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J. Pers. Med., Volume 13, Issue 12 (December 2023) – 103 articles

Cover Story (view full-size image):

Sepsis is a medical emergency that requires urgent intervention, but is commonly misdiagnosed or has delayed diagnosis due to both a clinical presentation that is often nonspecific and lack of a definitive diagnostic test.  Providers are often tasked with making an empiric diagnosis and initiating treatment with incomplete evidence using only initial presentation and history as inputs. This can lead to a sepsis diagnosis being largely dependent upon clinical judgment, which can differ substantially between providers.

In this manuscript, we aim to explore two case presentations to fully characterize and evaluate the extent of variability in expert clinician assessments of sepsis prior to the availability of a sepsis diagnostic and discuss potential ways a specific rapid host response test might be used to increase consistency in the approach to sepsis diagnosis. View this paper

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15 pages, 1305 KiB  
Article
Effect of Anterioposterior Weight-Shift Training with Visual Biofeedback in Patients with Step Length Asymmetry after Subacute Stroke
J. Pers. Med. 2023, 13(12), 1726; https://doi.org/10.3390/jpm13121726 - 18 Dec 2023
Viewed by 784
Abstract
Step length asymmetry is a characteristic feature of gait in post-stroke patients. A novel anterioposterior weight-shift training method with visual biofeedback (AP training) was developed to improve the forward progression of the trunk. This study aimed to investigate the effect of AP training [...] Read more.
Step length asymmetry is a characteristic feature of gait in post-stroke patients. A novel anterioposterior weight-shift training method with visual biofeedback (AP training) was developed to improve the forward progression of the trunk. This study aimed to investigate the effect of AP training on gait asymmetries, patterns, and gait-related function in subacute stroke patients. Forty-six subacute stroke patients were randomly assigned to the AP training group or the control group. The AP training group received conventional gait training and AP training five times per week for 4 weeks. The control group received the same intensity of conventional gait training with patient education for self-anterior weight shifting. Plantar pressure analysis, gait analysis, energy consumption, and gait-related behavioral parameters were assessed before and after training. The AP training group showed significant improvement in step length asymmetry, forefoot contact area and pressure, Berg balance scale score, and Fugl-Meyer assessment scale of lower extremity score compared to the control group (p < 0.05). However, there was no significant between-group difference with respect to energy cost and kinetic and kinematic gait parameters. In conclusion, AP training may help improve the asymmetric step length in stroke patients, and also improve anterior weight shifting, balance, and motor function in subacute stroke survivors. Full article
(This article belongs to the Section Methodology, Drug and Device Discovery)
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12 pages, 2550 KiB  
Article
Prevalent Variants in the LDLR Gene Impair Responsiveness to Rosuvastatin among Family Members of Patients with Premature Myocardial Infarction
J. Pers. Med. 2023, 13(12), 1725; https://doi.org/10.3390/jpm13121725 - 18 Dec 2023
Viewed by 1138
Abstract
Background: Familial hypercholesterolemia (FH) is an inherited metabolic disorder characterized by high levels of low-density lipoprotein cholesterol (LDL-c) from birth. About 85% of all FH cases are caused by pathogenic variants in the LDLR gene. Individuals with FH have increased cardiovascular risk, including [...] Read more.
Background: Familial hypercholesterolemia (FH) is an inherited metabolic disorder characterized by high levels of low-density lipoprotein cholesterol (LDL-c) from birth. About 85% of all FH cases are caused by pathogenic variants in the LDLR gene. Individuals with FH have increased cardiovascular risk, including a high risk of premature myocardial infarction (PMI). Methods: We conducted an opportunistic exome screening to identify variants in the LDLR gene among Vietnamese patients with PMI treated at a general hospital in southern Vietnam. A cascade testing for LDLR variants was conducted in their relatives within three generations, and the effects of the LDLR variant on the response to rosuvastatin treatment were also studied using a comparative before-and-after study design on those who were eligible. Results: A total of 99 participants from the three generations of four PMI patients were recruited, mean age 37.3 ± 18.5 years, 56.6% males. Sanger sequencing revealed two variants in the LDLR gene: variant rs577934998 (c.664T>C), detected in 17 individuals within one family, and variant rs12710260 (c.1060+10G>C), found in 32 individuals (49.5%) in the other three families tested. Individuals harboring the variant c.664T>C had significantly higher baseline LDL-c and total cholesterol levels compared to those with variant c.1060+10G>C (classified as benign) or those without LDLR variants, and among the 47 patients subjected to a 3-month course of rosuvastatin therapy, those with variant c.664T>C had a significantly higher risk of not achieving the LDL-c target after the course of treatment compared to the c.1060+10G>C carriers. Conclusions: These findings provide evidence supporting the existence of pathogenic LDLR variants in Vietnamese patients with PMI and their relatives and may indicate the need for personalizing lipid-lowering therapies. Further studies are needed to delineate the extent and severity of the problem. Full article
(This article belongs to the Section Pharmacogenetics)
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10 pages, 1435 KiB  
Article
Significance of S100B Protein as a Rapid Diagnostic Tool in Emergency Departments for Traumatic Brain Injury Patients
J. Pers. Med. 2023, 13(12), 1724; https://doi.org/10.3390/jpm13121724 - 18 Dec 2023
Viewed by 760
Abstract
Traumatic brain injuries (TBIs) are not only the leading cause of death among people below 44 years of age, but also one of the biggest diagnostic challenges in the emergency set up. We believe that the use of serum biomarkers in diagnosis can [...] Read more.
Traumatic brain injuries (TBIs) are not only the leading cause of death among people below 44 years of age, but also one of the biggest diagnostic challenges in the emergency set up. We believe that the use of serum biomarkers in diagnosis can help to improve patient care in TBI. One of them is the S100B protein, which is currently proposed as a promising diagnostic tool for TBI and its consequences. In our study, we analyzed serum biomarker S100B in 136 patients admitted to the Emergency Department of the Regional Specialist Hospital in Olsztyn. Participants were divided into three groups: patients with head trauma and alcohol intoxication, patients with head trauma with no alcohol intoxication and a control group of patients with no trauma or with injury in locations other than the head. In our study, as compared to the control group, patients with TBI had a significantly higher S100B level (both with and without intoxication). Moreover, in both groups, the mean S100B protein level was significantly higher in patients with pathological changes in CT. According to our study results, the S100B protein is a promising diagnostic tool, and we propose including its evaluation in routine regimens in patients with TBI. Full article
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10 pages, 280 KiB  
Article
Relationship and New Prospectives in Joint Hypermobility in Children with Autism Spectrum Disorder: Preliminary Data
J. Pers. Med. 2023, 13(12), 1723; https://doi.org/10.3390/jpm13121723 - 18 Dec 2023
Viewed by 785
Abstract
Autism spectrum disorder (ASD) and joint hypermobility (JH) are considered two different etiological and clinical entities that most often appear in childhood. Despite growing increased research showing a co-occurrence for both conditions, a link between them is rarely established in clinical settings, and [...] Read more.
Autism spectrum disorder (ASD) and joint hypermobility (JH) are considered two different etiological and clinical entities that most often appear in childhood. Despite growing increased research showing a co-occurrence for both conditions, a link between them is rarely established in clinical settings, and the relationship between ASD and JH has not so far been completely investigated in all age groups of ASD children. This preliminary study examined a cohort of 67 non-syndromic ASD children aged 2–18 years (sex ratio M:F = 12:1) showing different degrees of cognitive impairment and autism severity, using the Beighton scale and its revised version. A total of 63% of ASD patients aged 2–4 years and 73% of ASD patients aged ≥5 years presented significant scores of hypermobility. No significant correlation was found comparing total laxity score and cognitive assessments and severity of autistic symptomatology (p > 0.05). The results suggest that JH could be considered as a clinical characteristic of ASD patients and it needs to be assessed in order to schedule a better rehabilitation program. Full article
(This article belongs to the Section Disease Biomarker)
10 pages, 382 KiB  
Article
Association between Conflicts of Interest Disclosure and Quality of Clinical Practice Guidelines in Japan: A Meta-Epidemiological Study
J. Pers. Med. 2023, 13(12), 1722; https://doi.org/10.3390/jpm13121722 - 17 Dec 2023
Viewed by 1148
Abstract
Accurate disclosure of financial conflicts of interest (COI) among clinical practice guideline (CPG) developers is critical to ensure the quality of CPGs. However, there is limited evidence on the impact of underreporting COIs on the quality of CPGs. This study aimed to examine [...] Read more.
Accurate disclosure of financial conflicts of interest (COI) among clinical practice guideline (CPG) developers is critical to ensure the quality of CPGs. However, there is limited evidence on the impact of underreporting COIs on the quality of CPGs. This study aimed to examine the proportion of underreported COI disclosures in the development of Japanese CPGs and to estimate the association between underreported COIs and CPG quality using the Appraisal of Guidelines for Research & Evaluation (AGREE) II. Twenty-three Japanese CPGs published in 2019 and their 1114 developers were included in the study. The results show that underreporting of COIs occurred in 52% of the included CPGs and 8% of all CPG developers. Underreporting COI disclosures was negatively associated with low-quality CPG (Odds ratio [OR], 0.57; 95% confidence interval [CI]: 0.11, 3.04). On the other hand, CPGs that had more than 13% of CPG developers with voting rights on recommendation decisions and underreporting of COI disclosures were positively associated with low quality (OR, 1.78; 95% CI: 0.25, 12.45). For individual CPG developers with voting rights for recommendation decisions, the presence of a COI was positively associated with low quality (OR, 1.11; 95% CI: 0.71, 1.75). This study demonstrates that the involvement and underreporting of COIs did not seriously distort the CPG development process. However, the COI-related factors of CPG developers with voting rights for recommendation decisions may be associated with low CPG quality. Full article
(This article belongs to the Section Epidemiology)
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14 pages, 1579 KiB  
Article
Analysis of the Larissa Heart Failure Risk Score: Predictive Value in 9207 Patients Hospitalized for Heart Failure from a Single Center
J. Pers. Med. 2023, 13(12), 1721; https://doi.org/10.3390/jpm13121721 - 17 Dec 2023
Viewed by 634
Abstract
Early risk stratification is of outmost clinical importance in hospitalized patients with heart failure (HHF). We examined the predictive value of the Larissa Heart Failure Risk Score (LHFRS) in a large population of HHF patients from the Cleveland Clinic. A total of 13,309 [...] Read more.
Early risk stratification is of outmost clinical importance in hospitalized patients with heart failure (HHF). We examined the predictive value of the Larissa Heart Failure Risk Score (LHFRS) in a large population of HHF patients from the Cleveland Clinic. A total of 13,309 admissions for heart failure (HF) from 9207 unique patients were extracted from the Cleveland Clinic’s electronic health record system. For each admission, components of the 3-variable simple LHFRS were obtained, including hypertension history, myocardial infarction history, and red blood cell distribution width (RDW) ≥ 15%. The primary outcome was a HF readmission and/or all-cause mortality at one year, and the secondary outcome was all-cause mortality at one year of discharge. For both outcomes, all variables were statistically significant, and the Kaplan–Meier curves were well-separated and in a consistent order (Log-rank test p-value < 0.001). Higher LHFRS values were found to be strongly related to patients experiencing an event, showing a clear association of LHFRS with this study outcomes. The bootstrapped-validated area under the curve (AUC) for the logistic regression model for each outcome revealed a C-index of 0.64 both for the primary and secondary outcomes, respectively. LHFRS is a simple risk model and can be utilized as a basis for risk stratification in patients hospitalized for HF. Full article
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13 pages, 2136 KiB  
Article
Increased CD16a (FcγRIIIA) Expression in The Tumor Microenvironment of Atypical Neurofibromatous Neoplasms of Uncertain Biologic Potential May Be Associated with Progression from Neurofibromas to Atypical Neurofibromas
J. Pers. Med. 2023, 13(12), 1720; https://doi.org/10.3390/jpm13121720 - 17 Dec 2023
Viewed by 699
Abstract
Neurofibroma (NF) is a benign tumor in the peripheral nervous system, but it can infiltrate around structures and cause functional impairment and disfigurement. We incidentally found that the expression of CD16a (Fc gamma receptor IIIA) was increased in NFs compared to in non-neoplastic [...] Read more.
Neurofibroma (NF) is a benign tumor in the peripheral nervous system, but it can infiltrate around structures and cause functional impairment and disfigurement. We incidentally found that the expression of CD16a (Fc gamma receptor IIIA) was increased in NFs compared to in non-neoplastic nerves and hypothesized that CD16 could be relevant to NF progression. We evaluated the expressions of CD16a, CD16b, CD68, TREM2, Galectin-3, S-100, and SOX10 in 38 cases of neurogenic tumors (NF, n = 18; atypical neurofibromatous neoplasm of uncertain biologic potential (ANNUBP), n = 14; and malignant peripheral nerve sheath tumor (MPNST), n = 6) by immunohistochemical staining. In the tumor microenvironment (TME) of the ANNUBPs, CD16a and CD16b expression levels had increased more than in the NFs or MPNSTs. CD68 and Galectin-3 expression levels in the ANNUBPs were higher than in the MPNSTs. Dual immunohistochemical staining showed an overlapping pattern for CD16a and CD68 in TME immune cells. Increased CD16a expression was detected in the ANNUBPs compared to the NFs but decreased with malignant progression. The CD16a overexpression with CD68 positivity in the ANNUBPs potentially reflects that the TME immune modulation could be associated with NF progression to an ANNUBP. Further studies should explore the role of CD16a in immunomodulation for accelerating NF growth. Full article
(This article belongs to the Section Clinical Medicine, Cell, and Organism Physiology)
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12 pages, 1359 KiB  
Article
Patient Adherence to Written Instructions following Complete Allergological Evaluation for Suspected Beta-Lactam Allergy: A Tertiary Hospital Study in Greece
J. Pers. Med. 2023, 13(12), 1719; https://doi.org/10.3390/jpm13121719 - 17 Dec 2023
Viewed by 916
Abstract
Background: Beta-lactam (BL) antibiotics are among the most prescribed groups of drugs worldwide and have been implicated in a variety of allergic reactions. There is a paucity of literature regarding patient adherence to prescribed instructions following comprehensive allergy assessments. Objective: The objective was [...] Read more.
Background: Beta-lactam (BL) antibiotics are among the most prescribed groups of drugs worldwide and have been implicated in a variety of allergic reactions. There is a paucity of literature regarding patient adherence to prescribed instructions following comprehensive allergy assessments. Objective: The objective was to follow up the clinical course of BL allergy in patients who underwent thorough allergological investigation for suspected BL allergy at a tertiary hospital and ascertain patients’ compliance with the provided written instructions. Materials: An observational study in patients referred for suspected BL allergy who underwent a comprehensive allergy workup (in vivo ± in vitro tests, DPT in culprit and/or alternative BL) and who subsequently received written instructions was conducted. Data on the nature of the reported drug hypersensitivity reaction, the culprit BL drug, the allergological workup, and the detailed instructions provided in a written drug allergy report were collected retrospectively. Patients’ compliance with the instructions was recorded by a telephone survey using a pre-defined questionnaire. Results: Among the 212 patients meeting the inclusion criteria, 87 patients (72.4% women; mean age 50.1 years; age range 6–84 years) responded to the telephone survey and were included in this study. Surprisingly, 45 out of 87 (51.7%) patients did not adhere to the written instructions. The primary factor contributing to non-compliance was the fear of re-occurrence of a drug-induced allergic reaction (personal and/or triggered by their treating physician reluctance), accounting for 77.7% of cases. The analysis demonstrated that the initial reaction’s severity and type, as well as the outcomes of skin testing, did not correlate with compliance to instructions (p > 0.05). Surprisingly enough, a drug provocation test (DPT), irrespectively of the result, emerged as a negative predictor for adherence, with only 40.6% of DPT patients complying compared to 77.8% of those who did not undergo DPT (p = 0.005; odds ratio = 0.195; 95% confidence interval: 0.058–0.655). Variables such as performing DPT with alternative or incriminated drugs or the result of the DPT (positive–negative) were not associated with patient compliance. Conversely, the type of instructions provided exhibited a noteworthy correlation with compliance. Patients who were explicitly instructed to entirely avoid all BL antibiotics demonstrated markedly higher adherence rates (83.3%) compared to those who were advised to have a partial or complete release of BLs (31.8% and 58.1%, respectively; p < 0.05). Notably, among compliant patients who received either the original culprit drug or the alternative (32 out of 87, 36.7%), no allergic reactions were reported. In contrast, among the 12 patients with written avoidance of all BLs, subsequent BL intake led to immediate reactions (Grade I and IV) in 2 patients (16.6%). Conclusions: A notable disparity in patient adherence to written instructions prohibiting or releasing beta-lactams was demonstrated. Less than half of the patients ultimately complied with the provided instructions, underscoring the need for tailored patients’ education and strategies to improve adherence in the management of suspected BL allergy. Full article
(This article belongs to the Section Personalized Therapy and Drug Delivery)
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13 pages, 2983 KiB  
Article
Correlation between Topographic Vessel Density and Retinal Thickness Changes in Patients with Diabetic Macular Edema Treated with Anti-VEGF Therapy: Is It a Suitable OCTA Biomarker?
J. Pers. Med. 2023, 13(12), 1718; https://doi.org/10.3390/jpm13121718 - 16 Dec 2023
Viewed by 727
Abstract
The objective of this study was to determine the correlation between topographic vessel density (VD) and retinal thickness (RT) reductions induced by vascular endothelial growth factor inhibitors (anti-VEGF) in patients with diabetic macular edema (DME) using optical coherence tomography angiography (OCTA). This was [...] Read more.
The objective of this study was to determine the correlation between topographic vessel density (VD) and retinal thickness (RT) reductions induced by vascular endothelial growth factor inhibitors (anti-VEGF) in patients with diabetic macular edema (DME) using optical coherence tomography angiography (OCTA). This was a prospective, interventional case series. VD and RT measurements were separately taken in four parafoveal subfields at baseline and after six months of treatment. This correlation was statistically assessed using Spearman’s rho correlation coefficient after adjustment for multiple comparisons. The study included a total of 48 eyes in the final analysis. Mean VD decreased from baseline to month 6 (from 45.2 (±3.5) to 44.6% (±3.2) in the superficial capillary plexus and from 50 (±3.3) to 49% (±3.9) in the deep capillary plexus). Statistically significant reductions in RT were observed in all ETDRS sectors (p < 0.0001). No significant association was found between RT and VD, even when analyzing responders and non-responders separately. After six months of anti-VEGF treatment, no significant correlation was observed between the topographic VD and RT values. These findings suggest that reductions in VD values may not solely result from a reduction in microaneurysms, also being affected by the repositioning of displaced vessels due to edema and a reduction in their caliber. Therefore, VD changes may not be a suitable indirect OCTA biomarker of microaneurysm turnover and treatment response. Full article
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10 pages, 264 KiB  
Article
Influence of Otolaryngological Subspecialties on Perception of Transoral Robotic Surgery: An International YO-IFOS Survey
J. Pers. Med. 2023, 13(12), 1717; https://doi.org/10.3390/jpm13121717 - 15 Dec 2023
Viewed by 763
Abstract
Background: To investigate perception, adoption, and awareness on the part of otolaryngology and head and neck surgeons (OTO-HNS) of transoral robotic surgery (TORS). Methods: Several items assessed: awareness/perception; access to TORS; training; indications and advantages/hurdles to TORS practice. A subanalysis was performed to [...] Read more.
Background: To investigate perception, adoption, and awareness on the part of otolaryngology and head and neck surgeons (OTO-HNS) of transoral robotic surgery (TORS). Methods: Several items assessed: awareness/perception; access to TORS; training; indications and advantages/hurdles to TORS practice. A subanalysis was performed to assess differences according to the identified otolaryngological subspecialties. Results: A total of 359 people completed the survey. Among subspecialties, while for otolaryngologists 30/359 (8.4%) and H&N surgeons 100/359 (27.9%) TORS plays an effective role in hospital stay, laryngologists frequently disagreed (54.3%). There was a lower incidence among rhinologists and otologists (1.9%). Pediatric surgeons (0.8%) reported a positive response regarding the adoption of robotic surgery, and head and neck specialists expressed an even greater response (14.2%). Low adherence was related to perceived cost-prohibitive TORS, by 50% of H&N surgeons. Conclusions: Perception, adoption, and knowledge about TORS play a key role in the application of the robotic system, significantly varying across subspecialties. Full article
(This article belongs to the Section Personalized Therapy and Drug Delivery)
17 pages, 1111 KiB  
Article
Effects of Electromyographic Biofeedback-Assisted Exercise on Functional Recovery and Quality of Life in Patients after Total Hip Arthroplasty: A Randomized Controlled Trial
J. Pers. Med. 2023, 13(12), 1716; https://doi.org/10.3390/jpm13121716 - 15 Dec 2023
Viewed by 793
Abstract
The goal of the trial was to examine the effects of adding electromyographic biofeedback (EMG-BF) to the conventional program of physiotherapy after total hip arthroplasty (THA) on functional recovery and quality of life. The trial was designed as a prospective, interventional, single-blinded randomized [...] Read more.
The goal of the trial was to examine the effects of adding electromyographic biofeedback (EMG-BF) to the conventional program of physiotherapy after total hip arthroplasty (THA) on functional recovery and quality of life. The trial was designed as a prospective, interventional, single-blinded randomized controlled study. Ninety patients were randomized into an experimental group (EG) (n = 45; mean age 63.9 ± 8.8) and control group (CG) (n = 45; mean age 63.9 ± 9). All patients received 21 days of physiotherapy which consisted of therapeutic exercise (land-based and aquatic), electrotherapy, and education. Electromyographic biofeedback was added to a portion of the land-based exercise in EG. The Hip Disability and Osteoarthritis Outcome Score (HOOS), Numeric Rating Scale (NRS), Short Form Health Survey-36 (SF-36), use of a walking aid, 30 s chair stand test (CST) as well as the Timed Up and Go (TUG) test were used for outcome measurement. A higher proportion of the participants in both groups did not need a walking aid after the intervention (p < 0.05). All participants improved their 30 s CST and TUG results (p < 0.001), as well as their NRS and HOOS scores (p < 0.05). No significant differences between the groups were found. There were no additional benefits from adding EMG-BF to the conventional physiotherapy protocol. Full article
(This article belongs to the Special Issue Innovations in Knee and Hip Arthroplasty)
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17 pages, 956 KiB  
Review
Evaluation and Management of Sudden Death Risk in Repaired Tetralogy of Fallot
J. Pers. Med. 2023, 13(12), 1715; https://doi.org/10.3390/jpm13121715 - 15 Dec 2023
Viewed by 743
Abstract
Although substantial progress has been made to prevent sudden cardiac death in repaired tetralogy of Fallot patients, ventricular arrhythmia and sudden death continue to be major causes of morbidity and mortality in these patients. Greater survival in contemporary cohorts has been attributed to [...] Read more.
Although substantial progress has been made to prevent sudden cardiac death in repaired tetralogy of Fallot patients, ventricular arrhythmia and sudden death continue to be major causes of morbidity and mortality in these patients. Greater survival in contemporary cohorts has been attributed to enhanced surgical techniques, more effective management of heart failure, and increased efforts in risk stratification and management of ventricular arrhythmias. More recently, our understanding of predictive risk factors has evolved into personalized risk prediction tools that rely on comprehensive demographic, imaging, functional, and electrophysiological data. However, the universal applicability of these different scoring systems is limited due to differences between study cohorts, types of anatomic repair, imaging modalities, and disease complexity. Noninvasive risk stratification is critical to identify those who may derive benefit from catheter ablation or cardioverter defibrillator implantation for primary prevention. Ultimately, assessment and risk stratification by a multidisciplinary team is crucial to analyze the various complex factors for every individual patient and discuss further options with patients and their families. Full article
(This article belongs to the Special Issue Personalized Diagnosis and Treatment for Congenital Heart Disease)
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19 pages, 1779 KiB  
Article
Unmasking the Silent Threat: Periodontal Health’s Impact on COPD Severity and Hospitalization
J. Pers. Med. 2023, 13(12), 1714; https://doi.org/10.3390/jpm13121714 - 15 Dec 2023
Viewed by 845
Abstract
Objective: This study investigated the relationship between chronic obstructive pulmonary disease (COPD) and periodontitis, focusing on how periodontal health impacts COPD airflow limitation, exacerbations, and hospitalization. Background: Periodontitis, a multifactorial inflammatory disease, is characterized by destruction of tooth-supporting structures, while COPD is a [...] Read more.
Objective: This study investigated the relationship between chronic obstructive pulmonary disease (COPD) and periodontitis, focusing on how periodontal health impacts COPD airflow limitation, exacerbations, and hospitalization. Background: Periodontitis, a multifactorial inflammatory disease, is characterized by destruction of tooth-supporting structures, while COPD is a global pulmonary disorder with high mortality. Methods: A total of 199 COPD patients aged over 40 years underwent lung function tests (spirometry), 6 min walk test, and St George’s Respiratory Questionnaire-COPD (SGRQ-C) to assess lung health. Periodontal indices such as probing depth (PD), clinical attachment loss (CAL), and plaque index (PI) were assessed. Results: We found a significant negative correlation between periodontal disease severity and lung function (lower FEV1, FVC, and FEV1/FVC ratio) after adjusting for smoking. Likewise, periodontal parameters (PPD, PI, and CAL) exhibited negative correlations with lung function. These periodontal indices were independently associated with airflow limitation severity, exacerbations frequency, and prior-year hospitalization. Linear regression indicated that each unit increase in PPD, PI, and CAL corresponded to estimated increases in GOLD airflow limitation grading (0.288, 0.718, and 0.193, respectively) and number of exacerbations (0.115, 0.041, and 0.109, respectively). In logistic regression, PPD, PI, and CAL adjusted odds ratios (ORs) were estimated to increase by 1.29 (95%CI: 1.03–1.62), 3.04 (95%CI: 1.28–7.2), and 1.26 (95%CI: 1.06–1.49), respectively, for hospitalization in previous year. Conclusion: Periodontitis is associated with COPD airflow limitation, exacerbation, and hospitalization, with PI being the most clinically relevant periodontal factor. Dentists and physicians should monitor and increase awareness among COPD patients to maintain oral hygiene for prevention of periodontal diseases and mitigate its effect on COPD progression. Full article
(This article belongs to the Section Regenerative Medicine and Therapeutics)
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14 pages, 2458 KiB  
Article
From Data to Insights: Machine Learning Empowers Prognostic Biomarker Prediction in Autism
J. Pers. Med. 2023, 13(12), 1713; https://doi.org/10.3390/jpm13121713 - 15 Dec 2023
Viewed by 839
Abstract
Autism Spectrum Disorder (ASD) poses significant challenges to society and science due to its impact on communication, social interaction, and repetitive behavior patterns in affected children. The Autism and Developmental Disabilities Monitoring (ADDM) Network continuously monitors ASD prevalence and characteristics. In 2020, ASD [...] Read more.
Autism Spectrum Disorder (ASD) poses significant challenges to society and science due to its impact on communication, social interaction, and repetitive behavior patterns in affected children. The Autism and Developmental Disabilities Monitoring (ADDM) Network continuously monitors ASD prevalence and characteristics. In 2020, ASD prevalence was estimated at 1 in 36 children, with higher rates than previous estimates. This study focuses on ongoing ASD research conducted by Erciyes University. Serum samples from 45 ASD patients and 21 unrelated control participants were analyzed to assess the expression of 372 microRNAs (miRNAs). Six miRNAs (miR-19a-3p, miR-361-5p, miR-3613-3p, miR-150-5p, miR-126-3p, and miR-499a-5p) exhibited significant downregulation in all ASD patients compared to healthy controls. The current study endeavors to identify dependable diagnostic biomarkers for ASD, addressing the pressing need for non-invasive, accurate, and cost-effective diagnostic tools, as current methods are subjective and time-intensive. A pivotal discovery in this study is the potential diagnostic value of miR-126-3p, offering the promise of earlier and more accurate ASD diagnoses, potentially leading to improved intervention outcomes. Leveraging machine learning, such as the K-nearest neighbors (KNN) model, presents a promising avenue for precise ASD diagnosis using miRNA biomarkers. Full article
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13 pages, 5112 KiB  
Case Report
The Arterial Axis Lesions in Proximal Humeral Fractures—Case Report and Literature Review
J. Pers. Med. 2023, 13(12), 1712; https://doi.org/10.3390/jpm13121712 - 14 Dec 2023
Viewed by 748
Abstract
Background: This comprehensive review delves into the nuanced domain of arterial axis lesions associated with proximal humeral fractures, elucidating the intricate interplay between fracture patterns and vascular compromise. Proximal humeral fractures, a common orthopedic occurrence, often present challenges beyond the skeletal realm, necessitating [...] Read more.
Background: This comprehensive review delves into the nuanced domain of arterial axis lesions associated with proximal humeral fractures, elucidating the intricate interplay between fracture patterns and vascular compromise. Proximal humeral fractures, a common orthopedic occurrence, often present challenges beyond the skeletal realm, necessitating a profound understanding of the vascular implications. Methods: The study synthesizes the existing literature, presenting a collective analysis of documented cases and their respective clinical outcomes. The spectrum of arterial axis lesions, from subtle vascular compromise to overt ischemic events, is systematically examined, highlighting the varied clinical manifestations encountered in proximal humeral fractures. Diagnostic modalities, including advanced imaging techniques such as angiography and Doppler ultrasound, are scrutinized for their efficacy in identifying arterial axis lesions promptly. The review emphasizes the critical role of early and accurate diagnosis in mitigating the potential sequelae associated with vascular compromise, thereby underscoring the importance of a vigilant clinical approach. Results: Therapeutic strategies, ranging from conservative management to surgical interventions, are critically evaluated in the context of existing evidence. The evolving landscape of endovascular interventions and their applicability in addressing arterial axis lesions specific to proximal humeral fractures is explored, providing valuable insights for clinicians navigating the therapeutic decision-making process. Furthermore, the review addresses gaps in current knowledge and proposes avenues for future research, emphasizing the need for tailored, evidence-based guidelines in the management of arterial axis lesions in proximal humeral fractures. By consolidating current understanding and pointing towards areas warranting further exploration, this review contributes to the ongoing discourse surrounding the intricacies of vascular complications in orthopedic trauma. Conclusions: this comprehensive review provides a synthesized overview of arterial axis lesions in proximal humeral fractures, offering a valuable resource for clinicians, researchers, and educators alike. The findings underscore the multifaceted nature of these lesions and advocate for a holistic, patient-centered approach to their management. Full article
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10 pages, 1122 KiB  
Case Report
VRAM Flap for Pelvic Floor Reconstruction after Pelvic Exenteration and Abdominoperineal Excision
J. Pers. Med. 2023, 13(12), 1711; https://doi.org/10.3390/jpm13121711 - 14 Dec 2023
Viewed by 878
Abstract
Due to the still large number of patients diagnosed with pelvic neoplasms (colorectal, gynecological, and urological) in advanced stages right from the initial diagnosis, surgery represents the mainstay of treatment, often implying wide, eventually multi-organ resections in order to achieve negative surgical margins. [...] Read more.
Due to the still large number of patients diagnosed with pelvic neoplasms (colorectal, gynecological, and urological) in advanced stages right from the initial diagnosis, surgery represents the mainstay of treatment, often implying wide, eventually multi-organ resections in order to achieve negative surgical margins. Perineal wound morbidity, particularly in extralevator abominoperineal excision, leads to complications and local infection rates of up to 40%. Strategies to reduce postoperative wound complications are being pursued to address this issue. The VRAM flap remains the gold standard for autologous reconstruction after pelvic oncological resection; it was initially designed for abdominal wall defects and later expanded for large pelvic tissue defects. The flap’s application is based on its physical characteristics, including abundant tissue and a generous skin paddle, which effectively obliterates dead space after exenterations. The generous skin paddle offers good cosmetic and functional outcomes at the recipient site. This article describes the case of a patient histopathologically diagnosed with stage IIIA squamous cell carcinoma of the uterine cervix who received multimodal onco-surgical treatment. The surgical mainstay of this treatment is pelvic exenteration. Pelvic reconstruction after this major surgery was performed using a vertical flap with the rectus abdominis. Full article
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15 pages, 1619 KiB  
Article
Biomarkers and Strain Echocardiography for the Detection of Subclinical Cardiotoxicity in Breast Cancer Patients Receiving Anthracyclines
J. Pers. Med. 2023, 13(12), 1710; https://doi.org/10.3390/jpm13121710 - 14 Dec 2023
Viewed by 858
Abstract
The optimal surveillance and management strategies for breast cancer patients receiving anthracycline therapy are limited by our incomplete understanding of the role of biomarkers heralding the onset of cardiotoxicity. The purpose of this study was to determine whether there is a temporal correlation [...] Read more.
The optimal surveillance and management strategies for breast cancer patients receiving anthracycline therapy are limited by our incomplete understanding of the role of biomarkers heralding the onset of cardiotoxicity. The purpose of this study was to determine whether there is a temporal correlation between cardiac biomarkers and subclinical left ventricular dysfunction in breast cancer patients receiving anthracycline chemotherapy. Thirty-one females between 46 and 55 years old with breast cancer treated with anthracycline chemotherapy were prospectively enrolled. Cardiac biomarkers were correlated with echocardiography with speckle tracking at baseline, post-anthracycline therapy, and 6 months post-anthracycline chemotherapy. Subclinical cardiotoxicity was defined as 10% reduction in global longitudinal strain (GLS). There was a relative reduction in left ventricular ejection fraction (LVEF) 10% in 5/30 (17%) and 7/27 (26%) patients post-anthracycline therapy and 6 months post-anthracycline therapy, respectively. Subclinical cardiotoxicity was noted in 8/30 (27%) and 10/26 (38%) patients post-anthracycline and 6 months post-anthracycline therapy, respectively. Baseline N-terminal pro B-type natriuretic peptide (NT-proBNP) was the strongest predictor of LVEF (ρ = −0.45; p = 0.019), with post-therapy NT-proBNP values illustrating similar predictive value (ρ = −0.40; p = 0.038). Interim changes in suppression of tumorigenicity 2 (ST2) and galectin-3 correlated with a 6-month change in LVEF (ρ = −0.48; p = 0.012 and ρ = −0.45; p = 0.018, for ST2 and galectin-3, respectively). Changes in galectin-3 from baseline to mid-therapy paralleled changes in GLS. NT-proBNP, ST2, and galectin-3 correlate with reduced LVEF among breast cancer patients receiving anthracycline therapy. Additional trials focusing on a cardiac biomarker approach may provide guidance in the early diagnosis and management of anthracycline-induced cardiotoxicity. Full article
(This article belongs to the Section Disease Biomarker)
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18 pages, 4062 KiB  
Article
A New Approach to Virtual Occlusion in Orthognathic Surgery Planning Using Mixed Reality—A Technical Note and Review of the Literature
J. Pers. Med. 2023, 13(12), 1709; https://doi.org/10.3390/jpm13121709 - 14 Dec 2023
Viewed by 695
Abstract
Orthognathic surgery plays a vital role in correcting various skeletal discrepancies of the maxillofacial region. Achieving optimal occlusion is a fundamental aspect of orthognathic surgery planning, as it directly influences postoperative outcomes and patient satisfaction. Traditional methods for setting final occlusion involve the [...] Read more.
Orthognathic surgery plays a vital role in correcting various skeletal discrepancies of the maxillofacial region. Achieving optimal occlusion is a fundamental aspect of orthognathic surgery planning, as it directly influences postoperative outcomes and patient satisfaction. Traditional methods for setting final occlusion involve the use of dental casts which are time-consuming, prone to errors and cannot be easily shared among collaborating specialties. In recent years, advancements in digital technology have introduced innovative approaches, such as virtual occlusion, which may offer enhanced accuracy and efficiency in orthognathic surgery planning. Furthermore, the emergence of mixed reality devices and their 3D visualization capabilities have brought about novel benefits in the medical field, particularly in computer-assisted planning. This paper presents for the first time a prototype tool for setting virtual occlusion during orthognathic surgery planning using mixed reality technology. A complete walkthrough of the workflow is presented including an explanation of the implicit advantages of this novel tool. The new approach to defining virtual occlusion is set into context with other published methods of virtual occlusion setting, discussing advantages and limitations as well as concepts of surgical occlusion for orthognathic surgery. Full article
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10 pages, 2604 KiB  
Case Report
Cochlear Implantation in Patients with Bilateral Sudden Sensorineural Hearing Loss after COVID-19 Infection
J. Pers. Med. 2023, 13(12), 1708; https://doi.org/10.3390/jpm13121708 - 14 Dec 2023
Viewed by 732
Abstract
COVID-19 infection is associated with a variety of neurological manifestations. Since the inner ear is vulnerable to viruses, sensorineural hearing loss (SNHL) has been reported to occur following SARS-CoV-2 infection. We present here two cases of profound SNHL following SARS-CoV-2 infection. Pure-tone audiograms [...] Read more.
COVID-19 infection is associated with a variety of neurological manifestations. Since the inner ear is vulnerable to viruses, sensorineural hearing loss (SNHL) has been reported to occur following SARS-CoV-2 infection. We present here two cases of profound SNHL following SARS-CoV-2 infection. Pure-tone audiograms confirmed profound SNHL. The tympanogram and Auditory Brainstem Responses showed no abnormal symptoms. MRIs and CTs identified some changes but no significant anatomical nor physiological manifestations explaining the obvious cause for hearing loss. High doses of oral corticosteroids with additional conservative therapy were given with no therapeutic response, and therefore, cochlear implant surgery was performed. One case was bilaterally treated, and the other one received an implantation on one side. Both surgeries were carried out without intra- nor postoperative complications. Interestingly, in both cases, advanced fibrotic tissue was found during surgery. Both cases reported successful rehabilitation and are satisfied with their new sound perception following cochlear implantation. Full article
(This article belongs to the Special Issue Personalized Medicine in Otolaryngology: Special Topic Otology)
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13 pages, 1758 KiB  
Article
An Assessment of the Knowledge and Perceptions of Precision Medicine (PM) in the Rwandan Healthcare Setting
J. Pers. Med. 2023, 13(12), 1707; https://doi.org/10.3390/jpm13121707 - 14 Dec 2023
Viewed by 876
Abstract
Introduction: Precision medicine (PM) or personalized medicine is an innovative approach that aims to tailor disease prevention and treatment to consider the differences in people’s genes, environments, and lifestyles. Although many efforts have been made to accelerate the universal adoption of PM, several [...] Read more.
Introduction: Precision medicine (PM) or personalized medicine is an innovative approach that aims to tailor disease prevention and treatment to consider the differences in people’s genes, environments, and lifestyles. Although many efforts have been made to accelerate the universal adoption of PM, several challenges need to be addressed in order to advance PM in Africa. Therefore, our study aimed to establish baseline data on the knowledge and perceptions of the implementation of PM in the Rwandan healthcare setting. Method: A descriptive qualitative study was conducted in five hospitals offering diagnostics and oncology services to cancer patients in Rwanda. To understand the existing policies regarding PM implementation in the country, two additional institutions were surveyed: the Ministry of Health (MOH), which creates and sets policies for the overall vision of the health sector, and the Rwanda Biomedical Center (RBC), which coordinates the implementation of health sector policies in the country. The researchers conducted 32 key informant interviews and assessed the functionality of available PM equipment in the 5 selected health facilities. The data were thematically categorized and analyzed. Results: The study revealed that PM is perceived as a complex and expensive program by most health managers and health providers. The most cited challenges to implementing PM included the following: the lack of policies and guidelines; the lack of supportive infrastructures and limited suppliers of required equipment and laboratory consumables; financial constraints; cultural, behavioral, and religious beliefs; and limited trained, motivated, and specialized healthcare providers. Regarding access to health services for cancer treatment, patients with health insurance pay 10% of their medical costs, which is still too expensive for Rwandans. Conclusion: The study participants highlighted the importance of PM to enhance healthcare delivery if the identified barriers are addressed. For instance, Rwandan health sector leadership might consider the creation of specialized oncology centers in all or some referral hospitals with all the necessary genomic equipment and trained staff to serve the needs of the country and implement a PM program. Full article
(This article belongs to the Section Clinical Medicine, Cell, and Organism Physiology)
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15 pages, 336 KiB  
Review
Adverse Drug Events after Kidney Transplantation
J. Pers. Med. 2023, 13(12), 1706; https://doi.org/10.3390/jpm13121706 - 14 Dec 2023
Viewed by 962
Abstract
Introduction: Kidney transplantation stands out as the optimal treatment for patients with end-stage kidney disease, provided they meet specific criteria for a secure outcome. With the exception of identical twin donor–recipient pairs, lifelong immunosuppression becomes imperative. Unfortunately, immunosuppressant drugs, particularly calcineurin inhibitors like [...] Read more.
Introduction: Kidney transplantation stands out as the optimal treatment for patients with end-stage kidney disease, provided they meet specific criteria for a secure outcome. With the exception of identical twin donor–recipient pairs, lifelong immunosuppression becomes imperative. Unfortunately, immunosuppressant drugs, particularly calcineurin inhibitors like tacrolimus, bring about adverse effects, including nephrotoxicity, diabetes mellitus, hypertension, infections, malignancy, leukopenia, anemia, thrombocytopenia, mouth ulcers, dyslipidemia, and wound complications. Since achieving tolerance is not feasible, patients are compelled to adhere to lifelong immunosuppressive therapies, often involving calcineurin inhibitors, alongside mycophenolic acid or mTOR inhibitors, with or without steroids. Area covered: Notably, these drugs, especially calcineurin inhibitors, possess narrow therapeutic windows, resulting in numerous drug-related side effects. This review focuses on the prevalent immunosuppressive drug-related side effects encountered in kidney transplant recipients, namely nephrotoxicity, post-transplant diabetes mellitus, leukopenia, anemia, dyslipidemia, mouth ulcers, hypertension, and viral reactivations (cytomegalovirus and BK virus). Additionally, other post-kidney-transplantation drugs such as valganciclovir may also contribute to adverse events such as leukopenia. For each side effect, we propose preventive measures and outline appropriate treatment strategies. Full article
(This article belongs to the Section Clinical Medicine, Cell, and Organism Physiology)
14 pages, 3339 KiB  
Review
Total Knee Arthroplasty in Patients with Ipsilateral Hip Fusion: Technical Notes and Literature Review
J. Pers. Med. 2023, 13(12), 1705; https://doi.org/10.3390/jpm13121705 - 13 Dec 2023
Viewed by 691
Abstract
Numerous studies report the success and outcomes of the total knee arthroplasty (TKA); however, few papers present patients with knee osteoarthritis and ipsilateral hip fusion. One controversy when treating patients requiring a TKA with prior ipsilateral hip fusion is whether to first perform [...] Read more.
Numerous studies report the success and outcomes of the total knee arthroplasty (TKA); however, few papers present patients with knee osteoarthritis and ipsilateral hip fusion. One controversy when treating patients requiring a TKA with prior ipsilateral hip fusion is whether to first perform a total hip arthroplasty (THA) of the fused hip, followed by the ipsilateral TKA, or to proceed with the TKA without replacing the hip; studies suggest that the position of the fused hip is a key factor when making this therapeutical decision. In addition, performing a TKA in patients with an ipsilateral fused hip may require modifications to the surgical technique generated by the lack of joint mobility in the hip. We identified 12 studies encompassing 30 patients with hip fusion and ipsilateral TKA in current orthopedic literature, but only six offered insights on patient positioning on the operating table during surgery. This study aims to review the current literature on patients with knee osteoarthritis and prior ipsilateral hip fusion and to present some technical considerations when performing a TKA on a 75-year-old patient with hip ankylosis who underwent a total ipsilateral knee arthroplasty in our clinic. Full article
(This article belongs to the Special Issue Personalized Management in Orthopedics and Traumatology)
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10 pages, 2482 KiB  
Article
Chronological Changes in Sagittal Femoral Bowing after Primary Cementless Total Hip Arthroplasty: A Comparative 3D CT Study
J. Pers. Med. 2023, 13(12), 1704; https://doi.org/10.3390/jpm13121704 - 13 Dec 2023
Viewed by 624
Abstract
Little is known about dynamic changes of femoral anatomy after total hip arthroplasty (THA), in particular about sagittal femoral bowing (SFB). A 3D CT study was designed to evaluate the chronological changes of SFB after cementless femoral stem implantation for primary THA. Ten [...] Read more.
Little is known about dynamic changes of femoral anatomy after total hip arthroplasty (THA), in particular about sagittal femoral bowing (SFB). A 3D CT study was designed to evaluate the chronological changes of SFB after cementless femoral stem implantation for primary THA. Ten patients who underwent unilateral primary THA with a cementless femoral stem, with 2 consecutive CT scans (extending from the fourth lumbar vertebra to the tibial plateaus), performed before THA and at least 3 years after THA, were enrolled. The 3D models of femurs were created using image segmentation software. Using the two CT scans, SFB values of the proximal and middle thirds were calculated on the replaced and untreated sides by two different observers. Eight anatomical stems and two conical stems were involved. The post-operative CT was performed at an average follow-up of 6.5 years after THA (range: 3–12.5). The measurements performed by the two observers did not differ in the proximal and middle regions. A significant difference between the pre-operative and post-operative SFB compared to the untreated side was found in the proximal femur segment (p = 0.004). Use of a cementless stem in THA induced chronological changes in SFB of the proximal femur, after a minimum timespan of 3 years. Full article
(This article belongs to the Special Issue New Trends for Arthroplasty in Personalized Treatment)
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54 pages, 7310 KiB  
Review
Survey of Transfer Learning Approaches in the Machine Learning of Digital Health Sensing Data
J. Pers. Med. 2023, 13(12), 1703; https://doi.org/10.3390/jpm13121703 - 12 Dec 2023
Cited by 1 | Viewed by 1123
Abstract
Machine learning and digital health sensing data have led to numerous research achievements aimed at improving digital health technology. However, using machine learning in digital health poses challenges related to data availability, such as incomplete, unstructured, and fragmented data, as well as issues [...] Read more.
Machine learning and digital health sensing data have led to numerous research achievements aimed at improving digital health technology. However, using machine learning in digital health poses challenges related to data availability, such as incomplete, unstructured, and fragmented data, as well as issues related to data privacy, security, and data format standardization. Furthermore, there is a risk of bias and discrimination in machine learning models. Thus, developing an accurate prediction model from scratch can be an expensive and complicated task that often requires extensive experiments and complex computations. Transfer learning methods have emerged as a feasible solution to address these issues by transferring knowledge from a previously trained task to develop high-performance prediction models for a new task. This survey paper provides a comprehensive study of the effectiveness of transfer learning for digital health applications to enhance the accuracy and efficiency of diagnoses and prognoses, as well as to improve healthcare services. The first part of this survey paper presents and discusses the most common digital health sensing technologies as valuable data resources for machine learning applications, including transfer learning. The second part discusses the meaning of transfer learning, clarifying the categories and types of knowledge transfer. It also explains transfer learning methods and strategies, and their role in addressing the challenges in developing accurate machine learning models, specifically on digital health sensing data. These methods include feature extraction, fine-tuning, domain adaptation, multitask learning, federated learning, and few-/single-/zero-shot learning. This survey paper highlights the key features of each transfer learning method and strategy, and discusses the limitations and challenges of using transfer learning for digital health applications. Overall, this paper is a comprehensive survey of transfer learning methods on digital health sensing data which aims to inspire researchers to gain knowledge of transfer learning approaches and their applications in digital health, enhance the current transfer learning approaches in digital health, develop new transfer learning strategies to overcome the current limitations, and apply them to a variety of digital health technologies. Full article
(This article belongs to the Section Methodology, Drug and Device Discovery)
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11 pages, 1671 KiB  
Article
Guided Genioplasty: Comparison between Conventional Technique and Customized Guided Surgery
J. Pers. Med. 2023, 13(12), 1702; https://doi.org/10.3390/jpm13121702 - 12 Dec 2023
Viewed by 783
Abstract
Background: Genioplasty as an isolated surgical technique is a highly demanded procedure in the maxillofacial surgery area. Advances in facial reconstructive surgery have been associated with less morbidity and more predictable results. In this paper, “conventional” genioplasty and genioplasty by means of virtual [...] Read more.
Background: Genioplasty as an isolated surgical technique is a highly demanded procedure in the maxillofacial surgery area. Advances in facial reconstructive surgery have been associated with less morbidity and more predictable results. In this paper, “conventional” genioplasty and genioplasty by means of virtual surgical planning (VSP), CAD-CAM cutting guides, and patient custom-made plates are compared. Methods: A descriptive observational study was designed and implemented, and 43 patients were treated, differentiating two groups according to the technique: 18 patients were treated by conventional surgery, and 25 patients were treated through virtual surgical planning (VSP), CAD-CAM cutting guides, STL models, and titanium patient-specific plates. Results: The operation time ranged from 35 to 107 min. The mean operative time in the conventional group was 60.06 + 3.74 min.; in the custom treatment group it was 42.24 + 1.29 min (p < 0.001). The difference between planned and obtained chin changes in cases of advancement or retrusion was not statistically significant (p = 0.125; p = 0.216). In cases of chin rotation due to asymmetry, guided and personalized surgery was superior to conventional surgery (p < 0.01). The mean hospital stay was equal in both groups. A decrease in surgical complications was observed in the group undergoing VSP and customized treatment. Conclusions: Multi-stage implementation of VSP with CAD-CAM cutting guides, STL models, and patient-specific plates increased the accuracy of the genioplasty surgery, particularly in cases of chin asymmetry, reducing operation time and potential complications. Full article
(This article belongs to the Special Issue New Updates in Oral and Maxillofacial Surgery)
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11 pages, 1514 KiB  
Article
Time to Deliver on Promises: The Role of ERBB2 Alterations as Treatment Options for Colorectal Cancer Patients in the Era of Precision Oncology
J. Pers. Med. 2023, 13(12), 1701; https://doi.org/10.3390/jpm13121701 - 12 Dec 2023
Viewed by 896
Abstract
Receptor tyrosine kinase erythroblastic oncogene B2 (ERBB2), also known as human epidermal growth factor receptor 2 (HER2), represents an oncogenic driver and has been effectively targeted in breast and gastric cancer. Recently, next-generation sequencing (NGS) discovered ERBB2 as a [...] Read more.
Receptor tyrosine kinase erythroblastic oncogene B2 (ERBB2), also known as human epidermal growth factor receptor 2 (HER2), represents an oncogenic driver and has been effectively targeted in breast and gastric cancer. Recently, next-generation sequencing (NGS) discovered ERBB2 as a promising therapeutic target in metastatic colorectal cancer (mCRC), where it is altered in 3–5% of patients, but no therapies are currently approved for this use. Herein, we present the experience of a single center in diagnosing actionable genetic ERBB2 alterations using NGS and utilizing the latest therapeutic options. Between October 2019 and December 2022, a total of 107 patients with advanced CRC underwent molecular analysis, revealing actionable ERBB2 mutations in two patients and ERBB2 amplifications in two other patients. These findings correlated with immunohistochemical (IHC) staining. Of these four patients, two were treated with trastuzumab-deruxtecan (T-DXd). We present two exemplary cases of patients with actionable ERBB2 alterations to demonstrate the effectiveness of T-DXd in heavily pretreated ERBB2-positive mCRC patients and the need for early molecular profiling. To fully exploit the potential of this promising treatment, earlier molecular profiling and the initiation of targeted therapies are essential. Full article
(This article belongs to the Special Issue Genetics, Genomics, and Precision Medicine in Colorectal Cancer)
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10 pages, 699 KiB  
Article
Evaluation of the Acid–Base Status in Patients Admitted to the ICU Due to Severe COVID-19: Physicochemical versus Traditional Approaches
J. Pers. Med. 2023, 13(12), 1700; https://doi.org/10.3390/jpm13121700 - 11 Dec 2023
Viewed by 781
Abstract
Background: Stewart’s approach is known to have better diagnostic accuracy for the identification of metabolic acid–base disturbances compared to traditional methods based either on plasma bicarbonate concentration ([HCO3]) and anion gap (AG) or on base excess/deficit (BE). This study aimed [...] Read more.
Background: Stewart’s approach is known to have better diagnostic accuracy for the identification of metabolic acid–base disturbances compared to traditional methods based either on plasma bicarbonate concentration ([HCO3]) and anion gap (AG) or on base excess/deficit (BE). This study aimed to identify metabolic acid–base disorders using either Stewart’s or traditional approaches in critically ill COVID-19 patients admitted to the ICU, to recognize potential hidden acid–base metabolic abnormalities and to assess the prognostic value of these abnormalities for patient outcome. Methods: This was a single-center retrospective study, in which we collected data from patients with severe COVID-19 admitted to the ICU. Electronical files were used to retrieve data for arterial blood gases, serum electrolytes, and proteins and to derive [HCO3], BE, anion gap (AG), AG adjusted for albumin (AGadj), strong ion difference, strong ion gap (SIG), and SIG corrected for water excess/deficit (SIGcorr). The acid–base status was evaluated in each patient using the BE, [HCO3], and physicochemical approaches. Results: We included 185 patients. The physicochemical approach detected more individuals with metabolic acid–base abnormalities than the BE and [HCO3] approaches (p < 0.001), and at least one acid–base disorder was recognized in most patients. According to the physicochemical method, 170/185 patients (91.4%) had at least one disorder, as opposed to the number of patients identified using the BE 90/186 (48%) and HCO3 62/186 (33%) methods. Regarding the derived acid–base status variables, non-survivors had greater AGadj, (p = 0.013) and SIGcorr (p = 0.035) compared to survivors. Conclusions: The identification of hidden acid–base disturbances may provide a detailed understanding of the underlying conditions in patients and of the possible pathophysiological mechanisms implicated. The association of these acid–base abnormalities with mortality provides the opportunity to recognize patients at increased risk of death and support them accordingly. Full article
(This article belongs to the Special Issue Respiratory and Emergency Medicine)
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17 pages, 820 KiB  
Review
A Review of the Lidocaine in the Perioperative Period
J. Pers. Med. 2023, 13(12), 1699; https://doi.org/10.3390/jpm13121699 - 11 Dec 2023
Viewed by 1572
Abstract
This review analyzes the controversies surrounding lidocaine (LIDO), a widely recognized local anesthetic, by exploring its multifaceted effects on pain control in the perioperative setting. The article critically analyzes debates about lidocaine’s efficacy, safety, and optimal administration methods. While acknowledging its well-documented analgesic [...] Read more.
This review analyzes the controversies surrounding lidocaine (LIDO), a widely recognized local anesthetic, by exploring its multifaceted effects on pain control in the perioperative setting. The article critically analyzes debates about lidocaine’s efficacy, safety, and optimal administration methods. While acknowledging its well-documented analgesic attributes, the text highlights the ongoing controversies in its application. The goal is to provide clinicians with a comprehensive understanding of the current discourse, enabling informed decisions about incorporating lidocaine into perioperative protocols. On the other hand, emphasizes the common uses of lidocaine and its potential role in personalized medicine. It discusses the medication’s versatility, including its application in anesthesia, chronic pain, and cardiovascular diseases. The text recognizes lidocaine’s widespread use in medical practice and its ability to be combined with other drugs, showcasing its adaptability for individualized treatments. Additionally, it explores the incorporation of lidocaine into hyaluronic acid injections and its impact on pharmacokinetics, signaling innovative approaches. The discussion centers on how lidocaine, within the realm of personalized medicine, can offer safer and more comfortable experiences for patients through tailored treatments. Full article
(This article belongs to the Section Mechanisms of Diseases)
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10 pages, 1793 KiB  
Case Report
REAC Reparative Treatment: A Promising Therapeutic Option for Alcoholic Cirrhosis of the Liver
J. Pers. Med. 2023, 13(12), 1698; https://doi.org/10.3390/jpm13121698 - 10 Dec 2023
Viewed by 1073
Abstract
Alcoholic liver disease (ALD) is a significant global health concern associated with excessive alcohol consumption. ALD encompasses various liver conditions with complex pathogenesis and progression influenced by environmental, genetic, and epigenetic factors. Alcoholic cirrhosis of the liver (ALC) is particularly prevalent among socially [...] Read more.
Alcoholic liver disease (ALD) is a significant global health concern associated with excessive alcohol consumption. ALD encompasses various liver conditions with complex pathogenesis and progression influenced by environmental, genetic, and epigenetic factors. Alcoholic cirrhosis of the liver (ALC) is particularly prevalent among socially disadvantaged individuals, and current pharmacotherapy options provide limited treatment. This study aims to explore the potential benefits of radio electric asymmetric conveyer (REAC) technology and its tissue optimization reparative treatment (TO-RPR) in managing ALC. The liver possesses remarkable regenerative capabilities closely tied to its bioelectrical properties. REAC TO-RPR is a novel biotechnological therapeutic approach that aims to enhance and expedite reparative processes in injured tissues by restoring disrupted cellular endogenous bioelectric fields. This study seeks to optimize understanding of REAC TO-RPR’s impact on liver function and clinical outcomes in ALC patients. By investigating the mechanisms underlying liver’s reparative abilities and evaluating the efficacy of REAC TO-RPR, this research aims to address the urgent need for improved interventions in managing ALC. The findings hold potential for developing innovative treatment approaches, improving patient outcomes, and reducing the societal and individual burden associated with ALC. Full article
(This article belongs to the Section Epigenetic Therapy)
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12 pages, 1507 KiB  
Article
Transcriptomic Analysis of Tight Junction Proteins Demonstrates the Aberrant Expression and Function of Zona Occludens 2 (ZO-2) Protein in Stanford Type A Aortic Dissection
J. Pers. Med. 2023, 13(12), 1697; https://doi.org/10.3390/jpm13121697 - 09 Dec 2023
Viewed by 724
Abstract
Objective: Thoracic aortic aneurysm dissection (TAAD) represents a cardiac surgery emergency characterized by the disrupted integrity of the aortic wall and is associated with poor prognosis. In this context, the identification of biomarkers implicated in the pathobiology of TAAD is crucial. Our aim [...] Read more.
Objective: Thoracic aortic aneurysm dissection (TAAD) represents a cardiac surgery emergency characterized by the disrupted integrity of the aortic wall and is associated with poor prognosis. In this context, the identification of biomarkers implicated in the pathobiology of TAAD is crucial. Our aim in the present original in silico study is to assess the differential gene expression profile of the tight junction proteins (TJPs) in patients with TAAD and to propose novel biomarkers for the diagnosis and prognosis of this disease. Methods: We implemented bioinformatics methodology in order to construct the gene network of the TJPs family, identify the differentially expressed genes (DEGs) in pathologic aortic tissue excised from patients with TAAD as compared to healthy aortic tissue, and assess the related biological functions and the associated miRNA families. Results: Data regarding the transcriptomic profile of selected genes were retrieved and incorporated from three microarray datasets, including 23 TAAD and 20 healthy control samples. A total of 32 TJPs were assessed. The zona occludens 2 (ZO-2) protein encoded by the gene TJP2 was significantly under-expressed in patients with TAAD compared to the control group (p = 0.009). ZO-2 was associated with fair discrimination and calibration traits in predicting the TAAD presentation. CpG islands of ZO-2 were demonstrated. No important difference was found regarding ZO-2 expression between aneurysmal non-dissected and healthy control aortic tissue. Finally, we performed gene set enrichment analysis (GSEA) and uncovered the major biological functions and miRNA families (hsa-miR-155-5p, hsa-miR-1-3p, hsa-miR-2118-5p, hsa-miR-4691-3p, and hsa-miR-1229-3p) relevant to ZO-2. Conclusions: These outcomes demonstrated the important role of ZO-2 in the pathobiology of TAAD. Full article
(This article belongs to the Special Issue Precision and Targeted Therapy in Cardiac Surgery)
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