Journal of Personalized Medicine最新文献

{"title":"Expanding the Genetic and Clinical Spectrum of Hereditary Transthyretin Amyloidosis: The Glu61Ala Variant.","authors":"Christian Messina, Salvatore Gulizia, Federica Scalia, Eugenia Borgione, Francesco Cappello, Filippo Brighina, Vincenzo Di Stefano","doi":"10.3390/jpm15020061","DOIUrl":"10.3390/jpm15020061","url":null,"abstract":"<p><p><b>Introduction.</b> Hereditary transthyretin amyloidosis (hATTR) is a rare disorder with a largely variable worldwide prevalence, and it is caused by autosomal dominant mutations in the transthyretin (<i>TTR</i>) gene, leading to cardiological, neurological, or mixed phenotypes. Apart from the Glu89Gln, Phe64Leu, and Thr49Ala variants, recently, other mutations of <i>TTR</i> gene have been reported in Sicily (His90Asn, Val122Ile, Ser77Phe, Val20Ala). With this paper, we describe a novel mutation in the <i>TTR</i> gene, the Glu61Ala variant, which had been previously reported in only one case with a cardiac phenotype, and the clinical findings surrounding it. <b>Materials and Methods.</b> One individual affected by chronic idiopathic polyneuropathy and a major red flag for hATTR underwent genetic testing to look for mutations in the <i>TTR</i> gene. Then, his relatives were subjected to the same test. We assessed the anamnestic profile and conducted general and neurological examination, blood tests, nerve conduction studies (NCS), electrocardiogram, and Sudoscan for each patient. Written informed consent was acquired for every patient. <b>Results.</b> Among 7 patients screened, 5 patients carried the Glu61Ala variant (71%). The mean age was 64.6 ± 10.2 years, whereas the mean age at onset was 59.4 ± 7.9 years. In our study, three patients (60%) showed a mixed phenotype, whereas two of them (40%) showed a neurological phenotype. <b>Discussion.</b> The Glu61Ala variant was reported only in one case with a cardiological phenotype, but our patients showed both neurological and cardiological involvement. Further studies are needed to improve knowledge of this genetic variant.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 2","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11856758/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143492519","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":"The Design and Feasibility of Optimal Treatment for Coronary Drug-Eluting Stent In-Stent Restenosis (OPEN-ISR)-A Prospective, Randomised, Multicentre Clinical Trial.","authors":"Péter Márton Kulyassa, Balázs Tamás Németh, István Hizoh, Laura Krisztina Jankó, Zoltán Ruzsa, Zoltán Jambrik, Brúnó Bánk Balázs, Dávid Becker, Béla Merkely, István Ferenc Édes","doi":"10.3390/jpm15020060","DOIUrl":"10.3390/jpm15020060","url":null,"abstract":"<p><p><b>Introduction:</b> Percutaneous coronary intervention (PCI) with drug-eluting stents (DES) is a cornerstone of the management of ischemic heart disease. However, in-stent restenosis (ISR) remains a significant clinical challenge, occurring in approximately 5-10% of patients undergoing PCI. This study is designed to compare the efficacy and safety of the primary therapeutic approaches for DES-ISR, specifically drug-coated balloons (DCBs)-paclitaxel-coated balloons (PCBs) and sirolimus-coated balloons (SCBs)-with a new-generation everolimus-eluting stent (EES), contributing to the evolving field of personalized medicine. <b>Methods and Analysis:</b> This prospective, multicentre, randomised, non-inferiority trial aims to enroll 150 patients with DES-ISR, who will be randomised into one of the following: SCB, PCB, or EES. The primary endpoint comparing DCB and EES is late lumen loss (LLL) at 6 months, as measured by quantitative coronary angiography (QCA). Secondary endpoints comparing the three arms include a device-oriented composite endpoint, intraluminal gain, optical coherence tomography (OCT) measured LLL, and correlations between LLL and quantitative flow ratio (QFR). The primary endpoint will be analysed using a non-inferiority design, with a margin set at 0.25 mm, for which the sample size was calculated. Statistical analysis of the primary endpoint will be conducted on an intention-to-treat basis with a one-tailed Mann-Whitney U test with a significance level of 95. Secondary endpoints will be analysed via superiority testing using ANOVA, the Kruskal-Wallis test, logistic regression, or Fisher's exact test, as appropriate. <b>Ethics and Dissemination:</b> The study protocol has been approved by the Medical Devices Department of the Hungarian National Institute of Pharmacy and Nutrition, ensuring compliance with ethical standards as outlined in the Declaration of Helsinki. All investigators declare no conflicts of interest related to this study. The trial is registered in ClinicalTrials.gov under the ID: NCT04862052.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 2","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11856948/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143492479","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":"Towards Trustworthy AI in Healthcare: Epistemic Uncertainty Estimation for Clinical Decision Support.","authors":"Adrian Lindenmeyer, Malte Blattmann, Stefan Franke, Thomas Neumuth, Daniel Schneider","doi":"10.3390/jpm15020058","DOIUrl":"10.3390/jpm15020058","url":null,"abstract":"<p><p><b>Introduction:</b> Widespread adoption of AI for medical decision-making is still hindered due to ethical and safety-related concerns. For AI-based decision support systems in healthcare settings, it is paramount to be reliable and trustworthy. Common deep learning approaches, however, have the tendency towards overconfidence when faced with unfamiliar or changing conditions. Inappropriate extrapolation beyond well-supported scenarios may have dire consequences highlighting the importance of the reliable estimation of local knowledge uncertainty and its communication to the end user. <b>Materials and Methods:</b> While neural network ensembles (ENNs) have been heralded as a potential solution to these issues for many years, deep learning methods, specifically modeling the amount of knowledge, promise more principled and reliable behavior. This study compares their reliability in clinical applications. We centered our analysis on experiments with low-dimensional toy datasets and the exemplary case study of mortality prediction for intensive care unit hospitalizations using Electronic Health Records (EHRs) from the MIMIC3 study. For predictions on the EHR time series, Encoder-Only Transformer models were employed. Knowledge uncertainty estimation is achieved with both ensemble and Spectral Normalized Neural Gaussian Process (SNGP) variants of the common Transformer model. We designed two datasets to test their reliability in detecting token level and more subtle discrepancies both for toy datasets and an EHR dataset. <b>Results:</b> While both SNGP and ENN model variants achieve similar prediction performance (AUROC: ≈0.85, AUPRC: ≈0.52 for in-hospital mortality prediction from a selected MIMIC3 benchmark), the former demonstrates improved capabilities to quantify knowledge uncertainty for individual samples/patients. <b>Discussion/Conclusions:</b> Methods including a knowledge model, such as SNGP, offer superior uncertainty estimation compared to traditional stochastic deep learning, leading to more trustworthy and safe clinical decision support.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 2","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11856777/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143492492","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":"Precision Oncology in Clinical Practice: Two Years of Comprehensive Genomic Profiling in Croatia.","authors":"Dora Čerina Pavlinović, Jelena Šuto Pavičić, Antonela Njavro, Nikša Librenjak, Ilijan Tomaš, Robert Šeparović, Stjepko Pleština, Žarko Bajić, Natalija Dedić Plavetić, Eduard Vrdoljak","doi":"10.3390/jpm15020059","DOIUrl":"10.3390/jpm15020059","url":null,"abstract":"<p><p><b>Background:</b> The widespread adoption of precision medicine in routine cancer care remains a critical challenge, even as advanced technologies expand and personalized therapies demonstrate remarkable success in certain cancer types. While breakthrough innovations in targeted treatments have revolutionized outcomes for specific cancers, translating these scientific advances into standard clinical practice continues to be an evolving and complex endeavor. Croatia has a nationwide project of precision oncology through the comprehensive genomic profiling (CGP) analysis. Since collecting and analyzing real-world data is crucial for clinical research and defining the value of CGP in precision oncology, we aimed to present the data from everyday clinical practice given the opportunities and challenges we faced. <b>Methods</b>: This was a retrospective observational study conducted at the national level in all patients whose tumor samples were subjected to CGP between 1 January 2020 and 31 December 2021. <b>Results</b>: In total, 481 patients with CGP results were included in this study. Gastrointestinal and reproductive malignancies were the most common, accounting for 29.1% and 28.9% of all tested tumors, respectively. Specifically, colorectal tumors made up 19.1% of cases, while uterine tumors represented 11.2%. At least one clinically relevant genomic alteration was found in 76.7% of patients, with the KRAS mutation (27.2%) being the most common. During the two-year study period, 26,709 individuals lost their lives to cancer in Croatia. Combining this with the CGP selection criteria valid at the time, there was an estimated population of approximately 13,350 potentially eligible patients for the CGP analysis, meaning that only 3.6% of potentially eligible patients were tested. <b>Conclusions</b>: The analysis identified clinically actionable genomic alterations in approximately 80% of the evaluated patients, suggesting they could be candidates for targeted therapeutic interventions. The adoption of CGP remains limited, with estimates indicating that under 5% of metastatic cancer patients received testing in the initial two-year implementation period, despite established national insurance coverage guidelines. This low utilization rate suggests a significant gap in access to genomic testing, leaving many eligible cancer patients without the potential benefits of this diagnostic approach.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 2","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11856208/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143492457","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":"Mineralocorticoid Receptor Antagonists and Cognitive Outcomes in Cardiovascular Disease and Beyond: A Systematic Review.","authors":"Paola Pastena, Gabriele Campagnoli, Ali Reza Rahmani, Andreas P Kalogeropoulos","doi":"10.3390/jpm15020057","DOIUrl":"10.3390/jpm15020057","url":null,"abstract":"<p><p><b>Background/Objectives:</b> Cognitive impairment is a debilitating comorbidity affecting diverse patient populations, yet the cognitive effects of therapies like mineralocorticoid receptor antagonists (MRAs) remain underexplored. Preclinical evidence suggests that MRAs, particularly spironolactone, may reduce cognitive decline by modulating aldosterone-dependent pathways and targeting hippocampal receptors. However, evidence in humans is fragmented, and no systematic review has consolidated these findings. This review evaluates the cognitive effects of MRAs, synthesizes current data, and identifies research gaps. <b>Methods:</b> A literature search using terms related to MRAs and cognitive outcomes was performed in PubMed and Web of Science from 1979 to 2023. A total of 143 articles were identified and 85 were screened after removing duplicates. Ultimately, 44 studies were included and were classified based on study design and population focus (preclinical, healthy controls, patients with psychiatric disorders, and cardiovascular patients). <b>Results:</b> Spironolactone demonstrated mixed effects on cognition. In healthy participants, it improved spatial memory under stress and prevented stress-related suppression of medial temporal activity, but impaired working memory and selective attention. In patients with psychiatric conditions, spironolactone reduced cognitive empathy deficits in major depressive disorder and improved working memory in bipolar I disorder. In cardiovascular patients, spironolactone improved cognitive scores and hippocampal memory but had no effect on non-hippocampal memory. <b>Conclusions:</b> Spironolactone exhibits potential cognitive benefits across diverse populations. However, its effects on cognition are mixed, highlighting the need for further research to understand its mechanisms and therapeutic potential, particularly in patients with heart failure and other related conditions.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 2","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11856062/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143492392","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":"The Significance of Renal Impairment in Children with Eating Disorders.","authors":"Avisha Meleika Hamilton, Michael Eisenhut","doi":"10.3390/jpm15020056","DOIUrl":"10.3390/jpm15020056","url":null,"abstract":"<p><p><b>Background:</b> Eating disorders have previously been associated with renal impairment. Low muscle mass reduces serum creatinine used for the calculation of the estimated glomerular filtration rate (eGFR), leading to overestimation of renal function. To solve this problem, the development of a tool to detect renal impairment in individual patients with a specific muscle mass is required to individualize risk assessment for further management. The objectives of our study were as follows: To investigate the percentage drop in creatinine (pdCr) during rehydration as a new indicator of renal dysfunction not dependent on muscle mass and to investigate a correlation between cardiovascular function and fluid management with renal function. <b>Methods</b>: In a 5-year retrospective cohort study of all consecutive children admitted because of an eating disorder, renal function expressed as eGFR on admission and as pdCr between admission and the lowest creatinine level was analysed in relation to cardiovascular parameters and fluid management. <b>Results:</b> We included 29 patients. The mean age was 13.4 years. A pdCr after admission was noted in 26/29 (89.7%). The eGFR was <90 in 15 (65%) and improved to >90 in 13/15 (86.6%). In patients with a fluid management plan, there was a median of 18.6% for those with pdCr and 6.4% (<i>p</i> = 0.02) for those without. Renal dysfunction was not related to cardiovascular parameters. <b>Conclusions:</b> The majority of patients with an eating disorder had renal impairment. PdCr was more sensitive in the detection of renal impairment in individual patients compared to eGFR.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 2","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11856905/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143492489","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":"Associations of Clinical Presentation of Coeliac Disease with Comorbidities and Complications: A Retrospective Single-Centre Analysis.","authors":"Judit Bajor, Zsófia Vereczkei, Réka Bencs, Enikő Nagy, Míra Zsófia Peresztegi, Ivett Hegedűs, Nelli Farkas, András Tárnok, Nóra Szigeti, Zsolt Szakács","doi":"10.3390/jpm15020055","DOIUrl":"10.3390/jpm15020055","url":null,"abstract":"<p><p><b>Background:</b> The clinical presentation of coeliac disease (CD) is various and may influence disease course. We aimed to investigate the associations of clinical presentation with comorbidities and disease complications in a cohort of Hungarian coeliac patients. <b>Methods:</b> In this retrospective study, data of consecutive CD patients were analysed. Clinical presentation (classical vs. non-classical), extraintestinal manifestations and comorbidities (anaemia, metabolic bone disease, dermatitis herpetiformis, IgA deficiency, chromosomal abnormalities, autoimmune diseases and malignancy) were assessed. Student's <i>t</i>-test (for age at diagnosis) and the Chi-squared test or Fisher's exact test (for categorical variables) were applied as analyses. <b>Results:</b> A total of 738 patients were included. In classical vs. non-classical comparisons, classical presentation was significantly associated with metabolic bone disease (59 vs. 36%, respectively, <i>p</i> < 0.001), anaemia (47 vs. 38%, respectively, <i>p</i> = 0.027) and malignancy (6 vs. 2%, respectively, <i>p</i> = 0.006); however, autoimmune diseases and dermatitis herpetiformis were more common with non-classical presentation (23 vs. 31%, <i>p</i> = 0.02, and 5 vs. 16%, <i>p</i> = 0.014, respectively). <b>Conclusions:</b> Our findings confirm that clinical presentation is associated with certain comorbidities and complications in CD. More personalised follow-up may be recommended based on clinical presentation.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 2","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11856780/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143492477","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":"Enhanced Lymph Node Detection in Colon Cancer Using Indocyanine Green Fluorescence: A Systematic Review of Studies from 2020 Onwards.","authors":"Roxana Loriana Negrut, Adrian Cote, Bogdan Feder, Florian Dorel Bodog, Adrian Marius Maghiar","doi":"10.3390/jpm15020054","DOIUrl":"10.3390/jpm15020054","url":null,"abstract":"&lt;p&gt;&lt;p&gt;&lt;b&gt;Background:&lt;/b&gt; Colon cancer is known as one of the most prevalent malignancies in the world. This well-known pathology requires accurate lymph node dissection to achieve effective staging and improved treatment outcomes. Indocyanine green fluorescence imaging has been used as a new technique for enhancing lymph node visualization during surgical intervention. The high rates of local recurrence in colon cancer patients require innovative methods to improve lymphatic mapping and lymph node dissection. This review evaluates the clinical utility and efficacy of ICG imaging in enhancing lymph node accuracy in colon cancer surgery. &lt;b&gt;Materials and methods:&lt;/b&gt; A systematic search was conducted in October 2024 (last day of consulting the database was 16 November) across Web of Science, Scopus, and PubMed to identify studies published from 2020 onwards focusing on the use of indocyanine green in colon cancer surgeries. The search terms used were \"indocyanine green\", \"ICG\", \"fluorescent imaging\", \"near-infrared imaging\", \"colon cancer\", \"colorectal cancer\", \"colon carcinoma\",\" colon neoplasms\", \"surgery\", \"surgical procedure\", \"surgical resection\", surgical precision\". The search followed PRISMA guidelines. The records underwent a two-phase independent screening process conducted by the authors, first based on the title and abstract, followed by full record evaluation. Articles were excluded following certain exclusion criteria: non-human studies; restricted access publications; other publication type than article (review, meta-analysis, questionnaire-based study, case report, etc.), studies focusing on other diseases or studies that focused on the surgical treatment of metastasis from colon cancer; foreign language (non-English); no data of interest for the current review; studies that focused on rectal cancer and that grouped rectal and colon cancer. Data extraction involved both quantitative and qualitative data, such as detection rates, sensitivity, specificity, and other surgical outcomes. Risk of bias was assessed using ROBINS-I, J Joanna Briggs Institute (JBI) Critical Appraisal Checklist, and the Newcastle-Ottawa Scale, depending on study type. The study was not preregistered in PROSPERO. However, to ensure methodological rigor and transparency, it was retrospectively registered in Open Science Framework (OSF). &lt;b&gt;Results:&lt;/b&gt; From the 3300 records initially identified, 9 studies were included in this review. Detection rates varied from 55% to 100%, with the highest rate reported in robot-assisted surgeries. The studies showed an improved lymph node detection and lymphatic flow accuracy using ICG fluorescence. &lt;b&gt;Discussion:&lt;/b&gt; ICG fluorescence demonstrated substantial benefits, improving staging accuracy and potentially reducing recurrence rates by guiding the lymphadenectomy. The variability observed in detection rates is largely attributed to differences in ICG administration, cancer stage, and surgical approaches. &lt;b&gt;Conclusions:&lt;/","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 2","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11855940/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143492513","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":"The Orientation of the Prosthetic Trochlear Angle Is Predictable in Kinematically Aligned Total Knee Arthroplasty.","authors":"Giorgio Cacciola, Daniele Vezza, Alessandro Massè, Luigi Sabatini","doi":"10.3390/jpm15020052","DOIUrl":"10.3390/jpm15020052","url":null,"abstract":"<p><p><b>Objective</b>: This study aimed to predict the orientation of the prosthetic trochlear angle (PTA) relative to the quadriceps line of force (QLF) in kinematically aligned total knee arthroplasty (KA-TKA) by using preoperative radiographic parameters. <b>Methods</b>: This study included 144 patients who underwent KA-TKA with a femoral component designed for mechanical alignment (MA_DFC), with a PTA of 6°. Radiographic parameters, including the lateral distal femoral angle (LDFA) and the QLF^FMA (quadriceps line of force-femoral mechanical axis angle), were measured pre- and postoperatively. We developed and validated a formula to predict PTA orientation based on these values: \"X = QLF^FMA-(PTA-(90°-LDFA))\", where values of x > 0° predict a lateral PTA orientation, while x < 0° predicts a medial PTA. <b>Results</b>: The formula accurately predicted PTA orientation in 100% of the cases, with a difference between the predicted and actual PTA values of <0.5° in 75% of the cases. Patients with an LDFA < 86° and lower QLF^FMA values were identified as at risk for medial PTA orientation, which can affect patellar tracking. <b>Conclusions</b>: Our formula offers a reliable preoperative tool for predicting PTA orientation in KA-TKA, aiding in component selection and alignment strategies to improve patellofemoral function and patient outcomes.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 2","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11856362/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143492488","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":"Endoscopic transfacet Decompression for Severe Lumbar Spinal Stenosis: A Technical Note, Illustrative Clinical Series, and Surgeon Survey Regarding Post-Decompression Instability.","authors":"Kai-Uwe Lewandrowski, Álvaro Dowling, Choll Kim, Brian Kwon, John Ongulade, Kenyu Ito, Paulo Sergio Terxeira de Carvalho, Morgan P Lorio","doi":"10.3390/jpm15020053","DOIUrl":"10.3390/jpm15020053","url":null,"abstract":"<p><p><b>Background</b>: Lumbar spinal stenosis (LSS) remains a predominant cause of debilitating back and leg pain, affecting many aging populations. Traditional decompression surgeries can be invasive and pose significant risks and recovery time. This study elucidates the techniques and preliminary outcomes of endoscopic transfacet decompression in treating severe LSS. <b>Methods</b>: A retrospective review was performed on 65 patients with severe LSS who underwent endoscopic transfacet decompression. The patient outcomes were analyzed using the VAS for leg pain and the modified Macnab criteria. Pre-operative and post-operative scores were compared, and any complications were analyzed. An online survey was administered to 868 surgeons using Likert-scale ratings to evaluate surgeons' experience with endoscopic decompression in patients with painful spondylolisthesis. The survey responses were analyzed using descriptive statistics and Polytomous Rasch analysis to evaluate surgeon endorsement. <b>Results</b>: The study included 65 patients, of which 29 (44.6%) were female and 36 (55.4%) were male, with a mean age of 65.79 ranging from 38 to 84 years. The available mean post-operative follow-up period was 31.44 months, ranging from 24 to 39 months. The VAS score for leg pain reduced significantly from pre-operative 7.54 ± 1.67 to 2.20 ± 1.45 by 5.34 ± 2.03 (<i>p</i> < 0.001) with a large effect size (Cohen's d = 2.626). At the final follow-up, functional Macnab outcomes were reported as excellent by 20 (30.8%), good by 37 (56.9%), fair by 5 (7.7%), and poor by 3 (4.6%) of patients. There were no incidental durotomies, nerve root injuries, wound complications, or instances of post-operative instability. Only five patients (7.7%) developed post-operative dysesthesia. Incomplete decompression led to fair and poor outcomes in 8 (12.3%) patients. No revision surgeries were performed. post-operative instability was not observed. The surgeon survey corroborated these observations, where the polytomous Rasch analysis showed consensus on the effectiveness of the percutaneous endoscopic decompression of low-grade spondylolisthesis. Differential item functioning (DIF) analysis showed no significant bias in item responses between orthopaedic and neurosurgeons. <b>Conclusions</b>: The endoscopic transfacet decompression technique delineated herein showcased excellent Macnab outcomes in managing severe LSS, with a combined success rate of 87.7%. Patients also experienced a statistically significant reduction in leg pain. Dysesthesia rates were lower than with the transforaminal approach, likely because of limited exiting and traversing nerve root manipulation. This technique might represent a viable, less invasive alternative to open microsurgical dissection and decompression for patients with severe LSS, where fusion may be required. This approach was found to be highly accepted among endoscopic spine surgeons.</p>","PeriodicalId":16722,"journal":{"name":"Journal of Personalized Medicine","volume":"15 2","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11856951/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143492506","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}