bluuebunny/crossref_metadata_2025 huggingface dataset:
Expanding the phenotypic and genetic spectrum of GTPBP3 deficiency: findings from nine Chinese pedigrees
Authors: Xie Yaojun , Li Keyi , Li Yang , Zeng Xiaofei , Chen Zhehui , Ma Xue , Zhang Luyi , Zhou Yuwei , Jin Liqin , Yang Yanlin , Lou Xiaoting
Published: September 2024

Background
GTPBP3 catalyzes τm5(s2) U biosynthesis at the 34th wobble position of mitochondrial tRNAs, the hypomodification of τm5U leads to mitochondrial disease. While twenty-three variants of GTPBP3 have been reported worldwide, the genetic landscape in China remains uncertain.
Methods
By using whole-exome sequencing, the candidate individuals carrying GTPBP3 variants were screened and identified. Pathogenicity analysis of variants was biochemically verified by patients-derived immortalized lymphocytes and cell models.
Results
Through whole-exome sequencing, thirteen variants associated with GTPBP3 were identified in nine Chinese pedigrees, with eight of these variants being newly reported. Affected individuals displayed classic neurologic phenotypes and heart complications including developmental delay, seizures, hypotonia, exercise intolerance, and hypertrophic cardiomyopathy. Additionally, they displayed new symptoms such as eye problems like strabismus and heart issues related to valve function. Studies conducted on patient-derived cells provided evidence of reduced levels of GTPBP3 and impairment in mitochondrial energetic biogenesis. Re-expressing GTPBP3 variants in knockout cell lines further defined the pathogenicity of the novel variants. Analysis of the genetic spectrum in the Chinese population highlighted a concentration in exons 4 and 6, with c.689A > C being the prominent hotspot.
Conclusion
Our findings emphasize the extensive clinical and genetic implications of GTPBP3-related mitochondrial disorders, particularly within the Chinese population, but further investigations are needed to explore the phenotype-genotype correlation.
Analysis of the Causes and Phenotypic Variations of Acute flaccid paralysis with and without myelitis in a Pediatric Hospital Setting in Taiwan
Authors: Lin Chien-Heng , Fu Ru-Huei , Chou I-Ching , Chang Yu-Tzu , Hong Syuan-Yu
Published: September 2024

Background: Acute flaccid paralysis (AFP) is a clinical syndrome marked by the sudden onset of muscle weakness or paralysis, posing a critical medical emergency due to its potential for rapid progression and significant morbidity and mortality. This study investigates the demographic and clinical characteristics, laboratory findings, and underlying causes of AFP in patients with and without myelitis (M-AFP and NM-AFP, respectively).
Methods: Data were retrospectively collected from 39 patients diagnosed between 2012 and 2021, divided into M-AFP (n=22) and NM-AFP (n=17) groups. Patients with myelitis were identified via clinical symptoms and magnetic resonance imaging findings, while those without myelitis were diagnosed through clinical presentation and various diagnostic tools. Key demographic data, clinical characteristics, and laboratory results, such as cerebrospinal fluid white blood cell count and protein levels, were analyzed.
Results: The study identified distinct etiologies for M-AFP, including multiple sclerosis, herpes simplex virus, and enterovirus, among others. In contrast, NM-AFP was associated with conditions such as polymyositis, Guillain-Barre syndrome, and hypokalemic periodic paralysis. Statistical analysis revealed significant differences in symptoms at onset, with limb numbness more prevalent in M-AFP and myalgia more common in NM-AFP. Although cerebrospinal fluid white blood cell counts were higher in M-AFP, the difference was not statistically significant.
Conclusions: This comprehensive analysis highlights the diverse etiologies and clinical presentations of AFP, emphasizing the need for tailored diagnostic strategies to enhance patient care and outcomes.
Investigating the outcomes of full thickness Skin graft in the reconstruction of concealed penis in children aged 7 to 14 years
Authors: Hosseinpour Mehrdad , Fazeli Ali , Moznebi Davood , Seyedyousefi Sarah
Published: September 2024

Introduction: Concealed penis is a congenital anomaly that affects not only the appearance but also the function of the external genitalia in the male sex. Different surgical methods have been proposed to correct this disorder, including removal of the previous scar, penile shaft, penile trunk skin reconstruction with flap, penile skin fixation in penopubic and penoscrotal angles, and removal of extra pubic fat. In this study, we will discuss the results of definitive surgery in one stage using autogenous skin grafts and examine the details of this technique.
Methods: This study was conducted as a clinical trial in Hospitals related to the Isfahan University of Medical Sciences. Children over the age of 7 years old. A full-thickness graft with a length of 1.5 times the defect and a width of 1 cm was taken from the non-dominant thigh and defatted. The inguinal skin was chosen because it is hairless and next to the penis, and the resulting scar is easily hidden under clothing. Then, the graft was transferred to the operation site and fixed.
Results and conclusion: We proposed a method of treatment for concealed penis, using a full-thickness inguinal graft. Our technique showed promising results with minimal and negligible complications. To fully highlight each process's benefits and limitations and evaluate them against one another, these procedures should, however, be tested on larger populations and compared comprehensively.
Trial Registration: The study was conducted in accordance with the ethical standards of the Isfahan University of Medical Sciences Research Ethics Committee (ethical code: IR.MUI.MED.REC.1402.073) And was registered on 27/05/2023 as a clinical trial in Iranian registry of clinical trials. (IRCT code: IRCT20230513058160N1)
Electroacupuncture for insomnia in Parkinson's Disease: Study protocol for a Multicenter, Randomized Clinical Trial
Authors: Gu Sichun , Li Qiang , Peng Jing , Hao Yong , Ye Qing
Published: September 2024

OBJECTIVE: Insomnia, a prevalent and challenging non-motor symptom of Parkinson's disease (PD), lacks specific acupuncture efficacy data within the PD patient population. The current study is designed to evaluate the effectiveness and safety of electroacupuncture (EA) in comparison to sham electroacupuncture (SA) for PD-related insomnia treatment.
DESIGN, SETTING, AND PARTICIPANTS: We will conduct a multicenter, participant-and assessor-blinded, randomized, sham-controlled clinical trial across seven neurology sites in China. Participants diagnosed with PD and experiencing insomnia will be randomly assigned to receive either EA or SA in a 1:1 ratio.
INTERVENTIONS: The trial intervention will consist of an 8-week treatment phase for EA or SA, complemented by a subsequent 12-week follow-up period.
MAIN OUTCOMES AND MEASURES: The primary outcome will be the change in the Parkinson's Disease Sleep Scale-2 (PDSS-2) score at the end of the intervention (week 8). A range of secondary subjective sleep assessments will also be utilized, including the Insomnia Severity Index (ISI), Epworth Sleepiness Scale (ESS), and the rapid eye movement sleep behavior disorder (RBD) screening questionnaire (RBDSQ). Additionally, scores from the Movement Disorder Society Unified Parkinson’s Rating Scale parts II and III (MDS-UPDRS II and III), and the Parkinson's disease questionnaire (PDQ-39) will be evaluated. For secondary objective sleep parameters, polysomnography (PSG) will provide data on total sleep time (TST), sleep efficiency (SE), wake after sleep onset (WASO), sleep onset latency, REM latency, the proportion of each sleep stage (N1, N2, N3, and REM), the apnea-hypopnea index (AHI), and mean sleep latency (MSL).
TRIAL REGISTER: This trial was registered with the Chinese Clinical Trial Registry on February 26, 2024, https://www.chictr.org.cn/, ChiCTR2400081162.
Upregulated ATG4B Predicts Poor Prognosis and Correlates with Angiogenesis in Osteosarcoma
Authors: Khalil Elzahraa Ibrahim Mohamed , Mohamed Fatma El Zahraa Ammar , Kamal Rehab Mohamed
Published: September 2024

Background: Osteosarcoma (OS) is the most common primary bone cancer in children and adolescents. Patients with metastatic OS experience significantly poorer outcomes, largely due to resistance to chemotherapy. Between 35-45% of these patients do not respond to standard chemotherapeutic treatments, resulting in a very low 5-year survival rate of only 5-20%. This resistance often leads to treatment failures and unfavorable prognoses, highlighting the critical need for new therapeutic targets to improve treatment strategies. Autophagy-related gene 4 B (ATG4B) is a crucial cysteine protease for autophagosome formation. It is overexpressed and correlates with poor prognosis in various cancers. However, the relationship between ATG4B expression and angiogenesis in osteosarcoma remains unexplored. This study investigates the expression levels of ATG4B and VEGF in osteosarcoma and their correlation with clinicopathological data.
Materials and Methods: The study included 67 paraffin-embedded osteosarcoma tissue samples. ATG4B and VEGF expression levels were assessed via immunohistochemistry, and their associations with clinicopathological variables were statistically analyzed. Additionally, ATG4B gene expression in osteosarcoma was examined using GEO data sets from https://www.ncbi.nlm.nih.gov.
Results:The analysis showed that ATG4B and VEGF were expressed in 79.1% and 74.6% of the osteosarcoma samples, respectively. There was a significant positive correlation between ATG4B expression and tumor size, tumor stage, and histological response to neoadjuvant chemotherapy, with p-values of 0.013, 0.008, and 0.022, respectively. VEGF expression also significantly correlated with tumor size, tumor stage, and the presence of distant metastasis at diagnosis, with p-values of 0.022, 0.044, and 0.013, respectively. A notable positive correlation between ATG4B and VEGF expression levels was observed (p=0.002), supported by the GEO dataset analysis.
Conclusions: The results suggest that ATG4B acts as a tumor promoter in osteosarcoma, indicating its potential as a therapeutic target to inhibit tumor growth. Elevated ATG4B levels may also serve as a marker for poor prognosis. Additionally, VEGF overexpression is linked to a higher likelihood of pulmonary metastasis and worse overall prognosis. The positive correlation between ATG4B and VEGF suggests that the absence of both markers could be indicative of a better chemotherapy response, offering insights into potential new treatment approaches.
Comparison of the inhibitory effects between bepotastine and diphenhydramine on rituximab-induced infusion-related reactions: A single-center retrospective study
Authors: Hori Tomoki , Yamamoto Kazuhiro , Nakagawa Tomoaki , Nakagawa Rinako , Okayama Masami , Sudou Tamika , Hamasaki Moe , Yasuda Mai , Kobayashi Shinya , Nakamura Fumihiko , Yagi Hideo , Kitahiro Yumi , Ikushima Shigeki , Yano Ikuko
Published: September 2024

Purpose
Infusion-related reaction (IRR) is a common adverse event induced by rituximab. Although first-generation histamine 1 receptor antagonists (H1RAs) are commonly used for the prevention of IRR, evidence is scarce on the incidence of IRR suppression with the second-generation H1RA bepotastine. This study assessed inhibitory effects of bepotastine on rituximab-induced IRR and compared them with those of first-generation H1RA diphenhydramine.
Methods
We retrospectively evaluated IRR incidence in patients with B-cell non-Hodgkin’s lymphoma who received their first dose of rituximab.
Results
The incidence of IRR was 9.8% in the bepotastine group (n = 92), which was significantly lower than the 30.2% incidence rate in the diphenhydramine group (n = 96; p < 0.001). The median IRR onset time after rituximab administration in the bepotastine group was 60 min, which was significantly shorter than the 120 min of the diphenhydramine group (p = 0.002). Multivariable logistic regression analysis revealed that the risk of IRR incidence was higher in patients with B symptoms (odds ratio [OR] = 2.96, 95% confidence interval [CI]: 1.20–7.27) and bulky disease (OR = 9.12, 95% CI: 2.53–32.9). Bepotastine use as premedication was an independent factor reducing the risk of IRR incidence (OR = 0.19, 95% CI: 0.08–0.47).
Conclusion
Bepotastine more effectively reduced the incidence of rituximab-induced IRR than diphenhydramine, particularly delayed-type reactions.
Comparative studies on CO2 adsorption performance of different morphologies of Silicalite-1 zeolites synthesized from fly ash
Authors: Wu Xianglian , Nulahong Aisha , Tuo Changmin , Li Jian , Xu Fei , Ren Tiezhen , Abulizi Abulikemu
Published: September 2024

Solid waste fly ash has a great impact on the environment and pollutes water, air and soil to different degrees. Therefore, it is of great significance to realize the high-value utilization of fly ash. In this paper, high purity SiO2 was successfully extracted from fly ash by high temperature calcination, alkali fusion activation and pickling, and then different morphologies of Silicalite-1 zeolites were synthesized by using SiO2 extracted from fly ash as silicon source, TPAOH as templating agent and NaOH as alkali source. The influencing factors such as crystallization time, crystallization temperature, NaOH dosage, TPAOH dosage and different hydrosilica ratios were investigated separately. The results show that under the conditions of crystallization time of 12 h, crystallization temperature of 180 ℃ and molar ratio of water-silicon of 42, the prepared P-S (plate-like Silicalite-1) has good morphology, high relative crystallinity and adsorption capacity of CO2 of 1.89 mmol/g. The CO2 adsorption capacity of the S-S (spherical-like Silicalite-1) prepared by adjusting the amount of TPAOH is 1.34 mmol/g. The CO2 adsorption capacity of the prepared C-S (cross-type Na-Silicalite-1) is only 1.06 mmol/g. The CO2 adsorption capacities follow P-S > S-S > C-S. The results may provide a valuable reference for zeolite-based adsorbents in the adsorption removal or recovery of CO2.
The number of available sample observations modulates gambler’s fallacy in betting behaviors
Authors: Li Yutong , Wang Di
Published: September 2024

The gambler’s fallacy is a commonly observed cognitive bias in betting behaviors. It refers to the erroneous belief that an independent and identically distributed random process exhibits negative serial correlation. This belief is often triggered when individuals observe a sample of historical outcomes of the random process. Our study examines the impact of providing more historical information or a larger sample of recent outcomes on the propensity for individuals to commit the gambler’s fallacy in repeated betting scenarios with varying probabilities of winning. Experimentally, we find strong evidence of both the gambler’s fallacy and the hot-outcome fallacy, which predicts the opposite pattern. These fallacies correlate respectively with the frequency and length of consecutive occurrences in the observed sample. Providing a larger sample of observations increases the tendency for the gambler’s fallacy when the probability of winning is low but significantly reduces the fallacy when probabilities are moderate or high. Our results indicate that gambling fallacies are highly sensitive to contextual factors in decision-making, and that in real-life gambling situations, which often involve low chances of winning, providing more sample observations could amplify the gambler’s fallacy.
Effect of Ionizing Radiation Exposure on NOX4 Expression in-Vitro and in-Vivo Studies: A Systematic Review and Meta-analysis
Authors: Hajimirzaei Pooya , Paydar Reza , Razmgir Maryam , Rajabinasab Fatemeh , AhmadiTabatabaei Faeze , Hamblin Michael R , Janzadeh Atousa , Taherkhani Soroush
Published: September 2024

Introduction: Patients exposed to ionizing radiation (IR) from various sources experience several side effects. Understanding the mechanisms through which IR induces these effects could minimize their consequences. This study investigates the activation pathway of NADPH oxidase 4 (NOX4) after exposure to IR.
Methods: The analysis incorporated studies that assessed NOX4 expression as an outcome variable. The study involved searches across various databases. A total of 58 articles were included in the meta-analysis, and data extracted from these studies were analyzed using Comprehensive Meta-Analysis Software.
Results: Analysis of the impact of IR on NOX4 expression, demonstrated a notable increase in protein expression in animals (SMD=3.452; p<0.001), in normal cells in vitro (SMD=2.689; p<0.001), and in cancer cells (SMD=2.159; p<0.05). Furthermore, there was a significant increase in NOX4 mRNA expression in animals (SMD=5.070; p<0.001), in normal cells in vitro (SMD=3.563; p<0.001), and in cancer cells (SMD=3.280; p<0.001). Subgroup analysis was conducted based on the tests utilized to measure NOX4 expression, various organs, IR parameters, and follow-up time after IR.
Conclusion: NOX4 plays a crucial role in mediating radiation-induced damage in many organs. The upregulation of NOX4 expression in these organs is influenced by factors such as the radiation dose and source. Additionally, there was a further increase in NOX4 protein expression over time, highlighting its potential role in the progression of radiation-induced damage in vital organs.
Trends of impairment of the activities of daily living in Chinese elderly: An age-period-cohort analysis
Authors: Zhang Xianqi , Li Xiaoju , Zhao Li , Fan Rong , Dong Jiaxin , Shen Xiaoying , Li Yiyao
Published: September 2024

Background
Based on age, period, and cohort, this study aimed to understand the trend of impairment of activities of daily living (ADL) and its influencing factors in older adults in China and to provide a basis for the development of appropriate interventions.
Methods
This longitudinal follow-up study was conducted on a sample of 40748 cases aged ≥ 60 years from the China Family Panel Studies (CFPS) database of 6 periods, using the six-item ADL scale to measure impaired ability to perform daily activities in older adults. Incorporating independent variables affecting ADL impairment in older adults based on the health ecology theory, a stratified age-period-cohort mixed-effects model was used to analyze the factors influencing impaired ADL in older adults.
Results
Age, different periods, and birth cohort had an independent effect on females suffering from chronic diseases, having lower life satisfaction (dissatisfied, very dissatisfied), living in the western region, residing in rural areas, having per capita household income levels of middle-high, middle-low, lower-middle, lower-middle, and going to specialized and general hospitals were risk factors for ADL impairment in older adults. Smoking, drinking alcohol, exercising, having high life satisfaction (satisfied), being married, having higher education, and having urban/rural/rural residents’ health insurance and employee health insurance were protective factors for ADL impairment in older adults.
Conclusions
It is important to pay further attention to the current situation of ADL impairment in older adults from the perspective of the whole life cycle and the whole population and to take timely and targeted intervention strategies and preventive measures to improve the health of older adults in different dimensions from the individual to the macro level.
A Comprehensive Seroepidemiology of Dengue and Chikungunya Arboviruses in Iran, 2020-2023
Authors: Seyed-Khorami Seyed-Mahmood , Mostafavi Ehsan , Gerdooei Sepideh , Sajadi Seyed Marzieh , Asadi Laya Farhan , Jalali Tahmineh , Pouriayevali Mohammad Hassan , Nikpour Fatemeh , Mirolyaei Abdolreza , Raeisi Ahmad , Arshi Shahnam , Gouya Mohammad Mehdi , Enayati Ahmadali , Zaim Morteza , Salehi-Vaziri Mostafa
Published: September 2024

Aim: are the most common arthropod-borne viruses (Arboviruses) globally. So far, no autochthonous cases of DENV and CHIKV infections have been reported in Iran. Nevertheless, due to the recent identification of Aedes aegypti in the south and Aedes albopictusin the north of Iran, the country is at a serious risk of local outbreaks of these infections.
Methods: Between 2020 and 2023, a comprehensive cross-sectional study was conducted to explore the anti-DENV and CHIKV IgG antibodies in the general populations of both southern and northern regions of Iran using ELISA.
Results: A total of 11192 participants were included, of whom 2.3% (256 individuals) and 0.1% (11 cases) were DENV seropositive and CHIK seropositive, respectively. Across the eight examined provinces, Sistan and Baluchestan province displayed the highest prevalence of dengue seropositive cases (6.80%) (P<0.001). Samples collected in 2022 demonstrated a notably higher seropositive rate of 5.5% (P<0.001). Interestingly, all 11 CHIKV seropositive cases were from Sistan and Baluchestan province.
Conclusion: The seroprevalence of DENV was notably higher in southern regions, particularly in Sistan and Baluchestan province and CHIKV seropositive cases were exclusively found in Sistan and Baluchestan province. This study furnishes crucial insights into the seroepidemiology of DENV and CHIKV in Iran which, in conjunction with the presence of Ae. Aegypti in the south and Ae. Albopictus in the north of Iran, emphasizes the requirement of improving integrated surveillance and control systems in the whole of the country, especially in the south of Iran.
Detection of soft-tissue interposition in Watson-Jones type IV proximal tibial epiphysis injury by FRACTURE: A case report
Authors: Omichi Yasuyuki , Sugimine Yuto , Momota Kaori , Takai Michihiro , Sato Ryosuke , Enishi Tetsuya , Goto Tomohiro , Nakano Shunji , Nishiyama Yukako , Sairyo Koichi
Published: September 2024

Fast field echo resembling a CT using restricted echo-spacing (FRACTURE) is a method of magnetic resonance bone imaging that provides CT-like image contrast based on a high-resolution 3D gradient sequence. This is the first report to describe the detection of soft-tissue interposition in a patient with proximal tibial epiphysis injury by FRACTURE. We present a case of Watson-Jones type IV proximal tibial epiphysis injury in an 11-year-old boy. FRACTURE revealed soft-tissue interposition into the epiphyseal line. Intraoperatively, soft-tissue interposition to the epiphyseal line was confirmed. In addition to the benefit of radiation-free imaging, FRACTURE also allows for the detailed assessment of fracture and the prediction of soft-tissue interposition, which may be useful in determining the treatment strategy for proximal tibial epiphysis injury.
Integrating Functional Proteomics and Next Generation Sequencing Reveals Potential Therapeutic Targets for Taiwanese Breast Cancer
Authors: Ku Wei-Chi , Liu Chih-Yi , Huang Chi-Jung , Liao Chen-Chung , Huang Yen-Chun , Kong Po-Hsin , Chen-Chan Hsieh , Tseng Ling-Ming , Huang Chi-Cheng
Published: September 2024

Integrating functional proteomics and next-generation sequencing (NGS) offers a comprehensive approach to unraveling the molecular intricacies of breast cancer. This study investigates the functional interplay between genomic alterations and protein expression in Taiwanese breast cancer patients. By analyzing 61 breast cancer samples using tandem mass tag (TMT) labeling and mass spectrometry, coupled with whole-exome sequencing (WES) or targeted sequencing, we identified key genetic mutations and their impact on protein expression. Notably, pathogenic variants in BRCA1, BRCA2, PTEN, and PIK3CA were found to be clinically relevant, potentially guiding targeted therapy decisions. Additionally, we discovered trans correlations between specific gene alterations (FANCA, HRAS, PIK3CA, MAP2K1, JAK2) and the expression of 22 proteins, suggesting potential molecular mechanisms underlying breast cancer development and progression. These findings highlight the power of integrating proteomics and NGS to identify potential therapeutic targets and enhance personalized medicine strategies for Taiwanese breast cancer patients.
Prognostic impact of psychoeducation program completion on inpatients with schizophrenia: a pilot cohort study
Authors: Noguchi Hiroki , Tarutani Seiichiro , Takei Yoshiki , Matsumoto Koichi , Okamura Takehiko , Yoneda Hiroshi
Published: September 2024

Background
Psychoeducation programs can reduce the risk of recurrence and readmission in patients with schizophrenia. However, almost all previous studies of program efficacy have included only patients completing the program, which may not be possible in all cases. The objective of this pilot cohort study was to compare the prognoses of inpatients with schizophrenia who did or did not complete a well-established institutional psychoeducation program.
Methods
This study is a pilot cohort study, and the participants were 32 inpatients in the psychiatric acute care ward. Among these patients, 18 completed the institutional psychoeducation program by discharge, whereas 14 missed one or more sessions for various reasons. The primary outcome was the duration of outpatient treatment (DOT) during the 5-year follow-up period, and the secondary outcomes were comparisons of the risk of all-cause discontinuation for outpatient treatment and correlations between the program participation rate and DOT.
Results
DOT was significantly longer in the program completion group than in the noncompletion group (918.2 (174.3) days vs. 225.5 (35.7) days, p = 0.001), and Cox proportional hazards regression analysis revealed that program noncompliance was associated with a 4.089-fold (p = 0.002) greater risk of discontinuation of outpatient treatment according to univariate analysis and a 2.937-fold (p = 0.030) greater risk according to multivariate analysis. A significant weak correlation was found for DOT and rates of sessions admitted to the programme (Pearson's r = 0.384, p = 0.030).
Conclusions
Completion of a psychoeducation program dramatically enhanced the success of outpatient treatment. Because of the significant impact of outpatient treatment on prognosis, inpatient psychoeducation programs should be sufficiently flexible to provide opportunities for completion.
Single-cell transcriptomic analysis reveals impaired mitochondrial gene expression in the podocytes of a child with primary coenzyme Q10 nephropathy.
Authors: Park Peong Gang , Choi Sowon , Ahn Yo Han , Kim Seong Heon , Kim Chaeyoon , Kim Hyun Je , Kang Hee Gyung
Published: September 2024

Background
Coenzyme Q10 (CoQ10) nephropathy is a well-known cause of hereditary steroid-resistant nephrotic syndrome, primarily impacting podocytes. This study aimed to elucidate variations in individual cell-level gene expression in CoQ10 nephropathy using single-cell transcriptomics.
Methods
We conducted single-cell sequencing of a kidney biopsy specimen from a 5-year-old boy diagnosed with a CoQ10 nephropathy caused by a compound heterozygous COQ2 mutation. The analysis focused on the proportion of cell types, differentially expressed genes in each cell type, changes in gene expression related to mitochondrial function and oxidative phosphorylation (OXPHOS).
Results
Our findings revealed a uniform downregulation of mitochondrial gene expression across various cell types in the context of these mutations. Notably, there was a specific decrease in mitochondrial gene expression across all cell types. The study also highlighted an altered immune cell population proportion attributed to the COQ2 gene mutation. Pathway analysis indicated a downregulation in OXPHOS and an upregulation of various synthesis pathways, particularly in podocytes.
Conclusion
This study improves our understanding of CoQ10 nephropathy's pathogenesis and highlights the potential applications of single-cell sequencing in hereditary kidney diseases.
Assessment of Point-of-Care Ultrasound Accuracy in Estimating Left Ventricular Ejection Fraction by Internal Medicine Trainees: A Prospective Observational Study
Authors: Santirotjanakul Asama , Assavapokee Taweevat
Published: September 2024

Background
In internal medicine, resident physicians play a crucial role in initial patient assessments, necessitating proficiency in left ventricular ejection function (LVEF) evaluation. Point-of-Care Ultrasound (POCUS) offers a potential alternative to formal transthoracic echocardiography (TTE) for LVEF assessment, yet its utility among internal medicine residents remains underexplored.
Aims
This prospective observational study aimed to evaluate the accuracy of POCUS performed by internal medicine residents in predicting LVEF compared to formal TTE conducted by sonographers and interpreted by cardiologists.
Method
Thirty-five inpatients underwent both POCUS and formal TTE for LVEF estimation by internal medicine residents and cardiologists, respectively. Internal medicine residents received training sessions on POCUS, consisting of lectures and hands-on practice.
Results
Internal medicine residents demonstrated excellent proficiency in LVEF assessment, achieving a 97.14% accuracy rate in distinguishing between normal and abnormal function. Agreement between residents and cardiologists on abnormality detection was substantial (κ = 0.9249 ; p < 0.001). Additionally, residents accurately categorized LVEF into severity categories in 91.43% of cases, with substantial agreement observed (κ = 0.7831; p < 0.001).
Conclusions
Our study highlights the potential of POCUS as a viable alternative to traditional TTE for LVEF assessment in clinical practice. Despite limitations such as sample size and lack of outpatient data, the findings underscore the importance of integrating POCUS training into internal medicine residency programs. Further research is warranted to validate these findings and explore the broader applications of POCUS in cardiovascular care.
New Methods Collection to Identify the Buildingand Decoration Stones Provenance
Authors: Kovářová Kateřina , Matoušková Eva , Cihla Michal , Dáňová Helena , Roháček Jiří
Published: September 2024

When investigating historical building stones, we often encounter an issue concerning the original material provenance identification. Addressing this issue is usually rather complicated due to the unavailability of samples to conduct a petrographic analysis that itself often cannot fully identify the site of acquisition. It is therefore imperative to focus on non-destructive research methods applicable in the field. Great emphasis is placed on interdisciplinarity with experts from a variety of fields contributing to the achievement of relevant results. The reflectance spectroscopy method in the near- and mid-infrared spectral range (1000–2500 nm), a simple and effective method to be applied in situ, is used for non-destructive identification of stone provenance. A unique spectral reflectance curve representing the reflectance in percentages versus the wavelength can be defined for each material. Consequently, the curve can be compared with spectra in the pre-prepared library in order to find the one best corresponding to the investigated curve to identify the material. The applied traceology methods are used to determine the approximate age of the stone elements to specify the achieved results, and not least, they are compared with the results of archival and art history research. Within our research, these methods were applied during the investigation of historical stone artefacts and masonry in St Vitus Cathedral, located in Prague, Czech Republic. The achieved results corroborate a high potential of the selected methods and approaches.
Composition analysis and mechanism of Guizhi Fuling capsule in anti-cisplatin-resistant ovarian cancer
Authors: Dou Lei , Lu Enting , Li Fangmei , Tian Dongli , Deng Lei , Zhang Xue , Zhang Rongjin , Li Yin , Zhang Yi , Sun Ye
Published: September 2024

Objective
Cisplatin is the main chemotherapy drug for advanced ovarian cancer, but drug resistance often occurs. The aim of this study is to explore the molecular mechanism by which Guizhi Fuling capsule inhibits cisplatin resistance in ovarian cancer.
Methods
First, differences in cisplatin resistance, PA2G4 gene expression, migration, and invasion in A2780 cells and A2780/DDP cells were analyzed by qRT-PCR, scratch assay, transwell, immunofluorescence, and western blotting. Then, LC-MS/MS analysis of GFC chemical composition. qRT-PCR, scratch tests, transwell, pseudopodium formation, immunofluorescence, and western blotting were used to explore the mechanism by which GFC inhibited A2780/DDP cell migration and invasion. Finally, the anti-tumor efficacy of GFC was verified by in vivo experiments.
Results
A2780/DDP cells had a greater ability to migrate and invade compared to their parents. Cell viability experiments showed that the migration and invasion ability of A278/DDP cells were significantly inhibited with the increase of GFC concentration. qRT-PCR results showed that compared with the blank control group, cisplatin group and GFC group, the transcription level of PA2G4 gene in the combination treatment group was significantly reduced. We also found that GFC combined with cisplatin inhibited the PI3K/AKT/GSK-3β signaling pathway by targeting PA2G4 gene expression, inhibited the epithelial-mesenchymal transition signaling pathway, decreased cell adhesion and inhibited the formation of cell pseudopodias.
Conclusion
GFC combined with cisplatin can target PA2G4 gene to regulate PI3K/AKT/GSK-3β Signaling pathway, inhibiting the invasion and migration of cisplatin resistant A2780/DDP cells in ovarian cancer.
Effects of defaunation of large seed dispersers, habitat loss and fragmentation on the population expansion of a tropical palm
Authors: Fernandes Patrick Faria , Pedro Vinícius de Avelar São , Souza Breno de Lima , Moreira-Silva Camila , Portela Rita de Cássia Quitete , Mendes Eduardo Teles Barbosa , Scarascia Pietro de Oliveira , Carvalho Carolina da Silva
Published: September 2024

Content
Habitat degradation and hunting are the main causes of the reduction in fauna diversity, richness, and biomass, characterizing defaunation. Large animal species are the most affected by this process, compromising ecosystem services such as seed dispersal.
Objectives
We evaluated the effects of the nonrandomdefaunation of large seed dispersers, habitat loss and fragmentation on the expansion dynamics of tropical palms (Euterpe edulis) populations.
Methods
We modeled the spatial dynamics of the species via RangeShiftR in landscapes with different degrees of habitat percentage and fragmentation, simulating two distinct scenarios: nondefaunated, with a complete assembly of seed dispersers, and defaunated, with an impoverished assembly of large frugivores. Then, we developed linear regression models, and the best model was selected using the Akaike information criterion.
Results
Habitat loss, fragmentation, and defaunation synergistically affect the abundance and density of palm hearts. Furthermore, the interaction effect between defaunation and habitat percentage was significant, indicating that in nondefaunation scenarios, the abundance and occupation of palm hearts increase substantially. Additionally, habitat loss has a greater effect on population expansion than fragmentation, which has a lower predictive power.
Conclusion
These results help addressthe individual and synergistic effects of defaunation, habitat loss and fragmentation on the population expansion of palm hearts. Our models contribute to the strategic planning of actions aimed at the conservation of palm hearts, highlighting habitat loss as a central point in allocating efforts for the protection of this species, as well as the importance of considering fauna data in estimates of the population expansion capacity of plant species.
Online and Hybrid Delivery of a Multi-Group Family Intervention for Families Living with Parental Mental Illness: Qualitative Evaluation Study
Authors: Moltrecht Bettina , Edbrooke-Childs Julian , Labno Angelika , Merrick Hannah , Lange Aurelie M C , Ravaccia Giulia
Published: September 2024

In the UK 1 in 4 children are exposed to parental mental illness (PMI). Families living with PMI are poorly provided for across social and mental health care settings. Whole-family interventions can reduce associated risks, enhance families’ overall functioning, mental health, and wellbeing. We evaluated how families experienced a modified version of KidsTime, a whole-family intervention for families living with PMI. KidsTime is normally delivered in-person, here we evaluated a modified version that was delivered online and in a hybrid approach throughout the COVID-19 pandemic. We used a qualitative research design involving semi-structured interviews and focus groups with parents/carers, children and intervention facilitators. We collected and analysed data from 22 families and 6 facilitators. Thematic reflexive analysis was used to analyse the data. The intervention was perceived as acceptable. The hybrid delivery approach was considered to cater for a wider range of families wanting to take part. We generated seven themes that reflect participants’ experiences with the intervention: (1) delivery modes, online, in-person and hybrid; (2) intervention content, structure and format; (3) families’ beliefs, attitudes and feelings; (4) learning; (5) social connection; (6) support and positivity; (7) observed changes and perceived impact. Based on participants’ feedback we provide insights into possible benefits and change mechanisms of the intervention. We give suggestions for clinical practice and how the intervention and its delivery can be improved. Future research should focus on: (1) co-design activities with families to help refine the intervention further and (2) confirming the intervention’s effectiveness in sufficiently powered trials.
Dissecting the Population Structure, Diversity and Genetic Architecture of Disease Resistance in Wild Emmer Wheat (Triticum turgidum subsp. dicoccoides)
Authors: Adhikari Laxman , Olivera Pablo , Yu Guotai , Raupp John , Sela Hanan , Distelfeld Assaf , Wulff Brande , Steffenson Brian , Poland Jesse
Published: September 2024

Background
Wild emmer wheat (WEW) (Triticum turgidum subsp. dicoccoides) is one of the important crops domesticated in the Neolithic revolution that shifted humanity to agrarian societies. Leveraging whole-genome sequencing (WGS) data from 291 accessions at ~ 9.5x coverage, we identified 3.4 million high-quality SNP markers and utilized them for population genetics and evolutionary studies. We also conducted Genome-wide association studies (GWAS) for seedling-stage resistance to five races of stem, leaf, and stripe/yellow rust pathogens. We investigated candidate genes using ortholog sequence alignment.
Results
Phylogenetic clustering, principal component analysis, and population structure assessment revealed distinct genetic subgroups within WEW, specifically the Northern Population, Southern Levant (SL) population, and a highly distinct subgroup near the Sea of Galilee, known as race judaicum. Diversity and pairwise FST analyses highlighted varying levels of genetic diversity and distances among these subpopulations. The SL accessions exhibited higher resistance to all races of the three rust pathogens compared to Northern and judaicum populations. GWAS identified 28, 25, and 32 significant loci associated with stem, leaf, and stripe rust resistance, respectively. Major loci explained up to 60% of phenotypic variation and some loci were linked to multiple races and some were novel. Accessions such as TA11204, TA1041, TA1047, TA11196, TA77, TA93, TA1065, and TA66 demonstrated broad resistance to multiple races.
Conclusions
In summary, this study provides rust resistance WEW germplasms and guides future research on the selection and introgression of rust resistance loci from WEW into cultivated bread and durum wheat, contributing to the stable production of these important food crops.
DC Conductivity and Dielectric Studies of (Sb-B-P) 2 O 11 Glasses Doped with MnO, NiO and CoO
Authors: Guntu Ravi Kumar
Published: September 2024

The novel investigations on Raman spectra, elastic, electrical and dielectric studies of Sb2O3 inclusive lithium floro borophosphate glasses doped with Mn2+, Ni2+ and Co2+ transition metal ions is needful to introduce novel mechanically flexible, electrically challenging, and valuable dielectric resource. Based on importance, to describe structure employing XRD, EDX, and Raman spectra studies, followed by electrical, elastic, and dielectric studies of glasses, here we have selected the three series of glasses with a chemical composition of P60B10Sb10Li(19.85):Co(0.15), P60B10Sb10Li(19.8):Ni(0.2), and P60B10Sb10Li19.7:Mn(0.3) for the current analysis. Through various characterization, the selected series of glasses are taken for better comparison. The structure of selected series of glasses as compared. Which are found to be amorphous or glassy. The density, elastic modulus, and micro-hardness values e compared in specific. This suggests that lass with 0.2 mol% of MnO exhibits in comparison. The Raman studies are utilized to evaluate the compositional dependence of different vibrational modes and structural units of glasses. The Raman studies suggested a higher degree of nonlinear disorder within the glasses, increasing MnO, NiO, and CoO concentrations. The elastic properties of the selected series of glasses are compared. The density, elastic modulus, and micro-hardness values s are compared in specific., This suggests that the glass with 0.2 mol% of MnO exists exhibits better comparison. The values of D.C conductivity in the selected series of the glasses are compared, which indicates the glass with 0.2 mol% of MnO exhibiting a better D.C. conductivity range in comparison. The value of the density of states, activation energy, and dielectric constant of the selected glasses is compared. Indicates the glass with 0.2 mol% of MnO exhibiting a better dielectric range in comparison. Parallel to this, the edge of dielectric relaxation near the room temperature of the selected glasses is comp. This also suggests the glass with 0.2 mol% of exhibits a better dielectric range in comparison.
Dielectric Nanoceramics for S-Band Applications: Zinc Aluminate Enhanced with Titanium and Magnesium
Authors: Siragam Srilali
Published: September 2024

A straightforward sol-gel technique was used to prepare a nanoceramic composite material consisting of 89Wt%(ZnAl2O4TiO2) and 11Wt%MgTiO3 (ZTMg), designed to enhance dielectric properties for miniature patch antennas in wireless applications. X-ray diffraction (XRD) analysis revealed anatase-rutile phases in TiO2, a wurtzite hexagonal shape in ZnAl2O4 (Gahnite), and MgTi2O5 phases. Raman spectroscopy identified distinct vibration modes corresponding to ZnO at 346 cm⁻¹ and TiO2 at 717 cm⁻¹. The morphological structure of ZTMg was examined using field emission scanning electron microscopy (FESEM), showing the formation of agglomerated spherical nanoparticles. Energy-dispersive X-ray spectroscopy (EDS) displayed elemental peaks of Zn, Ti, Al, O, and Mg. The calculated mean grain size was 19.26 nm. The conductivity of the ZTMg nanoceramic composite material increased with frequency at various temperatures. As the operating frequency rose, the nanoceramic composite dielectric material exhibited commendable dielectric properties ranging from 13.46 to 19.39, with a reduced dielectric loss (0.25–0.64) in the temperature range of 30–150°C, making it suitable for microwave applications. The fabricated prototype antenna showed excellent performance in both measured and simulated results, with return loss (RL) values of -20.51/-12.53 dB, bandwidth (BW) of 1.36/2.02 GHz, and resonant frequency (fr) of 3.25/3.30 GHz.
Fluorescence detection for enrofloxacin by using Aptamer and fluorophore SYBR Green I
Authors: Li Chen-Chen , Kong Wei-Chuang , Cui Jia-Le , Li Xin-Long , Meng Ya-Li , Jia Xiao-Juan , Zhang Xiao-Lei , Kang Yan-Fei
Published: September 2024

Enrofloxacin (ENR), as a type of antimicrobial, is commonly used in animal sterilization. However, excessive ENR residues in food will seriously harm human health. Therefore, in this work, we developed a quantitative fluorescence method for ENR based on aptamer and SYBR Green I (SG-I). DNA aptamers with G-quadruplex space structure can be recognized and inserted by SG-I to emit intense green fluorescence. In the presence of ENR, the aptamer preferentially recognized and bound specifically to ENR resulting in the change of aptamer conformation, which prevented the SG-I from inserting into the aptamer to cause fluorescence quenching. The aptamer sensor can quantitatively detect ENR with linear concentration range of 0-600 nM, and the limit of detection was 0.158 nM. The aptamer sensor was used detecting ENR in chicken, fish and pork samples with recovery rate from 99.74–104.02%, and relative standard deviation (RSD) of ENR of less than 6%. Therefore, this aptamer-based sensor provided the fluorescence detection method for ENR in food safety.
Factors associated with having one or more risky sexual behaviors among adolescent girls and young women in Rwanda: population-based survey using 2018/2019 RPHIA data
Authors: Iradukunda Ange Joseline , Ikuzo Basile , Nzeyimana Zephanie
Published: September 2024

Background
Adolescent girls and young women (AGYW) aged 15 to 24 years present disproportionately higher risk of HIV acquisition and unintended pregnancies (Ups) across the globe. The risks mainly due to risky sexual behaviors (RSBs) like sex for money or favor and sex without condom among others.
Methods
This study was conducted to assess factors associated having one or more RSBs among AGYW. Using STATA version 15, we analyzed Rwanda population-based HIV impact Assessment (RPHIA) survey data. Data were analyzed at univariable, bivariable, and multiple logistic regression analysis levels. Statistical significance was set at p value less than 0.05.
Settings:
Population based survey conducted in Rwanda, Eastern Africa.
Results
Of the 6,753 AGYW enrolled in RPHIA, 19.4% had one or more risky sexual behavior(s) including sex without a reliable method of contraception (11.0%), extra- marital sex without a condom (5.9%), sex before age of 15 (5.1%), sex for gifts/favor/money (4.4%), having multiple sexual partners (4.0%), transgenerational sex (0.7%), and anal sex (0.3%). Factors determining having one or more RSBs among AGYW include ever been pregnant [aOR: 19.2 with 95% C.I:15.8–23.4], pregnant by the time of interview [aOR: 10.5 with 95% C.I:7.5–14.6], sex before age of 15 [aOR: 2.1 with 95% C.I: 1.5–2.8], being married [aOR: 1.6 with 95% C.I:1.1–2.2], and cohabiting [aOR: 1.4 with 95% C.I:1.1–1.8].
Conclusion
Overall RSBs remain a major public health threat in Rwanda. Thus, the need for sexual and reproductive health services (SRHS) appropriate to AGYW focusing condom use, delaying age of sexual debut, and contraception use to prevent their risks to HIV and unintended pregnancies.