Archivio istituzionale della ricerca - Università dell'Insubria
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Adjunctive acetazolamide for drug‐resistant seizures in SLC6A1‐related neurodevelopmental disorder: An exploratory case series
Get PDFPathogenic variants in SLC6A1 cause a neurodevelopmental disorder characterized by developmental delay with behavioral disturbances, seizures, often pharmacoresistant, and a spectrum of movement disorders such as ataxia. A similar triad is observed in other monogenic conditions, such as SLC2A1, CHD2, and CACNA1A-related disorders, where acetazolamide (ACZ) has shown beneficial effects. We assessed the efficacy of ACZ as an adjunctive treatment in patients with SLC6A1-related neurodevelopmental disorder (SLC6A1-NDD) and drug-resistant seizures. We recruited patients with genetically confirmed pathogenic SLC6A1 variants and drug-resistant seizures treated with add-on ACZ. The medical records were reviewed to evaluate changes in seizure frequency and severity, and to document adverse events. Improvements in ataxia and social interaction were determined by clinical judgment together with caregiver reports. Six patients with a mean age of 7 years were included. The mean dose of ACZ was 16.2 mg/kg/day, and the mean treatment duration was 30 months. Three (50%) patients achieved full seizure remission, and the remaining three patients had a reduction in seizure frequency ranging from 50 to 90%. Except for weight loss in one patient, no serious adverse effects were reported. Three out of four patients with baseline ataxia showed improvement. Caregivers noted improvement in social interaction and school engagement in five out of six patients. ACZ may offer a promising therapeutic option for drug-resistant SLC6A1-related seizures. Prospective studies with larger cohorts and standardized outcome measures are necessary to confirm the efficacy and long-term safety of ACZ in this population. PLAIN LANGUAGE SUMMARY: Pathogenic SLC6A1 variants in children cause developmental delay with behavioral issues, seizures, and often ataxia. In six children with drug-resistant seizures, adjunctive acetazolamide (ACZ) led to seizure freedom in three and a 50-90% reduction in the others. Improvement in ataxia and behavior, with better social and school performances, was reported. One child had mild weight loss. These early findings suggest ACZ may be a safe, effective, and affordable option for SLC6A1-related neurodevelopmental disorder when standard treatments fail, warranting further study
Prognostic role of blood eosinophils in acute exacerbations of chronic obstructive pulmonary disease: systematic review and meta-analysis
No full text: Acute exacerbation of chronic obstructive pulmonary disease (AECOPD) is a major cause of hospitalization and mortality worldwide. While blood eosinophils have been suggested as a prognostic biomarker of COPD, their predictive value in AECOPD remains uncertain. This meta-analysis aims to evaluate the prognostic role of blood eosinophil counts in predicting mortality and hospital readmission in these patients. A systematic review and meta-analysis were conducted according to PRISMA guidelines. We included studies that evaluated the prognostic role of blood eosinophils in AECOPD, with predefined cut-offs. Data on mortality and readmission rates were extracted, and statistical analyses were performed to assess sensitivity, specificity, and likelihood ratios. A total of 14 studies with 23,625 patients were included. High blood eosinophil counts during AECOPD hospitalization had low sensitivity (28.1%) and specificity (66.2%) in predicting 12-month mortality and readmission. Positive and negative likelihood ratios were also suboptimal, with values of 0.8 and 1.1, respectively. Sensitivity analyses, including only high-quality studies, confirmed these findings. The results suggest that blood eosinophil counts have limited prognostic value in predicting mortality and readmission in AECOPD patients. The variability in eosinophil cut-offs and lack of consistent data across studies contribute to this limitation. Further large-scale prospective studies are needed to clarify the role of eosinophils as a prognostic marker in AECOPD. Consequently, routine measurement of blood eosinophils during acute exacerbations may not be warranted for prognostic purposes
Power seeking: un parallelo tra la ricerca di potere umana e dell'intelligenza artificiale
No full textEffect of immune checkpoint inhibitor therapy on biventricular mechanics in cancer patients over a short-term follow-up: a systematic review
No full textBackground: Immune checkpoint inhibitors (ICI) have demonstrated a survival benefit in various cancer types. A few numbers of imaging studies have recently measured myocardial strain parameters in cancer patients before and after ICI treatment, reporting not univocal results. This systematic review has been primarily designed to summarize the main findings of these studies and to examine the overall effect of ICI therapy on biventricular mechanics in cancer patients. Methods: All imaging studies evaluating the effect of ICI therapy on biventricular mechanics in cancer patients, selected from PubMed and EMBASE databases, were included. Imaging studies that analyzed myocardial strain parameters in highly selected cancer patients with ICI-related myocarditis were excluded. Relative change (RC) (%) from baseline of conventional and innovative indices of biventricular function was determined. Prevalence of cardiovascular complications was also assessed. Results: The full-texts of 12 studies with 554 ICI-treated cancer patients were analyzed. Myocardial strain parameters were measured by two-dimensional-speckle tracking echocardiography (STE) in seven studies, three-dimensional STE in two studies and cardiac magnetic resonance feature tracking in the remaining three studies. Average duration of follow-up was 3.1 months (range 0.5-7.3 months). All conventional indices of biventricular mechanics showed small and not statistically significant change after ICI treatment (RC ranging between -6.9 and +4.8%). Conversely, average left ventricular (LV)-global longitudinal strain (GLS), LV-global circumferential strain, LV-global radial strain, left atrial reservoir strain, right ventricular (RV)-GLS, RV-free wall longitudinal strain and right atrial reservoir strain were significantly worsened after ICI treatment (RC ranging between -9 and -19.2%). A definite cancer therapy-related cardiac dysfunction (CTRCD) was detected in 28.3% of ICI-treated patients (range 19.4-38.1%). The pooled prevalence of acute ICI-related myocarditis was 0.8% (range 0-4.6%) over follow-up period. Three out of seven ICI-related myocarditis patients (42.8%) were diagnosed with fulminant acute myocarditis. Conclusions: ICI treatment causes a significant deterioration of biventricular mechanics, early diagnosed by strain imaging methods. Myocardial strain parameters are more sensitive than conventional indices of systolic function for the early detection of subclinical ICI-related cardiotoxicity. Systematic review registration: https://www.crd.york.ac.uk/prospero/, identifier INPLASY202490131
Multicentric castleman disease with splenic presentation: report of two rare cases with focus on histopathological features and review of the literature
No full textCastleman disease (CD) is a rare, heterogeneous, lymphoproliferative disorder that typically involves lymph nodes or, less commonly, extranodal sites such as the spleen. Based on clinical presentation CD is categorized into unicentric (UCD) and multicentric (MCD) forms, the latter further classified into HHV8-related, POEMS-associated, and idiopathic forms. We report two cases of HHV8-related MCD diagnosed on splenectomy specimens from patients presenting with splenomegaly, lymphadenopathies, and B symptoms. Histopathological analysis revealed mixed hyaline-vascular and plasma cell patterns with HHV8-positive lymphoid cells, and, in one case, an associated Kaposi sarcoma in splenic hilum lymph nodes. A systematic review of the literature identified 27 additional cases of CD diagnosed on splenectomy, which were analyzed alongside our two cases. Our study highlights that histologic evaluation of spleen tissue reliably reflects nodal CD patterns in both unicentric and multicentric forms and that, in selected cases, splenectomy remains a valuable diagnostic tool in Castleman disease
Atomistic Insights into Halide Double Perovskite Nanocrystals obtained by Multistep Synthesis and Efficient Compositional Engineering
No full textLead-free halide double perovskites (HDP), particularly those within the Cs2B+InCl6 family that show a direct band gap, have recently emerged as promising semiconductors to address key challenges associated with lead-based perovskites, such as toxicity and instability in air and moisture. Their compositional flexibility, structural versatility, and ease of cation transmutation offer considerable potential for bandgap engineering. Here, we present a versatile, multistep, solution-based synthetic strategy for HDP nanocrystals. This method separates the precursor dissolution and reaction stages, providing much greater control over the synthesis. The flexibility of this approach makes it widely generalizable and highly adaptable to high-throughput flow chemistry techniques, including multifluidic platforms and (semi)automated frameworks (e.g., self-driving or automated laboratories). Here, we demonstrate that stable Cs2(Na,Ag)InCl6 and Cs2(Na,K)InCl6 HDP compositions can be readily obtained through this approach. Through state-of-the-art atomic-scale experimental and theoretical characterization, we provide insights into the evolution of chemical bonding upon Na+/Ag+ substitution into the Cs2(Na,Ag)InCl6 series. Finally, we investigate the limited miscibility of K+ within the NaCl6 sublattice of Cs2(Na,K)InCl6, which can be ascribed to the distorted pentagonal bipyramidal coordination adopted by K+, as observed in the endmember Cs2KInCl6 composition. All together, these fundamental structural findings serve as a basis for the interpretation of the optical properties of the HDP nanocrystals developed in this work. By combining spectral and structural evidence, we investigate the origins of their absorption and emission properties, with general applicability to similar HDP compositions
Eosinophils in chronic obstructive pulmonary disease
No full textChronic Obstructive Pulmonary Disease (COPD) is a heterogeneous lung condition characterised by chronic respiratory symptoms, fixed airway obstruction and persistent inflammation that leads to a progressive airflow limitation. Although COPD has traditionally been linked to neutrophilic inflammation, recent studies have identified a subset of patients – approximately 20%–40% – with elevated eosinophil levels in blood and sputum. Emerging evidence suggests that eosinophilic inflammation has a pivotal role in a subset of COPD patients and may influence disease progression, exacerbation frequency and therapeutic responses. This narrative review provides a comprehensive analysis of the role of eosinophils in COPD with particular attention to their role as biomarkers in blood and sputum. We evaluate the prevalence of eosinophilic inflammation in COPD exanimating different thresholds used in blood and in sputum to define it. In addition, we focus on eosinophilic COPD phenotype as a treatable trait, emphasising recent evidence that supports the effectiveness of biological target therapy
Evolving medical management of erectile dysfunction: recommendations from the Fifth International Consultation on Sexual Medicine (ICSM 2024)
No full textIntroduction: Treatment of erectile dysfunction is based on pharmacotherapy for most patients. Aim To review the current data on pharmacotherapy for erectile dysfunction based on efficacy, psychosocial outcomes, and safety outcomes. Methods: A review of the literature was undertaken by the committee members. All related articles were critically analyzed and discussed, and consensus statements were developed after presentation at the 2024 ICSM. Results: Eight recommendations are provided with the corresponding level of evidence and grade of recommendation. Conclusions: The management of erectile dysfunction should be personalized to address the psychosocial needs and expectations of both the patient and their partner. PDE5 inhibitors remain the first-line treatment for most men, while intracavernosal injections, vacuum erection devices, and penile prostheses serve as second-line options, with treatment decisions guided by patient preferences. Key recommendations are summarized in table 1
Attraversamenti, spazio pubblico e CCTV. Surveillance Art e resilienza femminile
No full textIl presente contributo vuole esplorare il tema della viandanza urbana e, in particolare, interrogarsi sulla posizione del soggetto femminile e sulle pratiche di svelamento e resistenza messe in atto verso l’occhio macchinico delle videocamere di sorveglianza. Muovendoci nel delimitato perimetro della Surveillance Art, metteremo a tema il ruolo delle videocamere di sorveglianza nello spazio pubblico, convocando gli interventi che più hanno promosso una prospettiva critica1, e prediligendo l’autorialità femminile
