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Volume 14
Issue 5
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J. Pers. Med., Volume 14, Issue 5 (May 2024) – 105 articles

Cover Story (view full-size image): Interleukin-8 (IL-8/CXCL8), an essential CXC chemokine, significantly influences psychoneuroimmunological processes and affects neurological and psychiatric health. It exerts a profound effect on immune cell activation and brain function, suggesting potential roles in both neuroprotection and neuroinflammation. IL-8 production is stimulated by several factors, including reactive oxygen species (ROS) known to promote inflammation and disease progression. Additionally, CXCL8 gene polymorphisms can alter IL-8 production, leading to potential differences in disease susceptibility, progression, and severity across populations. IL-8 levels vary among neuropsychiatric conditions, demonstrating sensitivity to psychosocial stressors and disease severity. IL-8 can be detected in blood circulation, cerebrospinal fluid (CSF), and urine, making it a promising candidate for a broad-spectrum biomarker. View this paper
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14 pages, 2433 KiB  
Article
Automatic Classification and Visualization of Text Data on Rare Diseases
by 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
Viewed by 998
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 [...] Read more.
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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15 pages, 1291 KiB  
Review
Sudden Cardiac Death, Post-Mortem Investigation: A Proposing Panel of First Line and Second Line Genetic Tests
by 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
Cited by 1 | Viewed by 1645
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. [...] Read more.
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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13 pages, 2579 KiB  
Article
Ellipsoid Zone Integrity and Visual Function in Dry Age-Related Macular Degeneration
by 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
Cited by 5 | Viewed by 1488
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 [...] Read more.
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. Full article
(This article belongs to the Section Disease Biomarker)
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12 pages, 5261 KiB  
Article
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
Viewed by 1037
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 [...] Read more.
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. Full article
(This article belongs to the Special Issue Personalized Medicine in Dental and Oral Health)
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13 pages, 3416 KiB  
Article
Long-Term Clinical Outcomes of 3D-Printed Subperiosteal Titanium Implants: A 6-Year Follow-Up
by 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
Cited by 5 | Viewed by 2026
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 [...] Read more.
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. Full article
(This article belongs to the Special Issue New Updates in Oral and Maxillofacial Surgery)
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13 pages, 3361 KiB  
Article
Two-Year Outcomes for Patients with Non-ST-Elevation Acute Coronary Syndrome Treated with Magmaris and Absorb Bioresorbable Scaffolds in Large-Vessel Lesions
by 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
Viewed by 936
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 [...] Read more.
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. Full article
(This article belongs to the Special Issue New Perspectives and Current Challenges in Myocardial Infarction)
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13 pages, 1866 KiB  
Article
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
Cited by 4 | Viewed by 1151
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 [...] Read more.
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. Full article
(This article belongs to the Special Issue Neuroscience: Biomarkers and Personalized Medicine)
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15 pages, 510 KiB  
Review
Preferred Imaging for Target Volume Delineation for Radiotherapy of Recurrent Glioblastoma: A Literature Review of the Available Evidence
by Francesco Cuccia, Fatemeh Jafari, Salvatore D’Alessandro, Giuseppe Carruba, Giuseppe Craparo, Giovanni Tringali, Livio Blasi and Giuseppe Ferrera
J. Pers. Med. 2024, 14(5), 538; https://doi.org/10.3390/jpm14050538 - 17 May 2024
Viewed by 1172
Abstract
Background: Recurrence in glioblastoma lacks a standardized treatment, prompting an exploration of re-irradiation’s efficacy. Methods: A comprehensive systematic review from January 2005 to May 2023 assessed the role of MRI sequences in recurrent glioblastoma re-irradiation. The search criteria, employing MeSH terms, targeted English-language, [...] Read more.
Background: Recurrence in glioblastoma lacks a standardized treatment, prompting an exploration of re-irradiation’s efficacy. Methods: A comprehensive systematic review from January 2005 to May 2023 assessed the role of MRI sequences in recurrent glioblastoma re-irradiation. The search criteria, employing MeSH terms, targeted English-language, peer-reviewed articles. The inclusion criteria comprised both retrospective and prospective studies, excluding certain types and populations for specificity. The PICO methodology guided data extraction, and the statistical analysis employed Chi-squared tests via MedCalc v22.009. Results: Out of the 355 identified studies, 81 met the criteria, involving 3280 patients across 65 retrospective and 16 prospective studies. The key findings indicate diverse treatment modalities, with linac-based photons predominating. The median age at re-irradiation was 54 years, and the median time interval between radiation courses was 15.5 months. Contrast-enhanced T1-weighted sequences were favored for target delineation, with PET-imaging used in fewer studies. Re-irradiation was generally well tolerated (median G3 adverse events: 3.5%). The clinical outcomes varied, with a median 1-year local control rate of 61% and a median overall survival of 11 months. No significant differences were noted in the G3 toxicity and clinical outcomes based on the MRI sequence preference or PET-based delineation. Conclusions: In the setting of recurrent glioblastoma, contrast-enhanced T1-weighted sequences were preferred for target delineation, allowing clinicians to deliver a safe and effective therapeutic option; amino acid PET imaging may represent a useful device to discriminate radionecrosis from recurrent disease. Future investigations, including the ongoing GLIAA, NOA-10, ARO 2013/1 trial, will aim to refine approaches and standardize methodologies for improved outcomes in recurrent glioblastoma re-irradiation. Full article
(This article belongs to the Section Personalized Therapy and Drug Delivery)
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32 pages, 840 KiB  
Review
Interactions and Trends of Interleukins, PAI-1, CRP, and TNF-α in Inflammatory Responses during the Perioperative Period of Joint Arthroplasty: Implications for Pain Management—A Narrative Review
by Arabela-Codruta Cocea and Cristian Ioan Stoica
J. Pers. Med. 2024, 14(5), 537; https://doi.org/10.3390/jpm14050537 - 17 May 2024
Cited by 1 | Viewed by 1323
Abstract
Inflammation during the perioperative period of joint arthroplasty is a critical aspect of patient outcomes, influencing both the pathophysiology of pain and the healing process. This narrative review comprehensively evaluates the roles of specific cytokines and inflammatory biomarkers in this context and their [...] Read more.
Inflammation during the perioperative period of joint arthroplasty is a critical aspect of patient outcomes, influencing both the pathophysiology of pain and the healing process. This narrative review comprehensively evaluates the roles of specific cytokines and inflammatory biomarkers in this context and their implications for pain management. Inflammatory responses are initiated and propagated by cytokines, which are pivotal in the development of both acute and chronic postoperative pain. Pro-inflammatory cytokines play essential roles in up-regulating the inflammatory response, which, if not adequately controlled, leads to sustained pain and impaired tissue healing. Anti-inflammatory cytokines work to dampen inflammatory responses and promote resolution. Our discussion extends to the genetic and molecular influences on cytokine production, which influence pain perception and recovery rates post-surgery. Furthermore, the role of PAI-1 in modulating inflammation through its impact on the fibrinolytic system highlights its potential as a therapeutic target. The perioperative modulation of these cytokines through various analgesic and anesthetic techniques, including the fascia iliac compartment block, demonstrates a significant reduction in pain and inflammatory markers, thus underscoring the importance of targeted therapeutic strategies. Our analysis suggests that a nuanced understanding of the interplay between pro-inflammatory and anti-inflammatory cytokines is required. Future research should focus on individualized pain management strategies. Full article
(This article belongs to the Special Issue Challenges and Opportunities in Personalized Management of Bone and Joint Infections)
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11 pages, 5292 KiB  
Article
Breast Vascularization and Its Implication in Breast Reduction and Mastopexy Surgery: Anatomical Study
by Ainhoa Salas-López, Carolina Morgado-Águila, Carlos López-de-Celis, Jacobo Rodríguez-Sanz, Sara Ortiz-Miguel and Albert Pérez-Bellmunt
J. Pers. Med. 2024, 14(5), 536; https://doi.org/10.3390/jpm14050536 - 17 May 2024
Viewed by 1103
Abstract
(1) Background: Breast reduction is one of the most frequently performed plastic surgeries in women worldwide. The Wise pattern breast reduction is one of the most frequent skin designs for this surgery. One key point of the surgery is to preserve a well-vascularized [...] Read more.
(1) Background: Breast reduction is one of the most frequently performed plastic surgeries in women worldwide. The Wise pattern breast reduction is one of the most frequent skin designs for this surgery. One key point of the surgery is to preserve a well-vascularized NAC by using different surgical pedicles. This study aims to test and update the anatomical knowledge of breast vascularization, the topographic and anatomical basis of the different surgical vascular pedicles, and the differences between the right and left sides. (2) Methods: A descriptive observational anatomical study was carried out on 15 breasts from 10 cryopreserved body donors. A dissection was performed by quadrants to know the affected arteries’ origin in the different patterns. (3) Results: The largest and most frequently dissected internal mammary perforator artery was in the second intercostal space. A total of 44.9% of the dissected perforators are located in the upper inner quadrant, compared to 53.5% in the lower quadrants. (4) Conclusions: The upper inner quadrant alone has the most arterial perforators. In contrast, the sum of the two lower quadrants represents the greatest vascularization of the breast, with a small difference between both. Full article
(This article belongs to the Special Issue Precision Medicine in Plastic Surgery and Reconstruction)
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21 pages, 1072 KiB  
Review
Review: A Contemporary, Multifaced Insight into Psoriasis Pathogenesis
by Rucsandra Cristina Dascălu, Andreea Lili Bărbulescu, Loredana Elena Stoica, Ștefan Cristian Dinescu, Cristina Elena Biță, Horațiu Valeriu Popoviciu, Răzvan Adrian Ionescu and Florentin Ananu Vreju
J. Pers. Med. 2024, 14(5), 535; https://doi.org/10.3390/jpm14050535 - 16 May 2024
Cited by 2 | Viewed by 2469
Abstract
Psoriasis is a chronic recurrent inflammatory autoimmune pathology with a significant genetic component and several interferences of immunological cells and their cytokines. The complex orchestration of psoriasis pathogenesis is related to the synergic effect of immune cells, polygenic alterations, autoantigens, and several other [...] Read more.
Psoriasis is a chronic recurrent inflammatory autoimmune pathology with a significant genetic component and several interferences of immunological cells and their cytokines. The complex orchestration of psoriasis pathogenesis is related to the synergic effect of immune cells, polygenic alterations, autoantigens, and several other external factors. The major act of the IL-23/IL-17 axis, strongly influencing the inflammatory pattern established during the disease activity, is visible as a continuous perpetuation of the pro-inflammatory response and keratinocyte activation and proliferation, leading to the development of psoriatic lesions. Genome-wide association studies (GWASs) offer a better view of psoriasis pathogenic pathways, with approximately one-third of psoriasis’s genetic impact on psoriasis development associated with the MHC region, with genetic loci located on chromosome 6. The most eloquent genetic factor of psoriasis, PSORS1, was identified in the MHC I site. Among the several factors involved in its complex etiology, dysbiosis, due to genetic or external stimulus, induces a burst of pro-inflammatory consequences; both the cutaneous and gut microbiome get involved in the psoriasis pathogenic process. Cutting-edge research studies and comprehensive insights into psoriasis pathogenesis, fostering novel genetic, epigenetic, and immunological factors, have generated a spectacular improvement over the past decades, securing the path toward a specific and targeted immunotherapeutic approach and delayed progression to inflammatory arthritis. This review aimed to offer insight into various domains that underline the pathogenesis of psoriasis and how they influence disease development and evolution. The pathogenesis mechanism of psoriasis is multifaceted and involves an interplay of cellular and humoral immunity, which affects susceptible microbiota and the genetic background. An in-depth understanding of the role of pathogenic factors forms the basis for developing novel and individualized therapeutic targets that can improve disease management. Full article
(This article belongs to the Special Issue Immune-Mediated Diseases)
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14 pages, 1410 KiB  
Article
Machine Learning Modeling to Predict Atrial Fibrillation Detection in Embolic Stroke of Undetermined Source Patients
by Chua Ming, Geraldine J. W. Lee, Yao Hao Teo, Yao Neng Teo, Emma M. S. Toh, Tony Y. W. Li, Chloe Yitian Guo, Jiayan Ding, Xinyan Zhou, Hock Luen Teoh, Swee-Chong Seow, Leonard L. L. Yeo, Ching-Hui Sia, Gregory Y. H. Lip, Mehul Motani and Benjamin YQ Tan
J. Pers. Med. 2024, 14(5), 534; https://doi.org/10.3390/jpm14050534 - 16 May 2024
Cited by 2 | Viewed by 1472
Abstract
Background: In patients with embolic stroke of undetermined source (ESUS), occult atrial fibrillation (AF) has been implicated as a key source of cardioembolism. However, only a minority acquire implantable cardiac loop recorders (ILRs) to detect occult paroxysmal AF, partly due to financial cost [...] Read more.
Background: In patients with embolic stroke of undetermined source (ESUS), occult atrial fibrillation (AF) has been implicated as a key source of cardioembolism. However, only a minority acquire implantable cardiac loop recorders (ILRs) to detect occult paroxysmal AF, partly due to financial cost and procedural inconvenience. Without the initiation of appropriate anticoagulation, these patients are at risk of increased ischemic stroke recurrence. Hence, cost-effective and accurate methods of predicting AF in ESUS patients are highly sought after. Objective: We aimed to incorporate clinical and echocardiography data into machine learning (ML) algorithms for AF prediction on ILRs in ESUS. Methods: This was a single-center cohort study that included 157 consecutive patients diagnosed with ESUS from October 2014 to October 2017 who had ILR evaluation. We developed four ML models, with hyperparameters tuned, to predict AF detection on an ILR. Results: The median age of the cohort was 67 (IQR 59–74) years old and the median monitoring duration was 1051 (IQR 478–1287) days. Of the 157 patients, 32 (20.4%) had occult AF detected on the ILR. Support vector machine predicted for AF with a 95% confidence interval area under the receiver operating characteristic curve (AUC) of 0.736–0.737, multilayer perceptron with an AUC of 0.697–0.708, XGBoost with an AUC of 0.697–0.697, and random forest with an AUC of 0.663–0.674. ML feature importance found that age, HDL-C, and admitting heart rate were important non-echocardiography variables, while peak mitral A-wave velocity and left atrial volume were important echocardiography parameters aiding this prediction. Conclusion: Machine learning modeling incorporating clinical and echocardiographic variables predicted AF in ESUS patients with moderate accuracy. Full article
(This article belongs to the Special Issue New Perspectives and Current Challenges in Myocardial Infarction)
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14 pages, 894 KiB  
Article
A Grounded Theory of Interdisciplinary Communication and Collaboration in the Outpatient Setting of the Hospital for Patients with Multiple Long-Term Conditions
by Emma A. Gans, Ursula W. de Ruijter, Agnes van der Heide, Suzanne A. van der Meijden, Frederiek van den Bos, Barbara C. van Munster and Janke F. de Groot
J. Pers. Med. 2024, 14(5), 533; https://doi.org/10.3390/jpm14050533 - 16 May 2024
Cited by 3 | Viewed by 2289
Abstract
Interdisciplinary communication and collaboration are crucial in the care of people with multiple long-term conditions (MLTCs) yet are often experienced as insufficient. Through the lens of complexity science, this study aims to explain how healthcare professionals (HCPs) adapt to emerging situations in the [...] Read more.
Interdisciplinary communication and collaboration are crucial in the care of people with multiple long-term conditions (MLTCs) yet are often experienced as insufficient. Through the lens of complexity science, this study aims to explain how healthcare professionals (HCPs) adapt to emerging situations in the care of patients with MLTC by examining interdisciplinary communication and collaboration in the outpatient hospital setting. We used the constant comparative method to analyze transcribed data from seven focus groups with twenty-one HCPs to generate a constructivist grounded theory of ‘interdisciplinary communication and collaboration in the outpatient setting of the hospital for patients with multiple long-term conditions’. Our theory elucidates the various pathways of communication and collaboration. Why, when, and how team members choose to collaborate influences if and to what degree tailored care is achieved. There is great variability and unpredictability to this process due to internalized rules, such as beliefs on the appropriateness to deviate from guidelines, and the presence of an interprofessional identity. We identified organizational structures that influence the dynamics of the care team such as the availability of time and financial compensation for collaboration. As we strive for tailored care for patients with MLTC, our theory provides promising avenues for future endeavors. Full article
(This article belongs to the Section Clinical Medicine, Cell, and Organism Physiology)
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11 pages, 1042 KiB  
Article
The Association of Serum Uric Acid with Risk of Obstructive Sleep Apnea: The Korean National Health and Nutrition Examination Survey 2019–2021
by Su-Lim Park, Jihye Lim and Ji-Ho Lee
J. Pers. Med. 2024, 14(5), 532; https://doi.org/10.3390/jpm14050532 - 16 May 2024
Viewed by 1196
Abstract
Upper airway collapse and apneas in obstructive sleep apnea (OSA) induce intermittent hypercapnia and hypoxia, eventually contributing to excessive uric acid production. This study aimed to evaluate the association between hyperuricemia and OSA in the general population via analysis of the eighth KNHANES [...] Read more.
Upper airway collapse and apneas in obstructive sleep apnea (OSA) induce intermittent hypercapnia and hypoxia, eventually contributing to excessive uric acid production. This study aimed to evaluate the association between hyperuricemia and OSA in the general population via analysis of the eighth KNHANES dataset (2019–2021). OSA risk was identified via the STOP-Bang questionnaire, with a score ≥3 indicating high risk. Among 11,981 total participants, 4572 (38.2%) had a high OSA risk. Participants with a high OSA risk had higher uric acid levels compared to those with a low risk (5.5 ± 1.4 mg/dL vs. 4.8 ± 1.2 mg/dL, p < 0.001). Serum uric acid levels were positively correlated with STOP-Bang score (r: 0.317, p < 0.001). Multivariate analysis revealed that hyperuricemia was associated with a high OSA risk after adjusting for confounders (odds ratio: 1.30, 95%CI: 1.11–1.53, p = 0.001). Therefore, serum uric acid levels are significantly higher in those with a high OSA risk and correlate with the risk of OSA. Further, hyperuricemia is an independently associated risk factor for high OSA risk. More research is warranted to evaluate the long-term clinical outcomes of hyperuricemia in OSA and to determine whether treatment targeting hyperuricemia is effective in the clinical course of OSA. Full article
(This article belongs to the Section Clinical Medicine, Cell, and Organism Physiology)
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11 pages, 376 KiB  
Article
Prognostic Value of Fibrosis 4 (FIB-4) Index in Sepsis Patients
by Tuna Albayrak and Beyza Yuksel
J. Pers. Med. 2024, 14(5), 531; https://doi.org/10.3390/jpm14050531 - 16 May 2024
Viewed by 1027
Abstract
Background: Sepsis remains a major health challenge worldwide, characterized by a dysregulated host response to infection, leading to high mortality and morbidity in intensive care units (ICUs). The Fibrosis 4 (FIB-4) index, originally developed to assess liver fibrosis in hepatitis C patients, has [...] Read more.
Background: Sepsis remains a major health challenge worldwide, characterized by a dysregulated host response to infection, leading to high mortality and morbidity in intensive care units (ICUs). The Fibrosis 4 (FIB-4) index, originally developed to assess liver fibrosis in hepatitis C patients, has recently been explored for its potential prognostic value in sepsis patients. Method: this study retrospectively analyzed 309 sepsis patients admitted to the Internal Medicine and An-aesthesia ICUs between 12 December 2021 and 15 December 2023 to investigate the relationship between FIB-4 levels, the Acute Physiology and Chronic Health Evaluation (APACHE), the Sequential Organ Failure Assessment (SOFA), and clinical outcomes. Results: This study found that higher FIB-4 measurements were statistically significantly associated with increased 28-day mortality, with a cut-off value of 4.9, providing a sensitivity of 54.92% and specificity of 74.25%. Logistic regression analysis indicated that elevated FIB-4 levels were a significant predictor of early mortality, suggesting that the FIB-4 index could serve as a valuable prognostic tool in assessing the severity and prognosis of sepsis patients. Conclusions: by elucidating the potential role of the FIB-4 index in sepsis prognosis, this study contributes to the ongoing efforts to improve risk stratification and enhance patient care in sepsis management. Full article
(This article belongs to the Special Issue Personalized Medicine in the ICU—2nd Edition)
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9 pages, 1214 KiB  
Article
Iris Pigmented Lesions and Risk of Cutaneous Melanoma: Case–Control Study in Lithuania
by Lukas Šemeklis, Laura Kapitanovaitė, Grinvydas Butrimas, Kamilija Briedė, Augustė Dubinskaitė, Reda Žemaitienė and Skaidra Valiukevičienė
J. Pers. Med. 2024, 14(5), 530; https://doi.org/10.3390/jpm14050530 - 15 May 2024
Cited by 1 | Viewed by 949
Abstract
The global incidence of cutaneous melanoma (CM) is rising, necessitating early detection and identification of risk factors across different populations. A case–control study with 180 patients with primary diagnosed CM and 182 healthy controls was conducted. Participants underwent ophthalmic and skin examinations, where [...] Read more.
The global incidence of cutaneous melanoma (CM) is rising, necessitating early detection and identification of risk factors across different populations. A case–control study with 180 patients with primary diagnosed CM and 182 healthy controls was conducted. Participants underwent ophthalmic and skin examinations, where the identification and counting of common melanocytic nevi (CMN) and atypical melanocytic nevi (AMN) was performed. During ophthalmic examination, high-resolution slit lamp iris images were taken. Images were categorized according to iris periphery, collaret, and freckles. There was no difference in iris periphery and collaret color between groups. However, blue/grey iris periphery and blue collaret with or without freckles were the most common patterns. The presence of pigmented iris lesions and 2–5 mm and ≥5 mm in diameter CMNs was strongly associated with CM risk. The evidence from this study indicates that blue or grey periphery and blue collaret iris pattern with iris freckles are 2.74 times higher in the CM group than controls. Further research is needed to explore iris patterns’ association with CM risk in diverse populations. Full article
(This article belongs to the Section Epidemiology)
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11 pages, 1323 KiB  
Article
Awareness of Proton Pump Inhibitor Adverse Events and Treatment Pattern Change According to Physician Practice: A National Questionnaire Study in Korea
by Yong Hoon Choi, Seung In Seo, Da Hyun Jung, Joon Sung Kim, Seung Young Kim, Hyun Chul Lim and Young Hoon Youn
J. Pers. Med. 2024, 14(5), 529; https://doi.org/10.3390/jpm14050529 - 15 May 2024
Cited by 1 | Viewed by 1030
Abstract
Although adverse events of proton pump inhibitors (PPIs) have been reported, there are few studies on physicians’ perceptions. We aimed to investigate physicians’ awareness of PPI-related adverse events and changes in treatment patterns according to their practice. We conducted an online survey of [...] Read more.
Although adverse events of proton pump inhibitors (PPIs) have been reported, there are few studies on physicians’ perceptions. We aimed to investigate physicians’ awareness of PPI-related adverse events and changes in treatment patterns according to their practice. We conducted an online survey of physicians using a 15-item questionnaire. The survey queried respondents’ demographic information, PPI prescription patterns, perceptions, and concerns on the reported PPI-related adverse events. Concerns regarding the adverse events of PPI were assessed by dividing them into possibilities and medical causality. Of the 450 respondents, 430 were specialists, and 232 were gastroenterologists. A total of 87.8% of the respondents were generally or well aware of the adverse effects of PPI, 29.1% considered side effects when prescribing PPI, and 14.6% explained them to patients. Specialists were more aware of the side effects of PPI than general practitioners (p = 0.005), and gastroenterologists were more aware of the side effects of PPI than non-gastroenterologists (p < 0.001). However, gastroenterologists explained less to patients (p = 0.001) and preferred to reduce the dose of PPI rather than discontinue it. The adverse events that were recognized as having the highest probability of occurrence and strongest association with PPI use were bone diseases, Clostridium difficile infection, gastrointestinal infection, pneumonia, and interactions with anti-thrombotic drugs. Physicians’ awareness of PPI-related adverse events and treatment patterns differed significantly according to their positions and practice. Although a number of adverse events of PPIs were reported, physicians seem to accept their significance differently according to their specialty and practice patterns. Full article
(This article belongs to the Section Clinical Medicine, Cell, and Organism Physiology)
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13 pages, 4708 KiB  
Article
Minimally Invasive Isolated and Hybrid Surgical Revascularization for Multivessel Coronary Disease: A Single-Center Long-Term Follow-Up
by Tiziano Torre, Alberto Pozzoli, Marco Valgimigli, Laura Anna Leo, Francesca Toto, Mirko Muretti, Sara Birova, Enrico Ferrari, Giovanni Pedrazzini and Stefanos Demertzis
J. Pers. Med. 2024, 14(5), 528; https://doi.org/10.3390/jpm14050528 - 15 May 2024
Cited by 1 | Viewed by 1113
Abstract
Introduction: Some evidence suggests that surgical minimally invasive (MIDCAB) and hybrid coronary revascularization (HCR) are safe and potentially effective at short-term follow-up. Data on long-term outcomes are more limited and inconclusive. Methods: Between February 2013 and December 2023, a total of 1997 patients [...] Read more.
Introduction: Some evidence suggests that surgical minimally invasive (MIDCAB) and hybrid coronary revascularization (HCR) are safe and potentially effective at short-term follow-up. Data on long-term outcomes are more limited and inconclusive. Methods: Between February 2013 and December 2023, a total of 1997 patients underwent surgical coronary artery revascularization at our institution, of whom, 92 (4.7%) received left anterior mini-thoracotomy access (MIDCAB), either isolated (N = 78) or in combination with percutaneous coronary intervention (N = 14, HCR group). Results: After a median follow-up of 75 months (range 3.1: 149 months), cardiac mortality was 0% while overall mortality was 3%, with one in-hospital mortality and two additional late deaths. Conversion to sternotomy happened in two patients (2.1%), and surgical re-explorations occurred in five patients (4.6%), of whom three for bleeding and two for graft failure. All patients received left internal mammary (LIMA) to left anterior descending artery (LAD) grafting (100%). In the HCR group, 10 patients (72%) showed percutaneous revascularization (PCI) after MIDCAB, showing PCI on a mean of 1.6 ± 0.6 vessels and implanting 2.1 ± 0.9 drug-eluting stents. Conclusions: MIDCAB, in isolation or in association with hybrid coronary revascularization, is associated with encouraging short- and long-term results in selected patients discussed within a dedicated heart-team. Full article
(This article belongs to the Special Issue Current Challenges and Personalized Treatment in Cardiovascular Disease)
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15 pages, 2808 KiB  
Article
Evaluation of Immunohistochemical Biomarkers in Diabetic Wistar Rats with Periodontal Disease
by Ioana Scrobota, Ioan Andrei Tig, Andrea Olivia Marcu, Georgiana Ioana Potra Cicalau, Liliana Sachelarie and Gilda Iova
J. Pers. Med. 2024, 14(5), 527; https://doi.org/10.3390/jpm14050527 - 15 May 2024
Viewed by 1077
Abstract
Background: The association of periodontal disease and diabetes is a subject of intense research in terms of etiopathology and treatment options. This research aimed to evaluate the modulation of the local inflammatory status by two natural extracts, curcumin (Cu) and rutin (R), in [...] Read more.
Background: The association of periodontal disease and diabetes is a subject of intense research in terms of etiopathology and treatment options. This research aimed to evaluate the modulation of the local inflammatory status by two natural extracts, curcumin (Cu) and rutin (R), in an experimentally induced diabetes and periodontal disease in Wistar rats. Methods: Fifty Wistar albino rats were randomly assigned to five groups: Control (C), Diabetes-associated Periodontal Disease (DP), Diabetes-associated Periodontal Disease treated with Curcumin (DPCu), Diabetes-associated Periodontal Disease treated with Rutin (DPR), and Diabetes-associated Periodontal Disease treated with both Curcumin and Rutin (DPCuR). Gingival samples were collected from all rats, and immunohistochemical markers CD3, CD20, and CD34 were evaluated to assess the local inflammatory infiltrate. Descriptive statistics were applied (SPSS24 Software, Armonk, NY, USA). Results: Rutin, alone or combined with Curcumin, reduced CD3-positive cell levels. Curcumin demonstrated superior efficacy in reducing CD20-positive cells. The combination of Curcumin and Rutin had the most important impact on both markers. Curcumin notably increased immature CD34-positive cell levels. Conclusions: Curcumin and Rutin, either alone or together, hold potential for reducing local inflammation in diabetes-induced periodontal disease in Wistar rats. Full article
(This article belongs to the Special Issue Recent Advances in Oral Diseases)
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12 pages, 1203 KiB  
Article
Ethnic and Gender Variations in Ischemic Stroke Patterns among Arab Populations in Northern Israel: A Preliminary Exploration towards Culturally Aware Personalized Stroke Care
by Chen Hanna Ryder, Carmit Gal, Gili Barkay, Shani Raveh Amsalem, Ziv Sarusi, Radi Shahien and Samih Badarny
J. Pers. Med. 2024, 14(5), 526; https://doi.org/10.3390/jpm14050526 - 15 May 2024
Viewed by 1107
Abstract
The Galilee region of Israel boasts a rich ethnic diversity within its Arab population, encompassing distinct Muslim, Christian, Druze, and Bedouin communities. This preliminary exploratory study uniquely examined potential ethnic and gender differences in ischemic stroke characteristics across these Arab subgroups, which are [...] Read more.
The Galilee region of Israel boasts a rich ethnic diversity within its Arab population, encompassing distinct Muslim, Christian, Druze, and Bedouin communities. This preliminary exploratory study uniquely examined potential ethnic and gender differences in ischemic stroke characteristics across these Arab subgroups, which are seldom investigated separately in Israel and are typically studied as a homogeneous “Arab” sector, despite significant variations in their ethnicity, culture, customs, and genetics. The current study aimed to comparatively evaluate stroke characteristics, including recurrence rates, severity, and subtypes, within and across these distinct ethnic groups and between genders. When examining the differences in stroke characteristics between ethnic groups, notable findings emerged. The Bedouin population exhibited significantly higher rates of recurrent strokes than Muslims (M = 0.55, SD = 0.85 vs. M = 0.25, SD = 0.56; p < 0.05). Large vessel strokes were significantly more prevalent among Christians (30%) than Druze (9.9%; p < 0.05). Regarding gender differences within each ethnic group, several disparities were observed. Druze women were six times more likely to experience moderate to severe strokes than their male counterparts (p < 0.05). Interestingly, Druze women also exhibited a higher representation of cardio-embolic stroke (19.8%) compared with Druze men (4.6%; p < 0.001). These findings on the heterogeneity in stroke characteristics across Arab ethnic subgroups and by gender underscore the need to reconsider the approach that views all ethnic groups comprising the Arab sector in Israel as a homogeneous population; instead, they should be investigated as distinct communities with unique stroke profiles, requiring tailored culturally aware community-based prevention programs and personalized therapeutic models. The identified patterns may guide future research to develop refined, individualized, and preventive treatment approaches targeting the distinct risk factors, healthcare contexts, and prevention needs of these diverse Arab populations. Full article
(This article belongs to the Topic Diagnosis and Management of Acute Ischemic Stroke)
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20 pages, 2795 KiB  
Review
Transforming the Management of Articular Fractures in the Foot: A Critical Examination of Current Methods and Future Directions: A Review
by Robert Daniel Dobrotă, Adrian Gheorghe Barbilian, Corina Sporea and Dumitru Ferechide
J. Pers. Med. 2024, 14(5), 525; https://doi.org/10.3390/jpm14050525 - 15 May 2024
Viewed by 1625
Abstract
This study provides a comprehensive examination of the current methodologies and potential strategies for the treatment of articular fractures of the foot. In the field of orthopedic healthcare, these fractures present a significant challenge due to their complex nature and the fact that [...] Read more.
This study provides a comprehensive examination of the current methodologies and potential strategies for the treatment of articular fractures of the foot. In the field of orthopedic healthcare, these fractures present a significant challenge due to their complex nature and the fact that they affect the routines of patients. The motivation behind this study is based on two main concepts. The first one is represented by the use of emerging medical technologies and personalized medicine to bring a significant transformation in the management of foot fractures and give a better quality of treatment that is accepted by the patient. However, because there are inequities in the availability of the necessary medical care and equipment, as well as uneven incorporation in clinical settings, new technologies cannot be used to treat these types of fractures. Regarding the second concept behind this study, it is indicated that although current treatment methods are essential, they have a number of shortcomings when it comes to properly addressing these types of injuries. An approach is needed that takes into account the biomechanical points of view and the particularities of each patient. This approach could be applied in all hospital settings. Through this study, we want to highlight the progress made in recent years in surgical techniques such as 3D printing, minimally invasive surgery (MIS), and biological products. However, in the application of this new discovery, new obstacles have been discovered that prevent the efficient treatment of these types of injuries. This study examines the effectiveness and limitations of current treatments, as well as how differences in healthcare, such as available equipment, training of medical staff, and technological advances, affect patient outcomes in everyday life. This research wishes to emphasize that continuous innovation, interdisciplinary collaboration, and the use of an optimal approach that is appropriate for each patient, are essential. This study aims to provide new insights and useful recommendations for future research and clinical practice. The main role of this research is to improve the quality of life of patients and increase the standards of care in this complex field, which is in permanent evolution. Full article
(This article belongs to the Section Methodology, Drug and Device Discovery)
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7 pages, 679 KiB  
Brief Report
F10 Gene Expression and Ethnic Disparities Present in Papillary Thyroid Carcinoma
by Tyrel Porter and Lilia Kucheryavykh
J. Pers. Med. 2024, 14(5), 524; https://doi.org/10.3390/jpm14050524 - 15 May 2024
Viewed by 1263
Abstract
Papillary thyroid carcinoma (PTC) presents a significant health concern, particularly among Hispanic women in the United States, who exhibit a disproportionately higher chance of developing an advanced disease when compared to the non-Hispanic population. Emerging evidence suggests coagulation factor X, encoded by the [...] Read more.
Papillary thyroid carcinoma (PTC) presents a significant health concern, particularly among Hispanic women in the United States, who exhibit a disproportionately higher chance of developing an advanced disease when compared to the non-Hispanic population. Emerging evidence suggests coagulation factor X, encoded by the F10 gene, has a potential role in inhibiting cancer cell migration. However, comprehensive investigations into the differential expression patterns of F10 in Hispanic versus non-Hispanic females remain limited. RNA-sequencing data were acquired from the TCGA database for white female patients, 166 non-Hispanic and 25 Hispanic. A statistically significant (p < 0.05) 2.06-fold increase in F10 expression levels was detected in disease-free tumors compared to recurrent PTC tumors. Furthermore, an increase in F10 gene expression levels was also observed, corresponding to approximately a 1.74-fold increase in non-Hispanic patients compared to Hispanic patients. The probability of tumor recurrence was 1.82 times higher in the cohort with low expression of F10 compared to the high-expression cohort, correlating with the lower disease-free rates observed in the Hispanic patient cohort when compared to non-Hispanics. This finding underscores the relevance of ethnic disparities in molecular profiles for understanding cancer susceptibility. Identifying F10 as a potential prognostic biomarker highlights avenues for targeted interventions and contributes to improving diagnostic and treatment strategies for diverse patient populations. Full article
(This article belongs to the Section Omics/Informatics)
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14 pages, 431 KiB  
Article
Ending an Odyssey? The Psychosocial Experiences of Parents after the Genetic Diagnosis of a Mitochondrial Disease in Children
by Oliver Heath, Emma Hammerl, Anna Spitzinger and Saskia B. Wortmann
J. Pers. Med. 2024, 14(5), 523; https://doi.org/10.3390/jpm14050523 - 14 May 2024
Viewed by 1424
Abstract
Obtaining a genetic diagnosis of a primary mitochondrial disease (PMD) is often framed as a diagnostic odyssey. Yet, even after receiving a diagnosis, parents of affected children experience ongoing therapeutic and prognostic uncertainty and considerable psychosocial challenges. Semi-structured interviews (N = 24) were [...] Read more.
Obtaining a genetic diagnosis of a primary mitochondrial disease (PMD) is often framed as a diagnostic odyssey. Yet, even after receiving a diagnosis, parents of affected children experience ongoing therapeutic and prognostic uncertainty and considerable psychosocial challenges. Semi-structured interviews (N = 24) were conducted with parents of 13 children (aged 2–19 years) with a genetically confirmed PMD. Paternal (N = 11) and maternal (N = 13) perspectives were obtained, and thematic analysis was performed on all interviews. A genetic diagnosis was valuable and empowering for parents, despite eliciting varied emotional responses. While the diagnosis helped focus management decisions, families often felt overwhelmed and unsupported in navigating the healthcare system. Most parents reported a serious impact on their romantic relationship. The sources of social support varied, with a preference for established friendship and family support networks over disease-specific community support groups. Most parents favored prenatal genetic testing in the event of a future pregnancy. This study provides insight into the lived experiences of parents after a genetic diagnosis of PMD in their children. The findings draw awareness to supportive care needs and highlight important gaps that should be addressed to ensure that parents feel supported within a holistic framework of management for PMDs. Full article
(This article belongs to the Topic Diagnosis, Management, and Prognostic Assessment of Chronic Disease)
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9 pages, 1998 KiB  
Study Protocol
Integration of Smart Home and Building Automation Systems in Virtual Reality and Robotics-Based Technological Environment for Neurorehabilitation: A Pilot Study Protocol
by Sara Federico, Mirko Zitti, Martina Regazzetti, Enrico Dal Pozzo, Błażej Cieślik, Alberto Pomella, Francesca Stival, Marco Pirini, Giorgia Pregnolato and Pawel Kiper
J. Pers. Med. 2024, 14(5), 522; https://doi.org/10.3390/jpm14050522 - 14 May 2024
Cited by 1 | Viewed by 1324
Abstract
Technological innovation has revolutionized healthcare, particularly in neurological rehabilitation, where it has been used to address chronic conditions. Smart home and building automation (SH&BA) technologies offer promising solutions for managing chronic disabilities associated with such conditions. This single group, pre-post longitudinal pilot study, [...] Read more.
Technological innovation has revolutionized healthcare, particularly in neurological rehabilitation, where it has been used to address chronic conditions. Smart home and building automation (SH&BA) technologies offer promising solutions for managing chronic disabilities associated with such conditions. This single group, pre-post longitudinal pilot study, part of the H2020 HosmartAI project, aims to explore the integration of smart home technologies into neurorehabilitation. Eighty subjects will be enrolled from IRCCS San Camillo Hospital (Venice, Italy) and will receive rehabilitation treatment through virtual reality (VR) and robotics devices for 15 h per day, 5 days a week for 3 weeks in the HosmartAI Room (HR), equipped with SH&BA devices measuring the environment. The study seeks to optimize patient outcomes and refine rehabilitation practices. Findings will be disseminated through peer-reviewed publications and scientific meetings, contributing to advancements in neurological rehabilitation and guiding future research. Full article
(This article belongs to the Special Issue Advances in Emerging Technologies for Rehabilitation: Personalized Perspective)
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14 pages, 1112 KiB  
Protocol
Emotional State Measurement Trial (EMOPROEXE): A Protocol for Promoting Exercise in Adults and Children with Cerebral Palsy
by Isabel M. Gómez-González, Juan A. Castro-García, Manuel Merino-Monge, Gemma Sánchez-Antón, Foad Hamidi, Alejandro Mendoza-Sagrera and Alberto J. Molina-Cantero
J. Pers. Med. 2024, 14(5), 521; https://doi.org/10.3390/jpm14050521 - 14 May 2024
Viewed by 1075
Abstract
Background: The protocol described in this paper is part of a research project coordinated between three Spanish universities, where a technology aimed at improving the quality of life of people with cerebral palsy will be developed. Part of the proposed technology will consist [...] Read more.
Background: The protocol described in this paper is part of a research project coordinated between three Spanish universities, where a technology aimed at improving the quality of life of people with cerebral palsy will be developed. Part of the proposed technology will consist of an interface and a series of applications to increase motivation for daily physical activity. The basis of these developments is the measurement of the emotional state of the subjects. Methods: The experimental protocol is designed with two research objectives, on the one hand to identify the emotional state through physiological signals, and on the other to determine whether music can be a motivating factor to promote physical activity. It is specifically designed for subjects with cerebral palsy, taking into account the special characteristics of this population. These are people with whom it is difficult to use questionnaires to have a basis to contrast with the measured physiological signals, so measurements must be taken in carefully chosen daily-life situations. Discussion: We hope our findings show which physiological parameters are the most robust to measure the emotional state and how to design rehabilitation and physical activity promotion routines that are motivating, in addition to being able to avoid risk factors during the performance of these routines. Trial registration: NCT05621057. Full article
(This article belongs to the Section Methodology, Drug and Device Discovery)
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16 pages, 1270 KiB  
Systematic Review
Clinical Outcome of Colorectal Cancer Patients with Concomitant Hypertension: A Systematic Review and Meta-Analysis
by Daniel Sur, Constantin Ionut Coroama, Alessandro Audisio, Roberta Fazio, Maria Coroama and Cristian Virgil Lungulescu
J. Pers. Med. 2024, 14(5), 520; https://doi.org/10.3390/jpm14050520 - 14 May 2024
Viewed by 1219
Abstract
Background: Arterial hypertension is regarded as a possible biomarker of treatment efficacy in colorectal cancer. Also, extended anti-angiogenic use in the metastatic treatment of the colorectal neoplasm may result in elevated blood pressure. We carried out a systematic review and meta-analysis to assess [...] Read more.
Background: Arterial hypertension is regarded as a possible biomarker of treatment efficacy in colorectal cancer. Also, extended anti-angiogenic use in the metastatic treatment of the colorectal neoplasm may result in elevated blood pressure. We carried out a systematic review and meta-analysis to assess the clinical outcome of colorectal cancer patients with concomitant hypertension (HTN). Methods: We conducted a systematic search on Embase, Web of Science, Scopus, PubMed (Medline), the Cochrane Library, and CINAHL from inception until October 2023 for articles that addressed the relationship between HTN and progressive free survival (PFS), overall survival (OS), and overall response rate (ORR) for the first and second line of systemic therapy in patients with metastatic colorectal cancer. Results: Eligibility criteria were met by 16 articles out of 802 screened studies. Pooled analysis showed that HTN was associated with significantly improved PFS (HR: 0.507, 95% CI: 0.460–0.558, p ≤ 0.001) and OS (HR: 0.677, 95% CI: 0.592–0.774, p ≤ 0.001) in patients with metastatic colorectal cancer. In addition, the pooled RR of HTN for the ORR (RR: 1.28, 95% CI: 1.108–1.495, p = 0.001) suggests that HTN could be a predictive factor of ORR in patients with metastatic colorectal cancer. Conclusions: Elevated blood pressure is associated with better clinical outcomes in patients with metastatic colorectal cancer. Full article
(This article belongs to the Special Issue Precision Medicine for Digestive Diseases)
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14 pages, 1599 KiB  
Article
Deciphering the Link: Correlating REM Sleep Patterns with Depressive Symptoms via Consumer Wearable Technology
by Cătălina Angela Crișan, Roland Stretea, Maria Bonea, Vadim Fîntînari, Ioan Marian Țața, Alexandru Stan, Ioana Valentina Micluția, Răzvan Mircea Cherecheș and Zaki Milhem
J. Pers. Med. 2024, 14(5), 519; https://doi.org/10.3390/jpm14050519 - 14 May 2024
Cited by 1 | Viewed by 1472
Abstract
This study investigates the correlation between REM sleep patterns, as measured by the Apple Watch, and depressive symptoms in an undiagnosed population. Employing the Apple Watch for data collection, REM sleep duration and frequency were monitored over a specified period. Concurrently, participants’ depressive [...] Read more.
This study investigates the correlation between REM sleep patterns, as measured by the Apple Watch, and depressive symptoms in an undiagnosed population. Employing the Apple Watch for data collection, REM sleep duration and frequency were monitored over a specified period. Concurrently, participants’ depressive symptoms were evaluated using standardized questionnaires. The analysis, primarily using Spearman’s correlation, revealed noteworthy findings. A significant correlation was observed between an increased REM sleep proportion and higher depressive symptom scores, with a correlation coefficient of 0.702, suggesting a robust relationship. These results highlight the potential of using wearable technology, such as the Apple Watch, in early detection and intervention for depressive symptoms, suggesting that alterations in REM sleep could serve as preliminary indicators of depressive tendencies. This approach offers a non-invasive and accessible means to monitor and potentially preempt the progression of depressive disorders. This study’s implications extend to the broader context of mental health, emphasizing the importance of sleep assessment in routine health evaluations, particularly for individuals exhibiting early signs of depressive symptoms. Full article
(This article belongs to the Special Issue Sleep Medicine in Personalized Medicine)
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12 pages, 1128 KiB  
Systematic Review
Misdiagnosis and Clinical Insights into Acral Amelanotic Melanoma—A Systematic Review
by Fortunato Cassalia, Andrea Danese, Enrico Cocchi, Elisabetta Danese, Francesca Ambrogio, Gerardo Cazzato, Marcodomenico Mazza, Anna Zambello, Anna Belloni Fortina and Davide Melandri
J. Pers. Med. 2024, 14(5), 518; https://doi.org/10.3390/jpm14050518 - 13 May 2024
Cited by 3 | Viewed by 1677
Abstract
Background: Acral amelanotic melanomas (AAMs), a rare subset of melanomas located on acral sites such as the palms, soles, and subungual areas, are diagnostically challenging due to their lack of typical pigmentation and often benign clinical appearance. Misdiagnosis is common, leading to delays [...] Read more.
Background: Acral amelanotic melanomas (AAMs), a rare subset of melanomas located on acral sites such as the palms, soles, and subungual areas, are diagnostically challenging due to their lack of typical pigmentation and often benign clinical appearance. Misdiagnosis is common, leading to delays in treatment and potentially worse outcomes. This systematic review aims to synthesise evidence on cases of AAM initially misdiagnosed as other conditions, to better understand their clinical and epidemiological characteristics, diagnostic pitfalls, and management strategies. Methods: A comprehensive search of the MEDLINE/PubMed, EMBASE, and SCOPUS databases was conducted up to March 2024. Case reports and small case series of AAMs initially misdiagnosed as other conditions were included. Data on patient demographics, clinical presentation, and diagnostic methods were collected and analyzed. Results: Of the 152 records identified, 26 cases from 23 articles met the inclusion criteria. A demographic analysis revealed that the gender distribution appears to be perfectly balanced, with an age range of 38 to 91 years. Misdiagnoses included non-healing ulcers or traumatic lesions (37.5%), benign proliferative lesions (29.2%) and infectious lesions (20.8%). The foot was the most affected site (53.8%). Notably, a histological evaluation was performed in 50% of cases involving the upper extremities, in contrast to only 7.1% of cases involving the foot and 0% of cases of the heel. This discrepancy suggests a reluctance to perform biopsies in the lower extremities, which may contribute to a higher misdiagnosis rate in these areas. Conclusions: The underutilization of biopsy in the diagnosis of lower extremity lesions contributes significantly to the misdiagnosis and delay in treatment of AAMs. Especially when the clinical assessment and dermoscopy are inconclusive, biopsies of suspicious lesions are essential. Immunohistochemistry and markers such as PRAME are critical in differentiating melanoma from other malignancies such as clear cell sarcoma. This review highlights the need for increased vigilance and a proactive diagnostic approach to increase early detection rates and improve prognostic outcomes. Full article
(This article belongs to the Special Issue Advances in Personalized Diagnosis and Treatment in Dermatology)
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9 pages, 487 KiB  
Communication
Identifying Suitable Patients for Overcoming Androgen Deprivation Monotherapy in De Novo Metastatic Hormone-Sensitive Prostate Cancer
by Donghyun Lee, Bumjin Lim, Tuan Thanh Nguyen and Se Young Choi
J. Pers. Med. 2024, 14(5), 517; https://doi.org/10.3390/jpm14050517 - 13 May 2024
Viewed by 1374
Abstract
Background: Although metastatic hormone-sensitive prostate cancer (mHSPC) treatments have evolved, androgen deprivation therapy (ADT) remains a widely used regimen. Therefore, this study sought patients who did not progress to castration-resistant prostate cancer (CRPC) but received ADT monotherapy and factors affecting overall survival (OS) [...] Read more.
Background: Although metastatic hormone-sensitive prostate cancer (mHSPC) treatments have evolved, androgen deprivation therapy (ADT) remains a widely used regimen. Therefore, this study sought patients who did not progress to castration-resistant prostate cancer (CRPC) but received ADT monotherapy and factors affecting overall survival (OS) in de novo mHSPC. Methods: De novo mHSPC patients who received ADT treatment were included. ADT included luteinizing hormone-releasing hormone agonists with or without anti-androgen. The total cohort was divided into two groups relative to CRPC progression within two years. Logistic analysis was used to identify factors that did not progress CRPC within two years. Cox regression was used to assess the independent predictors for OS. Results: The total cohort was divided into the no-CRPC within two years group (n = 135) and the CRPC within two years group (n = 126). Through multivariate logistic analysis, the life expectancy (odds ratio [OR] 0.95, 95% CI 0.91–0.99, p = 0.014) and Gleason scores (≥9 vs. ≤8; OR 0.43, 95% CI 0.24–0.75, p = 0.003) were associated with the group without castration-resistant prostate cancer progression within two years. The multivariate Cox model revealed that life expectancy (hazard ratio [HR] 0.951, 95% CI 0.904–0.999, p = 0.0491), BMI (HR 0.870, 95% CI 0.783–0.967, p = 0.0101), and CCI (≥2 vs. <2; HR 2.018, 95% CI 1.103–3.693, p = 0.0227) were significant predictive factors for OS. Conclusions: Patients with long life expectancy and a Gleason score of 9 or more were more likely to develop mCRPC while alive. Patients with short life expectancy, low BMI, and worsening comorbidity were more likely to die before progressing to CRPC. Although intensified treatment is essential for oncologic outcomes in mHSPC, shared decision making is integral for patients who may not benefit from this treatment. Full article
(This article belongs to the Section Clinical Medicine, Cell, and Organism Physiology)
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Article
Detailed Radiomorphometric Analysis of the Surgical Corridor for the Suprageniculate Approach
by Tomasz Wojciechowski, Nicola Bisi, Kazimierz Szopiński and Daniele Marchioni
J. Pers. Med. 2024, 14(5), 516; https://doi.org/10.3390/jpm14050516 - 12 May 2024
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Abstract
Background: The suprageniculate fossa (SGF) is located between the geniculate ganglion, the middle cranial fossa (MCF) and the anterior semicircular canal (ASCC). An endoscopic transcanal approach has been recently proposed to treat the different lesions in this area. The aim of the study [...] Read more.
Background: The suprageniculate fossa (SGF) is located between the geniculate ganglion, the middle cranial fossa (MCF) and the anterior semicircular canal (ASCC). An endoscopic transcanal approach has been recently proposed to treat the different lesions in this area. The aim of the study is to describe the anatomical pathway of this approach by measuring the dimensions of its boundaries while checking their correlation with the pneumatization of the SGF area. Methods: This is a retrospective anatomical analysis of Cone Beam CT scans of 80 patients, for a total of 160 temporal bones analyzed. Two checkpoints were measured for the SGF route, as an internal and an external window. These are triangles between the MCF dura, the geniculate ganglion and the ASCC on parasagittal and axial planes. The pneumatization of the SGF was also assessed, classified and correlated with the measured dimensions. Results: The depth of the SGF was 7.5 ± 1.8 mm. The width of the external window was 7.5 ± 1.9, 5.6 ± 2.4 and 1.6 ± 1.6 mm for the posterior, middle and anterior points of measurement, respectively. The height of the internal window was 7.6 ± 1.2, 4.5 ± 1.5 and 1.7 ± 1.7 mm for the posterior, middle and anterior points of measurement, respectively. Type A pneumatization was found in 87 cases, type B in 34 and type C in 39. The degree of pneumatization directly correlated to the depth and height of the fossa. Conclusions: The suprageniculate approach route is defined by the internal and external windows which should be evaluated during a pre-surgery imaging assessment. The detailed anatomy of the approach and the novel classification of the pneumatization of the SGF are here described which may be useful to plan a safer procedure with minimal complications. Full article
(This article belongs to the Special Issue Personalized Medicine in Otolaryngology: Special Topic Otology—2nd Edition)
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