The Current Practice of Lynch Syndrome Diagnosis and Management in Italy: A Qualitative Assessment.

BACKGROUND: Lynch syndrome (LS) is the most frequent form of hereditary colorectal cancer (CRC; up to 3-5% of the total CRC burden) and predisposes to the development of other cancers. Multidisciplinary diagnostic strategies are relevant both to the index cases and to their at-risk relatives, but their implementation is still limited. Our study aimed to explore LS testing practices in Italy. METHODS: In order to ascertain the current practice of LS diagnosis and management, we conducted a qualitative assessment by sending a questionnaire to health care professionals at 4 Italian hospitals selected as "models" representing different hospital settings. Based on the surveys, we reconstructed the management pathways for CRC patients in terms of diagnostic strategies and health professionals involved. RESULTS: Seven of the 8 invited professionals filled in the questionnaire. Noncompliance with the latest guidelines was reported, as no tumor "screening" was performed on CRC cases. The lack of a structured multidisciplinary team who manages CRC patients from risk assessment to diagnosis and follow-up was reported. The availability of professionals and laboratory technologies differ widely between hospitals. As for cascade testing of at-risk relatives, a systematic and active approach was absent in all the considered hospitals. CONCLUSIONS: Our study shows that no structured and standardized pathways for the diagnosis and management of LS patients are currently in place in Italy. We envisage that by extending our research to further experiences and countries, an increasing awareness of the topic can be translated into a health gain for hereditary CRC patients and their at-risk relatives.

Hemodynamic assessment of Perceval sutureless bioprosthesis by dobutamine stress echocardiography.

OBJECTIVES: The aim of this study was to evaluate the hemodynamic performance of a sutureless bioprosthesis under high workload at mid-term follow-up. METHODS: Thirty-two patients who underwent isolated aortic valve replacement with a Perceval sutureless bioprosthesis with a minimum follow-up of 1 year were enrolled in this study. S size prosthesis was deployed in 10 patients (31.3%), M size in 9 (28.1%), L size in 8 (25%) and XL size in 5 (15.6%). Effective orifice area (EOA), EOA index (EOAi), and transvalvular gradients were assessed at rest and during dobutamine stress echocardiography (DSE) a median of 19.5 months after surgery. RESULTS: Dobutamine stress echocardiography (DSE) significantly increased heart rate, stroke volume, ejection fraction, and transvalvular gradients (peak gradient, 24.0 ± 7.6 vs 38.7 ± 13.6 mm Hg, P < .001; mean gradient, 12.6 ± 4.2 vs 19.8 ± 8.3, P < .001). When compared to baseline, estimated valve areas significantly increased at follow-up (EOA, 1.48 ± 0.46 vs 2.06 ± 0.67, P < .001; EOAi, 0.84 ± 0.26 vs 1.17 ± 0.37, P < .001). Mean percentage increase in EOAi was 40.3% ± 28.0%. S size prostheses had the highest increase in EOA1, but the difference was not significant (S 46.0% ± 27.5% vs M 45.4% ± 34.5% vs L 32.7% ± 26.4% vs XL 32.1% ± 20.5%, P = .66). Severe patient-prosthesis mismatch (EOAi ≤ 0.65 cm2 /m2 ) was present at rest in 8 patients (25%), but only in one patient (3.1%) during DSE. CONCLUSIONS: The Perceval sutureless bioprosthesis demonstrated good hemodynamics at rest and under high workload. The significant increase in EOAi during DSE suggests the potential advantages of Perceval sutureless bioprostheses in case of small aortic annulus or when patient-prosthesis mismatch is anticipated.