bluuebunny/crossref_metadata_2025_split huggingface dataset:
Guidelines for NGS procedures applied to prenatal diagnosis by the Spanish Society of Gynecology and Obstetrics and the Spanish Association of Prenatal Diagnosis
Authors: Abulí Anna , Antolín Eugenia , Borrell Antoni , Garcia-Hoyos Maria , García Santiago Fe , Gómez Manjón Irene , Maíz Nerea , González González Cristina , Rodríguez-Revenga Laia , Valenzuena Palafoll Irene , Suela Javier 
Published: June 2024

ObjectiveThis document addresses the clinical application of next-generation sequencing (NGS) technologies for prenatal genetic diagnosis and aims to establish clinical practice recommendations in Spain to ensure uniformity in implementing these technologies into prenatal care.MethodsA joint committee of expert obstetricians and geneticists was created to review the existing literature on fetal NGS for genetic diagnosis and to make recommendations for Spanish healthcare professionals.ResultsThis guideline summarises technical aspects of NGS technologies, clinical indications in prenatal setting, considerations regarding findings to be reported, genetic counselling considerations as well as data storage and protection policies.ConclusionsThis document provides updated recommendations for the use of NGS diagnostic tests in prenatal diagnosis. These recommendations should be periodically reviewed as our knowledge of the clinical utility of NGS technologies, applied during pregnancy, may advance.
Validation of the BOADICEA model in a prospective cohort ofBRCA1/2pathogenic variant carriers
Authors: Yang Xin , Mooij Thea M , Leslie Goska , Ficorella Lorenzo , Andrieu Nadine , Kast Karin , Singer Christian F. , Jakubowska Anna , van Gils Carla H , Tan Yen Y , Engel Christoph , Adank Muriel A , van Asperen Christi J , Ausems Margreet G E M , Berthet Pascaline ,   EMBRACE collaborators, Collee Margriet J , Cook Jackie A , Eason Jacqueline , Spaendonck-Zwarts Karin Y van , Evans D. Gareth , Gómez García Encarna B , Hanson Helen , Izatt Louise , Kemp Zoe , Lalloo Fiona , Lasset Christine , Lesueur Fabienne , Musgrave Hannah , Nambot Sophie , Noguès Catherine , Oosterwijk Jan C , Stoppa-lyonnet Dominique , Tischkowitz Marc , Tripathi Vishakha , Wevers Marijke R , Zhao Emily , van Leeuwen Flora E , Schmidt Marjanka K , Easton Douglas F , Rookus Matti A , Antoniou Antonis C 
Published: June 2024

BackgroundNo validation has been conducted for the BOADICEA multifactorial breast cancer risk prediction model specifically inBRCA1/2pathogenic variant (PV) carriers to date. Here, we evaluated the performance of BOADICEA in predicting 5-year breast cancer risks in a prospective cohort ofBRCA1/2PV carriers ascertained through clinical genetic centres.MethodsWe evaluated the model calibration and discriminatory ability in the prospective TRANsIBCCS cohort study comprising 1614BRCA1and 1365BRCA2PV carriers (209 incident cases). Study participants had lifestyle, reproductive, hormonal, anthropometric risk factor information, a polygenic risk score based on 313 SNPs and family history information.ResultsThe full multifactorial model considering family history together with all other risk factors was well calibrated overall (E/O=1.07, 95% CI: 0.92 to 1.24) and in quintiles of predicted risk. Discrimination was maximised when all risk factors were considered (Harrell’s C-index=0.70, 95% CI: 0.67 to 0.74; area under the curve=0.79, 95% CI: 0.76 to 0.82). The model performance was similar when evaluated separately inBRCA1orBRCA2PV carriers. The full model identified 5.8%, 12.9% and 24.0% ofBRCA1/2PV carriers with 5-year breast cancer risks of <1.65%, <3% and <5%, respectively, risk thresholds commonly used for different management and risk-reduction options.ConclusionBOADICEA may be used to aid personalised cancer risk management and decision-making forBRCA1andBRCA2PV carriers. It is implemented in the free-access CanRisk tool (https://www.canrisk.org/).
Place of care and death preferences among recently bereaved family members: a cross-sectional survey
Authors: O'Sullivan Anna , Larsdotter Cecilia , Sawatzky Richard , Alvariza Anette , Imberg Henrik , Cohen Joachim , Öhlén Joakim 
Published: June 2024

ObjectivesThe aim was: (1) to investigate preferred place for end-of-life care and death for bereaved family members who had recently lost a person with advanced illness and (2) to investigate associations between bereaved family members’ preferences and individual characteristics, health-related quality of life, as well as associations with their perception of the quality of care that the ill person had received, the ill person’s preferred place of death and involvement in decision-making about care.MethodsA cross-sectional survey with bereaved family members, employing descriptive statistics and multinominal logistic regression analyses.ResultsOf the 485 participants, 70.7% were women, 36.1% were ≥70 years old, 34.5% were partners and 51.8% were children of the deceased. Of the bereaved family members, 52% preferred home for place of end-of-life care and 43% for place of death. A higher likelihood of preferring inpatient palliative care was associated with being female and having higher education, whereas a lower likelihood of preferring a nursing home for the place of care and death was associated with higher secondary or higher education. Partners were more likely to prefer hospital for place of care and nursing home for place of death.ConclusionsHome was the most preferred place for end-of-life care and death. Bereaved people’s experiences of end-of-life care may impact their preferences, especially if they had a close relationship, such as a partner who had a higher preference for nursing home and hospital care. Conversations about preferences for the place of care and death considering previous experience are encouraged.
Psychological distress and physical symptoms in advanced cancer: cross-sectional study
Authors: Podbury Bridget , Gurgenci Taylan , Huggett Georgie , Greer Ristan , Hardy Janet , Good Phillip 
Published: June 2024

ObjectivesPatients with advanced cancer experience varying physical and psychological symptoms throughout the course of their illness. Depression, anxiety and stress affect overall well-being. This study investigates the correlation between emotional distress and physical symptoms in a cohort of patients with advanced cancer.MethodsThere were 238 patients included in this study. Data from participants in two medicinal cannabis randomised controlled trials were analysed. Patients were aged over 18 years and had advanced cancer. Edmonton Symptom Assessment System, and Depression, Anxiety and Stress Scale (DASS-21) were assessed for all patients at baseline.ResultsModerate-severe depression was reported in 29.8% and moderate-severe anxiety was reported in 47.9% of patients. The emotional subscales of DASS-21 (depression, anxiety, stress) correlated with total symptom distress score (p<0.001) and overall well-being (p<0.001). Depression was correlated with physical symptoms of fatigue, nausea, poor appetite and dyspnoea. Anxiety was correlated with fatigue and dyspnoea. Stress was correlated with fatigue, nausea and dyspnoea.ConclusionsDepression, anxiety and stress were common in this population. The relationship between physical and psychological well-being is complex. A holistic approach to symptom management is required to improve quality of life in patients with advanced cancer.
Modified holographic Ricci interacting dark energy models: dynamical system analysis and Bayesian comparison
Authors: Cid Antonella , Obreque Israel 
Published: June 2024

AbstractWe perform a dynamical system analysis and a Bayesian model selection for a new set of interacting scenarios in the framework of modified holographic Ricci dark energy (MHR-IDE) models. The dynamical analysis shows a modified radiation epoch and a late-time attractor corresponding to an accelerated phase of holographic dark energy. In the Bayesian comparison, we use a combination of background data including type Ia supernovae, cosmic chronometers, the local value of the Hubble constant, baryon acoustic oscillations, and cosmic microwave background data. We find evidence against all the MHR-IDE scenarios studied in comparison with the $$\varLambda $$
Λ
CDM when the full joint analysis is considered.
Hint of a new scalar interaction in LHCb data?
Authors: Datta Alakabha , Marfatia Danny , Mukherjee Lopamudra 
Published: June 2024

AbstractWe explain recent LHCb measurements of the lepton universality ratios, $$R_{D^{(*)}}^{\tau /\ell }\equiv \frac{\mathcal {B}(\bar{B} \rightarrow D^{(*)+} \tau ^- \bar{\nu }_\tau )}{\mathcal {B}(\bar{B} \rightarrow D^{(*)+}\ell ^- \bar{\nu }_\ell )}$$

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decays are significantly affected by the scalar interaction. We construct a simple two Higgs doublet model as a realization of our scenario and consider lepton universality in semileptonic charm and top decays, radiative B decay, B-mixing, and $$Z \rightarrow b \bar{b}$$

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Black bounces in conformal Killing gravity
Authors: Junior José Tarciso S. S. , Lobo Francisco S. N. , Rodrigues Manuel E. 
Published: June 2024

AbstractIn this work, we analyse black bounce solutions in the recently proposed “Conformal Killing gravity” (CKG), by coupling the theory to nonlinear electrodynamics (NLED) and scalar fields. The original motivation of the theory was essentially to fulfill specific criteria that are absent in existing gravitational theories, namely, to obtain the cosmological constant as an integration constant, derive the energy–momentum conservation law as a consequence of the gravitational field equations, rather than assuming it, and not necessarily considering conformally flat metrics as vacuum solutions. In this work, we extend the static and spherically symmetric solutions obtained in the literature, and explore the possibility of black bounces in CKG, coupled to NLED and scalar fields. We find novel NLED Lagrangian densities and scalar potentials, and extend the class of black bounce solutions found in the literature. Furthermore, within black bounce geometries, we find generalizations of the Bardeen-type and Simpson–Visser geometries and explore the regularity conditions of the solutions.
Overexpression of an Engineered SERPINB9 Enhances Allogeneic T-cell Persistence and Efficacy
Authors: Teo Pei Y. , Jung Youngrock , Quach David H. , Koh Joanna , Ong Richard W. , Goh Angeline , Tan Alrina , Ng Chee H. , Seh Cheah C. , Tan Kar W. , Horak Ivan D. , Low Lionel 
Published: June 2024

Abstract
Allogeneic chimeric antigen receptor (CAR)–expressing T cells offer many advantages over autologous therapies, but their benefits are curtailed by graft-versus-host disease and elimination by recipient immune cells. Moreover, just as with autologous therapies, allogeneic CAR T cells are susceptible to activation-induced cell death (AICD) caused by chronic antigen exposure (CAE). Granzyme B– and Fas/Fas ligand–initiated caspase-mediated apoptoses are key mechanisms of T-cell death caused by T/NK cell–mediated allorejection or CAE. We explored a protective strategy of engineering CAR T cells to overexpress variants of the Granzyme B–specific serine protease inhibitor SERPINB9 (SB9) to improve allogeneic T-cell persistence and antitumor efficacy. We showed that the overexpression of an SB9 variant with broadened caspase specificity, SB9(CAS), not only significantly reduced rejection of allogeneic CAR T cells but also increased their resistance to AICD and enabled them to thrive better under CAE, thus improving allogeneic T-cell persistence and antitumor activity in vitro and in vivo. In addition, although SB9(CAS) overexpression improved the efficacy of allogeneic CAR T-cell therapy by conferring protection to cell death, we did not observe any autonomous growth, and the engineered CAR T cells were still susceptible to an inducible suicide switch. Hence, SB9(CAS) overexpression is a promising strategy that can strengthen current development of cell therapies, broadening their applications to address unmet medical needs.
A fully automatic curve localization method for extracted spine
Authors: Xie Aishu , Moung Ervin Gubin , Zhou Xu , Yang Zhibang 
Published: June 2024

The automation of scoliosis positioning presents a challenging and often understated task, yet it holds fundamental significance for the automated analysis of spinal morphological anomalies. This paper introduces a novel spinal curve localization model for precisely differentiating the spinal curves and identifying their concave centers. The proposed model contains three components: i) custom spine central line model, to define the spine central line as a combination of several secant line sequences with different polarities; ii) custom curve model, to classify each spinal curve into one of 11 curves types and deduce each its concave centers by several custom formulas; and iii) adapted distance transform and quadratic line fitting algorithm coupled with custom secant line segment searching strategy (DTQL-LS), to search all line segments in the spine and group consecutive line segments with identical polarity into line sequence. Experimental results show that its positioning success rate is close to 99%. Furthermore, it exhibits significant time efficiency, with the average time to process a single image being less than 30 milliseconds. Moreover, even if some image boundaries are blurred, the center of the curve can still be accurately located.
Forecasting the Economic Burden of Cardiovascular Disease and Stroke in the United States Through 2050: A Presidential Advisory From the American Heart Association
Authors: Kazi Dhruv S. , Elkind Mitchell S.V. , Deutsch Anne , Dowd William N. , Heidenreich Paul , Khavjou Olga , Mark Daniel , Mussolino Michael E. , Ovbiagele Bruce , Patel Sonali S. , Poudel Remy , Weittenhiller Ben , Powell-Wiley Tiffany M. , Joynt Maddox Karen E. ,   on behalf of the American Heart Association
Published: June 2024

BACKGROUND:
Quantifying the economic burden of cardiovascular disease and stroke over the coming decades may inform policy, health system, and community-level interventions for prevention and treatment.

METHODS:
We used nationally representative health, economic, and demographic data to project health care costs attributable to key cardiovascular risk factors (hypertension, diabetes, hypercholesterolemia) and conditions (coronary heart disease, stroke, heart failure, atrial fibrillation) through 2050. The human capital approach was used to estimate productivity losses from morbidity and premature mortality due to cardiovascular conditions.

RESULTS:
One in 3 US adults received care for a cardiovascular risk factor or condition in 2020. Annual inflation-adjusted (2022 US dollars) health care costs of cardiovascular risk factors are projected to triple between 2020 and 2050, from $400 billion to $1344 billion. For cardiovascular conditions, annual health care costs are projected to almost quadruple, from $393 billion to $1490 billion, and productivity losses are projected to increase by 54%, from $234 billion to $361 billion. Stroke is projected to account for the largest absolute increase in costs. Large relative increases among the Asian American population (497%) and Hispanic American population (489%) reflect the projected increases in the size of these populations.

CONCLUSIONS:
The economic burden of cardiovascular risk factors and overt cardiovascular disease in the United States is projected to increase substantially in the coming decades. Development and deployment of cost-effective programs and policies to promote cardiovascular health are urgently needed to rein in costs and to equitably enhance population health.
Integrative taxonomy sheds light on species boundaries and relationships in the inbred haplodiploid ambrosia beetle genus Xyleborus
Authors: LeMay Gabriel A. , Johnson Andrew J. , Hulcr Jiri 
Published: June 2024

Abstract
This study investigated the relationship between genetic and morphological evidence in a species complex of haplodiploid, near-inbred ambrosia beetles, which are also vectors of an invasive tree pathogen: Xyleborus ferrugineus, Xyleborus bispinatus, and Xyleborus impressus. The unorthodox genetic system may blur species boundaries and challenges the applicability of standard species concepts. Haplo-diploid scolytine systematics is rife with contentious species delimitation, but species limits have rarely been tested empirically. To test the congruence of morphology, genetics, and geography in species identity, we analyzed 16 morphological characters and two DNA barcodes (COI mtDNA and CAD DNA sequences) in samples from across Florida. Morphological characters used to distinguish species corresponded with phylogenetic relationships in the majority of individuals. The maximum intraspecific divergence for the COI barcoding region was up to 19%, among the largest reported for animals. The phylogenetic and morphological analyses suggest that the three species are valid, but the astonishing intraspecific genetic diversity suggests either additional cryptic species or pseudogenes.
A new species of Anthurium (Araceae) from the canga vegetation of the Serra dos Carajás, Pará, Brazil
Authors: CAMELO MEL C. , COELHO MARCUS A.N. 
Published: June 2024

A new species of Anthurium section Pachyneurium, A. pedrovianae sp. nov. is described and occurs in canga vegetation of Serra dos Carajás, Pará State, Brazil. Information on conservation status, taxonomy, habitat, geographic distribution, and phenology is provided. Morphologically, the new species is similar to A.lindmanianum but differs from that species peduncle > 3 times the size of the petiole and a spadix < 6 cm long., stipe 6.0–11.0 cm long., purple at the base at the junction with the peduncle, berries are entirely purple, obovate, brown, warty seeds. Additionally, an identification key to distinguish the Pachyneurium species present in Pará is included.
Electroconvulsive therapy in a tertiary Australian mental health facility between 2009 and 2020
Authors: Martin Emily , Purushothaman Subramanian , Ballard Emma , Blake Julie A , Burke Kylie , Scott James G 
Published: June 2024

Background: Despite electroconvulsive therapy being one of the most effective treatments in psychiatry, few studies report trends in the provision of electroconvulsive therapy over time. This study aims to investigate the use of electroconvulsive therapy between 2009 and 2020 in an Australian public tertiary mental health facility, and to describe the electroconvulsive therapy patient population and change in courses of treatment. Methods: Routinely collected data for 677 patients who received 1669 electroconvulsive therapy courses of treatment at an Australian public tertiary mental health facility between 2009 and 2020 were examined. Results: The provision of acute electroconvulsive therapy was stable across the study period; however, the number of maintenance electroconvulsive therapy courses commenced declined over the study. Schizophrenia was the most common indication for index treatment (37.4%). The majority of patients (85.7%) received acute electroconvulsive therapy only. Voluntary provision of electroconvulsive therapy declined over the study period, reducing from 44.9% in 2009 to 16.3% in 2020. Conclusion: Over the study period, there was a significant reduction in the number of maintenance electroconvulsive therapy courses commenced, and a large increase in involuntary treatment. The provision of electroconvulsive therapy was more likely to occur in males with a diagnosis of schizophrenia. Further studies are needed to generate a greater understanding of the factors influencing the provision of electroconvulsive therapy within differing geographical, social and healthcare landscapes.
Cost-Effectiveness Analysis of Routine Outreach and Catch-Up Campaign Strategies for Measles, Mumps, and Rubella Vaccination in Chuuk, Federated States of Micronesia
Authors: Meghani Mehreen , Pike Jamison , Tippins Ashley , Leidner Andrew J. 
Published: June 2024

Objective: The Federated States of Micronesia (FSM) experience periodic outbreaks of vaccine-preventable diseases. Our objective was to assess the cost-effectiveness of routine outreach and catch-up campaign strategies for increasing vaccination coverage for the measles, mumps, and rubella (MMR) vaccine among children aged 12 months through 6 years in Chuuk, FSM. Methods: We used a cost-effectiveness model to assess 4 MMR vaccination strategies from a public health perspective: routine outreach conducted 4 times per year (quarterly routine outreach), routine outreach conducted 2 times per year (biannual routine outreach), catch-up campaigns conducted once per year (annual catch-up campaign), and catch-up campaigns conducted every 2 years with quarterly routine outreach in non–catch-up campaign years (status quo). We calculated costs and outcomes during a 5-year model horizon and summarized results as incremental cost-effectiveness ratios. We analyzed the following public health outcomes: additional protected person-month (PPM), doses administered and protected people (ie, a child who completed a 2-dose MMR series). We conducted 1-way sensitivity analyses to evaluate the stability of incremental cost-effectiveness ratios and to identify influential model inputs. Results: Among the 4 MMR vaccination strategies, quarterly routine outreach was the most effective and most expensive strategy, and biannual routine outreach was the least expensive and least effective strategy. Quarterly routine outreach (vs status quo) yielded approximately an additional 7001 PPMs and 132 vaccine doses administered, with incremental costs of about $4 per PPM, $193 per dose administered, and $123 per protected person. Conclusion: Routine outreach and catch-up campaign vaccination strategies can be important interventions to improve health in Chuuk, FSM. More frequent routine outreach events could improve MMR coverage and reduce the likelihood of outbreaks of vaccine-preventable diseases such as measles and mumps.
A Solidarity Mechanism to Allocate Stored Natural Gas in Crisis
Authors: Csercsik Dávid , Neumann Anne 
Published: June 2024

The interruption of natural gas flows via pipeline to Europe in 2022 has demonstrated that supply crises pose a threat. Although member states have demonstrated unity and solidarity, they could be better prepared to respond to such challenges. Currently, member states fill their natural gas storages independently. Cooperation and solidarity could deliver better outcomes by allowing the accumulated reserves of one or more members to be potentially redistributed to help others in need. In this paper we propose some possible guidelines for a potential solidarity framework based on voluntary participation. We argue that the proposed framework can mitigate the risk of supply-disruption of participants and formalize a game-theoretic model in order to capture the basic features of the problem. We demonstrate the operation of the approach using a simple example with risk-averse participants. JEL Classification: C51, C63, C72, L95, Q40