bluuebunny/crossref_metadata_2025_split huggingface dataset:
Epidemiology of inherited metabolic disorders in newborn screening: insights from three years of experience in Southern Iran
Authors: Salarian Leila , Ilkhanipoor Homa , Amirhakimi Anis , Afshar Zhila , Nahid Saman , Moradi Ardekani Fariba , Rahimi Nazila , Yazdani Negar , Nikravesh Abdolhossein , Beyzaei Zahra , Moravej Hossein 
Published: February 2025

Abstract

Background
Newborn screening is essential for the early detection of congenital genetic and metabolic disorders, enabling timely intervention to prevent morbidity, mortality, and disabilities associated with inherited metabolic disorders (IMDs). The Iranian Neonatal Screening Program piloted in Fars Province, screening nearly 100% of neonates for 20 disorders. This study aimed to assess the epidemiology of these metabolic diseases. From March 2019 to September 2021, 138,689 neonates were screened using tandem mass spectrometry (MS/MS) on dried blood spots. Those with abnormal results were referred to pediatric endocrinology and metabolism specialists for confirmatory testing per American College of Medical Genetics guidelines.

Results
Among the screened neonates, 139 patients of IMDs were identified, yielding an estimated birth prevalence of 1:1000. The positive cases included 55 aminoacidopathies, 47 organic acidemias, 31 fatty acid oxidation disorders, and 6 urea cycle defects were detected. The most prevalent IMDs were phenylalanine metabolism disorders, short-chain acyl-CoA dehydrogenase deficiency, 3-methylcrotonyl-CoA carboxylase deficiency, and methylmalonic acidemia. Notably, the prevalence of IMDs in Fars Province is significantly higher than average global statistics. Additionally, we observed that certain disorders previously deemed very rare exhibit a relatively high prevalence in this region.

Conclusions
Our data highlight the efficiency and robustness of neonatal screening for IMD in Iran. It demonstrates the need for expanded screening efforts across the entire country. One limitation of this study is that the screening was conducted in only one state, which may not reflect the broader population of Iran. Future research should involve nationwide implementation of screening programs to validate our findings and assess the prevalence of IMDs in diverse regions. Furthermore, exploring the applicability of our screening methods in other Middle Eastern countries could help promote early and life-changing diagnoses across the region.
PDG-Arena: an ecophysiological model for characterizing tree-tree interactions in heterogeneous and mixed stands
Authors: Rouet Camille , Davi Hendrik , Druel Arsène , Fady Bruno , Morin Xavier 
Published: February 2025

Abstract

Key message
PDG-Arena, a new individual- and process-based ecophysiological model, was developed to simulate the functioning of mixed-species forests. It was evaluated using annual growth data on beech-fir stands of the French Prealps.

Context
In the context of the ongoing climate and biodiversity crises, mixed forest stands are increasingly considered as a sustainable management alternative to monospecific and even-aged stands.

Aims
We developed a new individual- and process-based forest growth model, PDG-Arena, to simulate mixed forest growth and functioning, and test ecophysiological interactions among trees in mixed stands.

Methods
The model builds upon the validated ecophysiological stand-scale model CASTANEA and integrates tree competition for light and water. We evaluated the performance of PDG-Arena by comparing the simulated growth with annual radial growth data from 37 common beech and silver fir monospecific and mixed plots in the French Prealps.

Results
PDG-Arena performed slightly better than CASTANEA when simulating even-age and monospecific forests (r
2 of 32.1 versus 29.5%). When using structure-diverse and species-diverse inventories, PDG-Arena performed better than CASTANEA in pure beech (38.3 versus 22.9%) and mixed stands (40.5 versus 36.3%), but not in pure fir stands (39.8 versus 42.0%). The new model also showed a significant positive effect of species mixing on gross primary production (+ 5.5%), canopy absorbance (+ 11.1%), and transpiration (+ 15.8%) in the tested stands.

Conclusions
Our results show that tree-level process-based models such as PDG-Arena, formally simulating interspecific interactions, can serve as a valuable tool to understand and simulate the carbon, radiative, and water dynamics of mixed stands.
Molecular profiling of skin cells identifies distinct cellular signatures in radiation-induced skin injury across various stages in the murine dataset
Authors: Yu Hongxuan , Zhong Tao , Xu Ying , Zhang Zengfu , Ma Jiachun , Yuan Jupeng , Wang Minglei , Wu Meng , Yu Jinming , Ma Yuequn , Chen Dawei 
Published: February 2025

Abstract

Background
Radiation-induced skin injury (RISI) commonly manifests in cancer patients undergoing radiotherapy (RT). However, a universally accepted standard for treating radiation injury has not yet been established. Our objective was to provide a detailed molecular overview of skin pre- and post-radiation therapy, aiming to enhance our understanding of the subclusters and molecular mechanisms contributing to radiodermatitis.

Methods
C57BL/6 mice were subjected to a single fraction (20 Gy) of RT targeting the right dorsal skin. We then employed integrated single-cell RNA sequencing (scRNA-seq) to analyze skin samples from mice at 7 and 30 days after radiation exposure, as well as from non-irradiated mice. The Seurat analysis pipeline, Cellchat, SCP, and ssGSEA were used to define the cell types and mechanisms involved in radiation-induced skin injury. Reverse transcription polymerase chain reaction (RT-PCR), multiplex immunofluorescent staining, and other datasets (GSE130183, GSE193564, and GSE193807) were used to validate our findings.

Results
Thirty-two distinct cell clusters encompassing 71,412 cells were identified. We discovered that cycling keratinocytes (KCs), with the BMP signaling pathway enriched, could activate the Wnt pathway, as well as the SMAD pathways, driving the wound healing and fibrosis processes in RISI. Terminally differentiated secretory-papillary fibroblasts (Fibs) are capable of attracting immune cells, which contributes to the pathogenesis of RISI. Lymphatic endothelial cells (ECs) with pro-inflammatory properties play a critical role in the pathogenesis of RISI by facilitating leukocyte migration. Our analysis also highlighted enhanced ligand-receptor interactions, notably the interactions between chemokines like CXCL10, CCL2, and ACKR1, across subclusters of inflammatory KCs, Fibs, ECs, and immune cells, underscoring their pivotal role in leukocyte recruitment in RISI.

Conclusions
Cycling KCs, secretory-papillary Fibs, and lymphatic ECs play critical roles in RISI progression. Targeting the interactions of these subclusters with immune cells might help improve the severity of RISI. Furthermore, our study provides a valuable resource for understanding the interactions among immune cells in the context of RISI.

Graphical Abstract
Glutathione peroxidase 4 (GPX4) and obesity interact to impact tumor progression and treatment response in triple negative breast cancer
Authors: Devericks Emily N. , Brosnan Bennett H. , Ho Alyssa N. , Glenny Elaine M. , Malian Hannah M. , Teegarden Dorothy , Wendt Michael K. , Coleman Michael F. , Hursting Stephen D. 
Published: February 2025

Abstract

Introduction
Triple-negative breast cancer (TNBC), which tends to be more advanced when diagnosed and more aggressive than other breast cancer subtypes, is accelerated by obesity. Hypertrophic adipocytes and cancer cells exhibit increased oxidative stress and altered redox homeostasis, influencing therapeutic outcomes. Enzymes implicated in both redox regulation and TNBC include glutathione peroxidase 4 (GPX4; reduces lipid peroxides) and pyruvate carboxylase (PC; essential in oxidative stress protection). Using preclinical models, we characterized interactions between GPX4, PC, and oxidative stress in TNBC cells, and established effects of GPX4 suppression on TNBC progression. In TNBC cells, PC knockdown increased GPX4 expression, while GPX4 knockdown increased PC expression. GPX4 inhibition by erastin or RSL3 enhanced TNBC cell death in vitro, and antioxidants mitigated the cytotoxicity. In obese mice, GPX4 knockdown, versus scramble control: (i) reduced tumor burden following orthotopic transplantation of TNBC cells; and (ii) reduced lung metastasis following tail vein injection of TNBC cells in combination with chemotherapy (carboplatin) but not immunotherapy (anti-CTLA4 plus anti-PD1). We conclude that GPX4 and PC expression are inversely related in TNBC cells, and GPX4 and obesity interact to impact TNBC progression and treatment responses. Moreover, GPX4-mediated redox defense, alone or in combination with chemotherapy, is a targetable vulnerability for treating TNBC, including obesity-related TNBC.

Implication
GPX4 suppression, alone or with current TNBC therapies, impacts outcomes in preclinical TNBC models with or without obesity and offers a new, plausible mechanistic target for TNBC treatment.
Survivorship clinic attendance improves completion but not timeliness of cardiac surveillance post anthracyclines
Authors: Forbes Zac , Dunmall Tegan , Tey Amanda , Culligan Dominic , Fedele Pasquale L. 
Published: February 2025

Abstract

Background
Anthracycline induced cardiomyopathy (AIC) is an important complication of cancer management. Recent findings showed that with early identification and intervention, AIC may be fully or partially reversible. European society of cardiology (ESC) guidelines recommend a risk-stratified monitoring approach, including transthoracic echocardiogram (TTE) for all patients within 12 months post-treatment.

Aim
Investigate the impact of a survivorship clinic on TTE follow up for AIC.

Methods
Over a 5 year span, 235 patients with haematological malignancies received anthracycline chemotherapy ≥ 250mg/m2. The electronic medical records of these patients were reviewed. TTE outcomes were compared between survivorship and non-survivorship patients.

Results
Survivorship patients received TTE in 88.6% of cases, whereas non-survivorship patients received TTE in 30.9% of cases. In survivorship patients, TTE was indicated for asymptomatic screening in 92.3% of cases. In non-survivorship patients the majority of TTE were for symptom investigation (78.0%). Chi-squared analysis found these results to be statistically significant (p value < 0.05).

Discussion
Survivorship patients are nearly three times more likely to receive TTE monitoring for AIC. However, due to delayed clinic referral/attendance, only 36.4% received TTE within 1 year of treatment completion, in line with ESC guidelines.

Conclusion
Survivorship clinics improve TTE monitoring for AIC, allowing early identification and potential intervention. However, reliance on this model alone may risk inadequate surveillance for patients who do not attend and delays in referral/attendance may impact monitoring timeliness.
A mixed-methods nutrition, water, sanitation and hygiene knowledge, attitudes, and practices survey of IDPs, returnees, and host community members in four counties of Jonglei state, South Sudan
Authors: Lawry Lynn Lieberman , Gabor Rachel , Katele Jacques , Madut Lazarus Baak , Sommers Katina , Manuel David , Nadolski Claire , Lado Mounir , Koehlmoos Tracey Perez , Clemmer William 
Published: February 2025

Abstract

Background
The humanitarian community in South Sudan estimates that 9.4 million people need humanitarian assistance in 2023. Prior data is unlikely to reflect the current health situation of Jonglei state given the influx of internally displaced persons (IDPs) and returnees.

Methods
We conducted a cross-sectional, randomly sampled, mixed-methods, population-based household study during a 4-week period in June-July 2023 in ten bomas in four counties of Jonglei, South Sudan. Snowball sampled qualitative interviews were used for triangulation of quantitative data. The study was conducted to understand nutrition and water, sanitation, and hygiene knowledge, attitudes, and practices of IDPs, returnees and the host communities.

Results
A total of 859 households consented to the study (586 females and 273 males) with a response rate of 96% among females and 94% among males. Forty-two percent of households identified three or more strategies to prevent starvation or malnutrition. Up to a fifth of households were unable to identify any strategies to prevent starvation or malnutrition with the host community having the highest rate (20.2%) when compared to IDPs (13.4%; p = 0.018) or returnees (10.4%; p = 0.006). Only 34% of respondents could name three warning signs for when a child with diarrhea should be seen by a skilled provider. Only 26% of females exclusively breastfeed. Higher odds of breastfeeding included IDPs (aOR 1.11; 95% CI 1.01 to 1.03; p = 0.038), those educated on breastfeeding (aOR 1.18; 95% CI 1.03 to 1.35; p = 0.015) and those with positive nutrition attitudes (aOR 1.32; 95% CI 1.09 to 1.59; p = 005). Estimated household water usage ranged from 7.9 to 10.1 L/person/day. Based on qualitative triangulation, both nutrition and WASH traditional beliefs hinder adequate nutrition and create barriers to improvements in WASH.

Conclusion
Evidence based nutrition interventions should be the priority and include, at a minimum, micronutrient and vitamin supplementation, food fortification and adequate supplemental food for reproductive age females. Immediate and exclusive breastfeeding messaging should be a priority. Improved flood resistant sources for clean water, clean covered water storage container distribution, improved sanitation, oral rehydration solution (ORS) and zinc distribution and education are necessary to decrease diarrheal rates.
Efficacy and safety of mechanical transvenous lead extraction: median follow-up analysis and development of an experimental model for predicting survival post-extraction
Authors: Nasri Shima , Samimi Sahar , Eslami Masoud , Hematpour Khashayar , Eslami Morteza , Yarmohammadi Hirad , Mollazadeh Reza , Rahmanian Mehrzad 
Published: February 2025

Abstract

Background
Cardiac implantable electronic device (CIED) implantation is on the rise, accompanied by an increase in its inevitable complications such as different types of CIED infections that require further therapy and potential device extraction. Ensuring efficacy and safety remains paramount in transvenous lead extraction (TLE), given the complex nature of the procedure. The purpose of this study is to assess the outcomes of relatively low-cost mechanical TLE, including mid-term clinical follow-up, and to develop a predictive model for post-TLE survival. This study included all consecutive patients admitted for TLE at two tertiary medical centers between 2016 and 2021. Baseline characteristics, TLE procedure details complications occurring during and/or after the procedure and follow-up outcomes were collected.

Results
During the 5-year period, 100 consecutive patients underwent TLE. The mean age of the subjects was 61 ± 3 years. The average time from lead implantation to TLE was 69.34 ± 9.36 months, with a total of 216 leads extracted. The most common indication for TLE was infection observed in 87% of subjects with pocket infection seen in the majority (84%). Complete clinical success was achieved in 98% of patients, with major complications occurred in 5% of cases and only one case of peri-procedural death. Proposed experimental model showed that near 50% of the patients will live less than 73.29 months.

Conclusion
TLE demonstrated a high level of safety with low mortality and morbidity rates. Using low cost widely available mechanical tools is useful for treating CIED-related infections.
Investigation of the in vitro biofilm-producing ability of isolated microbes in chronic otitis media
Authors: Mehta Rupa , Nagarkar Nitin M. , Das Padma , Das Jyoti Ranjan , Das Debabrata , Gourh Govind 
Published: February 2025

Abstract

Introduction
A biofilm consists of bacteria or fungi adhered to the mucosal or prosthetic surfaces, surrounded by an extracellular polymeric substance.

Methods
A total of 145 patients were recruited for this prospective observational research. Tissue samples, including hypertrophied mucosa, granulation tissue, cholesteatoma flakes, and matrix, were collected and analyzed for the presence of biofilms, following the protocol outlined by Christensen et al.

Results
The presence of biofilms was detected in 28 cases. Among these, Pseudomonas aeruginosa was identified in 7 cases, Staphylococcus aureus and Coagulase-negative staphylococcus aureus in 5 cases, Proteus mirabilis and Acinetobacter in 3 cases, Citrobacter in 2 cases, and Streptococcus haemolyticus, Escherichia coli, and Moraxella Morganii each in 1 case.

Conclusion
In both outpatient and inpatient settings, the judicious application of topical or systemic antimicrobials is crucial. During surgical procedures, it is essential to distinguish diseased tissues from healthy ones and to conduct biofilm analysis on the latter.
Comprehensive Analysis of TCR and BCR Repertoires: Insights into Methodologies, Challenges, and Applications
Authors: Seo Kayoung , Choi Jung Kyoon 
Published: February 2025

Abstract
The diversity of T-cell receptors (TCRs) and B-cell receptors (BCRs) underpins the adaptive immune system’s ability to recognize and respond to a wide array of antigens. Recent advancements in RNA sequencing have expanded its application beyond transcriptomics to include the analysis of immune repertoires, enabling the exploration of TCR and BCR sequences across various physiological and pathological contexts. This review highlights key methodologies and considerations for TCR and BCR repertoire analysis, focusing on the technical aspects of receptor sequence extraction, data processing, and clonotype identification. We compare the use of bulk and single-cell sequencing, discuss computational tools and pipelines, and evaluate the implications of examining specific receptor regions such as CDR3. By integrating immunology, bioinformatics, and clinical research, immune repertoire analysis provides valuable insights into immune function, therapeutic responses, and precision medicine approaches, advancing our understanding of health and disease.
Bone mineral density in patients with congenital adrenal hyperplasia from prepubertal to adult age
Authors: Stancampiano Marianna Rita , Pitea Marco , Maruca Katia , Meroni Silvia Laura Carla , Bucolo Carmen , Russo Gianni , Mora Stefano 
Published: February 2025

Abstract

Context
Patients affected by the classic form of congenital adrenal hyperplasia (CAH) need lifelong glucocorticoid therapy (GC). GC represents one of the primary causes of secondary osteoporosis, however the effect of steroid therapy on bone mineral density (BMD) in patients with CAH is still controversial.

Objective
To evaluate and compare the BMD of a group of prepubertal patients and a subgroup of young adult patients with CAH receiving chronic GC therapy, with healthy controls.

Design
retrospective observational study.

Setting
A referral center for pediatric endocrinology.

Patients and healthy controls
Fifty-six prepubertal children with CAH treated with GC from diagnosis and 60 prepubertal healthy children of comparable age. A subgroup of 36 young patients was studied after the completion of puberty, and their BMD was compared to that of 51 young adult healthy volunteers.

Methods
BMD was measured in the lumbar spine and in the whole body by dual-energy x-ray absorptiometry. Multivariate models were used for the comparison of BMD measurements between patients and control subjects.

Results
Whole-body BMD measurements of patients were significantly lower compared with healthy controls, both in boys and in girls. No differences were found in lumbar spine measurements. BMD expressed as Z-score decreased markedly in CAH patients from prepuberty to adulthood, particularly in young adult males. Men with CAH showed lumbar spine BMD values significantly lower than control subjects.

Conclusions
Boys and young adult men with classic form of CAH have lower bone mineral density values compared with healthy controls. This may put them at risk of developing osteoporosis early in life.
Gonadotropin-releasing hormone and cognition
Authors: Kacimi Loïc , Prevot Vincent 
Published: February 2025

Abstract
Gonadotropin-releasing hormone (GnRH) is traditionally recognized as the central regulator of reproduction through its pulsatile secretion, which governs the hypothalamic-pituitary-gonadal (HPG) axis. However, recent evidence has highlighted its broader role in brain development and function, including in cognitive and higher intellectual processes. GnRH production follows distinct phases, from its early activation during minipuberty – the first postnatal activation of GnRH neurons during the infantile period, its reactivation and stabilization starting at puberty, and its eventual decline with age and the loss of gonadal steroid feedback. This evolution depends on the establishment, maturation and activation of GnRH neurons, a complex process regulated by the cellular and molecular environment of these neurons, including multiple neuronal and glial types as well as a minipubertal “switch” in gene expression, the perturbation of which may have long-term or delayed consequences for both reproductive and cognitive function. The cognitive role of GnRH may be related to its recently revealed involvement in maintaining myelination and synaptic plasticity, while disruptions in its finely tuned rhythmic secretion, either age-related or pathological, are associated with cognitive decline and neurodegenerative disorders. Restoring physiological GnRH levels and pulsatility can reverse age-related cognitive decline and improve sensory functions even in adulthood, suggesting a mobilization of the “cognitive reserve” in both animal models and human patients. This review highlights recent advances in our understanding of the GnRH system and the therapeutic potential of pulsatile GnRH therapy to mitigate age-related cognitive decline and neurodegenerative processes.
Ephemeral State-Dependent Recommendation for Digital Content
Authors: Shi Lanfei , Liu Jin , Li Yongjun , Foutz Natasha Zhang 
Published: February 2025

Practice- and Policy-oriented Abstract Building upon recent advances in consumption theories, we propose an ephemeral state-dependent framework for digital content recommendations. The framework accentuates a critical, yet understudied, interplay between a firm’s recommendation strategy (assimilation or diversification) and a consumer’s ephemeral state (fixation or foraging). The framework adaptively recommends either assimilated or diversified content based on a consumer’s ephemeral state. Through a randomized field experiment, we provide compelling evidence that state-dependent schemes can enhance engagement and revenue. Although the congruent scheme (i.e., assimilation when fixation, diversification when foraging) generally outperforms the incongruent one, contributing a 7.3% ($19.73 million) annual revenue lift for the platform, our findings underscore the necessity for nuanced personalization. Specifically, consumers with broader, more fluid preferences benefit more from the incongruent scheme (i.e., assimilation when foraging, diversification when fixation), challenging the prevailing assumption that congruence is always optimal. Our research not only adds to the theoretical understanding of consumer behavior in digital content consumption, but also offers actionable insights for designing more effective recommender systems. By accounting for consumer heterogeneity and considering the broader implications of our proposed recommendation framework, including spillover effects, our findings have the potential to influence industry practices and future academic inquiry in this rapidly evolving field.