bluuebunny/crossref_metadata_2025_split huggingface dataset:
Phenotype and genotype of autosomal dominant tubulointerstitial kidney disease in a Japanese cohort
Authors: Tanaka Yu , Nagano China , Sakakibara Nana , Okada Eri , Aoyama Shuhei , Kimura Yuka , Inoki Yuta , Ichikawa Yuta , Ueda Chika , Kitakado Hideaki , Horinouchi Tomoko , Yamamura Tomohiko , Ishimori Shingo , Iijima Kazumoto , Nozu Kandai , Morisada Naoya 
Published: February 2025

Abstract

Background
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is characterized by tubular atrophy, interstitial fibrosis, and progressive kidney dysfunction. Its causative genes include UMOD, MUC1, REN, HNF1B, and SEC61A1. ADTKD contributes to unexplained chronic kidney disease (CKD), and many cases remain genetically undiagnosed. This study aimed to elucidate the clinical features of patients genetically diagnosed with ADTKD in Japan.

Methods
We included individuals with suspected congenital anomalies of the kidney and urinary tract, nephronophthisis, polycystic kidney disease, or ADTKD. Genetic analyses using direct sequencing, short-read next-generation sequencing (SRS), and/or long-read next-generation sequencing (LRS) were performed on 1097 families. Patients with ADTKD–HNF1B were excluded due to prior reporting.

Results
Variants in UMOD, MUC1, REN, and SEC61A1 were identified in 52 patients from 40 families (18, 16, 5, and 1 family, respectively). The median age at diagnosis was 38.5 years, and the urinary protein-to-creatinine ratio was 0.05 g/gCr. End-stage kidney disease was present at diagnosis in 37% of patients. Genetic testing was performed in 58% due to suspected ADTKD based on pathology or clinical course and in 38% due to unexplained CKD. Kidney biopsies were performed in 55%, with ADTKD confirmed pathologically in 41%. SRS and LRS were used in 55% and 30% of all families, respectively; for ADTKD–MUC1, 75% of families were analyzed using LRS.

Conclusions
Clinical and pathological diagnosis of ADTKD remains challenging, emphasizing the importance of comprehensive genetic testing. Enhanced access to advanced genetic testing such as LRS is essential to improve diagnostic precision and management.
The Diagnostic Yield of Investigating Developmental Regression in Children: A Systematic Review and Meta-Analysis
Authors: Furley Kirsten , Teo Audrey , Williams Katrina , Alshawsh Mohammed , Brignell Amanda 
Published: February 2025

Abstract
This systematic review evaluates the diagnostic yield of investigations requested for children with developmental regression. Online databases MEDLINE, EMBASE, CINAHL, PsycINFO, Cochrane were searched to identify published records that reported a diagnostic yield for children with developmental regression. Random effects meta-analyses were performed using R software with meta package. Our search identified 11,283 published records, of which 347 were assessed for eligibility, and 15 (596 children) were included in the final systematic review and meta-analysis. Subgroup analysis assessed the diagnostic yield for investigating children with different presentations and developmental regression. Diagnostic yield results were 68% for children with neurological symptoms (two records, six children, 95%CI 32–100) and children with epileptic symptoms (two records, 56 children, 95%CI 15–100); 40% for children with neurodevelopmental delay (six records, 294 children, 95%CI 3–78); 9% for autistic children (three records, 138 children, 95%CI 0–26). Pooled analysis could not be completed for metabolic (one record, 29 children) or genetic presentations (one record, 73 children). The diagnostic yield for genetic/genomic investigations (six records, 142 children, 95%CI, 47–92) was 70%, compared with 28% for metabolic (five records, 286 children, 95%CI 0–64), 13% for neurophysiological (two records, 127 children, 95%CI 0–39) and 6% for neuroimaging (two records, 41 children, 95%CI 0–20). Investigations for children with developmental regression and neurological or epileptic symptoms resulted in the highest diagnostic yield. These results are clinically meaningful and will inform future research to advance towards an agreed investigative approach yet lack statistical significance due to small samples.
The Synergistic Relationship of Disgust Propensity and Distress Intolerance with Contamination-Related Obsessive–Compulsive Symptoms
Authors: Broos Hannah C. , Milgram Lauren , Port Jamie H. , Timpano Kiara R. 
Published: February 2025

Abstract
Obsessive–compulsive disorder (OCD) is a heterogenous condition that encompasses a range of symptoms, including contamination and washing symptoms. The contamination/washing symptom dimension is the most common presentation of OCD with distinct behavioral, cognitive, and physiological components. Transdiagnostic individual difference factors such as disgust propensity and distress intolerance may function—both independently and synergistically—to maintain contamination OCD symptoms. Little empirical research has examined the direct and interactive relationship between these constructs and contamination OCD symptoms. The current study examined the association of disgust propensity and distress intolerance with contamination OCD symptoms using a multimethod approach. A sample of young adults (N = 173) completed a series of questionnaires, including self-report measures of disgust propensity, distress intolerance, and OCD symptoms. Participants also completed several behavioral tasks which captured their emotional responding to visual disgust stimuli, behavioral avoidance, and washing behaviors. Results suggest that disgust propensity and distress intolerance relate to contamination OCD symptoms, both independently and synergistically. However, findings differed across outcome measures. Overall, this study provided novel information about the independent and synergistic relationships of disgust propensity and distress intolerance with multiple assessments of contamination OCD symptoms. Our findings highlight the utility of multimodal assessment to inform a more nuanced understanding of the association between OCD symptoms and relevant risk factors. Interventions targeting both disgust propensity and distress intolerance may be most effective for treating individuals with contamination OCD symptoms specifically, and general OCD symptoms more broadly.
I know how to withstand the skeptic
Authors: Soria-Ruiz Andrés 
Published: February 2025

Abstract
A prominent class of arguments for external world skepticism rely on the plausible view that knowledge is closed under logical entailment. From the fact that one does not know that one is not a handless brain in a vat it can be inferred that one does not know that one has hands, in virtue of the fact that having hands logically entails that one is not a handless brain in a vat. The complements of knowing-how ascriptions, however, are not—obviously, at least—related by logical entailment to any proposition, and therefore, they resist that skeptical argument. Even if I don’t know that I am not a brain in a vat, it does not follow that I don’t know how to, say, play a drum rudiment. Thus, knowing-how can withstand closure-based skepticism about the external world.
Metabolomic insight into the link of intermuscular fat with cognitive performance: the Health ABC Study
Authors: Xu Richard , Tian Qu , Marron Megan M. , Ferrucci Luigi , Yao Shanshan , Kim Seyoung , Shah Ravi V. , Murthy Venkatesh L. , Newman Anne B. , Miljkovic Iva , Rosano Caterina 
Published: February 2025

Abstract
There is growing evidence that higher intermuscular fat (IMF) is associated with worse processing speed, measured by the digit symbol substitution test (DSST) in older adults. However, the underlying biological mechanisms are not well understood. Considering that both muscle and the brain are metabolically active organs, we sought to identify metabolites that may explain the IMF-DSST association. We assessed 613 plasma metabolites in 2388 participants from the Health, Aging, and Body Composition Study (mean age ± SD 74.7 ± 2.9 years, 50% men, 63% white), using liquid chromatography-mass spectrometry. We confirmed that higher IMF was associated with worse DSST scores (standardized beta (95% CI) − 0.08 (− 0.12, − 0.03), p < 0.001). Sixty-six metabolites were significantly associated with both IMF and DSST. Four of the 66 metabolites attenuated the association by ≥ 10%: higher levels of adrenic acid (polyunsaturated fatty acid), and lower levels of C20:5 lysophosphatidylcholine (lysophospholipid), 1-methylnicotinamide (vitamin B3-related myokine), and maslinic acid (triterpene) were associated with higher IMF and worse DSST. Together, they explained 41% of the IMF-DSST association. Pathway enrichment analyses identified two significant shared pathways: unsaturated fatty acid metabolism and the citrate (TCA) cycle. This study provides hypothesis-generating evidence that a set of circulating metabolites related to unsaturated fatty acids, energy metabolism, and myokines may partially explain the inverse association of IMF with processing speed. The findings, if further confirmed by independent studies, advance our understanding of molecular pathways underlying muscle-brain crosstalk. Whether the identified metabolites are early predictors of future decline in processing speed should be further investigated.
Quality Determination of Frozen-Thawed Shrimp Using Machine Learning Algorithms Powered by Explainable Artificial Intelligence
Authors: Genç İsmail Yüksel , Gürfidan Remzi , Açikgözoğlu Enes 
Published: February 2025

Abstract
In this study, the performance of a set of machine learning algorithms was evaluated to classify the freshness levels of frozen-thawed shrimps during storage in refrigerator conditions. The algorithms used include CNN, DenseNet121, InceptionV3, ResNet50, CNN + LSTM, and YOLO_v8. Shrimps were categorised into three classes according to their freshness: fresh, medium, and stale. According to the results, the CNN + LSTM model was the most successful algorithm with a 99.07% accuracy rate. The YOLO_v8 algorithm stood out with 99.23% accuracy in the validation set. However, it was observed that the classification performances of models such as DenseNet121 and ResNet50 were relatively low. In addition, to increase the explainability of the decision processes, the Grad-CAM algorithm was used to visualise the areas that the CNN + LSTM model considers when determining the freshness states. Grad-CAM effectively emphasised visual cues focusing on the surface texture and signs of deterioration of the frozen-thawed shrimps. The results of the study showed that the proposed algorithms provide a non-destructive and accurate method for shrimp freshness classification. This approach offers a potential solution to improve food safety in the seafood industry.
Development and internal validation of a predictive model of overall and progression-free survival in eribulin-treated patients with breast cancer based on baseline peripheral blood parameters
Authors: Natori Keiko , Igeta Masataka , Morimoto Takashi , Nagahashi Masayuki , Akashi-Tanaka Sadako , Daimon Takashi , Miyoshi Yasuo 
Published: February 2025

Abstract

Background
Immune and inflammatory blood parameters have been reported as biomarkers for treatment efficacy. This study aimed to establish a predictive model that includes blood parameters for patients with metastatic breast cancer treated with eribulin.

Methods
A total of 297 patients were enrolled, and their baseline neutrophil-to-lymphocyte ratio, absolute lymphocyte count (ALC), platelet-to-lymphocyte ratio (PLR), prognostic nutritional index (PNI), lymphocyte-to-monocyte ratio (LMR), lactate dehydrogenase (LDH), C-reactive protein (CRP), and clinical data were retrospectively collected.

Results
We constructed nomograms to predict overall survival (OS) and progression-free survival (PFS) using blood parameters, including clinical factors. For OS, menopausal status, hormone receptor status, HER2 status, de novo or recurrent, metastatic site, treatment line, ALC, PLR, PNI, LMR, LDH, and CRP were selected to predict the model. We used menopausal status, hormone receptor status, HER2 status, treatment line, PLR, LMR, LDH, and CRP to predict PFS. Both the OS and PFS of patients according to the risk scores were significantly different (p < 0.001). The optimism-corrected C-indices of the nomograms for OS and PFS were 0.680 and 0.622, respectively. The mean time-dependent area under the receiver operating curve values for OS at 1, 2, and 3 years were 0.752, 0.761, and 0.784, respectively, and for PFS at 3, 6, and 12 months were 0.660, 0.661, and 0.650, respectively.

Conclusion
Nomograms incorporating peripheral blood parameters may improve the accuracy of predicting OS and PFS in patients treated with eribulin. Our prediction model may help decision-making for breast cancer patients who are considering eribulin treatment.
Impactful water efficiency practice
Authors: Prabhu Krishnananda 
Published: February 2025

Abstract
Conserving water saves energy. Energy is needed to filter, heat, and pump water to our homes. So, reducing your water use also reduces our carbon footprint. Using less water keeps more water in our ecosystems and helps to keep wetland habitats topped up for animals like otters, water voles, herons, and fish. In this regard, the practice of water efficiency plays an important role. Water conservation is the practice of reducing water consumption by measuring the amount of water required for a particular purpose and is proportionate to the amount of essential water used. Water efficiency differs from water conservation in that it focuses on reducing waste, not restricting use. The washing machine has become one of the most essential household appliances in every modern household. It not only conserves time and energy but also increases the longevity of your clothing along with making it cleaner clothes than hand washing. On average, washing machines consume around 140–200 L of water per wash cycle and around the same amount for rising. Here, I am proposing a simple water efficiency strategy that can be practiced in every household without restricting water usage.
Particularities of Chronic Urticaria in Latin American Countries: Epidemiology, Pathogenesis and Treatment
Authors: Larco Jose-Ignacio , Ensina Luis , Alvarez Leidy , Cherrez-Ojeda Ivan , Sanchez Jorge 
Published: February 2025

Abstract

Purpose of Review
Chronic Urticaria is a multifactorial disease. Despite international guideline recommendations each region has particular characteristics with unique needs. The aim of this review is to present the particularities of urticaria in Latin America (LATAM) and evaluate the clinical and investigation costs of CSU in LATAM and other regions.

Recent Findings
In the last 10 years there has been a significant increase in research on CSU in LATAM. At the molecular level, the presence of specific IgE against environmental allergens and eosinophils seems to be more frequent among CSU in LATAM than in other regions, suggesting a greater presence of type 2 inflammation, perhaps secondary to the characteristics of the environment in some areas of LATAM. At a clinical level, there are common points and differences with respect to what has been published in other regions, especially in terms of management secondary to economic access barriers.

Summary
It is important to understand the causes of these particularities to modify those that result in a high cost for the patient and society.
Determinants of medication adherence in patients with diabetes, hypertension, and hyperlipidemia
Authors: Chantzaras Athanasios , Yfantopoulos John 
Published: February 2025

Abstract

Objectives
To investigate medication non-adherence and its determinants in diabetes, hypertension, and hyperlipidemia.

Methods
In a multicenter, cross-sectional, non-interventional study, 518 diabetic, 721 hypertensive, and 463 hyperlipidemic patients were recruited, using consecutive sampling, in Greece during the COVID-19 pandemic. Medication adherence was measured with the Adherence to Refills and Medications Scale (ARMS). Multiple linear regressions with robust standard errors investigated the predictors of the ARMS summary score.

Results
Perfect adherence was estimated at 16%, 12%, and 11%, and low adherence at 38.8%, 61.3%, and 66.7% in diabetes, hypertension, and hyperlipidemia, respectively. The factors that significantly increased the likelihood of non-adherence were the following: (a) lower age, female gender, no public health insurance, high perceived threat of illness, low satisfaction with physician consultations, shorter consultations, bad general health, fewer comorbidities, and type 2 diabetes; (b) male gender, not being married, low education, no public insurance, smoking, frequent drinking, shorter consultations, self-perceived inadequacy of knowledge, negative views of medication, presence of comorbidities, fewer medicines being used, and high blood pressure in hypertension; and (c) lower age, not being employed, smoking, frequent drinking, no public insurance, low satisfaction with consultations, negative views of medication, taking 3–4 medicines, high LDL, and low HDL and triglyceride levels in hyperlipidemia. Different curvilinear associations of adherence with BMI and exercise were also found.

Conclusion
Medication non-adherence is very common in diabetes, hypertension, and hyperlipidemia. Strategies to improve adherence should consider the different determinants of non-adherence among patient groups.
Floral bio-residues of saffron: a potential source of valuable components; extraction and application
Authors: Shanker M. Anjaly , Puthiyedath Abhilash , Rana Sandeep Singh 
Published: February 2025

Abstract
Prevalently known as red gold, saffron is one of the popular and expensive spices throughout the world. Assortment of the spice is an energy-intensive process where the stigma part of the flower is separated as a primary resource. Structurally, the stigma accounts for the small part of the flower and the remaining major proportions including petals, stamen, style etc. are discarded as waste fractions. With saffron being known for the culinary, medicinal and functional properties, there is higher value attributed to the waste fractions of the flower. Bio-fractions are known sources of protein (8.17–24.45 g/100 g of dry weight), lipids (2.22–10.73 g/100 g of dry weight), carbohydrates (33.8–64.9 g/100 g of dry weight), minerals and dietary fractions (14.4–32.3 g) and are highly comparable with the nutritional percentages of stigma. Phytochemical profiles of these parts are prominent with higher percentages of carotenoids, flavanols and anthocyanins making them a valuable extraction source. Maceration and solvent extraction are traditional methods employed in the extraction of these plant components. The involvement of modern extraction methods like ultrasound, microwave, supercritical extraction techniques have increased the efficiency and functional quality of the extract obtained. This review aims at assessing the phytochemical and nutritional profile of these bio fractions, emphasizing the positives of different extraction techniques and also covering the unlimited potential applications of so-called waste fractions.
A Qualitative Analysis of Opportunities to Strengthen Coordination Between Humanitarian Mine Action and Emergency Care for Civilian Casualties of Explosive Injury
Authors: Wild Hannah B. , Trautwein Micah , Fontanet Constance , Hottentot Elke , Kasack Sebastian , Munyambabazi Alex , Calvello-Hynes Emilie , Kushner Adam , Stewart Barclay 
Published: February 2025

Abstract

Objectives
Explosive ordnance (EO) and explosive weapons (EW) inflict significant suffering on civilian populations in conflict and post-conflict settings. At present, there is limited coordination between humanitarian mine action (HMA) and emergency care for civilian victims of EO/EW. Key informant interviews with sector experts were conducted to evaluate strategies for enhanced engagement between HMA and emergency care capacity-building in EO/EW-affected settings.

Methods
A cross-sectional qualitative study was conducted to interview HMA and health sector experts. Data were analyzed in Dedoose using deductive and inductive coding methods.

Results
Nineteen key informants were interviewed representing sector experts in HMA, health, and policy domains intersecting with the care of EO/EW casualties. Recommendations included integration of layperson first responder trainings with EO risk education, development of prehospital casualty notification systems with standardized health facility capacity mapping, and refresher trainings for HMA medics at local health facilities.

Conclusions
Medical capabilities within the HMA sector hold potential to strengthen emergency care for civilian EO/EW casualties yet in the absence of structured coordination strategies is underutilized for this purpose. Increased HMA engagement in emergency care may enhance implementation of evidence-based emergency care interventions to decrease preventable death and disability among civilian victims of EO/EW in low-resource settings.
Ancestros del Futuro: Danza Antirracista Afro-contemporánea; Una propuesta de la compañía de danza Sankofa Danzafro desde Colombia
Authors: Angulo Carlos Correa 
Published: February 2025

Resumen
Este artículo cuestiona la suposición común de que las organizaciones negras son inherentemente antirracistas, enfatizando la necesidad de explorar cómo esas organizaciones desarrollan perspectivas antirracistas que se integra en su trabajo y prácticas. A partir de una experiencia de trabajo con Sankofa Danzafro, este estudio analiza los resultados de seis laboratorios de danza realizados con niños, adolescentes y jóvenes afrocolombianos. Estos laboratorios culminaron en la creación de “Ancestros del Futuro”, una obra de danza inspirada en el afro-futurismo y el Black joy, interpretada por la compañía de danza afro contemporánea en Colombia. Esta investigación resalta cómo la perspectiva antirracista en la danza afro contemporánea se forma a través de una combinación única de estéticas que emergen de prácticas de danza rutinarias y una dimensión afectiva que evoluciona en momentos clave en las trayectorias de vida de los bailarines. Esta fusión desafía los discursos antirracistas dominantes que generalmente enmarcan el antirracismo como una agenda programática estática, presentándolo en cambio como una conciencia política-afectiva dinámica desarrollada mediante un compromiso reflexivo con el cuerpo a través de la danza.
Non-pharmacological therapeutic paradigms in stress-induced depression: from novel therapeutic perspective with focus on cell-based strategies
Authors: Azarfarin Maryam , Shahla Mahdi Mohammadzadeh , Mohaddes Gisou , Dadkhah Masoomeh 
Published: February 2025

Abstract
Major depressive disorder (MDD) is considered a psychiatric disorder and have a relationship with stressful events. Although the common therapeutic approaches against MDD are diverse, a large number of patients do not present an adequate response to antidepressant treatments. On the other hand, effective non-pharmacological treatments for MDD and their tolerability are addressed. Several affective treatments for MDD are used but non-pharmacological strategies for decreasing the common depression-related drugs side effects have been focused recently. However, the potential of extracellular vesicles (EVs) derived from mesenchymal stem cells (MSCs), microRNAs (miRNAs) as cell-based therapeutic paradigms, besides other non-pharmacological strategies including mitochondrial transfer, plasma, transcranial direct current stimulation (tDCS), transcranial magnetic stimulation (TMS), and exercise therapy needs to further study. This review explores the therapeutic potential of cell-based therapeutic non-pharmacological paradigms for MDD treatment. In addition, plasma therapy, mitotherapy, and exercise therapy in several in vitro and in vivo conditions in experimental disease models along with tDCS and TMS will be discussed as novel non-pharmacological promising therapeutic approaches.