bluuebunny/crossref_metadata_2025_split huggingface dataset:
Pediatric cartilaginous lateral femoral condyle Hoffa fracture: A case report and review of the literature.
Authors: DeBeer Anna , Brown Matthew 
Published: September 2023

Abstract
Introduction:
Hoffa fractures are challenging coronally-oriented articular injuries of the femoral condyle. These fractures are rare in adults and extremely rare in the skeletally immature, with few cases reported in literature. To prevent mal- or non-union, Hoffa fractures require prompt surgical stabilisation with anatomic reduction and internal fixation.
Case Report:
We discuss the case of a lateral distal femoral condyle cartilaginous Hoffa fracture in a ten-year-old male patient. The patient presented after a football non-contact “twist and pop” injury with radiographic imaging described as an osteochondritis dissecans lesion. An MRI was obtained which demonstrated a lateral distal femoral condyle cartilaginous fracture. An operative plan was formulated to perform arthroscopic reduction and bio-compression screw fixation to minimize damage to the physis and surrounding tissues. Hyperflexion of the knee allowed for anatomic fracture reduction with the placement of 2 bio-compression screws serving as maintenance of fixation. The patient did well postoperatively and returned to full activity after 6 months.
Conclusion
Hoffa fractures in the pediatric population are rare and can occur not only through bone but also through the thick chondral layer in younger patients. These are extremely difficult to diagnose through X-Ray alone. The prompt use of MRI imaging allows for operative fixation in a timely fashion, while an arthroscopic-only approach allows for minimal tissue damage. With an appropriate fracture type, hyper-flexion reduces and stabilizes the fracture, permitting the placement of minimally invasive bio-compression fixation.
Setting the optimal threshold of NT-proBNP/BNP for the diagnosis of heart failure in patients over 75 years
Authors: Berthelot Emmanuelle , Bailly Minh Tam , Lehova Xenia Cerchez , Rahmani Manel El Blidi , Bounab Rahil , Mewton Nathan , Dobbs John , Mas Remy , Frank Marie , Paclot Marion , Jourdain Patrick 
Published: September 2023

Abstract
Background
The diagnosis of acute heart failure (AHF) continues to be a challenge in older patients. Natriuretic peptides are recommended in the diagnosis of AHF.
Aims
To determine the diagnostic threshold of BNP and NT-proBNP as a diagnostic tool for acute heart failure (AHF) in patients over 75 years old with and without comorbidities.
Methods and Results
In this retrospective longitudinal multicenter cohort study, we collected data from 12,974 patients aged 75 years or older who were hospitalized for acute dyspnea with BNP or NT-proBNP measurement in the 48 hours after admission in 10 Assistance Publique-Hôpitaux de Paris between 2011 and 2021 in geriatrics, cardiology, and pulmonology departments. The final diagnosis was classified with ICD 10 as either “AHF” or other acute respiratory failure, represented by COPD exacerbation and pneumonia. The Mean (SD) age of our population was 84.4 (6.1) years old, and 52.7% of patients were women. 8,385 (64.6%) patients had an AHF diagnosis at discharge. For BNP and NT-proBNP, we found threshold with good sensitivity and specificity, for the age-dependent cutoffs of 85 yo, in older patients with atrial fibrillation, in older patients with CrCl < 40 ml/min, and in older patient with obesity.
Conclusion
In older patients, we found significant effects of comorbidities on natriuretic peptides results, particularly in patients over 85 year old, older patients with abnormal renal function, obesity and atrial fibrillation. Despite the consideration of those comorbid conditions, NT-proBNP and BNP level continue to demonstrate utility in the diagnosis of AHF in older patients.
Associations of dietary niacin, vitamin B6, and folate intakes with risk of rheumatoid arthritis: An Analysis Using NHANES Data from 2003-2018
Authors: Fang Jianguo , Du Xiaming , Wang Duojun , Liu Cai , Zhang Hui , Lin Zaijun 
Published: September 2023

Abstract
Background: The relationship between dietary niacin, vitamin B6, and folate intakes and the risk of rheumatoid arthritis (RA) has not been well established. This study aimed to investigate the associations between these nutrients and RA risk using data from the National Health and Nutrition Examination Survey (NHANES) 2003-2018.
Methods: A cross-sectional study was conducted using data from participants in NHANES 2003-2018. Dietary niacin, vitamin B6, and folate intakes were assessed using 24-hour dietary recall interviews. The presence of RA was determined based on self-reported physician diagnoses. Multivariable logistic regression models were used to estimate the adjusted odds ratios (ORs) and 95% confidence intervals (CIs) for RA risk according to the intake of niacin, vitamin B6, and folate, adjusting for potential confounders.
Results: A total of 24,151 participants reported having RA. After adjusting for potential confounders, an inverse association was observed between dietary niacin intake and RA risk (OR for the highest versus lowest quartile: 0.67; 95% CI: 0.54-0.84; Ptrend <0.001). Similarly, an inverse association were detected between vitamin B6 (OR: 0.66; 95% CI: 0.54-0.80; Ptrend <0.001) or folate (OR: 0.78; 95% CI: 0.64-0.95; P trend <0.001) intake and RA risk.
Conclusions: In this large, nationally representative sample of U.S. adults, dietary intake of niacin, vitamin B6, and folate was negatively associated with the risk of RA. Further prospective studies are needed to confirm these findings and elucidate potential underlying mechanisms.
Clinical concordance evaluation of the causality of sequence variants
Authors: Zhou Peng , He Na , Lin Zhi-Jian , Yan Li-Min , Luo Sheng , Li Bin , Wang Jie , Bian Wen-Jun , Meng Heng , Shi Yi-Wu , Su Tao , Liu Xiao-Rong , Yi Yong-Hong , Liao Wei-Ping 
Published: September 2023

Abstract
Interpreting sequence variants is a scientific challenge as well as a realistic task in clinical practice. The pathogenicity of a variant depends on not only its damage but also the genetic dependent quantity (GDQ, quantitative genetic function required for normal life) that differs in each gene but was not considered in previous protocols. We developed a clinical concordance evaluation (CCE) framework to evaluate the pathogenicity/causality of variants by comparing the clinical and genetic features of a patient with the pathogenic features of candidate genes, including phenotype specificity, pathogenic genotype, genotype-phenotype (severity) correlation, and inheritance, which are associated with GDQ. In 337 patients with epilepsy on genetic testing, 70 variants were evaluated as pathogenic/likely pathogenic by the American College of Medical Genetics and Genomics guidelines (ACMG). The CCE identified all these pathogenic/likely pathogenic variants but excluded the pathogenicity of one variant. The CCE identified an additional 13 possibly-causative, one likely-causative, and two causative variants, including a causative homozygous variant of MFSD8 associated with ceroid lipofuscinosis, which was evaluated as “uncertain significance” by ACMG. CCE is a framework with individualized criteria for the clinical/genetic abnormalities of patients and the pathogenic features of individual genes, potentially a practical protocol for individualized medicine.
Firstborns Versus Later-borns: Same Resources, Different Outcomes. An Extension of Resources Dilution Theory
Authors: Lwiza Samwel Saimon , Jaah Mkupete , Sharma Vipin 
Published: September 2023

Abstract
Resources Dilution theory predicts a trade-off between the quantity and quality of children in the household. According to the theory, eldest kids would achieve higher educational outcomes than later-born siblings because of more resources allocated to them. This paper attempted to examine whether the theory holds even when household resources are equally distributed to both siblings. By using the dataset of the Young Lives School Survey in Ethiopia conducted respectively in 2012/13 and 2016/17, we found that, while firstborns were shown to be 3% more efficient, second and third-borns were significantly 1% more efficient than later-born siblings. We suggest that even if household resources are evenly distributed, elder kids would attain higher educational outcomes than later-born children. This study underlines the importance of birth order on opportunities and inequalities among siblings, which may guide policymakers on designing appropriate maternity leave, school funding, and human capital improvement policies that would support later-borns.
Novel protein domain-specific primers strategy for qPCR/ endpoint PCR to identify resistance gene analogous
Authors: Jagadeesan Kuppuraj , Sirari Asmita , Sharma Mamta , Dhkal Manmohan , Mohindru Bharathi , Sandhu Jagdeep Singh 
Published: September 2023

Abstract

Background: In the quest to identify new resistance genes analogous to those found in other plant species, a novel primer designing strategy is introduced for the first time. Unlike traditional methods that rely on prior information about degeneracy positions, this new approach involves designing primers based on specific domain positions within the candidate resistance gene and eliminates the need for prior knowledge of degeneracy. By using this new approach, it becomes possible to uncover resistance genes and understand their functional interactions with pathogens. Additionally, this approach sheds light on the redundancy and diversity of resistance genes. Notably, this primer designing strategy exhibits remarkable sensitivity, allowing the detection of elusive low-abundance target sequences that were previously challenging to identify using degeneracy-based designs.
Results: The qPCR primers, designed using the novel approach of protein domain-specific regions, underwent standardization and validation in endpoint PCR. Subsequent melt curve analysis in qPCR revealed that out of the ten primers tested, six NB-ARC family protein domain-specific qPCR primers (NB-ARC_2, NB-ARC_3, NB-ARC_4, NB-ARC_8, NB-ARC_12, and NB-ARC_17) exhibited a single peak melt curve, indicating precise amplification of the conserved NB-ARC domain of the R-protein. This confirms their specificity and reliability for target detection, enabling the identification of new resistance gene analogues.
Conclusion: Our innovative protein domain-specific qPCR primer design approach allows for precise and accurate PCR amplification, overcoming the limitations of traditional degenerate primers. It enables targeted amplification of specific domain regions within resistance proteins, uncovering both conserved domains and novel resistance genes or gene analogs. The use of these primers also captures the redundancy of resistance genes, offering improved accuracy and reliability in target gene identification. This breakthrough represents a significant advancement in molecular biology research and opens new possibilities for identifying resistance gene analogs. To the best of our knowledge, this is the first report of identifying resistance gene analogs using “protein domain-specific” region based qPCR primer design approach.
Transgenic expression of cif genes from Wolbachia strain wAlbB recapitulates cytoplasmic incompatibility in Aedes aegypti.
Authors: Sinkins Steven , McNamara Cameron , Ant T. H. , Samuel Timothy Harvey , White-Cooper Helen , Martinez Julien , Alphey Luke 
Published: September 2023

Abstract
The endosymbiotic bacteria Wolbachia can invade insect populations by modifying host reproduction through cytoplasmic incompatibility (CI), an effect that results in embryonic lethality when Wolbachia-carrying males mate with Wolbachia-free females. Here we describe a transgenic system for recreating CI in the major arbovirus vector Aedes aegypti using CI factor (cif) genes from wAlbB, a Wolbachia strain currently being deployed to reduce dengue transmission. CI-like sterility was induced when cifA and cifB were co-expressed in testes; this sterility could be rescued by maternal cifA expression, thereby reproducing the pattern of Wolbachia-induced CI. Expression of cifB alone was associated with extensive DNA damage and disrupted spermatogenesis. The strength of rescue by maternal cifA expression was dependent on the comparative levels of cifA/cifB expression in males. These findings are consistent with CifB acting as a toxin and CifA as an antitoxin, with CifA attenuating CifB toxicity in both the male germline and in developing embryos.
Feasible deployment trajectories of carbon capture and storage compared to the requirements of climate targets
Authors: Kazlou Tsimafei , Cherp Aleh , Jewell Jessica 
Published: September 2023

Abstract

Carbon capture and storage (CCS) including its negative emission applications play a key role in climate change mitigation. Recent industry plans indicate an eight-fold increase in capacity by 2030, yet the feasibility of rapidly upscaling CCS is debated due to past failures and long-term storage constraints. Here we re-focus this debate on the feasibility of CCS growth in the near-term by constructing plausible ranges of its deployment based on empirical evidence from CCS and other policy-driven technologies. We show that under the most optimistic assumptions of near-term industry plans and their failure rates, CCS can reach 0.37 Gt/year by 2030. While this growth would fall short of three-quarters of 1.5°C scenarios, it would keep CCS on-track for over half of 2°C scenarios. Beyond 2030, staying on-track for 2°C requires that CCS accelerates as fast as wind power did historically and expands despite the shrinking carbon market in a climate-constrained world.
Self-supervised learning of accelerometer data provides new insights for sleep and its association with mortality
Authors: Doherty Aiden , Yuan Hang , Plekhanova Tatiana , Walmsley Rosemary , Reynolds Amy , Maddison Kathleen , Bucan Maja , Gehrman Philip , Rowlands Alex , Ray David , Bennett Derrick , McVeigh Joanne , Straker Leon , Eastwood Peter , Kyle Simon 
Published: September 2023

Abstract

Sleep is essential to life. Accurate measurement and classification of sleep/wake and sleep stages is important in clinical studies for sleep disorder diagnoses and in the interpretation of data from consumer devices for monitoring physical and mental well-being. Existing non-polysomnography sleep classification techniques mainly rely on heuristic methods developed in relatively small cohorts. Thus, we aimed to establish the accuracy of wrist-worn accelerometers for sleep stage classification and subsequently describe the association between sleep duration and efficiency (proportion of total time asleep when in bed) with mortality outcomes. We developed a self-supervised deep neural network for sleep stage classification using concurrent laboratory-based polysomnography and accelerometry. After exclusion, 1,448 participant nights of data were used for training. The difference between polysomnography and the model classifications on the external validation was 34.7 minutes (95% limits of agreement (LoA): -37.8 to 107.2 minutes) for total sleep duration, 2.6 minutes for REM duration (95% LoA: -68.4 to 73.4 minutes) and 32.1 minutes (95% LoA: -54.4 to 118.5 minutes) for NREM duration. The sleep classifier was deployed in the UK Biobank with ~100,000 participants to study the association of sleep duration and sleep efficiency with all-cause mortality. Among 66,214 UK Biobank participants, 1,642 mortality events were observed. Short sleepers (<6 hours) had a higher risk of mortality compared to participants with normal sleep duration (6 to 7.9 hours), regardless of whether they had low sleep efficiency (Hazard ratios (HRs): 1.69; 95% confidence intervals (CIs): 1.28 to 2.24 ) or high sleep efficiency (HRs: 1.42; 95% CIs: 1.14 to 1.77). Deep-learning-based sleep classification using accelerometers has a fair to moderate agreement with polysomnography. Our findings suggest that having short overnight sleep confers mortality risk irrespective of sleep continuity.
Infantile-Onset Pompe Disease: A Case Report Emphasizing the Role of Genetic Counseling and Prenatal Testing
Authors: Alizadeh Yasaman , Saidi Hossein , Saeedi Vahid , Kamalzadeh Leila 
Published: September 2023

Abstract
Background: Pompe disease, classified as glycogen storage disease type II, arises from a deficiency in the acid alpha-glucosidase (GAA) enzyme, leading to glycogen accumulation in multiple tissues. The unique correlation between genotype and enzyme activity is a key feature. This case highlights an infantile-onset form, emphasizing genetic counseling and prenatal testing importance
Case Presentation: An 18-week-old infant with respiratory distress, cyanosis, and fever was admitted. Born healthy, her sibling died from Pompe disease. She presented with cardiomegaly, hypotonia, and absent reflexes. Diagnosis was confirmed by significantly reduced GAA activity. Despite treatment initiation, the patient succumbed to cardiac arrest.
Conclusions: The case underscores genetic counseling's role, offering insights into prenatal testing advancements, antenatal diagnosis through echocardiography, and the significance of early intervention, particularly in infantile-onset Pompe disease.
Effects of Chinese herbal medicine on Patients with AECOPD Risk Window: study protocol for a Randomized Controlled Trial
Authors: Hailong Zhang , Huanrong Ruan , guixiang Zhao , Li ya , Jiansheng Li 
Published: September 2023

Abstract
Background
Chronic Obstructive Pulmonary Disease (COPD) is a major chronic disease with high incidence, mortality, and prevalence. Acute exacerbations mostly occur in a centralized period after an acute exacerbation, during which are extremely easy to occur again. We call this “high-risk period” as the “AECOPD risk window” (AECOPD-RW). At present, Western medicine lacks specific guidance on the medication of AECOPD-RW. Chinese herbal medicine has good efficacy and advantages in the treatment of COPD. Based on the clear distribution of syndrome in the previous period, this study aims to evaluate the clinical efficacy and safety of Chinese herbal medicine on AECOPD-RW.
Methods
This proposed study is a multi-center, double-blind, randomized controlled trial (RCT) to compare the efficacy of two therapies for patients with AECOPD-RW. 336 subjects will be randomly assigned in a 1:1 ratio to experimental group or control group for 8 weeks treatment and 18 weeks follow-up. Based on health education and conventional treatment, the experimental group will receive Chinese herbal medicine granule according to Chinese medicine syndrome types, while the control group will receive Chinese herbal medicine placebo granule according to Chinese medicine syndrome types. The primary outcomes are acute exacerbation rate in the AECOPD-RW, COPD Assessment Test (CAT) in the AECOPD-RW, and secondary outcomes include time to the first acute exacerbation, degree of acute exacerbation in the AECOPD-RW, acute exacerbation rate in the follow-up period, degree of acute exacerbation in the follow-up period, lung function, mMRC, quality of life and index of security. Outcome measurements will be evaluated at week 0, 8 of the treatment period and at week 16, 26 of the follow-up period. The results will provide evidence for the clinical efficacy and safety of traditional Chinese medicine in the treatment of AECOPD RW, and provide a reliable scheme for the treatment of AECOPD-RW.
Discussion
This is the first multicenter, randomized, double-blind, placebo-controlled parallel trial designed to investigate the efficacy of Chinese herbal medicine in the treatment of AECOPD-RW. The result of this RCT may help effectively reduce the possibility of AECOPD recurrence, change the course of disease deterioration, and provide evidence-based evidence for Chinese herbal medicine prevention and treatment of AECOPD-RW.
Trial registration
This trial was registered in ClinicalTrials.gov, NCT04851093. Registered on 14 April 2021.
CYTL1 induces cell proliferation to modulate gastric cancer progression
Authors: Bai Weisong , Zhao Lizhi , Qian Weikun , Shang Peiqiang , Ma Qingyong , Ma Zhenhua 
Published: September 2023

Abstract
Background
Cytokine-like protein 1 (CYTL1) is ubiquitously expressed in multiple human cancers, including gastric cancer (GC). However, its physiological role in GC is unknown. Herein, we elucidated the importance of CYTL1 in GC and assessed its association with GC progression.
Methods
The Cancer Genome Atlas (TCGA) was used to obtain clinical data for GC patients. Next, we investigated the associations among the CYTL1 expression level, pathological features, and patient prognosis. Finally, we examined the relationships among the CYTL1 level, immune cell invasion (CI), and GC progression.
Results
The CYTL1 level was elevated in GC tissues compared to surrounding normal tissues. Moreover, enhanced CYTL1 expression in GCs was intricately linked to worse prognosis. Based on univariate and multivariate Cox regression analyses, the CYTL1 level, along with age, residual tumor status, N stage, and primary therapeutic outcome, was an independent indicator of disease-specific survival (DSS), overall survival (OS), and progression-free interval (PFI) in GC patients. Furthermore, an elevated CYTL1 level was associated with tumor infiltration of pDCs, mast cells, macrophages, DCs, Tem cells, NK cells, Th2 cells, and Th17 cells. Using gene set enrichment analysis (GSEA), we revealed that an elevated CYTL1 level was intricately linked to cell proliferation (CP) and the glycolytic network. Finally, CYTL1 knockdown in GC cell lines drastically reduced CP, cell migration (CM), and CI in both in vitro and in vivo studies.
Conclusion
CYTL1 expression correlates with GC progression and glycolysis, indicating that it may be a strong prognostic indicator in GC.
The Effect of Build Orientation on the Mechanical Properties of a Variety of Polymer AM-Created Triply Periodic Minimal Surface Structures
Authors: Temiz Abdurrahim 
Published: September 2023

Abstract
This research aimed to determine how different pattern types (TPMS) and build orientations affected the mechanical properties of test specimens made with masked stereolithography (MSLA) and a commercially available gray resin. Moreover, the study aimed to determine the best TPMS pattern type and build orientation to enhance both UTS and elongation at break. For the purpose of experimental assessment of their tensile qualities, samples of the Gyroid lattice, Schwarz Primitive lattice, and Schwarz Diamond lattice structures were 3D printed using SLA technology. The results of producing on the on edge, upright and flat orientations of a building were compared. The results showed that across all three building orientations, the D-shaped component produced the highest UTS and the P-shaped component produced the largest elongation. It's apparent that the upright position produced the smallest UTS. When comparing the UTS and elongation at break between the flat and on-edge constructed orientations, it is clear that the former is lower.