Saudi Medical Journal最新文献_第2页

Cochlear implantation: Listening environments among pediatric recipients. 人工耳蜗植入：儿童受者的聆听环境。

IF 1.7 4区医学

Saudi Medical Journal Pub Date : 2025-07-01 DOI: 10.15537/smj.2025.46.7.20250137

Noura I Alothman, Sarah S Alarifi, Fida A Almuhawas, Ghada S Alamri, Reem M Alshehri, Norah J Alharbi, Khuloud S Alqaysi, Noura M Almtairi, Yassin Abdelsamad

{"title":"Cochlear implantation: Listening environments among pediatric recipients.","authors":"Noura I Alothman, Sarah S Alarifi, Fida A Almuhawas, Ghada S Alamri, Reem M Alshehri, Norah J Alharbi, Khuloud S Alqaysi, Noura M Almtairi, Yassin Abdelsamad","doi":"10.15537/smj.2025.46.7.20250137","DOIUrl":"10.15537/smj.2025.46.7.20250137","url":null,"abstract":"Objectives: To examine auditory environments and challenges faced by pediatric cochlear implant (CI) users in Saudi Arabia by comparing auditory settings and device usage between preschoolers and school-age children.Methods: A retrospective analysis was conducted on prelingually deafened children under 18 years of age using SONNET2/RONDO3 MED-EL CI. Children were categorized based on Saudi Arabia's primary school enrollment age. Datalogging metrics from 2020-2022 on device usage and auditory scene exposure were analyzed using R Software, with descriptive statistics and regression models exploring relationships between demographic factors and data logging metrics.Results: A total of 178 ears met inclusion criteria, with a median age of 5.8 years and a median implantation age of 2.0 years. Median daily CI use was 10.1 hours, with preschoolers using their devices for 7.9 hours and school-age children for 11.6 hours. Predominant auditory exposure was to \"speech-in-noise\" (49%) and \"noise\" (37%). Significant correlations were found between age, implantation age, and various datalogging metrics.Conclusion: Pediatric CI users in Saudi Arabia showed increased daily CI use with age, primarily in noisy environments, highlighting the need for acoustically optimized settings to support speech perception. Chronological age was a key determinant of CI usage and auditory exposure, emphasizing its role in tailoring interventions to improve outcomes for children with CI.","PeriodicalId":21453,"journal":{"name":"Saudi Medical Journal","volume":"46 7","pages":"797-805"},"PeriodicalIF":1.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12251552/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144592115","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Can enzymes from fungi be used to extract plant components for biofuels and bioplastics? 真菌中的酶可以用来提取生物燃料和生物塑料的植物成分吗？

IF 1.7 4区医学

Saudi Medical Journal Pub Date : 2025-07-01

引用次数: 0

Prevalence and determinants of hearing loss in systemic lupus erythematosus: A cross-sectional study in a tertiary care center in Saudi Arabia. 系统性红斑狼疮听力损失的患病率和决定因素：沙特阿拉伯三级保健中心的横断面研究。

IF 1.7 4区医学

Saudi Medical Journal Pub Date : 2025-07-01 DOI: 10.15537/smj.2025.46.7.20241075

Redha A Alrumaih, Amal A Alshaik, Manal A Hasan, Layan B Almulla, Sarah I Alsamin, Jood K Alotaibi, Batool A Alattas, Lojain M Maawadh

{"title":"Prevalence and determinants of hearing loss in systemic lupus erythematosus: A cross-sectional study in a tertiary care center in Saudi Arabia.","authors":"Redha A Alrumaih, Amal A Alshaik, Manal A Hasan, Layan B Almulla, Sarah I Alsamin, Jood K Alotaibi, Batool A Alattas, Lojain M Maawadh","doi":"10.15537/smj.2025.46.7.20241075","DOIUrl":"10.15537/smj.2025.46.7.20241075","url":null,"abstract":"Objectives: To determine the prevalence of hearing loss in patients with systemic lupus erythematosus (SLE) and identify predictive factors associated with its development.Methods: A cross-sectional study was conducted at the Rheumatology Clinic of King Fahad Hospital of the University, Al-Khobar, Saudi Arabia, between November 2023 and March 2024، involving patients diagnosed with SLE. Demographic data, clinical presentation, laboratory results, and medication history were collected. Pure-tone audiometry, speech audiometry, and tympanometry were used to assess hearing.Results: Fifty-three patients with SLE were included. The prevalence of hearing loss was 15%, with 87.5% of cases being sensorineural hearing loss (SNHL). Logistic regression analysis showed that age over 36 years (p=0.020), diabetes mellitus (p=0.039), positive antinuclear antibody (ANA) (p=0.039), cranial nerve disorder (p=0.009), pyuria (p=0.012), and use of hydroxychloroquine (HCQ) (p=0.007) were significantly associated with an increased risk of hearing loss.Conclusion: Hearing loss, particularly SNHL, was observed in SLE patients. Factors such as older age, diabetes mellitus, cranial nerve disorders, pyuria, positive ANA test results, and HCQ use may predict hearing loss. Regular audiological assessments are essential to mitigate this risk.","PeriodicalId":21453,"journal":{"name":"Saudi Medical Journal","volume":"46 7","pages":"788-796"},"PeriodicalIF":1.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12251524/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144592124","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Impact of Z-spring appliance and clear aligner therapy on oral microorganisms in children: A clinical trial. Z-spring矫治器和清除矫正器治疗对儿童口腔微生物的影响：一项临床试验。

IF 1.5 4区医学

Saudi Medical Journal Pub Date : 2025-07-01 DOI: 10.15537/smj.2025.46.7.20250264

İrem Kapicıi, Özge Erken Güngör, Kubra Yildirim, Cemilenur Atas, Ahmet Yilmaz Coban

{"title":"Impact of Z-spring appliance and clear aligner therapy on oral microorganisms in children: A clinical trial.","authors":"İrem Kapicıi, Özge Erken Güngör, Kubra Yildirim, Cemilenur Atas, Ahmet Yilmaz Coban","doi":"10.15537/smj.2025.46.7.20250264","DOIUrl":"10.15537/smj.2025.46.7.20250264","url":null,"abstract":"Objectives: To evaluate the effect of Z-spring appliance and clear aligners, used in anterior crossbite treatment, on dental plaque colonization in children.Methods: A 2-arm randomized controlled trial included 30 patients aged 7-12 years with anterior crossbite. Participants were divided into 2 groups: clear aligner (group A, n=15) and Z-spring appliance (group B, n=15). Dental plaque samples were collected at treatment initiation and completion, inoculated onto selective media, and analyzed for colony counts (cfu/ml) of Streptococcus mutans (S. mutans), Streptococcus mitis (S. mitis), Streptococcus salivarius (S. salivarius), and Candida albicans (C. albicans).Results: In group A, S. mutans counts significantly increased (p=0.006), while C. albicans counts decreased (p=0.039). In group B, S. mutans counts significantly decreased (p=0.002). No significant changes were observed in S. salivarius or S. mitis counts in either group.Conclusion: Short-term clear aligner use in children increases S. mutans colonization, suggesting a potential risk for dental caries with prolonged treatment. Early preventive measures are crucial to mitigate this risk and ensure better oral health outcomes.ClinicalTrials.gov Reg. No. ID: NCT06858033.","PeriodicalId":21453,"journal":{"name":"Saudi Medical Journal","volume":"46 7","pages":"825-830"},"PeriodicalIF":1.5,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12251523/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144592121","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Knowledge, attitudes, and perceptions of developmental dysplasia of the hip among pregnant women in Jordan. 约旦孕妇对髋关节发育不良的认识、态度和看法。

IF 1.7 4区医学

Saudi Medical Journal Pub Date : 2025-07-01 DOI: 10.15537/smj.2025.46.7.20241131

Khalaf A Alnowaishiri, Jehad E Khader, Waleed K Alkanderi, Sami M Alshiyab, Kamel A Jaber, Omar Q Samarah

{"title":"Knowledge, attitudes, and perceptions of developmental dysplasia of the hip among pregnant women in Jordan.","authors":"Khalaf A Alnowaishiri, Jehad E Khader, Waleed K Alkanderi, Sami M Alshiyab, Kamel A Jaber, Omar Q Samarah","doi":"10.15537/smj.2025.46.7.20241131","DOIUrl":"10.15537/smj.2025.46.7.20241131","url":null,"abstract":"Objectives: To assess the awareness of developmental dysplasia of the hip (DDH) among pregnant women in Jordan.Methods: A descriptive cross-sectional study was carried out among pregnant females, aged 18 years and above, who had visited 3 hospitals in Jordan. Data were collected through face-to-face interviews, and responses were recorded using a Google form by the researchers.Results: A total of 605 women completed the questionnaire. Most participants correctly reported DDH as the cause of ambulation problems (n=531, 87.6%), and approximately 60% reported it as painful. The majority agreed that DDH is diagnosed using x-ray imaging (80.5%), usually in the first 6 months of life (85.8%). In all, 37.3% of the participating women reported a family history of diagnosed DDH. Multivariate logistic regression analysis of participants' demographic and family variables demonstrated that those who possessed a college degree, those who had one or more children and those who had a diagnosis of DDH in the family were more aware of DDH than other participants (p=0.039, p=0.000, and p=0.025, respectively).Conclusion: There is an inconsistency between the level of awareness among the participants and the incidence of late-diagnosed DDH.","PeriodicalId":21453,"journal":{"name":"Saudi Medical Journal","volume":"46 7","pages":"831-835"},"PeriodicalIF":1.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12251593/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144592122","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Effectiveness of dupilumab in chronic rhinosinusitis with nasal polyps: A retrospective study of clinical and imaging outcomes. dupilumab治疗慢性鼻窦炎伴鼻息肉的有效性：临床和影像学结果的回顾性研究。

IF 1.7 4区医学

Saudi Medical Journal Pub Date : 2025-07-01 DOI: 10.15537/smj.2025.46.7.20241154

Mohammed A Alhejaily, Musallam Kashoob, Shatha Y AlGhamdi, Muhannad A Alomar, Yazeed A Alomar, Rawan S Alzayed, Amany M Altoies, Ahmad Alroqi

{"title":"Effectiveness of dupilumab in chronic rhinosinusitis with nasal polyps: A retrospective study of clinical and imaging outcomes.","authors":"Mohammed A Alhejaily, Musallam Kashoob, Shatha Y AlGhamdi, Muhannad A Alomar, Yazeed A Alomar, Rawan S Alzayed, Amany M Altoies, Ahmad Alroqi","doi":"10.15537/smj.2025.46.7.20241154","DOIUrl":"10.15537/smj.2025.46.7.20241154","url":null,"abstract":"Objectives: To evaluate dupilumab's outcomes in chronic rhinosinusitis with nasal polyps (CRSwNP) cases.Methods: A retrospective analysis was carried out at Dr. Sulaiman Al Habib Hospitals, Riyadh, Saudi Arabia on 145 adult CRSwNP patients treated with dupilumab between January 2020 and December 2023 following the European position paper on rhinosinusitis and nasal polyps 2020 guidelines. Primary outcomes included changes in Lund-Mackay computed tomography (CT) scores, immunoglobulin E levels, and visual analog scale (VAS) smell score over +12 months.Results: Significant improvements were noted post-treatment. Lund-Mackay CT scores decreased from 12.5 to 5.5 (p<0.001), and VAS smell scores dropped from 10.0 to 0.0 (p<0.001). Immunoglobulin E levels reduced from 250.5 to 63.5 (p<0.001). After treatment, 93.3% of patients avoided sinus surgery, 78.6% reported improved asthma status, and 60% used dupilumab as monotherapy.Conclusion: This study supports dupilumab's effectiveness in treating severe CRSwNP, showing significant improvements in CT imaging and overall medical condition over 12 months. Dupilumab reduced systemic corticosteroid use and rescue surgeries. While promising, further trials are needed to validate its use as monotherapy. Identifying those who gain most from biologic therapy is crucial.","PeriodicalId":21453,"journal":{"name":"Saudi Medical Journal","volume":"46 7","pages":"781-787"},"PeriodicalIF":1.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12251548/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144592118","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Effect of radial extracorporeal shockwave therapy combined with evidence-based physical therapy for adhesive capsulitis of the shoulder: A randomized controlled trial. 桡骨体外冲击波联合循证物理治疗肩关节粘连性囊炎的疗效：一项随机对照试验。

IF 1.5 4区医学

Saudi Medical Journal Pub Date : 2025-07-01 DOI: 10.15537/smj.2025.46.7.20250213

Turki M Sharahili, Hosam A Alzahrani

{"title":"Effect of radial extracorporeal shockwave therapy combined with evidence-based physical therapy for adhesive capsulitis of the shoulder: A randomized controlled trial.","authors":"Turki M Sharahili, Hosam A Alzahrani","doi":"10.15537/smj.2025.46.7.20250213","DOIUrl":"10.15537/smj.2025.46.7.20250213","url":null,"abstract":"Objectives: To evaluate the effect of radial extracorporeal shockwave therapy (rESWT) combined with evidence-based physical therapy (EBPT) on adhesive capsulitis (AC).Methods: A total of 30 participants with AC were randomly assigned to receive either rESWT combined with EBPT (experimental group) or sham rESWT combined with EBPT (control group) over a 6-week intervention period. The primary outcomes included pain (assessed using the visual analogue scale) and disability (disabilities of the arm, shoulder, and hand questionnaire). The secondary outcomes were shoulder range of motion (ROM), psychological distress (depression anxiety and stress scale-12), and health-related quality of life (HRQoL; short form-12). Assessments were carried out at baseline, post-intervention, and 12 weeks post-randomization.Results: Compared with the control group, the experimental group experienced better improvement in reduction of pain immediately post-intervention (-2.00, 95% confidence interval [CI]: [-3.43, -0.57]; p=0.008), at 12 weeks post-randomization (-3.33, 95% CI: [-4.71, -1.96]; p<0.001), and disability at 12 weeks post-randomization (-24.70, 95% CI: [-37.30, -12.10]; p<0.001). The experimental group showed better active ROM of the shoulder in flexion, abduction, and internal rotation at 12 weeks post-randomization, and better external rotation immediately post-intervention and at 12 weeks post-randomization. The experimental group achieved better passive ROM in abduction and external rotation immediately post-intervention and better flexion, abduction, external rotation, and HRQoL at 12 weeks post-randomization.Conclusion: The rESWT and EBPT combination therapy effectively decreased pain and disability and improved ROM and HRQoL in patients with AC.ClinicalTrials.gov Reg. No. ID: NCT05771220.","PeriodicalId":21453,"journal":{"name":"Saudi Medical Journal","volume":"46 7","pages":"816-824"},"PeriodicalIF":1.5,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12251555/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144592117","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Illuminating the role of VEGFA and EGFR in head and neck squamous cell carcinoma through the multi-omics data integration. 通过多组学数据整合阐明VEGFA和EGFR在头颈部鳞状细胞癌中的作用。

IF 1.5 4区医学

Saudi Medical Journal Pub Date : 2025-07-01 DOI: 10.15537/smj.2025.46.7.20240775

Alaa S Alhegaili, Mohammed Alissa, Abdullah Alghamdi

{"title":"Illuminating the role of VEGFA and EGFR in head and neck squamous cell carcinoma through the multi-omics data integration.","authors":"Alaa S Alhegaili, Mohammed Alissa, Abdullah Alghamdi","doi":"10.15537/smj.2025.46.7.20240775","DOIUrl":"10.15537/smj.2025.46.7.20240775","url":null,"abstract":"Objectives: To investigate the functions of 2 crucial wound-healing genes, vascular endothelial growth factor-A (VEGFA) and epidermal growth factor receptor (EGFR) in head and neck squamous cell carcinoma (HNSCC).Methods: This observational study, carried out between January and August 2024 in Saudi Arabia, involved 20 HNSCC and 10 normal oral cell lines sourced from The American type culture collection. Cell lines were cultured and gene expression was analyzed via RT-qPCR and Western blotting. Promoter methylation and mutational analyses were carried out using databases like UALCAN and cBioPortal. Functional assays, including cell proliferation, colony formation, and wound healing, were carried out to evaluate the effects of VEGFA and EGFR gene silencing using siRNA.Results: Expression analysis of 20 HNSCC cell lines showed significant upregulation of VEGFA and EGFR, confirming their potential as biomarkers. Receiver operating characteristic curve analysis further supported their discriminatory capabilities. Promoter methylation analysis revealed hypomethylation of both genes in HNSCC. Validation confirmed elevated mRNA and protein expression, especially in advanced stages. Mutational analysis indicated infrequent mutations. A prognostic model showed a correlation between higher VEGFA and EGFR expression and reduced overall survival. Knockdown experiments in human oral squamous carcinoma-3 cells reduced growth, and DrugBank identified Simvastatin as a potential therapeutic, with molecular docking showing strong interactions.Conclusion: This study highlights VEGFA and EGFR as diagnostic, prognostic, and therapeutic targets in HNSCC.","PeriodicalId":21453,"journal":{"name":"Saudi Medical Journal","volume":"46 7","pages":"768-780"},"PeriodicalIF":1.5,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12251573/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144592120","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Segmentation with artificial intelligence and automated calculation of the corpus callosum index in multiple sclerosis. 人工智能分割及多发性硬化症胼胝体指数自动计算。

IF 1.7 4区医学

Saudi Medical Journal Pub Date : 2025-06-01 DOI: 10.15537/smj.2025.46.6.20240957

Selahattin Demirbas, Kamil Karaali, Yalcın Albayrak, Nurdan Fidan

{"title":"Segmentation with artificial intelligence and automated calculation of the corpus callosum index in multiple sclerosis.","authors":"Selahattin Demirbas, Kamil Karaali, Yalcın Albayrak, Nurdan Fidan","doi":"10.15537/smj.2025.46.6.20240957","DOIUrl":"10.15537/smj.2025.46.6.20240957","url":null,"abstract":"Objectives: To determine the corpus callosum index (CCI) differences between chronic phase multiple sclerosis (MS) patients and healthy individuals and to evaluate the corpus callosum segmentation in MS patients using artificial intelligence technologies. The CCI can be reliably measured on magnetic resonance imaging (MRI) and has been proposed as a possible marker of brain atrophy in MS.Methods: In this study, 150 MS patients (disease duration 12.6±5.9 years) and 150 healthy control subjects were scanned. Corpus callosum index was manually measured from the mid-sagittal slices on MRI. A deep learning architecture-based U-Net model was used for automatic corpus callosum segmentation from 2D brain MRI.Results: The CCI score was calculated as mean 0.274 in the patient group and 0.382 in the control group (p=0.01). According to the ROC analysis, it was observed that the CCI measurement had a discrimination rate of 98.3% between groups with a cut-off value of 0.334. Sensitivity and specificity were calculated as 94%. The mean CCI calculated automatically after segmentation in the patient group was 0.286.Conclusion: Corpus callosum index is a method with high sensitivity and specificity in respect of determining corpus callosum atrophy in patients with MS in the chronic phase. Artificial intelligence technologies such as segmentation, machine learning, and deep learning to determine corpus callosum atrophy were seen to be successful in MS patients and the automatically calculated CCI score was successful in showing atrophy.","PeriodicalId":21453,"journal":{"name":"Saudi Medical Journal","volume":"46 6","pages":"638-648"},"PeriodicalIF":1.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12199653/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144294793","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Identification of genetic variants in patients with primary and secondary amenorrhea. 原发性和继发性闭经患者基因变异的鉴定。

IF 1.7 4区医学

Saudi Medical Journal Pub Date : 2025-06-01 DOI: 10.15537/smj.2025.46.6.20250205

Flora Bai, Renjini Nambiar, Chirayu Padhiar, Wilson Aruni, Chinnadurai Veeramani, Mohammed A Alsaif, Khalid S Al-Numair

{"title":"Identification of genetic variants in patients with primary and secondary amenorrhea.","authors":"Flora Bai, Renjini Nambiar, Chirayu Padhiar, Wilson Aruni, Chinnadurai Veeramani, Mohammed A Alsaif, Khalid S Al-Numair","doi":"10.15537/smj.2025.46.6.20250205","DOIUrl":"10.15537/smj.2025.46.6.20250205","url":null,"abstract":"Objectives: To identify the cytogenetic and molecular pattern abnormalities and early diagnose the cause of primary and secondary amenorrhea.Methods: A total of 320 patients in the age group of 14-35 years with clinically confirmed amenorrhea were screened using conventional cytogenetic methods. Patients with a normal karyotype, hypoplastic uterus, and no hormonal imbalance were extensively investigated using molecular cytogenetic platforms such as chromosomal microarrays and clinical exome sequencing (CES).Results: Of the 266 patients with primary amenorrhea and 54 with secondary amenorrhea, 66.9% and 88.9%, independently, had a normal karyotype. The 20 patients with a normal karyotype, hypoplastic uterus, and no hormonal imbalance were further evaluated for microdeletions of <5 megabases using chromosomal microarray. In 20 cases, 5 samples with no microdeletions were investigated for 150 target genes using CES. A pathogenic variant at chromosome X BMP15, c.661T>C, p.W221R, HET-XL-VUS was observed in one patient (reclassification).Conclusion: Cytogenetic evaluation of women with amenorrhea was performed in this study. One of the main etiological factors for primary amenorrhea is aberrant karyotypes. Identifying the underlying genetic cause may aid in devising effective treatment strategies. In addition, early diagnosis may enable treatment planning by the family before amenorrhea occurs.","PeriodicalId":21453,"journal":{"name":"Saudi Medical Journal","volume":"46 6","pages":"659-669"},"PeriodicalIF":1.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12199654/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144294874","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0