Journal of Personalized Medicine

14 pages, 2916 KiB

Open AccessArticle

Developing and Validating a Nomogram Model for Predicting Ischemic Stroke Risk

by Li Zhou, Youlin Wu, Jiani Wang, Haiyun Wu, Yongjun Tan, Xia Chen, Xiaosong Song, Yilin Wang and Qin Yang

J. Pers. Med. 2024, 14(7), 777; https://doi.org/10.3390/jpm14070777 - 22 Jul 2024

Viewed by 547

Abstract

Background and purpose: Clinically, the ability to identify individuals at risk of ischemic stroke remains limited. This study aimed to develop a nomogram model for predicting the risk of acute ischemic stroke. Methods: In this study, we conducted a retrospective analysis [...] Read more.

Background and purpose: Clinically, the ability to identify individuals at risk of ischemic stroke remains limited. This study aimed to develop a nomogram model for predicting the risk of acute ischemic stroke. Methods: In this study, we conducted a retrospective analysis on patients who visited the Department of Neurology, collecting important information including clinical records, demographic characteristics, and complete hematological tests. Participants were randomly divided into training and internal validation sets in a 7:3 ratio. Based on their diagnosis, patients were categorized as having or not having ischemic stroke (ischemic and non-ischemic stroke groups). Subsequently, in the training set, key predictive variables were identified through multivariate logistic regression and least absolute shrinkage and selection operator (LASSO) regression methods, and a nomogram model was constructed accordingly. The model was then evaluated on the internal validation set and an independent external validation set through area under the receiver operating characteristic curve (AUC-ROC) analysis, a Hosmer-Lemeshow goodness-of-fit test, and decision curve analysis (DCA) to verify its predictive efficacy and clinical applicability. Results: Eight predictors were identified: age, smoking status, hypertension, diabetes, atrial fibrillation, stroke history, white blood cell count, and vitamin B12 levels. Based on these factors, a nomogram with high predictive accuracy was constructed. The model demonstrated good predictive performance, with an AUC-ROC of 0.760 (95% confidence interval [CI]: 0.736–0.784). The AUC-ROC values for internal and external validation were 0.768 (95% CI: 0.732–0.804) and 0.732 (95% CI: 0.688–0.777), respectively, proving the model’s capability to predict the risk of ischemic stroke effectively. Calibration and DCA confirmed its clinical value. Conclusions: We constructed a nomogram based on eight variables, effectively quantifying the risk of ischemic stroke. Full article

(This article belongs to the Section Epidemiology)

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16 pages, 1665 KiB

Open AccessReview

Thyroid Eye Disease: Advancements in Orbital and Ocular Pathology Management

by Anna Scarabosio, Pier Luigi Surico, Rohan Bir Singh, Vlad Tereshenko, Mutali Musa, Fabiana D’Esposito, Andrea Russo, Antonio Longo, Caterina Gagliano, Edoardo Agosti, Etash Jhanji and Marco Zeppieri

J. Pers. Med. 2024, 14(7), 776; https://doi.org/10.3390/jpm14070776 - 22 Jul 2024

Cited by 1 | Viewed by 665

Abstract

Thyroid Eye Disease (TED) is a debilitating autoimmune condition often associated with thyroid dysfunction, leading to significant ocular and orbital morbidity. This review explores recent advancements in the management of TED, focusing on both medical and surgical innovations. The introduction of Teprotumumab, the [...] Read more.

Thyroid Eye Disease (TED) is a debilitating autoimmune condition often associated with thyroid dysfunction, leading to significant ocular and orbital morbidity. This review explores recent advancements in the management of TED, focusing on both medical and surgical innovations. The introduction of Teprotumumab, the first FDA-approved drug specifically for TED, marks a pivotal development in medical therapy. Teprotumumab targets the insulin-like growth factor-1 receptor (IGF-1R), effectively reducing inflammation and tissue remodeling. Clinical trials demonstrate its efficacy in reducing proptosis and improving quality of life, making it a cornerstone in the treatment of active, moderate-to-severe TED. Surgical management remains critical for patients with chronic TED or those unresponsive to medical therapy. Advancements in orbital decompression surgery, including image-guided and minimally invasive techniques, offer improved outcomes and reduced complications. Innovations in eyelid and strabismus surgery enhance functional and cosmetic results, further improving patient satisfaction. The management of TED necessitates a multidisciplinary approach involving endocrinologists, ophthalmologists, oculoplastic surgeons, radiologists, and other specialists. This collaborative strategy ensures comprehensive care, addressing the diverse aspects of TED from thyroid dysfunction to ocular health and psychological well-being. Future directions in TED treatment include emerging pharmacological therapies targeting different aspects of the disease’s pathophysiology and advanced surgical techniques aimed at enhancing precision and safety. This review underscores the importance of a personalized, multidisciplinary approach in managing TED, highlighting current advancements, and exploring potential future innovations to improve patient outcomes and quality of life. Full article

(This article belongs to the Special Issue New Advances in Diagnostic and Surgical Treatment of Ocular Diseases)

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16 pages, 2693 KiB

Open AccessReview

Blocking the IL-4/IL-13 Axis versus the JAK/STAT Pathway in Atopic Dermatitis: How Can We Choose?

by Laura Calabrese, Martina D’Onghia, Laura Lazzeri, Giovanni Rubegni and Elisa Cinotti

J. Pers. Med. 2024, 14(7), 775; https://doi.org/10.3390/jpm14070775 - 22 Jul 2024

Viewed by 853

Abstract

Atopic dermatitis (AD) is an immune-mediated skin disorder with a chronic-relapsing course and a multifactorial pathogenesis. In contrast to the traditional concept of AD as solely a type 2 immune-activated disease, new findings highlight the disease as highly heterogeneous, as it can be [...] Read more.

Atopic dermatitis (AD) is an immune-mediated skin disorder with a chronic-relapsing course and a multifactorial pathogenesis. In contrast to the traditional concept of AD as solely a type 2 immune-activated disease, new findings highlight the disease as highly heterogeneous, as it can be classified into variable phenotypes based on clinical/epidemiological or molecular parameters. For many years, the only therapeutic option for moderate–severe AD was traditional immunosuppressive drugs. Recently, the area of systemic therapy of AD has significantly flourished, and many new substances are now marketed, licensed, or in the last step of clinical development. Biological agents and small molecules have enriched the therapeutic armamentarium of moderate-to-severe AD, such as dupilumab, tralokinumab, lebrikizumab (monoclonal antibodies targeting the IL-4/13 pathway), abrocitinib, upadacitinib, and baricitinib (JAK inhibitors). Indeed, the AD treatment paradigm is now split into two main approaches: targeting the IL-4/13 axis or the JAK/STAT pathway. Both approaches are valid and have strong evidence of preclinical and clinical efficacy. Therefore, the choice between the two can often be difficult and represents a major challenge for dermatologists. Indeed, several important factors must be taken into account, such as the heterogeneity of AD and its classification in phenotypes, patients’ comorbidities, age, and personal preferences. The aim of our review is to provide an overview of the clinical and molecular heterogeneities of AD and to explore the factors and parameters that, in clinical practice, may help inform clinical decision-making. Full article

(This article belongs to the Special Issue Personalized Treatment and Management in Dermatology)

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19 pages, 335 KiB

Open AccessReview

The Impact of Chromosomal Mosaicisms on Prenatal Diagnosis and Genetic Counseling—A Narrative Review

by Mariela Sanda Militaru, Ioana-Mădălina Babliuc, Vanesa-Larisa Bloaje-Florică, Valentin-Adrian Danci, Iulia Filip-Deac, Enikő Kutasi, Vasile Simon, Mihai Militaru and Andreea Cătană

J. Pers. Med. 2024, 14(7), 774; https://doi.org/10.3390/jpm14070774 - 21 Jul 2024

Viewed by 611

Abstract

Genetic disorders represent a high-impact diagnosis for both patients and their families. Prenatal screening methods and, when recommended, genetic testing allow parents to make informed decisions about the course a pregnancy is going to take. Although offering certainty about the potential evolution and [...] Read more.

Genetic disorders represent a high-impact diagnosis for both patients and their families. Prenatal screening methods and, when recommended, genetic testing allow parents to make informed decisions about the course a pregnancy is going to take. Although offering certainty about the potential evolution and prognosis of the pregnancy, and then the newborn, is usually not possible, genetic counseling can offer valuable insights into genetic disorders. Chromosomal mosaicisms are genetic anomalies that affect only some cell lines in either the fetus or the placenta or both. They can affect autosomal or heterosomal chromosomes, and they can be either numerical or structural. The prognosis seems to be more severe if the genetic alterations are accompanied by malformations visible in ultrasounds. Several genetic techniques can be used to diagnose certain mosaicisms, depending on their nature. A novel approach in prenatal care is non-invasive prenatal screening (NIPS), also known as non-invasive prenatal testing (NIPT), which, although it does not always have diagnostic value, can provide valuable information about potential genetic anomalies, especially numerical, with high sensitivity (Se). Full article

(This article belongs to the Special Issue Personalized Approaches to Prenatal Screening and Diagnosis)

15 pages, 3026 KiB

Open AccessSystematic Review

Is the Timing of Surgery a Sufficient Predictive Factor for Outcomes in Patients with Proximal Femur Fractures? A Systematic Review

by Mihai Rădulescu, Bogdan-Radu Necula, Sandu Aurel Mironescu, Mihai Dan Roman, Alexander Schuh and Radu-Dan Necula

J. Pers. Med. 2024, 14(7), 773; https://doi.org/10.3390/jpm14070773 - 21 Jul 2024

Viewed by 569

Abstract

(1) Background: Hip fractures are currently recognized as major public health problems, raising many issues in terms of both patients’ quality of life and the cost associated with caring for this type of fracture. Many authors debate whether to operate as soon as [...] Read more.

(1) Background: Hip fractures are currently recognized as major public health problems, raising many issues in terms of both patients’ quality of life and the cost associated with caring for this type of fracture. Many authors debate whether to operate as soon as possible or to postpone surgery until the patient is stable. The purpose of this review was to review the literature and obtain additional information about the moment of surgery, the time to surgery, length of hospital stay, and how all of these factors influence patient mortality and complications. (2) Methods: The systematic search was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) and PICO guidelines, using the Google Scholar platform, for articles published between 2015 and 2023. Quality assessment was performed. (3) Results: After applying the inclusion criteria, 20 articles were included in the final list. Those who had surgery within 48 h had lower in-hospital and 30-day mortality rates than those who operated within 24 h. The American Society of Anesthesiologists (ASA) score is an important predictive factor for surgical delay, length of hospital stay (LOS), complications, and mortality. (4) Conclusions: Performing surgery in the first 48 h after admission is beneficial to patients after medical stabilization. Avoidance of delayed surgery will improve postoperative complications, LOS, and mortality. Full article

(This article belongs to the Special Issue Personalized Medicine in Orthopedics and Traumatology)

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16 pages, 256 KiB

Open AccessArticle

Differences in Person-Centered Care in Fetal Care Centers: Results from the U.S. Pilot Study of the PCC-FCC Scale

by Abigail B. Wilpers, Katie Francis, Amy B. Powne, Lonnie Somers, Yunyi Ren, Katherine Kohari and Scott A. Lorch

J. Pers. Med. 2024, 14(7), 772; https://doi.org/10.3390/jpm14070772 - 20 Jul 2024

Viewed by 529

Abstract

Objective: We report findings from a U.S. mixed-methods pilot study of the Person-Centered Care in Fetal Care Centers (PCC-FCC) Scale. Methods: Participants, who received care at a U.S. Fetal Care Center (FCC) between 2017 and 2021, completed an online questionnaire providing sociodemographic details, [...] Read more.

Objective: We report findings from a U.S. mixed-methods pilot study of the Person-Centered Care in Fetal Care Centers (PCC-FCC) Scale. Methods: Participants, who received care at a U.S. Fetal Care Center (FCC) between 2017 and 2021, completed an online questionnaire providing sociodemographic details, specifics about the care received, qualitative experiences, and scores from the PCC-FCC Scale. Results: Participants’ (n = 247) PCC-FCC scores and qualitative feedback indicate high perceived person-centered care (PCC), particularly in areas of care coordination, respectful care, and patient education. However, 8% scored below the midpoint, and 38% of comments were negative, especially regarding expectation setting, preparation for post-intervention maternal health, and psychosocial support. Public insurance was associated with higher total PCC-FCC (p = 0.03) and Factor 2 scores (p = 0.02) compared to those with private insurance. The qualitative themes trust, clarity, comprehensive care, compassion, and belonging further elucidate the concept of PCC in FCCs. Conclusion: The PCC-FCC Scale pilot study revealed strong overall PCC in FCCs, yet variability in patient experiences suggests areas needing improvement, including expectation setting, preparation for post-intervention maternal health, and psychosocial support. Future research must prioritize diverse samples and continued mixed methodologies to better understand the role of insurance and identify other potential disparities, ensuring comprehensive representation of the FCC patient population. Full article

(This article belongs to the Special Issue Personalized Approaches to Prenatal Screening and Diagnosis)

15 pages, 282 KiB

Open AccessArticle

Evaluating Long-Term Outcomes in STEMI Patients with New Left Bundle Branch Block: The Impact of Modifiable Risk Factors

by Larisa Anghel, Bogdan-Sorin Tudurachi, Andreea Tudurachi, Laura-Cătălina Benchea, Alexandra Clement, Răzvan-Liviu Zanfirescu, Radu Andy Sascău and Cristian Stătescu

J. Pers. Med. 2024, 14(7), 771; https://doi.org/10.3390/jpm14070771 - 19 Jul 2024

Viewed by 551

Abstract

Background/Objectives: Coronary artery disease, a leading global cause of death, highlights the essential need for early detection and management of modifiable cardiovascular risk factors to prevent further coronary events. Methods: This study, conducted at a major tertiary academic PCI-capable hospital in [...] Read more.

Background/Objectives: Coronary artery disease, a leading global cause of death, highlights the essential need for early detection and management of modifiable cardiovascular risk factors to prevent further coronary events. Methods: This study, conducted at a major tertiary academic PCI-capable hospital in Romania from 1 January 2011 to 31 December 2013, prospectively analyzed 387 myocardial infarction with ST-segment elevation (STEMI) patients to assess the long-term management of modifiable risk factors. This study particularly focused on patients with new-onset left bundle branch block (LBBB) and compared them with a matched control group without LBBB. Results: During median follow-up periods of 9.6 years for LBBB patients and 9.2 years for those without LBBB, it was found that smoking, obesity, and dyslipidemia were prevalent in 73.80%, 71.42%, and 71.42% of the LBBB group, respectively, at baseline. Significant reductions in smoking were observed in both groups, with the LBBB group’s smoking rates decreasing significantly to 61.90% (p = 0.034). Patients with LBBB more frequently achieved low-density lipoprotein cholesterol (LDLc) target levels during the follow-up period (from 71.42% to 59.52%; p = 0.026) compared to the control group (from 66.67% to 71.42%; p = 0.046). Prescription rates for dual antiplatelet therapy (DAPT), angiotensin-converting enzyme inhibitors (ACEi) or angiotensin II receptor blockers (ARBs), beta-blockers, and statins were initially high but then decreased by the follow-up. Statin use was reduced from 97.62% to 69.04% (p = 0.036) in the LBBB group and from 100% to 61.90% (p = 0.028) in the non-LBBB group. This study also highlighted moderate correlations between obesity (r = 0.627, p = 0.040) and subsequent coronary reperfusion in the LBBB group, while dyslipidemia and smoking showed very strong positive correlations across both groups (dyslipidemia: r = 0.903, p = 0.019 for LBBB; r = 0.503, p = 0.048 for non-LBBB; smoking: r = 0.888, p = 0.035 for LBBB; r = 0.517, p = 0.010 for non-LBBB). Conclusions: These findings underscore the crucial need for targeted management of modifiable risk factors, particularly focusing on dyslipidemia and smoking cessation, to improve subsequent coronary reperfusion outcomes post-STEMI, especially in patients with complicating factors like LBBB. Full article

(This article belongs to the Special Issue Cardiology and Vascular Health: Pathophysiology, Therapeutics and Epidemiology)

10 pages, 1598 KiB

Open AccessArticle

Standard Total Ankle Arthroplasty vs. Patient-Specific Instrumentation: A Comparative Study

by Alberto Arceri, Pejman Abdi, Antonio Mazzotti, Simone Ottavio Zielli, Elena Artioli, Laura Langone, Federico Sgubbi and Cesare Faldini

J. Pers. Med. 2024, 14(7), 770; https://doi.org/10.3390/jpm14070770 - 19 Jul 2024

Viewed by 404

Abstract

Purpose: This retrospective study aims to compare surgical outcomes between two cohorts of patients who underwent total ankle arthroplasty (TAA) using either standard technique or patient-specific instrumentation (PSI). Methods: A consecutive series of patients who affected of end-staged ankle osteoarthritis were retrospectively assessed [...] Read more.

Purpose: This retrospective study aims to compare surgical outcomes between two cohorts of patients who underwent total ankle arthroplasty (TAA) using either standard technique or patient-specific instrumentation (PSI). Methods: A consecutive series of patients who affected of end-staged ankle osteoarthritis were retrospectively assessed and divided into two groups based on TAA techniques: a TAA standard technique group and a TAA-using PSI group. The two groups were compared in terms of operative time, additional procedures, complications (neurovascular and wound problems, infection, loosening and osteolysis, revision and explantation rates, and perioperative fracture), clinical scores, and range of motion (ROM). Result: Fifty-one patients underwent standard TAA, while 13 patients underwent TAA with PSI. At 1-year follow-up, there were no significant differences in complication rates between the two groups (p > 0.05). AOFAS scores were similar, with the standard TAA group scoring 83.33 ± 7.55 and the PSI group scoring 82.92 ± 9.7 (p = 0.870). Likewise, the postoperative ROM did not differ significantly, with 15.12 ± 7.6 degrees for the standard TAA group and 16.05 ± 6.7 degrees for the PSI group (p = 0.689). However, the standard TAA group experienced significantly longer operative time (107.1 ± 22.1 min) compared to the PSI group (91.92 ± 22.9 min, p = 0.032). Additionally, the standard TAA group required more adjunctive procedures (29.7%) compared to the PSI group (7.7%, p = 0.04). Residual pain was also more frequently reported in the standard TAA group (62.7%) than in the PSI group (30.7%, p = 0.038). Conclusion: While both techniques resulted in comparable complication rates, clinical scores and ROM, the PSI group reported significantly shorter operative time and less residual pain, thus requiring fewer postoperative procedures. Full article

(This article belongs to the Special Issue Personalized Management in Orthopedics and Traumatology)

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15 pages, 301 KiB

Open AccessArticle

Repeated Sieving for Prediction Model Building with High-Dimensional Data

by Lu Liu and Sin-Ho Jung

J. Pers. Med. 2024, 14(7), 769; https://doi.org/10.3390/jpm14070769 - 19 Jul 2024

Viewed by 370

Abstract

Background: The prediction of patients’ outcomes is a key component in personalized medicine. Oftentimes, a prediction model is developed using a large number of candidate predictors, called high-dimensional data, including genomic data, lab tests, electronic health records, etc. Variable selection, also called [...] Read more.

Background: The prediction of patients’ outcomes is a key component in personalized medicine. Oftentimes, a prediction model is developed using a large number of candidate predictors, called high-dimensional data, including genomic data, lab tests, electronic health records, etc. Variable selection, also called dimension reduction, is a critical step in developing a prediction model using high-dimensional data. Methods: In this paper, we compare the variable selection and prediction performance of popular machine learning (ML) methods with our proposed method. LASSO is a popular ML method that selects variables by imposing an

L_{1}

-norm penalty to the likelihood. By this approach, LASSO selects features based on the size of regression estimates, rather than their statistical significance. As a result, LASSO can miss significant features while it is known to over-select features. Elastic net (EN), another popular ML method, tends to select even more features than LASSO since it uses a combination of

L_{1}

- and

L_{2}

-norm penalties that is less strict than an

L_{1}

-norm penalty. Insignificant features included in a fitted prediction model act like white noises, so that the fitted model will lose prediction accuracy. Furthermore, for the future use of a fitted prediction model, we have to collect the data of all the features included in the model, which will cost a lot and possibly lower the accuracy of the data if the number of features is too many. Therefore, we propose an ML method, called repeated sieving, extending the standard regression methods with stepwise variable selection. By selecting features based on their statistical significance, it resolves the over-selection issue with high-dimensional data. Results: Through extensive numerical studies and real data examples, our results show that the repeated sieving method selects far fewer features than LASSO and EN, but has higher prediction accuracy than the existing ML methods. Conclusions: We conclude that our repeated sieving method performs well in both variable selection and prediction, and it saves the cost of future investigation on the selected factors. Full article

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

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11 pages, 270 KiB

Open AccessArticle

Association of Peripheral Vestibular Disorder with Diabetes: A Population-Based Study

by Tzong-Hann Yang, Chao-Hung Chen, Yen-Fu Cheng, Herng-Ching Lin and Chin-Shyan Chen

J. Pers. Med. 2024, 14(7), 768; https://doi.org/10.3390/jpm14070768 - 19 Jul 2024

Viewed by 561

Abstract

Background: This study aimed to investigate the association of peripheral vestibular disorders with type 1 and type 2 diabetes using a population-based dataset. Methods: The data for this study were obtained from Taiwan’s Longitudinal Health Insurance Database 2010. The sample consisted of 150,916 [...] Read more.

Background: This study aimed to investigate the association of peripheral vestibular disorders with type 1 and type 2 diabetes using a population-based dataset. Methods: The data for this study were obtained from Taiwan’s Longitudinal Health Insurance Database 2010. The sample consisted of 150,916 patients who were newly diagnosed with peripheral vestibular disorders as cases and 452,748 propensity-score-matching controls without peripheral vestibular disorders. We utilized multivariate logistic regression models to quantitatively evaluate the association between peripheral vestibular disorders and diabetes while considering factors such as sex, age, geographic location, monthly income, urbanization level of the patient’s residence, coronary heart disease, hypertension, and hyperlipidemia. Results: The chi-squared test indicates that diabetes was more common in the peripheral vestibular disorder group compared to controls (20.6% vs. 15.1%, p < 0.001). Of all sampled patients, the adjusted odds ratio for diabetes was 1.597 (95% CI = 1.570~1.623) for those with peripheral vestibular disorders when compared to controls, while patients with Ménière’s disease, benign paroxysmal positional vertigo, unilateral vestibulopathy, and other peripheral vestibular disorders had respective adjusted odds ratios of diabetes at 1.566 (95% CI = 1.498~1.638), 1.677 (95% CI = 1.603~1.755), 1.592 (95% CI = 1.504~1.685), and 1.588 (95% CI = l.555~1.621) in comparison to controls. Conclusions: Our research has revealed an association between diabetes and an increased susceptibility to peripheral vestibular disorders. Full article

(This article belongs to the Special Issue Personalized Medicine in Vestibular Disorders)

34 pages, 1219 KiB

Open AccessReview

Bioinformatics in Neonatal/Pediatric Medicine—A Literature Review

by Dimitrios Rallis, Maria Baltogianni, Konstantina Kapetaniou, Chrysoula Kosmeri and Vasileios Giapros

J. Pers. Med. 2024, 14(7), 767; https://doi.org/10.3390/jpm14070767 - 18 Jul 2024

Viewed by 525

Abstract

Bioinformatics is a scientific field that uses computer technology to gather, store, analyze, and share biological data and information. DNA sequences of genes or entire genomes, protein amino acid sequences, nucleic acid, and protein–nucleic acid complex structures are examples of traditional bioinformatics data. [...] Read more.

Bioinformatics is a scientific field that uses computer technology to gather, store, analyze, and share biological data and information. DNA sequences of genes or entire genomes, protein amino acid sequences, nucleic acid, and protein–nucleic acid complex structures are examples of traditional bioinformatics data. Moreover, proteomics, the distribution of proteins in cells, interactomics, the patterns of interactions between proteins and nucleic acids, and metabolomics, the types and patterns of small-molecule transformations by the biochemical pathways in cells, are further data streams. Currently, the objectives of bioinformatics are integrative, focusing on how various data combinations might be utilized to comprehend organisms and diseases. Bioinformatic techniques have become popular as novel instruments for examining the fundamental mechanisms behind neonatal diseases. In the first few weeks of newborn life, these methods can be utilized in conjunction with clinical data to identify the most vulnerable neonates and to gain a better understanding of certain mortalities, including respiratory distress, bronchopulmonary dysplasia, sepsis, or inborn errors of metabolism. In the current study, we performed a literature review to summarize the current application of bioinformatics in neonatal medicine. Our aim was to provide evidence that could supply novel insights into the underlying mechanism of neonatal pathophysiology and could be used as an early diagnostic tool in neonatal care. Full article

(This article belongs to the Special Issue Bioinformatics and Medicine)

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17 pages, 9270 KiB

Open AccessReview

Point of Care Ultrasound (POCUS) in the Management of Heart Failure: A Narrative Review

by Nicki Naddaf, Neda Dianati Maleki, Marc E. Goldschmidt and Andreas P. Kalogeropoulos

J. Pers. Med. 2024, 14(7), 766; https://doi.org/10.3390/jpm14070766 - 18 Jul 2024

Viewed by 1868

Abstract

Assessing for volume overload is a key component of both short and long-term management of heart failure patients. Physical examination findings are neither sensitive nor specific for detecting congestion, and subclinical congestion may not be evident at the time of examination. Point of [...] Read more.

Assessing for volume overload is a key component of both short and long-term management of heart failure patients. Physical examination findings are neither sensitive nor specific for detecting congestion, and subclinical congestion may not be evident at the time of examination. Point of care ultrasound (POCUS) is an efficient and non-invasive way to assess heart failure patients for volume overload. The aim of our narrative review is to summarize how each of the following ultrasound modalities can be used to assess for congestion in the heart failure population: 2D and Doppler echocardiography, lung ultrasound, inferior vena cava ultrasound, internal jugular vein ultrasound, and venous excess grading. While each of these modalities has their limitations, their use in the acute and outpatient space offers the potential to reduce heart failure readmissions and mortality. Full article

(This article belongs to the Section Evidence Based Medicine)

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23 pages, 11038 KiB

Open AccessArticle

A Multi-Omics Analysis of an Exhausted T Cells’ Molecular Signature in Pan-Cancer

by Christos Rigopoulos, Ilias Georgakopoulos-Soares and Apostolos Zaravinos

J. Pers. Med. 2024, 14(7), 765; https://doi.org/10.3390/jpm14070765 - 18 Jul 2024

Viewed by 1108

Abstract

T cells are essential tumor suppressors in cancer immunology, but their dysfunction induced by cancer cells can result in T cell exhaustion. Exhausted T cells (Tex) significantly influence the tumor immune environment, and thus, there is a need for their thorough investigation across [...] Read more.

T cells are essential tumor suppressors in cancer immunology, but their dysfunction induced by cancer cells can result in T cell exhaustion. Exhausted T cells (Tex) significantly influence the tumor immune environment, and thus, there is a need for their thorough investigation across different types of cancer. Here, we address the role of Tex cells in pan-cancer, focusing on the expression, mutations, methylation, immune infiltration, and drug sensitivity of a molecular signature comprising of the genes HAVCR2, CXCL13, LAG3, LAYN, TIGIT, and PDCD1across multiple cancer types, using bioinformatics analysis of TCGA data. Our analysis revealed that the Tex signature genes are differentially expressed across 14 cancer types, being correlated with patient survival outcomes, with distinct survival trends. Pathway analysis indicated that the Tex genes influence key cancer-related pathways, such as apoptosis, EMT, and DNA damage pathways. Immune infiltration analysis highlighted a positive correlation between Tex gene expression and immune cell infiltration in bladder cancer, while mutations in these genes were associated with specific immune cell enrichments in UCEC and SKCM. CNVs in Tex genes were widespread across cancers. We also highlight high LAYN methylation in most tumors and a negative correlation between methylation levels and immune cell infiltration in various cancers. Drug sensitivity analysis identified numerous correlations, with CXCL13 and HAVCR2 expressions influencing sensitivity to several drugs, including Apitolisib, Belinostat, and Docetaxel. Overall, these findings highlight the importance of reviving exhausted T cells to enhance the treatment efficacy to significantly boost anti-tumor immunity and achieve better clinical outcomes. Full article

(This article belongs to the Special Issue Advances of Precision Medicine in Oncology)

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11 pages, 595 KiB

Open AccessArticle

Rapid On-Site Evaluation Performed by an Interventional Pulmonologist: A Single-Center Experience

by Emanuela Barisione, Carlo Genova, Matteo Ferrando, Maurizio Boggio, Michele Paudice and Elena Tagliabue

J. Pers. Med. 2024, 14(7), 764; https://doi.org/10.3390/jpm14070764 - 18 Jul 2024

Viewed by 420

Abstract

Background: Rapid On-Site Evaluation (ROSE) during bronchoscopy allows us to assess sample adequacy for diagnosis and molecular analyses in the context of precision oncology. While extemporaneous smears are typically evaluated by pathologists, their presence during bronchoscopy is not always possible. Our aim is [...] Read more.

Background: Rapid On-Site Evaluation (ROSE) during bronchoscopy allows us to assess sample adequacy for diagnosis and molecular analyses in the context of precision oncology. While extemporaneous smears are typically evaluated by pathologists, their presence during bronchoscopy is not always possible. Our aim is to assess the concordance between ROSE performed by interventional pulmonologists and cytopathologists. Methods: We performed ROSE on 133 samples collected from 108 patients who underwent bronchoscopy for the diagnosis of suspect thoracic findings or for mediastinal lymph node staging (May 2023–October 2023). Randomly selected smears (one for each collection site) were independently evaluated for adequacy by a pulmonologist and a pathologist to assess the concordance of their evaluation. Results: Among 133 selected smears evaluated by a pulmonologist and pathologist, 100 were adequate for both, 10 were inadequate for both and 23 were discordant; hence, global concordance was 82.7%; Cohen’s Kappa was 0.385, defining fair agreement. Concordance was similar irrespective of sample collection site (lymph nodes vs. pulmonary lesions; p = 0.999) and among samples which were considered adequate or inadequate by the pulmonologist (p = 0.608). Conclusions: Trained pulmonologists can evaluate the appropriateness of sampling with good concordance with cytopathologists. Our work supports autonomous ROSE by pulmonologists where pathologists are not immediately available. Full article

(This article belongs to the Special Issue Pathology and Molecular Diagnostics in the Personalized Treatment of Lung Diseases)

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18 pages, 658 KiB

Open AccessSystematic Review

A Systematic Review of the Effects of EEG Neurofeedback on Patients with Schizophrenia

by Dan Cătălin Oprea, Iasmin Mawas, Cătălina Andreea Moroșan, Vlad Teodor Iacob, Eliza Mihaela Cămănaru, Ana Caterina Cristofor, Romeo Petru Dobrin, Bogdan Gireadă, Florin Dumitru Petrariu and Roxana Chiriță

J. Pers. Med. 2024, 14(7), 763; https://doi.org/10.3390/jpm14070763 - 18 Jul 2024

Viewed by 742

Abstract

Schizophrenia is a neuropsychiatric disorder affecting approximately 1 in 300 people worldwide. It is characterized by a range of symptoms, including positive symptoms (delusions, hallucinations, and formal thought disorganization), negative symptoms (anhedonia, alogia, avolition, asociality, and blunted affect), and cognitive impairments (impaired memory, [...] Read more.

Schizophrenia is a neuropsychiatric disorder affecting approximately 1 in 300 people worldwide. It is characterized by a range of symptoms, including positive symptoms (delusions, hallucinations, and formal thought disorganization), negative symptoms (anhedonia, alogia, avolition, asociality, and blunted affect), and cognitive impairments (impaired memory, attention, executive function, and processing speed). Current treatments, such as psychopharmacology and psychotherapy, often do not fully address these symptoms, leading to impaired everyday functionality. In recent years, there has been a growing interest in neuromodulation due to computer and engineering science making extraordinary computational advances. Those put together have reinitiated the spark in the field of neurofeedback (NF) as a means for self-regulation and neuromodulation with the potential to alleviate the daily burden of schizophrenia. We review, in a systematic way, the primary reports of electroencephalogram (EEG)-based NF as a therapeutical tool for schizophrenia. The main body of research consists mostly of case studies and case reports. The results of a few randomized controlled studies, combined with case studies/series, underscore the potential use of NF as an add-on treatment option for improving the lives of suffering individuals, being sustained by the changes in brain function and symptomatology improvement. We aim to provide important evidence of neuromodulation using NF in patients with schizophrenia, summarizing the effects and conclusions found in several clinical trials. Full article

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

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10 pages, 570 KiB

Open AccessArticle

Diagnostic Performance of Point-of-Care High-Sensitivity Troponin in the Exclusion of Non-ST-Elevation Myocardial Infarction in the Emergency Department

by Daniel Zalama-Sánchez, Carlos del Pozo Vegas, Ancor Sanz-García, Pedro Ángel de Santos-Castro, Javier Presencio-Dominguez, Pablo González-Izquierdo, Susana Sánchez-Ramón, Leyre Teresa Pinilla-Arribas, Manuel Baladrón-Segura, Jaldún Cheayeb-Morán, María Fernandez-García, Guillermo Velasco de Cos, Raúl López-Izquierdo and Francisco Martín-Rodríguez

J. Pers. Med. 2024, 14(7), 762; https://doi.org/10.3390/jpm14070762 - 17 Jul 2024

Viewed by 530

Abstract

Background: This study evaluates the diagnostic performance of high-sensitivity troponin using point-of-care testing (POCT) devices compared with main laboratory measurements for ruling out non-ST-elevation myocardial infarction (NSTEMI) in emergency department (ED) patients presenting with non-traumatic chest pain. Methods: This multicenter, observational, prospective, non-interventional [...] Read more.

Background: This study evaluates the diagnostic performance of high-sensitivity troponin using point-of-care testing (POCT) devices compared with main laboratory measurements for ruling out non-ST-elevation myocardial infarction (NSTEMI) in emergency department (ED) patients presenting with non-traumatic chest pain. Methods: This multicenter, observational, prospective, non-interventional study was conducted in two Spanish hospitals from 1 June to 31 December 2023 and included adult patients presenting with non-traumatic chest pain admitted to the ED. High-sensitivity troponin levels were measured using both the Siemens Atellica^® VTLi POCT device and main laboratory testing, with data collected on analytical results and measurement times. Results: Of the 201 patients who met the inclusion criteria, a significant correlation was observed between the POCT and laboratory assays. The area under the curve (AUC) of the ROC curve was consistently greater than 0.9, indicating a high diagnostic accuracy for ruling out NSTEMI. In addition, measurement times were significantly reduced using POCT compared to the core laboratory. Conclusion: These results suggest that high-sensitivity troponin POCT devices offer comparable diagnostic performance to traditional laboratory methods for the diagnosis of NSTEMI in the emergency department, potentially speeding up clinical decisions and optimizing resource utilization. Full article

(This article belongs to the Special Issue Precision Emergency Medicine)

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15 pages, 1081 KiB

Open AccessPerspective

New Perspectives on Risk Assessment and Anticoagulation in Elective Spine Surgery Patients: The Impact of Ultra-Minimally Invasive Endoscopic Surgery Techniques on Patients with Cardiac Disease

by Alexandre Siciliano, Kai-Uwe Lewandrowski, Sergio Luis Schmidt, Rossano Kepler Alvim Fiorelli, Paulo Sérgio Teixeira de Carvalho, Abduljabbar Alhammoud, Stenio Karlos Alvim Fiorelli, Marcos Arêas Marques and Morgan P. Lorio

J. Pers. Med. 2024, 14(7), 761; https://doi.org/10.3390/jpm14070761 - 17 Jul 2024

Viewed by 436

Abstract

The advent of ultra-minimally invasive endoscopic spine surgery, characterized by significantly reduced surgery times, minimal blood loss, and minimal tissue trauma, has precipitated a paradigm shift in the preoperative management of patients with cardiac disease undergoing elective spine procedures. This perspective article explores [...] Read more.

The advent of ultra-minimally invasive endoscopic spine surgery, characterized by significantly reduced surgery times, minimal blood loss, and minimal tissue trauma, has precipitated a paradigm shift in the preoperative management of patients with cardiac disease undergoing elective spine procedures. This perspective article explores how these advancements have influenced the requirements for preoperative cardiac workups and the protocols surrounding the cessation of anticoagulation and antiplatelet therapies. Traditionally, extensive cardiac evaluations and the need to stop anticoagulation and antiplatelet agents have posed challenges, increasing the risk of cardiac events and delaying surgical interventions. However, the reduced invasiveness of endoscopic spine surgery presents a safer profile for patients with cardiac comorbidities, potentially minimizing the necessity for rigorous cardiac clearance and allowing for more flexible anticoagulation management. This perspective article synthesizes current research and clinical practices to provide a comprehensive overview of these evolving protocols. It also discusses the implications of these changes for patient safety, surgical outcomes, and overall healthcare efficiency. Finally, the article suggests directions for future research, emphasizing the need for updated guidelines that reflect the reduced perioperative risk associated with these innovative surgical techniques. This discussion is pivotal for primary care physicians, surgeons, cardiologists, and the broader medical community in optimizing care for this high-risk patient population. Full article

(This article belongs to the Special Issue Personalized Approaches to Spine Surgery: Innovations and Future Directions)

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Graphical abstract

15 pages, 1943 KiB

Open AccessArticle

Fasting Blood Glucose-Based Novel Predictors in Detecting Metastases and Predicting Prognosis for Patients with PNENs

by Li Yu, Mengfei Fu, Liu Yang and Hui Sun

J. Pers. Med. 2024, 14(7), 760; https://doi.org/10.3390/jpm14070760 - 17 Jul 2024

Viewed by 477

Abstract

Objective: To explore three novel fasting blood glucose (FBG)-based novel indicators, including the FBG-to-albumin ratio (FAR), FBG-to-lymphocytes ratio (FLR), and FBG-to-hemoglobin ratio (FHR), in predicting prognosis and detecting metastasis for patients with pancreatic neuroendocrine neoplasms (pNENs) after resection. Materials and Methods: A total [...] Read more.

Objective: To explore three novel fasting blood glucose (FBG)-based novel indicators, including the FBG-to-albumin ratio (FAR), FBG-to-lymphocytes ratio (FLR), and FBG-to-hemoglobin ratio (FHR), in predicting prognosis and detecting metastasis for patients with pancreatic neuroendocrine neoplasms (pNENs) after resection. Materials and Methods: A total of 178 pNENs patients who underwent surgical resection were included in this study. Receiver operating characteristic (ROC) curves were used to evaluate the diagnosis values of FAR, FLR, and FHR, and the cutoff values were obtained for further analyses. Univariate and multivariate analyses were conducted to determine the independent predictors. The Kaplan–Meier method was used to evaluate the progression-free survival (PFS) and overall survival (OS) of the pNENs patients. Results: The optimal cutoff values of FAR, FLR, and FHR were 0.17, 2.85, and 0.028, respectively. As for PFS, the area under the curve (AUC) was 0.693 for FAR, 0.690 for FLR, and 0.661 for FHR, respectively. The AUC was 0.770, 0.692, and 0.715 accordingly for OS. The groups with lower FAR, FLR, and FHR were significantly associated with prolonged PFS and OS (p < 0.05). In patients with metastasis, the lower FAR group was correlated with significantly longer PFS and OS (p = 0.022 and 0.002, respectively). The FLR was an independent predictor of PFS in pNENs patients, and the FAR was a predictor of OS. FAR was an independent indicator of PFS in patients with metastasis. Conclusions: Preoperative FAR, FLR, and FHR are effective in predicting the prognosis of pNEN patients and detecting the synchronous metastases. Full article

(This article belongs to the Special Issue Biomarkers and Personalized Therapy in Solid Tumors)

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12 pages, 894 KiB

Open AccessReview

Physician-Modified Endografts for Repair of Complex Abdominal Aortic Aneurysms: Clinical Perspectives and Medico-Legal Profiles

by Giovanna Ricci, Filippo Gibelli, Ascanio Sirignano, Maurizio Taurino and Pasqualino Sirignano

J. Pers. Med. 2024, 14(7), 759; https://doi.org/10.3390/jpm14070759 - 17 Jul 2024

Viewed by 468

Abstract

Standard endovascular aortic repair (EVAR) has become the standard of care for treating infrarenal abdominal aortic aneurysms (AAAs) in patients with favorable anatomies, while patients with challenging AAA anatomies, and those with suprarenal or thoraco-abdominal aneurysms, still need alternative, more complex, solutions, including [...] Read more.

Standard endovascular aortic repair (EVAR) has become the standard of care for treating infrarenal abdominal aortic aneurysms (AAAs) in patients with favorable anatomies, while patients with challenging AAA anatomies, and those with suprarenal or thoraco-abdominal aneurysms, still need alternative, more complex, solutions, including custom-made branched or fenestrated grafts, which are constrained by production delay and costs. To address urgent needs and complex cases, physicians have proposed modifying standard endografts by manually creating graft fenestrations. This allows for effective aneurysm exclusion and satisfactory patency of visceral vessels. Although physician-modified grafts (PMEGs) have demonstrated high technical success, standardized creation processes and long-term safety data are still lacking, necessitating further study to validate their clinical and legal standing. The aim of this article is to illustrate the state of the art with regard to this surgical technique, summarizing its origin, evolution, and the main clinical evidence supporting its effectiveness. The paper also aims to discuss the main medico-legal issues related to the use of PMEGs, with particular reference to the issue of safety related to the standardization of the surgical technique, medical liability profiles, and informed consent. Full article

(This article belongs to the Special Issue Precision Medicine in Vascular Disease)

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15 pages, 2466 KiB

Open AccessArticle

Results of Tendon Transfers in Radial Nerve Palsies: A New Evaluation Protocol

by Micaela Reina, Simonetta Odella, Mauro Magnani, Francesco Locatelli, Alice Clemente, Martina Macrì and Pierluigi Tos

J. Pers. Med. 2024, 14(7), 758; https://doi.org/10.3390/jpm14070758 - 16 Jul 2024

Viewed by 470

Abstract

Radial nerve palsies present a challenging clinical scenario, often leading to substantial functional impairment. This study focuses on evaluating the outcomes of tendon transfer surgeries in patients with post-traumatic radial nerve injuries. The radial nerve, vital for upper limb movements, faces various etiologies, [...] Read more.

Radial nerve palsies present a challenging clinical scenario, often leading to substantial functional impairment. This study focuses on evaluating the outcomes of tendon transfer surgeries in patients with post-traumatic radial nerve injuries. The radial nerve, vital for upper limb movements, faces various etiologies, such as trauma, compression, or idiopathy. Patients with radial nerve palsy encounter difficulties in daily activities, emphasizing the need for effective management strategies. The research introduces a novel evaluation protocol, aiming to comprehensively assess tendon transfer outcomes. This protocol incorporates functional movements of wrist and finger joints, encompassing both objective and subjective parameters. The retrospective study includes eleven patients treated between 2010 and 2022, with a minimum follow-up of one year post-surgery. Tendon transfers demonstrated positive results. The evaluation protocol covers a wide range of parameters, including wrist and finger mobility, thumb function, grip strength, and patient satisfaction. The results indicate successful restoration of motor function, with an average grip strength of 70% compared to the healthy arm. The proposed evaluation protocol facilitates standardized and reproducible assessment, minimizing subjective errors in clinical evaluations. Despite the study’s limitations, such as a relatively small sample size, the findings underscore the effectiveness of tendon transfers in treating radial nerve palsies. The introduced evaluation scheme provides a comprehensive and reproducible approach to assess outcomes, contributing to the global standardization of tendon transfer assessments in radial nerve injuries. Full article

(This article belongs to the Special Issue Surgical Innovation and Advancement in Limb Extremities)

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10 pages, 239 KiB

Open AccessArticle

Progression of Coronary Artery Calcification According to Changes in Risk Factors in Asymptomatic Individuals

by Jin-Young Yoo, Se-Ri Kang and Eun-Ju Chun

J. Pers. Med. 2024, 14(7), 757; https://doi.org/10.3390/jpm14070757 - 16 Jul 2024

Viewed by 400

Abstract

This retrospective study aimed to assess coronary artery calcium (CAC) progression in serial computed tomography measurements according to risk factor changes. In 448 asymptomatic adults who underwent CAC measurements with more than one-year intervals, CAC progression was assessed according to age, sex, variable [...] Read more.

This retrospective study aimed to assess coronary artery calcium (CAC) progression in serial computed tomography measurements according to risk factor changes. In 448 asymptomatic adults who underwent CAC measurements with more than one-year intervals, CAC progression was assessed according to age, sex, variable traditional risk factors (diabetes mellitus, hypertension, hyperlipidemia, and smoking), and initial CAC score (0, 0.1–100, and >100). Univariate and multivariate logistic regression analyses were assessed for independent predictors of rapid CAC progression (ΔCAC/year > 20). During the 3.5-year follow-up, coronary artery calcifications occurred in 43 (12.8%) of 336 individuals with an initial CAC score of zero. Of 112 individuals with initial CAC presence, 60 (53.6%) had ΔCAC/year > 20. Age, male sex, body mass index, and all risk factors were significantly associated with ΔCAC/year > 20, but recently diagnosed hypertension (odds ratio [OR], 11.3) and initial CAC score (OR, 1.05) were significant independent predictors in multivariate regression analyses. CAC progression was affected by demographic and traditional risk factors; but, adjusting for these factors, recently diagnosed hypertension and initial CAC score were the most influential factors for rapid CAC progression. These findings suggest that individuals with higher initial CAC scores may benefit from more frequent follow-up scans and checks regarding risk factor changes. Full article

(This article belongs to the Section Epidemiology)

14 pages, 2474 KiB

Open AccessReview

Colchicine—The Divine Medicine against COVID-19

by Vanyo Mitev

J. Pers. Med. 2024, 14(7), 756; https://doi.org/10.3390/jpm14070756 - 16 Jul 2024

Viewed by 676

Abstract

Colchicine has a number of effects that suggest it may be useful in the treatment of COVID-19. Myeloid cells are a major source of dysregulated inflammation in COVID-19. The hyperactivation of the NLRP3 inflammasome and the subsequent cytokine storm take place precisely inside [...] Read more.

Colchicine has a number of effects that suggest it may be useful in the treatment of COVID-19. Myeloid cells are a major source of dysregulated inflammation in COVID-19. The hyperactivation of the NLRP3 inflammasome and the subsequent cytokine storm take place precisely inside them and can lead to multiorgan damage and death. NLRP3 inflammasome inhibition has been assessed at micromolar colchicine concentrations which cannot be achieved in serum. However, colchicine has remarkable ability to accumulate intensively in leukocytes, where the cytokine storm is generated. Over 50 observational studies and randomized clinical trials, small randomized non-controlled trials, and retrospective cohort studies were initiated to test its healing effect in vivo, leading to conflicting, rather disappointing results. The WHO gives a “Strong recommendation against” the use of colchicine for COVID-19 treatment. This is because low doses of colchicine are always used, where the concentrations required to inhibit the NLRP3 inflammasome in leukocytes cannot be reached. Considering this, from March 2020, we started the administration of higher doses of colchicine. Our assumption was that a safe increase in colchicine doses to reach micromolar concentrations in leukocytes will result in NLRP3 inflammasome/cytokine storm inhibition. We demonstrated that in 785 inpatients treated with increasing doses of colchicine, mortality fell between two and seven times. Our data, including a large number of COVID-19 outpatients, showed that nearly 100% of the patients treated with this therapeutic regimen escaped hospitalization. In addition, post-COVID-19 symptoms in those treated with colchicine were significantly rarer. As a large number of viruses can overactivate the NLRP3 inflammasome (like seasonal influenza), we are convinced that higher colchicine doses would be useful in these cases as well. Full article

(This article belongs to the Section Evidence Based Medicine)

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13 pages, 2036 KiB

Open AccessArticle

Volumetric Biomarkers of Visual Outcome after Surgical Repair in Lamellar Macular Holes

by Myrta Lippera, George Moussa, Tsveta Ivanova, Mariantonia Ferrara, Karina Spiess, Naseer Ally, Kirti Jasani, Felipe Dhawahir-Scala, Niall Patton and Assad Jalil

J. Pers. Med. 2024, 14(7), 755; https://doi.org/10.3390/jpm14070755 - 16 Jul 2024

Cited by 1 | Viewed by 444

Abstract

Background: We investigate novel OCT parameters, based on the volumetric analysis of lamellar macular holes (LMHs), as prognostic indicators for visual outcomes after surgery. Methods: LMHs were divided into degenerative LMHs (D-LMHs) and ERM-foveoschisis (ERM-FS). Pre-operative clinical, OCT linear and volumetric parameters were [...] Read more.

Background: We investigate novel OCT parameters, based on the volumetric analysis of lamellar macular holes (LMHs), as prognostic indicators for visual outcomes after surgery. Methods: LMHs were divided into degenerative LMHs (D-LMHs) and ERM-foveoschisis (ERM-FS). Pre-operative clinical, OCT linear and volumetric parameters were collected. Volumes were obtained using the OCT automatic segmentation, such as central retinal volume (CRV) and outer nuclear layer (ONL) volume, or using a novel method to calculate volumes of specific LMH entities like epiretinal proliferation (ERP), foveal cavity (FC) in D-LMH and schitic volume (SV) in ERM-FS. Univariate and multivariate linear regression analysis evaluated the factors predictive for post-operative best-corrected visual acuity (BCVA). Results: We included 31 eyes of 31 patients (14 D-LMH,17 ERM-FS). A pre-operative BCVA ≤ 0.48 logMAR was a predictor for achieving ≤0.30 logMAR at final follow-up. A lower pre-operative BCVA (p = 0.008) and the presence of ERP (p = 0.002) were associated with worse visual outcomes post-surgery. Moreover, novel pre-operative OCT parameters significantly associated with worse post-operative BCVA, such as increased FC volume (p = 0.032) and lower CRV (p = 0.034) in the D-LMH subtype and lower CRV (p < 0.001) and ERP volume (p < 0.001), higher SV (p < 0.001) and foveal ONL volume (p < 0.001) in the ERM-FS subtype. Conclusions: Novel volumetric OCT parameters can be prognostic indicators of visual outcome following surgery in LMHs. Full article

(This article belongs to the Special Issue New Advances in Diagnostic and Surgical Treatment of Ocular Diseases)

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11 pages, 3385 KiB

Open AccessCase Report

Complete Favorable Response after Second-Line Immunotherapy in Stage IV Non-Small Lung Cancer with Visceral Metastases and Operated Brain Metastasis

by Roxana-Andreea Rahnea-Nita, Laura-Florentina Rebegea, Radu-Valeriu Toma, Alexandru Nechifor, Georgiana Bianca Constantin and Gabriela Rahnea-Nita

J. Pers. Med. 2024, 14(7), 754; https://doi.org/10.3390/jpm14070754 - 16 Jul 2024

Viewed by 619

Abstract

Introduction: Patients with non-small cell lung cancer (NSCLC) and brain metastatic disease have an unfavorable prognosis. The goal of the treatment in stage IV NSCLC is to increase the survival rate and to improve the quality of life. Case report: We present the [...] Read more.

Introduction: Patients with non-small cell lung cancer (NSCLC) and brain metastatic disease have an unfavorable prognosis. The goal of the treatment in stage IV NSCLC is to increase the survival rate and to improve the quality of life. Case report: We present the case of a young male patient (47 years old at the time of diagnosis in 2021) with NSCLC stage IV with the onset of the disease through neurological symptoms determined by brain metastasis. The immunohistochemical result raised problems of differential diagnosis. The complete favorable response was obtained 20 months after the initiation of second-line immunotherapy, maintaining this response 6 months later. Discussion: The therapeutic approach for the second-line treatment of patients with metastatic non-small cell lung cancer (NSCLC) without mutations has been revolutionized by the approval of immune-checkpoint inhibitors (ICIs). The combination of radiotherapy and immunotherapy can increase the abscopal phenomenon by the stimulation of an immune response against tumors at distant sites, outside the radiation field, as recent studies suggest. Conclusions: Second-line immunotherapy is beneficial to the survival of patients with NSCLC with disease progression beyond initial chemotherapy. The combination of radiotherapy and immunotherapy has the potential to play an important role in metastatic NSCLC. Full article

(This article belongs to the Section Personalized Therapy and Drug Delivery)

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14 pages, 294 KiB

Open AccessArticle

Inflammatory Response Genes’ Polymorphism Associated with Risk of Rheumatic Heart Disease

by Anna Sinitskaya, Maria Khutornaya, Oksana Hryachkova, Maxim Asanov, Alyona Poddubnyak, Anastasia Ponasenko and Maxim Sinitsky

J. Pers. Med. 2024, 14(7), 753; https://doi.org/10.3390/jpm14070753 - 15 Jul 2024

Viewed by 785

Abstract

Rheumatic heart disease (RHD) caused by group A streptococcus infection is one of the most important reasons of cardiovascular morbidity and mortality in low- and middle-income countries. Aberrant host immune response modulated by polymorphisms in inflammatory response genes plays an important role in [...] Read more.

Rheumatic heart disease (RHD) caused by group A streptococcus infection is one of the most important reasons of cardiovascular morbidity and mortality in low- and middle-income countries. Aberrant host immune response modulated by polymorphisms in inflammatory response genes plays an important role in RHD pathogenesis. This study aimed to determine risk-associated polymorphic variants in inflammatory response genes in Caucasian RHD patients. A total of 251 Caucasian RHD patients and 300 healthy donors were recruited for this study, and 27 polymorphic sites in 12 genes (TLR1, TLR2, TLR4, TLR6, IL1B, IL6R, IL6, IL10, IL12RB1, IL12B, TNF and CRP) were analyzed using allele-specific PCR. It was demonstrated that the polymorphic variants rs1800871 and rs1800872 in the IL10 gene, rs 1130864, rs3093077 and rs1205 in the CRP gene, rs375947 in the IL12RB1 gene, rs 5743551 and rs5743611 in the TLR1 gene, and rs3775073 in the TLR6 gene can modify RHD risk in a gender- and age-dependent manner. The obtained results can be used to determine the personalized risk of RHD in healthy donors during medical examination or screening, as well as to develop appropriate early prevention strategies targeting RHD in the risk groups. Full article

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

19 pages, 1839 KiB

Open AccessSystematic Review

EGFR-Tyrosine Kinase Inhibitor Retreatment in Non-Small-Cell Lung Cancer Patients Previously Exposed to EGFR-TKI: A Systematic Review and Meta-Analysis

by Isabella Michelon, Maysa Vilbert, Caio Ernesto do Rego Castro, Carlos Stecca, Maria Inez Dacoregio, Manglio Rizzo, Vladmir Cláudio Cordeiro de Lima and Ludimila Cavalcante

J. Pers. Med. 2024, 14(7), 752; https://doi.org/10.3390/jpm14070752 - 15 Jul 2024

Viewed by 928

Abstract

We performed a systematic review and meta-analysis to assess the efficacy of EGFR-tyrosine kinase inhibitors (TKI) retreatment in advanced/metastatic non-small-cell lung cancer (NSCLC) patients. We systematically searched PubMed, Embase, Cochrane databases, ASCO, and ESMO websites for studies evaluating EGFR-TKI retreatment in advanced/metastatic NSCLC [...] Read more.

We performed a systematic review and meta-analysis to assess the efficacy of EGFR-tyrosine kinase inhibitors (TKI) retreatment in advanced/metastatic non-small-cell lung cancer (NSCLC) patients. We systematically searched PubMed, Embase, Cochrane databases, ASCO, and ESMO websites for studies evaluating EGFR-TKI retreatment in advanced/metastatic NSCLC patients. All analyses were performed using R software (v.4.2.2). We included 19 studies (9 CTs and 10 retrospective cohorts) with a total of 886 patients. In a pooled analysis of all patients during retreatment with TKI, median OS was 11.7 months (95% confidence interval [CI] 10.2–13.4 months) and PFS was 3.2 months (95% CI 2.5–3.9 months). ORR was 15% (95% CI 10–21%) and DCR was 61% (95% CI 53–67%). The subanalysis by generation of TKI in the rechallenge period revealed a slightly better ORR for patients on 3rd generation TKI (p = 0.05). Some limitations include the high heterogeneity of some of the analyses and inability to perform certain subanalyses. Our results unequivocally support the benefit of EGFR-TKI rechallenge in EGFR-mutated NSCLC patients progressing on TKI treatment after a TKI-free interval. These findings may be especially valuable in areas where access to novel therapeutic drugs and clinical trials is limited. Full article

(This article belongs to the Section Molecular Targeted Therapy)

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12 pages, 2428 KiB

Open AccessArticle

Understanding the Barriers to Prostate Cancer Population-Based Early Detection Programs: The PRAISE-U BEST Survey

by Katharina Beyer, Renée C. A. Leenen, Lionne D. F. Venderbos, Jozien Helleman, Sebastiaan Remmers, Vera Vasilyeva, Juan Gomez Rivas, Erik Briers, Thomas Frese, Josep Vilaseca, Shlomo Vinker, Renata Chloupkova, Ondrej Majek, Lieven Annemans, Pieter Vynckier, Partha Basu, Arunah Chandran, Roderick van den Bergh, Sarah Collen, Hendrik van Poppel, Monique J. Roobol and on behalf of the PRAISE-U Consortium Show full author list Hide full author list

J. Pers. Med. 2024, 14(7), 751; https://doi.org/10.3390/jpm14070751 - 15 Jul 2024

Viewed by 763

Abstract

In 2022, the European Commission updated its recommendation on cancer screening, inviting the Member States (MSs) to explore the feasibility of stepwise implementation of population-based screening for prostate cancer (PCa). In line with this recommendation, the PRAISE-U (Prostate Cancer Awareness and Initiative for [...] Read more.

In 2022, the European Commission updated its recommendation on cancer screening, inviting the Member States (MSs) to explore the feasibility of stepwise implementation of population-based screening for prostate cancer (PCa). In line with this recommendation, the PRAISE-U (Prostate Cancer Awareness and Initiative for Screening in the European Union (EU)) project was initiated. As part of the PRAISE-U, we aim to understand the current practice towards early detection in the EU MSs, the barriers to implementing or planning population-based screening programmes, and potential solutions to overcome these barriers. Methods: We adapted the Barriers to Effective Screening Tool (BEST) survey to the PCa context. However, it has not been validated in this context. We translated it into all spoken languages in the EU27 and disseminated it to different stakeholders across the EU using a snowballing approach. Results: We received 410 responses from 55 countries, of which 301 (73%) were from the 27 EU MSs. The most represented stakeholder group was urologists (218 (54%)), followed by general practitioners (GPs) (83 (21%)), patient representatives (35 (9%)), policy stakeholders (27 (7%)), researchers (23 (6%)), oncologists, pathologists, radiologists, nurses, and others (16 (4%)) and one industry representative. Among all respondents, 286 (69%) reported the absence of a population-based screening programme, mainly attributed to resource limitations and a lack of political and medical society support. Out of these 286 respondents, 196 (69%) indicated that opportunistic screening is being applied in their country, and 199 (70%) expressed their support for population-based screening programmes (which was highest amongst patient representatives and urologists and lowest amongst GPs and policy stakeholders). The highest scored barriers were lack of political support, insufficient operational resources, and inadequate participation. Suggested solutions to overcome these included awareness campaigns, consensus meetings, political lobbying and European guidelines (to overcome political support barriers), compatible IT systems (to overcome operational barriers), and easy access (to overcome participation barriers). Conclusions: Participants have noted the presence of opportunistic screening, and particularly urologists and patient representatives expressed their support for the establishment of a population-based PCa screening programme. Nevertheless, successful implementation of population-based screening programmes is complex; it requires political and medical society support, operational resources and capacity, awareness campaigns, as well as the development of protocols, guidelines, and legal frameworks. Full article

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12 pages, 539 KiB

Open AccessReview

Dynamics of RAS Mutations in Liquid Biopsies in Metastatic Colorectal Cancer Patients—Case Series and Literature Review

by Ionut Popescu, Vlad M. Croitoru, Irina M. Croitoru-Cazacu, Ana-Maria Dudau, Vlad Herlea, Simona Olimpia Dima and Adina Emilia Croitoru

J. Pers. Med. 2024, 14(7), 750; https://doi.org/10.3390/jpm14070750 - 15 Jul 2024

Viewed by 665

Abstract

Liquid biopsies can accurately identify molecular alterations in patients with colorectal cancer with high concordance with tissue analysis and shorter turnaround times. Circulating tumor (ct) DNA analysis can be used for diagnosing and monitoring tumor evolution in patients with metastatic colorectal cancer who [...] Read more.

Liquid biopsies can accurately identify molecular alterations in patients with colorectal cancer with high concordance with tissue analysis and shorter turnaround times. Circulating tumor (ct) DNA analysis can be used for diagnosing and monitoring tumor evolution in patients with metastatic colorectal cancer who are treated with EGFR inhibitors. In this article, we reported three clinical cases to illustrate the relevance of RAS mutations identified in ctDNA samples of patients with wild-type metastatic colorectal cancer who received an EGFR inhibitor plus chemotherapy as first-line treatment. The identification of RAS mutations in these patients is one of the most frequently identified mechanisms of acquired resistance. However, detecting a KRAS mutation via liquid biopsy can be caused by inter-tumor heterogeneity or it can be a false positive due to clonal hematopoiesis. More research is needed to determine whether ctDNA monitoring may help guide therapy options in metastatic colorectal cancer patients. We performed a literature review to assess the technologies that are used for analysis of RAS mutations on ctDNA, the degree of agreement between tissue and plasma and the importance of tissue/plasma discordant cases. Full article

(This article belongs to the Special Issue Precision Medicine for Digestive Diseases)

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7 pages, 213 KiB

Open AccessBrief Report

Inter- and Intra-Observer Variability of the AMADEUS Tool for Osteochondral Lesions of the Talus

by Konstantinos Tsikopoulos, Jenn Wong, Moustafa Mahmoud, Vasileios Lampridis, Perry Liu, Radoslaw Rippel and Alisdair Felstead

J. Pers. Med. 2024, 14(7), 749; https://doi.org/10.3390/jpm14070749 - 15 Jul 2024

Viewed by 523

Abstract

Background: Managing osteochondral cartilage defects (OCDs) of the talus is a common daily challenge in orthopaedics as they predispose patients to further cartilage damage and progression to osteoarthritis. Therefore, the implementation of a reliable tool to quantify the amount of cartilage damage that [...] Read more.

Background: Managing osteochondral cartilage defects (OCDs) of the talus is a common daily challenge in orthopaedics as they predispose patients to further cartilage damage and progression to osteoarthritis. Therefore, the implementation of a reliable tool to quantify the amount of cartilage damage that is present is of the essence. Methods: We retrospectively identified 15 adult patients diagnosed with uncontained OCDs of the talus measuring <150 mm², which were treated arthroscopically with bone marrow stimulation. Five independent assessors evaluated the pre-operative MRI scans with the AMADEUS scoring system (i.e., MR-based pre-operative assessment system) and the intra-/inter-observer variability was then calculated by means of the intraclass correlation coefficients (ICC) and Kappa (κ) statistics, respectively. In addition, the correlation between the mean AMADEUS scores and pre-operative self-reported outcomes as measured by the Manchester–Oxford foot questionnaire (MOxFQ) was assessed. Results: The mean ICC and the κ statistic were 0.82 (95% CI [0.71, 0.94]) and 0.42 (95% CI [0.25, 0.59]). The Pearson correlation coefficient was found to be r = −0.618 (p = 0.014). Conclusions: The AMADEUS tool, which was originally designed to quantify knee osteochondral defect severity prior to cartilage repair surgery, demonstrated good reliability and moderate inter-observer variability for small OCDs of the talar shoulder. Given the strong negative correlation between the AMADEUS tool and pre-operative clinical scores, this tool could be implemented in clinical practise to reliably quantify the extent of the osteochondral defects of the talus. Full article

(This article belongs to the Special Issue Novel Challenges and Advances in Orthopaedic and Trauma Surgery)

13 pages, 272 KiB

Open AccessArticle

Rates of Vaccination against COVID-19 in Psychiatric Outpatients

by Mina Cvjetkovic Bosnjak, Dusan Kuljancic, Ana-Marija Vejnovic, Darko Hinic, Vladimir Knezevic, Dragana Ratkovic, Vanja Bosic, Vesna Vasic, Branislav Sakic, Darja Segan, Predrag Savic, Minja Abazovic, Masa Comic, Djendji Siladji, Dusica Simic-Panic and Olga Ivetic Poledica

J. Pers. Med. 2024, 14(7), 748; https://doi.org/10.3390/jpm14070748 - 14 Jul 2024

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Abstract

Background: The aim of this study was to compare the rates of vaccination against COVID-19 infection in psychiatric outpatients and the general population, as well as rates of infected patients. In addition, the level and type of anxiety due to the pandemic were [...] Read more.

Background: The aim of this study was to compare the rates of vaccination against COVID-19 infection in psychiatric outpatients and the general population, as well as rates of infected patients. In addition, the level and type of anxiety due to the pandemic were observed in patients with psychotic, anxiety, and depressive disorders. Materials and Methods: In the present study, 171 patients with pre-existing mental disorders completed the questionnaire about the doses and types of vaccination against COVID-19. During 2021–2023, patients with different mental disorders, aged from 18 to 80, were included. All patients filled in a self-reported questionnaire including general information (age, sex, marriage, education, working status, comorbid conditions) as well as questions about mental health, receiving vaccination, and the course of COVID-19 infection if it was present. All patients gave informed consent for the interview. Results: Patients with pre-existing mental disorders were more likely to be vaccinated against COVID-19 compared with the general population. The Sinopharm vaccine was most frequently applied. In the observed patients, 46.8% were infected, but just 7% had a medium or serious form of infection and were not vaccinated. Conclusions: In our study, the percentage of vaccinated psychiatric patients was greater than that in the general population, except in psychotic patients, who were mostly limited by fear. Such results can be explained by the high percentage of somatic comorbidities in this population and perhaps insufficient information about the positive effects of vaccination. Full article

(This article belongs to the Special Issue Personalized Medicine for COVID-19)

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J. Pers. Med., Volume 14, Issue 7 (July 2024) – 114 articles

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