, and pretrial instructions directed subjects to respond according to its location (“location-relevant”), to the ordinal position corresponding to its digit (“order-relevant”), or to just its orientation (relative to all three samples; “context-irrelevant”). Delay period signal in PPC was greater for context-relevant than for “context-irrelevant” trials, and multivariate decoding revealed strong sensitivity to context binding requirements (relevant vs. “irrelevant”) and to context domain (“location-” vs. “order-relevant”) in both occipital cortex and PPC. At recognition, multivariate inverted encoding modeling revealed markedly different patterns in these 2 regions, suggesting different context-processing functions. In occipital cortex, an active representation of the location of each of the 3 samples was reinstated regardless of the trial type. The pattern in PPC, by contrast, suggested a trial type-dependent filtering of sample information. These results indicate that PPC exerts strategic control over the representation of stimulus context in visual WM.
SyntenyViewer: a comparative genomics-driven translational research tool
Authors: Flores Raphael , Huneau Cécile , Burlot Laura , Lainé Mathilde , Kimmel Erik , Pommier Cyril , Alaux Michael , Adam-Blondon Anne-Françoise , Pont Caroline , Quesneville Hadi , Salse Jerome 
Published: May 2023

Abstract
SyntenyViewer is a public web-based tool relying on a relational database available at https://urgi.versailles.inrae.fr/synteny delivering comparative genomics data and associated reservoir of conserved genes between angiosperm species for both fundamental (evolutionary studies) and applied (translational research) applications. SyntenyViewer is made available for (i) providing comparative genomics data for seven major botanical families of flowering plants, (ii) delivering a robust catalog of 103 465 conserved genes between 44 species and inferred ancestral genomes, (iii) allowing us to investigate the evolutionary fate of ancestral genes and genomic regions in modern species through duplications, inversions, deletions, fusions, fissions and translocations, (iv) use as a tool to conduct translational research of key trait-related genes from model species to crops and (v) offering to host any comparative genomics data following simplified procedures and formats
Database URL https://urgi.versailles.inrae.fr/synteny
Female and Male Fertility after Colectomy and Reconstructive Surgery in Inflammatory Bowel Disease: A National Cohort Study from Sweden
Authors: Druvefors Emma , Myrelid Pär , Andersson Roland E , Landerholm Kalle 
Published: May 2023

Abstract

Background and Aims
Colectomy and reconstruction in patients with inflammatory bowel disease [IBD] may adversely affect fertility, but few population-based studies on this subject are available.

Methods
Fertility was assessed in 2989 women and 3771 men with IBD and prior colectomy during 1964–2014, identified from the Swedish National Patient Register, and in 35 092 matched individuals.

Results
Reconstruction with ileoanal pouch anastomosis [IPAA] was as common as ileorectal anastomosis [IRA] in ulcerative colitis [UC] and IBD-unclassified [IBD-U] but rare in Crohn’s disease [CD]. Compared with the matched reference cohort, women with IBD had lower fertility overall after colectomy (hazard ratio [HR] 0.65, confidence interval [CI] 0.61–0.69), with least impact with leaving the rectum intact [HR 0.79, CI 0.70–0.90]. Compared with colectomy only, fertility in female patients remained unaffected after IRA [HR 0.86, CI 0.63–1.17 for UC, 0.86, CI 0.68–1.08 for IBD-U and 1.07, CI 0.70–1.63 for CD], but was impaired after IPAA, especially in UC [HR 0.67, CI 0.50–0.88], and after completion proctectomy [HR 0.65, CI 0.49–0.85 for UC, 0.68, CI 0.55–0.85 for IBD-U and 0.61, CI 0.38–0.96 for CD]. In men, fertility was marginally reduced following colectomy [HR 0.89, CI 0.85–0.94], regardless of reconstruction.

Conclusions
Fertility was reduced in women after colectomy for IBD. The least impact was seen when a deviated rectum was left intact. IRA was associated with no further reduction in fertility, whereas proctectomy and IPAA were associated with the strongest impairment. IRA therefore seems to be the preferred reconstruction to preserve fertility in selected female patients. Fertility in men was only moderately reduced after colectomy.
Sex and age-specific interactions of coronary atherosclerotic plaque onset and prognosis from coronary computed tomography
Authors: van Rosendael Sophie E , Bax A Maxim , Lin Fay Y , Achenbach Stephan , Al-Mallah Mouaz H , Andreini Daniele , Budoff Matthew J , Cademartiri Filippo , Callister Tracy Q , Chinnaiyan Kavitha , Chow Benjamin J W , Cury Ricardo C , DeLago Augustin J , Feuchtner Gudrun , Hadamitzky Martin , Hausleiter Joerg , Kaufmann Philipp A , Kim Yong-Jin , Leipsic Jonathon A , Maffei Erica , Marques Hugo , de Araújo Gonçalves Pedro , Pontone Gianluca , Raff Gilbert L , Rubinshtein Ronen , Villines Todd C , Chang Hyuk-Jae , Berman Daniel S , Min James K , Bax Jeroen J , Shaw Leslee J , van Rosendael Alexander R 
Published: May 2023

Abstract

Aims
The totality of atherosclerotic plaque derived from coronary computed tomography angiography (CCTA) emerges as a comprehensive measure to assess the intensity of medical treatment that patients need. This study examines the differences in age onset and prognostic significance of atherosclerotic plaque burden between sexes.

Methods and results
From a large multi-center CCTA registry the Leiden CCTA score was calculated in 24 950 individuals. A total of 11 678 women (58.5 ± 12.4 years) and 13 272 men (55.6 ± 12.5 years) were followed for 3.7 years for major adverse cardiovascular events (MACE) (death or myocardial infarction). The age where the median risk score was above zero was 12 years higher in women vs. men (64–68 years vs. 52–56 years, respectively, P &lt; 0.001). The Leiden CCTA risk score was independently associated with MACE: score 6–20: HR 2.29 (1.69–3.10); score &gt; 20: HR 6.71 (4.36–10.32) in women, and score 6–20: HR 1.64 (1.29–2.08); score &gt; 20: HR 2.38 (1.73–3.29) in men. The risk was significantly higher for women within the highest score group (adjusted P-interaction = 0.003). In pre-menopausal women, the risk score was equally predictive and comparable with men. In post-menopausal women, the prognostic value was higher for women [score 6–20: HR 2.21 (1.57–3.11); score &gt; 20: HR 6.11 (3.84–9.70) in women; score 6–20: HR 1.57 (1.19–2.09); score &gt; 20: HR 2.25 (1.58–3.22) in men], with a significant interaction for the highest risk group (adjusted P-interaction = 0.004).

Conclusion
Women developed coronary atherosclerosis approximately 12 years later than men. Post-menopausal women within the highest atherosclerotic burden group were at significantly higher risk for MACE than their male counterparts, which may have implications for the medical treatment intensity.
Prognostic impact of artificial intelligence-based fully automated global circumferential strain in patients undergoing stress CMR
Authors: Pezel Théo , Garot Philippe , Toupin Solenn , Hovasse Thomas , Sanguineti Francesca , Champagne Stéphane , Morisset Stéphane , Chitiboi Teodora , Jacob Athira J , Sharma Puneet , Unterseeh Thierry , Garot Jérôme 
Published: May 2023

Abstract

Aims
To determine whether fully automated artificial intelligence-based global circumferential strain (GCS) assessed during vasodilator stress cardiovascular (CV) magnetic resonance (CMR) can provide incremental prognostic value.

Methods and results
Between 2016 and 2018, a longitudinal study included all consecutive patients with abnormal stress CMR defined by the presence of inducible ischaemia and/or late gadolinium enhancement. Control subjects with normal stress CMR were selected using a propensity score-matching. Stress-GCS was assessed using a fully automatic machine-learning algorithm based on featured-tracking imaging from short-axis cine images. The primary outcome was the occurrence of major adverse clinical events (MACE) defined as CV mortality or nonfatal myocardial infarction. Cox regressions evaluated the association between stress-GCS and the primary outcome after adjustment for traditional prognosticators. In 2152 patients [66 ± 12 years, 77% men, 1:1 matched patients (1076 with normal and 1076 with abnormal CMR)], stress-GCS was associated with MACE [median follow-up 5.2 (4.8–5.5) years] after adjustment for risk factors in the propensity-matched population [adjusted hazard ratio (HR), 1.12 (95% CI, 1.06–1.18)], and patients with normal CMR [adjusted HR, 1.35 (95% CI, 1.19–1.53), both P &lt; 0.001], but not in patients with abnormal CMR (P = 0.058). In patients with normal CMR, an increased stress-GCS showed the best improvement in model discrimination and reclassification above traditional and stress CMR findings (C-statistic improvement: 0.14; NRI = 0.430; IDI = 0.089, all P &lt; 0.001; LR-test P &lt; 0.001).

Conclusion
Stress-GCS is not a predictor of MACE in patients with ischaemia, but has an incremental prognostic value in those with a normal CMR although the absolute event rate remains low.
Fulminant biventricular multivalvular infective endocarditis in complex congenital heart disease: a case report
Authors: Abbate Massimiliana , Fusco Flavia , Columbano Laura , Sarubbi Berardo , Scognamiglio Giancarlo 
Published: May 2023

Abstract

Background
Infective endocarditis (IE) is a major issue during follow-up of adults with congenital heart disease (ACHD), leading to significant mortality.

Case summary
A 37-year-old woman with transposition of great arteries and previous Mustard operation developed a drug-resistant pneumonia shortly after a pacemaker implant procedure performed at a local hospital. After referral to the ACHD centre, the patient was diagnosed with multivalvular IE with biventricular involvement by methicillin-resistant Staphylococcus aureus. On admission, the patient was already in acute respiratory distress and presented both systemic and pulmonary embolization. Despite adequate treatment was promptly started, the patient developed multiorgan failure.

Discussion
This case depicts a particularly aggressive of infective endocarditis forms caused with biventricular involvement and multiple embolization. Patients with congenital heart disease are at high risk of IE with adverse impact on the prognosis. Early recognition and treatment are the keys to improve prognosis. Therefore, suspicion should be high, especially following invasive procedure, which should be preferably performed at ACHD specialized centres.
The effect of micro-osteoperforation on the rate of tooth movement during the alignment stage in patients with mandibular crowding: a randomised controlled trial
Authors: Faik Sahin Mucahid , Baysal Asli 
Published: May 2023

Abstract

Background
Orthodontic treatment is a long process that requires patient cooperation. Risks of side effects such as caries formation, periodontal problems, and root resorption increases as well as problems in patient cooperation arises with longer treatments. Several different techniques were developed that may shorten the treatment time.

Objective
The aim of this study was to evaluate the effectiveness of micro-osteoperforations (MOPs) performed during the alignment stage.

Trial design
Randomized controlled trial.

Methods
Twenty-eight subjects who had crowding in the mandibular arch were included in the study. The first group (4 boys and 10 girls, mean age = 17.21 ± 3.76 years) was treated with MOP (MOP) and the second group (8 boys and 6 girls, mean age = 15.29 ± 1.77 years) was treated without MOP (control). Cephalometric variables, periodontal parameters, Little irregularity index, alignment duration, patient satisfaction, and ease of operation were evaluated. The level of statistical significance was P ≤ 0.05.

Results
Alignment duration was shorter (P = 0.000) in the MOP group (105.57 ± 18.34 days) compared to control group (135.86 ± 15.12 days). Alleviating of the crowding was more in the MOP group, compared to the control group in all time points. The pain level in the MOP group in the first appointment was higher compared to control group (P = 0.002). There was no significant difference between the groups in cephalometric parameters. Higher increases were found for gingival index (P = 0.008) and bleeding index (P = 0.039) in the control group compared to MOP group at the end of treatment

Limitations
The study was a single-centre study.

Conclusion
Alignment stage was shortened with MOP application. There was no difference between groups for patient satisfaction and pain level except for the first appointment. No difference was observed between the groups regarding cephalometric values. Clinically insignificant inflammation was observed in periodontal tissues for both groups.

Registration
This study was registered at the Clinical Trials Registry (ClinicalTrials.gov NCT03652454).
The Evolution of the Discrete Multirenculate Kidney in Mammals from Ecological and Molecular Perspectives
Authors: Zhou Xu , Rong Wenqi , Guo Boxiong , He Xiaofang , Cao Li , Zheng Yu , Xu Shixia , Yang Guang , Ren Wenhua 
Published: May 2023

AbstractMammals have developed different kinds of renal structures during evolution, yet the origin of the renal structural phenotypes and the molecular mechanisms underlying their adaptive evolution remains unclear. Here, we reconstructed the ancestral state of the renal structures across mammals and found that the unilobar kidney was the ancestral character in mammals. The subsequent correlation analyses between renal phenotypes and life history traits revealed that species with a larger body or in aquatic habitats tend to have evolved discrete multirenculate kidneys (DMKs). To explore the molecular convergent mechanisms among mammals with this most distinct renal structure, the DMK, we used 45 genes related to duplex/multiplex kidney diseases to compare the evolutions of species with DMKs and with other renal phenotypes. Twelve rapidly evolving genes that were functionally enriched in cilium assembly and centrosome were identified in species with DMKs, suggesting that these genes played key roles in the evolution of DMKs. In addition, positive selection was detected in six crucial genes which are mainly involved in epithelial tube morphogenesis and the regulation of neurogenesis. Finally, 12 convergent amino acid substitutions, 6 of which are in crucial domain of proteins, were shared by 2 or more lineages with DMKs. These findings could provide some novel insights into the origin and evolution of renal structures across mammals and the pathogenesis of renal diseases in humans.
Continuity of maternal and infant care through integrated health service delivery networks in Latin America: a scoping review
Authors: Panjwani Sonya , Garney Whitney R , Wilson Kelly , Goodson Patricia , Hamie Silva 
Published: May 2023

AbstractLatin America has experienced substantial development over the last three decades; however, development has been uneven with persistent inequalities, especially in the areas of maternal and child health. Since the early 1990s, most Latin American health-care systems have undergone a series of reforms to improve access to services, with the most recent being the implementation of integrated health service delivery networks (IHSDNs). This model posits that patients will receive better continuity of care and higher-quality health services and avoid duplicated efforts. While decreased maternal and infant mortality rates have been observed in the region since IHSDN implementation, there is limited evidence on this model’s implications for maternal and infant care. The purpose of this study is to explore how IHSDNs affect access to and continuity of maternal and infant care in Latin America, according to the peer-reviewed literature. A scoping review was conducted systematically to identify peer-reviewed articles published since 2007 on studies that took place in Latin America, include IHSDNs, focus on the antenatal and/or postnatal period, include women and/or infants under 2 years of age and are written in English, Spanish or Portuguese. Seven studies (n = 7) met the inclusion criteria for this review. Barriers identified were related to person-centred care (n = 5) and logistical challenges (n = 5). The most cited facilitator encompassed social support for women when accessing care (n = 3). Potential solutions to improve care access included an improvement in the network structure and a greater focus on care provision, rather than regulations and compliance. Findings from this study suggest that the IHSDN model has the potential to improve care for women during pregnancy and post-birth if the model is implemented to its full extent. However, implementation of the model in Latin America is still weak, creating barriers for women when seeking care, particularly for disparate populations and those residing in rural areas.
Examining the feasibility of a youth advocacy program promoting healthy snacking in New York City: a mixed-methods process evaluation
Authors: Gangrade Navika , Botchwey Nisha , Leak Tashara M 
Published: May 2023

Abstract
Adolescents from urban communities are at risk for unhealthy snacking behaviors. Youth advocacy interventions are shown to improve certain adolescent health behaviors, such as substance use. However, it remains unclear if youth advocacy is a feasible method to promote healthy snacking. As such, the aim of this study was to examine the feasibility of a youth advocacy program promoting healthy snacking among adolescents in New York City by conducting a mixed-methods process evaluation. Adolescents (12–18 years) at a Boys and Girls Club in New York City were recruited to participate in a 12-session adaptation of the Youth Engagement and Action for Health! program to advocate for the promotion of healthy snacks in corner stores. A mixed-methods process evaluation was conducted to assess recruitment, reach (attendance), dose delivered (amount of intervention delivered), fidelity (degree to which intervention was implemented according to curriculum) and dose received (participant engagement/satisfaction). Satisfaction was also evaluated through focus groups. Descriptive statistics were calculated for quantitative data, and focus groups were analyzed using thematic analysis. Participant retention (94.74%), attendance (93.52%), dose delivered (98.94%), fidelity (98.5%), engagement (4.97/5) and program satisfaction (4/5) were high. Focus groups (n = 6; 28 participants) revealed that participants learned about nutrition, enjoyed being advocates and improved snacking behaviors.