Advances in Clinical and Experimental Medicine最新文献

Electroencephalography has advanced from spectral analyses to integrate functional-connectivity and oscillatory metrics, offering mechanistic insights into network dysfunction across neurological and psychiatric disorders. Methodological advances, such as source reconstruction and brain modelling, enhance spatial precision and mitigate volume conduction. Empirical studies show that oscillatory brain activity and functional connectivity serve human cognition and their disruptions underlie symptoms in a variety of neuropsychiatric disorders. The study of the relation between brain oscillations and connectivity is pivotal for the advances in cognitive and clinical neuroscience. Crucially, integrating these biomarkers into machine-learning frameworks and closed-loop neuromodulation holds promise for personalized diagnostics and interventions.

The rising prevalence of chronic diseases presents a major challenge to healthcare systems worldwide, particularly within primary care. While advances in diagnostics and therapeutics have improved disease management, traditional care models often neglect the individual contexts and lived experiences of patients. Personalized medicine (PM) offers a paradigm shift from standardized treatment approaches toward patient-specific care, integrating biological, behavioral and psychosocial dimensions to optimize outcomes. This editorial synthesizes findings from the Regions4PerMed (Horizon 2020) project, encompassing focus groups, stakeholder surveys and best practice analyses across 20 European countries. Stakeholders from government, academia, patient organizations and healthcare practice, identified key barriers to PM implementation, including fragmented data systems, insufficient clinician training and limited patient engagement. Cross-border data exchange standards, integration of real-world evidence (RWE) and sustainable funding mechanisms emerged as critical enablers of progress. The transition from concept to practice requires aligning policy, technology and human factors. Personalized care extends beyond genomics and precision therapies to encompass communication, motivation and shared decision-making. Training healthcare professionals in holistic competencies, enhancing digital literacy and promoting trust in data-driven systems are essential for successful adoption. By reframing personalization as both a scientific and relational endeavor, PM can strengthen chronic disease care through more adaptive, patient-centered models. Coordinated action across policy, education and technology domains is vital to embed personalization into everyday clinical practice and ensure sustainable, equitable healthcare delivery across Europe.

Background: A correlation between thyroid function and cognitive impairment has been well established; however, the impact of thyroid dysfunction on structural changes in the brain cortex remains largely unexplored.

Objectives: The study describes a 2-sample Mendelian randomization (MR) analysis to elucidate the relationship between thyroid malfunction and brain structure and function.

Material and methods: Eight phenotypes of thyroid function were extracted from THYROIDOMICS consortium by determining free thyroxine (FT4) and thyroid-stimulating hormone (TSH) levels in both men and women separately and together, as well as in individuals with increased or decreased TSH levels. The results were assessed in terms of overall brain cortical thickness and the surface area (SA) of grey matter, along with 34 specific measurements for various regions. The primary method employed for the analysis was the inverse-variance weighted (IVW) approach.

Results: The data were subjected to MR Egger regression, Cochrane's Q statistic and leave-one-out analysis to determine the correlation between the variables. The FT4 in men, women and overall was statistically associated with cortical thickness of entorhinal cortex (EC). Overall TSH and TSH in men were associated with cortical thickness of caudal anterior cingulate. Additionally, in men, TSH levels showed an association with cortical thickness in the cuneus gyrus. Increased TSH was associated with decreased SA of lateral occipital (LO) and increased SA of lateral orbitofrontal, medial orbitofrontal and superior frontal cortex. Decreased TSH was negatively associated with the SA of pars opercularis (PO) and the cortical thickness of posterior cingulate cortex. No pleiotropy was detected.

Conclusions: Our findings indicate a possible causal link between thyroid function and the cortical architecture of particular functional areas associated with neurodegenerative and psychiatric conditions.

Background: Age and gender have been identified as significant factors contributing to the global rise in thyroid cancer (TC), with this disease predominantly affecting women. It is crucial to thoroughly investigate the trends of the disease over time to better understand its progression and potential risk factors.

Objectives: This study analyzed the global incidence of TC using data from the Global Burden of Disease (GBD) database from 1990 to 2021. Additionally, we aimed to develop a high-performance diagnostic model using machine-learning algorithms and to explore the tumor microenvironment through single-cell sequencing.

Material and methods: To analyze trends in incidence, age-period cohort models were applied, with a particular focus on birth cohort and period effects. Machine learning algorithms, including least absolute shrinkage and selection operator (LASSO) and Ridge regression, were used for gene feature selection. Subsequently, cross-validation was conducted to validate the diagnostic model. For deeper insights, single-cell RNA sequencing was conducted to analyze myeloid cell subpopulations within the tumor microenvironment.

Results: Age and period effects emerged as the primary drivers in our analysis of TC trends, particularly among women. Machine learning models, specifically LASSO and Ridge regression, demonstrated high predictive accuracy in diagnosing the disease. Additionally, single-cell RNA sequencing unveiled crucial interactions between myeloid cells and the tumor microenvironment.

Conclusions: This study provides a comprehensive analysis of TC trends and introduces a machine-learning-based diagnostic tool. Additionally, single-cell RNA sequencing offers novel insights into the tumor microenvironment, which may help shape future treatment strategies for TC.

Background: Optic nerve head drusen (ONHD) are benign calcified deposits that can compress local capillaries, disrupt blood flow and potentially lead to visual loss.

Objectives: The aim of the study was to present the correlations between optical coherence tomography (OCT), OCT angiography (OCTA) results and fundus autofluorescence (FAF) findings in patients with ONHD, and to highlight the importance of multimodal imaging in the diagnosis and management of this pathology.

Material and methods: This retrospective study included 21 patients (36 eyes) with ONHD, with a mean age of 45.75 years (range: 19-71 years), who had no other ocular pathologies. All participants underwent a full ophthalmic examination and multimodal imaging using the DRI Triton OCT (Topcon). Drusen presence was divided into quadrants based on FAF and correlated with OCT and OCTA results.

Results: Optic nerve head drusen were unilateral in 6 patients (28.57%) and bilateral in 15 (71.43%). Drusen were most common in the nasal and superior quadrants (NQ and SQ) but were significantly more frequent in the inferior (IQ) and temporal (TQ) quadrants in patients with bilateral ONHD. Eyes with drusen located in the IQ and TQ showed a significantly decreased radial peripapillary capillary (RPCP) vessel density (VD). Retinal nerve fibre layer (RNFL) measurements showed the strongest positive correlations with RPCP, especially in the IQ (r = 0.78, p < 0.001). Ganglion cell layer and nerve fiber layer (GCL++) thickness showed significant correlations with RPCP VD, particularly in the IQ and TQ (p < 0.001 for both).

Conclusions: Fundus autofluorescence is a valuable tool for identifying superficial drusen. Optical coherence tomography and OCTA are effective in assessing optic nerve fiber integrity and microvascular changes. Microcirculation assessment using OCTA should focus not only on the radial peripapillary capillaries (RPCP), but also on the macular region. Multimodal imaging plays a crucial role in the accurate diagnosis and comprehensive evaluation of patients with ONHD. Further longitudinal studies are needed to investigate how these correlations evolve over time, particularly in the context of ONHD progression.

Heart failure with preserved ejection fraction (HFpEF) poses a significant clinical challenge due to its increasing incidence, diagnostic complexities and pathophysiological heterogeneity. This study offers valuable insights into the role of urinary biomarkers in patients with HFpEF. Our research focused on profiling alterations in urinary biomarkers, encompassing albumin, indicators of tubular injury, oxidative stress markers, and proteomic changes in individuals with this condition. These findings may provide a potential tool for addressing the diagnostic challenges associated with HFpEF, particularly given the absence of specific cutoff points in the diagnosis of this disease. Furthermore, we explored the potential pathophysiological relationships of these biomarkers, which, in a broader context, facilitate a deeper understanding of this complex disease and may identify potential pharmacotherapeutic targets. We also examined the prognostic value of the identified biomarkers, which could serve as useful instruments for predicting disease risk and forecasting clinical outcomes. Additionally, we emphasized the existing knowledge surrounding potential biomarkers, suggesting that a better understanding of these markers may contribute to the development of clinically relevant tools and enhance our comprehension of HFpEF. The findings from this study align with the current literature, which underscores the complexity of HFpEF and the need for innovative diagnostic, prognostic and therapeutic strategies.

Background: Evidence regarding the optimal timing of peritoneal dialysis catheter (PDC) removal in renal graft recipients is limited. While some centers opt for removal during the transplant procedure, others defer catheter removal to various time points post-transplantation.

Objectives: In this multicenter cardinality-matched cohort study, we aimed to determine the optimal timing of PDC removal in patients undergoing kidney transplantation.

Material and methods: Data from 324 patients were collected across 5 centers. We compared patients who had catheters removed during renal transplant (the PDC-free group) with those who had them removed after the procedure (the PDC group), matched 1:2 by age, sex, body mass index (BMI), living, and extended criteria donor statuses. We evaluated: 1) the need for dialysis within 2 post-transplant months, 2) a composite endpoint of catheter-related infection, peritonitis and/or surgical site infection, and 3) the length of hospitalization.

Results: After cardinality matching, the groups were well-balanced across all matching covariates. Postoperative dialysis was required in 14% of patients, with no statistically significant difference observed between the PDC-free and PDC groups (19% vs 12%; odds ratio (OR) = 1.94; 95% confidence interval (95% CI): 0.78-4.81; p = 0.152). Of the 14 patients in the PDC group who required dialysis postoperatively, only 3 were managed with peritoneal dialysis. No statistically significant difference was noted for the composite endpoint (8.6% vs 6.2%; OR = 0.74; 95% CI: 0.20-2.77; p = 0.656). Hospitalization was significantly longer in patients from the PDC group (median [interquartile range (IQR)]: 11 [9-15] vs 9 [7-12]; BM = -3.036; p = 0.003).

Conclusions: This study did not demonstrate any benefits associated with delaying PDC removal in renal graft recipients. On the contrary, postponing removal was linked to prolonged hospitalization.

Background: Even though ongoing intervention is essential, several uncertainties remain about the management of intraoperative pressure wound ulcers in breast cancer patients.

Objectives: To evaluate the impact of the ongoing intervention for intraoperative pressure wound ulcer problems related with female breast cancer patients, a meta-analysis study was conducted.

Material and methods: Up until June 2024, comprehensive literature study was completed and 2,720 related studies were found. At the beginning point, 9 studies that were chosen included 1,467 women with breast cancer. Using dichotomous or continuous techniques and a random model, the odds ratio (OR) and mean difference (MD) and 95% confidence intervals (95% CIs) were used to evaluate the impact of continuous intervention for intraoperative pressure wound ulcers-associated difficulties in women with breast cancer.

Results: In comparison to the control group of female breast cancer patients, continuous intervention resulted in significantly better quality of life (QoL) (MD = 8.07; 95% CI: 4.84-11.29, p < 0.001), fewer intraoperative pressure wound ulcers (OR = 0.18; 95% CI: 0.13-0.24, p < 0.001) and higher Braden risk score (OR = 2.11; 95% CI: 1.91-2.31, p < 0.001).

Conclusion: In comparison to the control group, women with breast cancer undergoing continuous intervention experienced a significantly better QoL fewer intraoperative pressure wound ulcers, and had a higher Braden risk score. However, because there were not many studies chosen for comparison in the meta-analysis, reader's discretion is advised regarding its results.

Background: With the increasing number of older pregnant women and environmental pollution, the incidence of congenital malformations increases every year. Prenatal diagnosis is an effective means of identifying congenital malformations.

Objectives: To evaluate the clinical utility of single nucleotide polymorphism (SNP) microarray analysis during prenatal evaluations.

Material and methods: To assess the similarities and differences between the 2 approaches, 425 pregnant women were selected to undergo prenatal gene SNP microarray analysis and karyotype analysis during prenatal evaluation between January 2020 and August 2021.

Results: The success rate of SNP microarray analysis was 100%, which was statistically different from that of karyotype analysis (92%, Fisher's exact test, p < 0.001). The positive rate of SNP detection was 10.4% higher than karyotype analysis, which was 6.6% (Pearson's χ2 test, χ2 = 3.89, degrees of freedom (df) = 1, p = 0.049). Karyotype analysis detected 28 cases of aneuploidy; SNPs could not only detect these results of karyotype analysis, but 16 cases of copy number variations (CNV) with obvious pathogenicity, including duplications/deletions, chimerism and loss of heterozygosity (LOH).

Conclusions: Single nucleotide polymorphism microarray analysis technology is an important method used in prenatal genetic evaluations, which can find fetal genetic etiologies, correctly evaluate the fetal prognosis during prenatal clinical examination, and provide a more objective basis for whether to continue the pregnancy.

Adverse childhood experiences (ACEs), such as childhood abuse and neglect, have a profound impact on our bodies, affecting the brain, autonomic nervous system, endocrine system, immune and inflammatory systems, as well as genetic expressions. Childhood maltreatment can leave long-lasting neurobiological scars, significantly increasing the risk of developing both physical and mental disorders, including depression and posttraumatic stress disorder (PTSD). The ICD-11, an international disease classification system, has recently introduced new diagnostic criteria for what is known as complex PTSD. In this context, we will briefly overview the neurobiological effects of ACEs, the associated health conditions they can lead to, and potential pathways to recovery. These pathways include promoting the reinstatement of emotional and interpersonal skills that may have been impaired during early development. Approaching ACEs from a holistic perspective may open new avenues for more effective clinical practices for individuals suffering both physically and mentally.