Journal of Personalized Medicine

23 pages, 9581 KiB

Open AccessArticle

Assessment of the Impact of Bone Quality and Abutment Configuration on the Fatigue Performance of Dental Implant Systems Using Finite Element Analysis (FEA)

by Meryem Erdoğdu, Mehmet Gökberkkaan Demirel, Reza Mohammadi and Neslihan Güntekin

J. Pers. Med. 2024, 14(10), 1040; https://doi.org/10.3390/jpm14101040 - 28 Sep 2024

Abstract

Background and Objectives: The aim of this study was to evaluate the influence of abutment angulation, types, and bone quality on fatigue performance in dental implant systems. Materials and Methods: Three-dimensional models of maxillary 3-unit fixed implant-supported prostheses were analyzed. Abutments with different [...] Read more.

Background and Objectives: The aim of this study was to evaluate the influence of abutment angulation, types, and bone quality on fatigue performance in dental implant systems. Materials and Methods: Three-dimensional models of maxillary 3-unit fixed implant-supported prostheses were analyzed. Abutments with different angles and types were used. Healthy bone (Hb) and resorbed bone (Rb) were used. Conducted on implants, a force of 150 N was applied obliquely, directed from the palatal to the buccal aspect, at a specific angle of 30 degrees. The stress distribution and fatigue performance were then evaluated considering the types of bone used and the angles of the three different abutments. The simulation aspect of the research was carried out utilizing Abaqus 2020 software. Results: In all models, fatigue strengths in healthy bone were higher than in resorbed bone. Maximum stress levels were seen in models with angled implants. In almost all models with resorbed bone, fatigue performances were slightly lower. Conclusions: Increasing the abutment angle has been shown to increase stress levels and decrease fatigue performance in the adjacent bone and along the implant–abutment interface. In general, implants applied to healthy bone were found to have a higher success rate. It has also been suggested that multiunit abutments have beneficial effects on stress distribution and fatigue performance compared to resin cemented abutments. The type or angle of abutment and the quality of the bone can lead to biomechanical changes that affect the force distribution within the bone structure surrounding the implant. Clinicians can influence the biomechanical environment of the implant site by varying the abutment angle and type to suit the condition of bone health, potentially affecting the long-term success of implant treatment. Full article

(This article belongs to the Special Issue Digital Solutions in Dentistry as the Key to Personalized Treatment)

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12 pages, 939 KiB

Open AccessSystematic Review

Impact of Tocopherol Supplementation on Clinical Parameters of Periodontal Disease: A Systematic Review and Meta-Analysis

by Bogdan Andrei Bumbu, Magda Mihaela Luca and Roxana Buzatu

J. Pers. Med. 2024, 14(10), 1039; https://doi.org/10.3390/jpm14101039 - 28 Sep 2024

Abstract

Background and Objectives: The significance of periodontal disease as a public health issue prompts the exploration of effective treatments, including the potential use of tocopherol (Vitamin E) due to its anti-inflammatory and antioxidant properties. Materials and Methods: The PICO statement (Population, [...] Read more.

Background and Objectives: The significance of periodontal disease as a public health issue prompts the exploration of effective treatments, including the potential use of tocopherol (Vitamin E) due to its anti-inflammatory and antioxidant properties. Materials and Methods: The PICO statement (Population, Intervention, Comparator, Outcome) was as follows: In patients with periodontal disease, does tocopherol (Vitamin E) supplementation compared to no supplementation or insufficient Vitamin E intake improve clinical outcomes such as gingival inflammation, pocket depth, and clinical attachment levels? This study searched through PubMed, Scopus, and Web of Science up to June 2024 focused on studies involving human subjects with various forms of periodontal disease, analyzing the impact of tocopherol through dietary or supplementary intake. Primary outcomes evaluated included improvements in gingival inflammation, pocket depth, and clinical attachment levels, with data synthesis conducted according to PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines. Quality assessment and risk of bias were meticulously performed for the included observational studies and randomized controlled trials. Results: The meta-analysis incorporated 8 studies that were used for data extraction, totaling 12,832 patients, revealing a heterogeneous response to tocopherol supplementation, with a pooled odds ratio for efficacy in reducing periodontal disease severity at about 0.97 (95% CI: 0.96–0.98). Noteworthy findings indicated a statistically significant increase in clinical attachment loss and pocket depth with odds ratios ranging from 1.15 to 9.33 when Vitamin E was insufficient. However, the considerable heterogeneity (I² = 88.35%) underscores variations in tocopherol’s effectiveness across different populations and study designs. Conclusions: While tocopherol supplementation shows a modest benefit in managing periodontal disease, particularly in reducing clinical attachment levels and pocket depth, the variability in outcomes emphasizes the necessity for more research to establish standardized treatment protocols and dosages. Full article

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

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15 pages, 2380 KiB

Open AccessArticle

Sex Differences in Intracranial Aneurysms: A Matched Cohort Study

by Vanessa M. Swiatek, Amir Amini, Michelle Marinescu, Claudia A. Dumitru, Lena Spitz, Klaus-Peter Stein, Sylvia Saalfeld, Ali Rashidi, I. Erol Sandalcioglu and Belal Neyazi

J. Pers. Med. 2024, 14(10), 1038; https://doi.org/10.3390/jpm14101038 - 28 Sep 2024

Abstract

Background: Aneurysmal subarachnoid hemorrhage (SAH) predominantly affects women, accounting for 65% of cases. Women have a 1.3 times higher relative risk than men, with the incidence rising particularly in women aged 55–85 years. Women also have a higher prevalence of unruptured intracranial aneurysms [...] Read more.

Background: Aneurysmal subarachnoid hemorrhage (SAH) predominantly affects women, accounting for 65% of cases. Women have a 1.3 times higher relative risk than men, with the incidence rising particularly in women aged 55–85 years. Women also have a higher prevalence of unruptured intracranial aneurysms (IAs), especially after the age of 50 years, and are at greater risk of aneurysm growth and rupture. This study aimed to isolate the influence of sex on rupture rate, bleeding severity, functional outcomes, and complications by using a matched cohort, while also examining the impact of sex on aneurysm localization and multiplicity. Methods: We utilized a retrospectively collected database of 300 patients with 511 IAs. Inclusion criteria included the availability of clinical data and 3D angiography for semi-automatic reconstruction of IA morphology. Female patients and their IA were matched with male patients according to clinical parameters and 21 morphological characteristics using an interactive visual exploration tool for multidimensional matching. Results: Contrary to previously published results, our study found no significant sex differences in rupture rates or vasospasm rates between male and female patients. The severity of SAH, functional outcomes, and complications such as hydrocephalus were also similar in women and men. However, women exhibited a higher prevalence of multiple aneurysms and distinct localization patterns. Conclusion: This study underscores the complex role of sex in IA development and rupture. Although sex-specific biological factors influence aneurysm characteristics, they do not necessarily translate into differences in clinical outcomes. Further research is needed to explore these factors and their impact on aneurysm development and management. Full article

(This article belongs to the Section Sex, Gender and Hormone Based Medicine)

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12 pages, 446 KiB

Open AccessArticle

Dynamic Soluble IL-6R/Soluble gp130 Ratio as a Potential Indicator for the Prostate Malignancy Phenotype—A Multicenter Case–Control Study

by Cosmin-Victor Ene, Bogdan Geavlete, Cristian Mares, Ilinca Nicolae and Corina Daniela Ene

J. Pers. Med. 2024, 14(10), 1037; https://doi.org/10.3390/jpm14101037 - 28 Sep 2024

Abstract

Objective: Prostate tumors, if prostate cancer or adenoma, represent a major public health challenge. Progress in research on inflammation has revealed a connection between inflammation, immunity, and cancer. In this context, this study aimed to find IL-6 signaling systemic abnormalities in the inflammatory [...] Read more.

Objective: Prostate tumors, if prostate cancer or adenoma, represent a major public health challenge. Progress in research on inflammation has revealed a connection between inflammation, immunity, and cancer. In this context, this study aimed to find IL-6 signaling systemic abnormalities in the inflammatory tumor microenvironment. Material and methods: This study was case–controlled, multicentered, and included 86 patients, 43 diagnosed with BPH and 43 diagnosed with PCa, between January 2019 and January 2020. The study group was homogenous and the studied parameters were IL-6 complex (IL-6, soluble receptor IL-6R, soluble glycoprotein gp130), acute phase proteins (C reactive protein—CRP, acid alpha1 glycoprotein—AGPA, ferritin, albumin, transferrin), and oxidative stress-associated variables (malondialdehyde—MDA, carbonylated protein—PCO, 8-hydroxy-deoxy guanosine-8-OHdG, total antioxidant status—bTAS). Results: The inflammatory microenvironment determined IL-6 signaling alterations (over-regulation of sIL-6R and suppression of sgp130 in PCa versus BPH), changes in acute phase reaction markers (increased serum levels of CRP, AGPA, ferritin, and decreased serum levels of albumin, transferrin) that were much more evident in PCa compared to BPH, an imbalance between macromolecular oxidative damage (MDA, PCO, 8-OHdG) and endogenous antioxidants (TAS) that was more accentuated in PCa compared with BPH, and a representative association between the sIL-6R/sgp130 ratio and inflammatory/oxidative stress-related factors only in PCa patients. Conclusions: Our study reconfirms the anterior concept that IL-6 promotes prostatic tumorigenesis. In this study, we first demonstrated that a high sIL-6R/sgp130 ratio facilitates prostate malignancy. Full article

(This article belongs to the Special Issue Novel Diagnostic and Therapeutic Approaches to Urologic Oncology)

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12 pages, 1700 KiB

Open AccessReview

Increased Cadmium Load, Vitamin D Deficiency, and Elevated FGF23 Levels as Pathophysiological Factors Potentially Linked to the Onset of Acute Lymphoblastic Leukemia: A Review

by Vuk Djulejic, Ana Ivanovski, Ana Cirovic and Aleksandar Cirovic

J. Pers. Med. 2024, 14(10), 1036; https://doi.org/10.3390/jpm14101036 - 28 Sep 2024

Abstract

The preventability of acute lymphocytic leukemia during childhood is currently receiving great attention, as it is one of the most common cancers in children. Among the known risk factors so far are those affecting the development of gut microbiota, such as a short [...] Read more.

The preventability of acute lymphocytic leukemia during childhood is currently receiving great attention, as it is one of the most common cancers in children. Among the known risk factors so far are those affecting the development of gut microbiota, such as a short duration or absence of breastfeeding, cesarean section, a diet lacking in short-chain fatty acids (SCFAs), the use of antibiotics, absence of infection during infancy, and lack of pets, among other factors. Namely, it has been shown that iron deficiency anemia (IDA) and lack of vitamin D may cause intestinal dysbiosis, while at the same time, both increase the risk of hematological malignancies. The presence of IDA and vitamin D deficiency have been shown to lead to a decreased proportion of Firmicutes in stool, which could, as a consequence, lead to a deficit of butyrate. Moreover, children with IDA have increased blood concentrations of cadmium, which induces systemic inflammation and is linked to the onset of an inflammatory microenvironment in the bone marrow. Finally, IDA and Cd exposure increase fibroblast growth factor 23 (FGF23) blood levels, which in turn suppresses vitamin D synthesis. A lack of vitamin D has been associated with a higher risk of ALL onset. In brief, as presented in this review, there are three independent ways in which IDA increases the risk of acute lymphocytic leukemia (ALL) appearance. These are: intestinal dysbiosis, disruption of vitamin D synthesis, and an increased Cd load, which has been linked to systemic inflammation. All of the aforementioned factors could generate the appearance of a second mutation, such as ETV6/RUNX1 (TEL-AML), leading to mutation homozygosity and the onset of disease. ALL has been observed in both IDA and thalassemia. However, as IDA is the most common type of anemia and the majority of published data pertains to it, we will focus on IDA in this review. Full article

(This article belongs to the Section Mechanisms of Diseases)

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10 pages, 648 KiB

Open AccessCase Report

The Effect of Therapeutic Exercise and Local Cryotherapy on Lower Limb Enthesitis in Non-Radiographic Axial Spondyloarthritis: A Case Report

by Angelo Alito, Rossella Talotta, Valeria D’Amico, Daniela Amato, Demetrio Milardi and Paolo Capodaglio

J. Pers. Med. 2024, 14(10), 1035; https://doi.org/10.3390/jpm14101035 - 28 Sep 2024

Abstract

Background: Enthesitis is a common feature of spondyloarthritis and can severely impair the patient’s quality of life. International guidelines recommend multidisciplinary management of this condition, combining physical and pharmacological interventions. In this case report, we demonstrate clinical and ultrasonographic improvements by prescribing local [...] Read more.

Background: Enthesitis is a common feature of spondyloarthritis and can severely impair the patient’s quality of life. International guidelines recommend multidisciplinary management of this condition, combining physical and pharmacological interventions. In this case report, we demonstrate clinical and ultrasonographic improvements by prescribing local cryotherapy and therapeutic exercise alone in an adult woman with non-radiographic axial SpA (nRX-AxSpA) complaining of heel enthesitis. Methodology: A personalized program was prescribed that focused on reducing pain, joint stiffness, and muscle tightness, improving strength and endurance. Pain, function, and degree of disability were assessed using the Numerical Rating Scale, the Victorian Institute of Sport Assessment-Achilles, the single-leg heel lift test, and the Foot Function Index. In addition, lower limb muscle strength was measured using a dynamometer and enthesitis was assessed ultrasonographically using the Glasgow Ultrasound Enthesitis Score System. Results: Benefits were evident as early as week 5 and persisted at 3 months on ultrasound assessment. No side effects were reported. Discussion: To the best of our knowledge, this is the first report of prescribing such a strategy in a patient with nRX-AxSpA. Given the good tolerability, this intervention could be considered in patients with contraindications to pharmacologic approaches. Full article

(This article belongs to the Special Issue Cold Perspectives: Advancements and Applications of Cryotherapy in Clinical Settings)

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11 pages, 1225 KiB

Open AccessArticle

Implementing the Risk Stratification and Clinical Management of Breast Cancer Families Using Polygenic Risk Score Evaluation: A Pilot Study

by Barbara Rizzacasa, Vanessa Nicolì, Chantal Tancredi, Chiara Conte, Leila B. Salehi, Miriam Lucia Carriero, Giuliana Longo, Vincenzo Cirigliano, Luis Izquierdo Lopez, Bibiana Palao, Ilaria Portarena, Oreste Claudio Buonomo, Giuseppe Novelli and Michela Biancolella

J. Pers. Med. 2024, 14(10), 1034; https://doi.org/10.3390/jpm14101034 - 27 Sep 2024

Abstract

Background: The identification of women at high risk of breast cancer (BC) is crucial for personalized screening strategies. Pathogenic and likely pathogenic variants (PVs/LPVs) in susceptibility risk genes explain part of the individual risk. Moreover, a polygenic background, summarized as a polygenic risk [...] Read more.

Background: The identification of women at high risk of breast cancer (BC) is crucial for personalized screening strategies. Pathogenic and likely pathogenic variants (PVs/LPVs) in susceptibility risk genes explain part of the individual risk. Moreover, a polygenic background, summarized as a polygenic risk score (PRS), contributes to the risk of BC and may modify the individual risk in carrier and non-carrier members of BC families. Methods: We performed a retrospective pilot study evaluating PRS in women from a subset of high- (BRCA1 and BRCA2) and moderate-risk (PALB2 and ATM) BC families. We included PVs/LPVs carriers and non-carriers and evaluated a PRS based on 577,113 BC-associated variants. Using BOADICEA, we calculated the adjusted lifetime BC risk. Results: Our data showed that in BRCA1/BRCA2 carriers, PVs have a major role in stratifying the lifetime risk, while PRS improves risk estimation in non-carriers of these families. A different scenario may be observed in PALB2 and ATM families where PRS combined with PV/LPV carrier status gives a more informative lifetime risk. Conclusions: This study showed that in BC families, the PRS might help to quantify the weight of the genetic familial background, improving the individual risk stratification and contributing to personalized clinical management for carrier and non-carrier women. Full article

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

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14 pages, 14652 KiB

Open AccessArticle

Prognostic Significance of CD11b-, CD8-, and CD163-Positive Tumor-Infiltrating Immune Cells in Distal Bile Duct Cancer

by Jae Hyung Choi, Joo Young Kim, Ki Rim Lee, Gyeong Yun Lee, Mineui Hong, Hye Won Hwang, Moo Yeol Lee, Mi Kyung Kim and Soon Auck Hong

J. Pers. Med. 2024, 14(10), 1033; https://doi.org/10.3390/jpm14101033 - 27 Sep 2024

Abstract

Background: Distal bile duct cancer is an aggressive malignancy. Tumor-infiltrating immune cells (TIICs) in the tumor microenvironment are crucial for predicting prognosis in various cancers. In this study, we analyzed TIICs based on CD11b, CD163, and CD8 expression, and evaluated their association [...] Read more.

Background: Distal bile duct cancer is an aggressive malignancy. Tumor-infiltrating immune cells (TIICs) in the tumor microenvironment are crucial for predicting prognosis in various cancers. In this study, we analyzed TIICs based on CD11b, CD163, and CD8 expression, and evaluated their association with clinicopathologic factors and prognosis in distal bile duct cancer. Methods: A total of 90 patients who underwent curative resection for distal bile duct cancer were enrolled. We analyzed CD11b+ tumor-infiltrating myeloid cells (TIMs), CD163+ tumor-infiltrating macrophages (TAMs), and CD8+ tumor-infiltrating lymphocytes (TILs) using immunohistochemistry and tissue microarrays. The correlation between TIICs and clinicopathologic characteristics was assessed. Results: Low levels of CD11b+ TIMs (p < 0.001) and high levels of CD8+ TILs (p = 0.003) were significantly associated with improved overall survival (OS). A combined low level of CD11b+ TIMs and high level of CD8+ TILs was identified as an independent favorable prognostic factor (hazard ratio, 0.159; confidence interval, 0.061–0.410; p < 0.001). Conclusions: CD11b+ TIMs play a crucial role in the tumor microenvironment and the prognosis of distal bile duct cancer. The combined analysis of CD11b+ TIMs and CD8+ TILs can predict survival in patients with distal bile duct cancer. Full article

(This article belongs to the Section Disease Biomarker)

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40 pages, 2090 KiB

Open AccessSystematic Review

Normalising the Implementation of Pharmacogenomic (PGx) Testing in Adult Mental Health Settings: A Theory-Based Systematic Review

by Adam Jameson, Justine Tomlinson, Kristina Medlinskiene, Dane Howard, Imran Saeed, Jaspreet Sohal, Caroline Dalton, Gurdeep S. Sagoo, Alastair Cardno, Greg C. Bristow, Beth Fylan and Samantha L. McLean

J. Pers. Med. 2024, 14(10), 1032; https://doi.org/10.3390/jpm14101032 - 27 Sep 2024

Abstract

Pharmacogenomic (PGx) testing can help personalise psychiatric prescribing and improve on the currently adopted trial-and-error prescribing approach. However, widespread implementation is yet to occur. Understanding factors influencing implementation is pertinent to the psychiatric PGx field. Normalisation Process Theory (NPT) seeks to understand the [...] Read more.

Pharmacogenomic (PGx) testing can help personalise psychiatric prescribing and improve on the currently adopted trial-and-error prescribing approach. However, widespread implementation is yet to occur. Understanding factors influencing implementation is pertinent to the psychiatric PGx field. Normalisation Process Theory (NPT) seeks to understand the work involved during intervention implementation and is used by this review (PROSPERO: CRD42023399926) to explore factors influencing PGx implementation in psychiatry. Four databases were systematically searched for relevant records and assessed for eligibility following PRISMA guidance. The QuADS tool was applied during quality assessment of included records. Using an abductive approach to codebook thematic analysis, barrier and facilitator themes were developed using NPT as a theoretical framework. Twenty-nine records were included in the data synthesis. Key barrier themes included a PGx knowledge gap, a lack of consensus in policy and guidance, and uncertainty towards the use of PGx. Facilitator themes included an interest in PGx use as a new and improved approach to prescribing, a desire for a multidisciplinary approach to PGx implementation, and the importance of fostering a climate for PGx implementation. Using NPT, this novel review systematically summarises the literature in the psychiatric PGx implementation field. The findings highlight a need to develop national policies on using PGx, and an education and training workforce plan for mental health professionals. By understanding factors influencing implementation, the findings help to address the psychiatric PGx implementation gap. This helps move clinical practice closer towards a personalised psychotropic prescribing approach and associated improvements in patient outcomes. Future policy and research should focus on the appraisal of PGx implementation in psychiatry and the role of pharmacists in PGx service design, implementation, and delivery. Full article

(This article belongs to the Section Pharmacogenetics)

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13 pages, 1059 KiB

Open AccessPerspective

Groups and Subgroups in Autism Spectrum Disorder (ASD) Considering an Advanced Integrative Model (AIM)

by Andrés Ciolino, María Luján Ferreira and Nicolás Loyacono

J. Pers. Med. 2024, 14(10), 1031; https://doi.org/10.3390/jpm14101031 - 27 Sep 2024

Abstract

Background: Autism spectrum disorder (ASD) is related to social communication difficulties, repetitive behaviors, and highly restricted interests beginning early in life. Currently, ASD is more diagnosed than in the past, and new models are needed. The Advanced Integrative Model (AIM) is a new [...] Read more.

Background: Autism spectrum disorder (ASD) is related to social communication difficulties, repetitive behaviors, and highly restricted interests beginning early in life. Currently, ASD is more diagnosed than in the past, and new models are needed. The Advanced Integrative Model (AIM) is a new model in which genes and concomitant medical problems to diagnosis (CMPD) and the impact of their rigorous and adequate treatment are considered. Methods: The role of a dynamic encephalopathy from which the individual response, susceptibilities in the brain and outside the brain, gut barrier and brain–blood-barrier permeabilities, and the plastic nature of the brain is proposed as a tool for diagnosis. The concomitant medical problems (CMP) are those at and outside the brain. The individual response to treatments of CMP is analyzed. Results: The AIM allows for classification into 3 main groups and 24 subgroups. Conclusions: The groups and subgroups in ASD are obtained taking into account CMPD treatments and individual response. Full article

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

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7 pages, 213 KiB

Open AccessCommunication

The Role of Stereotactic Body Radiotherapy (SBRT) in Oligoprogressive Renal Cell Carcinoma (RCC) Treated with ICIs–TKIs: A Retrospective Multicentric Study

by Maria La Vecchia, Manuela Federico, Dario Aiello, Valentina Zagardo, Antonella Mazzonello, Lorella Testa, Leonarda La Paglia, Tiziana Bruno and Ivan Fazio

J. Pers. Med. 2024, 14(10), 1030; https://doi.org/10.3390/jpm14101030 - 27 Sep 2024

Abstract

Background: This multicentric, retrospective study investigated the use of stereotactic body radiotherapy (SBRT) in patients (pts) with metastatic renal cell carcinoma (mRCC) who experienced oligoprogression during a combination therapy with an immune checkpoint inhibitor (ICI) and a tyrosine–kinase inhibitor (TKI). Methods: We retrospectively [...] Read more.

Background: This multicentric, retrospective study investigated the use of stereotactic body radiotherapy (SBRT) in patients (pts) with metastatic renal cell carcinoma (mRCC) who experienced oligoprogression during a combination therapy with an immune checkpoint inhibitor (ICI) and a tyrosine–kinase inhibitor (TKI). Methods: We retrospectively evaluated 34 pts affected by oligoprogressive RCC treated with an ICI–TKI combination between January 2020 and December 2023. SBRT was delivered to each site of oligoprogressive metastatic disease. After SBRT, pts were given follow-up clinical evaluations. 6–12–18-month local control (LC) rates and median next-line treatment-free survival (NEST-FS) were the primary endpoints. The secondary endpoints were overall response rate (ORR), clinical benefits and safety. Results: After a median follow-up of 24 months, 6–12–18-month LC rates were 100%, 71% and 43%, respectively, and the median NEST-FS was 20 months. ORR was 90%, while clinical benefit was 100%. No > G2 adverse events related to SBRT were recorded. Conclusions: In our study, SBRT for oligoprogressive mRCC turned out to be a safe and useful treatment which was able to preserve current treatment. Further prospective studies are necessary to explore the effects of the ICIs–TKIs combination and SBRT upon oligoprogressive sites in mRCC. Full article

(This article belongs to the Special Issue Cancer Immunotherapy: Current Advancements and Future Perspectives)

16 pages, 3573 KiB

Open AccessArticle

Patients’ Satisfaction after the Treatment of Moderate Sleep Apnea and Nocturnal Bruxism with Botox or/and Thermoformed Occlusal Splints: A Pilot Study

by Taalat Gabriel Rezk Gavrilă, Anamaria Bechir, Andrada Camelia Nicolau and Edwin Sever Bechir

J. Pers. Med. 2024, 14(10), 1029; https://doi.org/10.3390/jpm14101029 - 26 Sep 2024

Abstract

Background: Sleep apnea and nocturnal bruxism belong to sleep disorders that can affect the quality of life. The aim of this study was to investigate the effects on patients with moderate sleep apnea and nocturnal bruxism of Botox injection as monotherapy or [...] Read more.

Background: Sleep apnea and nocturnal bruxism belong to sleep disorders that can affect the quality of life. The aim of this study was to investigate the effects on patients with moderate sleep apnea and nocturnal bruxism of Botox injection as monotherapy or associated with wearing thermoformed occlusal splints and to determine the patients’ satisfaction degree after the applied treatments. Methods: The selected patients for study were divided into two groups: in the first group, the patients (n = 18) treatment consisted of injecting Botox (Allergan) into the masseter muscle as monotherapy; in the second group, the patients (n = 18) benefited from associated therapy, Botox injections in masseter muscle, and the wear of thermoformed occlusal splints. At baseline, at three weeks, at three months, and six months after the effectuation of therapies, the monitoring sessions were realized. Results: The associated therapy presented better results in decreasing the studied symptoms than the monotherapy. Both therapies improved patient satisfaction. Conclusions: The applied therapies for treating the specific symptomatology in moderate sleep apnea and sleep bruxism were efficacious. Patient satisfaction was very good in both groups after the applied treatments, but the associated therapy presented better results than monotherapy. Full article

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

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1 pages, 169 KiB

Open AccessCorrection

Correction: Barthélémy et al. Direct Comparative Analysis of a Pharmacogenomics Panel with PacBio Hifi^® Long-Read and Illumina Short-Read Sequencing. J. Pers. Med. 2023, 13, 1655

by David Barthélémy, Elodie Belmonte, Laurie Di Pilla, Claire Bardel, Eve Duport, Veronique Gautier and Léa Payen

J. Pers. Med. 2024, 14(10), 1028; https://doi.org/10.3390/jpm14101028 - 26 Sep 2024

Abstract

In the original publication [...] Full article

(This article belongs to the Section Pharmacogenetics)

6 pages, 207 KiB

Open AccessOpinion

Teprotumumab for the Treatment of Thyroid Eye Disease: Why Should We Keep Our Eyes “Wide Open”?—A Clinical and Pharmacovigilance Point of View

by Arnaud Martel, Fanny Rocher and Alexandre Gerard

J. Pers. Med. 2024, 14(10), 1027; https://doi.org/10.3390/jpm14101027 - 26 Sep 2024

Abstract

Objectives: Thyroid eye disease (TED) treatment has been recently revolutionized with the approval of teprotumumab, a targeted insulin growth factor 1 receptor (IGF1R) inhibitor. To date, teprotumumab is the only FDA-approved drug for treating TED. In this article, we would like to temper [...] Read more.

Objectives: Thyroid eye disease (TED) treatment has been recently revolutionized with the approval of teprotumumab, a targeted insulin growth factor 1 receptor (IGF1R) inhibitor. To date, teprotumumab is the only FDA-approved drug for treating TED. In this article, we would like to temper the current enthusiasm around IGF1R inhibitors. Methods: critical review of the literature by independent academic practitioners. Results: several questions should be raised. First, “how an orphan drug has become a blockbuster with annual sales exceeding $1 billion?” Teprotumumab infusions are expensive, costing about USD 45,000 for one infusion and USD 360,000 for eight infusions in a 75 kg patient. Teprotumumab approval was based on two randomized clinical trials investigating active (clinical activity score ≥ 4) TED patients. Despite this, teprotumumab was approved by the FDA for “the treatment of TED” without distinguishing between active and inactive forms. The second question is as follows: “how can a new drug, compared only to a placebo, become the new standard without being compared to historically established gold standard medical or surgical treatments?” Teprotumumab has never been compared to other medical treatments in active TED nor to surgery in chronic TED. Up to 75% of patients may experience proptosis regression after treatment discontinuation. Finally, ototoxicity has emerged as a potentially devastating side effect requiring frequent monitoring. Investigation into the long-term side effects, especially in women of childbearing age, is also warranted. Conclusions: Teprotumumab is undoubtedly a major treatment option in TED. However, before prescribing a drug, practitioners should assess its benefit/risk ratio based on the following: (i) evidence-based medicine; (ii) their empirical experience; (iii) the cost/benefit analysis; (iv) the long-term outcomes and safety profile. Full article

(This article belongs to the Section Evidence Based Medicine)

10 pages, 614 KiB

Open AccessArticle

Comparative Clinical Characteristics of Frail Older Adults in the Emergency Department: Long-Term Care Hospital versus Community Residence

by Yunhyung Choi, Hosub Chung, Jiyeon Lim, Keon Kim, Sungjin Bae, Yoonhee Choi and Donghoon Lee

J. Pers. Med. 2024, 14(10), 1026; https://doi.org/10.3390/jpm14101026 - 26 Sep 2024

Abstract

Background/objective: Older patients from long-term care hospitals (LTCHs) presenting to emergency departments (EDs) exhibit a higher prevalence of frailty than those from the community. However, no study has examined frailty in patients from LTCHs in the ED. This study compared frailty in older [...] Read more.

Background/objective: Older patients from long-term care hospitals (LTCHs) presenting to emergency departments (EDs) exhibit a higher prevalence of frailty than those from the community. However, no study has examined frailty in patients from LTCHs in the ED. This study compared frailty in older patients from LTCHs and the community. Methods: We retrospectively analyzed data from the EDs of three university hospitals between 1 August and 31 October 2023, involving 5908 patients (515 from LTCHs and 5393 from the community). The Korean version of the Clinical Frailty Scale (CFS-K) was used to assess individuals aged 65 and older. We compared clinical characteristics, frailty, length of stay (LOS), and diagnosis between patients from LTCHs (LTCH group) and the community (community group). Results: Among ED patients, 55.0% and 35.2% in the LTCH and the community groups, respectively, were frail (p < 0.001). Of these, 71.7% in the LTCH group were hospitalized compared with 53.1% in the community group (p = 0.001). The odds ratio for in-hospital mortality was 4.910 (95% CI 1.458–16.534, p = 0.010) for frail LTCH patients and 3.748 (95% CI 2.599–5.405, p < 0.001) for frail community patients, compared to non-frail patients. Conclusions: Patients from LTCHs with frailty had higher hospital admission rates and increased in-hospital mortality compared to those in the community at the same frailty level. This study offers essential insights into the characteristics of older patients in LTCHs for healthcare administrators and medical staff worldwide. Full article

(This article belongs to the Special Issue Geriatric Medicine: Towards Personalized Medicine)

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16 pages, 1367 KiB

Open AccessArticle

Population Heterogeneity and Selection of Coronary Artery Disease Polygenic Scores

by Carla Debernardi, Angelo Savoca, Alessandro De Gregorio, Elisabetta Casalone, Miriam Rosselli, Elton Jalis Herman, Cecilia Di Primio, Rosario Tumino, Sabina Sieri, Paolo Vineis, Salvatore Panico, Carlotta Sacerdote, Diego Ardissino, Rosanna Asselta and Giuseppe Matullo

J. Pers. Med. 2024, 14(10), 1025; https://doi.org/10.3390/jpm14101025 - 26 Sep 2024

Abstract

Background/Objectives: The identification of coronary artery disease (CAD) high-risk individuals is a major clinical need for timely diagnosis and intervention. Many different polygenic scores (PGSs) for CAD risk are available today to estimate the genetic risk. It is necessary to carefully choose the [...] Read more.

Background/Objectives: The identification of coronary artery disease (CAD) high-risk individuals is a major clinical need for timely diagnosis and intervention. Many different polygenic scores (PGSs) for CAD risk are available today to estimate the genetic risk. It is necessary to carefully choose the score to use, in particular for studies on populations, which are not adequately represented in the large datasets of European biobanks, such as the Italian one. This work aimed to analyze which PGS had the best performance within the Italian population. Methods: We used two Italian independent cohorts: the EPICOR case–control study (576 individuals) and the Atherosclerosis, Thrombosis, and Vascular Biology (ATVB) Italian study (3359 individuals). We evaluated 266 PGS for cardiovascular disease risk from the PGS Catalog, selecting 51 for CAD. Results: Distributions between patients and controls were significantly different for 49 scores (p-value < 0.01). Only five PGS have been trained and tested for the European population specifically. PGS003727 demonstrated to be the most accurate when evaluated independently (EPICOR AUC = 0.68; ATVB AUC = 0.80). Taking into account the conventional CAD risk factors further enhanced the performance of the model, particularly in the ATVB study (p-value = 0.0003). Conclusions: European CAD PGS could have different risk estimates in peculiar populations, such as the Italian one, as well as in various geographical macro areas. Therefore, further evaluation is recommended for clinical applicability. Full article

(This article belongs to the Section Omics/Informatics)

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12 pages, 272 KiB

Open AccessReview

Clinical Application of 3D-Printed Artificial Vertebral Body (3DP AVB): A Review

by Roman Kiselev and Aleksander Zheravin

J. Pers. Med. 2024, 14(10), 1024; https://doi.org/10.3390/jpm14101024 - 26 Sep 2024

Abstract

Introduction: The choice of prosthesis for vertebral body reconstruction (VBR) remains a controversial issue due to the lack of a reliable solution. The subsidence rate of the most commonly used titanium mesh cages (TMC) ranges from 42.5% to 79.7%. This problem is [...] Read more.

Introduction: The choice of prosthesis for vertebral body reconstruction (VBR) remains a controversial issue due to the lack of a reliable solution. The subsidence rate of the most commonly used titanium mesh cages (TMC) ranges from 42.5% to 79.7%. This problem is primarily caused by the differences in the elastic modulus between the TMC and bone. This review aims to summarize the clinical and radiological outcomes of new 3D-printed artificial vertebral bodies (3DP AVB). Methods: A literature search of PubMed, Scopus and Google Scholar was conducted to extract relevant studies. After screening the titles and abstracts, a total of 50 articles were selected for full-text analysis. Results: Preliminary data suggest fewer implant-related complications with 3DP AVB. Most comparative studies indicate significantly lower subsidence rates, reduced operation times and decreased intraoperative blood loss. However, the scarcity of randomized clinical trials and the high variability of the results warrant caution. Conclusion: Most literature data show an advantage of 3DP AVB in terms of the operation time, intraoperative blood loss and subsidence rate. However, long manufacturing times, high costs and regulatory issues are this technology’s main drawbacks. Full article

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

11 pages, 700 KiB

Open AccessArticle

Subthalamic Stimulation Improves Short-Term Satisfaction with Life and Treatment in Parkinson’s Disease

by Anna Sauerbier, Pia Bachon, Leire Ambrosio, Philipp A. Loehrer, Alexandra Rizos, Stefanie T. Jost, Alexandra Gronostay, Gereon R. Fink, Keyoumars Ashkan, Christopher Nimsky, Veerle Visser-Vandewalle, K. Ray Chaudhuri, Lars Timmermann, Pablo Martinez-Martin and Haidar S. Dafsari

J. Pers. Med. 2024, 14(10), 1023; https://doi.org/10.3390/jpm14101023 - 26 Sep 2024

Abstract

The effect of subthalamic stimulation (STN-DBS) on patients’ personal satisfaction with life and their Parkinson’s disease (PD) treatment is understudied, as is its correlation with quality of life (QoL). Therefore, we tested the hypothesis that STN-DBS for PD enhances satisfaction with life and [...] Read more.

The effect of subthalamic stimulation (STN-DBS) on patients’ personal satisfaction with life and their Parkinson’s disease (PD) treatment is understudied, as is its correlation with quality of life (QoL). Therefore, we tested the hypothesis that STN-DBS for PD enhances satisfaction with life and treatment. In a prospective, multicenter study with a 6-month follow-up involving 121 patients, we measured the main outcomes using the Satisfaction with Life and Treatment Scale (SLTS-7). Secondary outcomes included the eight-item PD Questionnaire (PDQ-8), European QoL Questionnaire (EQ-5D-3L), EQ-Visual Analogue Scale (VAS), Non-Motor Symptom Scale (NMSS), Hospital Anxiety and Depression Scale (HADS), and Unified PD Rating Scale (UPDRS). Longitudinal outcome changes, effect sizes (Cohen’s d), and correlations between outcome changes were analyzed. SLTS-7 scores improved at the 6-month follow-up, particularly in the domains of ‘satisfaction with physical health’ and ‘satisfaction with treatment’. Change scores correlated strongly (EQ-VAS), moderately (PDQ-8 SI and HADS), and weakly (UPDRS-activities of daily living and EQ-5D-3L) with other scales. Satisfaction with physical health, psychosocial well-being, or treatment was not related to UPDRS-motor examination. This study provides evidence that STN-DBS enhances patients’ personal satisfaction with life and treatment. This satisfaction is associated with improvements in the QoL, daily activities, and neuropsychiatric aspects of PD rather than its motor aspects. Full article

(This article belongs to the Special Issue Towards Precision Medicine in Parkinson’s Disease)

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9 pages, 1490 KiB

Open AccessArticle

Evaluating Generative AI’s Ability to Identify Cancer Subtypes in Publicly Available Structured Genetic Datasets

by Ethan Hillis, Kriti Bhattarai and Zachary Abrams

J. Pers. Med. 2024, 14(10), 1022; https://doi.org/10.3390/jpm14101022 - 25 Sep 2024

Abstract

Background: Genetic data play a crucial role in diagnosing and treating various diseases, reflecting a growing imperative to integrate these data into clinical care. However, significant barriers such as the structure of electronic health records (EHRs), insurance costs for genetic testing, and the [...] Read more.

Background: Genetic data play a crucial role in diagnosing and treating various diseases, reflecting a growing imperative to integrate these data into clinical care. However, significant barriers such as the structure of electronic health records (EHRs), insurance costs for genetic testing, and the interpretability of genetic results impede this integration. Methods: This paper explores solutions to these challenges by combining recent technological advances with informatics and data science, focusing on the diagnostic potential of artificial intelligence (AI) in cancer research. AI has historically been applied in medical research with limited success, but recent developments have led to the emergence of large language models (LLMs). These transformer-based generative AI models, trained on vast datasets, offer significant potential for genetic and genomic analyses. However, their effectiveness is constrained by their training on predominantly human-written text rather than comprehensive, structured genetic datasets. Results: This study reevaluates the capabilities of LLMs, specifically GPT models, in performing supervised prediction tasks using structured gene expression data. By comparing GPT models with traditional machine learning approaches, we assess their effectiveness in predicting cancer subtypes, demonstrating the potential of AI models to analyze real-world genetic data for generating real-world evidence. Full article

(This article belongs to the Special Issue AI and Precision Medicine: Innovations and Applications)

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