Advanced Biomedical Research最新文献

{"title":"Evaluation of IP3R3 Gene Silencing Effect on Pyruvate Dehydrogenase (PDH) Enzyme Activity in Breast Cancer Cells with and Without Estrogen Receptor","authors":"G. Vaseghi, L. Shariati, Majed Bahri Najafi, Zahra Malakootikhah, H. N. Esfahani, Shaghayegh Haghjooy Javanmard","doi":"10.4103/abr.abr_413_22","DOIUrl":"https://doi.org/10.4103/abr.abr_413_22","url":null,"abstract":"\u0000 \u0000 Inositol 1,4,5-trisphosphate receptor (IP3R), a critical calcium ion (Ca2+) regulator, plays a vital role in breast cancer (BC) metabolism. Dysregulated IP3R in BC cells can drive abnormal growth or cell death. Estradiol increases IP3R type 3 (IP3R3) levels in BC, promoting cell proliferation and metabolic changes, including enhanced pyruvate dehydrogenase (PDH) activity, which, when reduced, leads to cell apoptosis. The study silenced IP3R3 to assess its impact on PDH.\u0000 \u0000 \u0000 \u0000 The study used IP3R3 small interfering RNA (siRNA) to target Michigan Cancer Foundation-7 (MCF-7) and MDA-MB-231 cell lines. Transfection success was confirmed by flow cytometry. Cell viability and gene silencing were evaluated using 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide (MTT) and real-time quantitative polymerase chain reaction (PCR) assays. Protein expression and cellular activity were analyzed through western blotting and PDH activity measurement.\u0000 \u0000 \u0000 \u0000 Transfecting MCF-7 and MDA-MB-231 cells with IP3R3 siRNA achieved a 65% transfection rate without significant toxicity. IP3R3 gene silencing effectively reduced IP3R3 messenger RNA (mRNA) and protein levels in both cell lines, leading to decreased PDH enzyme activity, especially in MDA-MB-231 cells.\u0000 \u0000 \u0000 \u0000 The study highlights a link between high IP3R3 gene silencing and reduced PDH activity, with higher IP3R3 expression in estrogen-independent (MDA-MB-231) compared to estrogen-dependent (MCF-7) cell lines. This suggests a potential impact on BC metabolism and tumor growth via regulation of PDH activity.\u0000","PeriodicalId":7225,"journal":{"name":"Advanced Biomedical Research","volume":"78 9","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140405869","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effect of Silybum Marianum on Reduction of Chemotherapy-Induced Peripheral Neurotoxicity with Cisplatin","authors":"Ali Haji Gholami, Hourieh Ansari, Adeleh Dadkhah","doi":"10.4103/abr.abr_365_21","DOIUrl":"https://doi.org/10.4103/abr.abr_365_21","url":null,"abstract":"\u0000 \u0000 Chemotherapy-induced peripheral neurotoxicity (CIPN) is one of the major complications of chemotherapy regimens commonly used in the treatment of solid and hematologic cancers. Given the high incidence of CIPN in antitumor therapies in patients and limited studies on antioxidants, this study was aimed to investigate the effect of Silybum marianum (SM) on cisplatin-induced peripheral neuropathy.\u0000 \u0000 \u0000 \u0000 This double-blind randomized clinical trial study was performed on 60 cancer patients treated with cisplatin chemotherapy at Seyyed-o-Shohada Hospital of Isfahan during 2019–2020. The patients were divided into two parallel groups as intervention (treated by SM) and placebo, and DN4 (Douleur neuropathique 4 questions) and CIPNAT (chemotherapy-induced peripheral neuropathy assessment tool) were completed for patients in the before and after intervention groups and compared between the two groups.\u0000 \u0000 \u0000 \u0000 The mean of DN4 score in the before and after study in the intervention group was in 1.76 ± 1.24 and 2.07 ± 2.03, respectively (P = 0.38), and in the control group was 1.41 ± 1.28 ± 3.11 ± 2.86, respectively (P = 0.012). The mean CIPNAT score in the intervention groups was 5.93 ± 3.65 and 4.20 ± 3.23 (P = 0.01), and in the control group was 4.20 ± 4.22 and 4.16 ± 4.03 (P = 0.39).\u0000 \u0000 \u0000 \u0000 Based on our data, SM is an effective agent in reducing peripheral neuropathy. The use of SM was associated with decreased scores of peripheral neuropathy and was helpful in patients undergoing chemotherapy with cisplatin.\u0000","PeriodicalId":7225,"journal":{"name":"Advanced Biomedical Research","volume":"93 8","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140405607","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diagnostic Value of Dermoscopic Structures in Predicting Superficial Basal Cell Carcinoma in the Skin of Color","authors":"Maryam Khalili, Sare Mirahmadi, Simin Shamsimeymandi, S. Dabiri, Rezvan Amiri, M. R. Z. Rukerd, Mahin Aflatoonian","doi":"10.4103/abr.abr_315_23","DOIUrl":"https://doi.org/10.4103/abr.abr_315_23","url":null,"abstract":"\u0000 \u0000 Basal cell carcinoma (BCC) manifests different dermoscopic patterns in individuals with dark skin complexion compared to those with fair skin types. This study aimed to investigate the diagnostic utility of dermoscopy in discerning superficial BCC from other types of BCC, specifically in patients with dark skin complexion.\u0000 \u0000 \u0000 \u0000 This cross-sectional study focuses on patients diagnosed with BCC who were referred for skin biopsy between July 2020 and September 2022. Initially, the demographic characteristics of patients, clinical attributes of lesions, and pathological sub-types of BCC were documented. Subsequently, videodermoscopy was employed to capture comprehensive views and dermoscopic images of the lesions. Univariate logistic regression analysis was then utilized to assess the reliability of dermoscopic structures in distinguishing superficial BCC from other BCC types. Last, the study evaluated the sensitivity, specificity, positive predictive value, and negative predictive value of dermoscopy in the differentiation of superficial BCC from other BCC sub-types.\u0000 \u0000 \u0000 \u0000 The study enrolled 49 patients diagnosed with BCC, with a mean age of 66.22 ± 10.41 years. The most prevalent pathological sub-type observed was nodular (53.1%). Dermoscopy exhibited a higher specificity compared to the naked eye in the differentiation of superficial BCC from other types (55% vs. 35%, respectively). Univariate analysis revealed a significant association between spoke-wheel structures and superficial BCC (P = 0.02, odds ratio = 7.2, 95% confidence interval = 1.35–38.32).\u0000 \u0000 \u0000 \u0000 Dermoscopy exhibited superior specificity compared to the naked eye in differentiating superficial BCC from other BCC types. Notably, the spoke-wheel structure demonstrated the most robust correlation with superficial BCC.\u0000","PeriodicalId":7225,"journal":{"name":"Advanced Biomedical Research","volume":"35 S3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140407658","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cytotoxic Sulfoquinovosyl Glycerols from the Seaweed Sargassum Angustifolium from Persian Gulf","authors":"S. Sajjadi, Sahar Ghobeishavi, A. Yegdaneh","doi":"10.4103/abr.abr_103_23","DOIUrl":"https://doi.org/10.4103/abr.abr_103_23","url":null,"abstract":"\u0000 \u0000 Seaweeds are an important source of marine organisms that produce a lot of bioactive compounds.\u0000 \u0000 \u0000 \u0000 In this research, the seaweed Sargassum angustifolium was collected from Bushehr province of Persian Gulf of Iran. The seaweed was extracted by methanol:ethyl acetate (1:1) using maceration method. The compounds were isolated with different column chromatography and HPLC(High Performance Liquid Chromatography) by silica gel and hexane:ethyl acetate as mobile phase.\u0000 \u0000 \u0000 \u0000 The isolated compounds were elucidated structurally by various 1 and 2 D-NMR and MS spectra. Besides the cytotoxicity test was done against HeLa using standard MTT assay and normal cells.\u0000 \u0000 \u0000 \u0000 It afforded four known sulfoquinovosyl diacylglycerides and fucosterol. Compounds 1-5 showed cytotoxic effects against HeLa and HUVEC cell lines, with IC50 values of 12.2 ± 2.3, 25.8 ± 3.7, 14.9 ± 2.6, 9.8 ± 1.2 μM, and 5.6 ± 1.2, respectively.\u0000","PeriodicalId":7225,"journal":{"name":"Advanced Biomedical Research","volume":"60 8","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140399925","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Best Surgical Treatment for Cervical Radiculopathy: A Systematic Review and Network Meta-Analysis.","authors":"Afshin Almasi, Samira Jafari, Leila Solouki, Niloofar Darvishi","doi":"10.4103/abr.abr_251_22","DOIUrl":"10.4103/abr.abr_251_22","url":null,"abstract":"<p><p>A case with an inflamed or damaged nerve root in the cervical spine is defined as cervical radiculopathy.The purpose of the current study is to recognize the most effective surgical procedures in cervical radiculopathy subjects. All related studies were taken using PubMed searching international databases, Scopus, ISI Web of Science (WoS), and Science direct with no limit of until November 20^th, 2021. Finally, based on the inclusion and exclusion criteria, after reviewing all randomized controlled trial studies which had the related data the researchers were looking for, they conducted meta-analysis with the seven remaining studies including eight different treatments. Heterogeneity was evaluated by Cochran's Q and Higgins I² using R software for the network. In the results presented in this study, the neck disability index (NDI) changes as a result of taking cervical anterior discectomy without (ACD) and with fusion (ACDF) and ACD arthroplasty were -0.003, -1.659, and -1.656, respectively. According to the final diagram of the network, 11 comparisons were made in pairs. When each treatment group is compared with ACDF, it is shown that there was a significant mean effect among the patients who receive Mobi-C, Kineflx|C, and ADR, with mean differences of - 8.60 [CI 95% (- 12.75, - 4.45)], - 1.10 [CI 95% (- 5.22, 3.02)], and - 1.00 [CI 95% (- 7.18, 5.18)], respectively. The most effective surgical treatments for cervical radiculopathy were Mobi-c, Kineflx|C, and artificial disc replacement compared to ACDF treatment, respectively.</p>","PeriodicalId":7225,"journal":{"name":"Advanced Biomedical Research","volume":"12 ","pages":"191"},"PeriodicalIF":0.0,"publicationDate":"2023-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/13/04/ABR-12-191.PMC10492624.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10589168","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association between the Treatment of Rosacea and Eradication of <i>Helicobacter Pylori</i> Infection.","authors":"Maryam Aghaei, Shahrzad Aghaei, Fatemeh Behshadnia, Mohsen Ghomashlooyan, Armin Khaghani, Elahe H Baradaran, Farahnaz F Naeini, Fariba Iraji, Zabihollah Shahmoradi, Sayed M Hosseini, Seyed H Hejazi","doi":"10.4103/abr.abr_236_22","DOIUrl":"10.4103/abr.abr_236_22","url":null,"abstract":"<p><strong>Background: </strong>Rosacea is a multifactorial skin inflammatory disorder with an unknown cure. Genetics and environmental factors such as microorganisms are involved in the rosacea etiology, for example, <i>Helicobacter pylori</i> have been suggested in rosacea progression. The present study investigated the relationship between <i>H. pylori</i> eradication and rosacea patient's improvement.</p><p><strong>Materials and methods: </strong><i>H. pylori</i> infection was investigated in 60 rosacea patients and 65 sex- and age-matched healthy control through enzyme-linked immunosorbent assay (ELISA) and HpSag tests. After infection confirmation, randomly half of the rosacea patients were treated for <i>H. pylori</i> eradication (test), and others received standard treatment (control). HpSag and ELISA tests were repeated after infection eradication and disease flow was surveyed for 60 days. The groups were compared using the ANOVA (Analysis Of Variance) test at the significant level of <i>P</i> < 0.05.</p><p><strong>Results: </strong>At the baseline, the mean of immunoglobulin G (IgG) (59.27 ± 41.4 RU/mL) and immunoglobulin M (IgM) (11.55 ± 6.1 RU/mL) in rosacea patients was higher than the level of IgG (41.38 ± 54.33 RU/mL) and IgM (8.11 ± 8.91 RU/mL) in healthy control (<i>P</i> < 0.04) and (<i>P</i> < 0.01), respectively. Also, the values for <i>H. pylori</i> infection were positive in all patients and 10 healthy controls. The mean titer of IgM and IgG in the test and control patients groups were different at baseline and after treatment. Furthermore, in the test patients group, the mean of IgG was reduced in active rosacea after treatment, and 63.9% of active patients showed rosacea remission after <i>H. pylori</i> eradication.</p><p><strong>Conclusion: </strong>Data suggest the exacerbating role of <i>H. pylori</i> in rosacea, and its eradication along with other therapeutic methods causes rosacea improvement.</p>","PeriodicalId":7225,"journal":{"name":"Advanced Biomedical Research","volume":"12 ","pages":"173"},"PeriodicalIF":0.0,"publicationDate":"2023-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/7d/ee/ABR-12-173.PMC10410436.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9976179","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparison of High Uterosacral and Sacrospinous Ligament Suspension Surgeries for the Treatment of Pelvic Organ Prolapse in Women.","authors":"Maryam Hajhashemi, Aazam Zafarbakhsh, Minoo Movahedi, Aryan Rafieezadeh, Behnaz Sattari Rizi","doi":"10.4103/abr.abr_168_22","DOIUrl":"10.4103/abr.abr_168_22","url":null,"abstract":"<p><strong>Background: </strong>Pelvic floor disorders include urinary incontinence, fecal incontinence, and pelvic floor prolapse, which are common complaints in women. Patients that suffer from uterine prolapse could benefit from surgical procedures that stabilize pelvic ligaments. Here, we aimed to compare the high uterosacral and sacrospinous ligament suspension surgeries.</p><p><strong>Materials and methods: </strong>This clinical trial was performed in 2019-2021 on 64 women with uterine prolapse. Demographic data of the patients, including age, body mass index (BMI), past medical diseases, history of delivery, type of delivery, and duration of hospitalization, were collected. We assessed their urinary symptoms, prolapse degree, and sexual symptoms using the Female Sexual Function Index (FSFI) and Pelvic Floor Disability Index (PFDI-20) questionnaires before surgical interventions. Patients were divided into two groups undergoing high uterosacral and sacrospinous ligament suspension. They were followed up 6 and 12 months after surgeries.</p><p><strong>Results: </strong>Patients treated with sacrospinous ligament suspension had higher frequencies of surgical complications (<i>P</i> = 0.039), and the most common complication was low back pain (15.6%). The uterine prolapse andC point degree improved significantly in all cases after 6 and 12 months (<i>P</i> < 0.001). The Pelvic Organ Prolapse Quantifications System (POP-Q) scores improved significantly in both groups 6 and 12 months after surgery (<i>P</i> < 0.001), and patients who underwent sacrospinous ligament suspension had significantly lower pain intensity compared to the other group (<i>P</i> = 0.003). FSFI scores improved significantly in patients treated in both groups (<i>P</i> < 0.001).</p><p><strong>Conclusion: </strong>Both high uterosacral and sacrospinous ligament suspension techniques significantly improved pain, uterine prolapse, and C point degree.</p>","PeriodicalId":7225,"journal":{"name":"Advanced Biomedical Research","volume":"12 ","pages":"164"},"PeriodicalIF":0.0,"publicationDate":"2023-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/bc/aa/ABR-12-164.PMC10410424.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10033077","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Remdesivir Prescription in Pregnant Women Infected with COVID-19: A Report of Compassionate Use.","authors":"Azam Zafarbakhsh, Atefeh Vaezi, Shaghayegh Haghjooy Javanmard, Fahimeh Sabet, Maryam Dehghan","doi":"10.4103/abr.abr_142_22","DOIUrl":"10.4103/abr.abr_142_22","url":null,"abstract":"<p><strong>Background: </strong>Coronavirus disease 2019 (COVID-19) is an infectious disease that the physiological changes in pregnancy can make pregnant patients more susceptible to more severe forms of this infection. Hence, the treatment of COVID-19 in pregnant women can be challenging. This study was designed to evaluate the safety and efficacy of Remdesivir in pregnant women with COVID-19.</p><p><strong>Materials and methods: </strong>This study was conducted on 150 pregnant women with moderate to severe COVID-19 infection. Remdesivir was prescribed and continued for 5 or 10 days according to the patient's condition. Maternal and pregnancy outcomes and also recovery rates were evaluated. Moreover, additional variables were examined: age, gestational age, symptoms, O2 saturation and laboratory tests at admission, the interval between symptom initiation and admission to hospital and Remdesivir prescription, hospitalization days, and ICU admission.</p><p><strong>Results: </strong>The mean age was 32.37 years. Cough and dyspnea were the most prevalent symptoms (74% and 68.7%, respectively). At the time of admission, 79 (52.7%) women needed low-flow oxygen support, 67 (44.7%) needed high-flow oxygen support, and 4 (2.7%) were intubated. Fifty-four (36%) patients required ICU care. In patients who died (12 women), Remdesivir was prescribed later than those discharged (<i>P</i> value, 0.04). Patients with favorable pregnancy outcomes received Remdesivir earlier than those with unfavorable pregnancy outcomes (<i>P</i> value: 0.008). The recovery rate was 70% (89.9% in the low-flow oxygen, 50.7% in the NIPPV/high flow oxygen, and 0% in the intubated women).</p><p><strong>Conclusion: </strong>The results suggest that the early prescription of Remdesivir in pregnant women with moderate COVID-19 can improve the outcomes.</p>","PeriodicalId":7225,"journal":{"name":"Advanced Biomedical Research","volume":"12 ","pages":"163"},"PeriodicalIF":0.0,"publicationDate":"2023-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/54/00/ABR-12-163.PMC10410426.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9978967","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assessment of Hip Range of Motion Limitations in Cases with Low Back Pain Based on the Classified Movement System Impairment.","authors":"Farzaneh Khayam Nekoie, Hosein Kouhzad Mohammadi, Alireza Afshari-Safavi, Hossein Mahdidust Jalali, Navid Taheri","doi":"10.4103/abr.abr_337_22","DOIUrl":"10.4103/abr.abr_337_22","url":null,"abstract":"<p><strong>Background: </strong>The hip joint's limitation causes lumbopelvic compensatory motions, accumulating tissue stress on the lumbar spines. It is essential and valuable to evaluate hip rotation range of motion (ROM) in different low back pain (LBP) classifications to understand them and plan the best exercise program. This study aimed to compare hip rotation ROM between subjects with and without LBP classified in movement system impairment (MSI).</p><p><strong>Materials and methods: </strong>In this cross-sectional study, 100 subjects with LBP were classified into different MSI subgroups (mean age of 41.66 ± 7.82 years), and 100 healthy subjects (mean age of 38.96 ± 8.84 years) participated. Passive and active hip medial and lateral rotations ROM in prone and supine positions for dominant and non-dominant lower limbs were measured.</p><p><strong>Results: </strong>Generally, in the LBP group, minimal lateral rotation as compared to controls in movement tests measuring hip rotation ROM actively and passively, in prone and sitting positions, and for dominant and non-dominant limbs (<i>P</i> < 0.05). There were no significant differences among the LBP subgroups (<i>P</i> > 0.05).</p><p><strong>Conclusions: </strong>Due to LBP, regardless of the MSI categories, remarkably restricted hip lateral rotation ROM.</p>","PeriodicalId":7225,"journal":{"name":"Advanced Biomedical Research","volume":"12 ","pages":"169"},"PeriodicalIF":0.0,"publicationDate":"2023-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/98/a6/ABR-12-169.PMC10410431.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10033074","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Polymorphisms in Maternal Selected Folate Metabolism-Related Genes in Neural Tube Defect-Affected Pregnancy.","authors":"Winner K Dewelle, Daniel S Melka, Abenezer T Aklilu, Mahlet Y Gebremariam, Markos A Alemayehu, Dawit H Alemayehu, Tamrayehu S Woldemichael, Solomon G Gebre","doi":"10.4103/abr.abr_103_22","DOIUrl":"10.4103/abr.abr_103_22","url":null,"abstract":"<p><strong>Background: </strong>Neural tube defects (NTDs) are abnormalities of the brain and spinal cord, which occur as a result of failure in neural tube closure during embryogenesis. Causes of NTDs are complex and multiple, with hereditary, lifestyle, and environmental factors appearing to play a role. In spite of their impact on public health, the role genetics play on NTDs in Ethiopia is lacking. In this study, the role of polymorphisms in MTHFR 677C > T (rs1801133), MTHFR 1298A > C (rs1801131), MTRR 66A > G (rs1801394), RFC1 80A > G (rs1051266), and TCN2 776C > G (rs1801198) on the risk of having NTD-affected pregnancy was investigated.</p><p><strong>Materials and methods: </strong>One hundred women with NTD-affected pregnancy and 100 women with normal pregnancy were included in the study. DNA was extracted from saliva and genotyping for five polymorphisms in four genes was analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The departure of the genotype's distribution from Hardy-Weinberg equilibrium (HWE) was evaluated using the x² goodness-of-fit test. Frequencies of genotypes and alleles in case and control mothers were determined and differences between relative frequencies were evaluated by the x² or the Fisher's exact test.</p><p><strong>Results: </strong>The statistically significant difference was absent in the genotype and allele frequencies for all the analyzed polymorphisms between cases and controls (<i>P</i> > 0.05).</p><p><strong>Conclusion: </strong>MTHFR 677C > T, MTHFR 1298A > C, MTRR 66A > G, RFC1 80A > G, and TCN2 776C > G polymorphisms lack association with the risk of having a pregnancy affected by NTD. The role of other genes or environmental factors in NTD etiology needs to be investigated.</p>","PeriodicalId":7225,"journal":{"name":"Advanced Biomedical Research","volume":"12 ","pages":"160"},"PeriodicalIF":0.0,"publicationDate":"2023-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/10/94/ABR-12-160.PMC10410419.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9981630","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}