bluuebunny/crossref_metadata_2025 huggingface dataset:
Testing the biogeochemical niche hypothesis using leaves, stems and roots of 62 Artemisia species across China
Authors: Liu Rong , Yang Xuejun , Gao Ruiru , Jiao Bohan , Huang Zhenying , Cornelissen Johannes H. C.
Published: December 2024

The biogeochemical niche (BN) hypothesis is based on the concentrations of the predominant elements of a given organism to be stoichiometrically matched in order for it to function adequately. However, it is unknown how BN is represented by different plant organs and to what extent environment or evolution affects BN.

We measured C, N, P, K, Ca and Mg concentrations in leaves, stems and roots of 1022 individuals of 62 Artemisia species collected across China to quantify BNs of the three organs.

The BN of leaves was offset from and smaller in volume than that of stems and roots. BNs of the three organs differed in their sensitivities to environmental gradients, and leaves were less responsive to environmental variation than stems and roots in both BN volumes and positions. Environmental gradients had larger effects on BN positions than on BN volumes of all three organs. The BN volumes and positions of leaves and roots had no phylogenetic signal, while stem BN had a weak signal, that is, repeated species divergences from various Artemisia branches explained most of the BN variation of the three organs.

The BN hypothesis cannot be fully tested using the elemental composition of a single organ owing to different physiological mechanisms and diverse responses of BN among organs. At least in Artemisia, leaves are strongly constrained in a limited elemental niche space to support a relatively stable supply of elements for leaf functioning, especially photosynthesis. In contrast, stems and roots develop larger elemental hypervolumes also representing nutrient storage and other functions. The BNs of Artemisia showed different environmental responses between volumes and positions, allowing these species to adjust elemental concentrations while maintaining a stable overall elemental composition under different environmental conditions.

Synthesis. In conclusion, BNs of extant Artemisia populations are determined mostly by short‐term phenotypic responses to current environmental conditions and/or genotypic variation, while the recently evolved species diversity results mostly from species‐specific and organ‐specific use of nutrients and little by early divergence in the phylogeny.
Optimising the teaching and learning process for children with special educational needs in an inclusive school: A SOAR analysis in Karachi, Pakistan
Authors: Kamran Mahwish , Kazimi Anjum Bano , Siddiqui Sohni
Published: December 2024

Even though inclusive education is one of the significant concerns of a wide‐ranging civil rights agenda, many teachers and administrators have serious hesitations about promoting the extensive placement of learners with disabilities or special educational needs in mainstream schools. However, there is widespread rhetorical commitment to inclusion, as several countries, including Pakistan, are signatories to many international documents that demand its implementation. This research study aimed to use a qualitative research method to explore the strengths, opportunities, aspirations and results (SOAR) factors that could optimise the teaching and learning process for children with special educational needs in the context of an inclusive school located in Karachi, Pakistan. Semi‐structured interviews were conducted with 16 participants. The interviews were transcribed and analysed using a case study research design. The research reveals that the school prioritises social bonds to create an inclusive environment, fostering acceptance of children with special needs. The integration of daily living activities into an inclusive classroom presents a valuable opportunity for training children with special needs and enhancing their functional abilities. The school serves as a commendable example by not only adopting inclusive pedagogical practices but also cultivating a supportive environment that fosters the acceptance and inclusion of children with special needs. The results suggest that an inclusive school caters to the strengths of children with special educational needs and allows them to sustain themselves in this setting. Moreover, the study also reveals how aspirations toward becoming an inclusive school motivated teachers to adopt pedagogical practices to facilitate teaching and learning for children with special educational needs.
Fragmented and Dealigned: The 2024 British General Election and the Rise of Place‐Based Politics
Authors: Jennings Will , Furlong Jamie , Stoker Gerry , Mckay Lawrence
Published: December 2024

While the outcome of the 2024 British general election signalled a resounding repudiation of the incumbent government—returning a 231‐seat swing from the Conservatives to Labour—it did not radically overturn the geography of electoral outcomes in England and Wales. Indeed, demographic predictors of party vote for parliamentary constituencies at the aggregate level mostly represented a continuation of recent trends. With the Conservative Party's vote collapsing most in areas where it started highest—and where the Leave vote had been highest in 2016—Labour secured shock victories in relatively affluent parts of southern England as well as retaking all the ‘red wall’ constituencies in northern England that it lost in 2019, despite its national vote share only increasing slightly. This represented the other end of the ‘realignment’ observed in 2019: as the electoral tide went out on the Conservatives, the relative weakening of their support in areas with graduates, middle class professionals and mortgage holders came home to roost. The election exposed a fragmented and marginal map, bequeathing a fragile electoral future, despite the Starmer government's large parliamentary majority.
Smoking, Genetic Susceptibility and Early Menopause: Unveiling Biological Mechanisms and Potential Therapy Targets
Authors: Liang Yuhang , Ou Jie , Fu Jing , Wang Yijing , Li Yanping , Li Jinchen , Yi Yan
Published: December 2024

Objective

To explore the association between smoking, genetic susceptibility and early menopause (EM) and clarify the potential mechanisms underlying this relationship.

Design

An observational and Transcriptome‐wide association analysis (TWAS) study.

Setting

UK Biobank and public summary statistics.

Population

139 869 women with full baseline and menopause data, and no gynaecological surgery history.

Methods

Adjusted modified Poisson regression models were developed to determine the smoking and genetic risk effects on EM. TWAS was used to identify gene expression between smoking and EM, with Mendelian randomisation (MR) to infer causality. Enrichment analysis explored regulatory networks of transcription factors, microRNAs and potential therapeutic targets. Small molecule drugs were predicted using drug‐gene interaction analysis.

Main Outcome Measures

EM prevalence and common gene expression patterns.

Results

Women with over 30 pack‐years of smoking had about 1.5 times higher EM risk, with RRs of 1.39 (95%CI, 1.23–1.56), 1.45 (1.33–1.59) and 1.45 (1.36–1.55) in the low, intermediate and high genetic risk groups. TWAS identified hub genes such as IMMP2L, BMPR2 and HMGN1. MR confirmed daily cigarette consumption as a causal factor in early menopause. Several potential therapeutic targets (e.g., SP600125, INCB18424 and ruxolitinib) were identified.

Conclusions

Smoking reduction significantly lowered the risk of EM. Hub genes and therapeutic targets identified provided new avenues for mitigating harmful effects of smoking.
A multimodal neuroimaging study of youth at risk for substance use disorders: Functional magnetic resonance imaging and [18F]fallypride positron emission tomography
Authors: Nikolic Maja , Cox Sylvia M. L. , Jaworska Natalia , Castellanos‐Ryan Natalie , Dagher Alain , Vitaro Frank , Brendgen Mara , Parent Sophie , Boivin Michel , Côté Sylvana , Tremblay Richard E. , Séguin Jean R. , Leyton Marco
Published: December 2024

Background

Adolescent alcohol use is the norm, but only some develop a substance use disorder. The increased risk might reflect heightened mesocorticolimbic responses to reward‐related cues but results published to date have been inconsistent.

Methods

Young social drinkers (age 18.5 ± 0.6 y.o.) who have been followed since birth were recruited from high‐ versus low‐risk trajectories based on externalizing (EXT) behavioral traits. All had functional magnetic resonance imaging (fMRI) scans to measure mesocorticolimbic responses to alcohol, juice, and water cues (High EXT: 20F/10M; Low EXT: 15F/12M). Most had positron emission tomography (PET) [18F]fallypride scans to measure brain regional dopamine D2 receptor availabilities (n = 47).

Results

Compared with the low EXT group, high EXT participants reported larger subjective responses to the alcohol and juice cues (vs. water). Despite this, a main effect of group was not seen for brain activation responses to the alcohol and juice cues. Instead, low EXT participants exhibited higher mesocorticolimbic activations to alcohol than juice, whereas these activations did not differ in the high EXT group. Across all participants, alcohol (vs. water) blood oxygen level‐dependent (BOLD) responses in the striatum and amygdala were associated with midbrain [18F]fallypride BPND values.

Conclusion

Young social drinkers at high versus low risk for substance use disorders did not exhibit larger mesocorticolimbic BOLD activations to alcohol‐related cues and their responses poorly differentiated alcohol from juice. These observations raise the possibility that (i) diminished mesocorticolimbic BOLD differentiations between reward‐related cues might be a marker of increased risk for substance use disorders, and (ii) previously reported large BOLD responses to drug‐related cues in people with substance use disorders might better identify the disease than pre‐existing vulnerability.
Royal Far West's Allied Health Telehealth Services for Children Post‐Bushfires
Authors: Curtin Michael , Iellamo Tayla , Anderson Donnah , Rassafiani Mehdi , Parnell Tracey , Eagland Sarah , Whitsed Rachel
Published: December 2024

Objective

To evaluate the effectiveness of Royal Far West allied health telehealth services to support the health and well‐being of children affected by the bushfires.

Setting

In response to the 2019/2020 Black Summer bushfires, Royal Far West (RFW) implemented the Community Recovery Services (CRS) targeting the health and well‐being of affected children. One component of the CRS was the delivery of allied health telehealth services to children.

Participants

One hundred and thirty‐five children participated in occupational therapy, psychology and/or speech pathology telehealth. Forty‐eight parents/carers completed a telehealth satisfaction survey.

Design

Measures used to determine effectiveness included child and parent/carer satisfaction surveys, the Canadian Occupational Performance Measure (COPM), the Goal Attainment Scale (GAS) and the Strengths and Difficulties Questionnaire (SDQ).

Results

The children overwhelmingly stated that they felt listened to (89%), enjoyed telehealth sessions (84%) and learned new ways to cope with their feelings (87%). Parents/carers reported that children had developed effective emotional regulation and coping strategies. COPM outcomes indicated the children demonstrated statistically significant large improvements in their self‐perceived performance of and satisfaction with their identified goals, p < 0.001. The GAS outcomes indicated that 86% of children attained or exceeded their set goals. A statistically significant improvement in children's mental health outcomes post‐telehealth was found, as measured by the SDQ (p < 0.05).

Conclusion

Occupational therapy, psychology and speech pathology telehealth sessions contributed to positive health and well‐being outcomes for children affected by the bushfires. The findings support the implementation of RFW's five key principles for telehealth services: (1) Access to a multidisciplinary team; (2) Practical resources; (3) Flexible delivery; (4) Providing in‐person session to support telehealth and (5) Take a ‘whole of child’ approach. Innovative telehealth offered children in geographically remote areas access to effective allied health support post‐disaster that was not readily available in their local communities.
Using protection motivation theory to explain Australian's motivations to engage in individual and collective climate actions
Authors: Mackay Matthew I. , Klas Anna , Fernando Julian , Kothe Emily J. , Ling Mathew
Published: December 2024

Using an Australian sample, the current study investigated the usefulness of protection motivation theory (PMT) in predicting intentions for two climate actions—one individual action (limiting household heating and/or cooling) and one collective action (writing a letter to a local Member of Parliament urging them to take action to mitigate climate change). The data were analysed in two ways: (1) regression analysis, to examine the independent effects of coping and threat appraisals, and (2) latent profile analysis (LPA), to understand how the coping and threat appraisals may act in combination. The regression showed that PMT explained a significant amount of variance for both behavioural intentions. While perceived response efficacy and self‐efficacy were significant unique predictors of both behavioural intentions, perceived response costs were a significant unique predictor of heating and/or cooling intentions. Although the regression analysis suggests that people were more motivated by coping appraisals for both outcomes, the LPA indicates that the coping appraisals are unlikely to lead to stronger intentions unless individuals perceive climate change to be sufficiently threatening. PMT research could benefit from employing LPA to identify participant profiles with heightened likelihoods of reporting stronger intentions to participate in climate actions.
Reflections on unheroic fieldwork
Authors: Marten Meredith G.
Published: December 2024

More than a decade ago, at the beginning of my doctoral fieldwork, I was kidnapped and robbed one morning in Dar es Salaam, Tanzania. As I negotiated the logistical and emotional aftermath of this traumatic event, I took refuge in elite, privileged spaces. In doing so, I grappled with difficult problems: my privilege, my fear and feelings of vulnerability, and my broader moral concerns about Tanzania's poverty, gross wealth inequities, and the impacts these have on public health. Here, using Harrison's framing of multiple consciousness, I reflect on my vulnerability and privilege, and how they illuminate the impact the kidnapping had on my research and my perspectives on knowledge production. I call for our discipline to continue dismantling narratives of heroic fieldwork and to make more compassionate space for honest stories of our mistakes and privileges. Doing so would allow anthropologists to more faithfully account for fieldwork's messy unpredictabilities and tangled relations.
Sacralising Chinese Entrepreneurship: Christianity and Chinese Entrepreneurial Migration in the Making of a Patriarchal Diaspora
Authors: Cao Nanlai
Published: December 2024

This article explores China's global economic presence by focusing on the changing dynamics of diasporic Chinese entrepreneurship in France. Since the turn of the new century, the ethnic Chinese population in France has become increasingly heterogeneous in migratory trajectory and socioeconomic profile. Accordingly, the focus on economic activities among tight‐knit groups in the traditional model of an ethnic enclave economy might not be adequate to capture new developments in Chinese entrepreneurship that also involve transnational religious practises. Drawing on a multi‐year ethnographic study of the Chinese Christian community in Paris—a major business centre of Chinese wholesale products in Europe, this article explores the Chinese congregational life in one of the most secularised areas of Europe in order to provide an alternative explanation for the relationship of religion and Chinese entrepreneurship. It shows that the main stakeholders spearheading diasporic church growth are those first‐generation male Chinese family entrepreneurs who place paramount emphasis on maintaining ethnic cultural roots and a traditional patriarchal social order. The image of Chinese Christian entrepreneurs with both intense economic aspirations and religious zeal navigating daily life in diaspora provides a timely counterpoint to the popular view of global Chinese migrants as purely economic agents.
“You don't need money to give alms”: The protective capacity of faith and spiritual kinship among domestic workers in Zanzibar
Authors: Ott Jessica
Published: December 2024

Few domestic workers on the semiautonomous Tanzanian archipelago of Zanzibar are registered union members, and most domestic workers neither receive nor demand their legal right to a formal contract. Relying on my yearlong engagement between 2017 and 2018 with a women's Islamic studies group and a life history interview with a domestic worker, this essay explores domestic workers' reliance on alternative protective mechanisms from unionization and formalization. The domestic workers I engaged with cultivated relationships with God, negotiated dignity, received affirmation of their spiritual equality, and developed spiritual kinship connections in faith‐based spaces. They also sought to ensure their physical and social well‐being through kin‐based connections and recruitment mechanisms. Kin‐based connections that were spiritual or that connected domestic workers to employers were more protective than kinship relations cultivated in the context of work. Furthermore, domestic workers transformed routine work tasks into opportunities to practice devotion, which reflects Swahili/Islamic understandings of personhood as going beyond the category of worker. Religious spaces and spiritual kinship offer protection to domestic workers through the forms of reciprocity they enable and are thus often a more viable framework than unionization and formalization for overcoming the compounding effects of economic crisis and social inequality on domestic workers' lives.
Roundtable discussion: Domestic worker organizing in Latin America and beyond
Authors: Baiocchi María Lis , Coe Cati , Fleischer Friederike , Hunter‐Pazzara Brandon , de Casanova Erynn Masi , Valles Dario
Published: December 2024

In 2011, the International Labor Organization (ILO) adopted the Domestic Worker Convention (no. 189), which established labor standards for household workers, including protection from abuse, provisions to ensure freedom of movement for migrant domestic workers, coverage under national minimum wage, overtime, child labor, and human rights laws, and access to contact information of private employers and appropriate legal resources, among others. Domestic worker advocates throughout Latin America rallied behind the ILO's Domestic Worker Convention to ensure its ratification at the national level. Latin American and Caribbean nations account for 55% of the national signatories to the convention; at the same time, 77% of domestic workers in the region remain informally employed. The roundtable discussion brought together scholars conducting research in Argentina, Colombia, Ecuador, and Mexico, and among Central Americans in the United States, to address the impact of the ILO convention and to share their research on domestic work and domestic worker movements. How have the changes in domestic work regulation affected the organizing efforts of domestic workers? How are domestic workers advocating for their rights in the wake of the ILO Convention?
Exploring the ecological relationship between temperature and prosocial behaviour: A geographical and temporal analysis
Authors: Ng Henry Kin Shing
Published: December 2024

Previous research on the link between temperature and prosociality has produced mixed findings. A recent meta‐analysis focusing on laboratory‐based research concluded that the effect was null, a conclusion that was subject to low ecological validity. This paper complements the discussion by investigating the link between ambient temperature and three indicators of real‐life prosociality in 164 regions over 14 years. The between‐regional comparison probes the relationship over a wide range of thermal conditions, whereas the within‐regional temporal comparison draws this literature to the real‐life problem of global warming. Bayesian analysis indicates that temperature is linked to helping strangers, but not volunteerism or charity donation. Hotter regions have more helping respondents than colder regions, and as a region warms, it also records more helping respondents. The positive link between temperature and helping is in line with social thermoregulation theory, but it is also subject to alternative explanations from a cultural perspective and sociological perspective. We conclude that it is unrealistic to expect temperature to have the same effect on all prosocial acts without considering contextual factors and the underlying mechanisms. Our findings call for a nuanced view concerning the effect of temperature on prosociality, which awaits verification by rigorous research designs.
Ribbed moraines formed during deglaciation of the Icelandic Ice Sheet: implications for ice‐stream dynamics
Authors: Aradóttir Nína , Benediktsson Ívar Örn , Helgadóttir Erla Guðný , Ingólfsson Ólafur , Brynjólfsson Skafti , Farnsworth Wesley R.
Published: December 2024

Investigations of the geomorphological fingerprints of palaeo‐ice streams are essential for enhancing our understanding of ice‐stream behaviour. Cross‐cutting flowsets of palaeo‐ice streams, during and following the Last Glacial Maximum, have been suggested in northeast Iceland based on the mapping of streamlined subglacial bedforms (SSBs). To increase our understanding of the dynamics of the Icelandic Ice Sheet (IIS) during deglaciation, we investigate transverse ridges, together with glacifluvial and ice‐marginal landforms, within the largest flowset. The main emphasis is on the transverse ridges, which are primarily interpreted as ribbed moraines – the first to be described in Iceland. Morphological data are combined with sedimentological analyses of the ribbed moraines. Our results show that the ribbed moraines are composed of pre‐existing material, often exhibiting a base of stratified glacifluvial sediments draped with subglacial till. Deformation and thrust structures within both units suggest compressional flow during the formation of the ridges. Our results suggest the ribbed moraines develop due to velocity gradients under the lateral shear margin of an ice stream based on their distribution and often oblique orientation in relation to SSBs. The ribbed moraines superimpose and thus post‐date the SSBs, signifying the waning stage of ice streaming. We suggest that the ridges formed during ice‐stream shutdown following the Younger Dryas and/or Preboreal re‐advances. Eskers and ice‐marginal landforms imply channelized water drainage during the final deglaciation interrupted by short‐lived re‐advances. This study has implications for the style of deglaciation associated with ice streaming in the northeastern part of the IIS. We characterize the role of ribbed moraines within the ice sheet and identify directions for future work.
Wildlife trade investigations benefit from multivariate stable isotope analyses
Authors: Prigge Tracey‐Leigh , Andersson Astrid A. , Hatten Chloe E. R. , Leung Even Y. M. , Baker David M. , Bonebrake Timothy C. , Dingle Caroline
Published: December 2024

The investigation of wildlife trade and crime has benefitted from advances in technology and scientific development in a variety of fields. Stable isotope analysis (SIA) represents one rapidly developing approach that has considerable potential to contribute to wildlife trade investigation, especially in complementing other methods including morphological, genetic, and elemental approaches. Here, we review recent progress in the application of SIA in wildlife trade research to highlight strengths, shortcomings, and areas for development in the future. SIA has shown success in species identification, determination of geographic provenance, and differentiating between captive‐bred and wild individuals. There are also emerging applications of SIA in wildlife trade research including the use of labelling for traceability, more in‐depth analyses such as compound specific isotope analysis (CSIA), the use of trace metal isotopes, and monitoring the health of individuals (e.g. dietary history and nutritional status). While these applications have shown the utility of SIA in wildlife trade investigations, there are a number of limitations and issues where standardisation of analytical procedures would improve the comparability and interpretation of results. First, there is high variation within many stable isotopes geographically and within tissues – this variation presents opportunities for tracking and monitoring but can also challenge detection of patterns when variation is high. Second, the choice of isotopes and tissues within an organism (and ideally, multiple isotopes and tissues) should be considered carefully as different isotopes and tissue types have variable strengths and weaknesses depending on the research question. Third, validation of SIA methods remains underutilised in the field but is critical for applying SIA broadly to wildlife trade investigations and, particularly, for applications in forensics and in court. Fourth, standards are essential for comparisons across studies. Fifth, while some reference databases exist for the use of SIA in wildlife trade research (e.g. ivory), there are still few comprehensive reference databases available. Development of robust reference databases should be a priority for advancing the use of SIA in wildlife trade research, and ecological study more broadly. Ultimately, further recognition of these primary challenges (and development of solutions) within wildlife SIA research will improve the potential for this technique in tackling the threat of overexploitation to global biodiversity – particularly in concert with the application of other investigative techniques such as genetics and elemental analysis.
Mechanisms of Resistance to KRAS Inhibitors: Cancer Cells' Strategic Use of Normal Cellular Mechanisms to Adapt
Authors: Tanaka Noritaka , Ebi Hiromichi
Published: December 2024

KRAS was long deemed undruggable until the discovery of the switch‐II pocket facilitated the development of specific KRAS inhibitors. Despite their introduction into clinical practice, resistance mechanisms can limit their effectiveness. Initially, tumors rely on mutant KRAS, but as they progress, they may shift to alternative pathways, resulting in intrinsic resistance. This resistance can stem from mechanisms like epithelial‐to‐mesenchymal transition (EMT), YAP activation, or KEAP1 mutations. KRAS inhibition often triggers cellular rewiring to counteract therapeutic pressure. For instance, feedback reactivation of signaling pathways such as MAPK, mediated by receptor tyrosine kinases, supports tumor cell survival. Inhibiting KRAS disrupts protein homeostasis, but reactivation of MAPK or AKT can restore it, aiding tumor cell survival. KRAS inhibition also causes metabolic reprogramming and protein re‐localization. The re‐localization of E‐cadherin and Scribble from the membrane to the cytosol causes YAP to translocate to the nucleus, where it drives MRAS transcription, leading to MAPK reactivation. Emerging evidence indicates that changes in cell identity, such as mucinous differentiation, shifts from alveolar type 2 to type 1 cells, or lineage switching from adenocarcinoma to squamous cell carcinoma, also contribute to resistance. In addition to these nongenetic mechanisms, secondary mutations in KRAS or alterations in upstream/downstream signaling proteins can cause acquired resistance. Secondary mutations in the switch‐II pocket disrupt drug binding, and known oncogenic mutations affect drug efficacy. Overcoming these resistance mechanisms involves enhancing the efficacy of drugs targeting mutant KRAS, developing broad‐spectrum inhibitors, combining therapies targeting multiple pathways, and integrating immune checkpoint inhibitors.
Risk factors for isolated congenital heart defects in infants from Western Mexico
Authors: Cruz‐Cruz Jessica Paola , Nieto‐García Rafael , Rivera‐Ramírez Pascuala Berenice , Peña‐Padilla Christian , Bobadilla‐Morales Lucina , Corona‐Rivera Alfredo , Rodríguez‐Machuca Víctor Ulises , Valdez‐Muñoz Sandra Rocio , Corona‐Rivera Jorge Román
Published: December 2024

Congenital heart defects (CHDs) are caused by a complex interaction between numerous genetic and environmental risk factors, some of which may differ between different populations. A case–control study was conducted among 1232 newborns, including 308 patients with isolated CHDs (cases) and 924 infants without birth defects (controls), born all during the period 2009–2023 at the Hospital Civil de Guadalajara “Dr. Juan I. Menchaca” (Guadalajara, Mexico). Potential parental risk factors for CHDs were compared using multivariate logistic regression analysis to evaluate the deviance explained by different variables of interest. Consanguinity [adjusted odds ratio (aOR) = 3.3; 95% confidence interval (CI) 1.3–8.5], relatives with CHD (aOR = 8.5; 95% CI 5.3–13.8), maternal first‐trimester exposure to diabetes (aOR = 3.5; 95% CI 2.4–5.1), hypertension (aOR = 2.6; 95% CI 1.5–4.4), alcohol consumption (aOR = 1.5; 95% CI 1.0–2.1), and illicit drug use (aOR = 2.4; 95% CI 1.2–5.3), as well as for the paternal history of alcohol consumption (aOR = 1.4; 95% CI 1.0–1.8) and illicit drug use (aOR = 2.7; 95% CI 1.7–4.1), were associated with CHDs. Contrarily, aOR for maternal age ≤19 years (aOR = 0.6; 95% CI 0.4–0.8) and maternal first‐trimester coffee consumption (aOR = 0.7; 95% CI 0.5–0.9) have protective odds. Our results suggest that genetic factors, maternal diseases, environmental exposures, and reproductive factors can increase the occurrence of isolated CHDs in our sample, and they are discussed as clues in its pathogenesis.
Identification of the Third Patient With PAICS Deficiency Harbouring the p.(Lys53Arg) Recurrent Variant, Extending the Phenotype Diversity
Authors: Boussion Simon , Aumar Madeleine , Hutt Antoine , Fron Damien , Fayoux Pierre , Ghoumid Jamal , Gottrand Frédéric , Smol Thomas
Published: December 2024

Phosphoribosylaminoimidazole carboxylase (PAICS) deficiency, caused by biallelic variants in PAICS gene, is an inborn error of de novo purine synthesis. Only two patients from a consanguineous family have been reported, with multiple congenital malformations, resulting in early neonatal death. Molecular analysis identified a homozygous p.(Lys53Arg) missense variant. We report the third case of PAICS deficiency in a 7 years old boy, presenting with polymalformative syndrome, but normal neurodevelopment. We report malformations not previously described in PAICS deficiency, notably congenital cardiopathy, and support the consistency of skeletal and oesophageal defects. Genome Sequencing identified the homozygous pathogenic variant p.(Lys53Arg), suggesting a recurrent variant in PAICS. A probable recurrence of PAICS deficiency occurred in a sibling, with a similar polymalformative syndrome antenatally diagnosed, but could not be confirmed molecularly. We further delineate the phenotype of PAICS deficiency and provide new insights concerning prognosis, notably in terms of neurodevelopment.
Next Generation Phenotyping and Synthetic Faces in Coffin Siris Syndrome
Authors: Hennocq Quentin , Lienhard Olivier , Rao Dipesh , Amiel Jeanne , Benichou Ludovic , Bongibault Thomas , Hidalgo Ana‐Julia Bravo , Cormier‐Daire Valérie , Lyonnet Stanislas , Picard Arnaud , Rio Marlène , Zaiter Ahmed , Garcelon Nicolas , Tkemaladze Tinatin , Khonsari Roman H.
Published: December 2024

Diagnostic wandering and delayed management are major issues in rare diseases. Here, we report a new Next‐Generation Phenotyping (NGP) model for diagnosing Coffin Siris syndrome (CSS) on clinical photographs among controls and distinguish the different genotypes. This retrospective and prospective study, conducted from 1998 to 2023, included frontal and lateral pictures of confirmed CSS. After automatic placement of landmarks, geometric features extraction using procrustes superimposition, and textural features using a gray‐level co‐occurrence matrix (GLCM), we incorporated age, gender, and ethnicity and used XGboost (eXtreme Gradient Boosting) for classification. An independent validation set of confirmed CSS cases from centers in Bangalore (India) and Tbilissi (Georgia) was used. We then tested for differences between genotype groups. Finally, we introduced a new approach for generating synthetic faces of children with CSS. The training set included over 196 photographs from our center, corresponding to 58 patients (29 controls, 29 CSS). We distinguished CSS from controls in the independent validation group with an accuracy of 90.0% (73.5%–97.9%, p = 0.001). We found no facial shape difference between the different genotypes.
Guidelines for Diagnosis of Noise‐Induced Hearing Loss and Their Specificity
Authors: Lutman Mark E. , de Carpentier John , Green Kevin
Published: December 2024

Objectives

A recent paper by Moore, Lowe and Cox has proposed guidelines for diagnosing noise‐induced hearing loss (NIHL). It is referred to here as the MLC guidelines. Our aim was to assess the specificity of those guidelines (i.e., freedom from false‐positive outcomes) and compare with pre‐existing guidelines.

Design

We applied the MLC guidelines and pre‐existing guidelines to three data sets composed of adults who do not have a history of material noise exposure and therefore cannot have NIHL.

Setting

National Health Service (NHS) ENT clinic.

Participants

Five hundred thirty‐six patients with hearing difficulty and/or tinnitus who denied material noise exposure. Two large archival population studies of hearing were also assessed, which included 3250 participants without material noise exposure.

Main Outcome Measure

False‐positive outcome from guidelines.

Results

The MLC guidelines demonstrated moderate or high false‐positive rates overall, the magnitude depending on the noise exposure scenario and whether clinical or population samples were considered. For the procedure applicable to steady broadband noise exposure, the false‐positive rate averaged 56% in the population samples, compared to 31% for previous guidelines. For exposure to intense impulse sounds, the MLC guidelines take a different approach and the false‐positive rate was about 70% in the population samples and even higher in the clinic sample. For exposure to intense tones, the MLC guidelines take yet another approach and the false‐positive rate reached 80%.

Conclusions

The MLC guidelines demonstrate poorer specificity than previous guidelines. Medical experts should be aware of their poor specificity and consequential likelihood of false‐positive diagnoses of NIHL.
Characteristics of interventions with exercise according to the adherence of adults with obesity: A systematic review
Authors: Streb Anne Ribeiro , Tozetto Willen Remon , da Silva Caroline Soares , Bertuol Cecília , Minatto Giseli , Del Duca Giovani Firpo
Published: December 2024

The aim was to summarize the characteristics of exercise interventions based on the adherence of adults with obesity. Studies were identified through a systematic review of the literature conducted in databases in June 2022. The articles selected were from clinical trials involving adults with obesity. The total number of prescribed sessions and the mean or percentage of sessions attended by participants who completed the intervention were identified, along with details of the exercise prescription, including duration, attendance, and intensity control. A total of 21 studies were included in the synthesis. The adherence percentage ranged from 18% to 99% of the prescribed exercise sessions. Interventions that provided only guidance meetings for physical activities without supervising the training—allowing participants to choose the modality and loads—resulted in adherence to less than half of the prescribed sessions. The session duration and weekly attendance varied between 30–60 min and 2–3 times per week across the studies synthesized. These variables did not appear to significantly affect adherence percentages in this population. It was possible to conclude that supervised interventions, with combined training, which include moderate to high‐intensity physical exercises and/or interval training and with some social support, resulted in greater adherence to sessions in adults with obesity.
Conservation Biogeography of Mountain Vipers: A Phylogenetic Niche Modelling Approach
Authors: Ahmadi Mohsen , Hemami Mahmoud‐Reza , Kaboli Mohammad , Ghane‐Ameleh Somayeh , Malekian Mansoureh
Published: December 2024

Aim

Mountain vipers belonging to the Montivipera genus represent a fascinating example of neo‐endemism found in the high plateaus of Iran, Anatolia and the Caucasus. Given the conservation challenges faced by these species, it is crucial to understand their phylogenetic relationships and suitable habitats in order to implement effective conservation strategies. In this study, we integrated phylogeny and Ecological Niche Modelling (ENM) techniques to investigate the conservation biogeography of mountain vipers.

Location

Irano‐Anatolian, Caucasus and Levant.

Methods

We first reconstructed phylogenetic tree of the species, and then, by using a set of occurrence records of the identified clades and environmental variables we modelled ecological niche of the species using the MaxEnt model and PCA‐env analysis. Finally, we conducted a gap analysis to assess the conservation status of the species, taking into account their representation within Protected Areas (PAs) in the region.

Results

The results revealed a well‐resolved phylogenetic divergence of the species into three main clades and 12 lineages, which corresponded to their geographic distribution. Results of the MaxEnt model showed excellent predictive performance (AUC > 0.9 and TSS > 0.8) for all species. Both ENM analyses demonstrated varying levels of ecological niche conservatism, divergence and convergence across environmental gradients. The gap analysis showed a better representation of mountain vipers within Iran's PAs (20.3% overlap), particularly compared to those in Turkey (2.9%).

Main Conclusions

We designate mountain vipers as phylogeographic focal species due to their isolated distribution in the region's mountains and the significant overlap of their suitable habitats with paleontological refugia. We emphasise their significance in promoting PAs and prioritising conservation efforts for the region's biota.
When One Global Invasion Hides Another—Cryptic Interspecific Invasion in Freshwater Gastropods
Authors: Albrecht Christian , Clewing Catharina , Seebens Hanno , Chibwana Fred D. , Da Silva Edson Lourenço , Leal Manuella F. , Lingofo Bolaya Roger , Marwoto Ristiyanti M. , Odaibo Alexander , Pinheiro Tamaris G. , Popoola Michael O. , Riedel Frank , Stelbrink Björn
Published: December 2024

Aim

Cryptic invasions are an understudied phenomenon among species invasions, especially in freshwater invertebrates. We study the gastropod family Physidae, including the global invaders Physella acuta and several enigmatic Stenophysa species, their phylogenetic relationships and the presence of native species among African Physidae. We infer distribution pattern, colonisation history and invasion ecology across Africa. Finally, we reconstruct the colonisation pathways and their timing into, across (and out of) Africa and model future dispersal.

Location

Global, with a focus on Africa and Indian Ocean islands.

Methods

Based on extensive sampling, multi‐gene phylogenetic, phylogeographic and ecological analyses, including species distribution modelling, we here examine Physidae globally.

Results

The Physidae probably originated in the Lower Cretaceous. A robust phylogeny showed four strongly supported genus‐level clades corresponding to Physella, Physa, Stenophysa and Aplexa. Physella acuta thrives in continental African countries and Indian Ocean islands. The African continent was colonised at least six times independently.

For Stenophysa, the phylogeny suggests two independent transoceanic dispersal events into Africa and the Indian Ocean islands. Physella acuta occurs not only in artificial or highly disturbed habitats but also in large natural lakes. Stenophysa marmorata is ecologically flexible. The SDM for S. marmorata based on the selected climate variables predicted high probabilities of future occurrence in equatorial Africa and regions in the Indo‐Malayan Archipelago, New Guinea and eastern Australia.

Main Conclusions

Physidae contains examples of both intraspecific cryptic and interspecific cryptic invasions, with an intraspecific invasion of Physella acuta and a prime example of an interspecific cryptic invasion of Stenophysa spp. This study highlights the importance of cryptic invasions in freshwaters and also calls for their management. Stenophysa is likely to become pan‐tropical in the future. Physidae are an excellent model to study differential patterns and processes of intra‐ versus interspecific invasions at global and regional scales.
Trait‐Based Indicators of Marine Communities' Sensitivity to Climate Change and Fishing
Authors: Polo Julia , López‐López Lucía , Engelhard Georg H. , Punzón Antonio , Hidalgo Manuel , Rutterford Louise A. , Bariáin Marta Sainz , González‐Irusta José Manuel , Esteban Antonio , García Encarnación , Vivas Miguel , Pecuchet Laurene
Published: December 2024

Aim

Overexploitation of wildlife and anthropogenic climate change are key drivers of global biodiversity loss. Investigating how these stressors interact and affect ecosystems is critical for conservation efforts. Following trait‐based vulnerability assessments, we propose two community‐level sensitivity indicators: climate change (SCC) and fishing pressure (SFP).

Location

Cantabrian and Spanish Mediterranean Sea.

Methods

Both indicators were calculated for 246 fish and megabenthos species, sampled during 1994–2019 in two areas with contrasting levels of warming and fishing pressure. Indicator calculation was based on traits that, according to existing evidence, can be linked to (1) sensitivity to climate change (scored as SCC) and (2) sensitivity to fishing pressure (SFP). Using each species' sensitivity scores, and abundance data from the surveys, we explored whether these areas' community‐level sensitivity has changed spatiotemporally in line with the expected functional responses to these predominant pressures.

Results

Although both regions have warmed, the Spanish Mediterranean is far more so. Its community‐level SCC has decreased, reflecting a shift in composition from warm‐sensitive to warm‐affinity species. In contrast, sensitivity dynamics in the Cantabrian Sea varied, with warm‐sensitive species increasing in deeper areas and decreasing towards the inner Bay of Biscay. Decreasing fishing pressure in both regions paralleled an increase in sensitivity in the Cantabrian Sea, particularly among slow‐reproducing, longer‐lived species. The Spanish Mediterranean, however, showed a relative loss of fishing‐sensitive, long‐lived species and both cases showed spatial heterogeneity.

Main Conclusions

Associations are revealed between SCC and SFP, and climate change and fishing, respectively. We conclude that SCC and SFP are valuable indicators of the community‐level sensitivities to these two pressures, and we discuss the limitations and assumptions that underly this and other trait‐based approaches. We recommend wider usage of this kind of indicators, which could be applied globally to understand risks of marine communities to climate change and fishing.
The effect of automated insulin delivery system use on diabetes distress in people with type 1 diabetes and their caregivers: A systematic review and meta‐analysis
Authors: Canha Dulce , McMahon Virginia , Schmitz Susanne , De Beaufort Carine , Alzaid Fawaz , Reznik Yves , Riveline Jean‐Pierre , Fagherazzi Guy , Aguayo Gloria A.
Published: December 2024

Aims

Diabetes distress (DD) is prevalent among people with diabetes. While automated insulin delivery systems (AIDs) improve glycaemic control, their impact on DD is unclear. We aimed to investigate the effect of AIDs on DD in people with diabetes and their caregivers.

Methods

We focused on people with diabetes using AIDs versus other insulin delivery systems, with DD as the outcome. We included randomised controlled trials (RCTs), before‐after studies (BAS) and observational studies until 4 April 2024. After screening, 40 studies were included in the systematic review, comprising 5426 participants (3210 adults, 1131 paediatric and 1085 caregivers). Twenty‐seven studies were selected for the meta‐analysis (focusing solely on type 1 diabetes). We used random effects models by population and study design. We also conducted a subgroup analysis by age group (children vs. teenagers).

Results

In adults, eight BAS and five RCTs indicated a significant small DD reduction post‐AID initiation (standardised mean difference [95% confidence intervals] −0.32 [95% CI: −0.40, −0.24] and [−0.19 (−0.27, −0.11)]). No significant changes were observed in the paediatric population. In caregivers, eleven BAS and five RCTs indicated a significant moderate DD reduction (−0.48 [95% CI: −0.78, −0.18] and (−0.22 [−0.38, −0.06])). Subgroup analysis revealed an increased benefit in parents of children compared to parents of teenagers.

Conclusions

This work suggests that AIDs is associated with a DD reduction in adults and caregivers but not in children/teenagers with type 1 diabetes. More longitudinal studies and better systematic DD assessments are needed.
Aerobic exercise improves energy and glucose homeostasis through hypothalamic Mitofusion 2‐rescued endoplasmic reticulum stress in diet‐induced obese mice
Authors: Zhang Siyan , Chen Yi , Yang Ruiyu , Ye Liu , Chen Hong , Jiang Li , Bai Dingqun , Wu Dandong
Published: December 2024

Aims

Hypothalamic endoplasmic reticulum stress (ERS) and mitochondrial dysfunction are two important mechanisms involved in the pathophysiology of obesity, which can be reversed by aerobic exercise to improve organ function. Mitofusion 2 (Mfn2), a mitochondrial membrane protein, affects both mitochondrial dynamics and ER morphology. This study explored the contribution of hypothalamic Mfn2 to exercise‐induced improvements in energy homeostasis and peripheral metabolism and the underlying mechanisms involved.

Materials and Methods

We determined the effects of aerobic exercise on energy metabolism and the expression of Mfn2 and α‐MSH in the hypothalamus of diet‐induced obesity (DIO) model mice. In addition, hypothalamic ER signalling and insulin signalling in both the hypothalamus and the liver were evaluated following 4 weeks of aerobic exercise. By using an adenovirus carrying shRNA‐Mfn2, we further explored the effects of hypothalamic Mfn2 on exercise‐induced improvements in energy metabolism, ER signalling and insulin signalling.

Results

Energy metabolism was obviously improved following 4 weeks of aerobic exercise in DIO model mice. However, after hypothalamic Mfn2 knockdown, the effects of exercise on food intake and peripheral metabolism were significantly suppressed. Hypothalamic ER signalling was attenuated significantly, whereas both hypothalamic and hepatic insulin signalling were obviously activated following aerobic exercise. Nevertheless, exercise‐induced improvements in ER signalling and insulin signalling were attenuated significantly after Mfn2 knockdown.

Conclusion

These data indicate that aerobic exercise improves whole‐body metabolism in DIO mice, probably via increased hypothalamic Mfn2, which could be further mediated by attenuated HFD‐induced ER stress in the hypothalamus.