Journal of Personalized Medicine最新文献

Background/objective: Studies suggest that the neutrophil/lymphocyte ratio (NLR) may be a prognostic marker for different diseases with inflammatory components. This study aimed to quantify the NLR in individuals affected by different subtypes and severities of ischemic stroke and associated it with risk factors and treatment, and compared the results with data from healthy individuals. Methods: Clinical and laboratory data from medical records of patients over 18 years of age, victims of ischemic stroke, were collected. Data included leukocyte count and subtype, topography, risk factors, treatment and severity of stroke. For comparison, the number of leukocytes in healthy individuals was also quantified. NLR was determined by dividing the number of neutrophils by the number of lymphocytes. Results: A total of 218 patients were included, 194 stroke patients and 24 healthy individuals. Among all stroke patients, 45% had NLR values > 4 and 35% had values between 2 and 4; otherwise, 71% of healthy individuals had NRL < 2. The data also showed that the greater the severity of the stroke, measured by the NIHSS scale, the higher the NLR, at 24 and 72 h after the stroke. Among the stroke subtypes evaluated, the one with the lowest NLR values was small vessel stroke. Finally, the risk factors for stroke, its topography and treatment were not associated with NLR values. Conclusions: NLR is associated with stroke severity but does not correlate with stroke risk factors, topography, and treatment. The NLR may serve as a marker of stroke severity.

Abdominal aortic aneurysm (AAA) is a significant vascular condition characterized by the dilation of the abdominal aorta, presenting a substantial risk of rupture and associated high mortality rates. Current management strategies primarily rely on aneurysm diameter and growth rates to predict rupture risk and determine the timing of surgical intervention. However, this approach has limitations, as ruptures can occur in smaller AAAs below surgical thresholds, and many large AAAs remain stable without intervention. This review highlights the need for more precise and individualized assessment tools that integrate biomechanical parameters such as wall stress, wall strength, and hemodynamic factors. Advancements in imaging modalities like ultrasound elastography, computed tomography (CT) angiography, and magnetic resonance imaging (MRI), combined with artificial intelligence, offer enhanced capabilities to assess biomechanical indices and predict rupture risk more accurately. Incorporating these technologies can lead to personalized medicine approaches, improving decision-making regarding the timing of interventions. Additionally, emerging treatments focusing on targeted delivery of therapeutics to weakened areas of the aortic wall, such as nanoparticle-based drug delivery, stem cell therapy, and gene editing techniques like CRISPR-Cas9, show promise in strengthening the aortic wall and halting aneurysm progression. By validating advanced screening modalities and developing targeted treatments, the future management of AAA aims to reduce unnecessary surgeries, prevent ruptures, and significantly improve patient outcomes.

Objectives: This study evaluated the accuracy of diagnosing oral and maxillofacial diseases using telehealth. Methods: We recruited 100 patients from the Oral Health Centre of Western Australia. They were either new patients or existing patients with a condition not previously diagnosed. The patients initially underwent a telehealth consultation without administrative or clinical staff assistance. On the same day, they also received a traditional in-office (face-to-face) consultation with an Oral Medicine registrar and/or consultant. Results: In this study, 70 patients were consulted via telehealth for a mucosal condition, while 30 were consulted for orofacial pain. When comparing telehealth diagnoses to in-person diagnoses, 65.7% of mucosal cases and 70% of orofacial pain cases had the same diagnosis. Furthermore, regarding the diagnoses within the chief complaint's telehealth differential diagnosis list, 87.1% were similar in the mucosal cases, and 96.7% were similar in orofacial pain cases compared to the in-office consultation. Conclusions: Our study's findings demonstrate that telehealth is less reliable than the gold standard in-person consultation for diagnosing oral diseases. However, it shows promise as an adjunctive service for screening, triaging, and monitoring patients. Further studies with guidelines for patients undergoing telehealth consultations to improve the diagnostic accuracy of oral and maxillofacial diseases are necessary.

Objectives: Our aim was to evaluate the possible long-term cerebral deposition of amyloid-β in patients with PD treated with subthalamic nucleus deep brain stimulation (STN-DBS) and its possible influence on axial and cognitive variables. Methods: Consecutive PD patients treated with bilateral STN-DBS with a long-term follow-up were included. The amyloid-β deposition was evaluated postoperatively through an 18F-flutemetamol positron emission tomography (PET) study. Axial symptoms were assessed using a standardized clinical-instrumental approach. The speech was assessed by perceptual and acoustic analysis, while gait was assessed by means of the instrumented Timed Up and Go test (iTUG). Motor severity was evaluated by applying the UPDRS part III score and subscores, while cognitive functions were assessed through a complete neuropsychological assessment. Different stimulation and drug conditions were assessed: on-stimulation/off-medication, off-stimulation/off-medication, and on-stimulation/on-medication conditions (single- and dual-task). Results: In total, 19 PD patients (male: 11; age: 63.52 years; on-stimulation/on-medication UPDRS-III: 17.05) with a five-year postoperative follow-up were included. The amyloid-β deposition was found in 21% of patients (4/19) with a prevalent involvement of prefrontal, limbic, and parietal areas. Compared with patients without amyloid-β deposition, PD patients with positive 18F-flutemetamol in the PET study showed a higher preoperative UPDRS-I (p = 0.037) score. Conclusions: Our results suggest that in the long term, after STN-DBS, a significant percentage of PD patients may present brain amyloid-β deposition. However, larger samples are needed to evaluate the possible role of amyloid-β deposition in the development of axial and cognitive alterations after surgery.

Background/Objectives: MRI-guided focal laser ablation (MRI-FLA) is an emerging minimally invasive technique for treating localized prostate tumors, aiming to provide effective cancer control while minimizing side effects. This meta-analysis systematically evaluates the clinical outcomes, technical efficacy, and complication rates associated with MRI-FLA to better understand its therapeutic potential and safety profile in prostate cancer management. Methods: In July 2024, PubMed (MEDLINE) was searched for eligible trials using the PRISMA guidelines. The primary outcome was residual disease (RD). The secondary outcomes were technical efficacy, progression to metastatic disease, cancer-specific mortality, complications, and decreases in the prostate-specific antigen (PSA) level. Results: Nine clinical trials involving 296 patients with prostate tumors treated via MRI-FLA were analyzed. A random effects model showed that the overall RD prevalence after ablation was 20.37% (12.56-29.28%; p = 0.03) and the cancer-free survival rate was 75.62% (64.88-85.10%). The rate of major and minor adverse effects was 14.26% (0.61-37.3%, p < 0.01). Conclusions: MRI-FLA is safe, feasible, and effective, although further trials are required.

Background: Transcranial Magnetic Stimulation-Electroencephalography (TMS-EEG) is a non-operative technique that allows for magnetic cortical stimulation (TMS) and analysis of the electrical currents generated in the brain (EEG). Despite the regular utilization of both techniques independently, little is known about the potential impact of their combination in neurosurgical practice. Methods: This scoping review, conducted following PRISMA guidelines, focused on TMS-EEG in epilepsy, neuro-oncology, and general neurosurgery. A literature search in Embase and Ovid MEDLINE returned 3596 records, which were screened based on predefined inclusion and exclusion criteria. After full-text review, three studies met the inclusion criteria. Two independent investigators conducted study selection and data extraction, with mediators resolving disagreements. The NHLBI tool was used to assess risk of bias in the included studies. Results: A total of 3596 articles were screened following the above-mentioned criteria: two articles and one abstract met the inclusion criteria. TMS-EEG is mentioned as a promising tool to evaluate tumor-brain interaction, improve preoperative speech mapping, and for lateralization epileptic focus in patients undergoing epilepsy surgery. Lack of detailed patient and outcome information preclude further considerations about TMS-EEG use beyond the potential applications of this technique. Conclusions: TMS-EEG research in neurosurgery is required to establish the role of this non-invasive brain stimulation-recording technique. Tumor-brain interaction, preoperative mapping, and seizure lateralization are in the front row for its future applications.

Background: Nasal and paranasal sinus masses can arise from a wide range of conditions, both benign and malignant, as well as congenital or acquired. Diagnosing these masses is often challenging, requiring a combination of nasal endoscopy, imaging studies, and histopathological analysis. Initial imaging frequently involves computed tomography or cone beam computed tomography (CBCT) to evaluate the bony anatomy of the nasal cavity and surrounding sinuses, while magnetic resonance imaging (MRI) is typically used for detailed assessment of soft tissues and to aid in differential diagnosis when the findings are inconclusive. Methods: This review examines nasal masses evaluated using CT, CBCT, and MRI, highlighting key imaging features that may assist in differential diagnosis. Results: For non-neoplastic lesions, examples include conditions such as rhinoliths, inverted mesiodens, and septal mucoceles. Benign and borderline tumors discussed encompass lobular capillary hemangioma, inverted papilloma, septal osteoma, chondromesenchymal hamartoma, hemangioma, hemangiopericytoma, antrochoanal polyp, sinonasal angiofibroma, ossifying fibroma, and lipoma. Malignant tumors addressed in this review include adenocarcinoma, esthesioneuroblastoma, non-Hodgkin lymphoma, melanoma, and sarcoma. Conclusions: Diagnosing nasal lesions represent a significant challenge for otolaryngologists. Imaging characteristics of nasal masses play a crucial role in narrowing down differential diagnoses before surgery. However, nasal endoscopy combined with biopsy remains the definitive diagnostic approach.

Background/Objectives: Current guidelines recommend Cisplatin/Gemcitabine/Durvalumab as first-line treatment for inoperable or recurrent cholangiocarcinoma (CCA). Molecular tumor boards (MTB) have the expertise to support organ-specific tumor boards with evidence-based treatment recommendations for subsequent lines of treatment, based on genomic tumor data and scientific evidence. This study evaluates the adoption of an MTB at a comprehensive cancer center in Germany and whether actionable genetic alterations are associated with specific imaging phenotypes. Methods: Patients with CCA referred to MTB were enrolled from May 2019 to September 2021. For comparison, a cohort of patients from a second center was included. Data on treatment recommendations, regimens, and survival were collected from prospective registries. Baseline and follow-up contrast-enhanced CT were analyzed according to RECIST 1.1. The chi-square test and t-test were used to compare categorical and continuous variables. Results: 583 patients were referred to the MTB, and 92 patients (47 female/51%) with a mean age of 60.3 ± 11.2 were referred for CCA treatment. 65/92 patients harbored 1-3 targetable mutations. Liver metastases were more frequently observed in patients with targetable mutations (84% vs. 62%). Metastasis to the liver and lung was associated with increased sums of diameters (93 mm and 111 mm vs. 40/73 mm in patients with no liver/lung metastasis). The number of metastases in individual organs was unrelated to treatment targets. Follow-up was available for 25 patients with a median time until imaging progression of 23 weeks. Progression occurred as target progression in 63%, nontarget progression in 13%, and appearance of new lesions in 63%. Conclusions: Most patients with CCA harbored targetable mutations, some were related to disease patterns on imaging. The pattern of treatment response and progression was as diverse as the metastatic spread.

Introduction and aims: Malnutrition is associated with increased morbidity and mortality in patients who undergo cardiac surgery. Nevertheless, objective assessment of malnourished patients undergoing heart transplantation (HT) is limited. We aimed to analyze the relationship between the malnutrition status and the early and late clinical outcomes of patients undergoing HT using a novel semi-quantitative tool. Methods: All patients aged ≥18 years who underwent HT between January 2015 and July 2020 in a single center were retrospectively evaluated and included in the study. The semi-quantitative Malnutrition Universal Screening Tool (MUST) score (already validated in heart failure) was calculated for each patient at the time of transplantation to assess their nutritional status. A propensity score weighting approach was performed to evaluate the association between the increase in MUST score and the risk of early complications and in-hospital mortality. A Cox regression analysis was performed to assess follow-up mortality. Results: A total of 168 HT patients (median age 58.4 years, IQR 49.5-65.2, men n = 128, 76%) were included within the study period. Their median preoperative BMI was 24.0 kg/m² (IQR 21.2-27.9). Preoperative MUST scores of 0, 1, and ≥2 were found in 92 (55%), 24 (14%), and 52 (31%) patients, respectively. The median preoperative eGFR was 64.3 mL/min (IQR 49.0-83.2). An increase in MUST score (from 0 to 2) was not significantly related to major postoperative complications or in-hospital mortality. An analogous increase in MUST score was associated with increased follow-up mortality risk (hazard ratio 1.28, 95% CI 1.04-1.83, p = 0.024). Conclusions: Malnutrition assessed with the MUST score seems not to be associated with increased in-hospital mortality or major postoperative complications in patients who undergo HT, but according to our preliminary data it is related to patients' long-term mortality.

Chronic kidney disease (CKD) is a chronic disorder characterized by kidney fibrosis and extracellular matrix accumulation that can lead to end-stage kidney disease. Epithelial-to-mesenchymal transition, inflammatory cytokines, the TGF-β pathway, Wnt/β-catenin signaling, the Notch pathway, and the NF-κB pathway all play crucial roles in the progression of fibrosis. Current medications, such as renin-angiotensin-aldosterone system inhibitors, try to delay disease development but do not stop or reverse fibrosis. This review emphasizes the growing need for tailored antifibrotic medications for CKD treatment. Precision medicine, which combines proteomic, metabolomic, and genetic data, provides a practical way to personalize treatment regimens. Proteomic signatures, such as CKD273, and genetic markers, such as APOL1 and COL4A5, help in patient stratification and focused therapy development. Two recently developed antifibrotic medications, nintedanib and pirfenidone, have been proven to diminish fibrosis in preclinical animals. Additionally, research is being conducted on the efficacy of investigational drugs targeting CTGF and galectin-3 in the treatment of kidney fibrosis.