Diagnostics最新文献

{"title":"Impact of Hip Exercises on Postural Stability and Function in Patients with Chronic Lower Back Pain.","authors":"Inhwan Leem, Gyu Bin Lee, Ji Won Wang, Sang Woo Pyun, Chang-Jun Kum, Jin Hyuck Lee, Hyeong-Dong Kim","doi":"10.3390/diagnostics15101229","DOIUrl":"10.3390/diagnostics15101229","url":null,"abstract":"<p><p><b>Background and Objective:</b> This study aimed to compare functional and clinical outcomes between patients with chronic non-specific lower back pain (NSLBP) with restricted hip extension mobility who performed spinal stabilization exercises with hip mobilization either with or without additional hip exercises. <b>Methods:</b> A total of 42 patients with chronic NSLBP with restricted hip extension mobility were enrolled (21 with and 21 without additional hip exercises). Functional and clinical outcomes were assessed based on hip joint mobility, back extensor endurance, postural stability, and patient-reported outcomes, including visual analog scale (VAS) and Oswestry disability index (ODI) scores. <b>Results:</b> A significant group-time interaction was identified for postural stability (Rt: <i>p</i> < 0.001, Lt: <i>p</i> = 0.002) and the ODI (<i>p</i> = 0.004). After the intervention, the group with additional hip exercises demonstrated significantly greater improvements in postural stability (Rt: <i>p</i> < 0.001; Lt: <i>p</i> = 0.01) and ODI scores (<i>p</i> < 0.001) compared with the group without additional hip exercises. However, no significant main group effect or group-time interaction was observed for the hip joint mobility, back extensor endurance, or VAS scores (all <i>p</i> > 0.05). Furthermore, the ODI score (r² = 0.123, <i>p</i> = 0.023) was an independent predictor of hip joint mobility but not the VAS score (<i>p</i> > 0.05). <b>Conclusions:</b> Hip exercises may improve postural stability and function in patients with chronic NSLBP with restricted hip extension mobility. Notably, clinicians and therapists must recognize the importance of hip exercises during rehabilitation of patients with chronic NSLBP with restricted hip extension mobility.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 10","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12110692/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144157359","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":"Diagnostic Performance of Publicly Available Large Language Models in Corneal Diseases: A Comparison with Human Specialists.","authors":"Cheng Jiao, Erik Rosas, Hassan Asadigandomani, Mohammad Delsoz, Yeganeh Madadi, Hina Raja, Wuqaas M Munir, Brendan Tamm, Shiva Mehravaran, Ali R Djalilian, Siamak Yousefi, Mohammad Soleimani","doi":"10.3390/diagnostics15101221","DOIUrl":"10.3390/diagnostics15101221","url":null,"abstract":"<p><p><b>Background/Objectives:</b> This study evaluated the diagnostic accuracy of seven publicly available large language models (LLMs)-GPT-3.5, GPT-4.o Mini, GPT-4.o, Gemini 1.5 Flash, Claude 3.5 Sonnet, Grok3, and DeepSeek R1-in diagnosing corneal diseases, comparing their performance to human specialists. <b>Methods:</b> Twenty corneal disease cases from the University of Iowa's EyeRounds were presented to each LLM. Diagnostic accuracy was determined by comparing LLM-generated diagnoses to the confirmed case diagnoses. Four human cornea specialists evaluated the same cases to establish a benchmark and assess interobserver agreement. <b>Results:</b> Diagnostic accuracy varied significantly among LLMs (<i>p</i> = 0.001). GPT-4.o achieved the highest accuracy (80.0%), followed by Claude 3.5 Sonnet and Grok3 (70.0%), DeepSeek R1 (65.0%), GPT-3.5 (60.0%), GPT-4.o Mini (55.0%), and Gemini 1.5 Flash (30.0%). Human experts averaged 92.5% accuracy, outperforming all LLMs (<i>p</i> < 0.001, Cohen's d = -1.314). GPT-4.o showed no significant difference from human consensus (<i>p</i> = 0.250, κ = 0.348), while Claude and Grok3 showed fair agreement (κ = 0.219). DeepSeek R1 also performed reasonably (κ = 0.178), although not significantly. <b>Conclusions:</b> Among the evaluated LLMs, GPT-4.o, Claude 3.5 Sonnet, Grok3, and DeepSeek R1 demonstrated promising diagnostic accuracy, with GPT-4.o most closely matching human performance. However, performance remained inconsistent, especially in complex cases. LLMs may offer value as diagnostic support tools, but human expertise remains indispensable for clinical decision-making.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 10","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12110359/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144157292","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":"Emerging Biomarkers and Advanced Diagnostics in Chronic Kidney Disease: Early Detection Through Multi-Omics and AI.","authors":"Sami Alobaidi","doi":"10.3390/diagnostics15101225","DOIUrl":"10.3390/diagnostics15101225","url":null,"abstract":"<p><p>Chronic kidney disease (CKD) remains a significant global health burden, often diagnosed at advanced stages due to the limitations of traditional biomarkers such as serum creatinine and estimated glomerular filtration rate (eGFR). This review aims to critically evaluate recent advancements in novel biomarkers, multi-omics technologies, and artificial intelligence (AI)-driven diagnostic strategies, specifically addressing existing gaps in early CKD detection and personalized patient management. We specifically explore key advancements in CKD diagnostics, focusing on emerging biomarkers-including neutrophil gelatinase-associated lipocalin (NGAL), kidney injury molecule-1 (KIM-1), soluble urokinase plasminogen activator receptor (suPAR), and cystatin C-and their clinical applications. Additionally, multi-omics approaches integrating genomics, proteomics, metabolomics, and transcriptomics are reshaping disease classification and prognosis. Artificial intelligence (AI)-driven predictive models further enhance diagnostic accuracy, enabling real-time risk assessment and treatment optimization. Despite these innovations, challenges remain in biomarker standardization, large-scale validation, and integration into clinical practice. Future research should focus on refining multi-biomarker panels, improving assay standardization, and facilitating the clinical adoption of precision-driven diagnostics. By leveraging these advancements, CKD diagnostics can transition toward earlier intervention, individualized therapy, and improved patient outcomes.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 10","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12110191/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144157298","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":"Syndromic Testing-The Evaluation of Four Novel Multiplex Real-Time Polymerase Chain Reaction Panels.","authors":"Mesut Yılmaz, Selcuk Kilic, Fatma Bayrakdar, Selin Nar Ötgün, Ayse Istanbullu Tosun, Umit Zeybek, Faruk Çelik, Gokhan Aygun, Birol Safak, Naim Mahroum","doi":"10.3390/diagnostics15101228","DOIUrl":"10.3390/diagnostics15101228","url":null,"abstract":"<p><p><b>Background:</b> If used in the right clinical context, PCRs carry great potential in rapidly diagnosing various infectious diseases. <b>Objectives:</b> We aimed to evaluate the clinical performance of four novel multiplex real-time PCR (qPCR) assays in the direct detection of pathogens in whole blood, cerebrospinal fluid, respiratory specimens, and stool samples. <b>Methods:</b> Spiked negative clinical specimens were used for the evaluation. Clinical samples for the comparative assessment of culture and molecular analyses were simultaneously examined. RINA^TM robotic nucleic acid isolation system and Bio-Speedy^® multiplex qPCR panels (Bioeksen R&D Technologies, Turkey), and the LightCycler^® 96 Instrument (Roche, USA) were used for the molecular testing. <b>Results:</b> No qPCR assays produced positive results for the samples spiked with the potential cross-reacting pathogens. The limit of detection (LOD) of the assays changed with the use of 10 and 100 pathogens/mL sample based on the target and sample type. The relative sensitivity and specificity of the assays were, respectively, 82% and 94% for blood, 97.1% and 99.3% for blood culture, 94% and 98% for stool, 96% and 97% for CSF, and 97% and 96% for respiratory specimens. <b>Conclusions:</b> The panels evaluated allow the direct molecular analysis of 10 samples from four clinical syndromes on the same run in 3 h with high clinical performance. The number and variety of samples in a single run enable healthcare providers to rapidly and efficiently diagnose and treat various infections.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 10","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12109757/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144157319","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":"Utilizing Shear Wave Elastography for the Evaluation of Ocular Involvement in Systemic Sclerosis.","authors":"Mehmet Kök, Ayşe Ayan, Mehmet Emin Arayici, Sinan Ülgen","doi":"10.3390/diagnostics15101227","DOIUrl":"10.3390/diagnostics15101227","url":null,"abstract":"<p><p><b>Background:</b> Several imaging studies have confirmed ocular involvement in systemic sclerosis (SSc). However, elastography has not yet been used for this purpose in the literature. Thus, this study aimed to evaluate ocular involvement in SSc using shear wave elastography (SWE). <b>Methods:</b> This study included 29 SSc patients and 30 age- and sex-matched healthy controls. All participants underwent independent ophthalmological evaluations by two ophthalmologists. Subsequently, SWE was used to evaluate the retina-choroid-sclera (RCS), optic disc (OD), optic nerve (ON), and retrobulbar adipose tissue (RBFT) of the right eye. The median shear wave elasticity (kPa) and velocity (m/s) values were automatically calculated using the ultrasound device's integrated software. <b>Results:</b> The elasticity and velocity values of RBFT in SSc patients were significantly higher than those in the control group. However, no notable differences were observed in other analyzed areas. A strong association was found between digital ulcers and velocity values of the RCS, while no significant differences were noted for other parameters. <b>Conclusions:</b> This study revealed increased stiffness in the RBFT of SSc patients. To our knowledge, this is the first evidence suggesting that SSc can affect RBFT. Further studies are required to confirm this finding and investigate its link to the disease. Additionally, we found a strong association between digital ulcers and increased RCS stiffness. Using SWE for the first time, we have demonstrated that microcirculatory disruption in SSc extends beyond the skin and can affect multiple tissues simultaneously.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 10","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12109592/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144157332","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":"Evaluation of Optimized Toluidine Blue Stain as an Alternative Stain for Rapid On-Site Evaluation (ROSE).","authors":"Alejandro S Mendoza, Alaa Afify, Lydia Howell, John Bishop, Aurelia Lauderdale, Stan Seko, Ronelson Hermosilla, Donald York, Kurt B Schaberg","doi":"10.3390/diagnostics15101223","DOIUrl":"10.3390/diagnostics15101223","url":null,"abstract":"<p><p><b>Background</b>: Rapid on-site evaluation (ROSE) is crucial for improving the diagnostic yield of fine-needle aspiration (FNA) biopsies. Despite recent advances in ROSE, such as telecytology, the rapid stains used in this process have not seen significant innovation. Diff-Quik (DQ) and Toluidine Blue (TB), the most common ROSE stains, have significant limitations. This study evaluates the optimized Toluidine Blue stain, a mixture of <b>T</b>oluidine Blue, <b>E</b>osin, and <b>A</b>lcohol (TEA), as a potential alternative to TB or DQ for ROSE. <b>Methods</b>: A comparative study was conducted using fifty remnant body fluid specimens with adequate cellularity, collected at the University of California Davis Medical Center over six months. Two smears were prepared from each specimen. One was stained with TB, and the other with optimized Toluidine Blue (TEA). Digital images of each slide were evaluated by three cytologists and two cytopathologists, blinded to the stain, using five criteria: background staining, cytoplasmic detail, nuclear membrane clarity, chromatin texture, and nucleoli staining. Each criterion was scored on a scale of 1 to 3. <b>Results</b>: Optimized Toluidine Blue (TEA) stain demonstrated superior overall image quality compared to TB. Specifically, optimized Toluidine Blue (TEA) showed significantly less background staining (<i>p</i> < 0.05) and improved nuclear membrane clarity (<i>p</i> < 0.05), chromatin texture (<i>p</i> < 0.05), and nucleoli detail (<i>p</i> < 0.05). There was no significant difference between the two stains in the assessment of cellularity or cytoplasmic detail. <b>Conclusions</b>: The optimized Toluidine Blue (TEA) stain shows promise as a rapid stain for ROSE, offering rapid processing and improved digital image quality. Further evaluation of optimized Toluidine Blue (TEA) stain on FNA specimens is warranted to validate these findings and explore its potential to enhance telecytology in ROSE.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 10","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12110221/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144157299","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":"Closing Editorial: Advancements in Artificial Intelligence for Dentomaxillofacial Radiology-Current Trends and Future Directions.","authors":"Kaan Orhan, Andre Luiz Ferreira Costa, Sérgio Lúcio Pereira de Castro Lopes","doi":"10.3390/diagnostics15101222","DOIUrl":"10.3390/diagnostics15101222","url":null,"abstract":"<p><p>Artificial intelligence (AI) continues to redefine diagnostic approaches across medical disciplines, and its impact on dentomaxillofacial radiology has increased exponentially in recent years [...].</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 10","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12110001/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144157289","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":"Surgical Outcomes of Gonioscopy-Assisted Transluminal Trabeculotomy (GATT) in Primary and Secondary Open- and Closed-Angle Glaucoma.","authors":"Liron Naftali Ben Haim, Veronika Yehezkeli, Assaf Kratz, Nimrod Dar, Tal Sharon, Gal Harel, Zvia Burganski-Eliash, Avner Belkin","doi":"10.3390/diagnostics15101226","DOIUrl":"10.3390/diagnostics15101226","url":null,"abstract":"<p><p><b>Background:</b> Gonioscopy-assisted transluminal trabeculotomy (GATT) is a minimally invasive, ab interno conjunctival-sparing glaucoma surgery aimed at the trabecular meshwork and the inner wall of Schlemm's canal. The goal of this study is to report on the success of GATT in a large group of patients with a wide variety of open- and closed-angle glaucomas with or without cataract extraction and to report on risk factors for failure. <b>Methods:</b> A retrospective chart review of consecutive patients with primary or secondary open- or closed-angle glaucoma who underwent GATT, with or without concomitant phacoemulsification. Demographics, baseline clinical characteristics, and postoperative outcomes were collected from patients' medical records. Primary outcomes were success rates (IOP of 18 mmHg or lower and one of the following: IOP reduction > 30% from baseline on the same or fewer medications or an IOP ≤ baseline with fewer medications as compared to baseline) and complication rates. Intraocular pressure (IOP) and the number of glaucoma medications were secondary outcome measures. <b>Results:</b> GATT was performed on 126 eyes of 121 patients. Mean follow-up was 583 ± 266 days. Cumulative success at 1Y was 0.88 for GATT combined with cataract extraction, 0.96 for GATT alone, 0.88 for primary open-angle glaucoma (POAG), 0.89 for secondary open-angle glaucoma (SOAG), and 0.76 for primary angle-closure glaucoma (PACG). IOP decreased from a mean of 20.65 mmHg to 14.1 mmHg, and medication decreased from a mean of 3.47 to 1.4 at the last follow-up. Forty-four eyes (34%) were classified as failures. Factors associated with an increased risk of failure were worse preoperative corrected visual acuity (OR = 2.46, <i>p</i> = 0.024) and a postoperative IOP spike (OR = 2.62, <i>p</i> = 0.028). Twelve eyes (9.5%) required further surgery for IOP control. Risk factors for requiring further surgery for IOP control were preoperative maximal IOP (OR = 1.066, <i>p</i> = 0.047) and a postoperative IOP spike (OR = 4.531, <i>p</i> = 0.036). <b>Conclusions:</b> GATT achieved good surgical success with good IOP and medication reduction across a wide range of glaucomas, in combination with lens extraction or as a standalone procedure. GATT should be considered early in the treatment paradigm of medically uncontrolled glaucoma.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 10","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12109802/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144157318","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":"Detection Rates of PSMA-PET Radiopharmaceuticals in Recurrent Prostate Cancer: A Systematic Review.","authors":"Soroush Rais-Bahrami, Phillip Davis, Albert Chau, Samuel J Galgano, Brian F Chapin, David M Schuster, Catriona M Turnbull","doi":"10.3390/diagnostics15101224","DOIUrl":"10.3390/diagnostics15101224","url":null,"abstract":"<p><p><b>Background/Objectives</b>: To conduct a systematic review to evaluate the detection rates (DR) of the three FDA-approved PSMA-targeted radiopharmaceuticals in patients with recurrent prostate cancer. <b>Methods</b>: Two individuals systematically searched MEDLINE, ScienceDirect, and Cochrane Libraries (February 2025), and independently reviewed all results to identify studies reporting patient-level ⁶⁸Ga-PSMA-11, ¹⁸F-DCFPyL, or ¹⁸F-flotufolastat DR in ≥100 evaluable patients with recurrent prostate cancer. Sample-weighted means (SWM) of extracted DR were calculated. <b>Results</b>: Of 5059 published articles, 37 met our inclusion criteria, reporting data from 8843 patients undergoing ⁶⁸Ga-PSMA-11 (<i>n</i> = 27), ¹⁸F-DCFPyL (<i>n</i> = 8), or ¹⁸F-flotufolastat (<i>n</i> = 2) studies. Heterogeneity was noted across enrolled populations, particularly in prior treatments. ⁶⁸Ga-PSMA-11 studies recruited patients with marginally higher median PSA than ¹⁸F-DCFPyL or ¹⁸F-flotufolastat studies (median PSA ranged from 0.1 to 10.7, 0.2-2.5, and 0.6-1.1, respectively). Reported overall DR ranged from 25 to 91% for ⁶⁸Ga-PSMA-11, 49-86% for ¹⁸F-DCFPyL, and 73-83% for ¹⁸F-flotufolastat, with SWM of 71%, 66%, and 79%, respectively. Post-prostatectomy DR were reported in 18 articles, resulting in SWM DR of 58% for ⁶⁸Ga-PSMA-11 (<i>n</i> = 12), 55% for ¹⁸F-DCFPyL (<i>n</i> = 4), and 76% for ¹⁸F-flotufolastat (<i>n</i> = 2). Among post-radiotherapy patients, SWM were 87% for ⁶⁸Ga-PSMA-11 (<i>n</i> = 4), 90% for ¹⁸F-DCFPyL (<i>n</i> = 2), and 99% for ¹⁸F-flotufolastat (<i>n</i> = 1). SWM DR at PSA < 1 ng/mL were 53%, 42%, and 66% for ⁶⁸Ga-PSMA-11 (<i>n</i> = 13), ¹⁸F-DCFPyL (<i>n</i> = 5), and ¹⁸F-flotufolastat (<i>n</i> = 2), respectively. <b>Conclusions</b>: Considerable heterogeneity exists across populations in studies of diagnostic PET radiopharmaceuticals. Despite a paucity of ¹⁸F-DCFPyL and ¹⁸F-flotufolastat studies compared with ⁶⁸Ga-PSMA-11, the available data suggest that all three radiopharmaceuticals provide high overall DR in patients with biochemical recurrence of prostate cancer.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 10","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12110065/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144157257","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":"Worldwide Impact of Upper Gastrointestinal Disease in Familial Adenomatous Polyposis.","authors":"Mahnur Haider, Muaaz Masood, Bryson W Katona, Carol A Burke, Gautam N Mankaney","doi":"10.3390/diagnostics15101218","DOIUrl":"10.3390/diagnostics15101218","url":null,"abstract":"<p><p>Familial adenomatous polyposis (FAP) is the most common hereditary colorectal adenomatous polyposis and cancer syndrome which has historically been associated with a near absolute risk of colorectal cancer. However, the morbidity and mortality from colorectal cancer has been greatly diminished by pre-symptomatic genetic testing which identifies affected individuals and by appropriately timed, risk-reducing surgery of the colorectum. Following colorectal surgery, cancer risk beyond the retained rectum or ileal pouch includes other gastrointestinal organs, especially those of the upper gastrointestinal tract. While genotype-phenotype correlations exist for the severity of colonic polyposis, they have not been demonstrated for upper gastrointestinal tract manifestations. We reviewed the impact of ethnicity on the upper gastrointestinal manifestations of FAP by a comparison of published data in patients with FAP from Asian and Western countries. Our main findings demonstrate that following risk-reducing surgery to mitigate colorectal cancer risk, patients with FAP remain at increased risk for upper gastrointestinal polyposis and cancer. The duodenal and gastric phenotype differs between patients with FAP from the West and the East, and all should be followed in a multidisciplinary surveillance program. Following risk-reducing surgery to mitigate colorectal cancer risk, patients with familial adenomatous polyposis remain at increased risk for upper gastrointestinal polyposis and cancer. The duodenal and gastric phenotype differs between patients with FAP from the West and the East, and all should be followed in a multidisciplinary surveillance program.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 10","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12109950/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144157371","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}