Journal of Personalized Medicine最新文献

Residual microcalcifications after neoadjuvant chemotherapy (NAC) in breast cancer remain a complex diagnostic and therapeutic challenge. Although NAC has significantly improved pathologic complete response (pCR) rates and transformed surgical approaches, the persistence or evolution of microcalcifications may not accurately reflect residual disease. This discrepancy complicates radiologic interpretation, impacts surgical decision-making, and may lead to overtreatment or unnecessary mastectomies. This review synthesizes current evidence on the radiologic-pathologic correlation of post-NAC microcalcifications, their prognostic value, and their relevance to guiding surgical management in contemporary precision oncology. A narrative review of the literature was performed, focusing on imaging evolution after NAC, pathologic correlations, predictive and prognostic implications, and the role of microcalcifications in defining optimal surgical strategies, ranging from breast-conserving surgery to mastectomy. Emerging contributions from digital breast tomosynthesis, contrast-enhanced mammography (CEM), Magnetic Resonance (MR) and radiomics are also examined. Studies consistently demonstrate that residual microcalcifications are often poor predictors of viable tumor tissue after NAC. Up to half of cases with persistent calcifications may reflect minimal or absent residual invasive cancer, whereas calcifications may also persist in areas of treatment-induced necrosis or fibrosis. Reliance on calcifications alone may therefore lead to unnecessary extensive resections. Conversely, specific morphologic patterns, especially fine pleomorphic or branching calcifications, are more strongly associated with residual malignancy. Advanced imaging and radiomics show promise in improving predictive accuracy. Residual microcalcifications after NAC should not be interpreted as a direct surrogate of residual disease. A multimodal assessment integrating imaging evolution, tumor biology, and treatment response is essential to optimize surgical planning and avoid overtreatment. Precision surgery in the NAC era increasingly requires individualized decision-making supported by advanced imaging and robust radiologic-pathologic correlation.

Colorectal cancer (CRC) remains one of the leading causes of cancer-related morbidity and mortality worldwide. Despite advances in screening and therapeutic strategies, early detection and individualized treatment remain major challenges. In recent years, an expanding repertoire of biomarkers has emerged, spanning genomic, transcriptomic, proteomic, and metabolomic signatures. Epigenetic features, such as DNA methylation panels, as well as non-coding RNAs and the gut microbiome, hold potential not only for improving early diagnosis but also for refining prognosis and predicting therapeutic responses within the framework of precision oncology. This narrative review provides an updated, integrative overview of CRC diagnostic, prognostic, and predictive biomarkers. We distinguish established markers already in clinical practice, such as RAS and BRAF mutations, HER2 amplification, microsatellite instability/mismatch repair deficiency (MSI/dMMR), and widely investigated molecular alterations including TP53 mutations and immune-checkpoint-related markers, from novel biomarkers with growing translational potential. We also discuss the implementation challenges of these biomarkers in clinical practice, including issues related to validation, standardization, and cost-effectiveness, as well as the multi-modal approach for the development of composite diagnostic panels.

Background/Objectives: Bipolar disorder (BD) is increasingly recognized as a multisystem condition in which metabolic abnormalities, particularly insulin resistance (IR), may be linked to illness severity and neuroprogression. Despite growing evidence linking IR to adverse clinical outcomes, the data is heterogeneous and preliminary, and its specific association in hospitalized patients with BD remains underexplored. Methods: This cross-sectional study included 86 inpatients with a primary diagnosis with BD at the IRCCS Ospedale Policlinico San Martino, Genoa, Italy, between July 2023 and January 2024. Sociodemographic, clinical, and metabolic characteristics were systematically investigated. IR was defined as a HOMA-IR index ≥ 2.5. Results: Twenty-eight patients met criteria for IR. Insulin resistant patients showed a significantly longer illness duration, more frequent residual symptoms, and higher rates of ≥5 lifetime psychiatric hospitalizations. They also exhibited greater polypharmacy (≥4 psychotropics at discharge) and daily alcohol use. Furthermore, the IR subgroup was significantly associated with higher body mass index and triglycerides, lower HDL cholesterol and physical activity levels. Conclusions: Our findings indicate that IR is associated with markers of greater illness burden in BD. While these results are consistent with emerging hypotheses on metabolic dysfunction in BD, longitudinal studies are required to clarify temporal and causal relationships. These associations suggest that IR may represent a clinically relevant component of BD rather than a secondary metabolic consequence. Routine metabolic screening and the preferential use of metabolically neutral agents may improve long-term outcomes and align with the emerging paradigm of precision psychiatry.

Hypoglycaemia in patients with type 1 diabetes mellitus (T1DM) remains a major clinical burden and, beyond its metabolic complications, can cause serious cardiac arrhythmias. Multiple mechanisms lead to different types of arrhythmias during hypoglycaemia. However, existing studies often involve mixed diabetes populations, small cohorts, or limited monitoring during nocturnal periods, leaving a critical gap in understanding the links between glucose fluctuations and arrhythmic events. This review provides an updated combination of experimental and clinical evidence describing how autonomic dysfunction and ionic imbalances lead to electrophysiological instability and structural remodelling of the myocardium during hypoglycaemia. Continuous glucose monitoring (CGM) combined with electrocardiographic or wearable rhythm tracking may enable early detection of glycemic and cardiac disturbances and help identify high-risk individuals. Future prospective studies using combined CGM-ECG monitoring, particularly during sleep, are essential to clarify the relationship between hypoglycaemia and arrhythmic events.

The journal retracts the article entitled "Determinants of Disease Progression in Autosomal Dominant Polycystic Kidney Disease" [...].

Background: The advantage of employing multidisciplinary heart teams (MDHT) for the selection process of minimally invasive (MIS) mitral valve repair (MVr) and mitral valve replacement (MVR) has been previously substantiated. Here, we outline the contributions each member of the MDHT at our institution made during the intra-operative and peri-operative periods and describe their impacts on short-term outcomes. Patients and Methods: This is a single-center retrospective review of all 278 adult patients who underwent MIS MVR or MVr by a single surgeon at our institution between 2006 and 2023. The repair's efficacy was assessed intraoperatively and at 1 year post-operation. The surgical technique involved a mini-thoracotomy and valve repair or replacement. Outcomes included post-operative mortality, complications, operative time, repair success rate, hospital length of stay (LOS), and post-operative ejection fraction. There was no control group, as all patients undergoing MIS MVR/MVr were treated within an MDHT model. Results: Delivery of regional anesthesia via paravertebral catheter (PVC) was associated with a statistically significant shorter hospital LOS (6.52 vs. 7.81 days, p = 0.028). Enhanced Recovery After Surgery (ERAS) implementation by nurses was associated with a potentially clinically important, although not statistically significant, reduction in LOS (6.7 vs. 10.1 days, p = 0.168). Introduction of the COR-KNOT^® DEVICE for securing annuloplasty sutures was associated with a statistically significant reduction in operative time (288 vs. 326 min, p < 0.001). Percutaneous cannulation, proctored by interventional cardiology in 2019, was associated with a decrease in lymphocele rate from 6.2% before 2019 to 0% after 2019. Conclusions: Initiatives implemented by our MDHT were associated with reduced post-operative LOS, shorter operative times, and lower incidence of post-operative complications.

Background/Objective: Parastomal hernia (PSH) following radical cystectomy (RC) with ileal conduit represents a significant late complication. Preventive strategies have been described but are not yet routinely incorporated into clinical practice. We conducted a systematic review of the current literature to assess the efficacy of PSH preventive techniques for ileal conduit. Methods: A literature search of PubMed/MEDLINE, Scopus, CENTRAL, and Web of Science databases was conducted from 2010 to December 2024 following PRISMA guidelines. Inclusion criteria were patients undergoing RC with ileal conduit, evaluation of at least one PSH preventive strategy and reporting of PSH incidence or relevant postoperative outcomes. Eligible designs included RCTs and non-randomized cohort studies. Exclusion criteria included urinary diversions other than ileal conduit, non-bladder-related indications, non-extractable outcome data, and non-original publications. Results: Three randomized controlled trials (RCTs) and nine non-randomized studies were included in the analysis. Studies investigating both mesh and non-mesh preventive techniques were considered. Clinical PSH recurrence rates following mesh placement ranged from 0.0% to 11.1% among the included studies. RCTs using mesh placement reported conflicting conclusions regarding its protective effects. For non-mesh preventive strategies, clinical PSH recurrence rates ranged from 0.0% to 11.5%. The only RCT focusing on non-mesh approaches reported positive protective effects for the experimental group. All procedures were safe, with no significant increase in complication rates compared to conventional interventions. Conclusions: The low quality of current evidence prevents definitive conclusions regarding the protective effects of both mesh and non-mesh preventive approaches. High-quality evidence is needed to make conclusive statements on this topic. Patients at high risk for PSH development should be offered personalized preoperative counselling and the opportunity to participate in ongoing RCTs.

Background/Objectives: Poiseuille's law describes the influence of radius, length, viscosity, and pressure on the flow of Newtonian fluids. Although bone cement is a non-Newtonian, shear-thinning, and polymerizing material that does not comply with this law in any predictive or quantitative sense, its qualitative principles may offer a didactic framework for understanding factors that affect injectability during cementoplasty. The objective of this Technical Note is to provide an educational and conceptual interpretation of Poiseuille's law as it relates to trocar selection, cement behavior, and procedural planning. Methods: This work presents theoretical calculations based on the r⁴/L component of Poiseuille's equation, using manufacturer-specified internal radii for commonly used trocars. Relative flow rates were computed as r⁴/L ratios normalized to a 13-gauge, 15 cm trocar. Conceptual viscosity profiles illustrate qualitative differences among cements over time. A representative, fully anonymized clinical example is provided to illustrate the integration of these conceptual principles into practice. No experimental measurements were performed. Results: Theoretical calculations show that trocar radius has the strongest influence on theoretical flow, with an exponential effect (r⁴), whereas increasing trocar length proportionally reduces flow. Conceptual viscosity curves demonstrate the rapid rise in viscosity during polymerization and highlight the importance of timing and cement selection. The clinical example illustrates how trocar choice, access planning, and cement viscosity are adapted to lesion morphology and cortical integrity. Conclusions: Poiseuille's law cannot model or predict bone cement behavior and has no procedural or clinical validity in cementoplasty. Its use in this Technical Note is strictly educational, providing a qualitative framework to illustrate general relationships between equipment characteristics, viscosity evolution, and resistance during injection, without offering clinical guidance or implying any impact on procedural planning, safety, or outcomes.

Asthma is a common chronic disease in children, contributing to significant morbidity and healthcare utilization worldwide. The integration of artificial intelligence (AI) and machine learning (ML) into pediatric asthma care is rapidly advancing, offering new opportunities for early diagnosis, risk stratification, and personalized management. AI-driven tools can analyze complex clinical, genetic, and environmental data to identify asthma phenotypes and endotypes, predict exacerbations, and support timely interventions. In pediatric populations, these technologies enable non-invasive diagnostic approaches, remote monitoring through wearable devices, and improved medication adherence via smart inhalers and digital health platforms. Despite these advances, challenges remain, including the need for pediatric-specific datasets, transparency in AI decision-making, and careful attention to data privacy and equity. The integration of AI in pediatric asthma care and into the clinical decision system can offer personalized treatment plans, reducing the burden of the disease both for patients and health professionals. This is a narrative review on the applications of AI and ML in pediatric asthma care.

Objective: Pain is among the most common and debilitating symptoms experienced by oncology patients and has been associated with adverse mental health outcomes, including depression and suicide. Nevertheless, the relationship between pain and suicide in oncology populations remains insufficiently characterized. A clearer understanding of this interplay is essential to guide personalized approaches aimed at reducing cancer-related burden and improving quality of life. Methods: We searched PubMed and PsycInfo without imposing limits regarding publication date using pain* AND (suicid* OR "self-harm" OR "self-injurious behavior" OR "self-inflicted injury" or "self-killing") AND (cancer* OR oncolog* OR tumor* OR neoplasm* OR metasta*). A total of 832 articles were identified, and 15 of them were included in our review. Results: Inadequately managed pain in cancer patients is associated with a significantly elevated risk of suicidal ideation. This association is further exacerbated in individuals presenting with depressive symptoms, advanced-stage disease, or limited access to timely psychological support. These factors may interact synergistically, intensifying the emotional and cognitive burden of pain, thereby increasing vulnerability in cancer patients. Conclusions: Cancer-related pain should be conceptualized as a highly variable indicator of psychological vulnerability. Factors influencing this variability include cancer type and severity, as well as the presence of past psychopathology. These findings support the need for a personalized medicine approach, whereby pain management and psychosocial interventions are tailored to patient-specific factors such as disease stage, psychological comorbidity, and access to supportive care.