Journal of Personalized Medicine

12 pages, 513 KiB

Open AccessArticle

Development and Validation of an Evaluation Questionnaire for the Healthy Early Life Moments in Singapore (HELMS) Program

by Chee Wai Ku, Muhammad Ashraf Yusoff, Elvia Chin Boon Ng, Ruther Teo Zheng, Fabian Yap, Jerry Kok Yen Chan and See Ling Loy

J. Pers. Med. 2024, 14(9), 989; https://doi.org/10.3390/jpm14090989 (registering DOI) - 17 Sep 2024

Abstract

Background/Objectives: Global fertility rates are declining due to metabolic and mental health challenges in women trying to conceive. The Healthy Early Life Moments in Singapore (HELMS) program aims to address these challenges through mobile health (mHealth)-enabled lifestyle interventions. However, the lack of validated [...] Read more.

Background/Objectives: Global fertility rates are declining due to metabolic and mental health challenges in women trying to conceive. The Healthy Early Life Moments in Singapore (HELMS) program aims to address these challenges through mobile health (mHealth)-enabled lifestyle interventions. However, the lack of validated evaluation tools for such programs makes it difficult to assess their feasibility and acceptability. To tackle this, a comprehensive evaluation questionnaire was developed and validated to determine if the HELMS preconception program’s implementation outcomes were achieved. Methods: The questionnaire development process included a literature review and a two-step validation process: content validation by five content experts and face validation by 20 HELMS participants. Content validation was assessed using the scale content validity index (S-CVI) based on relevance, clarity, simplicity, and ambiguity. Face validation with participants evaluated these criteria and the ease of completing the questionnaire. Internal consistency was assessed using Cronbach’s alpha among 49 participants. Results: The questionnaire achieved good S-CVI values for relevance (0.93), clarity (0.91), simplicity (0.94), and ambiguity (0.71). After expert feedback, the revised version scored highly among HELMS participants for relevance (100%), clarity (95%), simplicity (95%), and non-ambiguity (90%). A Cronbach’s alpha of 0.93 indicated good internal consistency. Conclusion: The HELMS evaluation questionnaire shows promise for evaluating similar mHealth-based lifestyle intervention programs globally. Full article

(This article belongs to the Section Methodology, Drug and Device Discovery)

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13 pages, 3420 KiB

Open AccessArticle

Numerical Simulation of Maxillary Anterior Teeth Retraction Utilizing Power Arms in Lingual Orthodontic Technique

by Shaher Alhiraky, Anna Konermann, Ludger Keilig and Christoph Bourauel

J. Pers. Med. 2024, 14(9), 988; https://doi.org/10.3390/jpm14090988 (registering DOI) - 17 Sep 2024

Abstract

Aims: It was the scope of this study to explore the biomechanical implications of retraction force application point modifications in lingual orthodontics, aiming to mitigate the bowing effect and enhance anchorage stability in the anterior teeth. Methods: Using the FE method on an [...] Read more.

Aims: It was the scope of this study to explore the biomechanical implications of retraction force application point modifications in lingual orthodontics, aiming to mitigate the bowing effect and enhance anchorage stability in the anterior teeth. Methods: Using the FE method on an idealized maxillary model, en masse retraction was simulated using a modified lingual fixed appliance including edgewise lingual brackets, a 0.017″ × 0.025″ mushroom-shaped archwire, and power arms between lateral incisors and canines, with a transpalatal arch (TPA) connecting the first molars. Applying bilateral retraction forces of 1.5 N at twelve positions, initial tooth displacements during space closure were evaluated. Results: Shifting power arms gingivally did not effectively counteract palatal tipping of incisors but reduced posterior and palatal tipping of canines with a power arm length of 11.3 mm preventing posterior tipping. Apically displacing the TPA retraction force increased mesiobuccal rotation while preventing mesial molar tipping for retraction forces applied 12.6 mm from the archwire. Conclusions: Apically shifting retraction forces can mitigate vertical bowing effects in lingual orthodontics, yet it also highlights the challenges in maintaining torque in the anterior teeth. Further research and clinical validation are essential in order to confirm these results, emphasizing the complexity and need for advanced biomechanical strategies in personalized lingual orthodontic treatments. Full article

(This article belongs to the Special Issue Personalized Medicine in Dental and Oral Health)

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10 pages, 194 KiB

Open AccessArticle

Factors Impacting Intent to Share Multigenic Cancer Testing Results in a Community Hospital Setting

by Wamia Siddiqui, Joel E. Pacyna, Sean M. Phelan, Jeremy C. Jones, N. Jewel Samadder and Richard R. Sharp

J. Pers. Med. 2024, 14(9), 987; https://doi.org/10.3390/jpm14090987 (registering DOI) - 17 Sep 2024

Abstract

Background/Objectives: Multi-gene, multi-cancer, hereditary cancer risk screenings may be useful in cancer prevention and treatment, not only for cancer patients but also for patients’ family members. If genetic cancer screening is to have the widest possible benefit, it must be extended into diverse [...] Read more.

Background/Objectives: Multi-gene, multi-cancer, hereditary cancer risk screenings may be useful in cancer prevention and treatment, not only for cancer patients but also for patients’ family members. If genetic cancer screening is to have the widest possible benefit, it must be extended into diverse cancer care settings that serve diverse patient communities, providing cancer patients and their relatives with individualized cancer risk evaluations. Little research, to date, has examined the impact of extending multigenic cancer screening into diverse settings. Without empirical data characterizing the support needs of cancer patients and their family members, we may not adequately satisfy the needs of all patients and risk exacerbating existing disparities in cancer care and outcomes. Methods: We examined patient perspectives on the sharing of genetic results with at-risk family members by surveying a racially diverse sample of cancer patients receiving a multi-gene, multi-cancer risk screen in a community hospital setting. Results: In a survey of 230 cancer patients, we found that intent to share results with family members was high but varied across family member types. More respondents planned to disclose results to at least one sister (82.5%) compared to at least one brother (73.1%). Over one-fourth of participants (27.4%) were either uncertain about sharing or intended to withhold their genomic screening results from at least one at-risk family member eligible for cascade testing. Participants were more likely to withhold their results from a sibling than from a child. Furthermore, intent to share across all family member types was lower if probands failed to identify at least one benefit to sharing. Conclusions: Understanding factors associated with decisions to share results with at-risk relatives in diverse patient populations can help clinicians support cascade genetic cancer screenings in diverse communities and settings. Full article

(This article belongs to the Section Omics/Informatics)

8 pages, 382 KiB

Open AccessArticle

Standardized Usage of Electronic Patient-Reported Outcome Measurements is Time-Efficient and Feasible

by Thilo Khakzad, Michael Putzier, Alexander Bartschke, Rasim Atakan Poyraz and Nima Taheri

J. Pers. Med. 2024, 14(9), 986; https://doi.org/10.3390/jpm14090986 (registering DOI) - 17 Sep 2024

Abstract

(1) Background: Digitization is of the utmost importance in improving the transfer of medical data. In order to emphasize the need for the greater implementation of digital solutions, we compared analog PROMs (aPROMs) to electronic PROMs (ePROMs) to emphasize the time benefits for [...] Read more.

(1) Background: Digitization is of the utmost importance in improving the transfer of medical data. In order to emphasize the need for the greater implementation of digital solutions, we compared analog PROMs (aPROMs) to electronic PROMs (ePROMs) to emphasize the time benefits for clinical everyday life. (2) Methods: This prospective, observational study compared the evaluation of SF-36 in patients between 18 and 80 years old with musculoskeletal pathologies. We performed an age-independent and age-dependent analysis. (3) Results: After the import of aPROMs data, ePROMs took significantly less time (11.97 ± 3.00 min vs. 9.41 ± 3.12 min, p = 0.002, d = 0.797). There were no significant differences associated with age for aPROMs (7.23 ± 2.57 min vs. 8.38 ± 2.71 min, p = 0.061, d = −0.607) or ePROMs (8.72 ± 2.19 min vs. 10.09 ± 3.80 min, p = 0.130, d = −0.436), respectively. (4) Conclusions: This study indicates that ePROMs are a time-feasible method for collecting data to guide patient-personalized treatment approaches. Full article

(This article belongs to the Special Issue Personalized Medicine in Orthopaedics, 2nd Edition)

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15 pages, 2044 KiB

Open AccessArticle

The 3-Steps Approach for Lumbar Stenosis with Anatomical Insights, Tailored for Young Spine Surgeons

by Giuseppe La Rocca, Gianluca Galieri, Edoardo Mazzucchi, Fabrizio Pignotti, Vittorio Orlando, Simona Pappalardo, Alessandro Olivi and Giovanni Sabatino

J. Pers. Med. 2024, 14(9), 985; https://doi.org/10.3390/jpm14090985 (registering DOI) - 16 Sep 2024

Abstract

Background/Objectives: Lumbar decompression surgery for degenerative lumbar stenosis is an intervention which addresses a degenerative condition affecting many patients. This article presents a meticulous three-phase surgical approach, derived from our clinical experiences and intertwining anatomical insights, offering a nuanced perspective tailored for [...] Read more.

Background/Objectives: Lumbar decompression surgery for degenerative lumbar stenosis is an intervention which addresses a degenerative condition affecting many patients. This article presents a meticulous three-phase surgical approach, derived from our clinical experiences and intertwining anatomical insights, offering a nuanced perspective tailored for the educational needs of young spinal surgeons. Methods: Six hundred and eighty-seven patients who underwent lumbar decompression surgery at a single institution were included in the present study. A retrospective analysis of patient demographics and surgical techniques was performed. All surgeries were performed by a consistent surgical team, emphasizing uniformity in approach. The surgical technique involves a meticulous three-phase process comprising exposure and skeletal visualization; microscopic identification and decompression; and undermining of the spinous process base and contralateral decompression. Results: Presenting results from 530 patients, the study examines demographic characteristics, health profiles, operative details, complications, and clinical assessments. The three-phase approach demonstrates low complication rates, absence of recurrences, and improved clinical outcomes, emphasizing its efficacy. Conclusions: The three-phase surgical approach emerges as a valuable educational tool for both novice and seasoned spinal surgeons. Rooted in anatomical insights, the structured methodology not only caters to the educational needs of young surgeons, but also ensures a standardized and safe procedure. The emphasis on tissue preservation and anatomical points aligns with current trends toward minimally invasive techniques, promising enhanced patient outcomes and satisfaction. Full article

(This article belongs to the Special Issue Personalized Therapeutic Advances in Neuro-Oncology and Neurosurgery)

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8 pages, 1608 KiB

Open AccessCase Report

Electrochemotherapy Treatment in a Patient with an Extended Basal Cell Carcinoma of the Face: A Case Report

by Francesco Russano, Davide Brugnolo, Giovanni Bisetto, Paolo Del Fiore, Marco Rastrelli, Simone Mocellin and Luigi Dall’Olmo

J. Pers. Med. 2024, 14(9), 984; https://doi.org/10.3390/jpm14090984 (registering DOI) - 16 Sep 2024

Abstract

Background. Basal cell carcinomas (BCCs) are common human malignancies with a rising incidence in recent years. While BCCs have a low mortality rate, they are often associated with significant local skin damage characterized by erythema, skin ulceration, and persistent pigmentation. Surgery, radiotherapy, and [...] Read more.

Background. Basal cell carcinomas (BCCs) are common human malignancies with a rising incidence in recent years. While BCCs have a low mortality rate, they are often associated with significant local skin damage characterized by erythema, skin ulceration, and persistent pigmentation. Surgery, radiotherapy, and systemic chemotherapy have traditionally been the principal treatments for these skin injuries. However, electrochemotherapy has recently been proposed as a novel local treatment with promising results for various skin cancers, including BCC, while avoiding the side effects of conventional therapies. ECT involves a local electrical stimulus that enhances cell membrane permeability, thereby enabling the targeted intracellular accumulation of the chemotherapeutic agent. Case Report: We report a case of a 68-year-old man with an ulcerated BCC, following his progress up to 14 months post-ECT treatment, with positive outcomes. Discussion and Conclusions: We achieved a complete clinical response and noted an improvement in the patient’s quality of life. This technique is fast, repeatable, requires minimal hospitalization, and reduces healthcare costs and adverse effects compared to major surgery. Therefore, it can be considered an alternative or complementary approach to traditional surgery for treating BCC of the head and neck. Full article

(This article belongs to the Special Issue Skin Cancers: Update on Personalized Treatment and Management)

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12 pages, 1188 KiB

Open AccessReview

Artificial Intelligence-Driven Diagnostic Processes and Comprehensive Multimodal Models in Pain Medicine

by Marco Cascella, Matteo L. G. Leoni, Mohammed Naveed Shariff and Giustino Varrassi

J. Pers. Med. 2024, 14(9), 983; https://doi.org/10.3390/jpm14090983 (registering DOI) - 16 Sep 2024

Abstract

Pain diagnosis remains a challenging task due to its subjective nature, the variability in pain expression among individuals, and the difficult assessment of the underlying biopsychosocial factors. In this complex scenario, artificial intelligence (AI) can offer the potential to enhance diagnostic accuracy, predict [...] Read more.

Pain diagnosis remains a challenging task due to its subjective nature, the variability in pain expression among individuals, and the difficult assessment of the underlying biopsychosocial factors. In this complex scenario, artificial intelligence (AI) can offer the potential to enhance diagnostic accuracy, predict treatment outcomes, and personalize pain management strategies. This review aims to dissect the current literature on computer-aided diagnosis methods. It also discusses how AI-driven diagnostic strategies can be integrated into multimodal models that combine various data sources, such as facial expression analysis, neuroimaging, and physiological signals, with advanced AI techniques. Despite the significant advancements in AI technology, its widespread adoption in clinical settings faces crucial challenges. The main issues are ethical considerations related to patient privacy, biases, and the lack of reliability and generalizability. Furthermore, there is a need for high-quality real-world validation and the development of standardized protocols and policies to guide the implementation of these technologies in diverse clinical settings. Full article

(This article belongs to the Special Issue Towards Precision Anesthesia and Pain Management)

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10 pages, 734 KiB

Open AccessArticle

Enhancing Patient Comprehension in Skull-Base Meningioma Surgery through 3D Volumetric Reconstructions: A Cost-Effective Approach

by Gheorghe Ungureanu, Larisa-Nicoleta Serban, Lehel Beni and Stefan-Ioan Florian

J. Pers. Med. 2024, 14(9), 982; https://doi.org/10.3390/jpm14090982 (registering DOI) - 16 Sep 2024

Abstract

Background: Understanding complex neurosurgical procedures and diseases, such as skull-base meningiomas, is challenging for patients due to the intricate anatomy and the involvement of critical neurovascular structures. Enhanced patient comprehension is crucial for satisfaction and improved clinical outcomes. Patient-specific 3D models have demonstrated [...] Read more.

Background: Understanding complex neurosurgical procedures and diseases, such as skull-base meningiomas, is challenging for patients due to the intricate anatomy and the involvement of critical neurovascular structures. Enhanced patient comprehension is crucial for satisfaction and improved clinical outcomes. Patient-specific 3D models have demonstrated benefits in patient education, though they are costly and time-intensive to produce. This study investigates whether the use of 3D volumetric reconstructions with anatomical segmentation, widely available via neuronavigation software, can improve patients’ understanding of skull-base meningiomas, surgical procedures, and potential complications. Materials and Methods: This study included twenty patients with skull-base meningiomas. Three-dimensional volume reconstructions and anatomical segmentations were created using preoperative MRI sequences with neuronavigation software. These reconstructions were used during patient consultations where a surgeon explained key aspects of the disease, the surgical intervention, and potential complications. A questionnaire assessed the patients’ perceptions of the utility of these 3D reconstructions. Results: The majority of patients (75%) found the 3D volumetric reconstructions and anatomical segmentations to be more beneficial than MRI images for understanding their disease. Similarly, 75% reported improved comprehension of the surgical approach, and 85% felt that the reconstructions enhanced their understanding of potential surgical complications. Overall, 65% of patients considered the 3D reconstructions valuable in medical consultations. Conclusions: Our study indicates that using accessible, cost-effective, and non-time-consuming 3D volumetric reconstructions with anatomical segmentation enhances patient understanding of skull-base meningiomas. Further research is necessary to confirm these findings, compare these reconstructions with physical 3D models and virtual reality models, and evaluate their impact on patient anxiety regarding the surgical procedure. Full article

(This article belongs to the Section Clinical Medicine, Cell, and Organism Physiology)

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24 pages, 1413 KiB

Open AccessArticle

Cheminformatic Identification of Tyrosyl-DNA Phosphodiesterase 1 (Tdp1) Inhibitors: A Comparative Study of SMILES-Based Supervised Machine Learning Models

by Conan Hong-Lun Lai, Alex Pak Ki Kwok and Kwong-Cheong Wong

J. Pers. Med. 2024, 14(9), 981; https://doi.org/10.3390/jpm14090981 (registering DOI) - 15 Sep 2024

Abstract

Background: Tyrosyl-DNA phosphodiesterase 1 (Tdp1) repairs damages in DNA induced by abortive topoisomerase 1 activity; however, maintenance of genetic integrity may sustain cellular division of neoplastic cells. It follows that Tdp1-targeting chemical inhibitors could synergize well with existing chemotherapy drugs to deny cancer [...] Read more.

Background: Tyrosyl-DNA phosphodiesterase 1 (Tdp1) repairs damages in DNA induced by abortive topoisomerase 1 activity; however, maintenance of genetic integrity may sustain cellular division of neoplastic cells. It follows that Tdp1-targeting chemical inhibitors could synergize well with existing chemotherapy drugs to deny cancer growth; therefore, identification of Tdp1 inhibitors may advance precision medicine in oncology. Objective: Current computational research efforts focus primarily on molecular docking simulations, though datasets involving three-dimensional molecular structures are often hard to curate and computationally expensive to store and process. We propose the use of simplified molecular input line entry system (SMILES) chemical representations to train supervised machine learning (ML) models, aiming to predict potential Tdp1 inhibitors. Methods: An open-sourced consensus dataset containing the inhibitory activity of numerous chemicals against Tdp1 was obtained from Kaggle. Various ML algorithms were trained, ranging from simple algorithms to ensemble methods and deep neural networks. For algorithms requiring numerical data, SMILES were converted to chemical descriptors using RDKit, an open-sourced Python cheminformatics library. Results: Out of 13 optimized ML models with rigorously tuned hyperparameters, the random forest model gave the best results, yielding a receiver operating characteristics-area under curve of 0.7421, testing accuracy of 0.6815, sensitivity of 0.6444, specificity of 0.7156, precision of 0.6753, and F1 score of 0.6595. Conclusions: Ensemble methods, especially the bootstrap aggregation mechanism adopted by random forest, outperformed other ML algorithms in classifying Tdp1 inhibitors from non-inhibitors using SMILES. The discovery of Tdp1 inhibitors could unlock more treatment regimens for cancer patients, allowing for therapies tailored to the patient’s condition. Full article

(This article belongs to the Special Issue Artificial Intelligence Applications in Precision Oncology)

16 pages, 1211 KiB

Open AccessArticle

Patterns of Lipid Abnormalities in Obesity: A Comparative Analysis in Normoglycemic and Prediabetic Obese Individuals

by Yazeed Alshuweishi, Abdulmalik A. Almufarrih, Arwa Abudawood, Dalal Alfayez, Abdullah Y. Alkhowaiter, Hamood AlSudais and Abdulaziz M. Almuqrin

J. Pers. Med. 2024, 14(9), 980; https://doi.org/10.3390/jpm14090980 (registering DOI) - 15 Sep 2024

Abstract

Abstract: Background: Obesity is a growing global health concern, often accompanied by dyslipidemia, contributing to cardiovascular risk. Understanding the patterns of dyslipidemia in different glycemic states is crucial for targeted interventions. This study compares dyslipidemia patterns in normoglycemic and prediabetic obesity to [...] Read more.

Abstract: Background: Obesity is a growing global health concern, often accompanied by dyslipidemia, contributing to cardiovascular risk. Understanding the patterns of dyslipidemia in different glycemic states is crucial for targeted interventions. This study compares dyslipidemia patterns in normoglycemic and prediabetic obesity to improve clinical management strategies. Methods: The study analyzed the complete lipid profiles of 138 subjects, comparing the medians, prevalence, diagnostic performance, and risk assessment of each lipid parameter across 54 non-obese (NO), 44 normoglycemic obese (NG-OB), and 40 pre-diabetic obese (PreDM-OB) groups. Results: Elevated total cholesterol (TC) and low-density lipoprotein (LDL) were the most prevalent forms of dyslipidemia observed in obesity (45.35% and 43.53%, respectively). Stratification by glycemic status revealed that triglyceride (TG) levels were elevated in both the NG-OB and PreDM-OB groups, with a more marked increase in the latter group (73.07 mg/dL vs. 97.87 mg/dL vs. 121.8 mg/dL, respectively). Elevated LDL showed better diagnostic performance and higher odds ratios (OR) in the NG-OB group (AUC = 0.660, p = 0.006; OR = 2.78, p = 0.022). Conversely, low high-density lipoprotein (HDL) was more common and exhibited significant diagnostic performance, with higher OR values in the PreDM-OB group (AUC = 0.687, p = 0.002; OR = 3.69, p = 0.018). Importantly, all lipid ratios were elevated in obesity, with TC/HDL showing the highest predictive ability for prediabetes (AUC = 0.7491, p < 0.001). Conclusions: These findings revealed unique and common lipid abnormalities in normoglycemic and prediabetic obesity. Future research should explore the effects of targeted lipid management on obesity-associated complications. Full article

(This article belongs to the Topic Metabolic Syndrome, Biomarkers and Lifestyles)

15 pages, 3249 KiB

Open AccessArticle

The InterVision Framework: An Enhanced Fine-Tuning Deep Learning Strategy for Auto-Segmentation in Head and Neck

by Byongsu Choi, Chris J. Beltran, Sang Kyun Yoo, Na Hye Kwon, Jin Sung Kim and Justin Chunjoo Park

J. Pers. Med. 2024, 14(9), 979; https://doi.org/10.3390/jpm14090979 (registering DOI) - 15 Sep 2024

Abstract

Adaptive radiotherapy (ART) workflows are increasingly adopted to achieve dose escalation and tissue sparing under dynamic anatomical conditions. However, recontouring and time constraints hinder the implementation of real-time ART workflows. Various auto-segmentation methods, including deformable image registration, atlas-based segmentation, and deep learning-based segmentation [...] Read more.

Adaptive radiotherapy (ART) workflows are increasingly adopted to achieve dose escalation and tissue sparing under dynamic anatomical conditions. However, recontouring and time constraints hinder the implementation of real-time ART workflows. Various auto-segmentation methods, including deformable image registration, atlas-based segmentation, and deep learning-based segmentation (DLS), have been developed to address these challenges. Despite the potential of DLS methods, clinical implementation remains difficult due to the need for large, high-quality datasets to ensure model generalizability. This study introduces an InterVision framework for segmentation. The InterVision framework can interpolate or create intermediate visuals between existing images to generate specific patient characteristics. The InterVision model is trained in two steps: (1) generating a general model using the dataset, and (2) tuning the general model using the dataset generated from the InterVision framework. The InterVision framework generates intermediate images between existing patient image slides using deformable vectors, effectively capturing unique patient characteristics. By creating a more comprehensive dataset that reflects these individual characteristics, the InterVision model demonstrates the ability to produce more accurate contours compared to general models. Models are evaluated using the volumetric dice similarity coefficient (VDSC) and the Hausdorff distance 95% (HD95%) for 18 structures in 20 test patients. As a result, the Dice score was 0.81 ± 0.05 for the general model, 0.82 ± 0.04 for the general fine-tuning model, and 0.85 ± 0.03 for the InterVision model. The Hausdorff distance was 3.06 ± 1.13 for the general model, 2.81 ± 0.77 for the general fine-tuning model, and 2.52 ± 0.50 for the InterVision model. The InterVision model showed the best performance compared to the general model. The InterVision framework presents a versatile approach adaptable to various tasks where prior information is accessible, such as in ART settings. This capability is particularly valuable for accurately predicting complex organs and targets that pose challenges for traditional deep learning algorithms. Full article

(This article belongs to the Section Methodology, Drug and Device Discovery)

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16 pages, 1686 KiB

Open AccessArticle

Clinical Outcomes and Cost Analysis in Patients with Heart Failure Undergoing Transcatheter Edge-to-Edge Repair for Mitral Valve Regurgitation

by Aleksander Dokollari, Serge Sicouri, Roberto Rodriguez, Eric Gnall, Paul Coady, Farah Mahmud, Stephanie Kjelstrom, Georgia Montone, Yoshiyuki Yamashita, Jarrett Harish, Beatrice Bacchi, Rakesh C Arora, Ashish Shah, Nitin Ghorpade, Sandra Abramson, Katie Hawthorne, Scott Goldman, William Gray, Francesco Cabrucci, Massimo Bonacchi and Basel Ramlawi Show full author list Hide full author list

J. Pers. Med. 2024, 14(9), 978; https://doi.org/10.3390/jpm14090978 (registering DOI) - 15 Sep 2024

Abstract

Objective: To analyze the clinical and cost outcomes of transcatheter edge-to-edge repair (TEER) for mitral regurgitation (MR) in heart failure (HF) patients. Methods: All 162 HF patients undergoing TEER for MR between January 2019 and March 2023 were included. A propensity-adjusted analysis was [...] Read more.

Objective: To analyze the clinical and cost outcomes of transcatheter edge-to-edge repair (TEER) for mitral regurgitation (MR) in heart failure (HF) patients. Methods: All 162 HF patients undergoing TEER for MR between January 2019 and March 2023 were included. A propensity-adjusted analysis was used to compare 32 systolic vs. 97 diastolic vs. 33 mixed (systolic + diastolic) HF patients. Systolic, diastolic, and mixed HF patients were defined according to AHA guidelines. The primary outcome was the long-term incidence of all-cause death and major adverse cardiovascular and cerebrovascular events (MACCEs, all-cause mortality + stroke + myocardial infarction + repeat intervention). Results: The mean age was 76.3 vs. 80.9 vs. 76 years old, and the mean ejection fraction (EF) was 39.5% vs. 59.8% vs. 39.7% in systolic vs. diastolic vs. mixed HF, respectively. Postoperatively, the diastolic vs. systolic HF group had a higher intensive care unit stay (21 vs. 0 h; HR 67.5 (23.7, 111.4)]; lower ventilation time [2 vs. 2.3 h; HR 49.4 (8.6, 90.2)]; lower EF [38% vs. 58.5%; HR 9.9 (3.7, 16.1)]. In addition, the diastolic vs. mixed HF groups had a lower incidence of EF < 50% (11 vs. 27 patients; HR 6.6 (1.6, 27.3) and a lower use of dialysis (one vs. three patients; HR 18.1 (1.1, 287.3), respectively. At a mean 1.6 years follow-up, all-cause death [HR 39.8 (26.2, 60.5)], MACCEs [HR 50.3 (33.7–75.1)], and new pacemaker implantations [HR 17.3 (8.7, 34.6)] were higher in the mixed group. There was no significant total hospital cost difference among the systolic (USD 106,859) vs. diastolic (USD 91,731) vs. mixed (USD 120,522) HF groups (p = 0.08). Conclusions: TEER for MR evidenced the worst postoperative and follow-up clinical outcomes in the mixed HF group compared to diastolic and systolic HF groups. No total hospital cost differences were observed. Full article

(This article belongs to the Special Issue Heart Valve Disease: Latest Advances and Prospects)

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19 pages, 1184 KiB

Open AccessArticle

Effectiveness of Psychological Counseling Intervention in High-Risk Pregnancies in Italy

by Sofia Burgio, Gaspare Cucinella, Antonio Perino, Giovanni Baglio, Laura Crifasi, Robert Krysiak, Karolina Kowalcze and Giuseppe Gullo

J. Pers. Med. 2024, 14(9), 976; https://doi.org/10.3390/jpm14090976 (registering DOI) - 15 Sep 2024

Abstract

Background: The longitudinal study examines the effectiveness of a psychological support treatment for high-risk pregnancies using a between-groups design. It assesses the treatment’s impact on depression and fear of COVID-19 at three time points, and on prenatal attachment between the 20th and 24th [...] Read more.

Background: The longitudinal study examines the effectiveness of a psychological support treatment for high-risk pregnancies using a between-groups design. It assesses the treatment’s impact on depression and fear of COVID-19 at three time points, and on prenatal attachment between the 20th and 24th weeks of gestation (T0), postnatal attachment 15–20 days after birth (T1), and three months after birth (T2). Additionally, the study evaluates the treatment’s effectiveness on PTSD related to childbirth and parental distress at T1 and T2. Methods: The study involved 117 parents experiencing high-risk pregnancies from a Sicilian hospital: 84 mothers (40 in the experimental group, 44 in the control group) and 33 fathers (19 in the experimental group, 14 in the control group). Results: ANOVA results showed that the psychological treatment was effective for maternal variables such as postnatal attachment and parental distress, and for paternal variables such as depression, prenatal attachment, PTSD symptoms, and parental distress (ANOVA, p < 0.05). Conclusions: The study highlights the growing evidence for providing continuous psychological support to couples with high-risk pregnancies, emphasizing that this support should extend beyond childbirth to assist families through this transition. Full article

(This article belongs to the Special Issue Hormone Therapies for Women)

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16 pages, 275 KiB

Open AccessArticle

Characterization and Automatic Discrimination between Predominant Hypoperfusion and Hyperperfusion Stages of NPDR

by Luís Mendes, Luísa Ribeiro, Inês Marques, Conceição Lobo and José Cunha-Vaz

J. Pers. Med. 2024, 14(9), 977; https://doi.org/10.3390/jpm14090977 (registering DOI) - 14 Sep 2024

Abstract

Background/Objectives: Diabetic retinopathy (DR) is a common diabetes complication that can lead to blindness through vision-threatening complications like clinically significant macular edema and proliferative retinopathy. Identifying eyes at risk of progression using non-invasive methods could help develop targeted therapies to halt diabetic retinal [...] Read more.

Background/Objectives: Diabetic retinopathy (DR) is a common diabetes complication that can lead to blindness through vision-threatening complications like clinically significant macular edema and proliferative retinopathy. Identifying eyes at risk of progression using non-invasive methods could help develop targeted therapies to halt diabetic retinal disease progression. Methods: A set of 82 imaging and systemic features was used to characterize the progression of nonproliferative diabetic retinopathy (NPDR). These features include baseline measurements (static features) and those capturing the temporal dynamic behavior of these static features within one year (dynamic features). Interpretable models were trained to distinguish between eyes with Early Treatment Diabetic Retinopathy Study (ETDRS) level 35 and eyes with ETDRS levels 43–47. The data used in this research were collected from 109 diabetic type 2 patients (67.26 ± 2.70 years; diabetes duration 19.6 ± 7.26 years) and acquired over 2 years. Results: The characterization of the data indicates that NPDR progresses from an initial stage of hypoperfusion to a hyperperfusion response. The performance of the classification model using static features achieved an area under the curve (AUC) of the receiver operating characteristics equal to 0.84 ± 0.07, while the model using both static and dynamic features achieved an AUC of 0.91 ± 0.05. Conclusion: NPDR progresses through an initial hypoperfusion stage followed by a hyperperfusion response. Characterizing and automatically identifying this disease progression stage is valuable and necessary. The results indicate that achieving this goal is feasible, paving the way for the improved evaluation of progression risk and the development of better-targeted therapies to prevent vision-threatening complications. Full article

(This article belongs to the Special Issue Pathophysiology of Retinopathy in Precision Medicine Era)

17 pages, 2374 KiB

Open AccessArticle

Advancing Cancer Care in Colombia: Results of the First In Situ Implementation of Comprehensive Genomic Profiling

by Juan Javier López Rivera, Paula Rueda-Gaitán, Laura Camila Rios Pinto, Diego Alejandro Rodríguez Gutiérrez, Natalia Gomez-Lopera, Julian Lamilla, Fabio Andrés Rojas Aguirre, Laura Bernal Vaca and Mario Arturo Isaza-Ruget

J. Pers. Med. 2024, 14(9), 975; https://doi.org/10.3390/jpm14090975 (registering DOI) - 14 Sep 2024

Abstract

Background: Comprehensive genomic profiling (CGP) identifies genetic alterations and patterns that are crucial for therapy selection and precise treatment development. In Colombia, limited access to CGP tests underscores the necessity of documenting the prevalence of treatable genetic alterations. This study aimed to describe [...] Read more.

Background: Comprehensive genomic profiling (CGP) identifies genetic alterations and patterns that are crucial for therapy selection and precise treatment development. In Colombia, limited access to CGP tests underscores the necessity of documenting the prevalence of treatable genetic alterations. This study aimed to describe the somatic genetic profile of specific cancer types in Colombian patients and assess its impact on treatment selection. Methods: A retrospective cohort study was conducted at Clínica Colsanitas S.A. from March 2023 to June 2024. Sequencing was performed on the NextSeq2000 platform with the TruSight Oncology 500 (TSO500) assay, which simultaneously evaluates 523 genes for DNA analysis and 55 for RNA; additionally, analyses were performed with the SOPHiA DDM software. The tumor mutational burden (TMB), microsatellite instability (MSI), and programmed cell death ligand 1 (PDL1) were assessed. Results: Among 111 patients, 103 were evaluated, with gastrointestinal (27.93%), respiratory (13.51%), and central nervous system cancers (10.81%) being the most prevalent. TP53 (37%), KMT2C (28%), and KRAS (21%) were frequent mutations. Actionable findings were detected in 76.7% of cases, notably in digestive (20 patients) and lung cancers (8 patients). MSI was stable at 82.52% and high at 2.91%, whilst TMB was predominantly low (91.26%). Conclusions: The test has facilitated access to targeted therapies, improving clinical outcomes in Colombian patients. This profiling test is expected to increase opportunities for personalized medicine in Colombia. Full article

(This article belongs to the Section Omics/Informatics)

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24 pages, 1447 KiB

Open AccessReview

Effects of Haptic Feedback Interventions in Post-Stroke Gait and Balance Disorders: A Systematic Review and Meta-Analysis

by Maria Gomez-Risquet, Rocío Cáceres-Matos, Eleonora Magni and Carlos Luque-Moreno

J. Pers. Med. 2024, 14(9), 974; https://doi.org/10.3390/jpm14090974 (registering DOI) - 14 Sep 2024

Abstract

Background: Haptic feedback is an established method to provide sensory information (tactile or kinesthetic) about the performance of an activity that an individual can not consciously detect. After a stroke, hemiparesis usually leads to gait and balance disorders, where haptic feedback can [...] Read more.

Background: Haptic feedback is an established method to provide sensory information (tactile or kinesthetic) about the performance of an activity that an individual can not consciously detect. After a stroke, hemiparesis usually leads to gait and balance disorders, where haptic feedback can be a promising approach to promote recovery. The aim of the present study is to understand its potential effects on gait and balance impairments, both after interventions and in terms of immediate effects. Methods: This research was carried out using the following scientific databases: Embase, Scopus, Web of Science, and Medline/PubMed from inception to May 2024. The Checklist for Measuring quality, PEDro scale, and the Cochrane collaboration tool were used to assess the methodological quality and risk of bias of the studies. Results: Thirteen articles were chosen for qualitative analysis, with four providing data for the meta-analysis. The findings did not yield definitive evidence on the effectiveness of haptic feedback for treating balance and gait disorders following a stroke. Conclusions: Further research is necessary in order to determine the effectiveness of haptic feedback mechanisms, with larger sample sizes and more robust methodologies. Longer interventions and pre–post design in gait training with haptic feedback are necessary. Full article

(This article belongs to the Special Issue Advances in Emerging Technologies for Rehabilitation: Personalized Perspective)

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12 pages, 3036 KiB

Open AccessArticle

Outcomes of Free Vascularized Fibular Grafts in Treating Massive Forearm Skeletal Defects

by Panagiotis Konstantinou, Lazaros Kostretzis, Athina Zacharoula Ditsiou, Ioannis Samaras, Pericles Papadopoulos and Konstantinos Ditsios

J. Pers. Med. 2024, 14(9), 973; https://doi.org/10.3390/jpm14090973 (registering DOI) - 14 Sep 2024

Abstract

Introduction: Reconstructing long bone defects in the upper limbs, particularly the radius and ulna, poses significant challenges. These defects, resulting from trauma, tumors, infections, or congenital anomalies, require precise surgical intervention for functional restoration. Traditional non-vascularized autogenous bone grafts have limitations, such as [...] Read more.

Introduction: Reconstructing long bone defects in the upper limbs, particularly the radius and ulna, poses significant challenges. These defects, resulting from trauma, tumors, infections, or congenital anomalies, require precise surgical intervention for functional restoration. Traditional non-vascularized autogenous bone grafts have limitations, such as resorption and limited biological activity. To address these challenges, free vascularized fibular grafts (FVFGs) have been developed, offering enhanced recovery by supplying nutrients and structural support, particularly in large defects or compromised vascularity. Materials and Methods: This retrospective study reviewed patients with significant forearm skeletal defects treated with FVFGs at our institution from January 2008 to January 2019. Included were patients with radius or ulna defects exceeding 8 cm due to trauma, tumor excision, or non-union fractures. Data on demographics, clinical details, surgical techniques, and outcomes—including graft union time, complications, range of motion, and the disabilities of the arm, shoulder and hand (DASH) scores—were analyzed. Results: Eight patients, with a mean age of 27.6 years and an average defect length of 9.8 cm, were included. All patients achieved graft union within an average of 4 months, with no tumor recurrence or significant complications. Functional outcomes showed mean forearm pronation of 56.9 degrees, supination of 52.5 degrees, and a mean DASH score of 17.7. Conclusions: FVFG is a safe and effective technique for managing complex forearm bone defects, providing high union rates and good functional outcomes. It should be considered a primary option for large forearm skeletal defects. Full article

(This article belongs to the Special Issue Trauma Surgery: Strategies, Challenges and Vision of the Future)

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14 pages, 2632 KiB

Open AccessArticle

Erythropoietin Reduces Inflammation, Oxidative Stress, and Apoptosis in a Rat Model of Bleomycin-Induced Idiopathic Pulmonary Fibrosis

by Drosos Tsavlis, Kalliopi Domvri, Konstantinos Porpodis, Stamatia Papoutsopoulou, Doxakis Anestakis, Anna Tzoumaka, Soultana Meditskou, Konstantina Symeonidoy and Evangelia Spandou

J. Pers. Med. 2024, 14(9), 972; https://doi.org/10.3390/jpm14090972 (registering DOI) - 13 Sep 2024

Abstract

Background: Idiopathic pulmonary fibrosis (IPF) is a lethal interstitial disease with unknown etiology and no effective cure, posing a great health burden to society. Erythropoietin (EPO) has been demonstrated to have protective roles in various tissues such as brain, spinal cord, heart, kidney [...] Read more.

Background: Idiopathic pulmonary fibrosis (IPF) is a lethal interstitial disease with unknown etiology and no effective cure, posing a great health burden to society. Erythropoietin (EPO) has been demonstrated to have protective roles in various tissues such as brain, spinal cord, heart, kidney and lung tissues. In this study, we investigate the specific anti-inflammatory, antioxidant and antiapoptotic effects of erythropoietin on lung tissue in a bleomycin-induced rat model of idiopathic pulmonary fibrosis. Methods: Recombinant human EPO or saline was injected, and the animals were monitored for 14 days after bleomycin instillation. Their hematocrit and serum EPO levels were determined. Histological and immunohistochemical analyses were performed. Results: The extent of tissue injury, determined through morphometric analysis, was significantly decreased in size in animals treated with erythropoietin. An immunohistochemical analysis of the expression of cyclooxygenase-2 (COX-2), inducible synthase of nitric oxide (i-NOS), metalloproteinase-9 (MMP-9), erythropoietin receptor (EPO-R), and cytochrome-C (cyt-C) found these enzymes to be decreased in a statistically significant manner in animals treated with erythropoietin when compared to a non-treated group. Conclusions: The reduced expression of COX-2, i-NOS, MMP-9, EPO-R, and i-NOS in the lung tissues of animals treated with EPO indicates the anti-inflammatory, antioxidant and antiapoptotic action of erythropoietin, suggesting its potential therapeutic role in pulmonary fibrosis. Full article

(This article belongs to the Section Disease Biomarker)

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8 pages, 462 KiB

Open AccessArticle

The Relationship between Surrogate Markers of Insulin Resistance and Occurrence of Colorectal Adenoma in Individuals under 50 Years Old: A Single-Center Retrospective Cross-Sectional Study

by Chi Hyeon Choi, Sang Yi Moon and Jong Yoon Lee

J. Pers. Med. 2024, 14(9), 971; https://doi.org/10.3390/jpm14090971 - 13 Sep 2024

Abstract

(1) Background: Young-onset colorectal adenomas (YOAs) are precursors to early-onset colorectal cancer, a growing concern among individuals under 50 years old. This study investigated the association between surrogate markers of insulin resistance (IR) and YOAs occurrence. (2) Methods: A retrospective cross-sectional analysis was [...] Read more.

(1) Background: Young-onset colorectal adenomas (YOAs) are precursors to early-onset colorectal cancer, a growing concern among individuals under 50 years old. This study investigated the association between surrogate markers of insulin resistance (IR) and YOAs occurrence. (2) Methods: A retrospective cross-sectional analysis was conducted on 4467 individuals aged 20 to 49 years who underwent their first screening colonoscopy at Dong-A University Hospital from 2018 to 2022. IR was assessed using the triglyceride–glucose (TyG) index, triglyceride-to-high-density lipoprotein cholesterol ratio (TG/HDL-C), and metabolic score for insulin resistance (METS-IR). (3) Results: Individuals with YOAs exhibited significantly higher median TyG index (8.51 ± 0.71 vs. 8.32 ± 0.61, p < 0.001), TG/HDL-C ratio (2.78 ± 3.05 vs. 2.12 ± 1.85, p < 0.001), and METS-IR (35.72 ± 8.37 vs. 33.44 ± 9.11, p < 0.001) values than controls. The adjusted odds ratios for YOAs were 1.064 (95% CI: 1.22–2.23, p = 0.021) for the TyG index, 1.067 (95% CI: 1.031–1.105, p < 0.001) for the TG/HDL-C ratio, and 1.011 (95% CI: 1.002–1.021, p = 0.023) for METS-IR values, indicating a strong association between higher IR marker values and the presence of YOAs. (4) Conclusions: Elevated IR marker values are strongly associated with the occurrence of YOAs in individuals under 50 years old. Full article

(This article belongs to the Special Issue Colorectal Cancer: Innovations in Screening, Diagnosis and Treatment)

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