Policlinico Casilino

Adherence to guideline recommendations for secondary prevention appears to be inadequate, even in cardiology centers. To narrow the gap between guideline recommendations and what is implemented in clinical practice, we designed the BRING-UP Prevention project. BRING-UP Prevention is a nationwide, observational, prospective, multicenter study enrolling patients with a prior atherothrombotic event. The study consists of two 3-month enrolment phases followed by a 6-month follow-up, with each phase preceded by an educational intervention. Data presented here mainly focus on the percentage of patients at goal for LDL-cholesterol (LDL-C) (<55 mg/dL) at the 6-month follow-up in the recently completed first enrollment phase. Secondary endpoints are blood pressure, glycemic and weight control and smoke cessation. Over 3 months, 189 cardiology centres recruited 4790 patients. Follow-up data at 6 months were available for 4643 patients (97%) and LDL-C was available for 4334 of them. The rate of patients with LDL-C <55 mg/dL increased from 33% to 58.1%, with absolute and relative increases of 25.1% and 76.1%, respectively. At 6 months 94.9% of patients were prescribed on statins. Atorvastatin and rosuvastatin were the most prescribed statins, mostly at high doses. Ezetimibe was prescribed in 84% of cases. PCSK9i monoclonal antibodies and inclisiran were prescribed in 8.3% of patients. BRING-UP Prevention achieved its primary goal to increase the percentage of patients at LDL-C goal, demonstrating that, in many patients, this goal can be achieved increasing the use of low-cost therapies.

Introduction. Physician-patient communication is a pivotal element in the management of chronic kidney disease (CKD), yet it is sometimes reduced to a mere transmission of information. Ineffective communication undermines therapeutic adherence, delays clinical decision-making, and negatively impacts patients' quality of life. Methods. We conducted a panoramic review of the literature, with a specific focus on nephrology context, examining how various aspects (communication barriers, patient expectations, use of multimedia tools, digital self-monitoring) affect clinical outcomes and can transform from critical issues into resources for improving the therapeutic alliance and adherence. Results. Evidence shows that: (1) physician-patient communication, expectations, and genuine understanding directly influence clinical outcomes; (2) digital tools such as educational/storytelling videos, online platforms, institutional social media channels, and dedicated apps improve health literacy and patient engagement; (3) self-monitoring and smart devices can help strengthen awareness and foster the doctor-patient relationship, even remotely; (4) therapeutic adherence can be significantly improved through empathetic and shared care relationships, including through digital media, countering misinformation and mistrust. Conclusions. Innovating communication in nephrology requires moving beyond the traditional information-delivery model, embracing narrative and digital approaches, and recognizing communication as a fully-fledged therapeutic intervention.

To evaluate the diagnostic accuracy of maternal characteristics, computerized cardiotocography (cCTG), maternal hemodynamics, and fetal Doppler in predicting adverse perinatal outcomes (APO) in healthy term pregnancies before laboronset. In this prospective observational study, 395 term pregnant women were enrolled. Data on obstetric history, cCTG, maternal hemodynamics, and fetal ultrasound were collected. Women undergoing labor induction were excluded. The primary endpoint was a composite APO, defined as cesarean or operative vaginal delivery due to pathological CTG, 5-min Apgar <7, umbilical artery pH<7.1 and/or base excess >12 mmol/L, or NICU admission. A secondary outcome, "objective APO", excluded operative delivery for pathological CTG. Logistic regression analyses were performed to assess predictors ofAPO. Among 307 women with spontaneous labor, 41 (13.36 %) experienced a composite APO. These women were less often multiparous (7.32 vs. 27.07 %, p=0.01), had higher systemic vascular resistance [SVR: 1,353 (1,209-1,498) vs. 1,249 (1,071-1,438) dyn s cm-5, p=0.01], and lower short-term variability [STV: 7.5 (6.2-10.0) vs. 9.1 (7.6-11.0) ms, p<0.01]. Fetal Doppler indices, including cerebro-placental ratio, showed no significant differences. ROC analysis identified SVR >1,135 dyn s cm-5 (OR 6.92, 95 % CI 2.08-23.03) and STV≤7 ms (OR 3.95, 95 % CI 1.97-7.92), as optimal predictors. Multivariate analysis confirmed STV, SVR, and parity as independent predictors. In the secondary analysis of "objective APO", both SVR and STV remained significant predictors, and the multivariable model demonstrated excellent discrimination [AUC 0.931 (95 % CI 0.896-0.957)]. In term pregnancies, maternal hemodynamic assessment and cCTG performed before labor may improve the identification of women at increased risk ofAPO.

This study aimed to investigate the influence of cup positioning accuracy of two different cup impactors handled by two surgeons with different levels of total hip replacement surgery experience.This was a cadaveric study (n = 20). A standard and a new prototype Kyon impactor were used by two surgeons (beginner and senior) to impact 80 prosthetic cups in 40 canine normal acetabula. The angle of lateral opening, angle of cup retroversion, and their corresponding deviations from the ideal postoperative values were measured using radiographic imaging to evaluate the accuracy of cup positioning.The accuracy of cup positioning was not affected by the type of impactor used by the senior surgeon. For the beginner surgeon, the standard impactor was associated with a significantly higher mean error (3.9 ± 6.5 degrees) and mean value (48.90 ± 6.5 degrees) for the angle of lateral opening compared with the prototype impactor that showed a lower mean error (-1.8 ± 6.3 degrees) and mean values (43.20 ± 6.34 degrees) closer to the ideal value of 45 degrees. No significant differences were found between the standard impactor and the prototype regarding the accuracy of the angle of cup retroversion.The new features of the prototype impactor and its improved handling can assist inexperienced surgeons in achieving a more accurate angle of lateral opening compared with the standard impactor. In contrast, the accuracy of the cup retroversion angle appears to be more closely related to the surgeon's experience rather than the type of impactor used.

Sudden cardiac death represents an unexpected death for which a strong underlying genetic background has been described. The primary causes are identified in cardiomyopathies and channelopathies, which are heart diseases of the muscle and electrical system, respectively, without coronary artery disease, hypertension, valvular disease, and congenital heart malformations. Genetic variants, especially single nucleotide variants and short insertions/deletions impacting essential myocardial functions, have shown that cardiomyopathies display high heritability. However, genetic heterogeneity, incomplete penetrance, and variable expression may complicate the interpretation of genetic findings, thus delaying the management of seriously at-risk patients. Moreover, recent studies show that the diagnostic yield related to genetic cardiomyopathies ranges from 28 to 40%, raising the need for further research. In this regard, investigating the occurrence of structural variants, especially copy number variants, may be crucial. Based on these considerations, this review aims to provide an overview of copy number variants identified in cardiomyopathies and discuss them, considering diagnostic yield. This review will ultimately address the necessity of incorporating copy number variants into routine genetic testing for cardiomyopathies and channelopathies, a process increasingly enabled by advances in next-generation sequencing technologies.

There is evidence that some Hereditary Spastic Paraplegia (HSP) genes are linked to Amyotrophic Lateral Sclerosis (ALS). In particular, KIF5A and SPG11 genes, which cause two different forms of HSP, are also associated with adult-onset and Juvenile ALS, respectively. To study the frequencies of pathogenetic and likely pathogenetic variants in HSP genes in ALS patients and to determine whether they act as predisposing factors. We analysed 72 HSP-associated genes in 1024 ALS and 44 Primary Lateral Sclerosis patients and applied customized ACMG criteria to identify pathogenic and likely pathogenic variants. Based on the frequency of identified variants, six genes, including SPG7, SPG11 and the four genes encoding the subunits of the AP4 adaptor protein, were selected for analysis in an additional cohort of 481 ALS patients. Overall results on 1549 patients were compared with 1138 controls. The frequency of variants in SPG7 gene was 0.45% (7/1549) in patients vs 0.18% (2/1138) in controls (p = 0.19), in SPG11 was 0.77% (12/1549) in cases and 0.26% (3/1138) in controls (p = 0.06), in AP4 genes was 0.64% (10/1549) in patients and 0.26% (3/1138) in controls (p = 0.13). The total number of variants detected across SPG7, SPG11 and AP4 genes was statistically different between patients and controls (1.87% vs 0.7%; p = 0.006). We found a significant enrichment of variants in a set of HSP genes, including SPG7, SPG11 and AP4 genes, in a large cohort of ALS patients, suggesting that they may act as predisposing factors for ALS.