bluuebunny/crossref_metadata_2025 huggingface dataset:
Data from A Tumor-Naïve ctDNA Assay Detects Minimal Residual Disease in Resected Stage II or III Colorectal Cancer and Predicts Recurrence: Subset Analysis from the GALAXY Study in CIRCULATE-Japan
Authors: Nakamura Yoshiaki , Kaneva Kristiyana , Lo Christine , Neems Daniel , Freaney Jonathan E. , Boulos Hala , Hyun Seung Won , Islam Farahnaz , Yamada-Hanff Jason , Driessen Terri M. , Sonnenschein Anne , DeSantis Dana F. , Kotani Daisuke , Watanabe Jun , Kotaka Masahito , Mishima Saori , Bando Hideaki , Yamazaki Kentaro , Taniguchi Hiroya , Takemasa Ichiro , Kato Takeshi , Sangli Chithra , Tell Robert , Blidner Richard , Yoshino Takayuki , Sasser Kate , Oki Eiji , Nimeiri Halla
Published: January 2025

AbstractPurpose:
Analysis of ctDNA may enable early identification of patients likely to relapse, presenting an opportunity for early interventions and improved outcomes. Tumor-naïve plasma-only approaches for minimal residual disease (MRD) assessment accelerate turnaround time, enabling rapid treatment decisions and ongoing surveillance.
Experimental Design:
Plasma samples were obtained from 80 study participants with stage II or III colorectal cancer selected from CIRCULATE-Japan GALAXY. MRD status was assessed using a tumor-naïve ctDNA assay (xM) that integrates methylation and genomic variant data, delivering a binary call. MRD was assessed at 4 weeks postsurgery [landmark time point (LMT)] using methylation and genomic variant data and longitudinally (median, 22.1 months) using only methylation data.
Results:
At LMT, 69/80 study participants were evaluable (36 recurrent; 33 nonrecurrent). Of recurrent study participants, 22/36 had detectable ctDNA (MRD-positive) at LMT and 29/33 nonrecurrent study participants had undetectable ctDNA (MRD-negative), yielding a clinical sensitivity of 61.1% and specificity of 87.9%. Additionally, 74 study participants were evaluable for longitudinal performance with a clinical sensitivity of 83.3% and specificity of 89.5%. The median lead time from the first MRD-positive result to recurrence was 4.77 months overall, and 5.30 months for study participants with no adjuvant treatment. At 12 weeks postsurgery, MRD status strongly correlated with disease-free survival (adjusted HR, 9.69), outperforming carcinoembryonic antigen correlation (HR, 2.13).
Conclusions:
This tumor-naïve MRD assay demonstrated clinically meaningful performance at LMT and longitudinally, accurately predicting clinical recurrence. MRD status was a stronger prognostic biomarker for disease-free survival compared with standard-of-care carcinoembryonic antigen.
p16INK4a / Ki67 dual staining immunocytochemistry to refer women infected by HR-HPV for colposcopy
Authors: von Knebel Doeberitz Magnus
Published: January 2025

Background: Cervical cancer is still a significant global health issue, espacially in low- and middle-income countries. Human papillomavirus (HPV) infection is known to be the primary etiological factor in the development of cervical cancer. The identification of high-risk HPV infections in cervical screening is becoming crucial for early detection and management of cervical pre-neoplasia. However, HPV testing requires triage markers since HR HPV infections are widespread in the target population, of which only a small fraction requires detailed clinical work-up by colposcopy. Summary: p16INK4a is a tumor suppressor protein that has emerged as a promising surrogate marker for HPV infection. In combination with a proliferation marker Ki67 in one diagnostic test kit referred to as CINtecPlus®- or dual stain (DS) it revealed excellent sensitivity and specificity profiles to detect clinically relevant CIN2+ lesions among HPV-infected women in large screening cohorts. Key message: This review examines the role of the cytology CINtecPlus®-test (Dual Stain (DS)-test) as a triage marker to identify patients with CIN2+ lesions among HPV + tested women and summarizes the most recent recommendations for its clinical use.
Contribution of clinical, biological mini-puberty and genetic analysis in 57 46,XY DSD: a monocentric retrospective cohort
Authors: Marie Chloé , Tosca Lucie , Bouligand Jérôme , Ait-Tayeb Abd-El-Kader , Trabado Severine , Houang Muriel , Samara-Boustiani Dinane , Bouvattier Claire
Published: January 2025

Introduction: Differences of sex development (DSD) is a group of rare congenital conditions defined by chromosomal, gonadal and/or phenotypic discordance or atypical sex. The mini-puberty, corresponding to the transient postnatal activation of the hypothalamic-pituitary-gonadal axis, is an important diagnosis window in the clinical workup of infants with DSD. First objective to compare clinical data as well as hormone levels during minipuberty between patients with and without a genetic diagnose. Secondary objectives were to assess the positive predictive value of specific hormone levels at M2 , the mid-point of mini-puberty, of age to differentiate between patients with and without a genetic diagnose by NGS.
Methods: Our study included 57 children with 46,XY DSD born between September 2010 and August 2022 who had results from hormone level measurements during mini-puberty and a next-generation sequencing DSD gene panel. Results: From genetic testing, the diagnostic yield was 49%. Hormone analysis during mini-puberty demonstrated variations in anti-Müllerian hormone, inhibin B, follicle-stimulating hormone and luteinizing hormone levels, with specific patterns observed in certain DSD conditions. Notably, levels of follicle-stimulating hormone >4 IU/L, anti-Müllerian hormone <235 pmol/l, and inhibin B <189 pg/ml at 2 months of life were associated with a higher probability of a genetic diagnose. Conclusion: this study proposes a less invasive diagnostic approach for 46,XY DSD children with palpable gonads at birth, it seems a single blood test around the second month of life for comprehensive analysis.
Predictive Value of ACEF I and II Scores for Postoperative Atrial Fibrillation in Isolated On-Pump Coronary Artery Bypass Grafting Surgery: A Multicenter Retrospective Study
Authors: Alagha Sameh , Mola Serkan , Çeber Mehmet , Yıldırım Alp
Published: January 2025

Objectives: This study evaluated the predictive performance of age, creatinine, and ejection fraction (ACEF) I and II scores for the development of postoperative atrial fibrillation (PoAF) after isolated on-pump coronary artery bypass grafting (CABG) surgery and compared them with a novel nomogram model developed for PoAF prediction.
Subjects and Methods: This retrospective multicenter study involved 511 patients who underwent isolated on-pump CABG. Their ACEF scores were calculated, and multivariate logistic regression analysis was performed to develop a nomogram model. The discriminative performance of the ACEF scores and the novel nomogram model was assessed using the area under the receiver operating characteristic curve (AUC).
Results: Of the 511 patients, 169 (33.1%) developed PoAF. The ACEF I and II scores showed moderate discriminative ability (AUC = 0.642 and 0.647, respectively), with no significant difference between them (p = 0.787). Logistic regression analyses identified age, preoperative hemoglobin levels, emergency procedure, chronic kidney disease or need for dialysis, preoperative beta-blocker use, preoperative angiotensin-converting enzyme inhibitor or angiotensin receptor blocker use, inotrope requirement, postoperative stroke, and postoperative potassium levels as independent predictors of PoAF. The novel nomogram model demonstrated greater predictive ability than the ACEF scores (AUC = 0.742, p < 0.001).
Conclusion: ACEF scores could be helpful risk stratification tools for PoAF after on-pump CABG procedures. Additional validation studies are required to confirm their clinical utility in diverse surgical procedures and patient populations.
Recovery from Atrophic Autoimmune Thyroiditis in a Child: Thyroid Stimulation Blocking Antibody as a Prognostic Marker
Authors: Kusano Chieko , Hori Naoaki , Hasegawa Tomonobu , Narumi Satoshi
Published: January 2025

Introduction: Atrophic autoimmune thyroiditis (AAT) is a form of autoimmune hypothyroidism characterized by the absence of a goiter. Thyroid stimulation blocking antibody (TSBAb) has been detected in a subset of pediatric AAT cases. Although the disappearance of TSBAb has been linked to the recovery of thyroid function in adult AAT cases, similar outcomes have not been documented in pediatric cases.
Case Presentation: A 2-year-old Japanese boy presented for evaluation of stunted growth from age 1 year 10 months. Tests for congenital hypothyroidism were negative on newborn screening, and he had no significant medical history. However, he showed symptoms of hypothyroidism (inactiveness, hair loss, dry skin), and primary hypothyroidism was confirmed by blood test (serum TSH level, 818 mU/L; serum free T4 level, < 0.40 ng/dL). The patient exhibited a unique antibody profile: positive for TSH receptor antibody (TRAb) and TSBAb, and negative for anti-thyroglobulin antibody (TgAb) and anti-peroxidase antibody (TPOAb). He was treated with levothyroxine, after which his growth was normalized. During the 8-year follow-up, the patient’s TSBAb levels decreased, allowing for the discontinuation of levothyroxine therapy.
Conclusion: We reported the case of a 2-year-old boy diagnosed with AAT who presented with a characteristic antibody profile, negative for TgAb and TPOAb, but positive for TRAb and TSBAb. Over 8 years of follow-up, TSBAb seroconversion to negative was observed, leading to treatment discontinuation at age 10 years. This case suggests that monitoring of TSBAb following a diagnosis of AAT may be used to determine treatment discontinuation, even in children.
Advancements in Valproate Therapy for Seizures, Migraines and Bipolar Disorders
Authors: Bairy Laxminarayana Kurady , Madhyastha Sampath
Published: January 2025

Valproate, a widely utilized medication for epilepsy, mood disorders, and migraines, has attracted attention for its potential therapeutic benefits extending beyond its traditional uses. This review article compiles recent findings on the expanded utility of valproate outside of epilepsy, mood disorders, and migraines. The review acknowledges conflicting results, discusses opportunities for future research, and underlines both well-established and lesser-known adverse effects, along with possible interventions to mitigate these side effects. In addition to treating generalized and focal epilepsy, valproate has shown efficacy in managing status epilepticus, migraines, and manic episodes of bipolar disorder in conjunction with lithium. Anticipated as a valuable resource, this review aims to furnish researchers and clinicians with the most current and comprehensive information on the uses of valproate.
Intersectional Dynamics of Race, Ethnicity, and Immigration (ID-REI): Examining Health Outcomes among Black Immigrant Youth through Ethnic-Racial Identity Development and Critical Consciousness
Authors: Gonçalves Carolina , Pinderhughes Ellen E.
Published: January 2025

Despite the rise in racial justice and immigrant rights movements in the United States, the experiences of Black immigrants at the intersection of these movements remain undertheorized. For Black immigrant youth, these experiences—marked by anti-Black racism and xenophobia—can significantly impact psychological well-being and physical health, particularly during adolescence, a crucial period of identity formation and sociopolitical awareness. We propose the Intersectional Dynamics of Race, Ethnicity, and Immigration (ID-REI) theoretical framework that explores how distal (e.g., structural racism, sociopolitical relations between countries) and proximal (e.g., ethnic-racial socialization, family and individual cultural practices) factors related to race, ethnicity, and immigration interact to influence health outcomes through ethnic-racial identity (ERI) development and critical consciousness. The ID-REI theoretical framework emphasizes the unique challenges faced by Black immigrant youth while highlighting the developmental assets of ERI and critical consciousness as protective mechanisms to mitigate adverse mental and physical health outcomes.
Ocorrência de processos fonológicos na formação de blends do português brasileiro
Authors: Braga Emerson Viana , Pacheco Vera
Published: January 2025

A dinamicidade das línguas naturais proporciona que fenômenos linguísticos sejam criados a todo tempo. A morfologia e a fonologia são dois campos que investigam a existência de tais fenômenos. Entre os fenômenos morfológicos ditos não concatenativos (cf. BEVILACQUA; SILVA, 2021), há o blend que cria palavras com supressão segmental e/ou silábica. O processo pode ser formado sem semelhança fônica entre as bases, a exemplo de portunhol (português + espanhol), bem como pode apresentar alguma semelhança, como em carnatal (carnaval + natal). Neste segundo exemplo, as sílabas /na/, presentes em ambas as bases, são idênticas e passam por algum tipo de supressão ou fusão. Essa peculiaridade se parece muito com um processo fonológico conhecido como haplologia que se constitui a partir de duas sílabas contíguas e idênticas (CAMARA JR, 1986) ou similares (BATTISTI, 2005). Sendo, então, blend e haplologia, dois processos que podem incidir sobre a sílaba, levantamos o seguinte questionamento: é possível que os blends possam desencadear processos fonológicos, como a haplologia? Nossa hipótese é a de que determinados blends poderiam apresentar ocorrência da haplologia, quando compartilhassem material fonológico entre si. Objetivamos, portanto, verificar a ocorrência da haplologia na operação morfológica como forma de compreender de que maneira o fenômeno fonológico é acionado nos blends.
Optimizing WRF-Hydro Calibration in the Himalayan Basin: Precipitation Influence and Parameter Sensitivity Analysis
Authors: Dixit Ankur , Sahany Sandeep , Mishra Saroj Kanta , Lehner Flavio
Published: January 2025

Lack of in-situ observations and reliable climate information in large parts of the Himalayas poses significant challenges for assessing water resources vulnerability. Integrated hydrometeorological modeling systems, like WRF-Hydro, have the potential to provide information in such ungauged or poorly observed regions, yet they require careful calibration. Here, we calibrate and assess the fidelity of WRF-Hydro in simulating the hydrological regime of the Beas basin. Selected WRF-Hydro model parameters are calibrated using the Parameter ESTimation (PEST) framework, leveraging eight WRF-Hydro simulations with two meteorological forcings from two WRF realisations. Model calibration improves the accuracy of the basin discharge simulation, however the choice of precipitation forcing is also found to be critically important. The performance of a given WRF-Hydro configuration varies with seasons. We thus propose an ensemble weighting scheme to optimize an intra-annual tradeoff between streamflow under- and overestimation in different WRF-Hydro configurations. This study demonstrate the efficacy of using WRF and WRF-Hydro for providing climate change impact-relevant information in data-sparse basins.
The Landlord State: Land Allocation as a Tool of Industrial Policy in China
Authors: Wilson Saul
Published: January 2025

States routinely intervene in the pricing and allocation of capital and labor when engaging in industrial policy. Drawing on evidence from China, where a landlord state imposed a state monopoly on urban land, this article shows how interventions in the pricing and allocation of land can also be put into the service of industrial policy. Much like other tools of industrial policy, state pricing and allocation of land requires a strong state, manifested through state building efforts to impose control over land resources. In the case of China, these state building efforts spurred a broad growth coalition, spanning local governments, real estate developers, urban homeowners, and ultimately banks and even peri-urban villagers; the political breadth of this growth coalition redirected the landlord state away from its industrial policy origins and toward frenetic real estate investment.
A pre-project planning of a KTP project for social impacts – Challenges and opportunities
Authors: Nghiem AH , Faye S
Published: January 2025

Knowledge Transfer Partnerships (KTPs) foster collaboration between academia, businesses, and graduates, driving innovation. Buckinghamshire New University, despite limited KTP experience, secured funding for a project supporting a charity, marking the Business and Law school’s first KTP project with a focus on social impact. Existing literature often overlooks the pre-project stages, such as funding applications and Associate recruitment. Our study addresses this gap, offering recommendations for future KTP projects with a social impact focus. We explore the funding application process from initial idea development (August 2021) and the challenges of recruiting Associates within the 9-month requirement post-fund approval, leading up to the project’s start (May 2023). The results suggest the potential for a social impact framework for stakeholders during KTP pre-project stages. Even in these early stages, KTPs can contribute to 8 of the 17 ESG goals by leveraging opportunities at each step.
The Impact of Inflation on Stock Market Return: Evidence from China
Authors: Jacob Tom , Malavika Mrs , Raphael Rincy
Published: January 2025

Stocks are often considered a decent hedge against inflation since they tend to move together. This research article examines the long-term relationship between inflation and stock returns in Chinese markets from 2000 to 2021. The stock price is impacted by the consequences of inflation, and this link between the two has long been a source of worry. Investors must understand how the stock market performs in connection to inflation because they anticipate equity markets to provide protection against inflationary consequences. On the relationship between inflation and stock market performance, many theoretical frameworks provide contradictory results. This research aims to pinpoint the precise impact of inflation on stock market performance. The consumer price index (CPI), which measures inflation in this research, is the independent variable, and the stock index, which measures stock market returns, is the dependent variable. The Auto Regressive Distributed Lag (ARDL) model and its accompanying Error Correction Models are used to calculate the long- and short-run correlations between Chinese stock market returns and inflation. The empirical findings indicate that there is a considerable positive long-run link between market returns and inflation. This means the price of the stock should rise along with the general prices of inflation. The relationship between inflation rate and stock market return has been examined by several financial economists around the world. However, this relationship has not been investigated widely in China.
Protective and Risk Factors for Campus Dating and Sexual Violence at Non-Traditional Academic Institutions: A Scoping Literature Review
Authors: O’Connor Julia , Voth Schrag Rachel , Woerner Jacqueline , Backes Bethany , Hybl Margaret , Garib Widad
Published: January 2025

Despite a plethora of research examining campus dating and sexual violence (DSV) risk and protective factors, little of this research has been conducted at non-traditional institutions such as minority-serving institutions (MSIs), community colleges, or non-predominantly white institutions. A review of research on statistically significant protective and risk factors for campus perpetration or victimization at non-traditional institutions resulted in 12 articles. The inclusion criteria for the study were that the article was in English, in a peer-reviewed journal, and published between 2010 and 2021. Keyword searches identified 1,160 articles on campus DSV, which were then screened to ensure the quantitative research was conducted at a non-traditional institution. Significant perpetration and victimization factors, characteristics of the samples and institutions of these studies, and the research design were extracted. Few studies included in the review investigated DSV at MSIs, commuter campuses, or community colleges. Also, studies more commonly examined victimization, risk factors, and sexual violence, as opposed to perpetration, protective factors, or dating violence. Cross-cutting factors for both dating and sexual violence included alcohol and drug use, demographics, and prior abuse. Cross-cutting factors for both victimization and perpetration included personality characteristics, alcohol and drug use, demographics, and history of abuse. Future research should investigate DSV at non-traditional institutions to increase our understanding of risk and protective factors at these rarely studied institutions.
Outcome and complications in postcardiotomy cardiogenic shock treated with extracorporeal life support – a systematic review and meta-analysis
Authors: Kienlein Romana Maria , Trauzeddel Ralf Felix , Akbari Nilufar , Avalli Leonello , Biancari Fausto , Dini Carlotta Sorini , Guenther Sabina , Hagl Christian , Heringlake Matthias , Kruppa Jochen , Mäkikallio Timo , Martins Raphael , de Chambrun Marc Pineton , Rastan Ardawan Julian , Rubino Antonio , van den Brink Floris , Nordine Michael , Treskatsch Sascha
Published: January 2025

Background

Postcardiotomy cardiogenic shock (PCCS) in cardiac surgery is associated with a high rate of morbidity and mortality. Beside other therapeutic measures (e.g. intraaortic balloon pump (IABP)), extracorporeal life support is being increasingly used in this particular form of shock. Objectives of this meta-analysis were to determine mortality and complications of extracorporeal life support treatment (ECLS) in cardiac surgery patients, and if outcomes were influenced by a preexisting cardiovascular risk profile.

Methods

MEDLINE and EMBASE were searched for studies in English, published between January 1st 2000 and January 16th 2023, reporting mortality and morbidity in patients aged ≥ 18 treated with ECLS for PCCS. Supplementary data were requested from the respective corresponding authors. Outcomes were weaning from extracorporeal life support, hospital survival and complications.

Results

Two thousand, seven hundred seventy-four papers were screened, of which 132 full text articles were assessed for suitability. 70 remaining studies were included for further evaluation and data analysis. Five studies could be included in the final analysis since the corresponding authors provided additional necessary information. Successful weaning from extracorporeal life support was accomplished in 52.8% (30.8%—57.4%) and 31.1% were discharged alive (mortality of 25.0 – 56.2% after weaning). 95.1% of all treated patients suffered from at least one complication. Diabetes mellitus and obesity seem to be independent risk factors for poor outcome.

Conclusions

Extracorporeal life support for PCCS is associated with a substantial mortality and complication rate. Diabetes mellitus and obesity seem to be independent risk factors. Therefore, until future work has elucidated which patients benefit at all, the risks of ECLS-treatment must be critically weighed up against a possible benefit.
Development of a clinical prediction model for benign and malignant pulmonary nodules with a CTR ≥ 50% utilizing artificial intelligence-driven radiomics analysis
Authors: Shi Wensong , Hu Yuzhui , Chang Guotao , Qian He , Yang Yulun , Song Yinsen , Wei Zhengpan , Gao Liang , Yi Hang , Wu Sikai , Wang Kun , Huo Huandong , Wang Shuaibo , Mao Yousheng , Ai Siyuan , Zhao Liang , Li Xiangnan , Zheng Huiyu
Published: January 2025

Objective

In clinical practice, diagnosing the benignity and malignancy of solid-component-predominant pulmonary nodules is challenging, especially when 3D consolidation-to-tumor ratio (CTR) ≥ 50%, as malignant ones are more invasive. This study aims to develop and validate an AI-driven radiomics prediction model for such nodules to enhance diagnostic accuracy.

Methods

Data of 2,591 pulmonary nodules from five medical centers (Zhengzhou People’s Hospital, etc.) were collected. Applying exclusion criteria, 370 nodules (78 benign, 292 malignant) with 3D CTR ≥ 50% were selected and randomly split 7:3 into training and validation cohorts. Using R programming, Lasso regression with 10-fold cross-validation filtered features, followed by univariate and multivariate logistic regression to construct the model. Its efficacy was evaluated by ROC, DCA curves and calibration plots.

Results

Lasso regression picked 18 non-zero coefficients from 108 features. Three significant factors—patient age, solid component volume and mean CT value—were identified. The logistic regression equation was formulated. In the training set, the ROC AUC was 0.721 (95%CI: 0.642–0.801); in the validation set, AUC was 0.757 (95%CI: 0.632–0.881), showing the model’s stability and predictive ability.

Conclusion

The model has moderate accuracy in differentiating benign from malignant 3D CTR ≥ 50% nodules, holding clinical potential. Future efforts could explore more to improve its precision and value.

Clinical trial number

Not applicable.
Association of clinical knowledge with patient care ownership among resident physicians: a nationwide cross-sectional study in Japan
Authors: Fujikawa Hirohisa , Tamune Hidetaka , Nishizaki Yuji , Shimizu Taro , Yamamoto Yu , Shikino Kiyoshi , Sekine Miwa , Kobayashi Hiroyuki , Tokuda Yasuharu
Published: January 2025

Purpose

Both clinical knowledge and patient care ownership (PCO) are crucial to the provision of quality patient care and should be acquired during training. However, the association between these two concepts is under-examined. Here, we conducted a nationwide cross-sectional study to investigate the association between clinical knowledge and PCO among resident physicians in Japan.

Methods

From January 17 to March 31, 2024, we conducted an anonymous, online, self-administered survey for a series of PCO research projects. The survey targeted medical residents who took the General Medicine In-Training Examination (GM-ITE). The mean of the Japanese version of the PCO Scale was used as outcome variable. The primary explanatory variable was total GM-ITE score, while the secondary explanatory variables were GM-ITE category scores in medical knowledge. We conducted multivariable linear regression analysis, controlling for postgraduate years, sex, number of assigned inpatients, weekly working hours, type of hospital, and size of hospital.

Results

We included 1836 participants in our statistical analysis. Multivariable linear regression analysis revealed that after adjustment for possible confounders, GM-ITE total scores showed a significantly negative association with PCO in the highest score quartile (adjusted mean difference − 0.20, 95% confidence interval (CI) -0.33 to -0.07, compared with the lowest score quartile). Additionally, after controlling for possible confounding factors, scores for symptomatology and clinical reasoning showed a dose-dependent negative association with PCO (adjusted mean difference − 0.17, 95% CI -0.30 to -0.03 for the highest score quartile compared with the lowest score quartile). No significant dose-dependent associations were found for the other categories.

Conclusions

These findings suggest the presence of potential challenges in the simultaneous fostering of clinical knowledge and PCO during residency training. This underscores the need for educators to actively engage in the reconsideration of current postgraduate training strategies, with the aim of effectively cultivating both clinical knowledge and PCO among medical residents.
Evaluation of plasma cell sorting methods in multiple myeloma patients: flow cytometry versus magnetic beads
Authors: Choi Yu Jeong , Choi Jaeguk , Kang Yehyun , Shin Saeam , Lee Seung-Tae , Choi Jong Rak
Published: January 2025

Background

The prognosis of a plasma cell neoplasm (PCN) varies depending on the presence of genetic abnormalities. However, detecting sensitive genetic mutations poses challenges due to the heterogeneous nature of the cell population in bone marrow aspiration. The established gold standard for cell sorting is fluorescence-activated cell sorting (FACS), which is associated with lengthy processing times, substantial cell quantities, and expensive equipment. Magnetic-activated cell sorting (MACS) can be performed without the need for FACS equipment and allows for rapid sorting of many cells, making it a practical alternative. Our objective is to conduct a comparative analysis of these two sorting techniques to assess whether MACS can viably replace FACS in clinical applications.

Methods

Plasma cell purity, fluorescence in situ hybridization (FISH), and next-generation sequencing analyses were performed on FACS- and MACS-sorted bone marrow samples from 31 PCN patients.

Results

The MACS-sorted samples yielded a higher percentage of plasma cells than FACS-sorted samples under microscopy (p = 0.0156) and flow cytometry (p = 0.0313). FISH performed by two methods in 10 samples showed the same results, and the proportion of abnormal cells was significantly higher in MACS than in FACS (p = 0.001). Wilcoxon matched-pairs signed rank test analysis showed that the median of differences of variant allele frequency (VAF) of two methods (VAF of MACS minus VAF of FACS) in the DNMT3A, TET2, and ASXL1 (DTA) group was − 0.006555 (p = 0.0020), while that in the non-DTA group was 0.002805 (p = 0.0019). Ten copy number variants (CNVs) were found in both FACS- and MACS-sorted samples, eight were identified only in MACS-sorted samples, and one was detected only in FACS-sorted samples.

Conclusion

Our study demonstrates that MACS is a viable alternative for plasma cell sorting in bone marrow samples of patients with PCN.
Cardiovascular risk profiling among South Asian adults in Hong Kong: a latent class analysis
Authors: Chung Gary Ka-Ki , Lee Woohyung , Vargas Danna Camille , Sharma Bulbul , Sun Kai Sing , Hung Heidi , Tong Lee Sha , Tang Tsz Lui , Munir Hasiba , Wong Chi Yui , Pun Soniya , Chio Man Hin , Wong Eliza Lai-Yi , Dong Dong , Yeoh Eng-Kiong
Published: January 2025

Background

South Asians living in urbanized settings are facing disproportionate cardiovascular burden largely attributable to modifiable risk factors. Given the rapid surge in South Asian population in Hong Kong, this study aims to identify and distinguish clusters of cardiovascular risk profiles among community-dwelling South Asian adults.

Methods

Between June 2022 and December 2023, 1181 South Asian adults were recruited through territory-wide outreach health assessments on lifestyle, psychological distress, obesity, clinical cardiovascular conditions, and sociodemographic factors. Latent class analysis was performed to classify the cardiovascular profiles, followed by multinomial logistic regression to identify the sociodemographic characteristics across classes.

Results

Five latent classes were identified: low risk (19.6%), lifestyle risk plus distress (8.9%), obesity risk (33.4%), lifestyle risk plus distress with obesity (26.6%), and high clinical risk (11.4%). Apart from the higher clinical risk in older adults, women tended to cluster into classes with obesity, while men and the economically active were more likely in classes with poorer lifestyles and stress. Pakistani and Nepalese consistently exhibited higher risks compared to Indians, whereas the less educated tended to cluster into the high clinical risk class.

Conclusion

This study revealed distinct cardiovascular risk patterns and sociodemographic features within the South Asian community in Hong Kong. The heavy burden on obesity especially in women, lifestyle and psychological risks especially in men, and low overall physical activity level may be translated into a tremendous cardiovascular disease burden in the forthcoming decades, in particular among Pakistani and Nepalese as well as the socioeconomically disadvantaged.
Tumour DNA methylation markers associated with breast cancer survival: a replication study
Authors: Zarean Elaheh , Li Shuai , Wong Ee Ming , Makalic Enes , Milne Roger L. , Giles Graham G. , McLean Catriona , Southey Melissa C. , Dugué Pierre-Antoine
Published: January 2025

Background

Tumour DNA methylation has been investigated as a potential marker for breast cancer survival, but findings often lack replication across studies.

Methods

This study sought to replicate previously reported associations for individual CpG sites and multi-CpG signatures using an Australian sample of 425 women with breast cancer from the Melbourne Collaborative Cohort Study (MCCS). Candidate methylation sites (N = 22) and signatures (N = 3) potentially associated with breast cancer survival were identified from five prior studies that used The Cancer Genome Atlas (TCGA) methylation dataset, which shares key characteristics with the MCCS: comparable sample size, tissue type (formalin-fixed paraffin-embedded; FFPE), technology (Illumina HumanMethylation450 array), and participant characteristics (age, ancestry, and disease subtype and severity). Cox proportional hazard regression analyses were conducted to assess associations between these markers and both breast cancer-specific survival and overall survival, adjusting for relevant participant characteristics.

Results

Our findings revealed partial replication for both individual CpG sites (9 out of 22) and multi-CpG signatures (2 out of 3). These associations were maintained after adjustment for participant characteristics and were stronger for breast cancer-specific mortality than for overall mortality. In fully-adjusted models, strong associations were observed for a CpG in PRAC2 (per standard deviation [SD], HR = 1.67, 95%CI: 1.24–2.25) and a signature based on 28 CpGs developed using elastic net (per SD, HR = 1.48, 95%CI: 1.09–2.00).

Conclusions

While further studies are needed to confirm and expand on these findings, our study suggests that DNA methylation markers hold promise for improving breast cancer prognostication.
Maternal smoking during infancy increases the risk of allergic diseases in children: a nationwide longitudinal survey in Japan
Authors: Shigehara Kenji , Matsumoto Naomi , Tsuge Mitsuru , Uda Kazuhiro , Saito Yukie , Yashiro Masato , Yorifuji Takashi , Ikeda Masanori , Tsukahara Hirokazu
Published: January 2025

Background

The incidence of allergic diseases has been increasing in Japan. In particular, a serious decline in the age of onset of allergic rhinitis has been observed. Passive smoking from parental smoking has a significant impact on children’s health; however, it is difficult to restrict smoking in the home. While various studies have previously reported on the relationship between passive smoking and the development of allergic diseases in children. However, there have been no reports on passive smoking and allergic diseases on a national scale.

Methods

Using Japanese national longitudinal survey data (n = 38,444) for newborns born between May 10 and 24, 2010, we assessed parental smoking habits when their children were 6 months old and investigated the association with the development of allergic diseases until the age of 5.5 years. The risk ratios and 95% confidence intervals for the development of different allergic diseases were analyzed after adjusting for potential confounders using Poisson regression with a robust error variance.

Results

The risk ratio for developing allergic rhinitis/allergic conjunctivitis (AR/AC) in children was significantly higher in the maternal smoking groups ( ≦ 10 cigarettes/day; RR 1.15, 95% CI 1.02–1.30; ≧11 cigarettes/day; RR 1.16, 95% CI 0.93–1.44). Furthermore, associations were found between the maternal smoking group in the presence of paternal smoking and the risk of developing bronchial asthma ( ≦ 10, RR 1.33 95% CI 1.17–1.52; ≧11, RR 1.71 95% CI 1.38–2.1), food allergy ( ≦ 10, RR 1.36 95% CI 1.12–1.63; ≧11, RR 1.25 95% CI 0.84–1.86), atopic dermatitis ( ≦ 10, RR 1.42 95% CI 1.22–1.66; ≧11, RR 1.6 95% CI 1.2–2.13), and AR/AC ( ≦ 10, RR 1.21 95% CI 1.07–1.36; ≧11, RR 1.35 95% CI 1.09–1.67).

Conclusions

Maternal smoking during infancy increases the risk of developing AR/AC in children. Considering paternal smoking, maternal smoking further increased the risk of developing allergic diseases in children, suggesting that reducing parental smoking at home may reduce the risk of developing allergic diseases in children.
Chemical space as a unifying theme for chemistry
Authors: Reymond Jean-Louis
Published: January 2025

Chemistry has diversified from a basic understanding of the elements to studying millions of highly diverse molecules and materials, which together are conceptualized as the chemical space. A map of this chemical space where distances represent similarities between compounds can represent the mutual relationships between different subfields of chemistry and help the discipline to be viewed and understood globally.
Identification of a pathogenic NHLRC1 variant in a consanguineous Pakistani family affected with severe and rapidly progressive Lafora disease
Authors: Aslam Zain , Zubaida Bibi , Khan Ranjha , Badshah Mazhar , Naeem Muhammad
Published: January 2025

Background

Autosomal recessively inherited progressive myoclonic epilepsy of Lafora, which is also known as Lafora disease, is a fatal neurodegenerative disorder. It affects individuals in late childhood or early adolescence and presents with symptoms of progressive mental and physical deterioration. This disease is caused by pathogenic genetic variants in either of two genes: EPM2A on chromosome 6q24, encoding laforin, or NHLRC1 (EPM2B) on chromosome 6p22, encoding malin.

Case presentation

In this study, we report a clinical and molecular investigation of Lafora disease segregating in a consanguineous Pakistani family. The proband presented with symptoms of rapidly progressive myoclonic epilepsy, but laboratory studies were negative for Lafora bodies and ragged red fibres. Sanger DNA sequencing of the genomic DNA of the proband for EPM2A and NHLRC1 identified a previously reported pathogenic nonsense variant in NHLRC1 (NM_198586.3:c.793C > T), which encodes the E3 ubiquitin ligase called malin. The NHLRC1 variant was found in a homozygous state in the proband, predicting a premature stop codon at position 265 (NP_940988.2:p.Arg265Ter). If the mRNA escaped nonsense-mediated decay, it would result in a truncated protein lacking 130 amino acids, including three NHL (NCL-1, HT2A, LIN-41) repeats.

Conclusions

Our study emphasizes the role of molecular genetic testing in patients presenting with symptoms of progressive myoclonic epilepsy.
Focus on the Forgotten Organelle: Regulation of Lysosomes in Skeletal Muscle
Authors: Moradi Neushaw , Kuznyetsova Anastasiya , Sanfrancesco Victoria C. , Champsi Sabrina , Hood David A.
Published: January 2025

Research on the role of the lysosome as the terminal organelle in autophagy and in communicating with other organelles in skeletal muscle is in its infancy. We hypothesize that the lysosome can adapt positively to exercise to improve the clearance of cargo, like dysfunctional mitochondria, within muscle, representing an important therapy for protein homeostasis in aging and muscle disuse.
To Εκπαιδευτικό Ντοκιμαντέρ 'Εκεί που ανθίζουν και τ' αγκάθια' ως εκπαιδευτικό εργαλείο για την κατανόηση του φαινομένου της συμπερίληψης στην εκπαίδευση
Authors: Αρκουμάνης Γρηγόριος , Καλύβα Άρτεμις , Πρωτούλη-Καραπατάκη Σοφία , Σοφός Αλιβίζος (Λοΐζος)
Published: January 2025

Το ντοκιμαντέρ "Εκεί που ανθίζουν και τα αγκάθια" ασχολείται με την εκπαιδευτική λειτουργία και τις προοπτικές του σχολείου στο Ειδικό Κατάστημα Κράτησης Νέων Αυλώνα (ΕΚΚΝΑ). Μέσα από αφηγήσεις και στατιστικά στοιχεία, αναδεικνύει την επίδραση της εκπαίδευσης στους ανήλικους κρατούμενους, προσφέροντας τους μια δεύτερη ευκαιρία για προσωπική ανάπτυξη και κοινωνική επανένταξη. Το σχολείο λειτουργεί ως μέσο ενίσχυσης της αυτοεκτίμησης και προσφέρει σημαντικές γνώσεις και δεξιότητες, ενώ οι δάσκαλοι υποστηρίζουν συναισθηματικά και ψυχολογικά τους μαθητές. Παρουσιάζεται η συμβολή της εκπαίδευσης στη μείωση της προκατάληψης και του κοινωνικού στιγματισμού, ενθαρρύνοντας θετικές επιλογές στη ζωή των νέων. Στο ντοκιμαντέρ, περιγράφονται επίσης σημαντικές εκπαιδευτικές δράσεις, όπως η εφημερίδα και το κανάλι που διαχειρίζονται οι ίδιοι οι κρατούμενοι, ενώ προβάλλονται οι προκλήσεις και οι δυνατότητες της εκπαιδευτικής διαδικασίας. Συνολικά, αναδεικνύεται η σημασία της εκπαίδευσης για την κοινωνική ενσωμάτωση και την αποτροπή της νεανικής παραβατικότητας.
Impact of public health expenditure on malnutrition among Peruvians during the period 2010-2020: A panel data analysis
Authors: Castro Mejía Percy Junior , Morán Santamaría Rogger Orlando , Llonto Caicedo Yefferson , Cúneo Fernández Francisco Eduardo , Lizana Guevara Nikolays Pedro , Pérez Pérez Milagros Judith , Vela Meléndez Lindon
Published: January 2025

Background The study analyzes the impact of public health spending on malnutrition among Peruvians, using data from the National Household Survey, the Central Reserve Bank of Peru, the National Institute of Statistics and Informatics and the Ministry of Economy and Finance from 2010. -2020. Previous studies have revealed the existing relationship of health spending with the reduction of malnutrition. Methods A quantitative approach is considered, with an explanatory type of research using panel data methodology considering the bidimensionality of the data, which allows quantifying this effect for the Peruvian case using the National Household Survey, data from the Central Reserve Bank of Peru, as well as information from the National Institute of Statistics and Informatics and the Transparency Portal of the Ministry of Economy and Finance in the period 2010-2020. Results The results show that public expenditure on health has a negative relationship with malnutrition; the rural sector has a positive relationship with malnutrition given the limitations present for access to adequate food. Similarly, the unemployment rate shows a positive relationship with malnutrition, given that being unemployed leads to a higher cause of malnutrition in the population, and the gross domestic product has a negative relationship with malnutrition, given that greater economic growth produces an impact on reducing malnutrition, with the greatest impact being on the rural population and the gross domestic product. Conclusions In the analysis period 2010-2020 in Peru, based on the panel data analysis, the impact of public health expenditure on reducing malnutrition is observed in 10 departments, achieving a reduction in malnutrition; while in 14 departments, this indicator has not been reduced.
Theological Aspects of Service in the Fire Brigade
Authors: Lisica Jarosław
Published: January 2025

The article explores the theological aspects of firefighting service, highlighting its interdisciplinary nature. While the work of a firefighter is dominated by technical and emergency response factors, it also involves numerous moral, ethical, and spiritual challenges. The theological foundations of this profession are discussed, along with practical theological aspects related to coping with trauma and stress and to community building. The article also addresses contemporary challenges, such as ethical dilemmas and the role of chaplains. The conclusions emphasize the need for further reflection and research on the theological challenges involved in the work of firefighters to better support them in this responsible mission.
A Study of Large-Scale Auxiliary Cadence Types in Songs of Schubert, Brahms and Berg
Authors:   , Wang He
Published: January 2025

Heinrich Schenker's concept of the auxiliary cadence can be considered as a middleground manifestation of the Ursatz; his definition of the auxiliary cadence caters only to tonal compositions with a single background tonic, such as Brahms's songs. However, there exist compositions in which the a single background tonic cannot be easily ascertained. Such unorthodox compositions, in fact, can be found even prior to Brahms's songs. In such cases, although the opening and closing tonics are different and are often categorized as large-scale auxiliary cadence structured compositions, they do not operate within the single-tonic based tonal paradigm upon which Schenker formed his idea of the auxiliary cadence. Such compositions may be approached as a novel type of auxiliary cadence and described as "process-driven." The thesis presents and contrasts examples of both types of auxiliary cadences in songs by Schubert, Brahms, and Berg.
An Exploration of Impostor Phenomenon among African American Women in Educational Leadership Roles
Authors:   , Dumas Simonè Marquise
Published: January 2025

African American women in educational leadership roles face a myriad of barriers and challenges. Black feminist theory and impostor phenomenon theory offered a potent conceptual lens for understanding the experiences of successful African American women. A qualitative phenomenological study was conducted to examine and explore strategies that African American women use to (a) navigate the impostor phenomenon in relation to career mobility, and (b) identify and understand how social constructs in educational leadership organizations can contribute to their experiences. The research also examined the historical and contemporary problems of subjugation, oppression, racism, and sexism as narrated by 12 African American women who are in educational leadership roles. Data collected from the participants were triangulated and analyzed thematically resulting in six themes: (1) experiences of being questioned and undermined by superiors; (2) experiences of other people's perceptions about African American female leaders; (3) the need for a mentor; (4) giving others a chance to question them; (5) intentional self-care; and (6) lack of support from leaders and mentors. It is recommended that those who work within the education systems focus on acquiring an understanding of the internal struggles African American women navigate in response to systemic, external challenges, so they can better support these women in terms of career mobility and give more attention to retaining them in educational leadership roles.
Ecología política del turismo, memoria socio-ecológica y novela gráfica: Todo bajo el sol de ana Penyas
Authors: Prádanos Luis I.
Published: January 2025

Resumen: La mayoría de las contribuciones sobre estudios culturales del turismo, al centrarse en las consecuencias discursivas, identitarias, políticas y culturales del sector turístico, tienden a pasar por alto el metabolismo masivo de esta industria, es decir, los flujos de materiales y energía movilizados por la actividad turística y las drásticas transformaciones ecológicas derivadas de los cambios en los usos del suelo. Así, un foco demasiado centrado en discursos identitarios corre el riesgo tanto de caer en un nacionalismo (o regionalismo) metodológico para analizar un fenómeno de carácter global como de dejar fuera del radar los conflictos ecológicos específicos causados por dichas transformaciones y la manera diferencial en la que estos conflictos afectan a diferentes grupos sociales. Los conflictos socioambientales causados por el metabolismo turístico transnacional son precisamente el foco de estudio de la ecología política del turismo. Este ensayo invita a los estudios culturales españoles sobre el turismo a tener en cuenta las investigaciones sobre ecología política. Todo bajo el sol (2021), novela gráfica de Ana Penyas, ejemplifica claramente la simultánea corrosión social y ecológica causada por la expansión metabólica del turismo en un pueblo valenciano. Esta correlación entre degradación social y ecológica es, precisamente, el centro de la crítica de la ecología política. La novela gráfica española de la última década ha servido de vehículo para criticar dos aspectos importantes a la hora de entender la situación presente: el neoliberalismo y la memoria histórica. Lo que faltaba era conectar estos dos aspectos con la ecología política del turismo en el contexto de la península ibérica. Es precisamente la triangulación magistral de estos tres factores lo que la novela gráfica de Penyas nos ofrece.