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Global estimates on the number of people blind or visually impaired by cataract: a meta-analysis from 2000 to 2020
No full textBackground: To estimate global and regional trends from 2000 to 2020 of the number of persons visually impaired by cataract and their proportion of the total number of vision-impaired individuals. Methods: A systematic review and meta-analysis of published population studies and gray literature from 2000 to 2020 was carried out to estimate global and regional trends. We developed prevalence estimates based on modeled distance visual impairment and blindness due to cataract, producing location-, year-, age-, and sex-specific estimates of moderate to severe vision impairment (MSVI presenting visual acuity <6/18, ≥3/60) and blindness (presenting visual acuity <3/60). Estimates are age-standardized using the GBD standard population. Results: In 2020, among overall (all ages) 43.3 million blind and 295 million with MSVI, 17.0 million (39.6%) people were blind and 83.5 million (28.3%) had MSVI due to cataract blind 60% female, MSVI 59% female. From 1990 to 2020, the count of persons blind (MSVI) due to cataract increased by 29.7%(93.1%) whereas the age-standardized global prevalence of cataract-related blindness improved by −27.5% and MSVI increased by 7.2%. The contribution of cataract to the age-standardized prevalence of blindness exceeded the global figure only in South Asia (62.9%) and Southeast Asia and Oceania (47.9%). Conclusions: The number of people blind and with MSVI due to cataract has risen over the past 30 years, despite a decrease in the age-standardized prevalence of cataract. This indicates that cataract treatment programs have been beneficial, but population growth and aging have outpaced their impact. Growing numbers of cataract blind indicate that more, better-directed, resources are needed to increase global capacity for cataract surgery
Identification of Novel Functional Single Nucleotide Polymorphisms in the BRCA1 Gene of Breast Cancer Patients
No full textBreast cancer is the most common cancer in women, making for one-third of all malignancies in females. Between 40 and 45 percent of instances of hereditary breast cancer are caused by mutations in the breast and ovarian cancer susceptibility gene 1 (BRCA1). Breast cancer risk is raised by mutations in its Really Interesting New Gene (RING) and BRCA1 C-Terminal (BRCT) domains. Thus, the goal of this study was to identify new mutations in the BRCA1 gene's RING and BRCT domains. To examine BRCA1 mutation spectra, 107 patients were chosen who had a documented family history of ovarian or breast cancer. Direct DNA sequencing and single-stranded conformational polymorphism (PCR-SSCP), both based on the polymerase chain reaction, were used to screen for mutations in the RING and BRCT domains of the BRCA1 gene. In-silico analysis was used for the in-vitro research outcome. The study's findings indicated that the population carries several BRCA1 sequence variations, including C.55C > A, C.36A > T, C.60A > T, C.199G > C, C.164A > T, C.251A > G, C.4996T > G, C.5032A > T, C.5041A > G, and C.5291T > A. The Breast Cancer Information Core (BIC) searched and examined the mutations. Every mutation was a new mutation. Additionally, a bioinformatics investigation revealed that several variations had an impact on the pathogenicity and stability of the protein. After calculating the relative risk (RR) of research linked to danger, it was found that there was a strong correlation (RR = 1) between the newly discovered genetic mutations and an elevated risk of breast cancer. Our research emphasizes the value of mutation screening in cases of familial ovarian or breast cancer, as well as the possible ramifications of these results for genetic counseling and cancer prevention
The Role of Glial Fibrillary Acidic Protein as a Biomarker in Multiple Sclerosis and Neuromyelitis Optica Spectrum Disorder: A Systematic Review and Meta-Analysis
No full textThere is debate on the role of glial fibrillary acidic protein (GFAP) as a reliable biomarker in multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD), and its potential to reflect disease progression. This review aimed to investigate the role of GFAP in MS and NMOSD. A systematic search of electronic databases, including PubMed, Embase, Scopus, and Web of Sciences, was conducted up to 20 December 2023 to identify studies that measured GFAP levels in people with MS (PwMS) and people with NMOSD (PwNMOSD). R software version 4.3.3. with the random-effect model was used to pool the effect size with its 95% confidence interval (CI). Of 4109 studies, 49 studies met our inclusion criteria encompassing 3491 PwMS, 849 PwNMOSD, and 1046 healthy controls (HCs). The analyses indicated that the cerebrospinal fluid level of GFAP (cGFAP) and serum level of GFAP (sGFAP) were significantly higher in PwMS than HCs (SMD = 0.7, 95% CI: 0.54 to 0.86, p < 0.001, I2 = 29%, and SMD = 0.54, 95% CI: 0.1 to 0.99, p = 0.02, I2 = 90%, respectively). The sGFAP was significantly higher in PwNMOSD than in HCs (SMD = 0.9, 95% CI: 0.73 to 1.07, p < 0.001, I2 = 10%). Among PwMS, the Expanded Disability Status Scale (EDSS) exhibited significant correlations with cGFAP (r = 0.43, 95% CI: 0.26 to 0.59, p < 0.001, I2 = 91%) and sGFAP (r = 0.36, 95% CI: 0.23 to 0.49, p < 0.001, I2 = 78%). Regarding that GFAP is increased in MS and NMOSD and has correlations with disease features, it can be a potential biomarker in MS and NMOSD and indicate the disease progression and disability in these disorders
RAPD PCR genotyping of Enterococcus faecium isolated from urinary tract infection and correlation between biofilm formation with antibiotic resistance and virulence genes
No full textPurpose: To examine the occurrence of virulence factors in Enterococcus faecium strains isolated from urinary tract infections (UTIs) and perform genotyping of the isolated strains using RAPD-PCR. Method: A total of seventy-five (75) E. faecium strains isolated from UTIs underwent molecular and biochemical testing for verification. Sensitivity testing and identification of virulence factors were conducted using antimicrobial tests. Results: Enterococcus faecium was detected in 53.57 % (75 out of 140) of urine samples in individuals suspected of having urinary tract infections. Additionally, all isolated strains demonstrated the ability to produce biofilm, with biofilm reactions observed in every E. faecium isolate. The strains exhibited either a strong (80 %), moderate (13.33 %) or weak (6.67 %) biofilm reaction. The highest antibiotic resistance in E. fascium isolates was related to penicillin and cotrimoxazole (83.33 and 80 %, respectively) while the lowest resistance was related to nitrofurantoin (26.67 %). The ebp C and ebp B were reported at 93.33 and 92 %, respectively, for E. faecium. The prevalence of ccf, cpd, cob and ebpA in E. fascium isolates was reported at 6.66, 13.33, 6.66, and 86.66 %, respectively. The RAPD-PCR analysis revealed the presence of 20 distinct molecular clusters, determined based on a similarity threshold of over 80 %. Conclusion: This study demonstrates the spread of multidrug-resistant E. faecium strains isolated from urinary tract infections (UTI). Being a quick and cost-effective method, RAPD typing has been used to show clonal relatedness and to trace possible sources of organisms for epidemiological purposes
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No full textDeregulation of miR‐1245b‐5p and miR‐92a‐3p and their potential target gene, GATA3, in epithelial–mesenchymal transition pathway in breast cancer
No full textBackground: MicroRNAs (miRNAs) are small molecules that have prominent roles in tumor development and metastasis and can be used for diagnostic and therapeutic purposes. This study evaluated the expression of miR-92a-3p and miR-1245b-5p and their potential target gene, GATA3 in patients with breast cancer (BC). Materials and Methods: In the search for BC-related microRNAs, miR-124b-5p and miR-92a-3p were selected using Medline through PubMed, miR2disease, miRcancer and miRTarBase. Moreover, target gene GATA3 and their possible interaction in the regulating epithelial-mesenchymal transition (EMT) and invasion was evaluated using in silico tools including miRTarBase, TargetScan, STRING-db, and Cytoscape. The expression level of miR-92a-3p, miR1245b-5p, and GATA3 were assessed on extracted RNAs of tumor and nontumor tissues from 36 patients with BC using qPCR. Additionally, clinical-pathologic characteristics, such as tumor grade, tumor stage, lymph node were taken into consideration and the diagnostic power of these miRNAs and GATA3 was evaluated using the ROC curve analysis. Results: In silico evaluation of miR-92a-3p and miR-1245b-5p supports their potential association with EMT and invasion signaling pathways in BC pathogenesis. Comparing tumor tissues to nontumor tissues, we found a significant downregulation of miR-1245b-5p and miR-92a-3p and upregulation of GATA3. Patients with BC who had decreased miR-92a-3p expression also had higher rates of advanced stage/grade and ER expression, whereas decreased miR-1245b-5p expression was only linked to ER expression and was not associated with lymph node metastasis. The AUC of miR-1245b-5p, miR-92a-3p, and GATA3 using ROC curve was determined 0.6449 (p =.0239), 0.5980 (p =.1526), and 0.7415 (p <.0001), respectively, which showed a significant diagnostic accuracy of miR-1245b-5p and GATA3 between the BC patients and healthy individuals. Conclusion: MiR-1245b-5p, miR-92a-3p, and GATA3 gene contribute to BC pathogenesis and they may be having potential regulatory roles in signaling pathways involved in invasion and EMT pathways in BC pathogenesis, as a result of these findings. More research is needed to determine the regulatory mechanisms that they control
Duplication of the umbilical vein along with an extrahepatic, intrathoracic right umbilical vein in the setting of Taussig-Bing anomaly with atrioventricular septal defect
No full textThe incidence of persistent right umbilical vein (PRUV) is approximately 2 per 1000 pregnancies, with cases utilizing extrahepatic and intrathoracic routes to connect to the superior vena cava (SVC) being notably rarer. The case in question involved an 18-week fetus presenting with concurrent cardiac anomalies: D-transposition of the great arteries (TGA) classified as Taussig-Bing anomaly and atrioventricular septal defect (AVSD), highlighting the uniqueness of the presentation. A second-trimester ultrasound, including echocardiographic assessment, identified Taussig-Bing anomaly, AVSD, pulmonary stenosis (PS), and a right-sided stomach position with a left-sided umbilical vein exhibiting a PRUV with an anomalous trajectory towards the SVC. These findings indicate a rare association of multiple congenital malformations. The right-sided stomach raised concerns for potential cardiosplenic syndromes, such as heterotaxy. Additionally, two vessels observed posterior to the heart in the four-chamber view raised suspicion for inferior vena cava (IVC) interruption, possibly suggesting an azygos vein formation. However, a thorough assessment of the IVC confirmed normal anatomy, with the posterior vessel identified as the PRUV
The native Iranian soil bacteria with high potential to produce extracellular methionine gamma-lyase
No full textThis study aimed to screen native methionine gamma-lyase (L-methioninase) producing bacteria from soil samples and optimize the culture media for enhanced enzyme production using statistical design. Three bacteria, Pseudomonas mosselii, Ralstonia solanacearum, and Cytobacillus kochii, were identified as novel L-methioninase producers, which alternative source of L-methioninase for cancer treatment could be utilized alongside other therapeutic agents. The bacteria were isolated from various garden soils and cultured on a modified M9 medium and screened by Nessler reagent. According to Bergey’s manual of systematic bacteriology, identification tests determined the morphological, physiological, and biochemical characterizations. Further identification was performed using the analysis of the 16 s rDNA gene sequences using PCR and universal bacterial primers. The optimization of medium constituents for L-methioninase production was performed in two steps using Response Surface Methodology (RSM). The first step used the “one factor at a time” method to screen and identify critical medium components for L-methioninase production. The second step used the Box–Behnken design to assess quadratic effects and two-way interactions between variables and determine the response’s nonlinear nature. The study found that three isolates produced L-methioninase, namely Pseudomonas mosselii spp.MN02 (GenBank PP431975), Ralstonia solanacearum spp.MN02 (GenBank PP431636), and Cytobacillus kochii spp.MN02 (GenBank PP432622). Among these, Pseudomonas mosselii spp.MN02 produced the highest amount of L-methioninase and was therefore chosen for enzyme production optimization process. The maximum L-methioninase production of 1.5 ± 0.1 U/mL was obtained at a pH 6, and the best nitrogen source was yeast extract (1% concentration). The influence of different carbon sources revealed that glucose was the best carbon source for L-methioninase production (3.25 ± 0.1 U/mL). The optimization experiments using the Box–Behnken design predicted that L-methioninase would have an activity of 12.56 U/mL under optimal conditions, including 2% glucose, 2% yeast extract, pH 6, and temperature at 30°C. In conclusion, this study presents a promising new methods for identifying potential L-methioninase producers and optimizing the culture medium for more enzyme production by microbial fermentation. This could pave the way for developing a drug that assists in human cancers treatment
Genetic Variants Impacting Angiogenesis Signaling Pathways in Glioblastoma Multiforme: A Systematic Review of Mutations and Polymorphisms
No full textBackground: Several signaling pathways are involved in the process of angiogenesis, which is one of the most important hallmarks of glioblastoma multiforme (GBM). Identifying related gene variants can help researchers work out what causes anti-angiogenesis drug resistance. Objective: The goal of this systematic analysis was to identify all mutations and polymorphisms involved in angiogenesis pathways in GBM and their impact on clinical outcomes. Methods: The keywords include glioblastoma, angiogenesis, signaling pathway, mutation, polymorphism, and related terms used to search ISI, PubMed, and Scopus for relevant articles published up to January 2022. The PRISMA protocol was used to conduct our systematic review. The related articles were taken into consideration. The risk of bias in the associated articles was surveyed, as well as the article scoring. Two authors collaborated on data extraction. Results: The inclusion criteria were included in 32 articles out of a total of 787 articles. VEGF, HIF1a, EGFR, PI3K, and MAPK are the pathways that have been studied the most. IDH1, VEGF, VEGFR, EGFR, and HIF1a are the genes with the highest frequency of mutations or polymorphisms. Conclusion: In conclusion, this study found that angiogenesis in primary or recurrent GBM is linked to gene changes in eleven signaling pathways. However, some of these gene mutations have been researched numerous times in relation to angiogenesis, while others have only been studied once. Understanding these changes will help us employ combination therapies more effectively for GBM patients' survival and personal medicine
Home-based telerehabilitation in multiple sclerosis: a scoping review
No full textBackground: Introducing home-based telerehabilitation (TR) approaches helps clinical experts to choose appropriate and effective interventions and researchers identify knowledge gaps to design clinical trial studies and systematic reviews. Purpose: This study aimed to review the knowledge of home-based TR in multiple sclerosis. Method: This scoping review study was conducted based on Arksey and O'Malley's five-step approach. The Embase, PubMed, Cochrane, Web of Sciences, Scopus and ProQuest databases were searched in 2017-2024 to find full-text English-language articles. Findings: In 25 studies reviewed, various and extensive home-based interventions have been used in physical and cognitive aspects. Conclusion: Home-based rehabilitation is applicable, useful, safe and affordable, maintains the continuity of the rehabilitation process and increases patients' adherence to the rehabilitation programme. However, there are challenges such as patients' lack of familiarity with technology and limitations of outcome measurement tools that should be addressed in future studies