bluuebunny/crossref_metadata_2025_split huggingface dataset:
A novel ATAD3 duplication in a Chinese patient with epilepsy and hyperlactacidemia expands the range of clinical phenotype of 1p36.33 duplication syndrome
Authors: Jiang Lihua , Hua Yi , Xu Ke , Zhang Weiran , Sheng Guoxia , Xu Lu , Liu Liu , Wang Yilong , Mao Shanshan , Gao Feng , wang shugang , Yuan Zhefeng 
Published: August 2023

Abstract
Background
Heterozygous duplication within the ATAD3 gene cluster can cause autosomal dominant chromosome 1p36.33 duplication syndrome, a rare and fatal multisystemic disorder, characterized by lethal perinatal cardiomyopathy, persistent hyperlactacidemia, and corneal clouding or cataracts, resulting in death in the first weeks of life.
Methods
Herein, we report a case of a 4-month, 27-day-old Chinese boy with only epilepsy and hyperlactacidemia who died at 6 months and 17 days of epilepsia partialis continua. The patient’s DNA was sequenced using whole-exome sequencing and whole-genome sequencing.
Results
We identified a de novo heterozygous duplication in the ATAD3 locus with breakpoints in exon 8 of ATAD3A and intron 3 of ATAD3C, creating a fusion gene, ATAD3A‒C, which codes for dozens of amino acid changes compared to that by ATAD3A.
Conclusion
We identified a de novo duplication in the ATAD3 locus in a Chinese boy. Contrary to previous case studies, the main clinical features were epilepsy and hyperlacticaemia. He survived for more than 6 months without lethal perinatal cardiomyopathy and corneal clouding or cataracts.
Sensitivity analysis and response surface optimization for process- product characteristics of refractance window dried Curcuma longa
Authors: Talukdar Preetisagar , Baruah Kamal Narayan , Uppaluri Ramagopal V.S. 
Published: August 2023

Abstract
This work addresses the sensitivity and optimality of process product characteristics of refractance window dried Curcuma longa. Based on response surface methodology, parameters such as water bath temperature (65–95°C), drying time (75–360 min) and air-velocity (0.5–1 m/s) have been optimized to achieve best combinations of total phenolic content, total flavonoids content, curcumin content, antioxidant activity, moisture content, and colour indices. The best fit model, influence of independent variables on dependent variables and analysis of variance were considered. The optimized conditions for temperature, drying time, and air velocity were found as 95°C, 75 min, and 0.76 m/s respectively. The results indicated novel optimized conditions for refractance window drying of Curcuma longa in terms of antioxidant activity, total phenolic content, total flavonoid content, curcumin concentration, moisture content, and colour indices. The findings affirmed greater sensitivity of water bath temperature and drying time but not air-velocity.
Seasonality of influenza incidences and its influence on meteorological factors and PM10 in Bangkok, Thailand during 2003-2019
Authors: Anupong Suparinthon , Modchang Charin , CHADSUTHI Sudarat 
Published: August 2023

Abstract
This study investigates the seasonality pattern and association between meteorological factors and particulate matter (PM10) concentration, and influenza incidence in Bangkok, Thailand. We analyze monthly averaged temperature, relative humidity, precipitation, PM10 concentrations, and influenza cases collected from 2003 to 2019 using wavelet analysis and a generalized additive model (GAM). The wavelet transforms analysis shows the periodic patterns of influenza with distinct periods of 0.5 years prior to the influenza pandemic in 2009 and 0.5 and 1 year following the pandemic, demonstrating an important shift after the 2009 pandemic. The result also reveals a significant coherence between climate factors, PM10, and influenza incidence. By using the maximum lag time obtained from the wavelet analysis, our GAM model shows the linear relationships between PM10, relative humidity, precipitation, and influenza incidence, whereas temperature exhibits a nonlinear relationship with influenza cases. These findings contribute to a better understanding of the temporal dynamics of influenza seasonality driven by climate factors and PM10 during the past 17 years. This knowledge would be useful for planning clinical resources and supporting public health under the climate situation in Thailand.
Evaluation of satellite remote sensing-based crop evapotranspiration models over a semi-arid irrigated agricultural farm
Authors: Ghosh Tridiv , Chakraborty Debashis , Das Bappa , Sehgal Vinay K , Mukherjee Joydeep , Roy Debasish , Rathore Pooja , Dhakar Rajkumar 
Published: August 2023

Abstract
The measurement of evapotranspiration (ET) is essential in maintaining the energy and water balance in agricultural ecosystems, and it plays a vital role in the hydrological cycle. Precision irrigation water management requires accurate spatiotemporal coverage of crop ET across the farm. Fortunately, with the availability of multi-temporal high-resolution satellite datasets and remote sensing-based surface energy balance (SEB) models, near-real-time estimation of ET is now possible. A recent study evaluated and compared the performance of several SEB models, including the Surface Energy Balance Algorithm for Land (SEBAL), Surface Energy Balance Index (SEBI), Surface Energy Balance System (SEBS), Simplified Surface Energy Balance (SSEB), Simplified-Surface Energy Balance Index (SSEBI), and Two Source Energy Balance (TSEB) models over semi-arid irrigated farms in India. The study used 24 Landsat images captured during the post-monsoon seasons of 2021-22 and 2022-23. The statistical evaluation revealed that SEBAL had the best overall performance (r = 0.91, MBE= -0.48 mm d− 1, MAE = 0.42 mm d− 1 and RMSE = 0.51 mm d− 1), followed by SSEB, TSEB, SSEBI, SEBI, and SEBS, respectively. While SEBAL, SSEB, S-SEBI, and TSEB models performed similarly, SEBI and SEBS consistently underestimated ET over the season. The spatiotemporal map was also used to evaluate the model's performance, and it could accurately differentiate between ET over less water-intensive pulses and water-intensive wheat fields on the farm. Despite discrepancies among the SEB models, SEBAL can still be an operational tool for mapping ET with high accuracy and sufficient variation across pixels, making it an ideal option for incorporating into irrigation scheduling over semi-arid farms.
HybridGCN for Protein Solubility Prediction 1 with Adaptive Weighting of Multiple Features
Authors: Chen Long , Wu Rining , Zhou Feixiang , Zhang Huifeng , Liu Jian K. 
Published: August 2023

Abstract
The solubility of proteins is a key factor in pharmaceutical research and production. To improve production efficiency and reduce experimental costs, there is a need for computational models that can accurately predict solubility from given datasets. Previous studies have used deep learning models and feature engineering techniques to extract features from raw protein sequences for solubility prediction. However, these approaches have not explored the interrelations between features or their relative importance. This study introduces HybridGCN, a novel Hybrid Graph Convolutional Network that improves solubility prediction accuracy by combining various features, including advanced deep-learning features and classic biophysical features. Through an exploration of the interplay between deep-learning features and biophysical features, it was found that certain biophysical features, particularly evolutionary features, complement the features extracted by advanced deep-learning models. To further enhance the model's capacity for feature representation, ESM, a large protein language model, was used to extract a zero-shot learning feature that captures comprehensive and relevant information related to protein functions and structures. Additionally, a novel feature fusion module called Adaptively Feature Re-weighting (AFR) was proposed to integrate multiple features, allowing for the adjustment of feature importance. Ablation experiments and comparisons demonstrate the effectiveness of the HybridGCN approach, achieving state-of-the-art performance on the public eSOL dataset.
Enhancement of Mechanical Performance and Swelling Resistance in Silicone Rubber through Reinforcement with γ-Methacryloxypropyltrimethoxysilane-Modified Halloysite Nanotubes
Authors: Govindan K , Ramabalan S , Vishvanathperumal S 
Published: August 2023

Abstract
The halloysite nanotubes (HNTs) underwent effective surface treatment using γ-methacryloxypropyltrimethoxysilane (γ-MPS), which facilitated interactions with the aluminol and silanol groups present on the edges and surfaces of the nanotubes. The treated HNTs (mHNTs) were utilized to prepare nanocomposites with silicone rubber vulcanizate. The application of γ-MPS modification aimed to enhance interactions between the surfaces and tubules. This enhancement resulted in a higher crosslinking density and improved dispersion of HNTs within the silicone rubber matrix. To assess the influence of mHNT loading on diverse facets of the resultant rubber nanocomposites, a comprehensive analysis was carried out, covering parameters such as cure characteristics, compression set, swelling behavior, abrasion resistance, and mechanical properties, with precise measurements conducted via the oscillating disc rheometer (ODR), solvent immersion technique, DIN abrader, and tensile testing. Overall, the addition of mHNTs significantly enhanced the characteristics and performance of the silicone rubber nanocomposites. This research underscores the effectiveness of mHNTs as reinforcing agents, opening new avenues for enhancing the qualities of silicone rubber-based materials across diverse applications. The incorporation of mHNTs led to improvements in the tensile modulus, strength, and tear strength of the nanocomposites. Additionally, the silicone rubber/mHNTs nanocomposites exhibited enhanced resistance to swelling due to their robust inter-tubular contacts. The results obtained were analyzed in the context of the samples' microstructure, as examined through FESEM analyses.
Outcome in methadone maintenance treatment of immigrants from the former Union of Soviet Socialist Republics
Authors: Ayali Noya , Sason Anat , Adelson Miriam , Peles Einat 
Published: August 2023

Abstract
Immigrants from the former Union of Soviet Socialist Republics (USSR) are more prevalent in Methadone maintenance treatment (MMT) in Israel than their percentage in the general population.
Aims: To compare their characteristics and outcome to that of Israeli-born and other immigrant patients.
Methods: Retention and survival since admission (June/1993 – Dec/2022) until leaving treatment (for retention), or at the end of follow-up were analyzed. Vital data was taken from a national registry. Predictors were estimated using Kaplan-Meier and Cox regression models.
Results: The USSR patients (N=266) compared with other immigrants (N=126) and Israeli-born (N=689) were more educated (≥12y) (p<0.001), admitted to MMT at a younger age (p<0.001), following a shorter duration of opioid usage (p<0.001). More of them ever injected drugs (p<0.001) and ever drank alcohol (p<0.001). One-year retention was comparable (77.2% vs. 75.6% and 72%, p=0.2) as did opioids discontinuation in those who stayed (p=0.2). Former USSR patients had longer cumulative retention of their first admission (p=0.05) with comparable overall retention since first admission, and survival, although the age of death was younger. Specific origin found immigrants from the Russian Federation with the best outcome, and those from Ukraine as having high HIV seropositive and shorter retention.
Conclusions: Despite several characteristics known to associate with poor outcomes, USSR immigrants showed better adherence to MMT, reflected by their longer cumulative retention in their first admission, lower rate of readmissions, and a comparable survival and overall retention in treatment. Intensive medical and psychiatric intervention to prevent young age deceased is recommended.
Non-targeted metabolomics and transcriptomics reveal mechanisms of metabolic differences among roots, stems, and leaves of Cudrania tricuspidata caryophyllata
Authors: Ding Zikang , Zhao Meng , Li Xinyue , Wang Xiaomei , Zhang Zhongshan 
Published: August 2023

Abstract
Background
Cudrania tricuspidata is a traditional Chinese medicinal herb with a long history of application, and has a variety of active ingredients and pharmacological effects. In order to expand the source of new drugs, we analysed the metabolomic and transcriptomic profiles of different tissues of Cudrania. The genetic basis for the accumulation of active ingredients was analysed, providing a theoretical basis for high-quality cultivation of Cudrania.
Results
We detected a total of 1254 metabolites from the three tissues of Cudrania roots, stems, and leaves, and all metabolites were annotated and classified into eight categories by the KEGG database: steroids, lipids, antibiotics, vitamins and cofactors, nucleic acids, peptides, carbohydrates, and organic acids. Flavonoid-rich roots and stems of Cudrania were significantly different from the transcripts of leaves. GO and KEGG enrichment analyses revealed that the differential genes were mainly enriched in Photosynthesis - antenna proteins, Zeatin biosynthesis, Flavone and flavonol biosynthesis, Monoterpenoid biosynthesis pathway. The expression of flavonoid and flavonol biosynthesis-related genes was significantly up-regulated in roots and stems. From the perspective of the differences in metabolites among roots, stems and leaves of Cudrania, it can provide a basis for revealing the material basis of the differences in medicinal properties and efficacy of different parts.
Conclusion
These results indicate that Cudrania is a promising medicinal plant and provide important information for the identification of differential metabolites and major metabolic pathways among different parts of Cudrania, as well as a theoretical reference for the effective use of Cudrania resources.
Mucor circinelloides as an entomopathogenic fungus on melon weevil (Acytopeus curvirostris persicus) from Iran
Authors: Sepasi Narges , Jahani Mehdi , Mirzaee MohammadReza , Mohammdpour kazem 
Published: August 2023

Abstract
Melon weevil, Acytopeus curvirostris persicus Thompson (Col.: Curculionidae), is one of the most important pests of melons that is spread in the Middle East countries. Through sampling from different parts of south Khorasan province, in April to October, a species belonging to the genus Mucor was isolated from mycoses adult melon weevil of A. curvirostris persicus. Identification of fungi was performed using morphological and molecular features and pathogenicity test was done to fulfill Koch's postulates. To perform pathogenicity test, two purified isolates of the mentioned fungus with adjusted spore concentration were sprayed as suspension on the larvae and adult melon weevil. Based on results of morphological data and sequencing of ITS region of ribosomal DNA, fungal specimens was identified as Mucor circinelloides. The results on the pathogenicity (50% mortality on melon weevil larvae and 33% on adults, 10 days after inoculation) demonstrated that M. circinelloides can be considered as a potential biocontrol agent against the melon weevil. Field experiments are still required to evaluate the capacity of genus Mucor circinelloides as a safe biological control.
Clinical analysis of 12 cases of ovarian neuroendocrine carcinoma
Authors: Xing Xiaoyu , Zhang Wei , Liu Liya , Han Liping 
Published: August 2023

Abstract
Background
Neuroendocrine neoplasms (NENs) of the female genital tract are rare. This study aims to enhance our clinical understanding of neuroendocrine carcinoma of the ovary.
Methods
A retrospective review was conducted on 12 patients diagnosed with neuroendocrine carcinoma of the ovary, analyzing clinicopathological characteristics, treatment modalities, and survival status.
Results
The median age at diagnosis was 34.5 years (range: 20 to 62 years). Among the 12 cases, 9 were small cell carcinoma of the ovary (SCCO) and 3 were large cell neuroendocrine carcinoma (LCNEC). Five cases were stage I tumors, one case was stage IV, and six cases were stage III. Eleven patients underwent surgery as part of their treatment. All patients received adjuvant chemotherapy. Among the 12 patients, one patient received radiotherapy, and one patient with a BRCA2 mutation was administered PARP inhibitor maintenance after chemotherapy. The median progression-free survival was 13 months, and the median overall survival was 19.5 months. Four cases remained disease-free, while eight cases experienced tumor recurrence, including three cases that resulted in death due to disease recurrence.
Conclusion
Neuroendocrine carcinoma of the ovary is a rare condition that is more common in women of childbearing age and is associated with aggressive behavior and poor clinical outcomes. Surgical resection remains the mainstay of treatment, with some patients benefiting from adjuvant chemoradiation therapy.
WHO Surgical Checklist in Transplant Surgery: Still another tick box exercise? Results from a Closed Loop Audit at a Medium-Sized Transplant Centre
Authors: Caddy Elliott , Clouser Olivia , Cross Harry , Odugoudar Avinash , Devkaran Bhavesh , Kapoor Kunal , Sharma A , Mehra Sanjay , Sharma Hemant 
Published: August 2023

Abstract
Background: There is compelling evidence that effective teamwork can significantly reduce adverse events in medical settings. Our 2014 audit revealed that the adherence to the WHO Surgical Checklist for renal transplant and vascular access procedures was less than optimal.
Objective: The aim of this re-audit was to quantitatively evaluate any changes in practice since the 2014 findings and recommendations.
Methods: Theatre personnel, comprising surgeons, nurses, and anaesthetists, were spontaneously queried regarding patient and staff details both intra-operatively and post-operatively, as outlined in the WHO Checklist. This was done across 54 surgical sessions with the Transplant Team. Importantly, staff were unaware of this impromptu survey, mitigating the potential for the Hawthorne effect.
Results: The Checklist was rigorously adhered to in 100% of the operations (N=54) across all specified phases (Pre-anaesthesia induction - "Check-in"; Pre-skin incision - "Time out"; Prior to patient exiting the theatre - "Sign out"). These results were benchmarked against the 2014 study. While there was a statistically significant improvement in the recall of the patient's ID and the primary surgeon's name, the name of the assisting surgeon was not remembered in 78% of the queries. Moreover, full retention of the anaesthetist's and scrub nurse's IDs was not achieved. Notably, no intraoperative "never events" or near-miss incidents were recorded in either cohort.
Conclusions: While there was complete adherence to reading the checklist in all operations, the retention of specific details by staff was inconsistent. Although there has been noticeable progress in information retention since 2014, there remains a considerable need for enhancement.
Dapagliflozin improved ventricular remodeling and depressive behavior in post-infarction depressed rats through SIRT1/NLRP3 signal
Authors: wang xiukun , Zhou Jining , Zhao Xin , Han Xueyu , Sun Yazhou , Xu Shengnan , Qu Chuan , Liu Xin , Yang Bo 
Published: August 2023

Abstract
Myocardial infarction(MI)is often associated with depression. Studies have shown that Dapaglifozin(DAPA) has a dual protective effect on Cardiac function and depression. This study aimed to determine the protective effect of DAPA in post-myocardial infarction depression༈Post-MI depression༉rats. Male Sprague-Dawley rats were divided into 5 groups: Control, Myocardial infarction, Depression, Post-MI depression, and Post-MI depression + DAPA groups. The effects of DAPA were detected by echocardiography, hemodynamic tests, behavioral tests, Sirius red staining, H&E staining, enzyme-linked immunosorbent assay (ELISA), immunohistochemistry, fluorimetry, and Flow cytometry. We also cultured rat h9c2 cardiomyocytes in vitro to verify the mechanism of action. We found that taking DAPA significantly improved cardiac function and depressive behavior in rats after myocardial infarction. In addition, DAPA could reduce pyroptosis by upregulating of SIRT1 and downregulating of NOD-like receptor thermal protein domain associated protein 3 (NLRP3) inflammasome. In vitro experiments, we found that a specific SIRT1 inhibitor can significantly reverse pyroptosis in infarcted myocardial cells. This further indicated that the improvement of DAPA in rats with post-myocardial infarction depression is dependent on the SIRT1/NLRP3 pathway.
The Role of Cobalt Ferrites Nanoparticles on Structural and Electrochmical Properties of Mesoporous Silica for Supercapacitor Applications
Authors: Salama Reda. S. , Alshammari Riyadh H. , Nafady Ayman , Soomro Razium Ali , Gouda Mostafa S. , Awad Fathi S. 
Published: August 2023

Abstract
The research focus in energy storage applications has shifted towards mesoporous silica (MCM-41) material due to its distinct surface, chemical, and electronic properties. However, the electrodes made from mesoporous silica in supercapacitors are unable to meet the growing request for high energy density in electronic devices. To address this limitation, researchers have explored modifying the material with metal oxides, heteroatoms, and conductive polymers, which can provide pseudo-capacitance during charging and discharging processes, thereby enhancing energy density. Among the various materials investigated, ferrite materials, particularly cobalt ferrites (COF), have shown promising electrochemical properties. Nevertheless, their low internal conductivity hinders their usage in supercapacitor applications. Consequently, combining ferrites with MCM-41 has been proposed as a means to enhance the electrochemical behavior. In this study, various contents of COF were loaded on MCM-41. Different characterization methods were used to study the physical and surface properties of the as synthesized materials like XRD, FTIR, SEM, TEM, EDX and SEM-mapping. TEM images confirmed that all the as-synthesized composites retained the mesoporous structure, and the particle size of ferrites ranged from 8 to 14 nm. The cyclic voltammetry (CV) and galvanostatic charge-discharge (GCD) techniques were employed to investigate the electrochemical characteristics of the composite materials in H2SO4 electrolyte solution (1.0 M) and a potential window ranging from 0.0 to 0.8 V. The results demonstrated that the incorporation of ferrites onto MCM-41 led to an elevation in specific capacitance, with the highest value (746 F.g-1) observed at 35 COF-MCM-41 composite. However, further increasing the content of ferrites resulted in a decrease in specific capacitance. Furthermore, the prepared composites exhibited excellent cycling stability even after 5000 cycles, with MCM-41, COF, and 35 COF-MCM-41 retaining 84.4%, 89.4%, and 94.8% of their initial specific capacitance, respectively. These findings highlight the significant role played by the dispersion of cobalt ferrite nanoparticles in enhancing pseudocapacitance behavior, thus improving the overall electrochemical performance of the composites.