DiagnosticsPub Date : 2024-10-25DOI: 10.3390/diagnostics14212376
Wei-Feng Jiang, Yu-Min Sun, Xing-Biao Qiu, Shao-Hui Wu, Yuan-Yuan Ding, Ning Li, Chen-Xi Yang, Ying-Jia Xu, Ting-Bo Jiang, Yi-Qing Yang
{"title":"Identification and Functional Investigation of <i>SOX4</i> as a Novel Gene Underpinning Familial Atrial Fibrillation.","authors":"Wei-Feng Jiang, Yu-Min Sun, Xing-Biao Qiu, Shao-Hui Wu, Yuan-Yuan Ding, Ning Li, Chen-Xi Yang, Ying-Jia Xu, Ting-Bo Jiang, Yi-Qing Yang","doi":"10.3390/diagnostics14212376","DOIUrl":"10.3390/diagnostics14212376","url":null,"abstract":"<p><p><b>Background:</b> Atrial fibrillation (AF) signifies the most prevalent supraventricular arrhythmia in humans and may lead to cerebral stroke, cardiac failure, and even premature demise. Aggregating strong evidence points to genetic components as a cornerstone in the etiopathogenesis of familial AF. However, the genetic determinants for AF in most patients remain elusive. <b>Methods:</b> A 4-generation pedigree with idiopathic AF and another cohort of 196 unrelated patients with idiopathic AF as well as 278 unrelated healthy volunteers were recruited from the Chinese population of Han ethnicity. A family-based whole-exome sequencing examination followed by a Sanger sequencing assay in all research subjects was implemented. The functional impacts of the identified <i>SOX4</i> mutations were explored via a dual-reporter assay. <b>Results:</b> Two new heterozygous <i>SOX4</i> mutations, NM_003107.3: c.211C>T; p.(Gln71*) and NM_003107.3: c.290G>A; p.(Trp97*), were observed in the family and 1 of 196 patients with idiopathic AF, respectively. The two mutations were absent in the 278 control individuals. The biochemical measurements revealed that both Gln71*- and Trp97*-mutant SOX4 failed to transactivate <i>GJA1 (Cx43)</i>. Moreover, the two mutations nullified the synergistic activation of <i>SCN5A</i> by SOX4 and TBX5. <b>Conclusions:</b> The findings first indicate <i>SOX4</i> as a gene predisposing to AF, providing a novel target for antenatal genetic screening, individualized prophylaxis, and precision treatment of AF.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"14 21","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11544904/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142616490","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
DiagnosticsPub Date : 2024-10-25DOI: 10.3390/diagnostics14212382
Ibrahem Kanbayti, Judith Akwo, Akwa Erim, Ekaete Ukpong, Ernest Ekpo
{"title":"Mammographic Breast Density at Breast Cancer Diagnosis and Breast Cancer-Specific Survival.","authors":"Ibrahem Kanbayti, Judith Akwo, Akwa Erim, Ekaete Ukpong, Ernest Ekpo","doi":"10.3390/diagnostics14212382","DOIUrl":"10.3390/diagnostics14212382","url":null,"abstract":"<p><p><b>Background:</b> Breast density impacts upon breast cancer risk and recurrence, but its influence on breast cancer-specific survival is unclear. This study examines the influence of mammographic breast density (MBD) at diagnosis on breast cancer-specific survival. <b>Methods:</b> The data of 224 patients diagnosed with breast cancer were analyzed. Two area-based MBD measurement tools-AutoDensity and LIBRA-were used to measure MBD via a mammogram of the contralateral breast acquired at the time of diagnosis. These patients were split into two groups based on their percent breast density (PBD): high (PBD ≥ 20%) versus low (PBD < 20%). Breast cancer-specific survival in each of these PBD groups was assessed at a median follow-up of 34 months using Kaplan-Meier analysis and the Cox proportional hazards model. <b>Results:</b> The proportion of women with low PBD who died from breast cancer was significantly higher than that seen with high PBD (<i>p</i> = 0.01). The 5-year breast cancer-specific survival was poorer among women with low PBD than those with high PBD (0.348; 95% CI: 0.13-0.94) vs. 0.87; 95% CI: (0.8-0.96); <i>p</i> < 0.001)]. Women with higher breast density demonstrated longer survival regardless of the method of PBD measurement: LIBRA [log-rank test (Mantel-Cox): 9.4; <i>p</i> = 0.002)]; AutoDensity [log-rank test (Mantel-Cox) 7.6; <i>p</i> = 0.006]. Multivariate analysis also demonstrated that there was a higher risk of breast cancer-related deaths in women with low PBD (adjusted HR: 5.167; 95% CI: 1.974-13.521; <i>p</i> = 0.001). <b>Conclusion:</b> Women with <20% breast density at breast cancer diagnosis demonstrate poor survival regarding the disease. The impact of breast density on survival is not influenced by the method of measurement.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"14 21","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11545516/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142616524","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
DiagnosticsPub Date : 2024-10-25DOI: 10.3390/diagnostics14212379
Matilde Iorizzo, Laura Vollono, Bertrand Richert
{"title":"Diagnosis and Management of Malignant Epithelial Nail Unit Tumors.","authors":"Matilde Iorizzo, Laura Vollono, Bertrand Richert","doi":"10.3390/diagnostics14212379","DOIUrl":"10.3390/diagnostics14212379","url":null,"abstract":"<p><p><b>Background</b>: Malignant epithelial nail unit tumors pose significant diagnostic and therapeutic challenges due to their clinical presentation often mimicking benign conditions and due to the need to preserve as much nail unit function as possible during surgery. Early detection is crucial, even if none of these tumors represent a life-threatening disease. <b>Objectives</b>: This review focus on squamous cell carcinoma, verrucous carcinoma, eccrine porocarcinoma, onychocytic carcinoma, basal cell carcinoma, malignant onychopapilloma, malignant onycholemmal cyst and onycholemmal carcinoma. <b>Methods</b>: Existing literature on the aforementioned tumors has been revised and synthesized. <b>Results</b>: Clinical presentation, pathology, diagnostic procedures, risk factors and the challenges associated with surgical management have been described in detail. <b>Conclusions</b>: Malignant epithelial tumors of the nail unit require careful evaluation and management due to their complex presentation. Early detection and an informed surgical approach are essential to improve patient outcomes and minimize complications.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"14 21","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11545385/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142616479","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Explainable Multi-Layer Dynamic Ensemble Framework Optimized for Depression Detection and Severity Assessment.","authors":"Dillan Imans, Tamer Abuhmed, Meshal Alharbi, Shaker El-Sappagh","doi":"10.3390/diagnostics14212385","DOIUrl":"10.3390/diagnostics14212385","url":null,"abstract":"<p><strong>Background: </strong>Depression is a pervasive mental health condition, particularly affecting older adults, where early detection and intervention are essential to mitigate its impact. This study presents an explainable multi-layer dynamic ensemble framework designed to detect depression and assess its severity, aiming to improve diagnostic precision and provide insights into contributing health factors.</p><p><strong>Methods: </strong>Using data from the National Social Life, Health, and Aging Project (NSHAP), this framework combines classical machine learning models, static ensemble methods, and dynamic ensemble selection (DES) approaches across two stages: detection and severity prediction. The depression detection stage classifies individuals as normal or depressed, while the severity prediction stage further classifies depressed cases as mild or moderate-severe. Finally, a confirmation depression scale prediction model estimates depression severity scores to support the two stages. Explainable AI (XAI) techniques are applied to improve model interpretability, making the framework more suitable for clinical applications.</p><p><strong>Results: </strong>The framework's FIRE-KNOP DES algorithm demonstrated high efficacy, achieving 88.33% accuracy in depression detection and 83.68% in severity prediction. XAI analysis identified mental and non-mental health indicators as significant factors in the framework's performance, emphasizing the value of these features for accurate depression assessment.</p><p><strong>Conclusions: </strong>This study emphasizes the potential of dynamic ensemble learning in mental health assessments, particularly in detecting and evaluating depression severity. The findings provide a strong foundation for future use of dynamic ensemble frameworks in mental health assessments, demonstrating their potential for practical clinical applications.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"14 21","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11545061/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142616518","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
DiagnosticsPub Date : 2024-10-25DOI: 10.3390/diagnostics14212378
Diogo Telles-Correia
{"title":"New Advances in the Diagnosis and Treatment of Mental Disorders.","authors":"Diogo Telles-Correia","doi":"10.3390/diagnostics14212378","DOIUrl":"10.3390/diagnostics14212378","url":null,"abstract":"<p><p>One of the fundamental aspects of research in psychiatry, and what makes it such a complex area, is its methodological specificities [...].</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"14 21","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11544968/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142615144","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
DiagnosticsPub Date : 2024-10-25DOI: 10.3390/diagnostics14212380
Hyung-Youl Park, Ho-Young Jung, Geon-U Kim, Se-Heon Lee, Jun-Seok Lee
{"title":"Sagittal Realignment Following Decompression for Lumbar Spinal Stenosis in Elderly Patients: A Comprehensive EOS Imaging Analysis.","authors":"Hyung-Youl Park, Ho-Young Jung, Geon-U Kim, Se-Heon Lee, Jun-Seok Lee","doi":"10.3390/diagnostics14212380","DOIUrl":"10.3390/diagnostics14212380","url":null,"abstract":"<p><strong>Background/objectives: </strong>This study investigated whether decompression surgery for lumbar spinal stenosis can effectively improve sagittal alignment in elderly patients. With the growing focus on sagittal balance in spinal surgery, this study aimed to evaluate post-decompression alignment changes and identify the factors influencing these changes using the EOS imaging system.</p><p><strong>Methods: </strong>A retrospective analysis was conducted on 49 elderly patients who underwent decompression surgery alone for lumbar spinal stenosis. Radiologic parameters, measured using the EOS system, and clinical outcomes were assessed preoperatively, at two weeks postoperatively, and at one year postoperatively. Patients were grouped based on the improvement of the sagittal vertical axis (SVA) by 25 mm or more. A multivariate analysis was performed to identify factors affecting sagittal alignment changes.</p><p><strong>Results: </strong>Significant sagittal alignment improvements were observed postoperatively, including a notable increase in thoracic kyphosis and a decrease in SVA observed at one year. Clinical outcomes, such as the Oswestry disability index (ODI) and EQ-5D, significantly improved at both two weeks and one year postoperatively compared to preoperative values (all <i>p</i>-values < 0.05). Multivariate analysis revealed that greater preoperative SVA and higher ODI were significant predictors of sagittal alignment changes (odds ratio [OR] for SVA = 1.014, OR for ODI = 1.034).</p><p><strong>Conclusions: </strong>Decompression surgery for lumbar spinal stenosis in elderly patients can result in significant improvements in sagittal alignment and clinical outcomes. The study suggests that decompression alone is a viable surgical option for elderly patients, particularly those with a greater preoperative sagittal imbalance and disability, even in the absence of major deformities.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"14 21","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11545750/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142616333","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
DiagnosticsPub Date : 2024-10-25DOI: 10.3390/diagnostics14212381
Noah Musolff, Carmen Cantisani, Stefania Guida, Simone Michelini, Madeline Tchack, Babar Rao, Giovanni Pellacani
{"title":"Different Pathways of Skin Aging: Objective Instrumental Evaluation.","authors":"Noah Musolff, Carmen Cantisani, Stefania Guida, Simone Michelini, Madeline Tchack, Babar Rao, Giovanni Pellacani","doi":"10.3390/diagnostics14212381","DOIUrl":"10.3390/diagnostics14212381","url":null,"abstract":"<p><p><b>Background/Objectives</b>: Hypertrophic and atrophic skin aging represent two distinct phenotypes: hypertrophic aging is marked by deep wrinkles and a leathery texture, whereas atrophic aging is characterized by overall skin thinning, increased vascularity, and a higher risk of non-melanoma skin cancers. This study aims to elucidate the characteristics and differences between hypertrophic and atrophic facial aging subtypes using two non-invasive imaging devices: VISIA<sup>®</sup> and dynamic optical coherence tomography (D-OCT). <b>Methods</b>: We retrospectively evaluated patients who had presented to the outpatient dermatological clinic at Policlinico Umberto I hospital in Rome, Italy for a non-invasive facial imaging check-up. We included 40 patients aged 60-75 who were imaged with VISIA<sup>®</sup> and dynamic optical coherence tomography (D-OCT). Based on the number of UV spots and amount of red found on VISIA<sup>®</sup>, subjects were grouped into four subgroups (PIGM, RED, CONTROL, PIGM + RED), and trends among them were analyzed. <b>Results</b>: We found a strong correlation between VISIA<sup>®</sup> red area scores and D-OCT vascular density at 300 µm depth, confirming VISIA<sup>®</sup>'s effectiveness for assessing facial vascularity. Wrinkle count was highest in areas with UV spots, particularly in the PIGM and PIGM + RED groups. Conversely, low attenuation coefficients and dermal density were observed in regions with low UV spots but high red areas. Intermediate subgroups (CONTROL and PIGM + RED) displayed varying parameters. <b>Conclusions</b>: Non-invasive imaging devices are effective in evaluating facial aging and distinguishing between aging subtypes. This study identified two intermediate aging types in addition to the hypertrophic and atrophic subtypes.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"14 21","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11545785/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142616495","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
DiagnosticsPub Date : 2024-10-25DOI: 10.3390/diagnostics14212377
Sophie Jones, Kathleen Pheasant, Colette Dalton, Julie Green, Catherine Moore
{"title":"Clinical Performance of the LiquidArray<sup>®</sup> Gastrointestinal VER 1.0 Assay in Patients with Suspected Gastroenteritis.","authors":"Sophie Jones, Kathleen Pheasant, Colette Dalton, Julie Green, Catherine Moore","doi":"10.3390/diagnostics14212377","DOIUrl":"10.3390/diagnostics14212377","url":null,"abstract":"<p><strong>Background/objectives: </strong>Rapid and accurate pathogen identification is essential for the proper management of patients with infectious gastroenteritis, as well as for a better control of disease outbreaks. This observational, non-interventional, single-site study evaluated the diagnostic accuracy of LiquidArray<sup>®</sup> Gastrointestinal VER 1.0, a multiplex PCR syndromic panel capable of detecting up to 26 clinically relevant enteropathogens.</p><p><strong>Methods: </strong>Sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV) and likelihood ratio (LR) were evaluated using stool samples from 1512 patients with suspected gastroenteritis and were compared to seven competitor assays.</p><p><strong>Results: </strong>LiquidArray<sup>®</sup> Gastrointestinal VER 1.0 showed a very low invalid rate (0.5% at initial testing, down to 0% after repeat) and high sensitivity (>90% for most detected targets) and specificity (>99% for all detected targets). Accordingly, the PPV and NPV were high (>90% for most targets and >99% for all targets, respectively). The analytical performance of LiquidArray<sup>®</sup> Gastrointestinal VER 1.0 was also excellent as to co-amplification capability, cross-reactivity and assay precision.</p><p><strong>Conclusions: </strong>This study demonstrates the excellent clinical performance of LiquidArray<sup>®</sup> Gastrointestinal VER 1.0 and its suitability for implementation in clinical routine for the rapid and accurate diagnosis of infectious gastroenteritis.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"14 21","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11544872/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142635922","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
DiagnosticsPub Date : 2024-10-24DOI: 10.3390/diagnostics14212368
Sema Murat, Burcu Batak, Özge Aydoğ, Caner Öztürk
{"title":"The Accuracy of Intraoral Scanners in Maxillary Defects with Different Model Variations.","authors":"Sema Murat, Burcu Batak, Özge Aydoğ, Caner Öztürk","doi":"10.3390/diagnostics14212368","DOIUrl":"10.3390/diagnostics14212368","url":null,"abstract":"<p><p><b>Background:</b> Advances in digital technology and intraoral scanners (IOSs) have the potential to enable accurate digital impressions for patients with maxillary defects. This study aimed to compare the accuracy of IOSs in completely and partially edentulous models with maxillary defects. <b>Methods:</b> Three polyurethane models-one completely edentulous (CE) and two partially edentulous, following Aramany classifications I (ACI) and II (ACII)-were created using stereolithography. These models were scanned with a desktop scanner to create reference models. Ten scans were performed using three different intraoral scanners (TRIOS 3, Primescan, and Virtuo Vivo). The IOS datasets were analyzed to assess trueness and precision using a two-way ANOVA and multiple-comparison tests with Bonferroni corrections (α = 0.05). <b>Results:</b> Both the model type and the IOS significantly influenced trueness and precision. The interaction between the model type and the IOS was found to be statistically significant (trueness: <i>p</i> = 0.001; precision: <i>p</i> = 0.005). The highest trueness was observed in the ACII model scanned with TRIOS 3 and Primescan. TRIOS 3 and Primescan also exhibited the highest precision in the ACII model. For Virtuo Vivo, there were no significant differences among the models (<i>p</i> = 0.48). <b>Conclusions:</b> Although intraoral scanners (IOSs) demonstrated significant differences in trueness when used in completely and partially edentulous models with maxillary defects, these differences may be considered clinically insignificant.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"14 21","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11545352/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142635927","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Molar Incisor Hypomineralization: Etiology, Correlation with Tooth Number Anomalies and Implications for Comprehensive Management Strategies in Children from Transylvania.","authors":"Laura-Roxana Contac, Silvia Izabella Pop, Septimiu Voidazan, Cristina Ioana Bica","doi":"10.3390/diagnostics14212370","DOIUrl":"10.3390/diagnostics14212370","url":null,"abstract":"<p><strong>Background/objectives: </strong>This study investigates the etiology of enamel developmental defects, specifically Molar Incisor Hypomineralization (MIH), and explores correlations between MIH and dental anomalies such as hypodontia to improve interdisciplinary restorative and orthodontic treatments. Additionally, it assesses the influence of stress factors on the development of enamel defects.</p><p><strong>Methods: </strong>Conducted from July to September 2024, this study involved 57 patients aged 6 to 11 from an urban setting, divided into two groups: 32 with MIH and 25 controls, selected based on criteria of mixed dentition without systemic pathology or chronic medication. Clinical evaluations, including intraoral photographs and panoramic radiographs, were performed alongside a detailed questionnaire addressed to the mothers covering prenatal, perinatal, and postnatal factors.</p><p><strong>Results: </strong>The average age of children with MIH was 7.5 years, in contrast to 7.04 years in the control group (<i>p</i> = 0.17). Significant differences were noted in maternal age, with MIH mothers older (35.56 years) than controls (29.36, <i>p</i> = 0.0001). The prevalence of MIH was higher in boys (66.7%) compared to girls (38.1%, <i>p</i> = 0.036). Factors such as prolonged labor, medication during birth, and early postnatal medication were significantly linked to MIH. The study shows a strong correlation with hypodontia, with a significantly higher incidence of tooth number anomalies (<i>p</i> = 0.009) in the study group.</p><p><strong>Conclusions: </strong>Overall, the study emphasizes the association of MIH with various maternal and birth-related factors and with hypodontia, highlighting the need for a comprehensive, multidisciplinary approach to diagnosis and treatment. Further research is recommended to investigate the relationship between stress factors and MIH.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"14 21","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11545825/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142616532","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}