Journal of Personalized Medicine最新文献

Background/Objectives: Sinonasal mucosal melanomas (SNMMs) are rare and aggressive malignancies with poor survival outcomes. Our systematic review and meta-analysis aim to evaluate overall survival (OS) rates in patients with SNMM; Methods: We conducted a systematic search, following PRISMA guidelines across PubMed, Web of Science (WOS), and citation searching for studies reporting survival and prognosis outcomes for SNMMs. Inclusion criteria included studies with 5-year OS rates. Studies were excluded if they included tumor sites other than the paranasal sinuses or nasal cavity, were published in languages other than English and Spanish, or had a sample size of fewer than 15 patients. Two reviewers independently screened studies, extracted data, and assessed study quality using the Joanna Briggs Institute (JBI) critical appraisal checklist. Analyses of survival probabilities were conducted. Meta-analyses were performed using a random-effects model. PROSPERO ID CRD42024565137; Results: A total of 515 articles were identified after removing duplicates, and 99 reports were assessed for eligibility. Of these, 35 studies were included in the meta-analysis, encompassing a total of 2383 SNMM patients, of whom 1192 (50%) were female, with a weighted mean age of 65.4 years (SD = 5.4). Fifteen studies were from Europe (42.9%), six (17.1%) were from America, eleven (31.4%) were from Asia, two (5.7%) were from Australia, and one (2.9%) combined European, United Kingdom, and American populations. The 5-year OS was 34.8 [95% CI = 30.6-39.5], with the highest OS in America at 40.5 [95% CI = 34.1-48.1], followed by Europe at 36.6 [95% CI = 30.6-43.7], Australia at 32.3 [95% CI = 12.5-83.8], and Asia at 28.1 [95% CI = 19.5-40.7]. The age-standardized incidence rate (ASIR) for SNMM ranges was between 0.07 and 0.14 per 100,000 persons/year, with a slightly higher incidence in women than in men; Conclusions: This meta-analysis, one of the largest to date on SNMM, confirms the aggressive nature of this melanoma subtype with poor survival outcomes. Despite geographic differences in survival rates, the overall 5-year survival remains low, highlighting the urgent need for improved treatment strategies and more research to improve patient outcomes.

Background/Objectives: Aortic stenosis (AS) is a critical valvular heart disease associated with significant morbidity and mortality if not managed promptly. Previous studies have highlighted the "weekend effect", where the day of admission impacts outcomes in various cardiac conditions. This study evaluates the impact of weekend versus weekday admissions on outcomes in patients admitted with acutely decompensated aortic stenosis. Methods: We conducted a retrospective cohort study using the National Inpatient Sample database, focusing on patients emergently admitted with decompensated aortic stenosis. Patient outcomes were compared between those admitted on weekends (midnight Friday to midnight Sunday) and weekdays. Results: Among 94,320 patients included, 4537 (4.81%) were admitted on weekends. Weekend admissions were associated with significantly higher mortality (aOR 1.86; 95% CI 1.27-2.74) and longer hospital stays (mean increase 3.18 days; p < 0.001) compared to weekday admissions. Complication rates were also higher on weekends, including cardiogenic shock (aOR 2.1; 95% CI 1.54-2.87; p < 0.001), acute kidney injury (aOR 2.48; 95% CI 2.09-2.94; p < 0.001), and acute respiratory failure (aOR 2.88; 95% CI 2.38-3.49; p < 0.001). Additionally, weekend admissions had lower rates of transcatheter aortic valve replacement (TAVR) (aOR 0.49; 95% CI 0.40-0.62; p < 0.01) than weekday admissions. Conclusions: Patients with aortic stenosis admitted on weekends face significantly higher mortality, extended hospital stays, and increased complication rates compared to weekday admissions. Transcatheter aortic valve replacement (TAVR) rates were also lower for patients admitted on weekends. The "weekend effect" markedly influences outcomes, underscoring the need for hospital and administrative strategies to mitigate these adverse effects. Implementing standardized protocols and optimizing resource allocation during weekends could potentially reduce mortality and improve patient outcomes, offering a path to more equitable healthcare delivery.

The smaller-incision new-generation implantable miniature telescope (SING IMT) represents an advancement over the previous model, WA-IMT, serving as a unilateral prosthetic device for patients with late-stage age-related macular degeneration (AMD). Purpose: This study aims to report changes in multifocal electroretinography (mfERG) 6 months post-SING IMT implantation. Methods: In this case series, we prospectively evaluated a cohort of phakic patients with late-stage AMD who underwent SING IMT implantation at the Ophthalmology Unit, University of Bari Aldo Moro, Italy. We assessed best-corrected distance visual acuity (BCDVA) and best-corrected near visual acuity (BCNVA) preoperatively and at 6 months postoperatively. Additionally, mfERGs were conducted using Retimax (CSO, Florence, Italy). Results: All four treated patients showed an increase in both BCDVA and BCNVA at the 6-month follow-up. Additionally, all eyes demonstrated increased P1 density at this time point, with the greatest augmentation observed at the central fixation point, gradually diminishing across the five concentric rings. While all patients displayed a general increase in P1 amplitude, the third patient exhibited a slight decrease in the foveal region. Conclusions: In this case series with four cases, the new generation implantable miniature telescope, SING IMT, demonstrates promising results in enhancing mfERG parameters in patients with late-stage AMD. Six months post-surgery, we observed an augmentation in both P1 density and amplitude, predominantly at the fixation point and gradually tapering in the surrounding concentric rings.

Background/Objectives: Indocyanine green video angiography, integrated into the operative microscope, is frequently used in cerebrovascular surgery. This technology is often preferred, for cost or availability, to Doppler or intraoperative DSA (digital subtraction angiography). With the same assumption it was possible, in our preliminary experience, to partially vicariate the aforementioned devices using the SPY mode of the Stryker endoscope; it allowed the visualization of fluorescence in high definition. Methods: A retrospective analysis was conducted on a series of five patients suffering from cerebral aneurysm or AVM (arteriovenous malformation) who underwent, during the last year, surgical treatment with the aid of the microscope supported by the Stryker endoscope in the SPY mode for the visualization of the fluorescence emitted by indocyanine green. Results: All aneurysms were completely excluded from the cerebrovascular circulation in the absence of residues in the collar and occlusion of adjacent vessels; the complete removal of the nidus in all the AVMs was achieved with no residues. Conclusions: The intraoperative use of indocyanine green was a safe, rapid, and effective technique within a preliminary case study of "regular-not giant" aneurysms and superficially located AVM. The endoscopic technique in the SPY mode has allowed to partially vicariate the use of Doppler, intraoperative angiography, and integrated microscope video angiography. For these purposes, we propose, in selected cases, the support of the endoscope in the SPY mode during the microsurgical procedure in order to visualize the green fluorescence of indocyanine.

Background/Objectives: Pertussis remains a significant public health concern despite effective vaccines due to diagnostic challenges and symptom overlap with other respiratory infections. This study assesses the prevalence of Bordetella pertussis using advanced polymerase chain reaction (PCR) testing and examines the clinical outcomes over a one-month follow-up. Methods: We conducted a cross-sectional study at the University Hospital of Larissa, Greece, from April to June 2024, collecting 532 nasopharyngeal swabs from patients with respiratory symptoms. Diagnostic testing utilized the BioFire^® Respiratory 2.1 Plus Panel. Demographics, clinical presentations, vaccination histories, and clinical outcomes were systematically recorded and analyzed. Results: Of 532 patients, 47 (8.8%) were diagnosed with pertussis. The mean age was 61.87 ± 13.4 years; 57.4% were female. Only 12.8% had contact with known pertussis patients. Regarding vaccination history, 36.2% had received diphtheria, tetanus, and pertussis vaccines, with the last dose administered an average of 46 years prior to this study. The primary symptom was cough (100%), with additional symptoms including fever (36.2%) and paroxysmal cough (34%). Six patients (12.8%) required hospitalization due to pneumonia and severe respiratory failure. All patients received successful treatment; however, 23.4% reported persistent post-infectious cough at the one-month follow-up. Conclusions: PCR testing significantly improved the diagnosis of pertussis among adults presenting with respiratory symptoms. The findings highlight the need for updated vaccination strategies and improved diagnostic protocols to effectively manage pertussis and reduce its public health impact.

Background/Objectives: In Italy, the incidence of diabetic ketoacidosis (DKA) at diagnosis of type 1 diabetes (T1D) is still very high (35.7-39.6%), especially in youths. We aimed to determine the efficacy of awareness campaigns to prevent DKA on multiple outcomes and identify success predictors. Methods: We searched electronic databases (Pubmed, Cochrane, and Web of Science) for studies published between 1 August 1990 and 1 August 2024. The review included studies that focused on children under 18 years old, and outcomes were measured by comparing before and after implementing the campaigns in the same area and between areas where interventions took place or not. Results: Of 236 records identified, 15 were eligible for analysis. After campaign implementation, the pooled DKA reduction resulted between 1% and 65.5%, based on the characteristics of the campaigns. A decrease in the rate of acute complications, such as cerebral edema, was reported. Hemoglobin A1c (HbA1c) at onset showed a mean reduction of 0.7-5.1%; C-peptide increased in patients without DKA at diagnosis, and length of hospitalization decreased. Campaign costs were lower than the costs of treating subjects with DKA. Conclusions: This review demonstrated that DKA awareness campaigns effectively reduce DKA incidence and improve other parameters, such as acute complications, HbA1c and C-peptide levels, length of hospitalization, and costs, among youths with T1D. To be effective, campaigns must follow specific principles of target population, modality, and minimal duration, as reported in this review.

Spondyloarthritis (SpA) is a group of chronic inflammatory diseases affecting the spine and peripheral joints, causing pain, stiffness, and reduced mobility. This narrative review examines how lifestyle factors-specifically smoking, alcohol consumption, and unhealthy diet-contribute to the onset and progression of SpA. It highlights their impact on disease activity, comorbidities, radiographic damage, and treatment response. Therefore, healthcare providers are encouraged to support patients in making personalized lifestyle changes. These findings underscore the importance of a comprehensive approach to SpA management, integrating lifestyle modifications with conventional therapies for optimal disease control and improved outcomes.

Ebstein's anomaly (EA) is a rare cyanotic form of congenital heart disease (CHD) characterized by apical displacement of the tricuspid valve, with resultant hemodynamic and electrical manifestations. The severity of symptoms is determined by the degree of apical displacement and deformity and incompetence of the tricuspid valve. As a result, patients with EA can be severely symptomatic during infancy and childhood or can be incidentally discovered in the sixth or seventh decade of life. Hallmarks of Ebstein's anomaly include progressive cyanosis, right-sided heart failure, and tachyarrhythmias, among which tachyarrhythmias (most commonly atrial, but also ventricular) are the most common presenting symptoms in Ebstein's anomaly patients during adulthood. This review aims to provide insight into the genetic and electrophysiological (EP) basis underlying the tachyarrhythmias encountered when managing patients with EA.

Background: Mutations in the EPOR gene can disrupt its normal signaling pathways, leading to hematological disorders such as polycythemia vera and other myeloproliferative diseases.

Methodology: In this study, a range of bioinformatics tools, including SIFT, PolyPhen-2, SNAP2, SNPs & Go, PhD-SNP, I-Mutant2.0, MuPro, MutPred, ConSurf, HOPE, and Interpro were used to assess the deleterious effects of missense nonsynonymous single nucleotide polymorphisms (nsSNPs) on protein structure and function. Furthermore, molecular dynamics simulations (MDS) were conducted to assess the structural deviations of the identified mutant variants in comparison to the wild type.

Results: The results identified two nsSNPs, R223P and G302S, as deleterious, significantly affecting protein structure and function. Both substitutions occur in functionally conserved regions and are predicted to be pathogenic, associated with altered molecular mechanisms. The MDSs indicated that while the wild-type EPOR maintained optimal stability, the G302S and R223P variants exhibited substantial deviations, adversely affecting overall protein stability and compactness.

Conclusions: The computational analysis of missense nsSNPs in the EPOR gene identified two missense SNPs, R223P and G302S, as deleterious, occurring at highly conserved regions, and having substantial effects on erythropoietin receptor (EPO-R) protein structure and function, suggesting their potential pathogenic consequences.

Background: This study aims to evaluate the efficacy and safety of mepolizumab in the treatment of severe uncontrolled CRSwNP with or without comorbid asthma in a real-life setting over the first six months of therapy. Methods: A total of 45 patients with nasal polyps with or without comorbid asthma were treated with mepolizumab (100 mg q4w) for 6 months. The following outcomes were assessed before therapy (V⁰), and after 6 months (V¹): endoscopic nasal polyp score (NPS), nasal congestion score (NCS), sinonasal outcome test (SNOT-22), visual analog scale (VAS), nasal flow rate (PNIF), olfactory test (SS-I), and asthma control test (ACT). Blood eosinophil count, oral steroid intake, and rescue surgery were also measured. Results: We found a statistically significant improvement in NPS, NCS, SNOT-22, overall VAS, PNIF, SS-I, and ACT. In addition, we observed a decrease in blood eosinophils count. Mepolizumab was well tolerated, and no patients interrupted the treatment during the follow up. Conclusions: Our real-life study confirmed the efficacy and tolerance of mepolizumab prescribed for CRSwNP with or without asthma. The safety profile of mepolizumab was consistent with previous reports.