bluuebunny/crossref_metadata_2025_split huggingface dataset:
Woodhouse-Sakati Syndrome: The New Genetic Variant of DCAF17 In 2 Adult Sisters
Authors: Amosova Maria , Poluboyarinova Irina , Fadeev Valentin , Asanov Aliy 
Published: July 2024

Abstract
Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disorder associated with progressive extrapyramidal signs, mental retardation, alopecia, and a variety of endocrine deficiencies, including diabetes mellitus, hypogonadism, and hypothyroidism. To date, approximately 98 genetically confirmed WSS families have been reported worldwide. This report focuses on a new genetic variant detected in 2 WSS-affected sisters with distinctive phenotypical features. The case under review is of special interest due to the multiple manifestations of WSS. This is the first family case of WSS identified in the Russian Federation. Although there is no specific treatment for WSS, genetic testing makes it possible to diagnose WSS, make a prognosis, and provide comprehensive patient-oriented treatment.
Neonatal Graves Disease Masquerading as Hemochromatosis
Authors: Maggiotto Liesbeth , Mittelman Steven D , Fallah Roja 
Published: July 2024

Abstract
Thyroid autoimmunity is extremely common in the adult population and can affect pregnancy outcomes. Signs in the newborn can range from absent to severe, making the diagnosis easy to miss. We present an interesting case of neonatal Graves disease associated with intrauterine growth restriction, premature delivery, and liver failure with severely high ferritin, thought to be secondary to hemochromatosis. Treatment of the underlying hyperthyroidism caused a rapid resolution of the elevated ferritin and liver failure. This report highlights the importance of considering Graves disease in newborns with liver failure of unknown etiology.
Syngeneic mouse model of YES-driven metastatic and proliferative hepatocellular carcinoma
Authors: Voisin Laure , Lapouge Marjorie , Saba-El-Leil Marc K. , Gombos Melania , Javary Joaquim , Trinh Vincent Q. , Meloche Sylvain 
Published: July 2024

ABSTRACT
Hepatocellular carcinoma (HCC) is a disease of high unmet medical need that has become a global health problem. The development of targeted therapies for HCC has been hindered by the incomplete understanding of HCC pathogenesis and the limited number of relevant preclinical animal models. We recently unveiled a previously uncharacterized YES kinase (encoded by YES1)-dependent oncogenic signaling pathway in HCC. To model this subset of HCC, we established a series of syngeneic cell lines from liver tumors of transgenic mice expressing activated human YES. The resulting cell lines (referred to as HepYF) were enriched for expression of stem cell and progenitor markers, proliferated rapidly, and were characterized by high SRC family kinase (SFK) activity and activated mitogenic signaling pathways. Transcriptomic analysis indicated that HepYF cells are representative of the most aggressive proliferation class G3 subgroup of HCC. HepYF cells formed rapidly growing metastatic tumors upon orthotopic implantation into syngeneic hosts. Treatment with sorafenib or the SFK inhibitor dasatinib markedly inhibited the growth of HepYF tumors. The new HepYF HCC cell lines provide relevant preclinical models to study the pathogenesis of HCC and test novel small-molecule inhibitor and immunotherapy approaches.
Expansion microscopy reveals characteristic ultrastructural features of pathogenic budding yeast species
Authors: Reza Md Hashim , Dutta Srijana , Goyal Rohit , Shah Hiral , Dey Gautam , Sanyal Kaustuv 
Published: July 2024

ABSTRACT
Candida albicans is the most prevalent fungal pathogen associated with candidemia. Similar to other fungi, the complex life cycle of C. albicans has been challenging to study with high-resolution microscopy due to its small size. Here, we employed ultrastructure expansion microscopy (U-ExM) to directly visualise subcellular structures at high resolution in the yeast and during its transition to hyphal growth. N-hydroxysuccinimide (NHS)-ester pan-labelling in combination with immunofluorescence via snapshots of various mitotic stages provided a comprehensive map of nucleolar and mitochondrial segregation dynamics and enabled the resolution of the inner and outer plaque of spindle pole bodies (SPBs). Analyses of microtubules (MTs) and SPBs suggest that C. albicans displays a side-by-side SPB arrangement with a short mitotic spindle and longer astral MTs (aMTs) at the pre-anaphase stage. Modifications to the established U-ExM protocol enabled the expansion of six other human fungal pathogens, revealing that the side-by-side SPB configuration is a plausibly conserved feature shared by many fungal species. We highlight the power of U-ExM to investigate subcellular organisation at high resolution and low cost in poorly studied and medically relevant microbial pathogens.
Asymmetric demodulation using decision trees in gridless WDM systems
Authors: Martinez Zapata Kevin D. , Granada Torres Jhon J. 
Published: July 2024

Different distortions that affect gridless wavelength division multiplexing (WDM) systems due to nonlinear impairments of the optical fiber and linear interchannel interference (ICI) errors cause signal degradation and a decrease in the transmission system quality. Overcoming these effects is a challenge if there is no information about the source of the distortion. In this work, we propose two asymmetric demodulation methods based on decision tree (DT) algorithms to mitigate distortions associated with linear ICI in gridless WDM systems, even when optical channels are spectrally overlapped. The first method uses the conventional DT and random forest (RDF) algorithms adapted to create asymmetrical thresholds in m-QAM digital demodulation. The second method uses the density-based spatial clustering of applications with a noise (DBSCAN) algorithm, including the K-Dimensional tree (K-D tree) algorithm to treat symbols in boundary conditions. Both methods were experimentally validated in a 3×16GBd gridless Nyquist WDM system modulated in 16-QAM with different channel spacing. DT-based demodulation, including RDF, achieved gains up to ∼1.6dB in the FEC limit 3.8×10−3, while demodulation based on DBSCAN plus the K-D tree achieved gains up to ∼1.2dB compared to conventional demodulation. Additionally, we performed a brief latency analysis in comparison to other previous machine learning-based demodulation methods, where DT and RDF presented latency up to ∼0.3% and ∼32% of the DBSCAN + K-D tree latency, respectively. Finally, the proposed asymmetric demodulation methods can improve the performance of future elastic optical networks by offering easy interpretation of the digital demodulation process and the possibility of adapting them to any m-QAM modulation format being agnostic to signal distortion.
Expression of Podocalyxin Potentially Decorated With Low-sulfated Keratan Sulfate in Human Testicular Embryonal Carcinoma
Authors: Muramoto Akifumi , Hoshino Hitomi , Inamura So , Murahashi Masataka , Akama Tomoya O. , Terada Naoki , Kobayashi Motohiro 
Published: July 2024

Summary We previously demonstrated that among various histological types of human testicular germinal cell tumors (GCTs), embryonal carcinoma (EC) preferentially expresses low-sulfated keratan sulfate (KS) consisting of repeating N-acetyllactosamine (LacNAc) disaccharide units composed of galactose and 6- O-sulfated N-acetylglucosamine (GlcNAc), which is recognized by the R-10G antibody. Recently, we generated another anti-low-sulfated KS monoclonal antibody, 294-1B1. Immunohistochemical analysis of testicular GCTs ( n=83) revealed that the low-sulfated KS recognized by 294-1B1 is also preferentially expressed in EC but minimally in other GCT histological types. Moreover, immunolabeling with R-10G and 294-1B1 antibodies was resistant to peptide- N-glycosidase F digestion, and EC was not stained with the MECA-79 antibody, indicating that low-sulfated KS expressed in EC contains mucin-type core 2 O-glycans carrying GlcNAc-6- O-sulfated oligo-LacNAc. Double immunofluorescence staining showed that R-10G and 294-1B1 antibody signals colocalized with those for podocalyxin (PODXL). Furthermore, western blot analysis of recombinant human PODXL•IgG fusion proteins secreted from low-sulfated KS-expressing human embryonic kidney 293T cells revealed that PODXL functions as a core protein for low-sulfated KS. Taken together, these findings strongly suggest that the PODXL glycoform decorated with low-sulfated KS is preferentially expressed in human testicular EC and may therefore serve as a diagnostic marker for this malignancy
Development of culturally-appropriate text message booster content to follow a brief intervention focused on reducing alcohol related harms for injury patients in Moshi, Tanzania
Authors: Staton Catherine A. , Agnihotri Deepti , Phillips Ashley J. , Ngowi Kennedy , Huo Lily , Boshe Judith , Sakita Francis , Tupetz Anna , Suffoletto Brian , Mmbaga Blandina T. , Vissoci Joao Ricardo Nickenig 
Published: July 2024

Alcohol use is a risk factor for death and disability and is attributed to almost one-third of injury deaths globally. This highlights the need for interventions aimed at alcohol reduction, especially in areas with high rates of injury with concurrent alcohol use, such as Tanzania. The aim of this study is to create a culturally appropriate text messages as a booster to a brief negotiational intervention (BNI), to in the Emergency Department of the Kilimanjaro Christian Medical Centre, Moshi, Tanzania. Creation of text message boosters for an ED-based intervention expands the window of opportunity for alcohol use reduction in this high-risk population. The study followed a two-step approach to create the text message content in English and then translate and culturally adapt to Tanzanian Swahili. The culturalization process followed the World Health Organization’s process of translation and adaptation of instruments. Translation, back translation, and qualitative focus groups were used for quality control to ensure text message content accuracy and cultural appropriateness. In total, nearly 50 text messages were initially developed in English, yet only 29 text messages were successfully translated and adapted; they were focused on the themes of Self-awareness, Goal setting and Motivation. We developed culturally appropriate text message boosters in Swahili for injury patients in Tanzania coupled with a BNI for alcohol use reduction. We found it important to evaluate content validation for interventions and measurement tools because the intended text message can often be lost in translation. The process of culturalization is critical in order to create interventions that are applicable and beneficial to the target population.
Trial registration: Clinical Trials Registration Number: NCT02828267, NCT04535011
Effect of animal manure on population dynamics of indigenous soil Bacillus spp.
Authors: Baryakabona Silver , Ssekandi Joseph , Turyagyenda Laban Frank 
Published: July 2024

Bacillus spp. are soil inhabitants, many of which play vital roles as biofertilizers and biopesticides in plant production. These bacteria derive their nourishment from soil organic carbon and nitrogen provided by organic matter. Reports indicate that animal manure increases the population and diversity of Bacillus spp. in the soil. However, there is limited information on which of the three commonly used animal manure (cattle, goat, and chicken) is more effective in multiplying Bacillus cells. This study evaluated the effectiveness of cattle, goat, and chicken manures, standard nutrient broth, and soil, as growth media, on the multiplication of 22 indigenous soil Bacillus spp. strains previously isolated from the cabbage rhizosphere. A Completely Randomized Design with five treatments replicated three times was used and the conditions were kept at room temperature. Both standard nutrient broth and sterilized soil media were used as controls. Colony-forming unit counts of Bacillus spp. were subjected to Log (x+1) transformation. One-way analysis of variance was used to generate mean differences and means separated using Duncan’s LSD test (p = 0.05). Linear curves were drawn to compare the growth trends for each Bacillus strain. The findings indicate that the growth of Bacillus spp. strains in animal manure were significantly higher than in the soil media. Growth in the soil media was significantly lower than in standard nutrient broth media growth. Results further show that the growth of the Bacillus spp. in all the media followed the normal growth curve of bacterial cells. Results from this study, therefore, suggest that amendment of soil with cattle, goat, and chicken manures enhances the growth and multiplication of soil Bacillus spp. and this has a positive effect on soil fertility. These manures can also be used in the commercial production of the bacillus bacteria as a biofertilizer and biopesticide. Biofertilizers are cheap, have long-term effects on soil fertility, and are health-friendly to the environment and the user.
Influence of annealing temperature on the structure, morphology, optical property and antibacterial response of phytochemicals-assisted synthesized zinc oxide nanoparticles
Authors: Sampath Buvana , Charles Julie 
Published: July 2024

Abstract
Antibiotic overuse has caused a variety of bacterial pathogens to develop new resistance mechanisms. As a result, discovering an appropriate replacement for the standard antibiotics has become an immediate concern. The present work demonstrates a facile, eco-friendly and economical method for the synthesis of hexagonal wurtzite zinc oxide nanoparticles (ω-ZONPs) using the ethanolic extract of triphala. Gas chromatography–mass spectrometry analysis of the triphala extract proved the presence of certain secondary metabolites, which aids in the formation of ω-ZONPs. The influence of annealing temperature on the antibacterial action of as-synthesized ω-ZONPs was studied for three different annealing temperatures. X-ray diffraction, dynamic light scattering, field emission electron microscopy and energy dispersive X-ray spectroscopy analyses were used to examine the impact of annealing temperature on the structure, particle size and morphology of ω-ZONPs. Fourier transform infrared spectra revealed the change in intensity of the characteristic peaks in ω-ZONPs with different annealing temperatures. From UV–Visible diffuse reflectance spectroscopy, variation in the band gap of ω-ZONPs with increasing annealing temperature was detected. Kirby Bauer disc diffusion was adopted to examine the antibacterial potential of ω-ZONPs against bacterial strains such as Staphylococcus aureus, Enterococcus faecium, Bacillus subtilis, Escherichia coli and Pseudomonas aeruginosa. The ω-ZONPs annealed at 200 °C inhibited the growth of three bacterial pathogens, E. coli, B. subtilis and P. aeruginosa and exhibited effective antibacterial activity in comparison with ω-ZONPs annealed at relatively high temperatures. Thus, the antibacterial potential of ω-ZONPs could be further explored as disease controlling agents and such prototypes could be made available for commercial mass production.
A new challenge for cadastral surveying in Taiwan: feasibility analysis using combination on CORS data and online PPP service
Authors: Ho Ming-Kuang , Yeh Ta-Kang , Liao Tung-Shan , Chung Yi-Da 
Published: July 2024

Abstract
Relative GNSS positioning, a longstanding measurement standard, often incurs high manpower and equipment costs. Online Precise Point Positioning (PPP) presents a cost-effective alternative by minimizing these expenses. However, transitioning from the ITRF2014 to the TWD97[2010] coordinate system presents unique challenges. This study evaluates the efficacy of five PPP services – AUSPOS, OPUS, CSRS-PPP, magicGNSS, and RTX-PP – using 2018 Continuously Operating Reference Stations (CORS) data. Following a seven-parameter transformation, we systematically compared these services to identify the optimal solution for Taiwan’s geodetic survey needs. Our analysis reveals that RTX-PP offers superior performance, achieving 1 cm accuracy over 24 h and 4 cm accuracy over 1 h. Most stations met these accuracy standards, even during short observation intervals from September 9, 2018. Nonetheless, there is a 24.1 % likelihood of exceeding the 6 cm accuracy threshold due to variations in GNSS data quality. To address this, we employed G-Nut software to analyze station data quality across regions, recommending station selection based on data ratio and cycle slips to improve PPP solution accuracy effectively.
Comparative performance of wavelength division multiplexing system using different optical communication channels
Authors: Dewra Sanjeev , Sharma Kartik 
Published: July 2024

Abstract
This paper investigates the comparative analysis of optical system using different communication channels such as Optical Wireless Communication (OWC), Single Mode Fiber (SMF) and Free Space Optics (FSO). The comparative assessment involves analyzing these channels based on metrics such as Quality Factor (QF) and Bit Error Rate (BER) across various communication distances. It has been analyzed that Optical Wireless Communication channel provides wide coverage distance than Free Space Optics and Single Mode Fiber. It is found that despite the presence of fiber nonlinearities and attenuation, the signal can be effectively transmitted via Free-Space Optical (FSO) communication up to a distance of 8 km, maintaining an acceptable Bit Error Rate (BER) and Q-factor. Additionally, we use OWC and SMF channels to evaluate the Quality factor and bit error rate up to 30 km and 17 km, respectively.
Integrating reliability analysis into MBSE for FPGA-based safety critical I&C system design in nuclear power plants
Authors: Wang Fanyu , Zhao Yang , He Jinyu , Chen Qi , Lei Minjie , Zhao Yang , Wang Heng 
Published: July 2024

Abstract
With the widespread application of Field Programmable Gate Array (FPGA) technology in the instrumentation and control (I&C) systems of nuclear power plants (NPPs), its design reliability has become the key to ensuring the subsequent safe operation of NPPs. However, the traditional document-based design method is no longer sufficient to meet the current design needs of complex systems, and there is a lack of research related to the reliability and security analysis of FPGA-based systems. Therefore, the overall goal of this study is to integrate reliability analysis into the model-based systems engineering (MBSE)-based design of FPGA-based I&C systems. Based on the typical application characteristics of the FPGA, a digital design framework for FPGA-based systems is proposed to realize a traceable design process from requirements to implementation. Subsequently, a model-based forward comprehensive reliability analysis method is proposed, which uses a SysML-based mapping mechanism to integrate Failure Mode and Effects Analysis (FMEA) and Fault Tree Analysis (FTA) methods into the design process, so as to comprehensively identify and analyze failure modes from systems to components and optimize and improve system design. Finally, the proposed method is applied to the analog output design of FPGA-based systems. The proposed method can provide guidance for improving the reliability of FPGA-based DI&C systems and provide theoretical basis for the further engineering application.
Caveolin-3 regulates slow oxidative myofiber formation in female mice
Authors: Zhang Xinyuan , Shi Xiaoyang , Li Jinjie , Kou Guangning 
Published: July 2024

Abstract

Objectives
Caveolin-3 (Cav-3) plays a pivotal role in maintaining skeletal muscle mass and function. Mutations or deletions of Cav-3 can result in the development of various forms of myopathy, which affect the integrity and repair capacity of muscle fiber membranes. However, the potential effect of Cav-3 on myofiber type composition remains unclear.

Methods
To investigate the effect of Cav-3 on muscle strength and running capacity, we examined the grip force test and the low/high-speed running test. Oxidative and glycolytic myofiber-related genes, proteins, and skeletal muscle fiber composition were measured to determine the role of the Cav-3 in oxidative myofiber formation.

Results
We report the impact of Cav-3 on enhancing muscle endurance performance in female mice, and the discovery of a new physiological function to increase the proportion of slow-twitch oxidative muscle fiber by analyzing the gastrocnemius and soleus. Skeletal muscle-specific ablation of Cav-3 in female mice increased oxidative myofiber-related gene expression and type I oxidative myofiber composition, with resultant improvements in endurance performance. In male mice, the absence of Cav-3 in skeletal muscle reduced in the expression of glycolytic fiber-related genes and proteins.

Conclusions
This study identified Cav-3 as a regulator of slow-twitch oxidative muscle fiber formation acting on female mice, which may provide a potential target for improving muscle oxidative function.
Hydrothermally synthesized transition metal doped ZnO nanorods for dye degradation and antibacterial activity
Authors: Sarbudeen Sulthana Sabura , Sinnappan Jesurani , Arulanandam Jegatha Christy 
Published: July 2024

Abstract
In this study, Ni-doped ZnO (NZ) and Ni–Mn dual-doped ZnO (NMZ) NPs were synthesized by hydrothermal method. Various analytical techniques, such as XRD, UV–vis, FTIR, PL, SEM, EDAX, and HR-TEM, were employed to investigate the effect of doping transition metal ions in the ZnO lattice. The powder X-ray diffraction (XRD) patterns confirmed a hexagonal structure with average crystallite sizes of 30.66 nm and 27.09 nm for NZ and NMZ nanoparticles, respectively. Tauc’s plot showed that the energy bandgap was redshifted to 2.9 from 2.8 eV by doping transition metal ions in ZnO. The photoluminescence spectrum displayed various peaks, indicating the emission behaviour of the nanomaterials. The photocatalytic performance of the catalysts was tested under visible light sources against Crystal Violet (CV) dye. The degradation efficiency, for NMZ achieved a maximum degradation efficiency of 91.1 %. Antibacterial activity was evaluated against gram-positive (B. subtilis and S. aureus) and gram-negative (E. coli and P. aeruginosa) bacteria. The NMZ exhibited higher photocatalytic and antibacterial activity than NZ.
A beetroot-based beverage produced by adding Lacticaseibacillus paracasei: an optimization study
Authors: Durukan Gamze , Sari Ferda , Karaoglan Hatice Aybuke 
Published: July 2024

The present study aimed to optimize the production conditions of a beetroot-based beverage using Lacticaseibacillus paracasei. The experiment was meticulously planned and executed using the Box–Behnken design in Response Surface Methodology (RSM), which provided 17 different combinations. The independent variables in this study included the heat treatment temperature (60–80℃, the heat treatment time (10–30 s), and the incubation temperature (24–36℃). The variables evaluated in this study included pH, total acidity (TA), total phenolic content (TPC), total betalain content (TBC), yellow color (OD420), general acceptance (GA), and total count of lactic acid bacteria (LAB). The samples were determined to have TPC ranging from 67.90 to 437.15 mg GA/L and TBC ranging from 147.52 to 747.21 mg/L. The samples subjected to incubation temperatures of 30℃ and 36℃ were typically favored by the panelists and exhibited better results in terms of chemical analysis compared to the samples incubated at 24℃. According to RSM, heat treatment at 60℃ for 22 min and an incubation temperature of 31℃ were the optimum production conditions. Under these optimal conditions, RBJ has maximum TBC, total LAB, and GA scores, indicating nutrient-dense and appealing to consumers.