SAGE Open Medicine最新文献

{"title":"SNHG19 promotes the proliferation and metastasis of hepatocellular carcinoma through regulating the miR-137/protein tyrosine phosphatase 4A3 axis.","authors":"Yuting Ding, Wenkang Luan, Feng Lu, Zhe Wang, Xuanlin Shen","doi":"10.1177/20503121251334272","DOIUrl":"https://doi.org/10.1177/20503121251334272","url":null,"abstract":"<p><strong>Objectives: </strong>Long noncoding RNAs plays the important part in tumor biology. SNHG19 was found to be a new oncogenic lncRNA in some malignant tumors. However, the effect of SNHG19 in hepatocellular carcinoma has not been reported.</p><p><strong>Methods: </strong>The expression of SNHG19 in hepatocellular carcinoma tissues were detected by using quantitative Real-Time Reverse Transcription Polymerase Chain Reaction (qRT-PCR). Melanoma cases from The Cancer Genome Atlas were included in this study. cell counting kit-8 assay, Transwell, and scratch wound assay were used to explore the role of SNHG19 in melanoma cells. Luciferase reporter assays and RNA pull-down assay were used to explore the molecular mechanism of SNHG19 in hepatocellular carcinoma.</p><p><strong>Results: </strong>Here, we found that SNHG19 level was upregulated in hepatocellular carcinoma. Hepatocellular carcinoma patients with high levels of SNHG19 have shorter Disease-Free Survival (RFS). SNHG19 promotes the Protein Tyrosine Phosphatase 4A3 expression by sponging miR-137 to liberate Protein Tyrosine Phosphatase 4A3 mRNA transcripts. SNHG19 enhances the development of hepatocellular carcinoma by affecting miR-137/Protein Tyrosine Phosphatase 4A3 axis.</p><p><strong>Conclusion: </strong>These results demonstrated the effect of SNHG19 in the occurrence and progression of hepatocellular carcinoma. SNHG19 may be used as the specific molecular target in patients with hepatocellular carcinoma.</p>","PeriodicalId":21398,"journal":{"name":"SAGE Open Medicine","volume":"13 ","pages":"20503121251334272"},"PeriodicalIF":2.3,"publicationDate":"2025-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12035070/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144054287","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":"Prevalence of hearing loss in patients with dementia and its association with dementia severity.","authors":"Pradchaya Doungta, Pongsatorn Paholpak, Panida Thanawirattananit, Benjamas Prathanee, Patorn Piromchai","doi":"10.1177/20503121251333033","DOIUrl":"https://doi.org/10.1177/20503121251333033","url":null,"abstract":"<p><strong>Introduction: </strong>Dementia and hearing loss pose a substantial global health challenge, and understanding their association is crucial. This study aims to determine the prevalence of hearing loss in dementia patients and investigate the risk factors for dementia severity including hearing loss.</p><p><strong>Methods: </strong>This study was a cross-sectional study. Patients with dementia diagnosed by a psychiatrist or neurologist were invited to participate in this study. Audiometry and tympanometry were performed for hearing investigation. The severity of dementia was determined by the Thai Mental State Examination questionnaire, and the SD-SLP-01 aphasia screening questionnaire and associate factors were collected.</p><p><strong>Results: </strong>A total of 88 participants were included in the study. Two participants withdrew because they were unable to complete hearing tests. The prevalence of hearing loss in this study was 94.2%. The prevalence of aphasia was 25.6%. The most common type of hearing loss is sensorineural hearing loss. Twenty-five percent of participants had moderate to severe hearing loss. A statistically significant difference was observed in the mean Thai Mental State Examination scores across different degrees of hearing loss (<i>p</i> = 0.040). The factors that contributed to the severity of dementia included aphasia (OR: 14.40, 95% CI: 4.53-45.73, <i>p</i> < 0.001) and severe hearing loss (OR: 55.00, 95% CI: 0.83-3,650.97, <i>p</i> = 0.014).</p><p><strong>Conclusions: </strong>Our findings revealed an extremely high prevalence of hearing loss in the dementia population. Furthermore, a statistically significant association was observed between severe hearing loss and dementia.</p>","PeriodicalId":21398,"journal":{"name":"SAGE Open Medicine","volume":"13 ","pages":"20503121251333033"},"PeriodicalIF":2.3,"publicationDate":"2025-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12035296/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144014883","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":"Exploring grief and acceptance: Experiences and needs of family members of deceased organ donors.","authors":"Marzieh Latifi, Elahe Pourhosein, Habib Rahban, Fatemeh Estebsari, Maryam Pourhossein, Sanaz Dehghani","doi":"10.1177/20503121251333973","DOIUrl":"https://doi.org/10.1177/20503121251333973","url":null,"abstract":"<p><strong>Objective: </strong>Before considering organ donation, family members must come to terms with the fact that their loved one is brain dead and that organ donation is a meaningful path forward. This acceptance enables their consent to organ donation following brain death. This study was conducted to explore the experiences and needs of family members of deceased organ donors.</p><p><strong>Method: </strong>The study was conducted utilizing qualitative methods and conventional content analysis in accordance with Graneheim and Lundman's approach. Twelve family members of organ donors were chosen to participate through a combination of snowball and purposeful sampling methods. Data were gathered by using semi-structured interviews and critical discourse analysis.</p><p><strong>Results: </strong>Participants were 8 females and 4 males with a mean age of 55.25 ± 13.02. Data analysis led to the emergence of 2 themes (supporting system and coping strategy), 6 subthemes (psychological issues, social issues, communication with others, social support, meaning-making, coping with their grief), 17 categories (grief processing, emotional resilience, understanding mixed emotion, social support networks, stigma, social interaction, communal narratives, narrative therapy approaches, open communication, coping strategies, professional support, support groups, honor their memory, practice self-care, seek spiritual support, create rituals, be patient with grief, and limit stressors), 65 subcategories, and 1237 initial codes.</p><p><strong>Conclusions: </strong>To improve the organ donation process and support donor families, it is suggested that appropriate infrastructures and counseling groups for families be considered. The study recommends improving education and cultural sensitivity about brain death, providing counseling for families, and creating support networks. Furthermore, clearer communication about organ allocation can also help build trust between families and medical institutions.</p>","PeriodicalId":21398,"journal":{"name":"SAGE Open Medicine","volume":"13 ","pages":"20503121251333973"},"PeriodicalIF":2.3,"publicationDate":"2025-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12035057/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143982964","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":"Causal relationship between gastroesophageal reflux disease and the risk of chronic suppurative otitis media: a mendelian randomization analysis.","authors":"Qianyou Zheng, Ce Wu, Yaru Li, Jing Wu, Wenrui Tang, Qiuyang Zhu, Shaokang Ren, Xiaowen Zhang, Shenling Li, Tao Fu","doi":"10.1177/20503121251332151","DOIUrl":"https://doi.org/10.1177/20503121251332151","url":null,"abstract":"<p><strong>Objectives: </strong>While existing research has indicated a potential link between gastroesophageal reflux disease (GERD) and chronic suppurative otitis media (CSOM), these findings primarily stem from observational studies, which are inherently limited by confounding variables and methodological biases, thereby reducing their reliability. This research sought to elucidate the causative link between GERD and CSOM.</p><p><strong>Methods: </strong>A two-sample bidirectional Mendelian randomization (MR) study was conducted using genetic data to assess the causal relationship between GERD and CSOM. Pooled genetic data for GERD and CSOM were obtained from published genomewide association studies. Independent single nucleotide polymorphisms, rigorously screened as instrumental variables, were used in the analysis. The primary analytical method was inverse variance weighting (IVW), with additional sensitivity analyses performed to assess the robustness and reliability of the results.</p><p><strong>Results: </strong>Per MR analysis, genetically predicted GERD positively associated with an increased CSOM risk (IVW: <i>p</i> = 0.001, odds ratio = 2.08, 95% confidence interval: 1.33-3.27). Per reverse MR analysis, genetically predicted CSOM did not associate with an increased GERD risk. Sensitivity analyses did not identify horizontal pleiotropy or heterogeneity.</p><p><strong>Conclusions: </strong>For the first time, GERD was identified as a risk factor for CSOM through a bidirectional MR study. This finding provides high-level causal evidence for the prevention and management of CSOM and forms a basis for future clinical and mechanistic studies. Clinicians should consider the potential impact of GERD when treating patients with CSOM, as GERD may be an important risk factor.</p>","PeriodicalId":21398,"journal":{"name":"SAGE Open Medicine","volume":"13 ","pages":"20503121251332151"},"PeriodicalIF":2.3,"publicationDate":"2025-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12035063/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144010745","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":"Advancements in clinical practices of computed tomography imaging and its implications on surgical strategies for the management of cervical ossification of the posterior longitudinal ligament: A systematic review.","authors":"Wongthawat Liawrungrueang, Jong-Beom Park, Watcharaporn Cholamjiak, Sompoom Sunpaweravong, Peem Sarasombath, Chaiyapruk Pundee","doi":"10.1177/20503121251331795","DOIUrl":"https://doi.org/10.1177/20503121251331795","url":null,"abstract":"<p><strong>Objectives: </strong>This systematic review examines advancements in computed tomography imaging-based classification systems and their implications for surgical decision-making in managing cervical ossification of the posterior longitudinal ligament.</p><p><strong>Methods: </strong>This study is a systematic review. A comprehensive search of PubMed, MEDLINE, and Scopus databases identified relevant studies published from January 2010 to July 2024. The search utilized keywords including \"ossification of the posterior longitudinal ligament,\" \"cervical,\" \"spine,\" \"computed tomography,\" and \"classification.\" Studies meeting predefined inclusion criteria focused on computed tomography imaging for diagnosing and surgically managing cervical ossification of the posterior longitudinal ligament. The study adhered to Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines, and the ROBINS-I tool was used for risk of bias assessment.</p><p><strong>Results: </strong>Sixteen studies were included, demonstrating that computed tomography imaging enhances diagnostic precision and classification reliability for cervical ossification of the posterior longitudinal ligament. Comparative analysis across studies revealed consistent trends in computed tomography-based classification improving surgical decision-making, particularly influencing anterior approaches such as anterior controllable antedisplacement and fusion. However, moderate to severe risks of bias were identified in some studies, primarily due to confounding variables and deviations from intended interventions. Additionally, computed tomography imaging's role in prevalence studies has been expanded by incorporating, which highlights its epidemiological significance. The review also discusses the disadvantages of computed tomography, including radiation exposure and cost implications.</p><p><strong>Conclusions: </strong>Computed tomography imaging is a crucial modality for diagnosing and managing cervical ossification of the posterior longitudinal ligament, offering superior lesion classification and guiding surgical decision-making. Future research should refine classification systems and integrate multimodal imaging approaches to enhance diagnostic and therapeutic precision.</p>","PeriodicalId":21398,"journal":{"name":"SAGE Open Medicine","volume":"13 ","pages":"20503121251331795"},"PeriodicalIF":2.3,"publicationDate":"2025-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12033476/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144044146","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":"The relationship between 1,25(OH)₂D₃ levels and interleukin-32 and vascular endothelial growth factor levels in endometriosis cyst tissue: An original article.","authors":"Mirza Ismail, Hanom Husni Syam, Mulyanusa Amarullah Ritonga, Anita Rachmawati, Wiryawan Permadi, Ruswana Anwar, Shofwal Widad","doi":"10.1177/20503121251332405","DOIUrl":"https://doi.org/10.1177/20503121251332405","url":null,"abstract":"<p><strong>Background: </strong>Endometriosis involves the presence of endometrial-like tissue outside the uterus, driven by inflammatory pathways including elevated interleukin-32 and vascular endothelial growth factor. One potential anti-inflammatory agent is active vitamin D (1,25(OH)₂D₃).</p><p><strong>Objectives: </strong>This research investigates the correlation among 1,25(OH)₂D₃ levels, interleukin-32, and vascular endothelial growth factor in confirmed endometriosis cases.</p><p><strong>Methods: </strong>This observational analytic correlational study aimed to explore the relationship between these inflammatory factors and vitamin D levels in endometriosis. The study involved 46 participants, with histopathologically confirmed endometriosis cyst tissue collected from patients undergoing laparotomy or laparoscopy at three hospitals: Dr. Hasan Sadikin Hospital Bandung, Cibabat General Hospital Cimahi, and Limijati Maternity and Children's Hospital. The levels of interleukin-32, vascular endothelial growth factor, and 1,25(OH)₂D₃ were measured using the enzyme-linked immunosorbent assay method at the Clinical Pathology Laboratory of Dr. Hasan Sadikin Hospital Bandung.</p><p><strong>Results: </strong>The study revealed significant negative correlations between 1,25(OH)₂D₃ and both interleukin-32 (<i>r</i> = -0.346; <i>p</i> = 0.019) and vascular endothelial growth factor levels (<i>r</i> = -0.316; <i>p</i> = 0.032). Conversely, there was a significant positive correlation between vascular endothelial growth factor and interleukin-32 (<i>r</i> = 0.490; <i>p</i> = 0.001).</p><p><strong>Conclusions: </strong>These findings underscore the role of active vitamin D in mitigating inflammation associated with endometriosis by reducing interleukin-32 and vascular endothelial growth factor, critical factors in inflammatory responses and blood vessel formation. Moreover, the positive association between vascular endothelial growth factor and interleukin-32 highlights their collaborative role in the inflammatory processes underlying endometriosis. This study contributes to understanding how vitamin D may modulate key inflammatory pathways implicated in the pathogenesis of this condition.</p>","PeriodicalId":21398,"journal":{"name":"SAGE Open Medicine","volume":"13 ","pages":"20503121251332405"},"PeriodicalIF":2.3,"publicationDate":"2025-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12033403/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144019368","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":"Efficacy and safety of capsaicin 8% patches: The experience of a rheumatology department.","authors":"Sylvain Mathieu, Marion Couderc, Marine Beauger, Sandrine Malochet-Guinamand, Marie-Eva Pickering, Martin Soubrier, Anne Tournadre","doi":"10.1177/20503121251330335","DOIUrl":"https://doi.org/10.1177/20503121251330335","url":null,"abstract":"<p><strong>Background: </strong>Capsaicin 8% patches are recommended for the treatment of localized neuropathic pain, which is a frequent reason for rheumatology consultations.</p><p><strong>Objectives: </strong>This study aimed to evaluate the efficacy and safety of capsaicin 8% used in our Rheumatology Department.</p><p><strong>Design: </strong>Single-center retrospective study.</p><p><strong>Methods: </strong>Patients treated by capsaicin 8% between October 03, 2019 and December 31, 2023 were included. Their age, sex, pain duration, DN4 score, pain intensity, and the cause of the neuropathic pain were collected. Patch safety was assessed on the day of application and after 15 days. The patient was asked about improvement, pain intensity, and the occurrence of burning sensations.</p><p><strong>Results: </strong>One hundred twelve patients (mean age 62, 70% female) were included. The causes of neuropathic pain were especially scar (<i>n</i> = 31), digital osteoarthritis (<i>n</i> = 26), or radiculalgia (<i>n</i> = 22). Sixty patients reported improvement (54%) at day 15, with a mean percentage of improvement of 59%. Mean pain intensity decreased from 6.4 ± 1.9 to 4.5 ± 2.7 (<i>p</i> < 0.001). This improvement in pain was significant regardless of etiology. There was no difference in age, sex, and pain duration between improved and unimproved patients. Fifty-eight patients (58/106: 54.7%) experienced burning sensations after patching, mainly of moderate to high intensity (32/52: 61.5%), with an average duration of 2 days. Of the eight unimproved after the first patch, six reported a 50% improvement after the second patch.</p><p><strong>Conclusion: </strong>Capsaicin 8% appeared to be an effective treatment in localized neuropathic pain, whatever the cause. It seemed beneficial to repeat the application after the 1st one had failed. Burning sensations after placement were fairly frequent, usually moderate to high, but lasting only a short time.</p>","PeriodicalId":21398,"journal":{"name":"SAGE Open Medicine","volume":"13 ","pages":"20503121251330335"},"PeriodicalIF":2.3,"publicationDate":"2025-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12033592/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144009360","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":"Biomarkers for successful tapering of a tumor necrosis factor inhibitor in patients with radiographic axial spondyloarthritis: A pilot study.","authors":"Hong Ki Min, Ji-Yeon Lee","doi":"10.1177/20503121251330812","DOIUrl":"https://doi.org/10.1177/20503121251330812","url":null,"abstract":"<p><strong>Background: </strong>Tumor necrosis factor inhibitors are the most widely used biological disease-modifying antirheumatic drugs for radiographic axial spondyloarthritis. After achieving remission with tumor necrosis factor inhibitor treatment, experts recommend tapering tumor necrosis factor inhibitor. However, biomarkers for successful tumor necrosis factor inhibitor tapering in radiographic axial spondyloarthritis have not been identified.</p><p><strong>Objectives: </strong>To identify biomarkers associated with successful tumor necrosis factor inhibitor tapering in patients with radiographic axial spondyloarthritis.</p><p><strong>Design: </strong>We prospectively collected blood samples from radiographic axial spondyloarthritis patients at single tertiary hospital.</p><p><strong>Methods: </strong>Patients with radiographic axial spondyloarthritis who achieved remission (axial spondyloarthritis disease activity score < 1.3) after treatment with tumor necrosis factor inhibitor were enrolled. Baseline demographics, medication history, and laboratory data were collected when the tumor necrosis factor inhibitor dose was tapered. The percentage of helper T cell subtypes (Th1/Th2/Th17/Th22) in peripheral blood, and serum levels of tumor necrosis factor-α, interleukin-12, IL-17A, IL-22, IL-23, interferon (IFN)-γ, soluble CD14, and zonulin, were measured. Patients were assigned to tumor necrosis factor inhibitor tapering success (axial spondyloarthritis disease activity score < 2.1) or failure (axial spondyloarthritis disease activity score ⩾ 2.1) groups according to disease activity (assessed at 12 weeks posttumor necrosis factor inhibitor tapering).</p><p><strong>Results: </strong>Twenty radiographic axial spondyloarthritis patients were enrolled (median age, 31.0 years; 65% males). Most (80%) were positive for human leukocyte antigen-B27. The change of axial spondyloarthritis disease activity score in the tumor necrosis factor inhibitor-tapering failure group was 1.36, while that in the tumor necrosis factor inhibitor-tapering success group was 0.07. The percentage of Th1 and Th17 cells was significantly lower, and that of Th2 cells higher, in the tumor necrosis factor inhibitor-tapering success group. In addition, serum levels of IL-12, IL-17A, IL-22, IFN-γ, tumor necrosis factor-α, zonulin, and soluble CD14 were significantly lower in the tumor necrosis factor inhibitor-tapering success group.</p><p><strong>Conclusion: </strong>Patients with radiographic axial spondyloarthritis who achieve successful tumor necrosis factor inhibitor tapering had lower percentages of Th1 and Th17 cells, a higher percentage of Th2 cells, and lower serum levels of IL-12, IL-17A, IL-22, IFN-γ, tumor necrosis factor-α, zonulin, and soluble CD14 at the time of tumor necrosis factor inhibitor tapering. These findings may help to identify patients with radiographic axial spondyloarthritis for whom tumor necrosis factor inhibitor tapering is appropriate.</p>","PeriodicalId":21398,"journal":{"name":"SAGE Open Medicine","volume":"13 ","pages":"20503121251330812"},"PeriodicalIF":2.3,"publicationDate":"2025-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12033542/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144064556","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":"Functional analysis of 6 variations in <i>FOXL2</i>.","authors":"Yuan Wang, Qian Wu, Yunyu Zhou, Wen Liu, Wenhong Cao, Yunwei Fan, Ningdong Li","doi":"10.1177/20503121251329287","DOIUrl":"10.1177/20503121251329287","url":null,"abstract":"<p><strong>Objective: </strong>We aimed to investigate the functional alterations caused by pathogenic variants in the <i>FOXL2</i> gene, a forkhead transcriptional factor.</p><p><strong>Methods: </strong>This study is an experimental research with a duration from January to September 2022. We selected six variants for analysis, including a double missense variant, c.150C>G (p. Asp50Glu) and c.326A>T (p. Asn109Ile); three deletions, c.411_412del (p. Met137Ilefs101), c.533_542del (p. Val178Alafs90), and c.684delA (p. Ala229Leufs43); a nonsense variant, c.214G>T (p. Glu72); and a duplication, c.663_692dup (p. Ala225_Ala234dup). We constructed expression vectors containing these variants and transfected them into HeLa cells. Confocal microscopy was used to observe the subcellular localization of the expressed proteins. We evaluated gene expression using dual luciferase reporter assays and quantitative PCR.</p><p><strong>Results: </strong>Proteins expressed by vectors with deletion variants were predominantly localized to the nucleus, while those with the double missense variant exhibited diffuse expression throughout the cell. Proteins from nonsense and duplication variants localized to the cytoplasm. Luciferase activity assays revealed that proteins encoded by the p. Ala229Leufs43, p. Glu72, and p. Ala225_Ala234dup variants significantly diminished the inhibitory effects on the transcription of the <i>StAR</i> gene. Additionally, all proteins encoded by indel and nonsense variants, except for the double missense variant, demonstrated a marked reduction in their inhibitory effects on <i>CCDN2</i> and <i>INHBB</i> gene expression.</p><p><strong>Conclusions: </strong>The double missense variant does not exert a superimposed inhibitory effect on gene expression. Despite differences in subcellular localization, all mutant proteins produced by these variants likely interfere with downstream gene expression through a shared pathway. Furthermore, mutant <i>FOXL2</i> proteins may disrupt ovarian development via multiple pathways, extending beyond their impact on <i>StAR</i> gene expression.</p>","PeriodicalId":21398,"journal":{"name":"SAGE Open Medicine","volume":"13 ","pages":"20503121251329287"},"PeriodicalIF":2.3,"publicationDate":"2025-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11956509/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143754387","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":"Enablers and barriers to the use of portable ultrasound devices for antenatal care in rural health centers in the Philippines.","authors":"Jacob Anthony Batuhan, Reynan Hernandez, Florentina Villanueva, Airen Sigue, Kevyn Yu, Kate Wad-Asen, Beatriz Carandang, Jeremie Bartelheimer","doi":"10.1177/20503121251330991","DOIUrl":"10.1177/20503121251330991","url":null,"abstract":"<p><strong>Objectives: </strong>This qualitative study aims to examine the enablers and barriers to portable ultrasound device utilization for antenatal care in rural Philippine health centers, with the goal of improving maternal outcomes and reducing maternal mortality.</p><p><strong>Methods: </strong>We conducted focus group discussions with 18 healthcare workers (midwives, a nurse, and a radiologic technician) and 20 pregnant women across 5 rural health centers. We used inductive thematic analysis to identify system-related, provider-related, and client-related enablers and barriers.</p><p><strong>Results: </strong>Enablers included free ultrasound services, hospital policies requiring prenatal scans, provider training, awareness creation, patient interest and acceptance, and confidence in HCWs' capabilities. Barriers comprised resource limitations, distance to facilities, insufficient HCW skills, time constraints, emotional fears, traditional beliefs, misconceptions, and lack of trust in providers' competence.</p><p><strong>Conclusion: </strong>Addressing resource gaps, ongoing provider training, and patient education may enhance portable ultrasound device uptake and significantly improve maternal health outcomes in low-resource settings.</p>","PeriodicalId":21398,"journal":{"name":"SAGE Open Medicine","volume":"13 ","pages":"20503121251330991"},"PeriodicalIF":2.3,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11956504/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143754384","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}