Journal of Personalized Medicine最新文献

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.

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.

In the original publication [...].

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.

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.

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.

Introduction: Total laryngectomy is used to cure advanced larynx cancer in many patients. The removal of the larynx requires the rehabilitation of the patient's ability to communicate, and one common method is to place a tracheoesophageal voice prosthesis (TEP) as a secondary procedure after the patient has completed cancer treatment. The traditional technique utilizes a rigid esophagoscope for access, but this can prove difficult in many patients who have kyphosis, scarring of the neck, or trismus. We describe a technique to allow TEP placement in these challenging patients that does not utilize rigid esophagoscopy to access the tracheoesophageal puncture site. Methods: For more than 15 years, the senior authors of this study have used this technique in patients in whom traditional methods of TEP with rigid esophagoscope were unsuccessful or not attempted due to the anticipated high probability of failure. The ease of this technique has prompted its use for all patients undergoing secondary TEP placement in their practice. The technique is described in detail in the Methods section below. Results: The described method has been successfully utilized to place TEPs in many patients with challenging anatomy. There have been no failed placements, including a patient with severe trismus who was able to have a TEP placed by placing the chest tube and flexible endoscope transnasally. Further, because of precise visualization and ease of the technique, there have been no observed complications of injury to the pharyngoesophageal lumen or creation of a false passage. Conclusion: The use of a chest tube and flexible scope allows for the protection of the pharyngoesophageal lumen, precise visualization and placement of the puncture, and avoidance of a false tracheoesophageal passage, all while minimizing the need for extension of the patient's neck. This has proven ideal for patients suffering the consequences of cancer treatment such as cervical scarring, fibrosis, kyphosis, and trismus.

Background: This study evaluated the effectiveness of radio electric asymmetric conveyer (REAC) neurobiological optimization treatments on muscle strength (MS) in individuals with post-polio syndrome (PPS), a condition causing new muscle weakness in polio survivors. Traditional treatments focus on symptom management, whereas REAC technology uses radio electric symmetric conveyed fields to modulate neurotransmission and cellular function. Methods: This open-label study involved 17 PPS patients who maintained their existing medications. The participants underwent four REAC treatment protocols: neuro-postural optimization (NPO), neuro-psycho-physical optimization (NPPO), neuro-psycho-physical optimization-cervical brachial (NPPO-CB), and neuromuscular optimization (NMO). MS was assessed using manual muscular tests (MMT) before and after each protocol. Results: A statistical analysis via repeated measures ANOVA showed significant MS improvements, particularly in the proximal muscles of the left lower limb (LLL), distal muscles of both lower limbs (LLs), and distal muscles of the left upper limb. The LLL, the most severely affected limb at this study's start, exhibited the greatest improvement. Conclusions: These results suggest REAC treatments could enhance MS in PPS patients, potentially reorganizing motor patterns and reducing functional overload on less affected limbs.

Objectives: The aim of this paper is to describe our experience in the embolization of hypervascular giant thoracic tumors before surgical excision. Methods: A single-center retrospective review of five trans-arterial preoperative embolization procedures executed between October 2020 and July 2024. Patients' demographics, anatomical aspects, feasibility, technique, and outcomes were reviewed. Results: In all cases, accurate targeting and safe embolization was achieved, with satisfactory devascularization evaluated with post-procedural angiography and with minimal blood loss during subsequent surgical operation. Conclusions: In our experience, preoperative embolization of giant thoracic masses has been technically feasible, safe, and effective in reducing tumor vascularization, thus facilitating surgical treatment. This approach should be evaluated as an option, especially in patients with hypervascular thoracic tumors.

Objectives: This study investigates the feasibility of implementing telescreening for retinopathy of prematurity (ROP) using the ICON GO^® widefield camera operated by a non-physician healthcare professional (NPHP). We hypothesized that images captured by an NPHP are adequate to evaluate ROP changes without further examinations. Secondly, the level of agreement between independent ROP graders were evaluated based on the fundus photographs. Methods: National ROP screening criteria were gestational age (GA) < 32 weeks or birthweight (BW) < 1500 g. Exclusion criteria were children hospitalized and born outside the Capital Region and examinations not performed by an NPHP. The screenings were performed using the ICON GO^®. The NPHP selected the best images for evaluation by an on-site ophthalmologist, regarding whether re-examination was necessary and if so, whether the re-examination was beneficial. Lastly, the images were re-evaluated by an independent off-site ophthalmologist. Results: A total of 415 screening sessions on 165 patients performed by an NPHP were included. Re-examination was necessary in three screening sessions and beneficial in two. The level of agreement between the on-site and off-site ophthalmologists regarding ROP screening outcome was k = 0.82, ROP stage k = 0.69, plus disease k = 0.69, and lastly ROP zone k = 0.37. Of the screened children, ninety-seven (58.8%) had no ROP at any time points, sixty-two (37.6%) had some stage of ROP not requiring treatment, and six (3.6%) received ROP treatment. Conclusions: Telemedicine screening for ROP with the ICON GO^® camera performed by an NPHP was feasible with an almost-perfect agreement and negligible need for re-examinations. The approach effectively identified children needing treatment, supporting the use of telescreening in ROP management.