bluuebunny/crossref_metadata_2025_split huggingface dataset:
Pathogenesis of acephalic spermatozoa syndrome caused by PMFBP1 mutation
Authors: Xia Huaqiang , zhang Juan , Mao Wuyuan , Yi Kangle , Wang Teng , Liao Lingyan 
Published: August 2024

Abstract

Background
Acephalic spermatozoa syndrome is a rare but severe type of teratozoospermia. The familial trait of Acephalic spermatozoa syndrome suggests that genetic factors play an important role. However, the known mutations only account for some Acephalic spermatozoa syndrome patients, and more studies are required to elucidate its pathogenesis. To elucidate the pathogenesis of acephalic spermatozoa syndrome caused by PMFBP1 mutation. We utilized Sanger sequencing to detect mutations in the genes SUN5 and PMFBP1 in a patient diagnosed with acephalic spermatozoa syndrome. Western blot analysis and immunofluorescence were employed to determine the presence and distribution of PMFBP1 in sperm. Additionally, a mutant form of PMFBP1 was generated, and its mRNA expression level was subsequently confirmed through in vitro studies.
Results
We identified a homozygous splice site mutation (NM_031293.2, c.2089-1G > T) in PMFBP1. Western blotting and immunofluorescence analyses revealed that this splice site mutation resulted in the absence of PMFBP1 protein expression in the patient's sperm cells. We generated an in vitro model carrying the splice site mutation in PMFBP1 and confirmed through RT‒PCR and Sanger sequencing that it led to a deletion of 4 base pairs from exon 15.
Conclusion
A homozygous splice site mutation results in the deletion of 4 bp from exon 15 of PMFBP1, thereby affecting the expression of the PMFBP1 protein. The absence of PMFBP1 protein expression can lead to Acephalic spermatozoa syndrome. This finding elucidates the underlying cause of Acephalic spermatozoa syndrome associated with this specific mutation (NM_031293.2, c.2089-1G > T) in PMFBP1.
Eco-friendly Cooling Systems: Development and Validation of a Holistic Environmental Model for Droplet Condensation in Moist Air
Authors: Kothari Prafull , Pachouri Vikrant , Yadav Indrajit N 
Published: August 2024

Abstract

This research provides comprehensive information on an environment-friendly, novel cooling system with a focus on the associated experimental and simulated performance parameters. The cooling performance of the cooling system was conducted through several tests that involved the inlet and outlet parameters commonly including temperature, velocity, relative humidity, and pressure drop. From the experimental results, it was found that the outlet velocities of Test 1, 2 & 3 are 10. The above table depicts the experimental results showing the calculated values of Froude number for Test 1, Test 2 & Test 3 as 0.23,0.34 & 0.27 respectively. 3 m/s, 7. 4 m/s, and 7. Audi A8 limousines Average velocities in the experiment were 1.5 m/s for passengers getting out of the vehicle and 2 m/s for loading and unloading baggage, while the simulated velocities were 2.5 m/s and 1 m/s higher, respectively. 03 m/s, 0. 51 m/s, and 1. 85 m/s. The same measurements were taken for the relative humidity at the outlet with stable figures: 53, 76, and 94%; however, the simulation errors here are few and reach 2. 65%, 5. 90%, and 2. 60%. The pressure drops across the system also changed, indicated by the sampled drops of 72Pa with the sampled values being 33Pa and 33Pa respectively together with simulated values which caused errors of -15. 0 Pa, 1. 0 Pa, and 12. Also, given power usage investigation revealed that industrial dehumidifiers at higher airflow rates consume more power than the extractor and ventilator systems using 0 Pa. This research has demonstrated an opportunity to improve the scientific optimization of the eco Coolmax system via improving realistic simulation models to compare them to experimental results and improve the engineering use-value of eco Coolmax and other sustainable methods.
Effect of low-frequency repetitive transcranial magnetic stimulation combined with motor imagery training on upper Limb Motor Recovery and Primary Motor Cortex Activation in Stroke Patients
Authors: Choi Jong-Bae , Yang Seo-Won , Park Ji-Su 
Published: August 2024

Abstract

We aimed to investigate the effects of low-frequency repetitive transcranial magnetic stimulation (LF-rTMS) combined with motor imagery training (MIT) on upper limb function recovery and primary motor cortex (M1) activation in patients with stroke. Forty-four patients with stroke were randomly assigned into two groups: experimental (both LF-rTMS combined with MIT, N = 22), and control (LF-rTMS, N = 22) groups. The treatment was performed for 20 min a day, 3 d a week, for 8 weeks. To evaluate upper limb function, the Fugl–Meyer assessment for upper extremity (FMA UE), Wolf motor function test, and action research arm test (ARAT) were conducted. To evaluate M1 activation, motor-evoked potential (MEP) amplitude was evaluated before and after conducting the study. The results indicated that both groups showed significant changes across all evaluation items before and after the intervention. In the prepost and change comparisons, the experimental group demonstrated significantly greater changes in the FMA-UE, WMFT, and ARAT than the control group. Moreover, the combined intervention of LF-rTMS and MIT was effective in improving upper limb function and activating M1 in patients with severe stroke. Therefore, we propose this intervention as a novel clinical intervention method for recovering upper limb function in patients with stroke.
Modifying effects of sociodemographic factors on the relationship between living alone and suicidality in older adults
Authors: Lin Ping-I , John James , Azasu Enoch , Grossberg George , Scherrer Jeffery , Messias Erick 
Published: August 2024

Abstract

Purpose
The goal of the current study is to examine how the association between living arrangements and suicidality could be modified by other factors among individuals 50 years of age and older.
Methods
The data from the 2020 and 2022 National Surveys on Drug Use and Health (NSDUH) in the U.S.A. were analyzed to address the research questions. Multiple logistic regression models were used to evaluate the association between living arrangements and suicidality adjusting for gender, age, race, income, depression, and alcohol use. Interaction terms consisting of living arrangements and each of the key sociodemographic factors were added to the logistic regression models to evaluate whether the association between living alone and suicidality varied by any of those sociodemographic factors.
Results
Females living alone had lower odds of suicidality compared to males (adjusted OR = 0.55, p = 0.046), while among Blacks, living alone was associated with higher odds of suicidality (adjusted OR = 2.72, p = 0.035) than Whites. Notably, individuals earning $50,000 - $74,999 annually had lower odds of suicidality when living alone (adjusted OR = 0.26, p = 0.021) compared to those earning less than $20,000 annually.
Conclusions
The association between living alone and suicidality was more pronounced in males compared with females and Blacks versus Whites but attenuated in individuals with a higher annual income. The results provide some clues to the points of targeted suicide prevention.
A review of the commonalities and differences of values of global cropland ecosystem services
Authors: Huang Jikun , Wang Han , Wu Yi , Nie Xin 
Published: August 2024

Abstract

Cropland ecosystems provide the food production for humans, but their ecological and cultural multi-functionality are often overlooked. Existing assessments of cropland ecosystems value (ESV) vary significantly, mainly stem from the double counting due to overlapping categorization of ecosystem functions and the tacit assumption that all ecosystem functions are universally presented everywhere. This study provides the first comprehensive review of global cropland ESVs that are reclassified as intermediate and finial services and excludes the non-universally existence of particular ESVs with small sample, using a meta-analysis of 1,162 observations from 145 existing related studies. The results show that the unit value ranged from 894.66 to 1,241.23$/ha/year. Avoiding double counting reduces ESVs by 72%. The regulating service of cropland is more valuable than food supply. The findings of this study not only help us better understand the value of global cropland ESVs, but also have important implications for ESV studies in the future.
Molecular Insights into Genistein-NSAID Hybrids – Synthesis, Characterisation and DFT Study
Authors: Kossakowski Kacper , Żwawiak Justyna , Cherniienko Alina , Zaprutko Lucjusz , Pawełczyk Anna 
Published: August 2024

Abstract

Genistein (GEN) is one of the pharmaceutically valuable phenolic compounds, which belongs to the isoflavone group of flavonoids and is a natural phytohormone found mainly in soybeans and red clover. It affects estrogen receptors, functioning as a selective estrogen receptor modulator (SERM) with anti-inflammatory and antioxidant activity. The presence of reactive phenolic groups in genistein provides an opportunity to expand its structure by introducing components responsible for anti-inflammatory properties. Such an innovative combination of a compound with anticancer and antioxidant potential with an anti-inflammatory compound (NSAID) may lead to interesting new derivatives with dual mechanisms of biological action. The synthesis and characterisation of genistein-NSAID hybrid compounds (ibuprofen, ketoprofen, naproxen, flurbiprofen) was conducted, together with a comprehensive structural and quantum chemistry DFT (Density Functional Theory) computational analysis allowing the description of 1H-NMR and 13C-NMR spectroscopic properties of the starting compounds and the resulting hybrids. The study resulted in the formation of seven hybrid GEN-NSAID derivatives. In the case of ibuprofen, ketoprofen and flurbiprofen, a mixture of isomeric hybrid GEN-4’-NSAID and GEN-7-NSAID derivatives was obtained, whereas, for naproxen, only GEN-4’-NSAID was formed. The structural characteristics of the resulting compounds were determined using MS, IR, 1H-NMR and 13C-NMR spectroscopic methods. The most accurate DFT computational methods for predicting 1H-NMR and 13C-NMR spectra were also established with statistical parameters to assess their accuracy.
Expanding the Phenotypic Spectrum of BRCA1-Associated HBOC: Gastric Cancer and a Salivary Gland Tumor in a Colombian Family
Authors: Torres William , Vargas Elizabeth , Ballen Diego-Felipe , Parra-Medina Rafael , Cadena Enrique , Riaño-Moreno Julian C 
Published: August 2024

Abstract

Objective
This study aims to broaden the understanding of the BRCA1-associated Hereditary Breast and Ovarian Cancer (HBOC) syndrome by highlighting its link to non-traditional cancer types such as gastric and salivary gland tumors in a Colombian family.
Case Presentation:
We present the case of a 61-year-old woman with mucoepidermoid carcinoma of the salivary gland who underwent significant surgical treatment. The family history revealed a diverse cancer pattern, including gastric, breast, and colorectal cancers across four generations in the paternal lineage. Genetic testing confirmed a BRCA1: p.Gln1111Asnfs*5, diverging from the common breast or ovarian cancer manifestations of HBOC syndrome.
Conclusion
The study underscores the necessity of including gastrointestinal and salivary gland cancers in the spectrum of HBOC syndrome associated with BRCA1 variants. It advocates for extensive genetic counseling and testing for families displaying a broad range of cancer types. This contribution supports the diversification of associated cancer types with BRCA1 and encourages further research into precise therapies and management approaches for affected individuals.
Trajectories of perinatal post-traumatic stress disorder scores in association with child’s behavior at 12 months
Authors: Sacchi Chiara , Vallini Sara , Girardi Paolo 
Published: August 2024

Abstract

Perinatal mental health is fundamental to a healthy society. The aim of this study was to describe the trajectories of women’s posttraumatic stress disorder (PTSD) symptoms during the perinatal period to assess their association with child behavior problems at 12 months. We designed an observational longitudinal study. Women were recruited through social media posting during the Coronavirus Disease 2019 (COVID-19) pandemic Italian national lockdown from April 8 to May 4, 2020, and contacted again at 6 and 12 months after the expected delivery date, collecting PTSD scores each time. Child behaviors were reported at 12 months postpartum. Inclusion criteria were residence in Italy, age over 18 years, and fluency in Italian. A total of 327 mother-child dyads were eligible for inclusion in the study. Clustering analysis suggested five groups of PTSD trajectories: a very low and stable (VL) group, 2 groups with decreasing PTSD symptoms over time (one high and decreasing (H-), one low and decreasing (L-)), and 2 groups with positive PTSD trajectories (one high and increasing (H+), one low and increasing (L+)). The H + and H- clusters had significantly higher risks (+ 58% and + 76% for H + and H-, respectively) for total child behavioral outcomes compared with the VL cluster, and higher risk for internalizing problems. Although many women had PTSD scores below the cut-off, we envision a significant risk for the children of mothers with elevated symptoms in pregnancy. Longitudinal modeling of perinatal PTSD symptoms is warranted for sensitive two-generation risk detection.
Derivation of an allostatic load index in the Chilean GERO study cohort reveals the need for specific clinical thresholds in older populations
Authors: Buller-Peralta Ingrid , Muniz-Terrera Graciela , Lillo Patricia , Riquelme Patricio , Demanet Michele , Saguez Rodrigo , Damm Francisca , Salech Felipe , Gonzalez-Billault Christian , Court Felipe , Thumala Daniela , Slachevsky Andrea 
Published: August 2024

Abstract

Background Only few studies of Allostatic Load (AL) have been conducted in Latin/Hispanic populations, and even fewer performed in South American cohorts. Here, we replicated a recently proposed algorithm to derive an AL index in a Chilean cohort of cognitive healthy adults.Methods Using data from the GERO cohort (n = 166, age 76.92 ± 5.07 years, 80.12% females) we generated an AL risk index through a comprehensive algorithm (ALCS). Due to the age and the large disparity between males and females of the sample, modifications to the original algorithm were introduced. An empirical algorithm (ALES), without including clinical thresholds was also derived for model comparison.Results Neither ALCS nor ALES achieved adequate goodness of fit. After age and sex corrections, both algorithms largely improved, but only ALES showed satisfactory model fit. ALCS largely improved when correcting for available age-specific clinical thresholds, although failed to achieve sufficient goodness of fit. A final inclusion of an additional inflammatory biomarker resulted in further improvement of ALES, but not on ALCS.Conclusions Even when satisfactory model fit was not achieved by the comprehensive scoring, it was largely improved when some clinical values were corrected for ages ≥65. The ALES algorithm, which do not include clinical thresholds, achieved satisfactory fit after correcting for sample disparities between sexes. This suggests the need to consider the suitability of clinical thresholds developed in younger populations and the need to develop specific thresholds for assessing older adults.Trial registration Geroscience Center for Brain Health and Metabolism Research Project Nº 1140423, approved in May 2015 by the Scientific Ethics Committee (SEC) of the Western Metropolitan Health Service (WMHS), Santiago (Chile). Trial Number NCT04265482.
Improving Reuse During the Development Process for Web Systems
Authors: El-Halawany Ahmed M. , Elminir Hamdy K. , El-Bakry Hazem 
Published: August 2024

Abstract

Software reuse has emerged as a crucial practice in the software industry, offering significant benefits in time-to-market and resources management. This is particularly pertinent in web systems development, where the integration of diverse technologies and the varied backgrounds of technical teams pose substantial challenges. The rapid expansion of web systems underscores the urgent need to adopt best practices and methodologies for web system reuse to streamline the development process, reducing effort, cost, and time. The objective of this paper is to identify the key challenges of web system reuse in the context of small and medium-sized software companies in Egypt and Saudi Arabia. Using qualitative research methods, including interviews, focus groups, and participant observations, we conducted an empirical study to examine current reuse practices, identify, and understand the root causes of common challenges. According to the results of the empirical study, we have developed a systematic approach to enhance web system reuse during the development process in the context of small and medium-sized software companies in Egypt and Saudi Arabia. Our proposed approach fills critical gaps in current practices, offering practical guides to improve efficiency, reduce development time, and enhance overall software quality. This research contributes to the broader discourse on software reuse by providing context-specific insights and adaptable solutions that are relevant to similar markets worldwide.
Benzo[a]pyrene induces pyroptotic colon damage and gut dysbacteriosis by activating Aryl Hydrocarbon Receptor
Authors: Jia Yingyu , Meng Yao , Wang Zhulin , Li Hao , Li Jianke , Yuan Li 
Published: August 2024

Abstract

Benzo[a]pyrene (BaP) is a kind of carcinogenic, teratogenic, and immunotoxic injurant in high-temperature processed foods. Aryl hydrocarbon receptor (AHR) is widely expressed in various cell types throughout the body and initiates cell death through beginning with ligand binding. AHR plays a crucial role in BaP metabolism. In this study, AHR antagonist CH223191 was used to investigate the toxic effects of BaP on colon tissues in mice by activating AHR. The study revealed that BaP led to an increase in the mRNA expression of inflammatory cytokines (TNF- α, IL-1 β, IL-6, and IL-10) and pyroptosis markers (NF-κB, NLRP3, Caspase-1, and GSDMD) in mouse colon tissues by activating AHR. Similarly, BaP caused a decrease in the levels of ZO-1, MUC2, and Occludi. Furthermore, CH223191 showed promise in mitigating the pyroptotic damage to the colon induced by BaP. Notably, BaP altered the gut microbiota by activating AHR, resulting in a reduction in the abundance of several beneficial bacteria genera, such as Lactobacillus, Bacteroides, Alistipes, and Rikenella, following BaP exposure. However, CH223191 was able to effectively reverse this adverse change. In summary, BaP damaged the intestinal barrier, caused pyroptotic colon damage in mice, and altered the gut microbiota by binding to and activating AHR.
Anti-disturbance Control of Tethered Towed Vehicle with Unknown Time-varying Aerodynamic Parameters and Complex Disturbance
Authors: Bai Jinxin , Meng Zhongjie 
Published: August 2024

Abstract

Due to wind disturbances and various uncertainties, maintaining the stability of a tethered towed flight system is extremely challenging.
This study proposes an anti-disturbance cooperative control scheme for a towed vehicle equipped with a flexible canopy.
The proposed scheme effectively mitigates the impact of time-varying external disturbances, model uncertainties, and state and output constraints.
Unlike existing studies, this paper addresses the unknown time-varying aerodynamic parameters of a tethered towed vehicle for the first time.
Additionally, by integrating an adaptive neural network with a disturbance observer, a composite estimator is developed to tackle the effects of
model uncertainties and time-varying disturbances. The state-constrained problem is addressed using an anti-saturation method based on auxiliary systems.
The uniform boundedness of the controller signal is proven using the Lyapunov method.
Numerical simulations validate the effectiveness of the proposed method in terms of disturbance rejection.
Molecular epidemiolgy of ovine herpesvirus-2 in small ruminants, Sistan region, Iran
Authors: Abdollahi Arya , Saadati Dariush , Rasekh Mehdi , Najimi Mohsen , Sargazi Dariush 
Published: August 2024

Abstract

Malignant catarrhal fever (MCF) is a systemic, sporadic, and fatal viral disease affecting susceptible hosts such as cattle, buffalo, deer, etc. Ovine herpesvirus-2 (OvHV-2) is the main cause of MCF in livestock. OvHV-2 infects sheep and goats asymptomatically, playing a significant role in the virus circulation. in this study the prevalence of OvHV-2 in sheep (n:42) and goats(n:52) through molecular tests conducted in the Sistan region located in the north of Sistan&- Baluchestan province, Iran. OvHV-2 POL and ORF75 Tegument Protein genes were detected in 15/100 samples through Hemi-Nested PCR (15%). BLAST results show 100% identity to the isolations reports from Pakistan (MK852172), Brazil (OP121121), Turkey (MN419921), Egypt (ON952534) and India (OR762746). There was no significant relationship between the virus prevalence and independent variables, including species, age and gender of the animal, clinical symptoms, herd size and location of livestock. These findings indicate that OvHV-2 is circulating in the Sistan region, causing MCF. Since traditional livestock farming is common in the region, carrier species and susceptible hosts are kept together, which is a risk factor for virus transmission to susceptible hosts like cattle. To control and prevent the disease, it is essential to consider separating different livestock species in the region.
The influence of peritumoral parenchyma on local tumor progression of hepatocellular carcinoma after thermal ablation
Authors: Ding Wenzhen , Bi Mingsen , Gao Yongyan , Zheng Lin , Chen JiYe , Liu Fangyi , Yu Jie , Liang Ping 
Published: August 2024

Abstract

Background:
With the increasing importance of thermal ablation (TA) in hepatocellular carcinoma (HCC) treatment, local tumor progression (LTP) has become a nonignorable recurrence type after ablation.
Purposes:
To analyze the influence of peritumoral liver parenchyma on LTP and to explore the possible reasons for this influence
Methods:
Ablated HCCs with peritumoral parenchymal biopsy and ablation margins greater than 5 mm were included from two hospitals. The grade of necroinflammatory activity (G) and stage of fibrosis (S) of the parenchyma were evaluated by Scheuer staging system. Univariate/multivariate Cox model was used to analyze the possible factors influencing LTP. Peritumoral satellite focus rate, ablation energy, ablation volume after treatment, ablation volume after one-month, and volume reduction rate were collected and analyzed to explore the possible reasons for influence. Propensity score matching (PSM) was used to balance baselines across different groups.
Results:
346 HCCs (64 with LTP, 282 without LTP) were enrolled from January 2013 to June 2022, with a median follow-up of 27 months. Univariate/multivariate analysis showed fibrosis was a protective factor in LTP (HR=0.70, 95%CI: 0.55-0.89). The low-fibrosis group exhibited higher satellite focus rate (15.6% vs. 8.4%, p=0.048), lower ablation energy (22637 ± 9424J vs. 33352 ± 13779J, p<0.001) and higher volume reduction rate (0.33±0.06 vs. 0.25±0.06, p<0.001) than the high-fibrosis group. Therefore, we speculated that the protective effect of fibrosis was due to its blocking of tumor invasion and reduction of sublethal zones.
Conclusion:
Fibrosis of the peritumoral liver parenchyma is a stable protective factor in LTP occurrence.