Journal of Personalized Medicine

Background: Spondyloarthritis (SpA) typically develops before 40 years of age, but increasing life expectancy has led to a growing number of cases in older adults. It is well known that age at onset may influence disease presentation, comorbidities, and patient outcomes. Objectives: To assess whether age at onset influences SpA clinical presentation. Methods: We analyzed clinical, demographic, clinimetric, and imaging data in 272 SpA patients, grouped by onset age: early (≤40, n = 119), intermediate (41–59, n = 127), and late (≥60, n = 26). All patients had a minimum follow-up duration of 12 months. Their epidemiologic, clinic, and clinimetric data were collected, as well as patient-reported outcome measures (PROs) [Patient Global Assessment (PGA), Health Assessment Questionnaire (HAQ), FACIT-Fatigue (FACIT-F), SHORT-FORM 36 (SF-36), Hospital Anxiety and Depression Scale (HADS), Work Productivity and Activity Impairment Questionnaire (WPAI), CSI (Central Sensitization Inventory), and Psoriatic Arthritis Impact of Disease (PsAID) questionnaire]. In univariate analyses, differences in categorical variables across onset groups were assessed using Fisher’s exact test; for continuous variables, between-group comparisons were performed using the Mann–Whitney U test (two-tailed) or the Kruskal–Wallis test, as appropriate, with Bonferroni correction for post hoc analyses. Multivariable regression models were subsequently fitted, adjusting for sex, diagnosis, and disease duration. For binary outcomes, multivariable logistic regression models were used, while multivariable linear regression models (ANCOVA) were applied for continuous outcomes. The overall association between onset group and each outcome was formally tested using likelihood ratio tests, comparing models including the onset variable with nested models excluding it. A p-value < 0.05 was considered statistically significant. Results: Patients’ mean age was 60.0 ± 13.7 years; 55.9% of them were males; and there were 188 cases (69.1%) of psoriatic arthritis (PsA) and 84 cases (30.9%) of ankylosing spondylitis (AS). In early-onset patients, inflammatory back pain (IBP) was more frequent, whereas late-onset patients more often presented with joint swelling. A family history of SpA and psoriasis was less common in late-onset forms. Comorbidities, including osteoporosis, osteoarthritis, hypertension, hyperuricemia, and diabetes, were more prevalent in older-onset patients, resulting in a higher overall comorbidity burden in Groups 2 and 3. Patient-reported outcomes were largely similar across age groups, although work activity limitation was more pronounced in younger patients. Conclusions: Age at onset seems to influence SpA phenotypes: early-onset could favor axial involvement, while late-onset may associate with peripheral arthritis. Late-onset forms are associated with a more severe comorbidity burden, in particular for cardiovascular risk factors. Lung involvement proved to be more prevalent with respect to the general population, so it should be checked in the routinary assessment of SpA patients. These findings suggest that rheumatologists could tailor their routine assessments based on patients’ age at disease onset. Interestingly, work productivity seems more impacted in early-onset patients. All these points highlight the importance of age at disease onset in SpA, guiding toward personalized medicine in terms of follow-up, therapy, and more holistic patient management.

Background: Intraventricular tumors represent a minority in the context of brain tumors, but their surgical treatment is particularly complex due to their vascularization and visualization, especially in deep localization. The characteristics of these tumors make them ideal candidates for minimally invasive surgical strategies such as the tubular retractor technique, above all in the elderly population. Objectives: A 1-year multi-center, retrospective case series was performed: the authors describe their preliminary experience using a neuronavigated tubular retractor in the management of 11 cases of intraventricular meningiomas. Methods: Clinical and radiological findings were examined to define the outcomes. We used an alternative tubular retractor system obtained using a modified preexisting general surgery trocar (ENDOPATH XCEL 15 mm trocar) or the NICO System BrainPath. Results: Gross total resection, defined as the removal of all the tumor visible from the brain scans, was achieved in all cases. Ten out of eleven of the patients did not experience major complications or permanent neurological deficits. Four patients presented transitory post-operative agitation, visual blurring and transient hemiparesis. All patients (mean age 72.6 years) were discharged from the hospital in 5–7 days. Conclusions: Our preliminary experience suggests that the use of navigated tubular retractors, by displacing the fibers and hence minimizing the damage to the surrounding cerebral parenchyma, is feasible and safe, representing a minimally invasive technique for a personalized and patient-tailored approach. The use of the selective ultrasonic aspirator makes it possible to excise the tumor through the narrow corridor of the tubular lumen of around 2 cm, and this technique can also be improved using both endoscope and microscope guidance.

Background/Objectives: Cardiac arrhythmias are among the leading causes of sudden cardiac death (SCD). Pathogenic variants in potassium channel genes play a key role in inherited arrhythmia syndromes, yet their contribution in Central Asian populations remains poorly characterized. Methods: We performed targeted next-generation sequencing (NGS) using a 96-gene custom Haloplex panel in 79 Kazakhstani patients with clinically diagnosed arrhythmias, including atrioventricular block, sick sinus syndrome, and atrial fibrillation. Detected variants in potassium channel genes were classified according to ACMG guidelines and correlated with clinical phenotypes. Results: A total of 52 variants were identified across 11 potassium channel genes. Two likely pathogenic variants (KCNH2 p.Cys66Gly and p.Arg176Trp) and six variants of uncertain significance (VUS) in KCNQ1, KCNE2, KCNE3, and KCNJ8 were detected. Two novel previously unreported variants were found in KCNE5 and KCND3. Patients harboring pathogenic variants commonly presented with early-onset arrhythmias or a positive family history of cardiovascular disease. Carriers of KCNH2 variants exhibited mild QT prolongation and recurrent syncope. Conclusions: This is the first genetic study of potassium channel gene mutations in Kazakhstani patients with cardiac arrhythmias. The detection of pathogenic and novel variants highlights the clinical utility of integrating genetic testing into diagnostic and management pathways for arrhythmia syndromes. Population-specific genomic data are essential for improving risk stratification, guiding medication safety, and enabling cascade family screening in Central Asia.