Comment on 'Cancer genetic counselling' by P. Mandich et al.

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Magna Graecia transcatheter aortic valve implantation registry: data on contrast medium osmolality and postprocedural acute kidney injury

A comprehensive description of baseline characteristics, procedural features and outcomes related to the development of acute kidney injury (AKI) after transcatheter aortic valve implantation (TAVI) is reported in our research paper (Impact of contrast medium osmolality on the risk of acute kidney injury after transcatheter aortic valve implantation: insights from the Magna Graecia TAVI registry. Int J Cardiol. DOI: 10.1016/j.ijcard.2020.12.049). Three Italian heart centers were involved in this multicentric observational study. Between March 2011 and February 2019, a total of 888 patients underwent TAVI; according to the inclusion and exclusion criteria, 697 patients were included in the post-hoc analysis. This Data in Brief paper aims to report demographic, clinical, laboratory, echocardiographic, intraprocedural, periprocedural, postprocedural and follow-up data; all of them were prospectively collected from each patient's health record, whereas the analysis was performed retrospectively. Targets of this data analysis were: 1) to evaluate the impact of contrast medium (CM) osmolality on TAVI-related AKI; 2) to identify the most of risk factors involved in the development of such complication, and consequently in the occurrence of 1-year mortality; 3) to estimate the impact of CM osmolality on AKI in specific patient subgroups

BRCA1 and BRCA2 mutations in central and southern Italian patients.

Protein truncation test (PTT) and single-strand conformation polymorphism (SSCP) assay were used to scan the BRCA1 and BRCA2 genes in 136 unrelated Italian breast/ovarian cancer patients. In the sample tested, BRCA1 and BRCA2 equally contributed to site-specific breast cancer patients who reported one to two breast cancer-affected first-/ second-degree relative(s) or who were diagnosed before age 40 years in the absence of a family history of breast/ovarian cancer. BRCA1 and BRCA2 mutations were mostly found in patients with disease diagnosis before and after age 50 years, respectively. Moreover, in cases with familial clustering of site-specific breast cancer, BRCA1 mostly accounted for tumours diagnosed before age 40 years and BRCA2 for tumours diagnosed after age 50 years. The BRCA1 and BRCA2 mutation spectrum was consistent with a lack of significant founder effects in the sample of patients studied

An oncologist-based model of cancer genetic counselling for hereditary breast and ovarian cancer

Background: We describe a multistep model of cancer genetic counselling designed to promote awareness, and disease surveillance and preventive measures for hereditary and familial breast and ovarian cancer. Patients and methods: Step T0 of the model entails information giving; this is followed by pedigree analysis and risk estimation (T1), risk communication and genetic testing (T2), and genetic test result communication (T3). User consent was required to proceed from one step to the next. Surveillance and preventive measures are proposed to at-risk users. Of the 311 subjects who requested cancer genetic counselling, consent data to each counselling step were available for 295: 93 were disease-free, 187 had breast cancer, 12 had ovarian cancer and three had breast plus ovarian cancer. Results: Consent was high at T0 (98.39%), T1 (96.40%) and T2 (99.65%). Consent decreased at the crucial points of counselling: T2 (87.71%) and T3 [genetic test result communication (85.08%), and extension of counselling to and testing of relatives (65.36%)]. Conclusions: The model fosters the user's knowledge about cancer and favours identification of at-risk subjects. Furthermore, by promoting awareness about genetic testing and surveillance measures, the algorithm enables users to make a fully informed choice of action in case of predisposing or familial cancer risk

Impact of contrast medium osmolality on the risk of acute kidney injury after transcatheter aortic valve implantation: insights from the Magna Graecia TAVI registry

Background: Acute kidney injury (AKI) after transcatheter aortic valve implantation (TAVI) is frequent and associated with adverse outcomes and mortality; to date, in such setting of patients there is no consistent evidence that either low-osmolar contrast media (LOCM) or iso‐osmolar contrast medium (IOCM) are superior to the other in terms of renal safety. Methods: 697 consecutive patients not in hemodialysis treatment who underwent TAVI (327 males, mean age 81.01 ± 5.75 years, mean european system for cardiac operative risk evaluation II 6.17 ± 0.23%) were enrolled. According to osmolality of the different iodinated CM, the population was divided in 2 groups: IOCM (n = 370) and LOCM group (n = 327). Preoperatively, 40.54% of patients in IOCM vs 39.14% in LOCM group (p = 0.765) suffered from chronic kidney disease (CKD). Results: The incidence of AKI was significantly lower with IOCM (9.73%) than with LOCM (15.90%; p = 0.02), and such significant difference (p < 0.001) in postprocedural change of renal function parameters persisted at discharge too. The incidence of AKI was also significantly lower with IOCM in younger patients, without diabetes, anemia, coronary artery disease history, CKD, chronic or persistent atrial fibrillation, left ventricular ejection fraction ≤35%, and in patients with low operative mortality risk scores, receiving lower amounts of dye (p < 0.05 for all). Importantly, multivariate analysis identified LOCM administration as an independent risk factor for both AKI (p = 0.006) and 1-year mortality (p = 0.001). Conclusions: The use of IOCM have a favorable impact on renal function with respect to LOCM, but it should be considered especially for TAVI patients at lower AKI risk

Spontaneous Abdominal Wall Hematoma Treated with Percutaneous Transarterial Embolization: Diagnostic Findings, Procedural Outcome, and Efficacy—A Multicenter Study

Endovascular management of abdominal wall hematomas (AWHs) is now the primary treatment option in hemodynamically stable patients, and it is often preferred to surgical interventions. The purpose of this multicentric study was to assess the safety, technical, and clinical success of percutaneous transarterial embolization (PTAE) of spontaneous AWHs to evaluate the efficacy of blind or empiric embolization compared to targeted embolization and to compare the outcome of the endovascular treatment approach in patients affected by COVID-19 and non-COVID-19 patients. We retrospectively enrolled 112 patients with spontaneous AWHs who underwent PTAE, focusing on signs of bleeding at pre-procedural CTA and DSA. Patients were separated into two groups depending on whether a blind or targeted embolization approach was used. We also divided patients into COVID-19 and non-COVID-19 groups. The mean age of the study population was 68.6 ± 15.8 years. CTA and DSA revealed signs of active bleeding in 99 and 88 patients, respectively. In 21 patients, blind embolization was performed. The overall technical success rate was 99%. Clinical success was obtained in 96 patients (86%), while 16 (14%) re-bled within 96 h. One patient reported a major peri-procedural complication. The comparison between blind and targeted embolization approaches showed no statistically significant differences in the characteristics of groups and technical and clinical success rates. No significant differences were found in the procedural outcome between COVID-19 and non-COVID-19 groups. Our study confirmed that PTAE is effective for treating spontaneous AWHs, even in COVID-19 patients. It suggests that the efficacy and safety of blind embolization are comparable to targeted embolization