bluuebunny/crossref_metadata_2025_split huggingface dataset:
Autosomal recessive Leber hereditary optic neuropathy, a new neuro-ophthalmo-genetic paradigm
Authors: Lenaers Guy , Beaulieu Cléis , Charif Majida , Gerber Sylvie , Kaplan Josseline , Rozet Jean-Michel 
Published: April 2023

Abstract
Leber hereditary optic neuropathy (LHON) is a primary inherited neurodegenerative disorder of the optic nerve. It has been ascribed to variants in the mitochondrial genome, mainly the m.3460G&gt;A, m.11778G&gt;A and m.14484T&gt;C mutations in ND1, ND4 and ND6, respectively. Nonetheless, inconclusive molecular diagnosis is not uncommon. Recently, biallelic mutations in the NDUFS2, DNAJC30, MCAT and NDUFA12 nuclear genes have been identified in unresolved LHON cases, identifying an autosomal recessive LHON (arLHON, OMIM:619382). The clinical presentation of arLHON copies that of typical LHON due to mtDNA mutations (mtLHON), with an acute phase of sudden and severe vision loss, telangiectatic and tortuous vessels around the optic nerve and swelling of the retinal nerve fibre layer. This is followed by a chronic phase of retinal nerve fibre layer loss, but eventually affected individuals recover partial or full visual acuity. Idebenone treatment significantly improved vision recovery in DNAJC30-associated patients. As for mtLHON, arLHON predominantly affected male compared with female carriers. The discovery of arLHON cases breaks with the dogma of exclusive maternal inheritance. It defines a new neuro-ophthalmo-genetic paradigm, which should be considered in individuals manifesting a LHON phenotype but with an inconclusive molecular diagnosis. NDUFS2, DNAJC30, MCAT and NDUFA12 should be investigated in these individuals, knowing that other arLHON genes might exist.
Skin diseases in a 19th century English workhouse: analysis of the admission book for the Wakefield Workhouse Infirmary, 1826–1857
Authors: Labbouz Sofia , Manley Alice L , Gawkrodger David J 
Published: April 2023

AbstractInfectious diseases in the form of ‘typhus’ (74.2%) and ‘fevers’ (17.2%) were the commonest conditions accounting for entry to the Wakefield Workhouse Infirmary between 1826 and 1857, as recorded in the admissions book. Skin diseases were noted for 3.2% of admissions, principally scarlet fever (1.5%) and smallpox (0.8%). The mean age for primary dermatological admissions was 20 years (compared with 24 years for patients overall), with a mortality rate of 0.3%. The low number of smallpox cases may be the result of successful vaccination campaigns. The absence of admissions because of scabies (then known as ‘the itch’) might be as a result of exclusion of such patients from entry because of the known extreme infectivity of the condition. Workhouses played an important role in medical care in 19th century Britain but, in this example, skin diseases did not feature highly as causes of admission.
Development and Validation of Robust, Highly Sensitive and Stability-Indicating RP-HPLC Method for Estimation of Deferasirox and its Degradation Products
Authors: Shishodia Tarun , Grover Parul , Nagarajan K , Bhardwaj Monika , Chopra Bhawna 
Published: April 2023

Abstract
A rapid, simple and highly sensitive stability-indicating reverse-phase high-performance liquid chromatographic technique, coupled with a photodiode array detector, was developed and validated for the estimation of Deferasirox (DFS). The chromatographic separation was achieved using a C-18 (250 × 4.6 mm, 5 μm) stationary phase and a mobile phase composed of 0.1% orthophosphoric acid and acetonitrile at a flow rate of 1 mL/min. The detection was carried out at a wavelength of 245 nm with a constant injection volume of 10 μL throughout the analysis. With an R2 value of 0.9996, the calibration curve was determined to be linear over an appropriate concentration range of 50–500 ng/mL. According to the International Conference on Harmonization (ICH) Q1 (R2) guideline, DFS was evaluated under stress conditions that included hydrolytic (acid, alkali and neutral), oxidative and thermal degradation. The findings demonstrated that significant degradation was observed in acidic degradation conditions, whereas drug substance was found to be stable when exposed to neutral, basic, oxidative and thermal degradation. The developed method was validated as per ICH guidelines. The developed method was employed successfully to estimate the amount of DFS in bulk and pharmaceutical formulation.
The Contagion of Foreign Policy Convergence: Spatiotemporal Dynamics of Chinese Leadership Visits, 1978–2014
Authors: Chen Chong 
Published: April 2023

Abstract
Previous research on the sources of foreign policy convergence has focused exclusively on changes at either the dyadic level, between sender and receiver countries, or monadic level of these states. Although such approaches are helpful to understand how states affect foreign policy change in other countries, they generally overlook the third source of foreign policy convergence, that is, the indirect impact of significant events in neighbouring countries. I investigate whether and how leadership visits—a major diplomatic phenomenon—affect foreign policy convergence within and beyond host countries. Specifically, I argue that leadership visits directly facilitate foreign policy convergence in host countries and indirectly produce favourable diffusion effects in their neighbourhood. I develop an original dataset that tracks the visits of high-level officials between China and its foreign counterparts from 1978 to 2014. The results from spatial panel models support my proposed direct and indirect effects whereby Chinese leadership visits are positively associated with foreign policy alignments with China in both host countries and their neighbours.
Cardiomyopathy in chronic kidney disease: clinical features, biomarkers and the contribution of murine models in understanding pathophysiology
Authors: Junho Carolina Victoria Cruz , Frisch Janina , Soppert Josefin , Wollenhaupt Julia , Noels Heidi 
Published: April 2023

ABSTRACT
The cardiorenal syndrome (CRS) is described as a multi-organ disease encompassing bidirectionally heart and kidney. In CRS type 4, chronic kidney disease (CKD) leads to cardiac injury. Different pathological mechanisms have been identified to contribute to the establishment of CKD-induced cardiomyopathy, including a neurohormonal dysregulation, disturbances in the mineral metabolism and an accumulation of uremic toxins, playing an important role in the development of inflammation and oxidative stress. Combined, this leads to cardiac dysfunction and cardiac pathophysiological and morphological changes, like left ventricular hypertrophy, myocardial fibrosis and cardiac electrical changes. Given that around 80% of dialysis patients suffer from uremic cardiomyopathy, the study of cardiac outcomes in CKD is clinically highly relevant. The present review summarizes clinical features and biomarkers of CKD-induced cardiomyopathy and discusses underlying pathophysiological mechanisms recently uncovered in the literature. It discloses how animal models have contributed to the understanding of pathological kidney–heart crosstalk, but also provides insights into the variability in observed effects of CKD on the heart in different CKD mouse models, covering both “single hit” as well as “multifactorial hit” models. Overall, this review aims to support research progress in the field of CKD-induced cardiomyopathy.
Results of the Eighth Scientific Workshop of ECCO: Prevention and Treatment of Postoperative Recurrence in Patients With Crohn’s Disease Undergoing an Ileocolonic Resection With Ileocolonic Anastomosis
Authors: Ferrante Marc , Pouillon Lieven , Mañosa Míriam , Savarino Edoardo , Allez Matthieu , Kapizioni Christina , Arebi Naila , Carvello Michele , Myrelid Pär , De Vries Annemarie C ,   8th Scientific Workshop of the European Crohns and Colitis Organisation, Dragoni Gabriele , Allocca Mariangela , Noor Nurulamin M , Bislenghi Gabriele , Hammoudi Nassim , Verstockt Bram , Brown Steven , Oliveira Cunha Melissa , Bemelman Willem , Pellino Gianluca , Kotze Paulo Gustavo , Rivière Pauline , Panis Yves , Domènech Eugeni 
Published: April 2023

Abstract
Despite the introduction of biological therapies, an ileocolonic resection is often required in patients with Crohn’s disease [CD]. Unfortunately, surgery is not curative, as many patients will develop postoperative recurrence [POR], eventually leading to further bowel damage and a decreased quality of life. The 8th Scientific Workshop of ECCO reviewed the available scientific data on both prevention and treatment of POR in patients with CD undergoing an ileocolonic resection, dealing with conventional and biological therapies, as well as non-medical interventions, including endoscopic and surgical approaches in case of POR. Based on the available data, an algorithm for the postoperative management in daily clinical practice was developed.
Cardiogenic shock in a woman with a mitochondrial cardiomyopathy: a case report
Authors: Girard Andrew , Heindl Brittain , Clarkson Stephen , Litovsky Silvio , Ubogu Eroboghene , Schwartzlow Coreen , Tallaj Jose 
Published: April 2023

Abstract

Background
Mitochondrial cardiomyopathy (MCM) is an alteration in cardiac structure and function caused by gene mutations or deletions affecting components of the mitochondrial respiratory chain. We report a case of MCM presenting as cardiogenic shock, ultimately requiring left ventricular assist device (LVAD) placement.

Case summary
A 35-year-old woman with chronic weakness and non-ischaemic cardiomyopathy, on home dobutamine, was referred to our institution for heart transplantation evaluation. She was admitted to the hospital for suspected cardiogenic shock after laboratory tests revealed a lactate level of 5.4 mmol/L (ref: 0.5–2.2 mmol/L). Her hospital course was complicated by persistently undulating lactate levels (0.2–8.6 mmol/L) that increased with exertion and did not correlate with mixed venous oxygen saturation measurements obtained from a pulmonary artery catheter. Electrodiagnostic testing demonstrated a proximal appendicular and axial myopathy. A left deltoid muscle biopsy was performed that demonstrated evidence of a mitochondrial disease on light and electron microscopy. Muscle genetic testing revealed two large-scale mitochondrial deoxyribonucleic acid sequence deletions, confirming the diagnosis of MCM. She subsequently underwent LVAD placement, which was complicated by significant right ventricular failure requiring early mechanical support. She was ultimately discharged home with chronic inotropic support.

Discussion
Mitochondrial cardiomyopathy in adults is a diagnostic and therapeutic challenge. Prompt diagnosis should be made in patients with unknown causes of heart failure via skeletal muscle histopathology guided by electrodiagnostic studies, and targeted genetic testing in affected tissue. Outcomes in adult MCM patients who receive an LVAD are unknown and warrant further investigation.
Sudden cardiac arrest in a patient with malignant mitral valve prolapse with CACNB2 gene mutation: a simple coincidence or coexistence?—a case report
Authors: Parthiban Nirmalatiban , Sani Huzairi 
Published: April 2023

Abstract

Background
Despite recent advances in cardiology, sudden cardiac death remains to be a significant challenge, and the precise cause for a large proportion of sudden cardiac arrests remains unclear.

Case summary
A 48-year-old fit and healthy medical personnel with no previous medical illness suffered from ventricular fibrillation at his workplace and was successfully resuscitated. Although the basal electrocardiogram did not show a Brugada pattern, we identified mutations in the CACNB2 genes (Chr10: 18150879 and Chr10: 18539538 variants), which are pathogenic variants linked to the Brugada syndrome. A transthoracic echocardiogram and cardiac magnetic resonance revealed mitral valve prolapse (MVP) with characteristics of Barlow’s disease, as well as malignant MVP features such as the presence of bileaflet prolapse, mitral annular disjunction, and inferior and inferolateral left ventricular wall fibrosis.

Discussion
To the best of our knowledge, this is the first case report on sudden cardiac arrest in a patient with malignant MVP with a CACNB2 gene mutation. This study highlights the merit for further research to establish standardized criteria for the diagnosis of malignant MVP, for the primary prevention of sudden cardiac death. Cardiac MR should also be part of the diagnostic evaluation of MVP to allow for the early detection of arrhythmogenic features, especially left ventricular fibrosis. We also suggest that the utility of genetic testing should be complementary to the current diagnostic tools for unexplained cardiac arrest and patients with MVP. This would help to better understand the genetic basis between these two conditions for better risk stratification and early cardiac intervention.
ESOL classes as trauma-sensitive physical spaces
Authors: Dunn Orsolya 
Published: April 2023

Abstract
I have worked in ESOL for the best part of 15 years now in the west of Scotland in a number of educational contexts engaging learners with ESOL needs from a variety of backgrounds. I have often thought of working in ESOL as akin to completing a 1000-piece jigsaw; having to work with an infinite number of variables, fitting together all the parts, coping with the continuous stream of missing pieces, and needing the emotional strength to withstand the occasional knocks to the table.
Air pollution, cardiovascular disease, and urban greening: an ecological blueprint
Authors: Mannucci Pier Mannuccio 
Published: April 2023

Abstract
A number of studies and systematic reviews indicate that exposure to greenness reduces of all-cause, non accidental mortality, particularly from cardiopulmonary and cancer causes. There is also some evidence that green space residence may be associated with improved pregnancy and birth outcomes, and with better school performances in children. Furthermore, because at least one third of the premature deaths are globally attributable to exposure to air pollution due household agents, particularly in fragile populations living in low-income countries (i.e., children, older and deprived people, pregnant women), that houseplants are an effective and economic mean for cleaning indoor air and thus reducing volatile organic compounds such as formaldehyde, benzene, toluene and others. On the whole more prospective studies are needed to further elucidate the mechanisms linking air pollution, greenness and health outcomes, although the multiple and interacting mechanisms depicted in this article are all biologically plausible.
Evolution of relative brain size in dogs—no effects of selection for breed function, litter size, or longevity
Authors: Garamszegi László Zsolt , Kubinyi Enikő , Czeibert Kálmán , Nagy Gergely , Csörgő Tibor , Kolm Niclas 
Published: April 2023

Abstract
Domestication is a well-known example of the relaxation of environmentally based cognitive selection that leads to reductions in brain size. However, little is known about how brain size evolves after domestication and whether subsequent directional/artificial selection can compensate for domestication effects. The first animal to be domesticated was the dog, and recent directional breeding generated the extensive phenotypic variation among breeds we observe today. Here we use a novel endocranial dataset based on high-resolution CT scans to estimate brain size in 159 dog breeds and analyze how relative brain size varies across breeds in relation to functional selection, longevity, and litter size. In our analyses, we controlled for potential confounding factors such as common descent, gene flow, body size, and skull shape. We found that dogs have consistently smaller relative brain size than wolves supporting the domestication effect, but breeds that are more distantly related to wolves have relatively larger brains than breeds that are more closely related to wolves. Neither functional category, skull shape, longevity, nor litter size was associated with relative brain size, which implies that selection for performing specific tasks, morphology, and life history does not necessarily influence brain size evolution in domesticated species.
Recent advances and perspectives in nucleotide second messenger signaling in bacteria
Authors: Hengge Regine , Pruteanu Mihaela , Stülke Jörg , Tschowri Natalia , Turgay Kürşad 
Published: April 2023

Abstract
Nucleotide second messengers act as intracellular ‘secondary’ signals that represent environmental or cellular cues, i.e. the ‘primary’ signals. As such, they are linking sensory input with regulatory output in all living cells. The amazing physiological versatility, the mechanistic diversity of second messenger synthesis, degradation, and action as well as the high level of integration of second messenger pathways and networks in prokaryotes has only recently become apparent. In these networks, specific second messengers play conserved general roles. Thus, (p)ppGpp coordinates growth and survival in response to nutrient availability and various stresses, while c-di-GMP is the nucleotide signaling molecule to orchestrate bacterial adhesion and multicellularity. c-di-AMP links osmotic balance and metabolism and that it does so even in Archaea may suggest a very early evolutionary origin of second messenger signaling. Many of the enzymes that make or break second messengers show complex sensory domain architectures, which allow multisignal integration. The multiplicity of c-di-GMP-related enzymes in many species has led to the discovery that bacterial cells are even able to use the same freely diffusible second messenger in local signaling pathways that can act in parallel without cross-talking. On the other hand, signaling pathways operating with different nucleotides can intersect in elaborate signaling networks. Apart from the small number of common signaling nucleotides that bacteria use for controlling their cellular “business,” diverse nucleotides were recently found to play very specific roles in phage defense. Furthermore, these systems represent the phylogenetic ancestors of cyclic nucleotide-activated immune signaling in eukaryotes.
Simone Weil and George Herbert on Love through Poetry
Authors: Roberts Hugh 
Published: April 2023

Abstract
In two letters written shortly before she sailed from Marseille in May 1942, Simone Weil reveals the profound impact George Herbert’s ‘Love’ (now commonly titled ‘Love (III)’) had on her. When reciting the poem to herself during intense headaches, she had a religious experience which involved Christ descending and taking possession of her. This article offers a comparative case study of how focused attention on poetry can become a form of prayer leading to religious experience. It offers a close reading of ‘Love’ through the lens of Weil’s philosophical and spiritual writings from the last year of her life. For Weil, the beauty of poetry is analogous to the beauty of the world and hence can indicate God’s will or the ineffable order of the universe.
Current management of gastro-oesophageal reflux disease—treatment costs, safety profile, and effectiveness: a narrative review
Authors: Lata Tahmina , Trautman Jodie , Townend Philip , Wilson Robert B 
Published: April 2023

AbstractBackgroundThe purpose of this study was to review the current management of gastro-oesophageal reflux disease (GORD), including treatment costs, safety profile and effectiveness.MethodsA literature review was performed of randomized-controlled trials, systematic reviews, Cochrane reports and National/Societal guidelines of the medical, endoscopic and surgical management of GORD. Proton pump inhibitor (PPI) prescribing patterns and expenditure were reviewed in different countries, including Australia, Canada, New Zealand, UK and USA.ResultsProton pump inhibitors (PPIs) are primarily indicated for control of GORD, Helicobacter pylori eradication (combined with antibiotics), preventing NSAID-induced gastrointestinal bleeding and treating peptic ulcer disease. There is widespread overprescribing of PPIs in Western and Eastern nations in terms of indication and duration, with substantial expense for national health providers. Despite a favourable short-term safety profile, there are observational associations of adverse effects with long-term PPIs. These include nutrient malabsorption, enteric infections and cardiovascular events. The prevalence of PPI use makes their long-term safety profile clinically relevant. Cost-benefit, symptom control and quality-of-life outcomes favour laparoscopic fundoplication rather than chronic PPI treatment. Laparoscopic fundoplication in long-term management of PPI-responsive GORD is supported by SAGES, NICE and ACG, and PPI-refractory GORD by AGA and SAGES guidelines. The importance of establishing a definitive diagnosis prior to invasive management is emphasized, especially in PPI-refractory heartburn.ConclusionsWe examined evidence-based guidelines for PPI prescribing and deprescribing in primary care and hospital settings and the need for PPI stewardship and education of health professionals. This narrative review presents the advantages and disadvantages of surgical, endoscopic and medical management of GORD, which may assist in shared decision making and treatment choice in individual patients.This paper was presented (GS020) at the 88th RACS Annual Scientific Conference, 6-10 May, 2019.
Genome Assembly and Population Sequencing Reveal Three Populations and Signatures of Insecticide Resistance ofTuta absolutain Latin America
Authors: Lewald Kyle M , Tabuloc Christine A , Godfrey Kristine E , Arnó Judit , Perini Clérison R , Guedes Jerson C , Chiu Joanna C 
Published: April 2023

AbstractTuta absoluta is one of the largest threats to tomato agriculture worldwide. Native to South America, it has rapidly spread throughout Europe, Africa, and Asia over the past two decades. To understand how T. absoluta has been so successful and to improve containment strategies, high-quality genomic resources and an understanding of population history are critical. Here, we describe a highly contiguous annotated genome assembly, as well as a genome-wide population analysis of samples collected across Latin America. The new genome assembly has an L50 of 17 with only 132 contigs. Based on hundreds of thousands of single nucleotide polymorphisms, we detect three major population clusters in Latin America with some evidence of admixture along the Andes Mountain range. Based on coalescent simulations, we find these clusters diverged from each other tens of thousands of generations ago prior to domestication of tomatoes. We further identify several genomic loci with patterns consistent with positive selection and that are related to insecticide resistance, immunity, and metabolism. This data will further future research toward genetic control strategies and inform future containment policies.