International Journal of Health Sciences-IJHS最新文献

Objectives: Autism spectrum disorder (ASD) is a neurological condition that affects social communication and causes repetitive behavior. Autistic children often have comorbidities such as epilepsy. Although the co-occurrence of epilepsy and ASD is frequent, the genetic basis for this association is not fully understood. Many cases of ASD and epilepsy remain unresolved without a molecular diagnosis. The purpose of this study was to determine the molecular diagnostic yield in two Saudi families with a single affected offspring with both ASD and epilepsy using whole-exome sequencing (WES).

Methods: Pediatric patients were diagnosed by a pediatric psychiatrist and neurologist, and diagnosed according to the diagnostic and statistical manual of mental disorders (DSM-V) criteria. WES was used to analyze the coding region of DNA from the two trios. Enrichment analysis was performed on the final list of genes.

Results: De novo variations were detected in eleven genes (two in ZBTB17 and FRG, and one each in CAD, CTNNA3, GILGA8J, CCZ1, CASKIN1, growth differentiation factor (GDF7), NBPF10, DUX4L4, and ZNF681). Variations in CTNNA3, GOLGA8J, CASKIN1, CCZ1, and NBPF10 genes were correlated to autism. In addition, similar studies found that CAD, CASKIN1, and GOLGA8J were candidate genes for epilepsy. FRG1 and DUX4 variations were associated with facioscapulohumeral muscular dystrophy. The expression of ZBTB17 and GDF was high in nervous system, and variations in these genes might be correlated to autism and epilepsy.

Conclusion: Not all the genes presumed to cause ASD and epilepsy in this study were previously identified, suggesting that more genes were suspected of being involved in ASD and epilepsy co-occurrence.

Objective: This study investigates the role of Apoptotic Protease Activating Factor-1 (APAF-1) in CD4+ cell depletion among human immunodeficiency virus (HIV) patients.

Materials and methods: This is a cross-sectional study in which 105 participants were enrolled, including 60 confirmed HIV-positive patients and 45 HIV-negative controls. HIV-positive patients were further divided based on CD4+ cell counts: Group 1 (<200), Group 2 (200-499), and Group 3 (≥500). An enzyme-linked immunoassay was used to measure APAF-1 levels, and CD4+ T-cell counts were enumerated using a Cyflow counter. Independent student's t-test, Kruskal-Wallis, and Spearman's correlation were utilized as needed.

Results: Results showed significant reductions in lymphocytes, platelets, red blood cells, hemoglobin, albumin, and CD4+ cell values among HIV-infected individuals compared to controls. Conversely, APAF-1 and total protein levels were elevated in HIV-positive patients. Among HIV-positive groups, those with CD4+ cell counts <200 exhibited the highest median serum APAF-1 concentration. However, these differences were not statistically significant when compared with the other seropositive groups with CD4+ cell counts between 200 and 499 (P = 0.6726) and CD4+ cell counts of 500 or greater (P = 0.4325). The control group had the lowest median SAPAF-1 concentration, significantly different from HIV-positive groups. Positive correlations were observed between CD4+ counts and lymphocytes, hemoglobin, and hypoalbuminemia, while negative correlations were found between these parameters and APAF-1 levels.

Conclusion: APAF-1 is a host factor that potentially contributes to CD4+ cell depletion. Similarly, APAF-1, serum total protein, and albumin levels were found to be predictive of disease progression and could serve as valuable diagnostic biomarkers in the monitoring of HIV/AIDS.

Objectives: Reinforcement of polymethylmethacrylate (PMMA) denture base resins (DBRs) with inorganic fillers with superior properties and accepted aesthetics are favored and still a big dilemma. This study was undertaken to evaluate the color change, flexural strength, and modulus of elasticity of heat-polymerized DBR material modified with silver nanoparticles (AgNPs) and zirconium dioxide nanoparticles (ZNPs).

Methods: Sixty acrylic specimens (30/color test, 30/flexural properties) were fabricated and divided according to nanoparticles type and addition into 3 groups (n = 10). Group-I; unmodified specimens, Group-II; modified specimens with 0.5wt% AgNPs (PMMA/AgNPs), and Group-III; modified specimens with 7.5wt% ZNPs (PMMA/ZNPs). Disc-shape (20 × 3 mm) and bar-shape (65 × 10 × 2.5 mm) specimens were fabricated for color and flexural properties, respectively. The spectrophotometer was used for evaluation of the color change (∆E). The flexural strength and elastic modulus evaluation was carried out using a 3-point bending test (5 mm/min). Tukey's post hoc and one-way ANOVA were used to analyze the data at a significant level P ≤ 0.05.

Results: PMMA/AgNPs group exhibited a significant increase in color change when compared with PMMA/ZNPs. PMMA/ZNPs showed significantly the highest flexural strength value when compared with unmodified and PMMA/AgNPs groups (P < 0.001), however, there was an absence of significant differences in terms of flexural strength values between PMMA/AgNPs and unmodified groups (P > 0.05). PMMA/AgNPs insignificantly increased its modulus of elasticity strength (P = 0.09410) while PMMA/ZNPs significantly increased its modulus of elasticity strength (P = 0.00396).

Conclusion: The AgNPs and ZNPs addition to PMMA increased the color change and AgNPs change the color of DBRs. The flexural attributes of DBRs have been increased by ZNPs.

Objectives: Given the adverse effect of liver injury on a multitude of body functions, it is vital to understand its underlying mechanism and how to overcome it. In this study, lipopolysaccharide (LPS) was used to induce liver injury, while sulforaphane (SFN), a natural phytochemical, was used as the antagonist to overcome the deleterious effect.

Methods: Twenty-four mice were divided into three groups: Control group (0.9% saline), LPS induction group (0.75 mg/kg), and SFN treatment (25 mg/kg) followed by LPS induction group (0.75 mg/kg), all with access to food and water ad libitum. Blood samples from retro-orbital sinus were used to measure liver function through two aminotransferases (i.e., alanine transaminase [ALT] and aspartate transaminase [AST]) whereas liver homogenate was used to measure glutathione (GSH), catalase (CAT), and superoxide dismutase (SOD) (antioxidant activity markers); caspase-3 (apoptosis marker); malondialdehyde (MDA) (lipid peroxidation marker); and NO. AMP-activated protein kinase (AMPK), a cellular energy homeostasis and lipid metabolism sensor, was also measured. Statistical analysis including normalization, analysis of variance, Kruskal-Wallis test, and significance of P < 0.05 were applied to all collected data.

Results: SFN treatment significantly attenuated all tests compared to the induced liver injury by LPS where significant reduction was observed in the levels of hepatic function markers (AST and ALT), lipid peroxidation marker (MDA) as well as apoptosis marker (caspase-3) whereas a marked increase was observed for antioxidant activity markers (SOD, CAT, and GSH) and AMPK.

Conclusion: These results indicate the protective effect of SFN as it re-instated the levels of antioxidation while decreasing the level of the biomarkers, which were significantly increased during liver injury induction by LPS.

Objective: Information theory has been successfully employed to identify optimal pathway networks, mutual information (MI), and entropy as a dynamic response in statistical methods and estimate input and output information in systems biology. This research aims to investigate potentially integrated gene signatures for bone metastasis using graph-based information theory from the dynamic interaction interphase.

Methods: The expression dataset with the series ID GSE26964 for bone metastasis from prostate cancer was retrieved. The dataset was segregated for differentially expressed genes (DEGs) using the Human Cancer Metastasis Database. MI was considered to capture non-linear connections to classify the key DEGs from the collected dataset using gene-gene statistical analysis and then a protein-protein interaction network (PPIN). The PPIN was used to calculate centrality metrics, bottlenecks, and functional annotations.

Results: A total of 531 DEGs were identified. Thirteen genes were classified as highly correlated based on their gene expression data matrix. The extended PPIN of the 13 genes comprised 53 nodes and 372 edges. A total of four DEGs were identified as hubs. One novel gene was identified with strong network connectivity.

Conclusion: The novel biomarkers for metastasis may provide information on cancer metastasis to the bone by implying MI and information theory.

Objective: The present study was designed to investigate the nephroprotective and immunoprotective effects of S-adenosyl-L-methionine (SAMe) in comparison to N-acetylcysteine (NAC) against ochratoxin A (OTA) - intoxication.

Methods: Forty-eight adult male Sprague-Dawley rats were categorized into four groups: Control; OTA intoxication (5 mg OTA/kg diet); OTA + NAC, rats received 200 mg NAC/day before feeding balanced diet contaminated with OTA; and (OTA + SAMe). Rats received 200 mg SAMe/day dissolved in distilled water orally just before feeding a balanced diet contaminated with OTA.

Results: OTA administration altered serum kidney function biomarkers. These effects were pronouncedly alleviated by treatment with NAC. Results revealed a correlation between OTA-induced immunotoxicity and the reduced white blood cell (WBC) count. Treatments with SAMe significantly improved the WBCs count and hemoglobin concentration.

Conclusion: NAC and SAMe have a protective role against nephrotoxicity and immunotoxicity induced by continuous administration of OTA. NAC was more effective in reducing OTA nephrotoxicity, whereas SAMe was more potent than NAC in reducing OTA immunotoxicity.

Objectives: Silver nanoparticles (AgNPs) are gaining increasing attention in biomedical applications due to their unique properties. Green synthesis methods are environmentally friendly and have demonstrated potential for AgNP production. This study explores the green synthesis of AgNPs using the methanolic extract of Euphorbia milii, a plant known for its medicinal properties. The primary objectives of this research were to synthesize AgNPs using E. milii extract, characterize the nanoparticles (NPs) using various techniques, and evaluate their antibacterial and enzyme inhibitory activities.

Methods: E. milii plant extract was utilized for the green synthesis of AgNPs. The characterization of the NPs was performed through ultraviolet-visible spectroscopy (UV-Vis), Fourier-transform infrared spectroscopy, scanning electron microscopy, and energy-dispersive X-ray spectroscopy (EDX). Antibacterial activity was assessed against Staphylococcus aureus, while enzyme inhibitory assays were conducted against urease, α-glucosidase, carbonic anhydrase II, and xanthine oxidase.

Results: The synthesized AgNPs exhibited significant antibacterial effects, with a remarkable 20-mm zone of inhibition against S. aureus, surpassing the efficacy of the plant extract alone. Furthermore, the AgNPs demonstrated remarkable enzyme inhibition, achieving impressive percentages of 77.98% against α-glucosidase and 88.54% against carbonic anhydrase II. Half-maximal inhibitory concentration values for enzyme inhibition were highly promising, including 78.09 ± 1.98 μM for α-glucosidase, 0.22 ± 0.10 μM for carbonic anhydrase II, and 7.11 ± 0.55 μM for xanthine oxidase.

Conclusion: In this study, AgNPs were successfully synthesized using E. milii extract and characterized using various techniques. The AgNPs exhibited significant antibacterial and enzyme-inhibitory activities, showcasing their potential for biomedical applications.

Objective: Cardiovascular diseases (CVD) are the leading cause of death globally. Metabolic syndrome (MtS) is a risk factor that increases the likelihood of CVD. The atherogenic index (AIP), calculated as the logarithm of the ratio of triglycerides (TG) to high-density lipoprotein cholesterol (HDL) cholesterol in plasma, is a valuable marker for highly atherogenic small dense low-density lipoprotein cholesterol particles. This study aimed to explore MtS prevalence and investigate the potential of using the AIP as a predictor for CVD risk factors in adults from the Qassim region of Saudi Arabia.

Methods: The cross-sectional study enrolled 589 participants from public hospitals in nine major cities who completed a detailed questionnaire on health, diet, and lifestyle. Anthropometric measurements and some clinical parameters were measured.

Results: The findings indicated a significant prevalence of MtS (37.5%) among participants from the Qassim Area, which was higher in males (39.9%) than females (34.9%). Nevertheless, a significant prevalence was shown for CVD risk factors among participants, with hyperglycemia (78.1%), hypertriglyceridemia (39.0%), hypo-HDL-cholesterolemia (38.9%), and hypertension (21.6%) being common. The AIP's performance in identifying CVD risk factors showed a receiver operating characteristic value of 0.909 (P < 0.001). The optimal cutoff value for the AIP was determined to be 0.468, demonstrating high sensitivity (84.8%) and specificity (78.6%).

Conclusion: Incorporating AIP into clinical practice could enhance CVD risk prediction compared to using lipid profiles alone. These findings suggest that there is a high prevalence of MtS among adults in the Qassim region of Saudi Arabia. Further longitudinal studies are needed to recommend AIP as a robust tool for predicting CVD in clinical settings.