bluuebunny/crossref_metadata_2025_split huggingface dataset:
Risk of thyroid neoplasms in patients with 22q11.2 deletion and DiGeorge-like syndromes: an insight for follow-up
Authors: Sarli Walter Maria , Ricci Silvia , Lodi Lorenzo , Cavone Federica , Pacillo Lucia , Giancotta Carmela , Ubertini Graziamaria , Baroncelli Giampiero , Cancrini Caterina , Azzari Chiara , Stagi Stefano 
Published: August 2023

IntroductionThe chromosome 22q11.2 deletion syndrome comprises phenotypically similar diseases characterized by abnormal development of the third and fourth branchial arches, resulting in variable combinations of congenital heart defects, dysmorphisms, hypocalcemia, palatal dysfunction, developmental or neuropsychiatric disorders, and impairment of the immune system due to thymic dysfunction. Other genetic syndromes, often called DiGeorge-like, share clinical and immunological features with 22q11.2 deletion syndrome. This syndrome has been rarely associated with malignancies, mainly hematological but also hepatic, renal, and cerebral. Rarely, malignancies in the head and neck region have been described, although no aggregate of data on the development of thyroid neoplasms in patients with this clinical phenotype has been conducted so far.Materials and methodsTo characterize this possible association, a multicenter survey was made. Thus, we present a case series of five pediatric patients with 22q11.2 deletion syndrome or DiGeorge-like syndrome who were occasionally found with confirmed or highly suspected neoplasms of the thyroid gland during their follow-up. In three cases, malignancies were histologically confirmed, but their outcome was good due to an early recognition of suspicious nodules and precocious surgery.ConclusionsThis study underlines for clinicians the higher risk of neoplasms in the head and neck district for patients affected by these syndromes. It also emphasizes the importance of a prolonged clinical and ultrasound follow-up for patients with this clinical and immunological phenotype.
Artificial oocyte activation with Ca2+ ionophore improves reproductive outcomes in patients with fertilization failure and poor embryo development in previous ICSI cycles
Authors: Ruan Jing Ling , Liang Shan Shan , Pan Jia Ping , Chen Zhi Qin , Teng Xiao Ming 
Published: August 2023

Research questionDoes artificial oocyte activation (AOA) by a calcium ionophore (ionomycin) improve the previous fertilization failure or poor embryo development of intracytoplasmic sperm injection (ICSI) account for male factor infertility or other infertility causes?DesignThis retrospective study involved 114 patients receiving ICSI-AOA in Shanghai First Maternity and Infant Hospital with previous ICSI fertilization failure or poor embryo development. The previous ICSI cycles of the same patients without AOA served as the control group. The fertilization rates, cleavage rates, transferable embryo rates and blastocyst formation rates of the two groups were compared. Additionally, the clinical pregnancy, implantation rate and live birth rates were also compared to assess the efficiency and safety of AOA. Furthermore, two subgroup analyses were performed in this study based on the cause of infertility and the reason for AOA. The fertilization rate, embryonic development potential and clinical outcome were compared among groups.ResultsAmong 114 ICSI-AOA cycles, the fertilization rate, top-quality embryo rate, implantation rate, clinical pregnancy per patient and live birth rate per patient were improved significantly compared with previous ICSI cycles (p&lt;0.05 to P&lt; 0.001), and the miscarriage rate in the AOA group was significantly lower than that of the control group (p&lt;0.001). In the AOA subgroups based on the cause of infertility, the fertilization rates of each subgroup were significantly improved compared with previous control cycles except for the mixed factor infertility subgroup (p&lt;0.05 to p&lt;0.001). In the AOA subgroups based on the reason for AOA, the fertilization rates of each subgroup were significantly increased compared with those in their previous ICSI cycle without AOA (p&lt;0.001); however, there was no significant difference in the top-quality embryo rate. No significant improvement was found in the implantation rates and the clinical pregnancy rate in each subgroup except for the poor embryo development subgroup. In the 114 AOA cycles, 35 healthy infants (21 singletons and 7 twins) were delivered without major congenital birth defects or malformations.ConclusionThis study showed that AOA with the calcium ionophore ionomycin can improve the reproductive outcomes of patients with previous fertilization failure and poor embryo development after ICSI.
Prognostic and tumor microenvironmental feature of clear cell renal cell carcinoma revealed by m6A and lactylation modification-related genes
Authors: Yang Lin , Wang Xiaoyu , Liu Jiahao , Liu Xiaoqiang , Li Sheng , Zheng Fuchun , Dong Qianxi , Xu Songhui , Xiong Jing , Fu Bin 
Published: August 2023

BackgroundBoth lactylation and m6A modification have important implications for the development of clear cell renal cell carcinoma (ccRCC), and we aimed to use crosstalk genes of both to reveal the prognostic and immunological features of ccRCC.MethodsOur first step was to look for lactylation-related genes that differed between normal and tumor tissues, and then by correlation analysis, we found the genes associated with M6A. Following that, ccRCC subtypes will be identified and risk models will be constructed to compare the prognosis and tumor microenvironment among different subgroups. A nomogram was constructed to predict the prognosis of ccRCC, and in vitro, experiments were conducted to validate the expression and function of key genes.ResultsWe screened 100 crosstalk genes and identified 2 ccRCC subtypes. A total of 11 prognostic genes were screened for building a risk model. we observed higher immune scores, elevated tumor mutational burden, and microsatellite instability scores in the high-risk group. Therefore, individuals classified as high-risk would derive greater benefits from immunotherapy. The nomogram’s ability to predict overall survival with a 1-year AUC of 0.863 demonstrates its significant practical utility. In addition, HIBCH was identified as a potential therapeutic target and its expression and function were verified by in vitro experiments.ConclusionIn addition to developing a precise prognostic nomogram for patients with ccRCC, our study also discovered the potential of HIBCH as a biomarker for the disease.
Quantifying the contribution of temperature, salinity, and climate change to sea level rise in the Pacific Ocean: 2005-2019
Authors: Ran Junlin , Chao Nengfang , Yue Lianzhe , Chen Gang , Wang Zhengtao , Wu Tangting , Li Chengchun 
Published: August 2023

In recent decades, Pacific Ocean’s steric sea level anomaly (SSLA) has shown prominent patterns among global sea level variations. With ongoing global warming, the frequency and intensity of climate and sea level changes have increased, particularly in the tropical Pacific region. Therefore, it is crucial to comprehend the overall trends and mechanisms governing volumetric sea level changes in the Pacific. To accurately quantify the spatiotemporal evolution characteristics of density-driven sea level change in the Pacific Ocean (PO) from 2005 to 2019, we decomposed temperature and salinity into linear trends, interannual variations, seasonal variations, and residual terms using the STL (seasonal-trend decomposition based on loess) method. To evaluate the influence of ocean temperature, salinity, and climate change on density-driven sea level change and its underlying mechanisms, we decompose temperature as well as salinity changes through into the Heaving (vertical displacements of isopycnal surfaces) and Spicing (density-compensated temperature and salinity change) modes. The findings reveal an average steric sea level rise rate of 0.34 ± 0.16 mm/yr in the PO from 2005 to 2019. Thermosteric sea-level accounts for 82% of this rise, primarily due to seawater temperature rise at depths of 0-700 m caused by Heaving mode changes. Accelerated SSLA increase via the thermosteric effect has been connected to interactions between greater Ekman downwelling from surface winds, radiation forcing linked to global greenhouse gases, and changes in the Pacific warm currents triggered by El Niño-Southern Oscillation (ENSO) episodes. Although salinity is affected by the Subantarctic Mode Water (SAMW) and the Antarctic Intermediate Water (AAIW) in the southern Indian Ocean, however the significance of salinity in sea level change is little compared to the role played by thermocline shift. This study offers a substantial contribution to the field, providing robust data and technical support, and facilitating a deeper understanding of the mechanisms underlying the effects of temperature and salinity on sea level changes during periods of rapid climate change, thus enhancing the accuracy of future predictions regarding sea level rise.
Exploratory study of a multifrequency EIT-based method for detecting intracranial abnormalities
Authors: Ma Jieshi , Guo Jie , Li Yang , Wang Zheng , Dong Yunpeng , Ma Jianxing , Zhu Yan , Wu Guan , Yi Liang , Shi Xuetao 
Published: August 2023

ObjectiveThe purpose of this paper is to compare the differences in the features of multifrequency electrical impedance tomography (MFEIT) images of human heads between healthy subjects and patients with brain diseases and to explore the possibility of applying MFEIT to intracranial abnormality detection.MethodsSixteen healthy volunteers and 8 patients with brain diseases were recruited as subjects, and the cerebral MFEIT data of 9 frequencies in the range of 21 kHz - 100 kHz of all subjects were acquired with an MFEIT system. MFEIT image sequences were obtained according to certain imaging algorithms, and the area ratio of the ROI (AR_ROI) and the mean value of the reconstructed resistivity change of the ROI (MVRRC_ROI) on both the left and right sides of these images were extracted. The geometric asymmetry index (GAI) and intensity asymmetry index (IAI) were further proposed to characterize the symmetry of MFEIT images based on the extracted indices and to statistically compare and analyze the differences between the two groups of subjects on MFEIT images.ResultsThere were no significant differences in either the AR_ROI or the MVRRC_ROI between the two sides of the brains of healthy volunteers (p &gt; 0.05); some of the MFEIT images mainly in the range of 30 kHz – 60 kHz of patients with brain diseases showed stronger resistivity distributions (larger area or stronger signal) that were approximately symmetric with the location of the lesions. However, statistical analysis showed that the AR_ROI and the MVRRC_ROI on the healthy sides of MFEIT images of patients with unilateral brain disease were not significantly different from those on the affected side (p &gt; 0.05). The GAI and IAI were higher in all patients with brain diseases than in healthy volunteers except for 80 kHz (p &lt; 0.05).ConclusionThere were significant differences in the geometric symmetry and the signal intensity symmetry of the reconstructed targets in the MFEIT images between healthy volunteers and patients with brain diseases, and the above findings provide a reference for the rapid detection of intracranial abnormalities using MFEIT images and may provide a basis for further exploration of MFEIT for the detection of brain diseases.
Machine learning accurately predicts food exchange list and the exchangeable portion
Authors: Hernández-Hernández David Jovani , Perez-Lizaur Ana Bertha , Palacios-González Berenice , Morales-Luna Gesuri 
Published: August 2023

IntroductionFood Exchange Lists (FELs) are a user-friendly tool developed to help individuals aid healthy eating habits and follow a specific diet plan. Given the rapidly increasing number of new products or access to new foods, one of the biggest challenges for FELs is being outdated. Supervised machine learning algorithms could be a tool that facilitates this process and allows for updated FELs—the present study aimed to generate an algorithm to predict food classification and calculate the equivalent portion.MethodsData mining techniques were used to generate the algorithm, which consists of processing and analyzing the information to find patterns, trends, or repetitive rules that explain the behavior of the data in a food database after performing this task. It was decided to approach the problem from a vector formulation (through 9 nutrient dimensions) that led to proposals for classifiers such as Spherical K-Means (SKM), and by developing this idea, it was possible to smooth the limits of the classifier with the help of a Multilayer Perceptron (MLP) which were compared with two other algorithms of machine learning, these being Random Forest and XGBoost.ResultsThe algorithm proposed in this study could classify and calculate the equivalent portion of a single or a list of foods. The algorithm allows the categorization of more than one thousand foods with a confidence level of 97% at the first three places. Also, the algorithm indicates which foods exceed the limits established in sodium, sugar, and/or fat content and show their equivalents.DiscussionAccurate and robust FELs could improve implementation and adherence to the recommended diet. Compared with manual categorization and calculation, machine learning approaches have several advantages. Machine learning reduces the time needed for manual food categorization and equivalent portion calculation of many food products. Since it is possible to access food composition databases of various populations, our algorithm could be adapted and applied in other databases, offering an even greater diversity of regional products and foods. In conclusion, machine learning is a promising method for automation in generating FELs. This study provides evidence of a large-scale, accurate real-time processing algorithm that can be useful for designing meal plans tailored to the foods consumed by the population. Our model allowed us not only to distinguish and classify foods within a group or subgroup but also to perform the calculation of an equivalent food. As a neural network, this model could be trained with other food bases and thus improve its predictive capacity. Although the performance of the SKM model was lower compared to other types of classifiers, our model allows selecting an equivalent food not from a group previously classified by machine learning but with a fully interpretable algorithm such as cosine similarity for comparing food.
A combined immunopeptidomics, proteomics, and cell surface proteomics approach to identify immunotherapy targets for diffuse intrinsic pontine glioma
Authors: Pandey Kirti , Wang Stacie S. , Mifsud Nicole A. , Faridi Pouya , Davenport Alexander J. , Webb Andrew I. , Sandow Jarrod J. , Ayala Rochelle , Monje Michelle , Cross Ryan S. , Ramarathinam Sri H. , Jenkins Misty R. , Purcell Anthony W. 
Published: August 2023

IntroductionDiffuse intrinsic pontine glioma (DIPG), recently reclassified as a subtype of diffuse midline glioma, is a highly aggressive brainstem tumor affecting children and young adults, with no cure and a median survival of only 9 months. Conventional treatments are ineffective, highlighting the need for alternative therapeutic strategies such as cellular immunotherapy. However, identifying unique and tumor-specific cell surface antigens to target with chimeric antigen receptor (CAR) or T-cell receptor (TCR) therapies is challenging.MethodsIn this study, a multi-omics approach was used to interrogate patient-derived DIPG cell lines and to identify potential targets for immunotherapy.ResultsThrough immunopeptidomics, a range of targetable peptide antigens from cancer testis and tumor-associated antigens as well as peptides derived from human endogenous retroviral elements were identified. Proteomics analysis also revealed upregulation of potential drug targets and cell surface proteins such as Cluster of differentiation 27 (CD276) B7 homolog 3 protein (B7H3), Interleukin 13 alpha receptor 2 (IL-13Rα2), Human Epidermal Growth Factor Receptor 3 (HER2), Ephrin Type-A Receptor 2 (EphA2), and Ephrin Type-A Receptor 3 (EphA3).DiscussionThe results of this study provide a valuable resource for the scientific community to accelerate immunotherapeutic approaches for DIPG. Identifying potential targets for CAR and TCR therapies could open up new avenues for treating this devastating disease.
Diabetes and two kinds of primary tumors in a patient with thalassemia: a case report and literature review
Authors: Yu Xiaoyan , Peng Yi , Nie Tingting , Sun Wenjia , Zhou Yajuan 
Published: August 2023

BackgroundThalassemia is a group of common genetic hematologic disorders characterized by deficient synthesis of the hemoglobin chain. Due to effective blood transfusion and optimization of chelate therapy, the survival of thalassemia patients and their overall quality of life have improved noticeably in the past few decades. As a consequence, the longer life expectancy has led to the manifestation of several concomitant morbidities, including heart disease, infections, cirrhosis, endocrine abnormalities, various malignancies, and so on. In this context, the probability and updated literature about some malignancy cases in patients with thalassemia build new scenarios for the next few years. We describe the first report of a thalassemic patient developing diabetes and head and neck cancer and try to summarize the possible predisposing factors and mechanisms behind their phenomenon.Case presentationThe current case report describes a 50-year-old Asian man who has been diagnosed with thalassemia since childhood. In early 2017, he was also diagnosed with diabetes and started on insulin-hypoglycemic treatment. The patient was then diagnosed with primary non-keratinizing undifferentiated carcinoma of the nasopharynx in late February 2013. A biopsy of the left tongue revealed squamous cell carcinoma (SCC) in late March 2019.ConclusionsWe report the first case of a thalassemic patient developing diabetes and squamous cell carcinoma of the head and neck and discuss the possibility of a link between the three diseases. This specific case should alert physicians to the possibility of endocrinopathy and malignancy in thalassemic patients.
Chronic thoracic pain after cardiac surgery: role of inflammation and biomechanical sternal stability
Authors: Madjarov Jeko M. , Katz Michael G. , Hadas Yoav , Kim Sofia Jisoo , Freage-Kahn Lina , Madzharov Svetozar , Vincek Adam , Madjarova Sophia J. , Seidman Piers , Shtraizent Nataly , Robicsek Steven A. , Eliyahu Efrat 
Published: August 2023

IntroductionThe pathogenesis of chronic chest pain after cardiac surgery has not been determinate. If left untreated, postoperative sternal pain reduces the quality of life and patient satisfaction with cardiac surgery. The purpose of the study was to examine the effect of chest inflammation on postoperative pain, risk factors for chronic pain after cardiac surgery and to explore how chest reconstruction was associated with the intensity of pain.MethodsThe authors performed a study of acute and chronic thoracic pain after cardiac surgery in patients with and without sternal infection and compared different techniques for chest reconstruction. 42 high-risk patients for the development of mediastinitis were included. Patients with mediastinitis received chest reconstruction (group 1). Their demographics and risk factors were matched with no-infection patients with chest reconstruction (group 2) and subjects who underwent conventional sternal closure (group 3). Chronic pain was assessed by the numeric rating scale after surgery.ResultsThe assessment of the incidence and intensity of chest pain at 3 months post-surgery demonstrated that 14 out of 42 patients across all groups still experienced chronic pain. Specifically, in group 1 with sternal infection five patients had mild pain, while one patient experienced mild pain in group 2, and eight patients in group 3. Also, follow-up results indicated that the highest pain score was in group 3. While baseline levels of cytokines were increased among patients with sternal infection, at discharge only the level of interleukin 6 remained high compared to no infection groups. Compared to conventional closure, after chest reconstruction, we found better healing scores at 3-month follow-up and a higher percentage of patients with the complete sternal union.ConclusionsOverall, 14 out of 42 patients have chronic pain after cardiac surgery. The intensity of the pain in mediastinitis patients significantly decreased at 3 months follow-up after chest reconstruction. Thus, post-surgery mediastinitis is not a determining factor for development the chronic chest pain. There is no correlation between cytokines levels and pain score except interleukin 6 which remains elevated for a long time after treatment. Correlation between sternal healing score and chronic chest pain was demonstrated.
Oral fibroblasts rescue osteogenic differentiation of mesenchymal stem cells after exposure to Zoledronic acid in a paracrine effect
Authors: Berg Tal , Doppelt-Flikshtain Ofri , Coyac Benjamin R. , Zigdon-Giladi Hadar 
Published: August 2023

Background: Medication-related osteonecrosis of the jaw is a serious complication that develops in oncologic patients treated with Zoledronic acid. Although used for over 30 years, the influence of Zoledronic acid on bone has been thoroughly investigated, mainly on osteoclasts. While decreasing osteoclast differentiation and function, for many years it was thought that Zoledronic acid increased osteoblast differentiation, thus increasing bone volume. Moreover, despite the influence of soft tissue on the bone healing process, the impact of zoledronic acid on the interaction between soft tissue and bone was not investigated.Aim: Our goal was to investigate the influence of Zoledronic Acid and soft tissue cells on osteogenic differentiation of mesenchymal stem cells (MSCs).Materials and methods: Osteogenic differentiation of MSCs was examined after exposure to Zoledronic Acid. To determine the influence of soft tissue cells on MSCs’ osteogenic differentiation, conditioned media from keratinocytes and oral fibroblasts were added to osteogenic medium supplemented with Zoledronic Acid. Proteomic composition of keratinocytes’ and fibroblasts’ conditioned media were analyzed.Results: Zoledronic Acid decreased osteogenic differentiation of MSCs by seven-fold. The osteogenic differentiation of MSCs was restored by the supplementation of fibroblasts’ conditioned medium to osteogenic medium, despite Zoledronic acid treatment. Five osteogenic proteins involved in the TGFβ pathway were exclusively identified in fibroblasts’ conditioned medium, suggesting their role in the rescue effect.Conclusion: Oral fibroblasts secrete proteins that enable osteogenic differentiation of MSCs in the presence of Zoledronic Acid.