bluuebunny/crossref_metadata_2025_split huggingface dataset:
Molecular Method Based on Hydrolysis Probe Assays to Identify the Sex Chromosomes of Iberian Desman (Galemys pyrenaicus) Using Non‐Invasive Sampling
Authors: Ripa Adriana , Palacios‐Gonzalez María Jesús , Díaz‐Caballero José A. , Espinosa Antonio , Zalba Francisco Javier , García‐Zapata Juan Luis , Fernádez‐García José Luis 
Published: December 2024

ABSTRACTDesmans belong to the subfamily Desmaninae, which are members of the family Talpidae. Desmans and moles show limited sexual dimorphism, making unclear sex discrimination by phenotypic assessment. The Iberian desman (Galemys pyrenaicus) is an endangered species with a severe population decline. Knowledge of sex and sex ratio is essential for conservation and management. Based on these arguments and although previous conventional PCR studies amplifying DBX/DBY genes were relatively successful in sexing the desman, high‐resolution sex‐specific PCR has been requested. All these reasons encouraged us to develop new species‐specific RT‐qPCR assays by TaqMan probes to determine the sex in desman, especially with genetic material from non‐invasive samples. Accordingly, efficiency, limit of detection (LOD), specificity, and DNA analysis from faeces were verified. The target genes DBX and DBY were amplified with gDNA from both sexes, with Y‐chromosome consistently absent in the female. Despite the modest efficiency, regression analysis (R2 > 0.999) indicated a linear range of the DBX and DBY assays extending from 20 to 0.2 ng/µL DNA. LOD analyses estimated that twice as much gDNA was needed in males as in females for DBX detection. Paradoxically, the Y‐chromosome required three times as much gDNA as the X‐chromosome using a male sample. Therefore, an unexpected dosage imbalance in the genome in favour of the X chromosome was discussed in light of an apparent multicopy nature of the DBX gene and with a sexing success rate of 49.9% of the non‐invasive samples, supporting Fisher's principle for the mammalian XX/XY sex system, as expected.
Effects of heat stress on predicted energy balance, fat‐to‐protein ratio, and milk β‐hydroxybutyrate in first‐lactation Holstein cattle in Hokkaido, Japan
Authors: Ishida Satoka , Nishiura Akiko , Yamazaki Takeshi , Abe Hayato , Nakagawa Satoshi , Nakahori Yuka , Yamaguchi Shigeki , Masuda Yutaka , Saito Yuriko , Tatebayashi Ryoki , Osawa Takefumi , Huang Che‐Hsuan , Hagiya Koichi 
Published: December 2024

AbstractHeat stress (HS) reduces dry‐matter intake and causes negative energy balance (EB) in Holstein cattle, with consequent deterioration in milk production and wellness. Therefore, the effects of HS can be detected more directly from imbalances in EB than from the consequent changes in production or health traits. EB can be monitored by metabolism‐related traits such as predicted EB (PEB), the fat‐to‐protein ratio (FPR), or β‐hydroxybutyrate (BHB) in milk. We examined the days on which HS effects on the test‐day PEB, FPR, or milk BHB were the greatest in first lactation. We collected weather records and test‐day records. We considered the fixed effects of herd‐year, test month, calving age, days in milk, temperature–humidity index (THI) from any one of test day to 14 days prior (15 models per trait), and random effects of animal and residuals in the models and compared the deviance information criterion (DIC) between models for each trait. For PEB, FPR, and milk BHB, the model gave the lowest DIC when including the effect of THI 1, 1, and 0 day before the test day. We observed that HS caused a decrease in PEB and an increase in FPR and milk BHB.
Advancing yeast cell analysis: A cryomethod for serial block‐face scanning electron microscopy imaging in mitochondrial morphology studies
Authors: Blancard Corinne , Decoeur Fanny , Duvezin‐Caubet Stéphane , Giraud Marie‐France , Salin Bénédicte 
Published: December 2024

AbstractBackground InformationConventional Transmission Electron Microscopy analysis of biological samples often provides limited insights due to its inherent two‐dimensional (2D) nature. This limitation hampers a comprehensive understanding of the three‐dimensional (3D) complexity of cellular structures, occasionally leading to misinterpretations. Serial block‐face scanning electron microscopy emerges as a powerful method for acquiring high‐resolution 3D images of cellular volumes. By iteratively removing ultrathin sample sections and capturing images of each newly exposed surface, Serial block‐face scanning electron microscopy allows for the meticulous reconstruction of a comprehensive 3D volume.ResultsIn this study, we investigate the 3D architecture of altered mitochondrial morphologies in Saccharomyces cerevisiae using Serial block‐face scanning electron microscopy imaging. We have developed a novel cryomethod based on plunge freezing and a dedicated freeze‐substitution protocol.ConclusionThis protocol enhances ultrastructural preservation enabling a more accurate understanding of mitochondrial defects observed in 2D electron microscopy.SignificanceOur findings underscore the utility of Serial block‐face scanning electron microscopy coupled with optimized sample preparation techniques in elucidating complex cellular structures in 3D.
Performance evaluation of CXCL10 ELISA “cosmic” kit to measure CXCL10 in cerebrospinal fluid of patients with HTLV‐1‐associated myelopathy
Authors: Ko Riyoko , Takahashi Katsunori , Kunitomo Yasuo , Tanabe Kenichiro , Yagishita Naoko , Yamauchi Junji , Araya Natsumi , Nakashima Makoto , Horibe Erika , Shimizu Takahiro , Sato Tomoo , Yamano Yoshihisa 
Published: December 2024

AbstractObjectivesThis study aimed to validate the clinical utility of cerebrospinal fluid (CSF) CXCL10 measurements in HTLV‐1‐associated myelopathy (HAM) using a CXCL10 ELISA “Cosmic” kit, a more widely applicable method than cytometric bead array (CBA).MethodsCSF CXCL10 levels were measured in 165 samples from 111 patients with HAM and 18 controls using a CXCL10 ELISA “Cosmic” kit. We assessed the following: (1) CSF CXCL10 concentrations by HAM activity level (high, moderate, and low) versus controls; (2) correlation with CBA; (3) cutoff values, sensitivity, and specificity for differentiating among HAM activity levels; (4) changes in HAM activity after steroid therapy; and (5) relationship between HAM activity and prognosis in patients undergoing steroid therapy. A correlation coefficient of ≥0.9 with CBA was the primary endpoint.ResultsThe median CSF CXCL10 levels in the high, moderate, low, and control groups were 4016.0, 841.0, 112.8, and 102.5 pg/mL, respectively. The ELISA findings were highly correlated with the CBA findings (r = 0.99). Cutoff values were set at 2500 pg/mL (sensitivity, 93.3%; specificity, 100%) to distinguish between high and moderate activity and 180 pg/mL (sensitivity, 81.8%; specificity, 100%) for low to moderate activity comparable to CBA. The new cutoffs enabled the detection of HAM activity changes and prediction of motor disability progression under steroid therapy.ConclusionCXCL10 ELISA “Cosmic” kit findings were strongly correlated with CBA findings, meeting the primary endpoint and demonstrating comparable sensitivity and specificity for distinguishing HAM activity. This product shows a promising ability to determine the therapeutic strategy.
Split Hand‐Foot Malformations—Unveiling Unique Molecular Diagnosis From a Brazilian Cohort
Authors: Cás Eduardo Da , Ceroni José Ricardo Magliocco , Yamamoto Guilherme Lopes , Castro Matheus Augusto Araújo , Bisneto Edgard França , Jorge Alexander Augusto de Lima , Filho Joao Bosco Oliveira , Kim Chong Ae , Krepischi Ana Cristina Vitorino , Bertola Débora Romeo 
Published: December 2024

ABSTRACTSplit hand‐foot malformation (SHFM) is a congenital limb malformation affecting primarily the central rays of the hands and/or feet, with variable expressivity, incomplete penetrance and syndromic forms. It is genetically heterogeneous, including point mutations and structural variants in different loci. Five individuals with SHFM were clinically evaluated in a Tertiary Center in Brazil: four of them presented additional, nonskeletal findings, including one individual with split foot, hand syndactyly, and ectodermal findings. Structural variants and point mutations in genes associated with SHFM were identified in all individuals. Our results highlight genetic heterogeneity observed in this group of skeletal disorders, alongside incomplete penetrance, a challenging task imposed on genetic counseling. Of note, an individual harboring a recurrent heterozygous variant in MAP3K20 presented a phenotype reminiscent of TP63‐related disorders, contrary to the one recently reported in the literature with prominent facial dysmorphisms, expanding the phenotypic spectrum of this newly recognized syndromic form of SHFM.
Utilizing Centromedian Thalamus Connectivity to Personalize Noninvasive Neuromodulation Targets
Authors: Fu Cong , Feng Zijian , Ge Qiu , Yue Juan , Zang Yu‐Feng , Luan Guoming 
Published: December 2024

ABSTRACTIntroductionThe centromedian nucleus (CM) of the thalamus is essential for arousal, attention, sensory processing, and motor control. Neuromodulation targeting CM dysfunction has shown efficacy in various neurological disorders. However, its individualized precise transcranial magnetic stimulation (TMS) remains unreported. Using resting‐state functional MRI, we mapped CM‐based functional connectivity (CM‐FC) to develop a personalized TMS scheme for neurological conditions.MethodsWe first analyzed the CM‐FC patterns of healthy subjects via 10 scanning sessions in three MRI scanners spanning two subject groups: one from the Human Connectome Project (n = 20, four sessions) dataset and the other from Hangzhou Normal University (n = 20, three sessions of 3 T MRI and three sessions of 1.5 T MRI). Pearson's correlation was used for CM‐FC evaluation. Then, we proposed an overlapping index ranging from 1 to 10, and group‐level clusters with the highest overlapping index located 4 cm beneath the scalp were identified. In the individual CM‐FC map, watershed image segmentation was used to obtain an individual cluster. The peak voxel with the highest FC value within the individual cluster was defined as a potential individualized target for future TMS.ResultsThe spatial FC patterns were remarkably similar between the left and right CMs. CMs have widespread positive connectivity with cortical areas, including the sensorimotor cortex, supplementary motor area, middle frontal cortex, medial temporal cortex, and middle cingulate. Among the group‐level FC patterns of the left and right CMs, only the left CM had a group cluster in the left primary sensorimotor cortex (PSMC, cluster size = 51) with an overlapping index of 10, that is, 10 sessions showed significant CM‐FC.ConclusionsThe left PSMC exhibited reproducible FC with the left CM. The individual peak FC location in the left PSMC could be used as a TMS target for indirect modulation of CM activity and aid in the treatment of CM‐related neurological disorders.
The Circadian Clock Gene Bmal1 Regulates Microglial Pyroptosis After Spinal Cord Injury via NF‐κB/MMP9
Authors: Li Dachuan , Liu Siyang , Lu Xiao , Gong Zhaoyang , Wang Hongli , Xia Xinlei , Lu Feizhou , Jiang Jianyuan , Zhang Yuxuan , Xu Guangyu , Zou Fei , Ma Xiaosheng 
Published: December 2024

ABSTRACTBackgroundThe treatment of spinal cord injury (SCI) is usually ineffective, because neuroinflammatory secondary injury is an important cause of the continuous development of spinal cord injury, and microglial pyroptosis is an important step of neuroinflammation. Recently, Bmal1, a core component of circadian clock genes (CCGs), has been shown to play a regulatory role in various tissues and cells. However, it is still unclear whether Bmal1 regulates microglial pyroptosis after SCI.MethodsIn this study, we established an in vivo mouse model of SCI using Bmal1 knockout (KO) mice and wild‐type (WT) mice, and lipopolysaccharide (LPS)‐induced pyroptosis in BV2 cells as an in vitro model. A series of molecular and histological methods were used to detect the level of pyroptosis and explore the regulatory mechanism in vivo and in vitro respectively.ResultsBoth in vitro and in vivo results showed that Bmal1 inhibited NLRP3 inflammasome activation and microglial pyroptosis after SCI. Further analysis showed that Bmal1 inhibited pyroptosis‐related proteins (NLRP3, Caspase‐1, ASC, GSDMD‐N) and reduced the release of IL‐18 and IL‐1β by inhibiting the NF‐κB /MMP9 pathway. It was important that NF‐κB was identified as a transcription factor that promotes the expression of MMP9, which in turn regulates microglial pyroptosis after SCI.ConclusionsOur study initially identified that Bmal1 regulates the NF‐κB /MMP9 pathway to reduce microglial pyroptosis and thereby reduce secondary spinal cord injury, providing a new promising therapeutic target for SCI.
Influence of TyG Index on Large Vascular Occlusive Stroke Following Endovascular Treatment
Authors: Sun Wei , Shen Huixin , Wu Xiao , He Aini , Yao Xuefan , Chen Fei , Song Haiqing , Huang Xiaoqin 
Published: December 2024

ABSTRACTAimsThis study aimed to investigate the impact of the triglyceride‐glucose index (TyG index) on clinical consequences in individuals with large vascular occlusion (LVO)‐induced acute ischemic stroke (AIS) following endovascular treatment (EVT).MethodsWe conducted a single‐center retrospective cohort study, including AIS with LVO who underwent EVT. Patients were categorized into TyG index groups, calculated as “(fasting triglyceride [mg/dL] × fasting blood glucose [mg/dL]/2).” Clinical outcomes were assessed, including poor outcome (modified Rankin Scale [mRS] > 2 [3–6]) at 90 days, early neurological deterioration (END), symptomatic intracranial hemorrhage (sICH), and 90‐day mortality after EVT. Logistic regression and restricted cubic splines (RCS) were used to examine the relationship between the TyG index and clinical outcomes. Receiver operating characteristic (ROC) curve was constructed to evaluate the prognostic capacity of the TyG index.ResultsA total of 424 patients were included. Higher TyG levels were associated with worse functional outcome at 90 days (per unit: p = 0.006), sICH (per unit: p = 0.002, T3 versus T1: p = 0.004), and 90‐day mortality (T2 versus T1: p = 0.011, T3 versus T1: p = 0.029) in logistic regression. A RCS model revealed a linear association between the TyG index and poor outcome at 90 days, sICH, and 90‐day mortality (p for nonlinearity > 0.05). In ROC curve analysis, the traditional risk factors model (area under the curve [AUC]: 0.824, 95% CI: 0.784–0.859) was outperformed by the conventional risk factors + TyG index model (AUC: 0.845, 95% CI: 0.807–0.878) in predicting poor outcome (p = 0.021).ConclusionA higher TyG index is associated with worse clinical outcomes in LVO‐induced AIS patients after EVT. Additionally, the TyG index enhances risk prediction of traditional risk factors for poor outcome.
Cumulative Heat Stress in Fluctuating Temperatures and Implications for the Distribution of Freshwater Fish
Authors: Rezende Enrico L. , Carter Mauricio J. 
Published: December 2024

ABSTRACTPredicting how rising temperatures will impact different species and communities is imperative and increasingly urgent with ongoing global warming. Here, we describe how thermal–death time curves obtained in the laboratory can be combined with an envelope model to predict the mortality of freshwater fish under field conditions and their distribution limits. We analyze the heat tolerance and distribution of 22 fish species distributed across North America and demonstrate that high temperatures imposed a distribution boundary for 11 of them, employing a null model. Importantly, predicted thermal boundaries closely match the warmest suitable locality of the envelope model. Simulated warming suggests that the distribution of fish species with lower heat tolerances will be disproportionately affected by rising temperatures, and the rate of local extinctions will be higher across fish communities in warmer localities. Ultimately, our analyses illustrate how physiological information can be combined with distribution models to forecast how warming temperatures are expected to impact different species and ecological communities.
Contrasting Approaches in the Implementation of GRADE Methodology in Guidelines for Haemophilia and Von Willebrand Disease
Authors: Skinner Mark W. , Albisetti Manuela , Ardila Jesús , Astermark Jan , Blatny Jan , Carcao Manuel , Chowdary Pratima , Connell Nathan T. , Crato Miguel , Dargaud Yesim , d'Oiron Roseline , Dunn Amy L. , Escobar Miguel A. , Escuriola‐Ettingshausen Carmen , Gouider Emna , Harroche Annie , Hermans Cedric , Jimenez‐Yuste Victor , Kaczmarek Radoslaw , Kenet Gili , Khoo Liane , Klamroth Robert , Langer Florian , Lillicrap David , Mahlangu Johnny , Male Christoph , Matsushita Tadashi , Meunier Sandrine , Miesbach Wolfgang , Nolan Beatrice , Oldenburg Johannes , O'Mahony Brian , Ozelo Margareth , Pierce Glenn F. , Ramos Gloria , Recht Michael , Romero‐Lux Olivia , Rotellini Dawn , Santoro Rita C. , Singleton Tammuella C. , Srivastava Alok , Susen Sophie , Talks Kate , Tran Huyen , Valentino Leonard A. , Windyga Jerzy , Yang Renchi , Mancuso Maria Elisa ,   also on behalf of AICE, AHAD‐AP, AHCDC, ATHN, CLAHT, EHC, French CRH & MHEMO, HTCCNC, NBDF, PEDNET, UKHCDO, WFH
Published: December 2024

ABSTRACTIntroductionThe 2024 ISTH clinical practice guideline (CPG) for treatment of congenital haemophilia, the NBDF‐McMaster Guideline on Care Models for Haemophilia Management, and ASH ISTH NBDF WFH guidelines on the diagnosis and management of VWD all utilised GRADE methodology.AimDiscuss missed opportunities and the methodological approach of the ISTH Guideline in contrast to how GRADE was previously applied in rare diseases.MethodsCritically analyse the methodology of each guideline along with best practices in the use of GRADE. Where applicable, the WFH Guidelines for the Management of Haemophilia were analysed.ResultsImportant differentiating features in applying GRADE were identified. Where a strong evidence base is lacking, data other than those from randomized controlled trials, which may not always be justified, need to be considered, including incorporation of outcomes important to people living with the disease. Justification and stakeholder input to prioritize questions requiring a new guideline, panel composition with necessary patient participation and content expertise were also found to be significant differentiating features.ConclusionThe puristic approach taken in the ISTH Guideline development process, without consideration of accepted adaptations to GRADE implementation, created a missed opportunity for progressing haemophilia care, leading to guideline recommendations that have been widely deemed invalid and obsolete by expert healthcare professionals and by those living with the condition, the very people who are expected to implement or bear the impact of the recommendations. Lessons learnt from this comparative analysis should guide future guideline development and encourage collaboration to further advance haemophilia.
Patient and Public Involvement Work With Parents of Children With Life‐Limiting Conditions and Bereaved Parents: A Rapid Systematic Review
Authors: Holder Pru , Page Bethan , Hackett Julia , Mitchell Sarah , Fraser Lorna K. 
Published: December 2024

ABSTRACTBackgroundGuidance and principles for involving the public in research or service planning exist but are not specific to the needs of parents of children with life‐limiting conditions or bereaved parents.AimReview the evidence on involving parents of children with life‐limiting conditions and bereaved parents in research, service planning and advocacy, and use this to develop best practice guidance.MethodsRapid review following the Cochrane Rapid Reviews Methods Group Guidance. MEDLINE and EMBASE were searched for primary studies of any design and literature/systematic reviews, and grey literature searching was conducted. Sources reporting on involving parents of children with life‐limiting conditions or bereaved parents in healthcare, research, or charity work in any setting, were included. Data were charted using the UK standards for public involvement in research (PPI). Two PPI consultation workshops were conducted with parents (n = 13) and healthcare professionals/charity representatives (n = 7).ResultsSix sources were included. Four reported benefits of parental involvement and two reported burdens. In relation to best practice, two reported on the importance of inclusive opportunities, three on working together, four on support and learning, three on communications, one on impact, and one on governance. PPI consultation workshops highlighted new factors which were not present in the literature around communication and understanding the impact of involvement.ConclusionOrganisations working with this group should consider offering inclusive approaches to improve diversity, levelling power imbalances, ensuring flexibility of approach, and appropriate communication and impact.Patient or Public ContributionThe study was conducted in collaboration with 13 parents of children with life‐limiting conditions and bereaved parents, and seven palliative care professionals. The group were involved at key stages of the review and contributed to the development of the findings and conduct of the review.
More Than Knowledge: Consumer Financial Capability and Saving Behavior
Authors: Núñez‐Letamendia Laura , Sánchez‐Ruiz Patricia , Silva Ana C. 
Published: December 2024

ABSTRACTThis paper explores the association between financial capability, defined broadly through different constituents, and households' savings behavior. Using a survey conducted to a sample of 1501 consumers, the results, correcting for endogeneity, indicate that in order to explain savings behavior: (i) knowledge about investment products (funds, stocks, bonds, etc.) is more important than knowledge about concepts of an economic‐financial nature (simple and compound interest rate, inflation, and diversification); (2) self‐confidence in financial knowledge is more relevant than actual financial knowledge; (3) budgeting skills are strongly relevant; and (4) some of the elements proposed by the Theory of Planned Behavior, in particular control or self‐efficacy, are valid predictors of savings behavior. In sum, a broad conception of financial capability, beyond financial knowledge, is needed to understand savings behavior. Our study has implications for policy decision makers, consumers, and educational and financial institutions and sheds light on future lines of research.
Editor's Highlights—January 2025
Authors: Kemény Lajos 
Published: December 2024

AbstractImmune‐mediated inflammatory skin diseases (IMIDs) frequently result in chronic and debilitating health conditions that significantly diminish patients' quality of life. In the past 10 years, we have seen a huge breakthrough in treating IMIDs by blocking cytokines or cytokine receptors through monoclonal antibodies and by blocking the signaling pathway using Janus kinase (JAK) inhibitors. Nowadays, an increasing number of patients with different immune‐mediated skin diseases are being treated with systemic and topical JAK inhibitors. Dermatologists frequently use these new medications in an off‐label way to treat various skin diseases. Thus, in the January issue of the Journal, we show the efficacy of JAK inhibitors in treating erythema nodosum leprosum, silicone‐induced foreign body reactions in a patient with chronic graft‐versus‐host disease, but also cover the potential side effects of JAK inhibitors in treating skin diseases.