Journal of Personalized Medicine最新文献

Purpose: To evaluate the potential association between endothelial glycocalyx damage, as well as arterial stiffness, and the retinal changes on optical coherence tomography (OCT) and OCT-angiography (OCT-A) in patients with type 2 diabetes mellitus (DM).

Methods: Participants in this cross-sectional study were 65 patients with DM type 2 and 42 age- and gender-matched controls without DM. The demographic and clinical characteristics of the participants were recorded. All patients underwent a thorough ophthalmological examination and multimodal imaging, including fundus photography, OCT, and OCT-A. In addition, evaluation of the endothelial glycocalyx thickness by measuring the perfused boundary region (PBR5-25) of the sublingual microvessel, as well as of the arterial stiffness, by measuring the carotid-femoral pulse wave velocity (PWV), the central aortic pressures and the augmentation index (Aix) was performed. Univariate and multivariate logistic regression analysis was performed for the examination of the potential association between the eye imaging variables and the cardiovascular-related variables. The odds ratios (OR) with the respective 95% confidence intervals (CI) were calculated. A p-value < 0.05 was considered statistically significant.

Results: Patients with DM presented significantly higher PBR5-25 compared to controls without DM (p = 0.023). At the univariate analysis, increased PBR5-25 (≥2.19 μm vs. <2.19 μm) was associated with decreased peripapillary VD at the superior quadrant (univariate OR (95% CI) = 0.34 (0.12-0.93), p = 0.037). Multivariate logistic regression analysis showed that increased PWV (≥13.7 m/s vs. <13.7 m/s) was associated with an increased foveal avascular zone (FAZ) area on OCT-A (p = 0.044) and increased FAZ perimeter (p = 0.048). Moreover, increased Aix (≥14.745% vs. <14.745%) was associated with diabetic macular edema (DME) presence (p = 0.050) and increased perifoveal and parafoveal superior and temporal thickness on OCT (p < 0.05 for all associations).

Conclusions: Markers of endothelial damage and arterial stiffness were associated with structural and microvascular retinal alterations in patients with DM, pointing out that OCT-A could be a useful biomarker for detecting potential cardiovascular risk in such patients.

High-density lipoprotein (HDL) cholesterol is traditionally viewed as protective against cardiovascular disease (CVD). However, emerging evidence reveals that dysfunctional HDL, characterized by impaired reverse cholesterol transport (RCT), reduced anti-inflammatory and antioxidant activities and increased endothelial dysfunction, which can contribute to coronary artery disease (CAD). Dysfunctional HDL, resulting from oxidative modifications of Apolipoprotein A-1 (Apo A-1) and enzyme inactivation, fails to effectively remove cholesterol from peripheral tissues and may promote inflammation and atherosclerosis. Genetic mutations affecting HDL metabolism further complicate its role in cardiovascular health. Studies have shown that conventional therapies aimed at raising HDL-C levels do not necessarily reduce cardiovascular events, highlighting the need for new approaches that improve HDL functionality. Therapeutic strategies such as Apo A-1 mimetic peptides, reconstituted HDL infusions, and drugs targeting specific HDL metabolic pathways are being explored. Additionally, weight loss, statin therapy, and niacin have shown potential in enhancing HDL function. The pathophysiology of dysfunctional HDL involves complex mechanisms, including oxidative stress, inflammation, and genetic mutations, which alter its structure and function, diminishing its cardioprotective effects. New functional assays, such as the cholesterol efflux capacity (CEC) and HDL inflammatory index, provide more accurate predictions of cardiovascular risk by assessing HDL quality rather than quantity. As research progresses, the focus is shifting towards therapeutic strategies that enhance HDL function and address the root causes of its dysfunction, offering a more effective approach to reducing cardiovascular risk and preventing CAD.

Background/Objectives: In 2020, ovarian cancer ranked fourth in global incidence among gynecological cancers and remains the deadliest cancer affecting women's health. Survival rates are significantly higher when the disease is detected at early stages; however, the lack of effective early detection methods underscores the importance of identifying risk factors in order to implement preventive strategies. The objective of this work is to provide an overview of the risk factors of ovarian cancer in South America, emphasizing those linked to social determinants, genetic components, and comorbidities. Methods: A literature search was performed using PubMed and Google Scholar. MeSH descriptors and keywords, such as "BRCA1 genes," "BRCA2 genes", "Latin America", and "ovarian neoplasms" were used, along with terms related to socioeconomic and health factors. Inclusion criteria focused on original studies published in the last five years involving South American women. Results: Studies were identified from Argentina, Brazil, Chile, Colombia, Ecuador, and Peru. These studies addressed genetic factors, health status at diagnosis, and sociodemographic factors, revealing important data gaps, particularly on contraception and hormone replacement therapy. The prevalence of BRCA1 and BRCA2 mutations in South America is estimated to be 15-20% among women with inherited risk factors. Social, demographic and economic factors vary by country, although commonalities include a higher prevalence among women over 50 years of age, those with limited education, and those who face barriers to accessing health care. Conclusions: Although the literature does not conclusively establish a direct link between obesity and/or diabetes and the development of ovarian cancer, the indirect association highlights the need for further clinical studies. A general research gap related to risk factors of ovarian cancer could be observed in the South American region.

Background: Frailty associated with aging increases the risk of falls, disability, and death. The aim of this study is to explore gender-related disparities in the survival outcomes of pathological femoral fractures in older frail patients, while analyzing potential specific prognostic factors.

Methods: This study is a retrospective observational analysis conducted at a single medical center. It enrolled all patients aged 65 and above who were admitted to our emergency department between 2016 and 2020 with a diagnosis of pathological femur fracture requiring surgical intervention. The primary study endpoint was evaluating gender-related differences in survival outcomes. The secondary endpoint involves investigating gender-specific prognostic factors through the analysis of clinical and laboratory parameters.

Results: The average Charlson Comorbidity Index (CCI) was slightly lower in men, but the difference was not statistically significant (p = 0.53). The Clinical Frailty Scale (CFS) showed similar results, with men and women 5.23 (SD 1.46), also not significant (p = 0.83). An evaluation comparing patients aged 75 years or younger to those older than 75 years found significant differences in health metrics. The average CCI was higher in the over 75 group compared to the under 75 group, with a p-value of 0.001. Similarly, the CFS average was also greater in the over 75 group than in the under 75 group, with a p-value of 0.0001. Complications were more frequent in patients over 75 and those with lower educational qualifications. The evaluation analyzed cardiac patients compared to a control group, revealing that the average age of cardiac patients was 75.22 years, while the control group was younger at 73.98 years (p = 0.5119). The CCI for cardiac patients averaged 6.53, significantly higher than 4.43 for non-cardiac patients (p = 0.0003).

Conclusion: Frailty assessment is therefore essential in patients with pathological fracture of the proximal femur and is an important predictor of both gender differences and hospital complications. Enhancing gender analysis in this field is crucial to gather more robust evidence and deeper comprehension of potential sex- and gender-based disparities.

Background/objectives: Age-related macular degeneration (AMD) is one of the main causes of blindness and visual impairment worldwide. Intravitreal complement inhibitors are an emergent approach in the treatment of AMD, which have had encouraging results. This systematic review analyzes the outcomes and safety of complement inhibitor therapies for GA in AMD cases.

Methods: A comprehensive search on the PubMed and Web of Science databases returned 18 studies involving various complement inhibitor agents, with a total of 4272 patients and a mean follow-up of 68.2 ± 20.4 weeks.

Results: Most treated patients were white (96.8%) and female (55.8%), with a mean age of 78.3 ± 7.8 years and a mean GA area of 8.0 ± 3.9 mm². There were no differences in visual function change between treated and control participants. The mean GA area change was 2.4 ± 0.7 mm² in treated participants vs. 2.7 ± 0.8 mm² in control groups (p < 0.001). The ocular and systemic side effects were similar to those of intravitreal anti-VEGF. A less-understood effect was that of the onset of choroidal neovascularization (CNV) in 1.1-13% of patients; this effect was found to be more frequent in patients with neovascular AMD in the fellow eye or nonexudative CNV in the study eye at baseline.

Conclusions: Complement inhibitors may represent a useful therapy for GA in AMD, but a personalized approach to patient selection is necessary to optimize the outcomes.

Background/objectives: Global fertility rates are declining due to metabolic and mental health challenges in women trying to conceive. The Healthy Early Life Moments in Singapore (HELMS) program aims to address these challenges through mobile health (mHealth)-enabled lifestyle interventions. However, the lack of validated evaluation tools for such programs makes it difficult to assess their feasibility and acceptability. To tackle this, a comprehensive evaluation questionnaire was developed and validated to determine if the HELMS preconception program's implementation outcomes were achieved.

Methods: The questionnaire development process included a literature review and a two-step validation process: content validation by five content experts and face validation by 20 HELMS participants. Content validation was assessed using the scale content validity index (S-CVI) based on relevance, clarity, simplicity, and ambiguity. Face validation with participants evaluated these criteria and the ease of completing the questionnaire. Internal consistency was assessed using Cronbach's alpha among 49 participants.

Results: The questionnaire achieved good S-CVI values for relevance (0.93), clarity (0.91), simplicity (0.94), and ambiguity (0.71). After expert feedback, the revised version scored highly among HELMS participants for relevance (100%), clarity (95%), simplicity (95%), and non-ambiguity (90%). A Cronbach's alpha of 0.93 indicated good internal consistency.

Conclusion: The HELMS evaluation questionnaire shows promise for evaluating similar mHealth-based lifestyle intervention programs globally.

Background/objectives: Multi-gene, multi-cancer, hereditary cancer risk screenings may be useful in cancer prevention and treatment, not only for cancer patients but also for patients' family members. If genetic cancer screening is to have the widest possible benefit, it must be extended into diverse cancer care settings that serve diverse patient communities, providing cancer patients and their relatives with individualized cancer risk evaluations. Little research, to date, has examined the impact of extending multigenic cancer screening into diverse settings. Without empirical data characterizing the support needs of cancer patients and their family members, we may not adequately satisfy the needs of all patients and risk exacerbating existing disparities in cancer care and outcomes.

Methods: We examined patient perspectives on the sharing of genetic results with at-risk family members by surveying a racially diverse sample of cancer patients receiving a multi-gene, multi-cancer risk screen in a community hospital setting.

Results: In a survey of 230 cancer patients, we found that intent to share results with family members was high but varied across family member types. More respondents planned to disclose results to at least one sister (82.5%) compared to at least one brother (73.1%). Over one-fourth of participants (27.4%) were either uncertain about sharing or intended to withhold their genomic screening results from at least one at-risk family member eligible for cascade testing. Participants were more likely to withhold their results from a sibling than from a child. Furthermore, intent to share across all family member types was lower if probands failed to identify at least one benefit to sharing.

Conclusions: Understanding factors associated with decisions to share results with at-risk relatives in diverse patient populations can help clinicians support cascade genetic cancer screenings in diverse communities and settings.

(1) Background: Digitization is of the utmost importance in improving the transfer of medical data. In order to emphasize the need for the greater implementation of digital solutions, we compared analog PROMs (aPROMs) to electronic PROMs (ePROMs) to emphasize the time benefits for clinical everyday life. (2) Methods: This prospective, observational study compared the evaluation of SF-36 in patients between 18 and 80 years old with musculoskeletal pathologies. We performed an age-independent and age-dependent analysis. (3) Results: After the import of aPROMs data, ePROMs took significantly less time (11.97 ± 3.00 min vs. 9.41 ± 3.12 min, p = 0.002, d = 0.797). There were no significant differences associated with age for aPROMs (7.23 ± 2.57 min vs. 8.38 ± 2.71 min, p = 0.061, d = -0.607) or ePROMs (8.72 ± 2.19 min vs. 10.09 ± 3.80 min, p = 0.130, d = -0.436), respectively. (4) Conclusions: This study indicates that ePROMs are a time-feasible method for collecting data to guide patient-personalized treatment approaches.

Aims: It was the scope of this study to explore the biomechanical implications of retraction force application point modifications in lingual orthodontics, aiming to mitigate the bowing effect and enhance anchorage stability in the anterior teeth.

Methods: Using the FE method on an idealized maxillary model, en masse retraction was simulated using a modified lingual fixed appliance including edgewise lingual brackets, a 0.017″ × 0.025″ mushroom-shaped archwire, and power arms between lateral incisors and canines, with a transpalatal arch (TPA) connecting the first molars. Applying bilateral retraction forces of 1.5 N at twelve positions, initial tooth displacements during space closure were evaluated.

Results: Shifting power arms gingivally did not effectively counteract palatal tipping of incisors but reduced posterior and palatal tipping of canines with a power arm length of 11.3 mm preventing posterior tipping. Apically displacing the TPA retraction force increased mesiobuccal rotation while preventing mesial molar tipping for retraction forces applied 12.6 mm from the archwire.

Conclusions: Apically shifting retraction forces can mitigate vertical bowing effects in lingual orthodontics, yet it also highlights the challenges in maintaining torque in the anterior teeth. Further research and clinical validation are essential in order to confirm these results, emphasizing the complexity and need for advanced biomechanical strategies in personalized lingual orthodontic treatments.

Background: Basal cell carcinomas (BCCs) are common human malignancies with a rising incidence in recent years. While BCCs have a low mortality rate, they are often associated with significant local skin damage characterized by erythema, skin ulceration, and persistent pigmentation. Surgery, radiotherapy, and systemic chemotherapy have traditionally been the principal treatments for these skin injuries. However, electrochemotherapy has recently been proposed as a novel local treatment with promising results for various skin cancers, including BCC, while avoiding the side effects of conventional therapies. ECT involves a local electrical stimulus that enhances cell membrane permeability, thereby enabling the targeted intracellular accumulation of the chemotherapeutic agent.

Case report: We report a case of a 68-year-old man with an ulcerated BCC, following his progress up to 14 months post-ECT treatment, with positive outcomes.

Discussion and conclusions: We achieved a complete clinical response and noted an improvement in the patient's quality of life. This technique is fast, repeatable, requires minimal hospitalization, and reduces healthcare costs and adverse effects compared to major surgery. Therefore, it can be considered an alternative or complementary approach to traditional surgery for treating BCC of the head and neck.