bluuebunny/crossref_metadata_2025_split huggingface dataset:
Natural hydrogen: sources, systems and exploration plays
Authors: Jackson Owain , Lawrence Steve R. , Hutchinson Ian P. , Stocks Andrew E. , Barnicoat Andrew C. , Powney Mike 
Published: April 2024

Several sources of natural hydrogen are known or postulated but the process of serpentinization, the action of water on ultramafic rocks, is shown to be the most effective. Studies indicate that the rates and volumes generated by high-temperature serpentinization, (i.e. in the temperature range of 200–320°C), could feed a focused hydrogen system potentially capable of sealing and trapping gas-phase hydrogen in commercially-sized accumulations.
Natural hydrogen is generated by serpentinization wherever ultramafic rocks can be penetrated by aqueous fluids. This includes diverse geotectonic settings ranging from divergent and convergent plate margins to intra-plate orogenic belts and Precambrian cratons.
The ‘hydrogen system’ describes the generation, migration and sealing/trapping of hydrogen. There are two parts to the ‘generic hydrogen system’: the ‘source-generation sub-system’ requires an ultramafic protolith, usually in basement, and a supply of water penetrating basement rocks. In the ‘migration-retention sub-system’ migration, sealing and entrapment of gas-phase hydrogen behaves the same as for hydrocarbon gases.
The hydrogen system by serpentinization is used to develop play models to guide exploration in the accessible and exploitable geotectonic settings of continental cratons, ophiolites and convergent margins.

Thematic collection:
This article is part of the Hydrogen as a future energy source collection available at:
https://www.lyellcollection.org/topic/collections/hydrogen
Leucine-Rich Repeat Kinases
Authors: Alessi Dario R. , Pfeffer Suzanne R. 
Published: April 2024

Activating mutations in leucine-rich repeat kinase 2 (LRRK2) represent the most common cause of monogenic Parkinson's disease. LRRK2 is a large multidomain protein kinase that phosphorylates a specific subset of the ∼65 human Rab GTPases, which are master regulators of the secretory and endocytic pathways. After phosphorylation by LRRK2, Rabs lose the capacity to bind cognate effector proteins and guanine nucleotide exchange factors. Moreover, the phosphorylated Rabs cannot interact with their cognate prenyl-binding retrieval proteins (also known as guanine nucleotide dissociation inhibitors) and, thus, they become trapped on membrane surfaces. Instead, they gain the capacity to bind phospho-Rab-specific effector proteins, such as RILPL1, with resulting pathological consequences. Rab proteins also act upstream of LRRK2 by controlling its activation and recruitment onto membranes. LRRK2 signaling is counteracted by the phosphoprotein phosphatase PPM1H, which selectively dephosphorylates phospho-Rab proteins. We present here our current understanding of the structure, biochemical properties, and cell biology of LRRK2 and its related paralog LRRK1 and discuss how this information guides the generation of LRRK2 inhibitors for the potential benefit of patients.
Abstract P30: MUTATIONAL SIGNATURE ASSIGNMENT HETEROGENEITY IS WIDESPREAD AND CAN BE ADDRESSED BY ENSEMBLE APPROACHES
Authors: Andy Wu Jialun , Perera Akila , Kularatnarajah Linganesan , Korsakova Anna , Pitt Jason James 
Published: April 2024

Abstract
Single base substitution (SBS) mutational signatures have become standard practice in cancer genomics. In lieu of de novo signature extraction, reference signature assignment allows users to estimate the activities of pre-established SBS signatures within individual malignancies. Several tools have been developed for this purpose, each with differing methodologies. However, due to a lack of standardization, there may be inter-tool variability in signature assignment. We deeply characterized three assignment strategies and five SBS signature assignment tools. We observed that assignment strategy choice can significantly influence results and interpretations. Despite varying recommendations by tools, Refit performed best by reducing overfitting and maximizing reconstruction of the original mutational spectra. Even after uniform application of Refit, tools varied remarkably in signature assignments both qualitatively (Jaccard Index = 0.38 – 0.83) and quantitatively (Kendall tau-b = 0.18 – 0.76). This phenomenon was exacerbated for “flat” signatures such as the homologous-recombination repair deficiency (HRD) signature SBS3. An ensemble approach (EnsembleFit), which leverages output from all five tools, increased SBS3 assignment accuracy in BRCA1/2-deficient breast carcinomas. After generating synthetic mutational profiles for thousands of pan-cancer tumors, EnsembleFit reduced signature activity assignment error 15.9 – 24.7% on average using COSMIC and non-standard reference signature sets. We have also released the EnsembleFit web portal (https://www.ensemblefit.pittlabgenomics.com) for users to generate or download ensemble-based SBS signature assignments using any strategy and combination of tools. Overall, we show that signature assignment heterogeneity across tools and strategies is non-negligible and propose a viable, ensemble solution.
Citation Format: Wu Jialun Andy, Akila Perera, Linganesan Kularatnarajah, Anna Korsakova, Jason James Pitt. MUTATIONAL SIGNATURE ASSIGNMENT HETEROGENEITY IS WIDESPREAD AND CAN BE ADDRESSED BY ENSEMBLE APPROACHES [abstract]. In: Proceedings of Frontiers in Cancer Science; 2023 Nov 6-8; Singapore. Philadelphia (PA): AACR; Cancer Res 2024;84(8_Suppl):Abstract nr P30.
Preliminary evidence for altered brain-heart coherence during anxiogenic movies
Authors: Kirk Peter A. , Robinson Oliver J. 
Published: April 2024

Abstract
During states of anxiety, fundamental threat circuitry in the brain can increase heart rate via alterations in autonomic balance (increased sympathetic activity and parasympathetic withdrawal) and may serve to promote interoceptive integration and awareness of cardiac signals. Moreover, evidence indicates pathological anxiety could be associated with increased communication between the brain and the heart. Yet, this phenomenon remains not well understood. For instance, studies in this area have been conducted within the confines of tightly controlled experimental paradigms. Whether anxiety impacts brain-heart communication outside of such experimental settings, and in relatively more naturalistic contexts, is less clear. Here, we used a suspenseful movie fMRI paradigm to study induced anxiety (n = 29 healthy volunteers; Caltech Conte dataset; Kliemann et al., 2022). We predicted that brain responses across an anxiety-relevant “defensive response network” (amygdala, hypothalamus, periaqueductal gray, bed nucleus of the stria terminalis, dorsomedial prefrontal cortex, ventromedial prefrontal cortex, subgenual anterior cingulate, and anterior insula; Abend et al., 2022) would show increased coherence with heart rate as participants watched a suspenseful movie clip compared to a non-suspenseful movie clip. Counter to our predictions, we found decreased coherence between heart rate and brain responses during increased anxiety, namely in amygdala-prefrontal circuitry. We suggest these alterations may be underpinned by parasympathetic withdrawal and/or decreased interoceptive awareness during suspenseful movie-watching.
A Grammar of the Jewish Arabic Dialect of Gabes
Authors: Gębski Wiktor 
Published: April 2024

This volume undertakes a linguistic exploration of the endangered Arabic dialect spoken by the Jews of Gabes, a coastal city situated in Southern Tunisia. Belonging to the category of sedentary North African dialects, this variety is now spoken by a dwindling number of native speakers, primarily in Israel and France.
Given the imminent extinction faced by many modern varieties of Judaeo-Arabic, including Jewish Gabes, the study's primary goal is to document and describe its linguistic nuances while reliable speakers are still accessible. Data for this comprehensive study were collected during fieldwork in Israel and France between December 2018 and March 2022.
The volume's primary objective is a meticulous comparative analysis of Jewish Gabes, with a special emphasis on syntax, aiming to discern unique linguistic features through comparison with other North African dialects. The results of the study suggest that the Jewish dialect of Gabes emerged in the first wave of the Arab conquest of the Maghreb, thus exhibiting features that set it apart from its Muslim counterpart. This old variety therefore has the potential to provide invaluable information on the formation of Maghrebi Arabic and the mechanisms of language contact in the pre-Islamic Maghreb.
The volume is organised in three main sections: phonology, morphology, and syntax, with the syntax section adopting historical and typological perspectives to shed light on this linguistic terra incognita.
Which Error Components in TRMM-Based Multisatellite Precipitation Estimates Reduce over Chinese Mainland after Official Bias Adjustments: Systematic or Random?
Authors: Shen Zhehui , Yong Bin , Wu Hao 
Published: April 2024

Abstract
Climatological calibration algorithm (CCA) and satellite–gauge combination (SG) are two official bias adjustments for satellite precipitation estimates (SPE) in the Tropical Rainfall Measuring Mission (TRMM) Multisatellite Precipitation Analysis (TMPA). The CCA is designed for the near-real-time SPEs, while the SG procedure is a final step to merge pure SPEs with gauge observations. This study explored the impacts of CCA and SG on the systematic and random errors of TMPA SPEs. The errors of TMPA version-7 near-real-time products before and after CCA (RT_UC, RT_C), and the research product TMPA 3B42 (V7), were decomposed into systematic and random components, benchmarked by the China Gauge-based Daily Precipitation Analysis (CGDPA). After being calibrated by CCA, RT_C reduced the systematic errors relative to RT_UC over the Chinese mainland, except in the Tibetan Plateau and Tianshan Mountains. However, CCA did not aid in reducing random errors; instead, it even exacerbated the random errors. On the other hand, the SG merging is more effective in reducing systematic errors of SPEs than CCA calibration because of the direct inclusion of simultaneous gauge data from the Global Precipitation Climatology Centre (GPCC). We also found that SG merging reduced the random errors of pure SPEs over regions with relatively higher elevations. Despite lower random errors in V7 over the complex terrain region, the SG unfavorably increased the random errors over southeastern China. The results reported here may offer valuable insights into the effects of CCA and SG techniques drawn from TMPA, with the potential to advance the development of bias-adjusting algorithms for SPEs in the future.
Phase 1, placebo-controlled, single ascending dose trial to evaluate the safety, pharmacokinetics and effect on altered states of consciousness of intranasal BPL-003 (5-methoxy-N,N-dimethyltryptamine benzoate) in healthy participants
Authors: Rucker James Jonathan , Roberts Claire , Seynaeve Mathieu , Young Allan H. , Suttle Ben , Yamamoto Takahiro , Ermakova Anna O. , Dunbar Fiona , Wiegand Frank 
Published: April 2024

Aims: To investigate the safety, tolerability, pharmacokinetics (PK) and pharmacodynamics (PD) of BPL-003, a novel intranasal benzoate salt formulation of 5-methoxy- N,N-dimethyltryptamine (5-MeO-DMT), in healthy participants. Methods: In all, 44 psychedelic-naïve participants enrolled in the double-blind, placebo-controlled single ascending dose study (1–12 mg BPL-003). Concentrations of 5-MeO-DMT and its pharmacologically active metabolite, bufotenine, were determined in plasma and urine. PD endpoints included subjective drug intensity (SDI) rating, the Mystical Experience Questionnaire (MEQ-30) and the Ego Dissolution Inventory (EDI). Results: BPL-003 was well tolerated at doses up to 12 mg. There were no serious adverse events (AEs), and most AEs were mild; the most common being nasal discomfort, nausea, headache and vomiting. 5-MeO-DMT was rapidly absorbed and eliminated; the median time to peak plasma concentration was approximately 8–10 min and the mean terminal elimination half-life was <27 min. 5-MeO-DMT systemic exposure increased approximately dose-proportionally, while plasma bufotenine concentrations and urinary excretion of 5-MeO-DMT and bufotenine were negligible. The intensity of the SDI ratings was associated with plasma 5-MeO-DMT concentrations. MEQ-30 and EDI scores generally increased with the BPL-003 dose; 60% of participants had a ‘complete mystical experience’ at 10 and 12 mg doses. Profound and highly emotional consciousness-altering effects were observed with BPL-003, with a rapid onset and short-lasting duration. Conclusion: The novel intranasal formulation of BPL-003 was well tolerated with dose-proportional increases in PK and PD effects. The short duration of action and induction of mystical experiences suggest clinical potential, warranting further trials. Clinical trial registration: NCT05347849.
Decreased Posterior Tibial Slope and Its Association With Pediatric Posterior Cruciate Ligament Injury
Authors: Vasudevan Rajiv S. , Rupp Garrett E. , Zogby Andrew M. , Wilps Tyler , Paras Tyler , Pennock Andrew T. 
Published: April 2024

Background: Recent adult studies have demonstrated that decreased posterior tibial slope angle (PTSA) may be a risk factor for posterior cruciate ligament (PCL) injury. However, there is no study investigating this phenomenon in a pediatric population. Understanding risk factors for PCL injuries among a pediatric population is important given the recent rise in athletic competition/specialization and sports-related injuries. Hypothesis/Purpose: The purpose of this study was to compare PTSA between pediatric patients sustaining a primary PCL tear compared with age- and sex-matched controls. It was hypothesized that pediatric patients sustaining a PCL tear would have a decreased PTSA compared with controls, with decreased PTSA being associated with higher odds of PCL injury. Study Design: Cohort study; Level of evidence, 3. Methods: The records of all patients sustaining a PCL injury between 2006 and 2021 at a level 1 pediatric trauma center were reviewed. Patients aged ≤18 years with magnetic resonance imaging–confirmed PCL tear were included. Excluded were patients with concomitant anterior cruciate ligament tears, previous PCL reconstruction, or previous coronal plane realignment. A control cohort, with their ligament shown as intact on magnetic resonance imaging scans, was matched based on age and sex. PTSA was measured on lateral radiographs of the injured knee or tibia. The mean PTSA was compared between cohorts, and odds ratios were calculated based on the normal slope range (7°-10°) described in the literature, an upper range (>10°), and a lower range (<7°). Inter- and intrarater reliability were determined via calculation of an intraclass correlation coefficient. Results: Of the 98 patients who sustained a PCL injury in this study period, 59 (60%) met inclusion criteria, and 59 healthy knee controls were matched. There were no differences between the cohorts for age ( P = .90), sex ( P > .99), or body mass index ( P = .74). The PCL cohort had a lower mean ± SD PTSA compared with the control group (5.9°± 2.7° vs 7.3°± 4.3°; P = .03). PTSA <7° was associated with a 2.8 (95% CI, 1.3-6.0; P = .01) times risk of PCL tear. Conversely, PTSA >10° was associated with a 0.27 (95% CI, 0.09-0.81; P = .02) times risk of PCL tear. These PTSA measurements demonstrated acceptable intrarater and interrater reliability. Conclusion: PTSA <7° was associated with an increased odds of PCL injury, whereas a slope >10° was associated with a decreased odds of PCL injury in a pediatric population. These findings corroborate similar outcomes in adult studies; however, further studies are needed to elucidate PTSA as a risk factor for PCL injury.
Effects of Receiving Pain-Related Support on Psychological Well-Being: The Moderating Roles of Emotional Responses to Support
Authors: Nah Suyoung , Martire Lynn M. , Felt John M. 
Published: April 2024

Objectives We investigated whether receiving greater pain-related instrumental support is associated with poorer psychological well-being among chronic pain patients who report less positive (e.g., grateful) or more negative (e.g., angry) emotional responses to support. Methods We conducted regression analyses, utilizing data from two waves of interviews with 152 knee osteoarthritis patients. Three indicators of psychological well-being were examined: depressive symptoms, positive affect, and negative affect. Results Receiving greater support was associated with poorer psychological well-being at baseline, as well as higher depressive symptoms and negative affect at the 18-month follow-up, only among patients with low positive emotional responses to support. Furthermore, receiving greater support was related to poorer psychological well-being at baseline only among patients with high negative emotional responses to support. Discussion Care recipients’ less positive emotional responses to support may be a risk factor for poorer psychological well-being in both the short- and long-term, when receiving greater support.
Predictors of damage accrual and its impact on health-related quality of life of thrombotic antiphospholipid syndrome: Independent validation of the damage index for antiphospholipid syndrome (DIAPS)
Authors: Gaspar Pedro , Fernandes Ana Sofia M , Abrantes Ana Mafalda , Parreira Inês , Silva Inês , Silva Ryan C , Nobre Mariana B , Martins Joana R , Mota Catarina 
Published: April 2024

Objectives We aim to independently assess the validity of the damage index for antiphospholipid syndrome (DIAPS) in thrombotic antiphospholipid syndrome (APS) patients by exploring the prevalence and risk factors of organ damage and evaluating its impact on health-related quality of life (HR-QoL). Methods Cross-sectional study including all thrombotic APS patients (Sydney criteria) attending a Portuguese tertiary centre. Damage was assessed using the DIAPS, and HR-QoL using the 3- and 5-level EuroQol HR-QoL (EQ-D5-3L and 5L), and Visual Analogue Scale (VAS) applied via a phone questionnaire. Spearman’s correlation between DIAPS and the HR-QoL scales was performed. Risk factors for damage accrual and HR-QoL impairment were explored using univariate and multivariate logistic regression. Results Among the 108 patients (female, 65.7%; white, 90.7%; primary APS, 75.9%; median disease duration, 6 years), damage (DIAPS≥1) developed in 48.2% of patients (mean ± SD DIAPS, 3.08 ± 1.83). DIAPS’s neuropsychiatric domain was the most affected (24.2%), followed by the peripheral vascular domain (20.3%). No clinical, demographic nor laboratory parameters were significantly associated with damage. Regarding HR-QoL, pain/discomfort, anxiety/depression and usual activities domains were the most frequently impaired in both scales. DIAPS’s domains correlated similarly with the EQ-5D-3L and 5L scales’ individual domains. Female sex, medical disorders, secondary APS and type of presenting thrombosis (arterial) increased the risk of HR-QoL impairment. Total DIAPS was associated with higher odds of mobility, self-care and pain/discomfort impairment in both EQ-5D-3L and 5L scales but lost its independent risk in multivariable analysis. Conclusion This external validation of DIAPS reinforces the ability of the score to correlate with HR-QoL while also highlighting risk factors for HR-QoL impairment other than damage accrual.
Life Gets Better: Important Resilience Factors When Growing Up With ADHD
Authors: Dangmann Cecilie R. , Skogli Gunhild K. W. , Holthe Mira E. G. , Steffenak Anne K. M. , Andersen Per N. 
Published: April 2024

Objective: To explore emerging adults’ descriptions of important resilience factors when growing up with ADHD. Method: Individual interviews with 10 emerging adults (21–24 years) who participated in a 10-year follow-up study, analyzed using thematic analysis. Results: The main theme was that “life gets better.” Resilience factors contributing to this positive development were strategies to regulate ADHD, valuable relationships, acceptance, seeing positive attributes of ADHD, receiving tailored, non-stigmatizing support, and participating in meaningful activities. Conclusion: Growing up with ADHD was associated with both challenges and positives, but the main resilience theme was that life gets better. A variety of resilience factors contributed to this, but relational and environmental factors seemed particularly important. Acceptance, both from society and self-acceptance, were related to all resilience factors in various ways indicating that better knowledge of ADHD might foster better understanding and acceptance of children and adolescents with ADHD.
Exploring clinical variability in gelsolin amyloidosis: Brazilian family case study with confocal microscopy
Authors: Abreu Caio Brenno , Merlo Bárbara Flores Culau , Varandas Vinícius da Silva , Dias Juliana de Sá Freire Medrado 
Published: April 2024

Introduction: Genetic mutations or inflammatory, degenerative, or neoplastic conditions can trigger amyloidosis. Hereditary gelsolin amyloidosis is a genetic disorder primarily marked by amyloid fibrils composed of misfolded gelsolin fragments. Case Report: We present three sisters with AGel amyloidosis, illustrating its clinical diversity. Patient 1, a 51-year-old, had bilateral ptosis, ocular discomfort, and dry eye syndrome due to cranial nerve involvement. Patient 2, a 53-year-old, experienced progressive bilateral visual impairment. Patient 3, a 50-year-old, exhibited right eye ectropion. Genetic analysis, with the identical mutation, heterozygous c.640G > A (p.Asp214Asn) mutation, confirmed AGel amyloidosis diagnoses, with common findings including lattice corneal amyloidosis, reduced corneal sensitivity, and recurrent corneal erosions. Neurological manifestations included ataxia and peripheral neuropathy, with skin abnormalities observed in patient 1. Ocular involvement severity and distribution varied among patients. Discussion: Common ocular and neurological manifestations validated AGel amyloidosis diagnoses, reinforcing its hereditary basis. Neurological symptoms highlighted the disorder's impact on various organ systems, while skin abnormalities contributed to ocular discomfort. Variable ocular involvement emphasized the disorder's heterogeneity. These patients emphasize hereditary gelsolin amyloidosis's clinical diversity and suggest potential environmental influences on disease expression. Genetic confirmation and confocal microscopy findings reaffirm the genetic basis while raising questions about assessing systemic disease severity, necessitating further investigation in larger cohorts. Ophthalmologists’ specialized care is crucial for managing ocular symptoms, given the absence of a universal cure.