Pub Date : 2025-01-11DOI: 10.3390/diagnostics15020155
Zlata Rajkovic Pavlovic, Milos Stepovic, Marija Bubalo, Ivana Zivanovic Macuzic, Maja Vulovic, Nevena Folic, Jovana Milosavljevic, Valentina Opancina, Dobrivoje Stojadinovic
Background: This is a systematic review on the subject of anatomic landmarks and variations in the mandible that influence implantation placement. With this systematic review, we would like to summarize the results from different studies that are relevant to this subject and that are up to date, presenting their main findings, the measurements of mentioned landmarks, and giving clinical implications that will be helpful to practitioners in their better understanding of this topic. Methods: This study followed all of the elements of PRISMA. The criteria for inclusion and exclusion are described in detail. The following bibliographic databases were searched: PubMed (MEDLINE), The Cochrane Library, Wiley Online Library, EMBASE, and, additionally, Google Scholar. The search of articles was carried out using a combination of different keywords with a Boolean operator for each keyword. A total of 30 studies were included in this review and the risk of bias for each study was assessed. This review was registered with the PROSPERO ID number CRD42024609308. Results: The structure "SPIDER" was used to present the findings in the summation table, followed by a detailed description of the quantitative findings and overall mean values of the most commonly used measured points. The morphometric measurements of anatomic details and variations in the mandible, such as the mandibular canal, mental foramen, lingual foramina, lingual canal, incisive canal, and mandibular concavity, are of high significance for clinicians dealing with implantation where gender, ethnicity, age groups, the side of the mandible, or remaining teeth can influence implantation planning. Conclusions: The distances of the named anatomic landmarks to the surrounding bone structures that are used as a guide during planning are of huge importance, so proper and detailed measurements must be executed by experienced professionals using CBCT. Knowledge of the position and variation in these landmarks may be used for any bone-guided augmentation, surgical transpositions of anatomic landmarks, and surgery intervention planning. The results of this study can aid in choosing appropriate measurement points and give the gross picture, for clinicians, in therapy planning, considering all the landmarks of significance in the mandible.
{"title":"Anatomic Variations Important for Dental Implantation in the Mandible-A Systematic Review.","authors":"Zlata Rajkovic Pavlovic, Milos Stepovic, Marija Bubalo, Ivana Zivanovic Macuzic, Maja Vulovic, Nevena Folic, Jovana Milosavljevic, Valentina Opancina, Dobrivoje Stojadinovic","doi":"10.3390/diagnostics15020155","DOIUrl":"10.3390/diagnostics15020155","url":null,"abstract":"<p><p><b>Background</b>: This is a systematic review on the subject of anatomic landmarks and variations in the mandible that influence implantation placement. With this systematic review, we would like to summarize the results from different studies that are relevant to this subject and that are up to date, presenting their main findings, the measurements of mentioned landmarks, and giving clinical implications that will be helpful to practitioners in their better understanding of this topic. <b>Methods</b>: This study followed all of the elements of PRISMA. The criteria for inclusion and exclusion are described in detail. The following bibliographic databases were searched: PubMed (MEDLINE), The Cochrane Library, Wiley Online Library, EMBASE, and, additionally, Google Scholar. The search of articles was carried out using a combination of different keywords with a Boolean operator for each keyword. A total of 30 studies were included in this review and the risk of bias for each study was assessed. This review was registered with the PROSPERO ID number CRD42024609308. <b>Results</b>: The structure \"SPIDER\" was used to present the findings in the summation table, followed by a detailed description of the quantitative findings and overall mean values of the most commonly used measured points. The morphometric measurements of anatomic details and variations in the mandible, such as the mandibular canal, mental foramen, lingual foramina, lingual canal, incisive canal, and mandibular concavity, are of high significance for clinicians dealing with implantation where gender, ethnicity, age groups, the side of the mandible, or remaining teeth can influence implantation planning. <b>Conclusions</b>: The distances of the named anatomic landmarks to the surrounding bone structures that are used as a guide during planning are of huge importance, so proper and detailed measurements must be executed by experienced professionals using CBCT. Knowledge of the position and variation in these landmarks may be used for any bone-guided augmentation, surgical transpositions of anatomic landmarks, and surgery intervention planning. The results of this study can aid in choosing appropriate measurement points and give the gross picture, for clinicians, in therapy planning, considering all the landmarks of significance in the mandible.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 2","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11763380/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143037006","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}
Background/Objectives: The study aims to analyse the factors associated with positive margins and endoscopic understaging in laryngeal carcinoma. It also aims to assess the diagnostic accuracy of Narrow Band Imaging (NBI) in comparison to White Light Endoscopy (WLE) and other diagnostic methods. Methods: In this retrospective comparative cohort analysis, 206 patients who underwent endoscopic laser surgery for T1 and T2a glottic squamous cell carcinoma between 1 January 2016 and 30 April 2023 were included. The data were collected from endoscopy, CT, histopathology, and NBI images. Statistical analysis was performed and associations between variables were analysed using binary logistic regression and receiver operating characteristic analysis. Results: The types of cordectomy performed included type III (51 patients), type IV (40 patients), and type VI (23 patients). Positive margins were found in 14.01% of patients, with significant correlations observed between positive margins and bilateral laryngeal carcinoma, right-sided laryngeal carcinoma, higher clinical and histopathologic T categories, and higher NBI grade. Endoscopic understaging versus histopathologic T category correlated with various factors, including cordectomy type, tumour size, and clinical T category. The NBI findings correlated with positive margins but did not correlate with endoscopic understaging. Conclusions: The study highlights several clinical and pathological factors associated with positive margins and endoscopic understaging in laryngeal carcinoma. NBI demonstrated high diagnostic accuracy, correlating with histopathological results and serving as an independent predictive factor for positive margins. Recognizing these factors is crucial for improving preoperative assessments, refining treatment strategies, and enhancing patient care.
{"title":"Laryngeal Carcinoma Characteristics Associated with Positive Margins and Endoscopic Understaging.","authors":"Nia Labaš, Andro Košec, Mirta Peček, Tomislav Gregurić, Siniša Stevanović","doi":"10.3390/diagnostics15020150","DOIUrl":"10.3390/diagnostics15020150","url":null,"abstract":"<p><p><b>Background/Objectives</b>: The study aims to analyse the factors associated with positive margins and endoscopic understaging in laryngeal carcinoma. It also aims to assess the diagnostic accuracy of Narrow Band Imaging (NBI) in comparison to White Light Endoscopy (WLE) and other diagnostic methods. <b>Methods</b>: In this retrospective comparative cohort analysis, 206 patients who underwent endoscopic laser surgery for T1 and T2a glottic squamous cell carcinoma between 1 January 2016 and 30 April 2023 were included. The data were collected from endoscopy, CT, histopathology, and NBI images. Statistical analysis was performed and associations between variables were analysed using binary logistic regression and receiver operating characteristic analysis. <b>Results</b>: The types of cordectomy performed included type III (51 patients), type IV (40 patients), and type VI (23 patients). Positive margins were found in 14.01% of patients, with significant correlations observed between positive margins and bilateral laryngeal carcinoma, right-sided laryngeal carcinoma, higher clinical and histopathologic T categories, and higher NBI grade. Endoscopic understaging versus histopathologic T category correlated with various factors, including cordectomy type, tumour size, and clinical T category. The NBI findings correlated with positive margins but did not correlate with endoscopic understaging. <b>Conclusions</b>: The study highlights several clinical and pathological factors associated with positive margins and endoscopic understaging in laryngeal carcinoma. NBI demonstrated high diagnostic accuracy, correlating with histopathological results and serving as an independent predictive factor for positive margins. Recognizing these factors is crucial for improving preoperative assessments, refining treatment strategies, and enhancing patient care.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 2","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11763952/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143037586","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}
Background and Objectives: The aim of the present study was to calculate HALP and modified HALP scores for patients diagnosed with acute cholecystitis (AC) and to determine the predictive utility of these scores for surgical timing and morbidity in patients who underwent surgery for AC. Materials and Methods: This study included data from 641 patients who underwent surgery for AC between January 2010 and May 2023. The HALP score was calculated using the formula hemoglobin (g/L) × albumin (g/L) × lymphocyte (109/L)/platelets (109/L). The modified HALP score was calculated using the formula hemoglobin (g/L) × albumin (g/L) × lymphocyte (109/L) × platelets (109/L). Results: The mean HALP score was 46.81, and the mean modified HALP score was 2,758,401.21. Laparoscopic cholecystectomy (LC) was successfully completed in 582 (90.8%) patients. When examining the relationship between HALP and modified HALP scores and the procedure type, a statistically significant difference was found in the distribution of median HALP and modified HALP scores between the LC and laparoscopic and open cholecystectomy (LTOC) groups. For patients with a HALP score < 34.43 and modified HALP score < 2,077,019, the likelihood of conversion to open surgery increased, with a sensitivity of 65.5% vs. 58.8% and a specificity of 66.1% vs. 59.3%. In patients who underwent surgery, there was a significant difference in the LTOC between the HALP score and modified HALP score cut-off groups (p < 0.001 and, p = 0.007). Conclusions: Evaluation of the HALP score is a promising and valuable assessment method for designing appropriate treatment and management strategies for patients with AC.
{"title":"Predictive Utility of the HALP and Modified HALP Score for the Assessment of Operative Complications in Patients Undergoing Laparoscopic Cholecystectomy for Acute Cholecystitis.","authors":"Yasemin Keskin, Hakan Sevinç, Selçuk Mevlüt Hazinedaroğlu, Şevket Barış Morkavuk, Şiyar Ersöz","doi":"10.3390/diagnostics15020152","DOIUrl":"10.3390/diagnostics15020152","url":null,"abstract":"<p><p><b>Background and Objectives</b>: The aim of the present study was to calculate HALP and modified HALP scores for patients diagnosed with acute cholecystitis (AC) and to determine the predictive utility of these scores for surgical timing and morbidity in patients who underwent surgery for AC. <b>Materials and Methods</b>: This study included data from 641 patients who underwent surgery for AC between January 2010 and May 2023. The HALP score was calculated using the formula hemoglobin (g/L) × albumin (g/L) × lymphocyte (10<sup>9</sup>/L)/platelets (10<sup>9</sup>/L). The modified HALP score was calculated using the formula hemoglobin (g/L) × albumin (g/L) × lymphocyte (10<sup>9</sup>/L) × platelets (10<sup>9</sup>/L). <b>Results</b>: The mean HALP score was 46.81, and the mean modified HALP score was 2,758,401.21. Laparoscopic cholecystectomy (LC) was successfully completed in 582 (90.8%) patients. When examining the relationship between HALP and modified HALP scores and the procedure type, a statistically significant difference was found in the distribution of median HALP and modified HALP scores between the LC and laparoscopic and open cholecystectomy (LTOC) groups. For patients with a HALP score < 34.43 and modified HALP score < 2,077,019, the likelihood of conversion to open surgery increased, with a sensitivity of 65.5% vs. 58.8% and a specificity of 66.1% vs. 59.3%. In patients who underwent surgery, there was a significant difference in the LTOC between the HALP score and modified HALP score cut-off groups (<i>p</i> < 0.001 and, <i>p</i> = 0.007). <b>Conclusions</b>: Evaluation of the HALP score is a promising and valuable assessment method for designing appropriate treatment and management strategies for patients with AC.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 2","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11763695/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143037378","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}
Pub Date : 2025-01-10DOI: 10.3390/diagnostics15020148
Marta Zerunian, Tiziano Polidori, Federica Palmeri, Stefano Nardacci, Antonella Del Gaudio, Benedetta Masci, Giuseppe Tremamunno, Michela Polici, Domenico De Santis, Francesco Pucciarelli, Andrea Laghi, Damiano Caruso
Cholangiocarcinoma (CCA) is a malignant biliary system tumor and the second most common primary hepatic neoplasm, following hepatocellular carcinoma. CCA still has an extremely high unfavorable prognosis, regardless of type and location, and complete surgical resection remains the only curative therapeutic option; however, due to the underhanded onset and rapid progression of CCA, most patients present with advanced stages at first diagnosis, with only 30 to 60% of CCA patients eligible for surgery. Recent innovations in medical imaging combined with the use of radiomics and artificial intelligence (AI) can lead to improvements in the early detection, characterization, and pre-treatment staging of these tumors, guiding clinicians to make personalized therapeutic strategies. The aim of this review is to provide an overview of how radiological features of CCA can be analyzed through radiomics and with the help of AI for many different purposes, such as differential diagnosis, the prediction of lymph node metastasis, the defining of prognostic groups, and the prediction of early recurrence. The combination of radiomics with AI has immense potential. Still, its effectiveness in practice is yet to be validated by prospective multicentric studies that would allow for the development of standardized radiomics models.
{"title":"Artificial Intelligence and Radiomics in Cholangiocarcinoma: A Comprehensive Review.","authors":"Marta Zerunian, Tiziano Polidori, Federica Palmeri, Stefano Nardacci, Antonella Del Gaudio, Benedetta Masci, Giuseppe Tremamunno, Michela Polici, Domenico De Santis, Francesco Pucciarelli, Andrea Laghi, Damiano Caruso","doi":"10.3390/diagnostics15020148","DOIUrl":"10.3390/diagnostics15020148","url":null,"abstract":"<p><p>Cholangiocarcinoma (CCA) is a malignant biliary system tumor and the second most common primary hepatic neoplasm, following hepatocellular carcinoma. CCA still has an extremely high unfavorable prognosis, regardless of type and location, and complete surgical resection remains the only curative therapeutic option; however, due to the underhanded onset and rapid progression of CCA, most patients present with advanced stages at first diagnosis, with only 30 to 60% of CCA patients eligible for surgery. Recent innovations in medical imaging combined with the use of radiomics and artificial intelligence (AI) can lead to improvements in the early detection, characterization, and pre-treatment staging of these tumors, guiding clinicians to make personalized therapeutic strategies. The aim of this review is to provide an overview of how radiological features of CCA can be analyzed through radiomics and with the help of AI for many different purposes, such as differential diagnosis, the prediction of lymph node metastasis, the defining of prognostic groups, and the prediction of early recurrence. The combination of radiomics with AI has immense potential. Still, its effectiveness in practice is yet to be validated by prospective multicentric studies that would allow for the development of standardized radiomics models.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 2","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11763775/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143037125","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}
Pub Date : 2025-01-10DOI: 10.3390/diagnostics15020151
Olga Sysoeva, Rauf Akhmirov, Maria Zaichenko, Ivan Lazarenko, Anastasiya Rebik, Nadezhda Broshevitskaja, Inna Midzyanovskaya, Kirill Smirnov
Background/Objectives:: The link between serotonergic modulation and depression is under debate; however, serotonin reuptake inhibitors (SRIs) are still the first-choice medicine in this condition. Disturbances in time perception are also reported in depression with one of the behavioral schedules used to study interval timing, differential-reinforcement-learning-of-low-rate, having been shown to have high predictive validity for an antidepressant effect. Here, we introduce an IntelliCage research protocol of an interval bisection task that allows more ecologically valid and less time-consuming rodent examination and provides an example of its use to confirm the previously reported acute effect of an SRI, clomipramine, on interval timing (increase in bisection point, D50). Methods: Wistar male rats (n = 25, five groups of 5-8) were trained in the IntelliCage to discriminate between short (1 s) and long (4 s) LED light stimuli by nose poking at the corresponding (left/right) side of the IntelliCage chamber to obtain a drink. When 80% of correct responses were reached, the intermediate durations of 1.7, 2.5, and 3.3 s were introduced. The number of left/right choices for each stimulus and interval timing parameters (bisection point, D50, and timing precision), derived from them, were compared after saline and clomipramine (7 mg/kg, i.p) intraperitoneal administration. Results: Rats successfully learned the task within about a week of training. The slightly increased D50 after clomipramine confirmed previous studies. Conclusions: The introduced protocol has potential to be applicable to preclinical research on depression and potentially other psychopathology, where time perception can be disturbed.
{"title":"Time Perception Test in IntelliCage System for Preclinical Study: Linking Depression and Serotonergic Modulation.","authors":"Olga Sysoeva, Rauf Akhmirov, Maria Zaichenko, Ivan Lazarenko, Anastasiya Rebik, Nadezhda Broshevitskaja, Inna Midzyanovskaya, Kirill Smirnov","doi":"10.3390/diagnostics15020151","DOIUrl":"10.3390/diagnostics15020151","url":null,"abstract":"<p><p><b>Background/Objectives::</b> The link between serotonergic modulation and depression is under debate; however, serotonin reuptake inhibitors (SRIs) are still the first-choice medicine in this condition. Disturbances in time perception are also reported in depression with one of the behavioral schedules used to study interval timing, differential-reinforcement-learning-of-low-rate, having been shown to have high predictive validity for an antidepressant effect. Here, we introduce an IntelliCage research protocol of an interval bisection task that allows more ecologically valid and less time-consuming rodent examination and provides an example of its use to confirm the previously reported acute effect of an SRI, clomipramine, on interval timing (increase in bisection point, D50). <b>Methods:</b> Wistar male rats (<i>n</i> = 25, five groups of 5-8) were trained in the IntelliCage to discriminate between short (1 s) and long (4 s) LED light stimuli by nose poking at the corresponding (left/right) side of the IntelliCage chamber to obtain a drink. When 80% of correct responses were reached, the intermediate durations of 1.7, 2.5, and 3.3 s were introduced. The number of left/right choices for each stimulus and interval timing parameters (bisection point, D50, and timing precision), derived from them, were compared after saline and clomipramine (7 mg/kg, i.p) intraperitoneal administration. <b>Results</b>: Rats successfully learned the task within about a week of training. The slightly increased D50 after clomipramine confirmed previous studies. <b>Conclusions:</b> The introduced protocol has potential to be applicable to preclinical research on depression and potentially other psychopathology, where time perception can be disturbed.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 2","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11764329/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143037456","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}
Pub Date : 2025-01-10DOI: 10.3390/diagnostics15020153
Ömer Akgüller, Mehmet Ali Balcı, Gabriela Cioca
Background: Alzheimer's disease is a progressive neurological condition marked by a decline in cognitive abilities. Early diagnosis is crucial but challenging due to overlapping symptoms among impairment stages, necessitating non-invasive, reliable diagnostic tools. Methods: We applied information geometry and manifold learning to analyze grayscale MRI scans classified into No Impairment, Very Mild, Mild, and Moderate Impairment. Preprocessed images were reduced via Principal Component Analysis (retaining 95% variance) and converted into statistical manifolds using estimated mean vectors and covariance matrices. Geodesic distances, computed with the Fisher Information metric, quantified class differences. Graph Neural Networks, including Graph Convolutional Networks (GCN), Graph Attention Networks (GAT), and GraphSAGE, were utilized to categorize impairment levels using graph-based representations of the MRI data. Results: Significant differences in covariance structures were observed, with increased variability and stronger feature correlations at higher impairment levels. Geodesic distances between No Impairment and Mild Impairment (58.68, p<0.001) and between Mild and Moderate Impairment (58.28, p<0.001) are statistically significant. GCN and GraphSAGE achieve perfect classification accuracy (precision, recall, F1-Score: 1.0), correctly identifying all instances across classes. GAT attains an overall accuracy of 59.61%, with variable performance across classes. Conclusions: Integrating information geometry, manifold learning, and GNNs effectively differentiates AD impairment stages from MRI data. The strong performance of GCN and GraphSAGE indicates their potential to assist clinicians in the early identification and tracking of Alzheimer's disease progression.
{"title":"Information Geometry and Manifold Learning: A Novel Framework for Analyzing Alzheimer's Disease MRI Data.","authors":"Ömer Akgüller, Mehmet Ali Balcı, Gabriela Cioca","doi":"10.3390/diagnostics15020153","DOIUrl":"10.3390/diagnostics15020153","url":null,"abstract":"<p><p><b>Background</b>: Alzheimer's disease is a progressive neurological condition marked by a decline in cognitive abilities. Early diagnosis is crucial but challenging due to overlapping symptoms among impairment stages, necessitating non-invasive, reliable diagnostic tools. <b>Methods</b>: We applied information geometry and manifold learning to analyze grayscale MRI scans classified into No Impairment, Very Mild, Mild, and Moderate Impairment. Preprocessed images were reduced via Principal Component Analysis (retaining 95% variance) and converted into statistical manifolds using estimated mean vectors and covariance matrices. Geodesic distances, computed with the Fisher Information metric, quantified class differences. Graph Neural Networks, including Graph Convolutional Networks (GCN), Graph Attention Networks (GAT), and GraphSAGE, were utilized to categorize impairment levels using graph-based representations of the MRI data. <b>Results</b>: Significant differences in covariance structures were observed, with increased variability and stronger feature correlations at higher impairment levels. Geodesic distances between No Impairment and Mild Impairment (58.68, p<0.001) and between Mild and Moderate Impairment (58.28, p<0.001) are statistically significant. GCN and GraphSAGE achieve perfect classification accuracy (precision, recall, F1-Score: 1.0), correctly identifying all instances across classes. GAT attains an overall accuracy of 59.61%, with variable performance across classes. <b>Conclusions</b>: Integrating information geometry, manifold learning, and GNNs effectively differentiates AD impairment stages from MRI data. The strong performance of GCN and GraphSAGE indicates their potential to assist clinicians in the early identification and tracking of Alzheimer's disease progression.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 2","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11763731/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143037584","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}
Pub Date : 2025-01-10DOI: 10.3390/diagnostics15020149
Giulia Trastulli, Giulia Calvino, Bruno Papasergi, Domenica Megalizzi, Cristina Peconi, Stefania Zampatti, Claudia Strafella, Carlo Caltagirone, Emiliano Giardina, Raffaella Cascella
Background/Objectives: Centralizing genetic sequencing in specialized facilities is pivotal for reducing the costs associated with diagnostic testing. These centers must be able to verify data quality and ensure sample integrity. This study aims at developing a protocol for tracking NGS-analyzed samples to prevent errors and mix-ups, ensuring proper quality control, accuracy, and reliability in genetic testing procedures. To this purpose, a protocol based on the genotyping of a panel of 60 single-nucleotide polymorphisms (SNPs) by OpenArrayTM technology was employed. Methods: The protocol was initially tested on a cohort of 758 samples and subsequently validated on a cohort of 100 samples. Furthermore, its ability to accurately detect identical and different samples was evaluated through a simulation test conducted on an additional 100 samples. Results: In total, 55 probes achieved a call rate ≥90% and were subjected to the sample matching process performed by an R tool specifically developed. The SNP panel achieved a random match probability of 3.29 × 10-15, proving its suitability for efficiently tracking samples and rapidly identifying any errors or mix-up during the analytical processing. Conclusions: The features of OpenArrayTM technology, cost-effectiveness, rapid analysis, and high discriminative power make it a suitable tool for sample tracking. In conclusion, this method represents a valuable example for promoting laboratory centralization and minimizing the risks related to different laboratory procedures and the management of a high number of samples.
{"title":"Sample Tracking Tool: A Comprehensive Approach Based on OpenArray Technology and R Scripting for Genomic Sample Monitoring.","authors":"Giulia Trastulli, Giulia Calvino, Bruno Papasergi, Domenica Megalizzi, Cristina Peconi, Stefania Zampatti, Claudia Strafella, Carlo Caltagirone, Emiliano Giardina, Raffaella Cascella","doi":"10.3390/diagnostics15020149","DOIUrl":"10.3390/diagnostics15020149","url":null,"abstract":"<p><p><b>Background/Objectives</b>: Centralizing genetic sequencing in specialized facilities is pivotal for reducing the costs associated with diagnostic testing. These centers must be able to verify data quality and ensure sample integrity. This study aims at developing a protocol for tracking NGS-analyzed samples to prevent errors and mix-ups, ensuring proper quality control, accuracy, and reliability in genetic testing procedures. To this purpose, a protocol based on the genotyping of a panel of 60 single-nucleotide polymorphisms (SNPs) by OpenArray<sup>TM</sup> technology was employed. <b>Methods</b>: The protocol was initially tested on a cohort of 758 samples and subsequently validated on a cohort of 100 samples. Furthermore, its ability to accurately detect identical and different samples was evaluated through a simulation test conducted on an additional 100 samples. <b>Results</b>: In total, 55 probes achieved a call rate ≥90% and were subjected to the sample matching process performed by an R tool specifically developed. The SNP panel achieved a random match probability of 3.29 × 10<sup>-15</sup>, proving its suitability for efficiently tracking samples and rapidly identifying any errors or mix-up during the analytical processing. <b>Conclusions</b>: The features of OpenArray<sup>TM</sup> technology, cost-effectiveness, rapid analysis, and high discriminative power make it a suitable tool for sample tracking. In conclusion, this method represents a valuable example for promoting laboratory centralization and minimizing the risks related to different laboratory procedures and the management of a high number of samples.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 2","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11763353/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143037537","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}
Pub Date : 2025-01-10DOI: 10.3390/diagnostics15020147
Francesco Pignatelli, Alfredo Niro, Giuseppe Addabbo, Pasquale Viggiano, Giacomo Boscia, Maria Oliva Grassi, Francesco Boscia, Cristiana Iaculli, Giulia Maria Emilia Clima, Antonio Barone, Ermete Giancipoli
Background: In this study, we evaluated the incidence of cystoid macular edema (CME) after pars plana vitrectomy (PPV) for different retinal pathologies and assessed the role of optical coherence tomography (OCT) biomarkers in guiding treatment decisions in post-surgical CME patients who were refractory to medical therapy over a follow-up period of 12 months. Methods: Medical records of consecutive pseudophakic patients, who underwent PPV for different retinal pathologies, were retrospectively evaluated in this single-center, uncontrolled study. The incidence of post-PPV CME was assessed. Eyes with post-PPV CME in the first 2 months after surgery, with available clinical and OCT data for 12 months after surgery, were included in the evaluation. The mean best-corrected visual acuity (BCVA; logMAR), mean central macular thickness (CMT; μm) change, and response to different treatments [medical therapy and intravitreal dexamethasone (DEX) implant] were evaluated 1, 3, 6, 9, and 12 months after PPV. The impact of OCT biomarkers on the exposure to DEX implants was assessed. Adverse events, potentially related to the treatment, were investigated as well. Results: Of the 346 pseudophakic patients (352 eyes) who participated in this study, 54 (54 eyes) developed CME within the first 2 months after PPV (incidence of 15.3%). Among them, 48 patients were deemed eligible for the 12-month analysis. Preoperative mean BCVA (1.44 ± 0.99 logMAR) significantly improved to 0.32 ± 0.37 logMAR after 12 months (p < 0.001). The mean baseline CMT of 347 (±123.5) μm significantly decreased to 290 μm (±80.4; p = 0.003) by the end of the follow-up. Twenty-five eyes (52%) required one or more DEX implants for CME, due to being refractory to topical therapy. Significant correlations were found between the mean CMT values at various time points. Additionally, patients who required DEX implants at months 3 and 9 were more likely to present intraretinal fluid (IRF), disorganization of inner retinal layers (DRIL), disorganization of outer retinal layers (DROL), and hyper-reflective foci (HRF) at 1-month OCT. Five patients experienced a slight increase in intraocular pressure (IOP), which was successfully managed with topical medication. Conclusions: Topical therapy alone can be a valuable option for post-PPV CME in approximately 50% of patients. Significant visual recovery and macular thickness reduction at 12 months demonstrated that DEX implants can be a safe and effective second-line treatment for pseudophakic patients with post-PPV CME and who are refractory to medical therapy. Early post-surgical OCT biomarkers may indicate a more severe CME that might benefit from the steroid implant.
{"title":"Twelve-Month Outcomes and Optical Coherence Tomography (OCT) Biomarkers After Intravitreal Dexamethasone Implantation in Pseudophakic Eyes with Post-Vitrectomy Cystoid Macular Edema (CME)-Refractory to Medical Therapy.","authors":"Francesco Pignatelli, Alfredo Niro, Giuseppe Addabbo, Pasquale Viggiano, Giacomo Boscia, Maria Oliva Grassi, Francesco Boscia, Cristiana Iaculli, Giulia Maria Emilia Clima, Antonio Barone, Ermete Giancipoli","doi":"10.3390/diagnostics15020147","DOIUrl":"10.3390/diagnostics15020147","url":null,"abstract":"<p><p><b>Background</b>: In this study, we evaluated the incidence of cystoid macular edema (CME) after pars plana vitrectomy (PPV) for different retinal pathologies and assessed the role of optical coherence tomography (OCT) biomarkers in guiding treatment decisions in post-surgical CME patients who were refractory to medical therapy over a follow-up period of 12 months. <b>Methods</b>: Medical records of consecutive pseudophakic patients, who underwent PPV for different retinal pathologies, were retrospectively evaluated in this single-center, uncontrolled study. The incidence of post-PPV CME was assessed. Eyes with post-PPV CME in the first 2 months after surgery, with available clinical and OCT data for 12 months after surgery, were included in the evaluation. The mean best-corrected visual acuity (BCVA; logMAR), mean central macular thickness (CMT; μm) change, and response to different treatments [medical therapy and intravitreal dexamethasone (DEX) implant] were evaluated 1, 3, 6, 9, and 12 months after PPV. The impact of OCT biomarkers on the exposure to DEX implants was assessed. Adverse events, potentially related to the treatment, were investigated as well. <b>Results</b>: Of the 346 pseudophakic patients (352 eyes) who participated in this study, 54 (54 eyes) developed CME within the first 2 months after PPV (incidence of 15.3%). Among them, 48 patients were deemed eligible for the 12-month analysis. Preoperative mean BCVA (1.44 ± 0.99 logMAR) significantly improved to 0.32 ± 0.37 logMAR after 12 months (<i>p</i> < 0.001). The mean baseline CMT of 347 (±123.5) μm significantly decreased to 290 μm (±80.4; <i>p</i> = 0.003) by the end of the follow-up. Twenty-five eyes (52%) required one or more DEX implants for CME, due to being refractory to topical therapy. Significant correlations were found between the mean CMT values at various time points. Additionally, patients who required DEX implants at months 3 and 9 were more likely to present intraretinal fluid (IRF), disorganization of inner retinal layers (DRIL), disorganization of outer retinal layers (DROL), and hyper-reflective foci (HRF) at 1-month OCT. Five patients experienced a slight increase in intraocular pressure (IOP), which was successfully managed with topical medication. <b>Conclusions</b>: Topical therapy alone can be a valuable option for post-PPV CME in approximately 50% of patients. Significant visual recovery and macular thickness reduction at 12 months demonstrated that DEX implants can be a safe and effective second-line treatment for pseudophakic patients with post-PPV CME and who are refractory to medical therapy. Early post-surgical OCT biomarkers may indicate a more severe CME that might benefit from the steroid implant.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 2","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11764373/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143036896","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}
Pub Date : 2025-01-09DOI: 10.3390/diagnostics15020142
Omer Abdelgadir, Yong-Fang Kuo, Anthony O Okorodudu, M Firoze Khan, Yu-Wei Cheng, Jianli Dong
Background/Objective: Studies have shown an association between colorectal cancer (CRC) sidedness and gene mutations that may affect CRC clinical behavior. This study examined the association between specific KRAS, NRAS, and BRAF hot-spot mutations and primary CRC sidedness. Methods: We performed a retrospective cohort analysis of 722 patients diagnosed with primary CRC and tested for KRAS, NRAS, and BRAF hot-spot mutations at the University of Texas Medical Branch (UTMB) from January 2016 through July 2023. Multivariable logistic regressions analyses were conducted. Results:KRAS, NRAS, and BRAF hot-spot mutations rates were 37.8%, 4.6%, and 6.1%, respectively. Right-sided primary CRC had the highest prevalence of mutated tumors (64%). KRAS and BRAF hot-spot mutations were significantly different according to tumor sidedness. KRAS p.Gly12Asp, p.Gly12Val, and p.Gly13Asp showed a significantly increased likelihood of right-sided primary CRC compared to KRAS wildtype, 128%, 134%, and 221% higher, respectively. Conversely, KRAS p.Gly12Val and p.Gly13Asp mutations were associated with decreased likelihood of rectal cancer (53% lower) and left-sided tumors (56% lower), respectively. BRAF p.Val600Glu mutation, as opposed to BRAF wildtype, was associated with a 278% higher likelihood of right-sided CRC. No significant associations were observed between NRAS mutations and primary CRC sidedness. Conclusions: In primary CRC, specific mutations in KRAS (p.Gly12Asp, p.Gly12Val, and p.Gly13Asp) and BRAF p.Val600Glu were associated with increased likelihood of right-sided tumors. KRAS p.Gly12Val and p.Gly13Asp mutations were associated with decreased likelihood of rectal cancer and left-sided tumors, respectively. These findings suggest that tumorigenesis and mutational processes differ based on tumor sidedness. Further studies are needed to substantiate these findings.
{"title":"<i>KRAS</i>, <i>NRAS</i>, and <i>BRAF</i> Hot-Spot Mutations in Relation to Sidedness of Primary Colorectal Cancer: A Retrospective Cohort Study.","authors":"Omer Abdelgadir, Yong-Fang Kuo, Anthony O Okorodudu, M Firoze Khan, Yu-Wei Cheng, Jianli Dong","doi":"10.3390/diagnostics15020142","DOIUrl":"10.3390/diagnostics15020142","url":null,"abstract":"<p><p><b>Background/Objective:</b> Studies have shown an association between colorectal cancer (CRC) sidedness and gene mutations that may affect CRC clinical behavior. This study examined the association between specific <i>KRAS</i>, <i>NRAS</i>, and <i>BRAF</i> hot-spot mutations and primary CRC sidedness. <b>Methods:</b> We performed a retrospective cohort analysis of 722 patients diagnosed with primary CRC and tested for <i>KRAS</i>, <i>NRAS</i>, and <i>BRAF</i> hot-spot mutations at the University of Texas Medical Branch (UTMB) from January 2016 through July 2023. Multivariable logistic regressions analyses were conducted. <b>Results:</b><i>KRAS</i>, <i>NRAS</i>, and <i>BRAF</i> hot-spot mutations rates were 37.8%, 4.6%, and 6.1%, respectively. Right-sided primary CRC had the highest prevalence of mutated tumors (64%). <i>KRAS</i> and <i>BRAF</i> hot-spot mutations were significantly different according to tumor sidedness. <i>KRAS</i> p.Gly12Asp, p.Gly12Val, and p.Gly13Asp showed a significantly increased likelihood of right-sided primary CRC compared to <i>KRAS</i> wildtype, 128%, 134%, and 221% higher, respectively. Conversely, <i>KRAS</i> p.Gly12Val and p.Gly13Asp mutations were associated with decreased likelihood of rectal cancer (53% lower) and left-sided tumors (56% lower), respectively. <i>BRAF</i> p.Val600Glu mutation, as opposed to <i>BRAF</i> wildtype, was associated with a 278% higher likelihood of right-sided CRC. No significant associations were observed between <i>NRAS</i> mutations and primary CRC sidedness. <b>Conclusions:</b> In primary CRC, specific mutations in <i>KRAS</i> (p.Gly12Asp, p.Gly12Val, and p.Gly13Asp) and <i>BRAF</i> p.Val600Glu were associated with increased likelihood of right-sided tumors. <i>KRAS</i> p.Gly12Val and p.Gly13Asp mutations were associated with decreased likelihood of rectal cancer and left-sided tumors, respectively. These findings suggest that tumorigenesis and mutational processes differ based on tumor sidedness. Further studies are needed to substantiate these findings.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 2","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11763696/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143037528","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}
Pub Date : 2025-01-09DOI: 10.3390/diagnostics15020138
Sunao Tanaka, Kaoru Murakami, Toru Sakatani, Riko Lee, Wayne Hogrefe, Fernando Siguencia, Charles J Rosser, Hideki Furuya
Background/Objectives: Urinalysis accuracy requires reliable sample stability that is dependent on the chosen collection and storage conditions. The multiplex Oncuria bladder cancer immunoassay currently needs urine samples stored at 4 °C until analysis, which requires more effort, equipment, and workflow than storing samples at room temperature. Thus, successful sample storage at room temperature (20 °C) may reduce laboratory handling time and expenses. This study evaluated whether different voided urine sample collection and storage parameters affected subsequent biomarker analysis with Oncuria. The Oncuria simultaneously quantifies 10 protein analytes in urine to generate a bladder cancer diagnostic signature. Methods: Samples were stored at varied temperatures (20 °C, 4 °C, -20 °C) for up to 1 month. The effects of adding two commercial urine sample stabilizers and antibiotics (trimethoprim) were also assessed. Subsequently, multiple potential biospecimen stabilizers were tested in urine samples and evaluated with Oncuria in hopes of allowing the urine sample to remain at room temperature for extended periods of time. Results: First, it was demonstrated that voided urine samples stored at room temperate without such stabilizers had different levels of the 10 analytes associated with the Oncuria test compared to voided urine samples stored at 4 °C. Next, we evaluated the effects of commercially available biospecimen stabilizers. Despite the addition of these stabilizers, the levels of the 10 analytes were altered when the samples were stored at room temperature for prolonged periods of time. Therefore, we could not identify a suitable biospecimen stabilizer that would not require sample refrigeration. Conclusions: To minimize sample degradation/alteration after collection, voided urine samples should be refrigerated until analyzed with Oncuria as the refrigeration is advantageous for the storage and the transport of these urine samples.
{"title":"Effects of Different Voided Urine Sample Storage Time, Temperature, and Preservatives on Analysis with Multiplex Bead-Based Oncuria Bladder Cancer Immunoassay.","authors":"Sunao Tanaka, Kaoru Murakami, Toru Sakatani, Riko Lee, Wayne Hogrefe, Fernando Siguencia, Charles J Rosser, Hideki Furuya","doi":"10.3390/diagnostics15020138","DOIUrl":"10.3390/diagnostics15020138","url":null,"abstract":"<p><p><b>Background/Objectives:</b> Urinalysis accuracy requires reliable sample stability that is dependent on the chosen collection and storage conditions. The multiplex Oncuria bladder cancer immunoassay currently needs urine samples stored at 4 °C until analysis, which requires more effort, equipment, and workflow than storing samples at room temperature. Thus, successful sample storage at room temperature (20 °C) may reduce laboratory handling time and expenses. This study evaluated whether different voided urine sample collection and storage parameters affected subsequent biomarker analysis with Oncuria. The Oncuria simultaneously quantifies 10 protein analytes in urine to generate a bladder cancer diagnostic signature. <b>Methods</b>: Samples were stored at varied temperatures (20 °C, 4 °C, -20 °C) for up to 1 month. The effects of adding two commercial urine sample stabilizers and antibiotics (trimethoprim) were also assessed. Subsequently, multiple potential biospecimen stabilizers were tested in urine samples and evaluated with Oncuria in hopes of allowing the urine sample to remain at room temperature for extended periods of time. <b>Results</b>: First, it was demonstrated that voided urine samples stored at room temperate without such stabilizers had different levels of the 10 analytes associated with the Oncuria test compared to voided urine samples stored at 4 °C. Next, we evaluated the effects of commercially available biospecimen stabilizers. Despite the addition of these stabilizers, the levels of the 10 analytes were altered when the samples were stored at room temperature for prolonged periods of time. Therefore, we could not identify a suitable biospecimen stabilizer that would not require sample refrigeration. <b>Conclusions</b>: To minimize sample degradation/alteration after collection, voided urine samples should be refrigerated until analyzed with Oncuria as the refrigeration is advantageous for the storage and the transport of these urine samples.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 2","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11763964/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143036948","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}