bluuebunny/crossref_metadata_2025 huggingface dataset:
Primary Prevention and Early Detection of Hereditary Breast Cancer
Authors: Speiser Dorothee , Bick Ulrich
Published: August 2023

Background: Primary prevention and early detection of hereditary breast cancer has been one of the main topics of breast cancer research in recent decades. The knowledge of risk factors for breast cancer has been increasing continuously just like the recommendations for risk management. Pathogenic germline variants (mutations, class 4/5) of risk genes are significant susceptibility factors in healthy individuals. At the same time, germline mutations serve as biomarkers for targeted therapy in breast cancer treatment. Therefore, management of healthy mutation carriers to enable primary prevention is in the focus as much as the consideration of pathogenic germline variants for therapeutic decisions. Since 1996, the German Consortium has provided quality-assured care for counselees and patients with familial burden of breast and ovarian cancer. Summary: Currently, there are 23 university centers with over 100 cooperating DKG-certified breast and gynecological cancer centers. These centers provide standardized, evidence-based, and knowledge-generating care, which includes aspects of primary as well as secondary and tertiary prevention. An important aspect of quality assurance and development was the inclusion of the HBOC centers in the certification system of the German Cancer Society (GCS). Since 2020, the centers have been regularly audited and their quality standards continuously reviewed according to quality indicators adapted to the current state of research. The standard of care at GC-HBOC’ centers involves the evaluation as well as evolution of various aspects of care like inclusion criteria, identification of new risk genes, management of variants of unknown significance (class 3), evaluation of risk-reducing options, intensified surveillance, and communication of risks. Among these, the possibility of intensified surveillance in the GC-HBOC for early detection of breast cancer is an important component of individual risk management for many counselees. As has been shown in recent years, in carriers of pathogenic variants in high-risk genes, this approach enables the detection of breast cancer at very early, more favorable stages although no reduction of mortality has been demonstrated yet. The key component of the intensified surveillance is annual contrast-enhanced breast MRI, supplemented by up to biannual breast ultrasound and mammography usually starting at age 40. Key Messages: Apart from early detection, the central goal of care is the prevention of cancer. By utilizing individualized risk calculation, the optimal timeframe for risk-reducing surgery can be estimated, and counselees can be supported in reaching preference-sensitive decisions.
Baleias e Golfinhos no Litoral Paulista: Estórias que contam uma bela história
Authors:   Universidade de São Paulo. Instituto Oceanográfico, Santos Marcos César de Oliveira
Published: August 2023

Este ebook é mais um produto de extensão cultural do Laboratório de Biologia da Conservação de Mamíferos Aquáticos do Instituto Oceanográfico da Universidade de São Paulo. É uma produção independente que atende aos anseios da Década da Ciência Oceânica para o Desenvolvimento Sustentável (2021 – 2030), declarada pela Organização das Nações Unidas, cujas perspectivas visam à mobilização de recursos e inovação tecnológica em ciência oceânica para entregar à sociedade um oceano limpo, saudável e resiliente, previsível, seguro, produtivo e explotado sustentavelmente, com acesso aberto aos dados, informações e tecnologias, até porque há pouca literatura acessível sobre baleias e golfinhos disponível em língua portuguesa. Basicamente, este livro conta a história sobre a presença de cetáceos na costa do Estado de São Paulo por meio de estórias que, efetivamente, começaram a ser cientificamente contadas a partir de 1938.
Impactos Antrópicos
Authors:   Universidade de São Paulo. Instituto Oceanográfico, Panho João Pedro Alonso , Todam Agatha ,   Universidade de São Paulo. Instituto Oceanográfico, Llonch Brenda Gulfier Sanchez ,   Universidade de São Paulo. Instituto Oceanográfico, Silva Giovanna Reis ,   Universidade de São Paulo. Instituto Oceanográfico, Brito Maithê Kapor de ,   Universidade de São Paulo. Instituto Oceanográfico, Moreira Priscila Saviolo ,   Universidade de São Paulo. Instituto Oceanográfico, Signori Camila Negrão ,   Universidade de São Paulo. Instituto Oceanográfico
Published: August 2023

Este livro é um produto do projeto EAMar, produzido no ano de 2021 por alunos de graduação do curso de Bacharelado em Oceanografia, do Instituto Oceanográfico da Universidade de São Paulo e tem, por finalidade, oferecer material didático como suporte para professores e alunos participantes do projeto EAMar. É o terceiro livro da série "Educação Ambiental Marinha", e o conteúdo, aqui presente, traz uma introdução ao estudo do oceano e à ciência oceanográfica e tem, como principal objetivo, disseminar os princípios da cultura oceânica, contribuindo, dessa forma, com a Década do Oceano.
Annie Ernaux e a educação: ficção, autobiografia e compreensão sociológica
Authors: Catani Denice Barbara
Published: August 2023

Mediante a leitura de dois livros de Annie Ernaux, o texto discute problemas relativos à natureza do conhecimento do social presente na literatura. Reflete sobre os saberes da literatura e da autobiografia e sobre partilhas possíveis entre a educação, a literatura e as ciências humanas. Nessas obras, a autora retoma histórias de sua formação: aprendizado formal e informal e suas vicissitudes na escola e na família. A progressiva distância que se impõe entre ela e seus familiares, conforme avança sua educação formal e se afasta da condição de origem. A reconstrução do tempo vivido questiona as relações entre o individual e o coletivo e promove reflexões sobre sentimentos, emoções, trabalho, projetos de vida. As obras circulam impregnadas por interpretações e rememorações que se produzem nos cruzamentos entre sociologia e literatura, ancorando-se no pensamento de Pierre Bourdieu.
A influência da medicina oriental na Europa moderna: o caso do bálsamo de Gileade
Authors: Soares Marina Juliana de Oliveira
Published: August 2023

Este artigo pretende analisar a influência de uma substância de origem oriental na medicina europeia moderna. O bálsamo de Gileade ou bálsamo de Meca, como ficou conhecido, foi descrito por autores leigos e médicos, e demonstra as trocas que ocorriam entre cristãos e muçulmanos no âmbito da medicina. Atrelado a tal discussão, busca-se verificar se o fato de o bálsamo ser cultivado em regiões de domínio islâmico durante esse período gerava críticas por parte dos europeus.
Hemodynamic Predictors of Outcome Following Alcohol Septal Ablation for Hypertrophic Obstructive Cardiomyopathy
Authors: Alabdaljabar Mohamad S. , Cendrowski Emily E. , Nishimura Rick A. , Miranda William R. , Geske Jeffrey B. , Rihal Charanjit S. , Eleid Mackram F.
Published: August 2023

BACKGROUND:

Alcohol septal ablation (ASA) is a minimally invasive treatment for drug-refractory obstructive hypertrophic cardiomyopathy. Detailed assessment of pressure changes and predictors of mortality and procedure success are not well defined.

METHODS:

This is a single-center study evaluating pressure changes and predictors of mortality and procedure success in transseptal ASA. Survival analysis and predictors of mortality were assessed using the Kaplan-Meier analysis and Cox regression, respectively.

RESULTS:

A total of 156 patients were included (mean age, 67.3 years; 46.8% women). Left atrial (LA) pressure and left ventricular outflow tract (LVOT) gradient decreased, whereas aortic pulse pressure (PP) increased post-ASA. Patients with lower baseline mean LA pressure (82% (gradient change median), and PP increase >19% (PP change median) had superior survival. On Cox univariable regression, baseline mean LA pressure >median (19 mm Hg; hazard ratio [HR], 2.09 [95% CI, 1.05–4.18];
P
=0.036), residual LVOT gradient (HR, 1.02 [95% CI, 1.01–1.03];
P
=0.003), and LVOT gradient percent reduction <median (82%; HR, 2.92 [95% CI, 1.46–5.83];
P
=0.002) were predictors of mortality. When adjusting for age and sex, baseline LA v wave >median (28 mm Hg; HR, 2.36 [95% CI, 1.17–4.76];
P
=0.016), baseline mean LA pressure >median (19 mm Hg; HR, 2.70 [95% CI, 1.33–5.50];
P
=0.006), percentage reduction in gradient <median (82%; HR, 2.74 [CI, 1.37–5.50];
P
=0.005), and percentage increase in PP <median (19.3%; HR, 2.09 [CI, 1.05–4.16];
P
=0.035) predicted survival free of all-cause mortality.

CONCLUSIONS:

ASA is associated with an acute decrease in the LVOT gradient and LA pressures and increase in aortic PP. Mean LA pressure, percentage decrease in LVOT gradient, and increase in PP are strong predictors of survival free of all-cause mortality following ASA and are important variables for procedural guidance.
Comment on the 2023 Guidelines for the Management of Patients With Aneurysmal Subarachnoid Hemorrhage
Authors: Spears William E. , Greer David M. , Nguyen Thanh N.
Published: August 2023

Aneurysmal subarachnoid hemorrhage can be a devastating disease, with an in-hospital mortality rate of up to 20%. The American Heart Association/American Stroke Association 2023 Aneurysmal Subarachnoid Hemorrhage Guidelines provide a comprehensive update to the 2012 Guidelines based on a systematic review of the intervening evidence. The guidelines are broad in scope, covering prehospital care, aneurysm treatment modality, medical complications, detection and treatment of delayed cerebral ischemia, and recovery. Here, we comment on salient aspects of aneurysmal subarachnoid hemorrhage care, compare these guidelines with the 2023 Neurocritical Care aneurysmal subarachnoid hemorrhage guidelines, and review relevant updates.
Evil Powers, Exodus, and Future Deliverance
Authors: Kister Menahem
Published: August 2023

In the present article, I argue that a passage from the Damascus Document (CD 4:12–16 + 5:15–19) and an opaque saying attributed to Jesus (Luke 11:20) mutually illuminate each other. The starting point of both is the conception that a conflict between God and the evil power(s) took place before the Exodus. An analogy is drawn between this period and the present liminal period considered as the beginning of the eschatological period prior to the eschaton. The expectations for healing and resurrection in the eschaton in 4Q521 2 ii 8, 11–12 shed light on Matt 11:3 // Luke 7:19. When viewed through the lens of the conception that the eschatological period has already commenced, these expectations were transformed to Jesus’s activity in the present.
Characterization of the complete mitochondrial genome of Aristaeopsis edwardsiana (Decapoda, Dendrobranchiata) and the phylogenetic implications for Aristeidae
Authors: Liang Xinjie , Sun Yuman , Ye Yingying , Li Jiji
Published: August 2023

We analysed the mitochondrial genome of Aristaeopsis edwardsiana (Johnson, 1868) to understand its origin and evolution. Our study uncovered new insights into its phylogenetic relationships and evolutionary history. The mitogenome of A. edwardsiana is 15 913 bp, contains 37 genes, including 13 protein-coding genes (PCGs), 2 ribosomal RNA genes (rRNA) and 22 transfer RNA genes (tRNA). The AT content is 64.98%, with negative AT and GC skews. Our analysis showed that the PCGs of A. edwardsiana and related Aristeidae species underwent purifying selection. The tRNA genes exhibited a typical structure, except trnC and trnS1. The gene order was conserved compared to ancestral decapods. Using species of Dendrobranchiata, we constructed a phylogenetic tree, revealing the relationship of A. edwardsiana within the family Aristeidae. These findings improve our understanding of Decapoda classification and Aristeidae’s evolutionary position, facilitating further phylogenetic investigations. This study may serve as a valuable reference for future research on species of Aristeidae.
What Does a Kohen Have to Do with the Protocols of the Ashkenazic Community of Amsterdam? A Conflict between Community Sanctity and the Righteousness of the Ancients
Authors: Yedidya Asaf
Published: August 2023

This article deals with an incident in the Ashkenazic community of Amsterdam in 1772 that was documented in the protocols of the community. A member of the congregation confessed to the rabbi after the death of her husband, a kohen, that she was in fact a convert. The rabbi informed her son that as the son of a kohen married to a convert he was defined as a ḥalal (disqualified), and thereby lost his status as a kohen. A few weeks later, the rabbi and his bet din (Jewish tribunal) were required to reconsider the halakhic significance of the mother’s testimony about herself and the status of her children and came to the opposite conclusion, that the mother was not a convert and her son was indeed a kohen. The article discusses the possible reasons for re-examining a halakhic question that had already been decided and for reversing the decision, while clarifying the founding ethos of the community, its style of conduct, and the nature of its records. Finally I speculate about what lay behind the mother’s admission.
Reassessing the causal connection between satDNA dynamics and chromosomal evolution in Ctenomys (Rodentia, Ctenomyidae): Unveiling the overlooked importance of the Y chromosome
Authors: Caraballo Diego A.
Published: August 2023

Satellite dna s (satDNA) have long been recognized as a major driving force in karyotypic repatterning, owing to their ability to recombine between non-homologous chromosomes. A quite extensively studied model is the Repetitive PvuII Ctenomys Sequence (rpcs), the main component of constitutive heterochromatin in rodents of the genus Ctenomys (Rodentia, Ctenomyidae). At the genus level, fluctuations in rpcs copy number have been previously associated with karyotypic instability. However, when a microevolutionary approach was assayed in the most karyotypically variable lineage of the genus, the vast population-level copy number variation precluded any possibility of analyzing it in a phylogenetic framework. The existence of sex-related differences as a source of variability was not considered until later, when chromosomal banding suggested that the Y chromosome may be a significant reservoir of rpcs. This study aimed to investigate the bias associated with the presence of the Y chromosome in rpcs copy number variation in the Corrientes group of Ctenomys. The results revealed that the Y chromosome harbors almost twice the amount of rpcs compared to the rest of the chromosome complement, explaining the high levels of intrapopulation variation. The evolution of rpcs copy number in males and females showed independent patterns, attributable to the presence/absence of the Y chromosome. The correlation between rpcs dynamics and diploid number fluctuations was also investigated, concluding that some karyotypic repatterning events could be explained by satDNA amplification/deletion, but not all of them. This study highlights the importance of considering differences resulting from the differential accumulation of satDNA in the heterogametic chromosome.
Human Rights Due Diligence and the Climate Change Dimension: Implications for Investor Responsibility in International Investment Law
Authors: Cheong Sek Lun
Published: August 2023

The concept of human rights due diligence (hrdd) of businesses under the United Nations Guiding Principles on Business and Human Rights (ungps) is an important milestone in the standards of business conduct. The responsibility of businesses to conduct hrdd is focused on the human rights risks to, or impacts on, communities from business activities. Recent developments highlight the increasing convergence and integration between the ungps’ framework of hrdd and climate change. This synergy contrasts starkly with the state of the international investment regime, which has traditionally been characterized as operating in isolation from other fields in international law, notably human rights and environmental law. Given that international investment law is now increasingly featuring the human rights responsibility of foreign investors – in particular with respect to the ungps’ framework of hrdd or its public-interest aspect – the intersection of human rights and international investment law serves as a potential pathway to advancing investor responsibility for the climate-related harm that investment activities may cause.
What If Leader Was (Not) One of Us?
Authors: Viviani Lorenzo
Published: August 2023

By differentiating the dynamics of leader democracy from those of populist leadership, this paper provides a political-sociological theoretical framework that can identify the ideal-types of the personalisation of leadership in advanced democracies. In the first part, the article develops the main features of leader democracy from the perspective of democratic elitism, highlighting how process does not entail a partyless democracy. The second part focuses on the disintermediation process in populist leadership, which is presented as a particular form of plebiscitary politics. The proposed theoretical framework diverges from the stream of the literature on populism, which tends to equate populist leadership with charismatic leadership. Furthermore, the article points out the substantial differences between the personalisation of the populist and charismatic leadership styles by comparing the key issues of populism and charisma in the processes of personalisation thus proposing an interpretative framework to resolve the contradictions among the dominant interpretative frameworks.
L’Invitée de Simone de Beauvoir et Ravages de Violette Leduc
Authors: Brioude Mireille
Published: August 2023

L’étude comparée de L’Invitée de Simone de Beauvoir, publié en 1943, et de Ravages de Violette Leduc, publié en 1955, met en lumière une divergence de conception de la création romanesque entre les deux écrivaines. La place prépondérante du dialogue dans les deux œuvres érige ce dernier en concurrent d’une narration à la première personne, ce qui introduit dans les romans un double plan discursif, interrogeant par là-même le mode d’écriture des deux projets romanesques. L’article souligne en particulier le statut inconscient d’une structure discursive genrée faisant apparaître une « parole féminine » fragile ou, au contraire, puissante.
Gin, Tonic, and Other Delicious Combinations
Authors: Dold Kayla Morgan
Published: August 2023

In her 1927 diary, Simone de Beauvoir documents her intent to mix literary style with philosophical content. However, in Anglophone research environments, her works are formally classified as either literature or philosophy. This article questions the legitimacy of this classification by arguing that The Ethics of Ambiguity’s stylistic use of first-person plural narration, metaphor, conversational style, and parable help us understand ambiguity and freedom as necessarily embodied by invoking experiences of both phenomena.
The Lightscape as Literary Motif for Inequality in Les Belles Images, The Mandarins, and America Day by Day
Authors: Bal Amber
Published: August 2023

This article examines Simone de Beauvoir’s use of a literary motif to convey her philosophical position on inequality in different geographical locations. The “lightscape,” an evocation of place that foregrounds light’s obfuscation of gritty reality, is considered across three works: Les Belles Images, The Mandarins, and America Day by Day. In these texts, the lightscape’s bifurcated presentation of a given locale reflects how inequality hides in plain sight, and divides the rich from the poor, respectively aligning them with the beautiful and the abject.
Je suis une femme, de là je pense
Authors: Bauer Nancy , Walsh Francis
Published: August 2023

Comment lire la revendication de Simone de Beauvoir, dans Le Deuxième Sexe, d’être représentative du concept de « femme » ? Déplaçant la question cartésienne « Qu’est-ce qu’un homme ? », répondant « Je suis » à la question « Qu’est-ce qu’une femme ? », Beauvoir fait du concept de « femme » le fondement d’une dialectique du quotidien et du métaphysique, en plus de s’arroger une autorité philosophique neuve. Dès lors, lire Le Deuxième Sexe en parallèle des Méditations de Descartes, c’est lire Beauvoir découvrant un cogito corporel.
A taxonomic review of the Australian genus Eurylychnus Bates (Coleoptera: Carabidae: Broscini)
Authors: LAY STUART
Published: August 2023

The Australian genus Eurylychnus Bates, 1891 is reviewed and its eight species are redescribed. A key to species is provided together with illustrations of their habitus and male genitalia. Lectotypes are designated for Eurylychnus cylindricus Sloane, 1916 and Eurylychnus kershawi Sloane, 1915.
Study on the genus Parastrangalis Ganglbauer, 1889 (Coleoptera, Cerambycidae, Lepturinae) from Shennongjia, China
Authors: GU JIAYI , WANG PING , XIE GUANGLIN , WANG WENKAI
Published: August 2023

Seven species of the genus Parastrangalis Ganglbauer, 1889 are recorded from Shennongjia Forestry District (China). Among them, a new species, P. shennongjiaensis sp. nov., is described and illustrated, and P. holzschuhi Chou & N. Ohbayashi, 2014 is reported for the first time from mainland China, P. houhensis N. Ohbayashi & Wang, 2004 and P. palpalis Holzschuh, 1991 are newly recorded from Shennongjia Forestry District, Hubei.
The first Triassic beaded lacewing (Neuroptera: Berothidae) from Central Asia, with redescription of Mesoberotha superbа (Riek, 1955)
Authors: KHRAMOV ALEXANDER V.
Published: August 2023

Ferganoberotha minutissima gen. et sp. nov. (Berothidae) is described from the Middle-Late Triassic Madygen Formation (Kyrgyzstan) based on an isolated forewing. This is the first species of Triassic Berothidae to be reported from Eurasia. Mesoberotha superbа (Riek, 1955), the type genus of Mesoberothidae from the Late Triassic of Australia, is redescribed and transferred to Berothidae, thereby making the former family a junior synonym of the latter.
An updated Catalogue of Cossoidea (Lepidoptera) from India
Authors: AHMAD JALIL , JOSHI RAHUL , SINGH NAVNEET
Published: August 2023

We catalogue 165 species in 81 genera representing six families of Cossoidea present in India. Sesiidae is the most dominant family in India, consisting 89 species in 38 genera, followed by Cossidae with 47 species in 28 genera, Brachodidae with 13 species in six genera, Metarbelidae with 12 species in seven genera, Ratardidae with three species in single genus and the Dudgeoneidae is known by single species. A comprehensive data on the species diversity of all the families of Indian Cossoidea, with information on type species, type locality, synonyms, clarifications, and distribution in different parts of India and Globe, are provided.
A gynandromorph of the stonefly Amphinemura zonata (Okamoto, 1922) (Plecoptera: Nemouridae) from Japan
Authors: HANADA SATOKO , YAMAMOTO EIJI
Published: August 2023

A gynandromorph of Amphinemura zonata (Okamoto, 1922) collected from Matsubara-izumi Pond in Japan is described and illustrated as the first report in the genus. The specimen exhibits bilateral gynandromorphism on abdominal sterna 7–9 and the paraprocts. Male features occur on the right half and female features on the left half. In addition, the gynandromorph is predominantly female as it retains female features on the dorsal male half of the abdomen, has eggs in the abdomen, has female-length fore wings, and lacks main male features such as an epiproct and a hypoproct on sternum 9.
New Measures for Governing Religions in Xi’s China
Authors: Lavicka Martin , Chen Julie Yu-Wen
Published: August 2023

With the incorporation of the State Administration for Religious Affairs (SARA) into the Chinese Communist Party’s (CCP) United Front Work Department in 2018, religious affairs have been brought back into the direct control of the Party. While SARA has retained its name, it is no longer an independent state agency. Five further legal measures were introduced from 2019 to 2021. This review essay examines these legal changes in order to update the dominant understanding of Xi Jinping’s attempt to reshape religious order in the hands of the CCP. The specific creation of regulations on Islamic affairs and the Internet also responds to Xi’s perceived problems regarding religious affairs in the contemporary era. Under the new measures, the state has demanded clear administration of religious groups, creating functions and positions like those in the Party’s branches. Beijing has further increased its control over religious personnel by establishing files on each of them, including details of any misconduct, in order to assess their trustworthiness. This essay concludes that the CCP continues to work toward the final eradication of religions in a Marxist manner and that China’s practices differ from existing international legal norms to which, at least nominally, China adheres as a signatory.
Predictors of treatment response and survival outcomes in patients with advanced cardiac AL amyloidosis
Authors: Gustine Joshua N. , Staron Andrew , Mendelson Lisa , Joshi Tracy , Gopal Deepa M. , Siddiqi Omar K. , Ruberg Frederick L. , Sanchorawala Vaishali
Published: August 2023

Patients with advanced cardiac immunoglobulin light chain (AL) amyloidosis have a poor prognosis. Early hematologic and cardiac responses can prolong survival, but predictors of these outcomes have yet to be clarified. We report on 142 patients with newly diagnosed stage IIIb AL amyloidosis. After a median follow-up of 60 months, the median overall survival (OS) was 9 months. Independent baseline factors associated with shorter OS were symptom onset to diagnosis >6 months (hazard ratio [HR], 1.94; P = .003); bone marrow plasmacytosis ≥ 10% (HR, 1.98; P = .01); troponin I > 0.635 ng/mL (HR, 1.62; P = .04); New York Heart Association class III or IV (HR, 1.67; P = .04); and 6-minute walk test distance < 200 m (HR, 1.85; P = .01). Early hematologic (within 1 month) and cardiac (within 3 months) responses were significantly associated with longer survival. In a 1-month landmark analysis, patients with a hematologic very good partial response, partial response, and no response had a median OS of 47, 25, and 5 months, respectively (P < .0001). Patients with cardiac response at 3 months had significantly longer OS (47 vs 11 months; P < .0001). On multivariable modeling, bortezomib use was associated with early hematologic and cardiac responses and longer OS. Symptom onset to diagnosis duration of >6 months and difference between the involved and uninvolved free light chain > 350 mg/L were independently associated with lower odds of an early cardiac response. This study identified factors predictive of treatment outcomes and survival in advanced cardiac AL amyloidosis.
AML with complex karyotype: extreme genomic complexity revealed by combined long-read sequencing and Hi-C technology
Authors: Klever Marius-Konstantin , Sträng Eric , Hetzel Sara , Jungnitsch Julius , Dolnik Anna , Schöpflin Robert , Schrezenmeier Jens-Florian , Schick Felix , Blau Olga , Westermann Jörg , Rücker Frank G. , Xia Zuyao , Döhner Konstanze , Schrezenmeier Hubert , Spielmann Malte , Meissner Alexander , Melo Uirá Souto , Mundlos Stefan , Bullinger Lars
Published: August 2023

Acute myeloid leukemia with complex karyotype (CK-AML) is associated with poor prognosis, which is only in part explained by underlying TP53 mutations. Especially in the presence of complex chromosomal rearrangements, such as chromothripsis, the outcome of CK-AML is dismal. However, this degree of complexity of genomic rearrangements contributes to the leukemogenic phenotype and treatment resistance of CK-AML remains largely unknown. Applying an integrative workflow for the detection of structural variants (SVs) based on Oxford Nanopore (ONT) genomic DNA long-read sequencing (gDNA-LRS) and high-throughput chromosome confirmation capture (Hi-C) in a well-defined cohort of CK-AML identified regions with an extreme density of SVs. These rearrangements consisted to a large degree of focal amplifications enriched in the proximity of mammalian-wide interspersed repeat elements, which often result in oncogenic fusion transcripts, such as USP7::MVD, or the deregulation of oncogenic driver genes as confirmed by RNA-seq and ONT direct complementary DNA sequencing. We termed this novel phenomenon chromocataclysm. Thus, our integrative SV detection workflow combing gDNA-LRS and Hi-C enables to unravel complex genomic rearrangements at a very high resolution in regions hard to analyze by conventional sequencing technology, thereby providing an important tool to identify novel important drivers underlying cancer with complex karyotypic changes.
Challenges and perspectives of tobacco cessation in special groups of patients and populations
Authors: Tsikrika Stamatoula , Dai Siyu , Dilektasli Asli , Katsaounou Paraskevi , Dagli Elif
Published: August 2023

During the first 2 years of the coronavirus disease 2019 pandemic, health systems worldwide were put under extreme pressure, and healthcare professionals had to manage unprecedented health crises as well as provide healthcare services to an increased number of patients. Therefore, public health policies with respect to smoking and education of the general population regarding the harmful effects of active and second-hand smoking may not have received adequate attention during this period. More specifically, certain subpopulations suffering from chronic diseases may not have received adequate information about the effects of smoking on the course and outcome of their disease; high-level, evidence-based pharmaceutical therapies; and the potential for follow-up. However, adequate education and awareness regarding short- and long-term health benefits from smoking cessation for the general population as well as special subgroups remains of utmost importance. Healthcare professionals should understand that it is only through high-quality evidence and results from independent studies that they will be able to provide their expertise and scientific knowledge concerning newer tobacco products and their effects on human health.
Microglia Sirt6 modulates the transcriptional activity of NRF2 to ameliorate high-fat diet-induced obesity
Authors: Xiao Xiaoxia , Hu Huiling , Zhong Yadi , Chen Yingjian , Tang Kaijia , Pan Zhisen , Huang Jiawen , Yang Xiaoying , Wang Qi , Gao Yong
Published: August 2023

Background

Microglia play a pivotal role in neuroinflammation, while obesity triggers hypothalamic microglia activation and inflammation. Sirt6 is an important regulator of energy metabolism in many peripheral tissues and hypothalamic anorexic neurons. However, the exact mechanism for microglia Sirt6 in controlling high-fat diet-induced obesity remain unknown.

Methods

Microglia Sirt6 expression levels under various nutritional conditions were measured in the hypothalamus of mice. Also, microglia Sirt6-deficient mice were provided various diets to monitor metabolic changes and hypothalamic inflammatory response. Besides, RNA-seq and Co-IP of microglia with Sirt6 alterations were conducted to further investigate the detailed mechanism by which Sirt6 modulated microglia activity.

Results

We found that Sirt6 was downregulated in hypothalamic microglia in mice given a high-fat diet (HFD). Additionally, knockout of microglia Sirt6 exacerbated high-fat diet-induced hypothalamic microglial activation and inflammation. As a result, mice were more prone to obesity, exhibiting a decrease in energy expenditure, impaired glucose tolerance, insulin and leptin resistance, and increased food intake. In vitro, Sirt6 overexpression in BV2 cells displayed protective effects against oleic acid and palmitic acid treatment-derived inflammatory response. Mechanically, Sirt6 deacetylated and stabilised NRF2 to increase the expression of anti-oxidative genes and defend against reactive oxygen species overload. Pharmacological inhibition of NRF2 eliminated the beneficial modulating effects of Sirt6 on microglial activity.

Conclusion

Collectively, our results revealed that microglial Sirt6 was a primary contributor of microglial activation in the central regulation of obesity. Thus, microglial Sirt6 may be an important therapeutic target for obesity.
Identification of adipose tissue transcriptomic memory of anorexia nervosa
Authors: Zapata Rizaldy C. , Nasamran Chanond A. , Chilin-Fuentes Daisy R. , Dulawa Stephanie C. , Osborn Olivia
Published: August 2023

Background

Anorexia nervosa (AN) is a complex debilitating disease characterized by intense fear of weight gain and excessive exercise. It is the deadliest of any psychiatric disorder with a high rate of recidivism, yet its pathophysiology is unclear. The Activity-Based Anorexia (ABA) paradigm is a widely accepted mouse model of AN that recapitulates hypophagia and hyperactivity despite reduced body weight, however, not the chronicity.

Methods

Here, we modified the prototypical ABA paradigm to increase the time to lose 25% of baseline body weight from less than 7 days to more than 2 weeks. We used this paradigm to identify persistently altered genes after weight restoration that represent a transcriptomic memory of under-nutrition and may contribute to AN relapse using RNA sequencing. We focused on adipose tissue as it was identified as a major location of transcriptomic memory of over-nutririon.

Results

We identified 300 dysregulated genes that were refractory to weight restroration after ABA, including Calm2 and Vps13d, which could be potential global regulators of transcriptomic memory in both chronic over- and under-nutrition.

Conclusion

We demonstrated the presence of peristent changes in the adipose tissue transcriptome in the ABA mice after weight restoration. Despite being on the opposite spectrum of weight perturbations, majority of the transcriptomic memory genes of under- and over-nutrition did not overlap, suggestive of the different mechanisms involved in these extreme nutritional statuses.
Topically applied fullerenols protect against radiation dermatitis by scavenging reactive oxygen species
Authors: Yin Hanying , Gao You , Chen Weiguang , Tang Chen , Zhu Zihan , Li Kun , Xia Siyu , Han Changshun , Ding Xiaoyan , Ruan Fengkai , Tian Hanrui , Zhu Changfeng , Xie Suyuan , Zuo Zhenghong , Liao Lixin , He Chengyong
Published: August 2023

Adverse skin reactions caused by ionizing radiation are collectively called radiation dermatitis (RD), and the use of nanomedicine is an attractive approach to this condition. Therefore, we designed and large-scale synthesized fullerenols that showed free radical scavenging ability in vitro. Next, we pretreated X-ray-exposed cells with fullerenols. The results showed that pretreatment with fullerenols significantly scavenged intracellular reactive oxygen species (ROS) produced and enhanced the antioxidant capacity, protecting skin cells from X-ray-induced DNA damage and apoptosis. Moreover, we induced RD in mice by applying 30 Gy of X-ray irradiation, followed by treatment with fullerenols. We found that after treatment, the RD scores dropped, and the histological results systematically demonstrated that topically applied fullerenols could reduce radiation-induced skin epidermal thickening, collagen deposition and skin appendage damage and promote hair regeneration after 35 days. Compared with Trolamine cream, a typical RD drug, fullerenols showed superior radiation protection. Overall, the in vitro and in vivo experiments proved that fullerenols agents against RD.
Effects of biochar on soil evaporation and moisture content and the associated mechanisms
Authors: Feng Weiying , Wang Tengke , Yang Fang , Cen Rui , Liao Haiqing , Qu Zhongyi
Published: August 2023

High soil evaporation levels are a major contributor to loss of soil moisture in arid and semiarid regions globally. Therefore, it is important to use effective measures to slow the evaporation from farmland soils. We applied various amounts of straw biochar (BC) in a soil column experiment and a field experiment to study the influence of BC on soil evaporation and moisture content, respectively, to improve the water use efficiency of cultivated soil in arid areas. The addition of BC reduced soil evaporation and delayed water loss from the soil by evaporation. In the field experiment, cumulative evaporation in the treatments declined by 9.58% (Bo-10), 10.95% (Bo-30), and 4.2% (Bo-50) compared with that in the control group, demonstrating that 30 t/hm2 BC is the most effective at suppressing soil evaporation. BC also delayed the time required for the soil moisture content to drop to field capacity and increased the upward transport of water from the deeper soil layers at night. Data from continuous monitoring of moisture content for 3 days during each growth period revealed that the increases in moisture replenishment were 18.52–79.62% at the seedling stage, 55.81–202.38% at the jointing stage, 270.83–587.5% at the tassel stage, and 6.66–61.64% at the maturation stage; hence, BC was shown to work best at the tassel stage.
Evolutionary analysis of the mTOR pathway provide insights into lifespan extension across mammals
Authors: Yang Fei , Liu Xing , Li Yi , Yu Zhenpeng , Huang Xin , Yang Guang , Xu Shixia
Published: August 2023

Background

Lifespan extension has independently evolved several times during mammalian evolution, leading to the emergence of a group of long-lived animals. Though mammalian/mechanistic target of rapamycin (mTOR) signaling pathway is shown as a central regulator of lifespan and aging, the underlying influence of mTOR pathway on the evolution of lifespan in mammals is not well understood.

Results

Here, we performed evolution analyses of 72 genes involved in the mTOR network across 48 mammals to explore the underlying mechanism of lifespan extension. We identified a total of 20 genes with significant evolution signals unique to long-lived species, including 12 positively selected genes, four convergent evolution genes, and five longevity associated genes whose evolution rate related to the maximum lifespan (MLS). Of these genes, four positively selected genes, two convergent evolution genes and one longevity-associated gene were involved in the autophagy response and aging-related diseases, while eight genes were known as cancer genes, indicating the long-lived species might have evolved effective regulation mechanisms of autophagy and cancer to extend lifespan.

Conclusion

Our study revealed genes with significant evolutionary signals unique to long-lived species, which provided new insight into the lifespan extension of mammals and might bring new strategies to extend human lifespan.
Isolation and characterization of phosphate-solubilizing bacteria from rhizosphere of poplar on road verge and their antagonistic potential against various phytopathogens
Authors: Qingwei Zeng , Lushi Tang , Yu Zhang , Yu Shao , Wanting Wu , Jiangchuan Wang , Xiaolei Ding , Xuejiao Han , Bilal Muhammad
Published: August 2023

Background

Phosphate-solubilizing bacteria (PSB) can solubilize insoluble phosphate compounds and improve phosphate availability in soil. Road verges are important in urban landscaping, but the population structure of PSB and their ecological functions in the road verge soil is still unclear.

Results

Twenty-one mineral PSB strains and 14 organic PSB strains were isolated from the rhizosphere of poplar on urban road verge. All the mineral PSB strains showed better solubilization to Ca3(PO4)2 than FePO4 or AlPO4. Among them, 7 strains showed high phosphate-solubilizing (PS) activities to Ca3(PO4)2 (150–453 mg/L). All the organic PSB strains displayed weak solubilization to lecithin. 16S rRNA gene-based phylogenetic analysis showed good species diversity of the PSB strains, which belongs to 12 genera: Bacillus, Cedecea, Cellulosimicrobium, Delftia, Ensifer, Paenibacillus, Pantoea, Phyllobacterium, Pseudomonas, Rhizobium, Sinorhizobium and Staphylococcus. Moreover, 8 PSB strains showed various degrees of growth inhibition against 4 plant pathogenic fungi, Fusarium oxysporum S1, F. oxysporum S2, Pythium deliense Meurs Z4, Phomopsis sp. AC1 and a plant pathogenic bacterium, Pectobacterium carotovorum TP1.

Conclusions

The results indicated that these PSB strains could perform multiple ecological functions on road verge. The development and application of bio-agents based on the strains would provide a new strategy for maintaining and improving the ecosystem stability of road verges.
Investigating the impact of fluid status on the ultrasound assessment of muscle quantity and quality in the diagnosis of sarcopenia – a multidimensional cross-sectional study
Authors: Stanley Benjamin , Greig Carolyn , Jackson Thomas , Lewis Danielle , Moorey Hannah , Majid Zainab , Masud Tahir , Pinkney Thomas , Welch Carly
Published: August 2023

Background

Sarcopenia is a clinical manifestation of adverse ageing, characterised by progressive loss of muscle mass and function. Diagnosis requires assessment of muscle quantity and quality; ultrasound represents an emerging tool for this. However, ultrasound muscle assessment may be impacted by fluid balance. This is particularly important when assessing for acute sarcopenia in hospitalised patients, where fluid disturbance often occurs. The primary aim of this study was to characterise the impact of fluid status on ultrasound muscle assessment, such that this may be accounted for in sarcopenia diagnostics.

Methods

This Multidimensional Cross-sectional study involved 80 participants, who were inpatients at QEHB, a large UK tertiary centre. Fluid status was evaluated clinically and quantified using Bioelectrical Impedance Analysis (BIA). Muscle quantity was measured using Bilateral Anterior Thigh Thickness (BATT) with Rectus Femoris (RF) echogenicity used to assesses muscle adiposity and hence provide an inverse measure of muscle quality.

Results

A significant positive correlation was found between fluid status, measured using BIA, and BATT as a measure of muscle quantity, in males (rs = 0.662, p < 0.001) and females (rs = 0.638, p < 0.001). A significant negative correlation was found between fluid status and RF echogenicity (rs=-0.448, p < 0.001).

Conclusions

These findings demonstrate associations between fluid balance and ultrasound assessment of muscle quantity and quality. Given the emerging use of ultrasound muscle assessment in sarcopenia diagnosis, there is a need to account for this in clinical practice. Future research should focus on the development of a corrective equation allowing assessment of muscle quantity and quality which account for changes in fluid status, hence aiding accurate diagnosis of sarcopenia.
Is waist-calf circumference ratio associated with frailty in older adults? Findings from a cohort study
Authors: Dai Miao , Song Quhong , Yue Jirong , Lin Taiping , Jie Wei , Wang Xiang , Ge Ning
Published: August 2023

Background

The waist-calf circumference ratio (WCR) has been suggested as a potential indicator of visceral adiposity. Nevertheless, the relationship between WCR and the risk of frailty remains unclear. Therefore, our study aimed to investigate the association between WCR and longitudinal changes in WCR with frailty risk in older adults.

Methods

We included 2359 participants aged ≥ 65 years without frailty (frailty index [FI] ≤ 0.21) from the Chinese Longitudinal Healthy Longevity Survey in the 2014 wave. The follow-up was conducted in 2018. We investigated the relationship of WCR, waist circumference (WC), and calf circumference (CC) with frailty using both the Cox proportional hazards model and the generalized estimating equation (GEE).

Results

During a median follow-up of 4.0 years, 668 (28.2%) frailty occurred. Those with higher WCR and WC had a significantly increased risk of frailty (fifth quintile compared with first quintile: hazard ratio [HR] = 1.59, 95% confidence interval [CI] 1.24–2.04 for WCR; HR = 1.69, 95% CI 1.27–2.24 for WC), whereas those in the fourth quintile of CC had a lower likelihood of developing frailty compared to those in the first quintile (HR = 0.67, 95% CI 0.50–0.89). Interaction analyses showed that the effects of WCR on frailty were more pronounced in females (P-interaction = 0.016). GEE analyses revealed that increased WCR and WC were associated with a higher risk of frailty (odds ratio [OR] = 1.74, 95% CI 1.43–2.12 for WCR; OR = 1.03, 95% CI 1.02–1.04 for WC), while CC showed opposite results (OR = 0.95, 95% CI 0.93–0.97).

Conclusions

A higher WCR and WC, as well as a lower CC, were significantly associated with higher frailty. Of these measures, WCR demonstrated the strongest association with frailty, suggesting that having a combination of high central fat and low lean body mass may increase the risk of developing frailty.
Prevalence of gram-negative bacteria and their antibiotic resistance in neonatal sepsis in Iran: a systematic review and meta-analysis
Authors: Moftian Nazila , Rezaei-hachesu Peyman , Arab-Zozani Morteza , Samad-soltani Taha , Esfandiari Atefeh , Tabib Mohammad Saleh , Mirnia Kayvan
Published: August 2023

Background

Neonatal sepsis, particularly gram-negative (GN) bacteria-induced, is a significant cause of morbidity and mortality in newborns. Healthcare professionals find this issue challenging because of antibiotic resistance. This study aims to combine findings to identify the prevalence of GN bacteria and their antibiotic resistance in Iranian neonates with sepsis.

Methods

This systematic review followed the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA). The literature search was performed through international databases, including (PubMed/MEDLINE, EMBASE, Scopus, and Web of Science), Iranian local databases (Magiran, Iranmedex, Irandoc, Scimed, and SID), and the first 100 records of Google Scholar. Analytical cross-sectional study checklist from the Joanna Briggs Institute (JBI) was used for the quality assessment of included studies. Comprehensive Meta-Analysis Software Version 2 was used to conduct the meta-analysis. The between-study heterogeneity was investigated by I2statistics.

Results

The prevalence of GN bacteria was estimated to be 53.6% [95% CI: 45.9– 61.1:P = 0.362] in Iranian neonates with sepsis, based on 31 studies with a sample size of 104,566. klebsiella pneumoniae (K.pneumonia) (23.2% [95% CI: 17.5–30.0,P < 0.001]) followed by Escherichia coli (E.coli) (13.5% [95% CI: 9.4–18.9,P < 0.001]) were more prevalent among GN bacteria. The highest resistance in K.pneumoniae was observed in Cefixime (80.6%, [95% CI: 56.3–93.1,P = 0.018]). E.coli showed greater resistance to Ampicillin (61.8%, [95% CI: 44.2–76.5,P = 0.188]. The prevalence of GN bacteria in Iranian neonates with sepsis has a decreasing trend based on the year, as shown by a meta-regression model (P < 0.0004).

Conclusion

GN pathogens, particularly K.pneumoniae, and E.coli, are the leading cause of neonatal sepsis in Iran. GN bacteria showed the highest resistance to Third-generation cephalosporin and Aminoglycosides.