bluuebunny/crossref_metadata_2025_split huggingface dataset:
Homogentisate 1,2-dioxygenase (HGD) gene variants in young Egyptian patients with alkaptonuria
Authors: Abdelkhalek Zeinab S. , Mahmoud Iman G. , Omair Heba , Abdulhay Mohamed , Elmonem Mohamed A. 
Published: September 2023

AbstractAlkaptonuria (AKU) is a rare autosomal recessive metabolic disorder caused by pathogenic variants in the homogentisate 1,2-dioxygenase (HGD) gene. This leads to a deficient HGD enzyme with the consequent accumulation of homogentisic acid (HGA) in different tissues causing complications in various organs, particularly in joints, heart valves and kidneys. The genetic basis of AKU in Egypt is completely unknown. We evaluated the clinical and genetic spectrum of six pediatric and adolescents AKU patients from four unrelated Egyptian families. All probands had a high level of HGA in urine by qualitative GC/MS before genetic confirmation by Sanger sequencing. Recruited AKU patients were four females and two males (median age 13 years). We identified four different pathogenic missense variants within HGD gene. Detected variants included a novel variant c.1079G > T;p.(Gly360Val) and three recurrent variants; c.1078G > C;p.(Gly360Arg), c.808G > A;p.(Gly270Arg) and c.473C > T;p.(Pro158Leu). All identified variants were properly segregating in the four families consistent with autosomal recessive inheritance. In this study, we reported the phenotypic and genotypic spectrum of alkaptonuria for the first time in Egypt. We further enriched the HGD-variant database with another novel pathogenic variant. The recent availability of nitisinone may promote the need for genetic confirmation at younger ages to start therapy earlier and prevent serious complications.
Analysis of flow-induced transcriptional response and cell alignment of different sources of endothelial cells used in vascular tissue engineering
Authors: Rojas-González Diana M. , Babendreyer Aaron , Ludwig Andreas , Mela Petra 
Published: September 2023

AbstractEndothelialization of tissue-engineered vascular grafts has proven crucial for implant functionality and thus clinical outcome, however, the choice of endothelial cells (ECs) is often driven by availability rather than by the type of vessel to be replaced. In this work we studied the response to flow of different human ECs with the aim of examining whether their response in vitro is dictated by their original in vivo conditions. Arterial, venous, and microvascular ECs were cultured under shear stress (SS) of 0, 0.3, 3, 1, 10, and 30 dyne/cm2 for 24 h. Regulation of flow-induced marker KLF2 was similar across the different ECs. Upregulation of anti-thrombotic markers, TM and TPA, was mainly seen at higher SS. Cell elongation and alignment was observed for the different ECs at 10 and 30 dyne/cm2 while at lower SS cells maintained a random orientation. Downregulation of pro-inflammatory factors SELE, IL8, and VCAM1 and up-regulation of anti-oxidant markers NQO1 and HO1 was present even at SS for which cell alignment was not observed. Our results evidenced similarities in the response to flow among the different ECs, suggesting that the maintenance of the resting state in vitro is not dictated by the SS typical of the tissue of origin and that absence of flow-induced cell orientation does not necessarily correlate with a pro-inflammatory state of the ECs. These results support the use of ECs from easily accessible sources for in vitro vascular tissue engineering independently from the target vessel.
Analysis of the dynamics of a vector-borne infection with the effect of imperfect vaccination from a fractional perspective
Authors: Tang Tao-Qian , Jan Rashid , Khurshaid Adil , Shah Zahir , Vrinceanu Narcisa , Racheriu Mihaela 
Published: September 2023

AbstractThe burden of vector-borne infections is significant, particularly in low- and middle-income countries where vector populations are high and healthcare infrastructure may be inadequate. Further, studies are required to investigate the key factors of vector-borne infections to provide effective control measure. This study focuses on formulating a mathematical framework to characterize the spread of chikungunya infection in the presence of vaccines and treatments. The research is primarily dedicated to descriptive study and comprehension of dynamic behaviour of chikungunya dynamics. We use Banach’s and Schaefer’s fixed point theorems to investigate the existence and uniqueness of the suggested chikungunya framework resolution. Additionally, we confirm the Ulam–Hyers stability of the chikungunya system. To assess the impact of various parameters on the dynamics of chikungunya, we examine solution pathways using the Laplace-Adomian method of disintegration. Specifically, to visualise the impacts of fractional order, vaccination, bite rate and treatment computer algorithms are employed on the infection level of chikungunya. Our research identified the framework’s essential input settings for managing chikungunya infection. Notably, the intensity of chikungunya infection can be reduced by lowering mosquito bite rates in the affected area. On the other hand, vaccination, memory index or fractional order, and treatment could be used as efficient controlling variables.
Route of pesticide spread on the body surface of Blattella germanica (Linnaeus): a NanoSuit–energy dispersive X-ray spectroscopy analysis
Authors: Takaku Yasuharu , Shiraki Katsumi , Suzuki Chiaki , Takehara Sayuri , Nishii Hiroyuki , Sasaki Tomonori , Hariyama Takahiko 
Published: August 2023

AbstractNumerous studies have focussed on the mechanisms of entry of pesticides into insect body parts such as oral intake, penetration through the integument of the body wall, and inhalation through spiracles. However, little is known about how insecticides spread to the points of entry or the paths on the body surface that are used to reach the target sites. In this study, elemental signals of pesticide-mimicking test solutions were tracked and their routes of spreading in experimental insects (Blattella germanica L.) were investigated using NanoSuit (a method of surface modification) and energy dispersive X-ray spectroscopy, combined with high-resolution scanning electron microscopy. When the test solution initially adhered to the dorsal and/or ventral body surface, it tended to spread horizontally to reach lateral plates. Whereas, when the solution directly adhered to the anterior side of the lateral plates, it spread to posterior segments. In this case, however, spreading in the opposite direction (i.e., the solution directly adhered to the posterior side of the lateral plates) was interrupted at a boundary erected by different groups of fine structures; each protrusion was large, and the arrangement was rather dense in the posterior segments. Morphological features of these fine structures and chemical characteristics of the hydrophobic surface substances potentially regulate the strength of the capillary force, which determines pesticide spreading.
Linking metabolic syndrome with low bone mass through insights from BMI and health behaviors
Authors: Lee Chun-Ying , Chuang Yun-Shiuan , Lee Chien-Hung , Wu Ming-Tsang 
Published: September 2023

AbstractThe objective of this study is to investigate the relationship between metabolic syndrome (MetS), and bone density in a 30- to 50-year-old Taiwanese population, and to explore the combined effects of BMI and health behaviors on this association. A total of 52,912 individuals aged 30–50 years from the Taiwan Biobank were included in this cross-sectional study. Bone density status was assessed using quantitative ultrasound (QUS). The joint effect was assessed by including an interaction term in the multi-logistic regression models to test the association between MetS, BMI, and bone density while controlling for potential confounders. MetS was associated with reduced bone density, with the risk of severe low bone density (SLBD) higher among BMI < 24 kg/m2 individuals with MetS (adjusted odds ratio [aOR] 1.5, 95% confidence interval [CI] 1.09–2.16), while the risk was not significant among BMI ≥ 24 kg/m2 individuals with MetS. Smoking, alcohol consumption, and lack of regular exercise among individuals with a BMI < 24 kg/m2 and MetS were associated with higher risk of severe low bone density (SLBD), the aORs (95%CI) were 2.9 (1.59–5.20), 2.1 (1.06–4.22), and 1.8 (1.24–2.54) respectively. Our study suggests that metabolic syndrome could increase the risk of severe low bone density, but this risk can be minimized through higher BMI, non-smoking, no alcohol consumption, and regular exercise. Conversely, smoking, alcohol consumption or lack of regular exercise may exacerbate the risk of severe low bone density. These findings highlight the importance of a multifactorial approach in managing bone healthcare.
Associations between doses of fall-risk-increasing drugs (FRIDs) and falls of hospitalized patients
Authors: Yang Yu-Kai , Kor Chew-Teng , Sun Yi-Wei , Wang Hsin-Yu , Yang Yuan-Ting , Liu Sen-Yung 
Published: September 2023

AbstractFalls are a serious public health problem in the aging population because of the associated clinical and socioeconomic impact. Although previous studies have investigated fall-risk-increasing drugs (FRIDs), few studies have focused on dosage among adult inpatients. This study aimed to evaluate associations between fall risk and dosage of different FRIDs classes in hospital inpatients. Inpatients who experienced falls at medical or surgical wards of Changhua Christian Hospital from January 2017 to December 2021 were identified and matched by age, sex, and hospital ward to randomly selected controls (four per case). Anonymous patient data were extracted from the hospital medical data repository, including demographic characteristics, comorbidities, fall-risk scores, and drug prescriptions. Medication dosages were computed using the anatomical therapeutic chemical classification and the defined daily dose system of the World Health Organization. A total of 852 cases and 3408 controls were identified as eligible. Reducing the use of CNS-active medications, administering lower doses of sedative-hypnotics, prescribing sufficient dopaminergic anti-Parkinson agents, and using NSAIDs instead of opioids are imperative in preventing falls among hospitalized patients according to the findings in the study.
Ag/ZnO core–shell NPs boost photosynthesis and growth rate in wheat seedlings under simulated full sun spectrum
Authors: Nayeri Shahnoush , Dolatyari Mahboubeh , Mouladoost Neda , Nayeri Saeed , Zarghami Armin , Mirtagioglu Hamit , Rostami Ali 
Published: September 2023

AbstractBreeding programs rely on light wavelength, intensity, and photoperiod for rapid success. In this study, we investigated the ability of Ag/ZnO nanoparticles (NPs) to improve the photosynthesis and growth of wheat under simulated full solar spectrum conditions. The world population is increasing rapidly, it is necessary to increase the number of crops in order to ensure the world’s food security. Conventional breeding is time-consuming and expensive, so new techniques such as rapid breeding are needed. Rapid breeding shows promise in increasing crop yields by controlling photoperiod and environmental factors in growth regulators. However, achieving optimum growth and photosynthesis rates is still a challenge. Here, we used various methods to evaluate the effects of Ag/ZnO NPs on rice seeds. Using bioinformatics simulations, we evaluated the light-harvesting efficiency of chlorophyll a in the presence of Ag/ZnO NPs. Chemically synthesized Ag/ZnO nanoparticles were applied to rice grains at different concentrations (0–50 mg/L) and subjected to a 12-h preparation time. Evaluation of seed germination rate and growth response in different light conditions using a Light Emitting Diode (LED) growth chamber that simulates a rapid growth system. The analysis showed that the surface plasmon resonance of Ag/ZnO NPs increased 38-fold, resulting in a 160-fold increase in the light absorption capacity of chlorophyll. These estimates are supported by experimental results showing an 18% increase in the yield of rice seeds treated with 15 mg/L Ag/ZnO NPs. More importantly, the treated crops showed a 2.5-fold increase in growth and a 1.4-fold increase in chlorophyll content under the simulated full sun spectrum (4500 lx) and a 16-h light/8-h dark photoperiod. More importantly, these effects are achieved without oxidative or lipid peroxidative damage. Our findings offer a good idea to increase crop growth by improving photosynthesis using Ag/ZnO nanoparticle mixture. To develop this approach, future research should go towards optimizing nanoparticles, investigating the long-term effects, and exploring the applicability of this process in many products. The inclusion of Ag/ZnO NPs in rapid breeding programs has the potential to transform crops by reducing production and increasing agricultural productivity.
Prevalence, molecular characterization of integrons and its associated gene cassettes in Klebsiella pneumoniae and K. oxytoca recovered from diverse environmental matrices
Authors: Fadare Folake Temitope , Fadare Taiwo Olawole , Okoh Anthony Ifeanyi 
Published: September 2023

AbstractThe high prevalence of infections arising from Klebsiella species is related to their ability to acquire and disseminate exogenous genes associated with mobile genetic elements such as integrons. We assessed the prevalence, diversity, and associated gene cassettes (GCs) of integrons in Klebsiella species. The isolates recovered from wastewater and hospital effluents, rivers, and animal droppings were identified using the conventional Polymerase Chain Reaction (PCR) with primers targeting the gryA, pehX, and 16S–23S genes. The antimicrobial resistance profile and the Extended-Spectrum and Metallo β-lactamases production were carried out using standard microbiological techniques. PCR, DNA sequencing analyses, and Restriction Fragment Length Polymorphism were used to characterize the integrons and their associated GCs. Furthermore, the genotypic relationships between the different isolated K. pneumoniae were determined using Enterobacterial Repetitive Intergenic Consensus (ERIC)-PCR. About 98% (51/52) of the confirmed isolates harboured an integrase gene, with 80% intI1, while the remaining 20% concurrently harboured intI1 and intI2, with no intI3 observed. About 78% (40/51) of the bacterial strains were positive for a promoter, the P2R2, investigated, while 80% (41/51) harboured at least one of the qacEΔ1 and sul1. Three different GCs arrangements identified were aac(6′)-Ib, aadA1-dfrA1, and dfrA1-sat2. At a similarity index of 60%, the ERIC-PCR fingerprints generated were categorized into nine clusters. Our study is the first to reveal the features of integrons in Klebsiella spp. recovered from environmental sources in the Eastern Cape Province, South Africa. We conclude that the organisms' sources are repositories of integrons harbouring various gene cassettes, which can be readily mobilized to other microorganisms in similar or varied niches.
CD1b glycoprotein, a crucial marker of thymocyte development during T cell maturation in cynomolgus monkeys
Authors: Choi Sung Min , Park Hi Jung , Choi Eun A , Jung Kyeong Cheon , Lee Jae Il 
Published: September 2023

AbstractPhenotypic markers that denote different developmental stages of thymocytes are important for understanding T cell development in the thymus. Here, we show that CD1b is a critical discriminator of thymocyte maturation stage in cynomolgus monkeys. CD1b was expressed by immature thymocytes prior to β-selection, and its expression decreased as cells became fully mature in the thymus. MHC-I expression was lowest at the CD3loCD1b+ immature double-positive (DP) stage, while the ratio of CD1d:MHC-I expression was significantly higher at this stage than at other developmental stages. PLZF was expressed by < 0.2% of thymocytes; most PLZF+ thymocytes were CD3-/loCD1b+ immature DP thymocytes with the potential to produce IL-4. EOMES+ thymocytes, which accounted for > 2% of total thymocytes, were mostly CD3+CD1b- mature thymocytes and predominantly of the CD8 single-positive (SP) lineage. An unconventional CD8+ T cell subset expressing the NKG2AC+CXCR3+ innate-like T cell marker was identified within the EOMES+ CD8 SP lineage; these cells exhibited a memory phenotype. Taken together, these findings show that CD1b is a valuable discriminatory marker of thymocyte development. The data presented herein can be used to characterize the features of PLZF- and EOMES-associated unconventional T cells in the thymus.
Deep learning analysis of blood flow sounds to detect arteriovenous fistula stenosis
Authors: Zhou George , Chen Yunchan , Chien Candace , Revatta Leslie , Ferdous Jannatul , Chen Michelle , Deb Shourov , De Leon Cruz Sol , Wang Alan , Lee Benjamin , Sabuncu Mert R. , Browne William , Wun Herrick , Mosadegh Bobak 
Published: September 2023

AbstractFor hemodialysis patients, arteriovenous fistula (AVF) patency determines whether adequate hemofiltration can be achieved, and directly influences clinical outcomes. Here, we report the development and performance of a deep learning model for automated AVF stenosis screening based on the sound of AVF blood flow using supervised learning with data validated by ultrasound. We demonstrate the importance of contextualizing the sound with location metadata as the characteristics of the blood flow sound varies significantly along the AVF. We found the best model to be a vision transformer trained on spectrogram images. Our model can screen for stenosis at a performance level comparable to that of a nephrologist performing a physical exam, but with the advantage of being automated and scalable. In a high-volume, resource-limited clinical setting, automated AVF stenosis screening can help ensure patient safety via early detection of at-risk vascular access, streamline the dialysis workflow, and serve as a patient-facing tool to allow for at-home, self-screening.
Two-sample mendelian randomization reveals a causal association between membranous nephropathy and lung cancer
Authors: Yang Kezhen , Ding Xiaofeng , Liu Jipeng , Liu Saisai , Liu Qingguo , Li Jianhua , Zhang Pingna 
Published: September 2023

AbstractA risk association between membranous nephropathy (MN) and lung cancer is reported, but traditional observational studies cannot provide strong evidence of its causality. This study aimed to assess genome-wide association studies data for a causal relationship between MN and lung cancer using a two-sample Mendelian randomization (MR) approach. Inverse-variance weighted, and MR Egger regression techniques were used to determine the association of genetic variants from cohorts of MN and lung cancer patients. Independent genetic variants with genome-wide significance (P < 5×10–8) were used to determine the direction of chance. Sensitivity analyses confirmed the accuracy of the results. The results suggest that MN is an exposure factor for lung cancer, validated using a second cohort of lung cancer patients (P < 0.001). There is insufficient evidence to suggest a causal relationship between lung cancer and MN; however, cigarette smoking may be a confounding factor for lung cancer due to MN. The findings provide causal evidence for the effect of MN on lung cancer risk and may be useful for patient management, especially in older patients with MN who should be systematically screened regularly.
The non-attached biofilm aggregate
Authors: Kragh Kasper N. , Tolker-Nielsen Tim , Lichtenberg Mads 
Published: September 2023

AbstractBiofilms have conventionally been perceived as dense bacterial masses on surfaces, following the five-step model of development. Initial biofilm research focused on surface-attached formations, but detached aggregates have received increasing attention in the past decade due to their pivotal role in chronic infections. Understanding their nature sparked fervent discussions in biofilm conferences and scientific literature. This review consolidates current insights on non-attached aggregates, offering examples of their occurrence in nature and diseases. We discuss their formation and dispersion mechanisms, resilience to antibiotics and immune-responses, drawing parallels to surface-attached biofilms. Moreover, we outline available in vitro models for studying non-attached aggregates.
Cooling the optical-spin driven limit cycle oscillations of a levitated gyroscope
Authors: Arita Yoshihiko , Simpson Stephen H. , Bruce Graham D. , Wright Ewan M. , Zemánek Pavel , Dholakia Kishan 
Published: September 2023

AbstractBirefringent microspheres, trapped in vacuum and set into rotation by circularly polarised light, demonstrate remarkably stable translational motion. This is in marked contrast to isotropic particles in similar conditions. Here we demonstrate that this stability is obtained because the fast rotation of these birefringent spheres reduces the effect of azimuthal spin forces created by the inhomogeneous optical spin of circularly polarised light. At reduced pressures, the unique profile of these rotationally averaged, effective azimuthal forces results in the formation of nano-scale limit cycles. We demonstrate feedback cooling of these non-equilibrium oscillators, resulting in effective temperatures on the order of a milliKelvin. The principles we elaborate here can inform the design of high-stability rotors carrying enhanced centripetal loads or result in more efficient cooling schemes for autonomous limit cycle oscillations. Ultimately, this latter development could provide experimental access to non-equilibrium quantum effects within the mesoscopic regime.
Narrative Retell Assessment Using “Frog” Stories: A Practice-Based Research Speech-Language Pathology Partnership Exploring Story Equivalency
Authors: Coughler Caitlin , Bardell Taylor , Schouten Mary Ann , Smith Kristen , Archibald Lisa M. D. 
Published: September 2023

Purpose:
Narrative abilities are an important part of everyday conversation, playing a key role in academic settings, at home, and in social interactions. As narrative assessments are an effective method for identifying children falling below age expectations, it has been recommended they be included as a routine part of clinical language assessments. It is important that assessments meet the needs of clinicians and their practice. The current study is a practice-based research partnership, where research questions arose from a partnership with school-based speech-language pathologists (SLPs). Working together, SLPs and researchers evaluated a bespoke narrative retell assessment tool. The current study examined recall of events in two wordless picture books, in order to evaluate story equivalency and determine if the tool was appropriate for progress monitoring. These findings were then used to develop local norms.

Method:

Two hundred sixty-three students were recruited across 12 schools in kindergarten, Grade 1, and Grade 2. Students completed the narrative retell task, retelling either
One Frog Too Many
or
Frog Goes to Dinner
, followed by answering 10 comprehension questions related to story events.

Results:
A significant effect of story was found for both main and supporting events recalled, but not for total events recalled. Total events recalled were found to be predicted by grade only. An examination of percent events recalled revealed four main and four supporting events in each story that were potentially misclassified. Reanalysis following reallocation revealed no significant effect of story for main or supporting events recalled. Normative values for each grade were created using percentile ranks of total events recalled.

Conclusion:
Through a practice-based research partnership, researchers and clinicians worked collaboratively to evaluate a tool, adapt its use, and improve evidence-based practice in a manner that was appropriate and met the needs for the clinical context.