Journal Description
Journal of Personalized Medicine
Journal of Personalized Medicine
is an international, peer-reviewed, open access journal on personalized medicine, published monthly online by MDPI.
- Open Access— free for readers, with article processing charges (APC) paid by authors or their institutions.
- High Visibility: indexed within Scopus, SCIE (Web of Science), PubMed, PMC, Embase, and other databases.
- Journal Rank: JCR - Q2 (Medicine, General & Internal) CiteScore - Q2 (Medicine (miscellaneous))
- Rapid Publication: manuscripts are peer-reviewed and a first decision is provided to authors approximately 17.8 days after submission; acceptance to publication is undertaken in 2.6 days (median values for papers published in this journal in the second half of 2023).
- Recognition of Reviewers: reviewers who provide timely, thorough peer-review reports receive vouchers entitling them to a discount on the APC of their next publication in any MDPI journal, in appreciation of the work done.
Impact Factor:
3.4 (2022);
5-Year Impact Factor:
3.5 (2022)
Latest Articles
Vasculopathy Augments Cardiovascular Risk in Community-Dwelling Elderly with Left Ventricular Hypertrophy
J. Pers. Med. 2024, 14(6), 558; https://doi.org/10.3390/jpm14060558 (registering DOI) - 23 May 2024
Abstract
This study aimed to investigate the impact of various vasculopathies alongside left ventricular hypertrophy (LVH) on cardiovascular risk in the elderly. This prospective cohort study included 3339 older adults from the Northern Shanghai Study, classified into four mutually exclusive left ventricular (LV) geometry
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This study aimed to investigate the impact of various vasculopathies alongside left ventricular hypertrophy (LVH) on cardiovascular risk in the elderly. This prospective cohort study included 3339 older adults from the Northern Shanghai Study, classified into four mutually exclusive left ventricular (LV) geometry groups based on echocardiographic data: normal geometry, concentric remodeling, eccentric hypertrophy, and concentric hypertrophy. Vasculopathy was categorized into three primary types: arteriosclerosis, atherosclerosis, and renal senescence. Major adverse cardiovascular events (MACEs) were defined as non-fatal acute myocardial infarction, non-fatal stroke, and cardiovascular deaths according to ICD-10 codes. Over a median follow-up period of 5.7 years, 221 incident cases of MACEs were identified. Concentric hypertrophy exhibited the highest prevalence of hypertension, the most significant increase in vascular stiffness, and the highest rate of MACEs. The adjusted Cox regression analysis showed that eccentric hypertrophy is associated with an increased risk of MACEs (HR: 1.638 [95% CI: 1.151–2.331], p = 0.006), while concentric hypertrophy shows an even higher risk (HR: 1.751 [95% CI: 1.127–2.721], p = 0.013). Conversely, concentric remodeling was not significantly associated with an increased risk of MACEs. Renal senescence presents a moderate but significant risk for MACEs, with an HR of 1.361 (95% CI: 1.019–1.819; p = 0.037) when adjusted for LVH. The Kaplan–Meier analysis showed that patients with LVH and multiple vasculopathies experience the most significant decrease in survival probability (log-rank p < 0.001). The subgroup analysis revealed that LVH significantly raises the risk of MACEs, especially in older males with hypertension, diabetes, or vasculopathy. This study reinforces the importance of LVH as a predictor of adverse cardiovascular outcomes and underscores the compounded risk associated with the presence of multiple vasculopathies. Additionally, it highlights renal senescence as a distinct and independent risk factor for MACEs, separate from LVH.
Full article
(This article belongs to the Special Issue Cardiology and Vascular Health: Pathophysiology, Therapeutics and Epidemiology)
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Open AccessArticle
Immunotherapy Applications for Thymine Dimers and WT1 Antigen in Renal Cancers: A Comparative Statistical Analysis
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Silviu Constantin Latcu, Razvan Bardan, Alin Adrian Cumpanas, Vlad Barbos, Flavia Baderca, Pusa Nela Gaje, Raluca Amalia Ceausu, Serban Comsa, Cristina-Stefania Dumitru, Raluca Dumache, Talida Georgiana Cut, Voichita Elena Lazureanu and Ligia Petrica
J. Pers. Med. 2024, 14(6), 557; https://doi.org/10.3390/jpm14060557 (registering DOI) - 23 May 2024
Abstract
Renal cell carcinoma (RCC) remains incurable in advanced stages. Biomarkers have proven to be quite useful in cancer therapeutics. Herein, we provide a comparative/integrative statistical analysis of seminal immunohistochemistry (IHC) findings for Wilms’ Tumor 1 antigen (WT1) and thymine dimers (TDs), emerging as
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Renal cell carcinoma (RCC) remains incurable in advanced stages. Biomarkers have proven to be quite useful in cancer therapeutics. Herein, we provide a comparative/integrative statistical analysis of seminal immunohistochemistry (IHC) findings for Wilms’ Tumor 1 antigen (WT1) and thymine dimers (TDs), emerging as atypical, yet promising, potential biomarkers for RCCs. We assessed WT1/TD reactivity in adult RCC tumor cells, tumor microenvironment (TME), and tumor-adjacent healthy renal tissue (HRT). WT1 positivity was scarce and strictly nuclear in tumor cells, whereas TD-reactive tumor tissues were prevalent. We report statistically significant positive correlations between the density of reactive RCC cellularity and the intensity of nuclear staining for both biomarkers (WT1 − rho = 0.341, p-value = 0.036; TDs − rho = 0.379, p-value = 0.002). RCC stromal TME TD-positivity was much more frequent than WT1 reactivity, apparently proportional to that of the proper RCC cellularity and facilitated by extensive RCC inflammatory infiltration. TDs exhibited nuclear reactivity for most TME cell lines, while RCC TME WT1 expression was rare and inconsistent. In HRTs, TDs were entirely restricted to renal tubular cells, the likely cellular progenitor of most conventional RCC subtypes. In lieu of proper validation, these early findings have significant implications regarding the origins/biology of RCCs and may inform RCC therapeutics, both accounting for the high frequency of immunotherapy-permissive frameshift indels in RCCs, but also hinting at novel predictive clinical tools for WT1-targeted immunotherapy. Overall, the current study represents a meek yet hopefully significant step towards understanding the molecular biology and potential therapeutic targets of RCCs.
Full article
(This article belongs to the Special Issue Urologic Oncology: Biomarkers and Targeted Therapies)
Open AccessReview
Exploring Health Informatics in the Battle against Drug Addiction: Digital Solutions for the Rising Concern
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Shakila Jahan Shimu, Srushti Moreshwar Patil, Ebenezer Dadzie, Tadele Tesfaye, Poorvanshi Alag and Gniewko Więckiewicz
J. Pers. Med. 2024, 14(6), 556; https://doi.org/10.3390/jpm14060556 (registering DOI) - 23 May 2024
Abstract
Drug addiction is a rising concern globally that has deeply attracted the attention of the healthcare sector. The United States is not an exception, and the drug addiction crisis there is even more serious, with 10% of adults having faced substance use disorder,
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Drug addiction is a rising concern globally that has deeply attracted the attention of the healthcare sector. The United States is not an exception, and the drug addiction crisis there is even more serious, with 10% of adults having faced substance use disorder, while around 75% of this number has been reported as not having received any treatment. Surprisingly, there are annually over 70,000 deaths reported as being due to drug overdose. Researchers are continually searching for solutions, as the current strategies have been ineffective. Health informatics platforms like electronic health records, telemedicine, and the clinical decision support system have great potential in tracking the healthcare data of patients on an individual basis and provide precise medical support in a private space. Such technologies have been found to be useful in identifying the risk factors of drug addiction among people and mitigating them. Moreover, the platforms can be used to check prescriptions of addictive drugs such as opioids and caution healthcare providers. Programs such as the Prescription Drug Monitoring Program (PDMP) and the Drug and Alcohol Services Information Systems (DASIS) are already in action in the US, but the situation demands more in-depth studies in order to mitigate substance use disorders. Artificial intelligence (AI), when combined with health informatics, can aid in the analysis of large amounts of patient data and aid in classifying nature of addiction to assist in the provision of personalized care.
Full article
(This article belongs to the Special Issue Personalized Medicine in Psychiatry: Challenges and Opportunities)
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Open AccessReview
Advances in Molecular and Genetic Technologies and the Problems Related to Their Application in Personalized Medicine
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Valeriya Nakhod, Anton Krivenko, Tatiana Butkova, Kristina Malsagova and Anna Kaysheva
J. Pers. Med. 2024, 14(6), 555; https://doi.org/10.3390/jpm14060555 - 23 May 2024
Abstract
Advances in the global personalized medicine market are directly related to innovations and developments in molecular and genetic technologies. This review focuses on the key trends in the development of these technologies in the healthcare sector. The existing global developments having an impact
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Advances in the global personalized medicine market are directly related to innovations and developments in molecular and genetic technologies. This review focuses on the key trends in the development of these technologies in the healthcare sector. The existing global developments having an impact on the evolution of the personalized medicine market are reviewed. Efficient measures to support the development of molecular and genetic technologies are proposed.
Full article
(This article belongs to the Section Molecular Targeted Therapy)
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Open AccessArticle
Application of Stem Cells Shows Antiinflammatory Effect in an Irradiated Random Pattern Flap Model
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Wibke Müller-Seubert, Lena Fuchs, Raymund E. Horch, Luitpold Distel, Benjamin Frey, Isabell Renno, Ramona Erber and Andreas Arkudas
J. Pers. Med. 2024, 14(6), 554; https://doi.org/10.3390/jpm14060554 - 23 May 2024
Abstract
Background: In reconstructive surgery, local flaps might develop tissue necrosis or partial flap loss especially after previous irradiation, which may be necessary in many tumor entities. The application of stem cells seems promising to improve flap perfusion and might be a possible solution
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Background: In reconstructive surgery, local flaps might develop tissue necrosis or partial flap loss especially after previous irradiation, which may be necessary in many tumor entities. The application of stem cells seems promising to improve flap perfusion and might be a possible solution to optimize flap survival. Methods: Twenty rats received harvesting of bilateral random pattern fasciocutaneous flaps. The right flaps received 20 Gy ionizing radiation 4 weeks prior to the surgery, while the left flaps served as the non-irradiated control. After flap harvest, four different stem cell mixtures (5 × 106 ASC, ASC-HUVEC, MSC, MSC-HUVEC) were applied under both right and left flaps using 1 mL fibrin glue as the delivery vehicle. Flap size and its necrotic area were examined clinically. Two weeks after the surgery, HE staining and immunohistochemical staining for CD68 and ERG, as well as PCR analysis (Interleukin 6, HIF-1α and VEGF), were performed. Results: Application of ASCs, ASCs-HUVECs and MSCs resulted in a lower number of CD68-stained cells compared to the no cell group. The expression of Hif1α was higher in the ASC group compared to those in the MSC and previously treated no cell groups. Treatment with MSCs and MSCs-HUVECs prevented shrinking of the flaps in this series. Conclusion: Application of ASCs, MSCs and ASCs-HUVECs was shown to have an antiinflammatory effect. Treatment with MSCs and MSCs-HUVECs can prevent early shrinking of the flaps.
Full article
(This article belongs to the Special Issue Implications for Personalized Plastic, Aesthetic and Reconstructive Surgery)
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Open AccessReview
Knockout Genes in Bowel Anastomoses: A Systematic Review of Literature Outcomes
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Georgios Geropoulos, Kyriakos Psarras, Georgios Koimtzis, Massimiliano Fornasiero, Elissavet Anestiadou, Vasileios Geropoulos, Anna Michopoulou, Maria Papaioannou, Kokkona Kouzi-Koliakou and Ioannis Galanis
J. Pers. Med. 2024, 14(6), 553; https://doi.org/10.3390/jpm14060553 (registering DOI) - 23 May 2024
Abstract
Background: The intestinal wound healing process is a complex event of three overlapping phases: exudative, proliferative, and remodeling. Although some mechanisms have been extensively described, the intestinal healing process is still not fully understood. There are some similarities but also some differences compared
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Background: The intestinal wound healing process is a complex event of three overlapping phases: exudative, proliferative, and remodeling. Although some mechanisms have been extensively described, the intestinal healing process is still not fully understood. There are some similarities but also some differences compared to other tissues. The aim of this systematic review was to summarize all studies with knockout (KO) experimental models in bowel anastomoses, underline any recent knowledge, and clarify further the cellular and molecular mechanisms of the intestinal healing process. A systematic review protocol was performed. Materials and methods: Medline, EMBASE, and Scopus were comprehensively searched. Results: a total of eight studies were included. The silenced genes included interleukin-10, the four-and-one-half LIM domain-containing protein 2 (FHL2), cyclooxygenase-2 (COX-2), annexin A1 (ANXA-1), thrombin-activatable fibrinolysis inhibitor (TAFI), and heparin-binding epidermal growth factor (HB-EGF) gene. Surgically, an end-to-end bowel anastomosis was performed in the majority of the studies. Increased inflammatory cell infiltration in the anastomotic site was found in IL-10-, annexin-A1-, and TAFI-deficient mice compared to controls. COX-1 deficiency showed decreased angiogenesis at the anastomotic site. Administration of prostaglandin E2 in COX-2-deficient mice partially improved anastomotic leak rates, while treatment of ANXA1 KO mice with Ac2-26 nanoparticles reduced colitis activity and increased weight recovery following surgery. Conclusions: our findings provide new insights into improving intestinal wound healing by amplifying the aforementioned genes using appropriate gene therapies. Further research is required to clarify further the cellular and micromolecular mechanisms of intestinal healing.
Full article
(This article belongs to the Special Issue Novel Challenges and Therapeutic Options for Digestive and Liver Diseases)
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Open AccessArticle
Exploring Inflammatory Parameters in Lung Cancer Patients: A Retrospective Analysis
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Catalin Vladut Ionut Feier, Calin Muntean, Alaviana Monique Faur, Vasile Gaborean, Ioan Adrian Petrache and Gabriel Veniamin Cozma
J. Pers. Med. 2024, 14(6), 552; https://doi.org/10.3390/jpm14060552 - 22 May 2024
Abstract
Inflammation-related parameters serve as pivotal indicators in the prognosis and management of lung cancer. This retrospective investigation aimed to explore the relationship between inflammatory markers and diverse clinical variables in non-small-cell lung cancer patients. A cohort of 187 individuals undergoing elective lobectomy for
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Inflammation-related parameters serve as pivotal indicators in the prognosis and management of lung cancer. This retrospective investigation aimed to explore the relationship between inflammatory markers and diverse clinical variables in non-small-cell lung cancer patients. A cohort of 187 individuals undergoing elective lobectomy for lung cancer was retrospectively analyzed, spanning an 11-year data collection period. Six inflammation ratios derived from complete peripheral blood counts were assessed. Significantly elevated levels of neutrophil-to-lymphocyte ratio (NLR) (p = 0.005), platelet-to-lymphocyte ratio (PLR) (p = 0.001), Aggregate Index of Systemic Inflammation (AISI) (p = 0.015), Systemic Inflammation Response Index (SIRI) (p = 0.004), and Systemic Immune Inflammation Index (SII) (p = 0.004) were observed in patients with advanced T stages. Significantly, elevated values (p < 0.05) of these parameters were observed in the study’s smoker patients compared to non-smokers. A statistically significant correlation was identified between the NLR parameter and tumor size (p = 0.07, r = 0.204), alongside a significant elevation in SIRI (p = 0.041) among patients experiencing postoperative complications. Inflammatory biomarkers emerge as invaluable prognostic indicators for patients with non-small-cell lung cancer, offering potential utility in forecasting their prognosis.
Full article
(This article belongs to the Special Issue Respiratory Health and Chronic Disease Management)
Open AccessArticle
Intravascular Laser Blood Irradiation (ILIB) Enhances Antioxidant Activity and Energy Metabolism in Aging Ovaries
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Li-Te Lin, Chia-Jung Li, Chyi-Uei Chern, Pei-Hsuan Lin, Po-Wen Lin, Yu-Chen Chen, Hsiao-Wen Tsai and Kuan-Hao Tsui
J. Pers. Med. 2024, 14(6), 551; https://doi.org/10.3390/jpm14060551 - 22 May 2024
Abstract
Background: Ovarian aging is characterized by the accumulation of free radicals, leading to tissue damage and affecting reproductive health. Intravascular laser irradiation of blood (ILIB, using a low-energy He-Ne laser) is known for its efficacy in treating vascular-related diseases by reducing free radicals
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Background: Ovarian aging is characterized by the accumulation of free radicals, leading to tissue damage and affecting reproductive health. Intravascular laser irradiation of blood (ILIB, using a low-energy He-Ne laser) is known for its efficacy in treating vascular-related diseases by reducing free radicals and inflammation. However, its impact on ovarian aging remains unexplored. This study aimed to investigate the effects of ILIB on oxidative stress and energy metabolism in aging ovaries. Methods: Genetic analysis was conducted on 75 infertile patients with aging ovaries, divided into ILIB-treated and control (CTRL) groups. Patients underwent two courses of laser treatment, and clinical parameters were evaluated. Cumulus cells were collected for the genetic analysis of oxeiptosis, glycolysis, and the tricarboxylic acid (TCA) cycle. Results: The analysis of gene expression patterns revealed intriguing findings in ILIB-treated patients compared to the untreated group. Notably, ILIB treatment resulted in significant upregulation of oxeiptosis-related genes AIFM1 and NRF2, suggesting a potential protective effect against oxidative stress-induced cell death. Furthermore, ILIB treatment led to a downregulation of glycolysis-associated gene hexokinase 2 (HK2), indicating a shift away from anaerobic metabolism, along with an increase in PDHA levels, indicative of enhanced mitochondrial function. Consistent with these changes, ILIB-treated patients exhibited elevated expression of the key TCA cycle genes citrate synthase (CS), succinate dehydrogenase complex subunit A (SDHA), and fumarate hydratase (FH), signifying improved energy metabolism. Conclusion: The findings from this study underscore the potential of ILIB as a therapeutic strategy for mitigating ovarian aging. By targeting oxidative stress and enhancing energy metabolism, ILIB holds promise for preserving ovarian function and reproductive health in aging individuals. Further research is warranted to elucidate the underlying mechanisms and optimize the application of ILIB in clinical settings, with the ultimate goal of improving fertility outcomes in women experiencing age-related ovarian decline.
Full article
(This article belongs to the Special Issue Advances in the Research of Endocrine and Metabolic Disorders in the Human Reproductive System)
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Open AccessReview
Ultrasonographic Insights into Peripheral Psoriatic Arthritis: Updates in Diagnosis and Monitoring
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Karina Rossi Bonfiglioli, Fernanda Oliveira de Andrade Lopes, Letícia Queiroga de Figueiredo, Luis Fernando Fernandes Ferrari and Lissiane Guedes
J. Pers. Med. 2024, 14(6), 550; https://doi.org/10.3390/jpm14060550 - 22 May 2024
Abstract
Psoriatic arthritis (PsA) is a chronic inflammatory arthritis associated with psoriasis, characterized by heterogeneous clinical manifestations and variable disease progression. Ultrasonography has emerged as a valuable tool in the diagnosis and monitoring of PsA, providing real-time visualization of joint and soft tissue abnormalities.
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Psoriatic arthritis (PsA) is a chronic inflammatory arthritis associated with psoriasis, characterized by heterogeneous clinical manifestations and variable disease progression. Ultrasonography has emerged as a valuable tool in the diagnosis and monitoring of PsA, providing real-time visualization of joint and soft tissue abnormalities. This review highlights recent advancements in ultrasonographic techniques for the assessment of PsA, including the identification of typical features, the role of power Doppler imaging in detecting active inflammation, and the potential of ultrasound for guiding treatment decisions. Additionally, we discuss the utility of ultrasound in assessing treatment response and monitoring disease progression in patients with PsA, with a focus on novel imaging modalities. By elucidating the evolving role of ultrasonography in PsA management, this article aims to enhance clinicians’ understanding of its utility in facilitating early diagnosis, optimizing treatment strategies, and improving patient outcomes.
Full article
(This article belongs to the Special Issue Psoriatic Arthritis and the Need to Personalize Diagnosis, Clinimetry, and Treatment)
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Open AccessEditorial
Special Issue “Cancer Biomarker Research and Personalized Medicine 2.0”
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James Meehan and Mark Gray
J. Pers. Med. 2024, 14(6), 549; https://doi.org/10.3390/jpm14060549 - 21 May 2024
Abstract
In 2022, there was an estimated incidence of 20 million cancer cases and 9.7 million deaths from cancer worldwide [...]
Full article
(This article belongs to the Special Issue Cancer Biomarker Research and Personalized Medicine 2.0)
Open AccessTechnical Note
Minimally Invasive Controlled Growing Rods for the Surgical Treatment of Early-Onset Scoliosis—A Surgical Technique Video
by
Pawel Grabala
J. Pers. Med. 2024, 14(6), 548; https://doi.org/10.3390/jpm14060548 - 21 May 2024
Abstract
Background: Spinal deformities in children and adolescents can be easily divided into those occurring and diagnosed before the age of 10—early-onset scoliosis—and those occurring and diagnosed after the age of 10—late-onset scoliosis. When the curvature continues to progress and exceeds a Cobb angle
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Background: Spinal deformities in children and adolescents can be easily divided into those occurring and diagnosed before the age of 10—early-onset scoliosis—and those occurring and diagnosed after the age of 10—late-onset scoliosis. When the curvature continues to progress and exceeds a Cobb angle of more than 60–65 degrees, surgical treatment should be considered. The most common treatment procedure for EOS is the surgical correction of the deformity using standard growing rods (SGRs), and in the case of congenital defects with additional hemivertebrae, it is the resection of the hemivertebra and short fusion. Minimally invasive controlled growing rods (MICGRs) need to be distracted every 6–9 months through a minimally invasive approach that involves sedation and neuromonitoring to obtain the best possible correction while minimizing complications. The aim of our study is to present a less-invasive surgical technique for MICGR implantation based on a two-case presentation—early-onset idiopathic scoliosis and congenital kyphosis. The surgical technique is the less-invasive percutaneous and subfascial implantation of MICGRs without long incisions in the back. Conclusions: The use of MICGRs is an alternative and safe surgical technique for patients undergoing surgical treatment for EOS. Without the risk of metallosis, like in other implant systems, and the need for replacement after 2 years of use, like in using magnetically controlled growing rods (MCGRs), the MICGR system can be used as a less-invasive procedure, allowing for the avoidance of many periodic invasive procedures in children with a wider opening of the spine (like in using standard growing rods), minimizing the number of planned hospitalizations, reducing the length of hospital stays, and reducing the physical and mental burdens on young patients, parents, and families.
Full article
(This article belongs to the Special Issue Personalized Management of Pediatric Orthopaedic Surgery)
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Open AccessReview
Hybrid Management of Dysphagia Lusoria with Tevar Implantation and Bilateral Subclavian Arteries Debranching: A Review of the Literature and a Case Report
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Ovidiu Stiru, Mircea Robu, Pavel Platon, Serban-Ion Bubenek-Turconi, Vlad Anton Iliescu and Catalina Parasca
J. Pers. Med. 2024, 14(6), 547; https://doi.org/10.3390/jpm14060547 - 21 May 2024
Abstract
Aberrant right subclavian artery (ARSA) causing dysphagia, the so-called “dysphagia lusoria”, is a frequent embryologic anomaly of the aortic arch. In symptomatic patients, studies report several management options including surgical, hybrid, and totally endovascular strategies. Hybrid techniques have the advantage of no chest
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Aberrant right subclavian artery (ARSA) causing dysphagia, the so-called “dysphagia lusoria”, is a frequent embryologic anomaly of the aortic arch. In symptomatic patients, studies report several management options including surgical, hybrid, and totally endovascular strategies. Hybrid techniques have the advantage of no chest opening with reduced morbidity, but the problem of the ARSA stump causing recurrent or persistent dysphagia remains challenging in some cases. We conducted a literature review on the management strategies of ARSA and presented the case of a 72-year-old female patient with ARSA and dysphagia managed with thoracic endovascular repair of the aorta (TEVAR) and bilateral carotid–subclavian artery bypass. This technique was chosen because of the severe calcifications at the level of ARSA origin that would make surgical ligation difficult, or if an occluder device not suitable. We think that a patient-tailored approach should be considered in cases of dysphagia lusoria, considering that a multitude of strategies are reported.
Full article
(This article belongs to the Special Issue Current Updates on Cardiovascular Diseases in Emergency Medicine)
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Open AccessBrief Report
The Roadmap toward Personalized Medicine: Challenges and Opportunities
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Caterina Cinti, Maria Giovanna Trivella, Michael Joulie, Hussein Ayoub and Monika Frenzel
J. Pers. Med. 2024, 14(6), 546; https://doi.org/10.3390/jpm14060546 - 21 May 2024
Abstract
In 2019, the International Consortium for Personalised Medicine (ICPerMed) developed a vision on how the use of personalized medicine (PM) approaches will promote “next-generation” medicine in 2030 more firmly centered on the individual’s personal characteristics, leading to improved health outcomes within sustainable healthcare
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In 2019, the International Consortium for Personalised Medicine (ICPerMed) developed a vision on how the use of personalized medicine (PM) approaches will promote “next-generation” medicine in 2030 more firmly centered on the individual’s personal characteristics, leading to improved health outcomes within sustainable healthcare systems through research, development, innovation, and implementation for the benefit of patients, citizens, and society. Nevertheless, there are significant hurdles that healthcare professionals, researchers, policy makers, and patients must overcome to implement PM. The ICPerMed aims to provide recommendations to increase stakeholders’ awareness on actionable measures to be implemented for the realization of PM. Starting with best practice examples of PM together with consultation of experts and stakeholders, a careful analysis that underlined hurdles, opportunities, recommendations, and information, aiming at developing knowledge on the requirements for PM implementation in healthcare practices, has been provided. A pragmatic roadmap has been defined for PM integration into healthcare systems, suggesting actions to overcome existing barriers and harness the potential of PM for improved health outcomes. In fact, to facilitate the adoption of PM by diverse stakeholders, it is mandatory to have a comprehensive set of resources tailored to stakeholder needs in critical areas of PM. These include engagement strategies, collaboration frameworks, infrastructure development, education and training programs, ethical considerations, resource allocation guidelines, regulatory compliance, and data management and privacy.
Full article
(This article belongs to the Section Evidence Based Medicine)
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Open AccessArticle
Automatic Classification and Visualization of Text Data on Rare Diseases
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Luis Rei, Joao Pita Costa and Tanja Zdolšek Draksler
J. Pers. Med. 2024, 14(5), 545; https://doi.org/10.3390/jpm14050545 - 20 May 2024
Abstract
More than 7000 rare diseases affect over 400 million people, posing significant challenges for medical research and healthcare. The integration of precision medicine with artificial intelligence offers promising solutions. This work introduces a classifier developed to discern whether research and news articles pertain
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More than 7000 rare diseases affect over 400 million people, posing significant challenges for medical research and healthcare. The integration of precision medicine with artificial intelligence offers promising solutions. This work introduces a classifier developed to discern whether research and news articles pertain to rare or non-rare diseases. Our methodology involves extracting 709 rare disease MeSH terms from Mondo and MeSH to improve rare disease categorization. We evaluate our classifier on abstracts from PubMed/MEDLINE and an expert-annotated news dataset, which includes news articles on four selected rare neurodevelopmental disorders (NDDs)—considered the largest category of rare diseases—from a total of 16 analyzed. We achieved F1 scores of 85% for abstracts and 71% for news articles, demonstrating robustness across both datasets and highlighting the potential of integrating artificial intelligence and ontologies to improve disease classification. Although the results are promising, they also indicate the need for further refinement in managing data heterogeneity. Our classifier improves the identification and categorization of medical information, essential for advancing research, enhancing information access, influencing policy, and supporting personalized treatments. Future work will focus on expanding disease classification to distinguish between attributes such as infectious and hereditary diseases, addressing data heterogeneity, and incorporating multilingual capabilities.
Full article
(This article belongs to the Special Issue Artificial Intelligence and Data Integration in Precision Health)
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Open AccessReview
Sudden Cardiac Death, Post-Mortem Investigation: A Proposing Panel of First Line and Second Line Genetic Tests
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Fabio Del Duca, Alessandro Ghamlouch, Alice Chiara Manetti, Gabriele Napoletano, Elena Sonnini, Biancamaria Treves, Alessandra De Matteis, Raffaele La Russa, Mary N. Sheppard, Vittorio Fineschi and Aniello Maiese
J. Pers. Med. 2024, 14(5), 544; https://doi.org/10.3390/jpm14050544 - 20 May 2024
Abstract
Investigating the causes of Sudden cardiac death (SCD) is always difficult; in fact, genetic cardiac conditions associated with SCD could be “silent” even during autopsy investigation. In these cases, it is important to exclude other aetiology and assist to ask for genetic investigations.
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Investigating the causes of Sudden cardiac death (SCD) is always difficult; in fact, genetic cardiac conditions associated with SCD could be “silent” even during autopsy investigation. In these cases, it is important to exclude other aetiology and assist to ask for genetic investigations. Herein, the purpose of this review is to collect the most-implicated genes in SCD and generate a panel with indications for first line and second line investigations. A systematic review of genetic disorders that may cause SCD in the general population was carried out according to the Preferred Reporting Item for Systematic Review (PRISMA) standards. We subsequently listed the genes that may be tested in the case of sudden cardiac death when the autopsy results are negative or with no evidence of acquired cardiac conditions. To make genetic tests more specific and efficient, it is useful and demanded to corroborate autopsy findings with the molecular investigation as evident in the panel proposed. The genes for first line investigations are HCM, MYBPC3, MYH7, TNNT2, TNNI3, while in case of DCM, the most implicated genes are LMNA and TTN, and in second line for these CDM, ACTN2, TPM1, C1QPB could be investigated. In cases of ACM/ARVC, the molecular investigation includes DSP, DSG2, DSC2, RYR2, PKP2. The channelopathies are associated with the following genes: SCN5A, KCNQ1, KCNH2, KCNE1, RYR2. Our work underlines the importance of genetic tests in forensic medicine and clinical pathology; moreover, it could be helpful not only to assist the pathologists to reach a diagnosis, but also to prevent other cases of SCD in the family of the descendant and to standardise the type of analysis performed in similar cases worldwide.
Full article
(This article belongs to the Special Issue Clinical Advances in Functional Genomics)
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Open AccessArticle
Ellipsoid Zone Integrity and Visual Function in Dry Age-Related Macular Degeneration
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Sari Yordi, Yavuz Cakir, Gagan Kalra, Hasan Cetin, Ming Hu, Joseph Abraham, Jamie Reese, Sunil K. Srivastava and Justis P. Ehlers
J. Pers. Med. 2024, 14(5), 543; https://doi.org/10.3390/jpm14050543 - 19 May 2024
Abstract
In this longitudinal retrospective image analysis, conducted on patients diagnosed with dry age-related macular degeneration (AMD) and 5 years of follow-up imaging data, the study aimed to investigate the relationship between ellipsoid zone (EZ) integrity on spectral domain optical coherence tomography (SD-OCT) and
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In this longitudinal retrospective image analysis, conducted on patients diagnosed with dry age-related macular degeneration (AMD) and 5 years of follow-up imaging data, the study aimed to investigate the relationship between ellipsoid zone (EZ) integrity on spectral domain optical coherence tomography (SD-OCT) and visual acuity (VA). Using a machine learning-enabled feature extraction tool, quantitative EZ parameters were derived from SD-OCT images. The analysis revealed significant correlations between EZ integrity metrics and VA. Eyes with excellent VA (≥20/25 Snellen) exhibited higher EZ integrity, including less EZ attenuation, thicker ellipsoid zone-retinal pigment epithelium (EZ-RPE) thickness, and higher EZ intensity, in contrast to eyes with worse VA (≤20/40 Snellen). Additionally, eyes with geographic atrophy (GA) in the foveal region displayed compromised EZ integrity compared to those without GA. Notably, baseline EZ integrity metrics were predictive of future VA loss. These findings suggest that quantitative SD-OCT measurements of EZ integrity could potentially detect early changes in dry AMD and serve as valuable indicators for predicting future functional outcomes. Furthermore, these measurements hold promise for use in clinical trial screenings, offering insights into the progression of the disease and its impact on visual acuity. This study underscores the importance of EZ integrity assessment in understanding and managing dry AMD.
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(This article belongs to the Section Disease Biomarker)
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Open AccessArticle
A Modern Multidisciplinary Method to Characterize Natural White Spot Lesions with 2D and 3D Assessments: A Preliminary Study
by
Flavia Vitiello, Giulia Orilisi, Valentina Notarstefano, Michele Furlani, Nicole Riberti, Tiziano Bellezze, Florence Carrouel, Angelo Putignano and Giovanna Orsini
J. Pers. Med. 2024, 14(5), 542; https://doi.org/10.3390/jpm14050542 - 19 May 2024
Abstract
In this preliminary study, a multidisciplinary method based on high-resolution analytical techniques (such as microcomputed tomography, Raman Microspectroscopy, scanning electron microscopy, and Vickers microhardness test) was exploited to evaluate the alterations that occur in human teeth at the initial stage of the carious
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In this preliminary study, a multidisciplinary method based on high-resolution analytical techniques (such as microcomputed tomography, Raman Microspectroscopy, scanning electron microscopy, and Vickers microhardness test) was exploited to evaluate the alterations that occur in human teeth at the initial stage of the carious lesion. To this purpose, six extracted molars displaying a natural white spot lesion (WSL) were investigated. Specific morphological, structural, and chemical parameters, such as the mineral density, indentation hardness, molecular and elemental composition, and surface micromorphology were obtained on the WSL, and the results were statistically compared (t-test, p < 0.05) to those of the sound enamel on the same tooth. In the WSL, with respect to the sound area, a decrease in the mineral density and crystallinity was detected together with differences in the molecular composition and surface microstructure, such as the occurrence of micropores and irregularities. Moreover, the elemental analysis highlighted in WSL showed a statistically significant decrease in Ca and P percentages. In conclusion, this multidisciplinary approach allows us to fully characterize the area of interest, providing a deeper knowledge of these enamel lesions, which could have important clinical implications.
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(This article belongs to the Special Issue Personalized Medicine in Dental and Oral Health)
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Long-Term Clinical Outcomes of 3D-Printed Subperiosteal Titanium Implants: A 6-Year Follow-Up
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Neculai Onică, Dana Gabriela Budală, Elena-Raluca Baciu, Cezara Andreea Onică, Gabriela Luminița Gelețu, Alice Murariu, Mihail Balan, Mihaela Pertea and Carmen Stelea
J. Pers. Med. 2024, 14(5), 541; https://doi.org/10.3390/jpm14050541 - 18 May 2024
Abstract
As an alternative to regenerative therapies, numerous authors have recently proposed bringing back subperiosteal implants. The aim of the study was to present our clinical experience with a subperiosteal jaw implant that needs minimal bone preparation and enables the rapid implantation of prosthetic
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As an alternative to regenerative therapies, numerous authors have recently proposed bringing back subperiosteal implants. The aim of the study was to present our clinical experience with a subperiosteal jaw implant that needs minimal bone preparation and enables the rapid implantation of prosthetic teeth in edentulous, atrophic alveolar bone. The research included 36 complete or partial edentulous patients (61 subperiostal implants) over a period of 6 years. To create the patient-specific subperiostal implants design, DentalCAD 3.0 Galway software (exocad GmbH, Darmstadt, Germany) was used and fabricated with a Mysint 100 (Sisma S.p.A., Piovene Rocchette, Italy) by titanium alloy powder. The results showed that only 9 of the 36 cases were successful at 6-year follow-up, while 27 cases had complications, including exposure of the metal frame (early or delayed), mobility of the device prior to the first 4–6 months, and late mobility due to recurrent infections and progressive structure exposure; 1 case failed for reasons unrelated to the device. This study indicated that the prudent application of fully customized subperiosteal jaw implants is a dependable alternative for the dental rehabilitation of atrophic edentulous cases that necessitate bone grafts for traditional fixed dental implant solutions.
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(This article belongs to the Special Issue New Updates in Oral and Maxillofacial Surgery)
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Open AccessFeature PaperArticle
Two-Year Outcomes for Patients with Non-ST-Elevation Acute Coronary Syndrome Treated with Magmaris and Absorb Bioresorbable Scaffolds in Large-Vessel Lesions
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Adrian Włodarczak, Piotr Rola, Szymon Włodarczak, Marek Szudrowicz, Katarzyna Giniewicz, Magdalena Łanocha, Joanna Jaroszewska-Pozorska, Mateusz Barycki, Łukasz Furtan, Michalina Kędzierska, Piotr Włodarczak, Adrian Doroszko and Maciej Lesiak
J. Pers. Med. 2024, 14(5), 540; https://doi.org/10.3390/jpm14050540 - 17 May 2024
Abstract
Background: The acute coronary syndrome (ACS) continues to be a fundamental indication for revascularization by percutaneous coronary intervention (PCI). Drug-eluting stent (DES) implantation remains a part of contemporary practice but permanent caging of the vascular structure with the metallic stent structure may increase
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Background: The acute coronary syndrome (ACS) continues to be a fundamental indication for revascularization by percutaneous coronary intervention (PCI). Drug-eluting stent (DES) implantation remains a part of contemporary practice but permanent caging of the vascular structure with the metallic stent structure may increase the rate of device-related adverse clinical events. As an alternative to classic metallic DESs, the bioresorbable scaffolds (BRSs) have emerged as a temporary vascular support technology. We evaluated the mid-term outcomes of two generations of bioresorbable scaffolds—Absorb (Abbott-Vascular, Chicago, IL, USA) and Magmaris (Biotronik, Germany)—in patients with non-ST-elevation ACS. Methods: The study cohort consisted of 193 subjects after Magmaris implantation and 160 patients following Absorb implantation in large-vessel lesions. Results: At 2 years, a significantly lower rate of a primary outcome (cardiac death, myocardial infarction, stent thrombosis) was observed with Magmaris (5.2% vs. 15%; p = 0.002). In addition, we observed a significantly lower rate of MI in the target vessel (2.6% vs. 9.4%; p = 0.009) and a lower rate of scaffold thrombosis (0% vs. 3.7%; p = 0.008). The TLF rate between the two groups was not significantly different. Conclusion: Magmaris demonstrated a good safety profile and more favorable clinical outcomes when compared to Absorb in patients with non-ST-elevation ACS.
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(This article belongs to the Special Issue New Perspectives and Current Challenges in Myocardial Infarction)
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Behavioral Disorders of Spatial Cognition in Patients with Mild Cognitive Impairment Due to Alzheimer’s Disease (The BDSC-MCI Project): Ecological Validity of the Corsi Learning Suvra-Span Test
by
Davide Maria Cammisuli, Gloria Marchesi, Virginia Bellocchio, Edoardo Nicolò Aiello, Barbara Poletti, Federico Verde, Vincenzo Silani, Nicola Ticozzi, Stefano Zago, Teresa Difonzo, Valeria Isella, Simone Pomati, Valentina Granese, Benedetta Vignati, Lorenzo Augusto Prete and Gianluca Castelnuovo
J. Pers. Med. 2024, 14(5), 539; https://doi.org/10.3390/jpm14050539 - 17 May 2024
Abstract
Background: Spatial navigation deficits are reported as early symptoms of Alzheimer’s disease (AD) alongside episodic memory ones. The aim of the present study was to ascertain whether neuropsychological deficits of visuospatial long-term memory can predict behavioral alterations during the navigation of older adults
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Background: Spatial navigation deficits are reported as early symptoms of Alzheimer’s disease (AD) alongside episodic memory ones. The aim of the present study was to ascertain whether neuropsychological deficits of visuospatial long-term memory can predict behavioral alterations during the navigation of older adults in novel urban environments along the normal aging–dementia continuum of the Alzheimer’s type. Methods: A total of 24 community-dwelling patients with Mild Cognitive Impairment (MCI) due to AD, 27 individuals with subjective cognitive decline (SCD), and 21 healthy controls were assessed in terms of their sequential egocentric and allocentric navigation abilities by using a modified version of the Detour Navigation Test, and neuropsychologically tested by the Corsi learning suvra-span (CLSS) test. Generalized linear models were adopted to verify whether the scores obtained by the three groups in the CLSS test predicted wrong turns and moments of hesitation during the navigation task, with the results presented as topographical disorientation scores. Results: Higher scores in the CLSS test predicted fewer wrong turns (b = −0.05; z = −2.91; p = 0.004; net of between-groups differences) and moments of hesitation for patients with MCI due to AD (b = −0.14; z = −2.43; p = 0.015), and individuals with SCD (b = −0.17; z = −3.85; p < 0.001). Conclusions: Since the CLSS test has been reported to be a reliable measure of ecological navigational abilities in the progression towards AD dementia, we recommend its use in clinical practice and highlight implications for future research.
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(This article belongs to the Special Issue Neuroscience: Biomarkers and Personalized Medicine)
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