Diffuse Supravalvular Aortic Stenosis: Surgical Repair in Adulthood

We present the case of a 54-year-old woman in which a diffuse congenital supravalvular aortic stenosis (SVAS) was associated with a severe aortic valve incompetence and heavy calcification of the aortic annulus. Repair consisted in resection of the ascending aorta, patch augmentation of the hypoplastic aortic root and annulus, placement of a 20 mm Dacron tubular graft (Vascutek, Renfrewshire, UK) and aortic valve replacement with a mechanical prosthesis (Sorin, Turin, Italy). Follow-up echocardiography demonstrated normal prosthetic valve function and a postoperative three-dimensional computed tomographic scan showed a normal shape of the reconstructed ascending aorta

Aorto–left atrial fistula, the role of transesophageal echocardiography: a case report.

Endocarditis represents a major complication of prosthetic heart valves, with estimated mortality rates of 50% to 80% even with appropriate therapy. Prosthetic endocarditis occurs in approximately 2%– 4% of patients, mainly in the first months after surgery

Aorto-left atrial fistula, the role of transesophageal echocardiography: a case report

A 73 woman with a history of replacement of heart valves (mitro-aortic replacement with biological prosthesis about a year before) was referred for surgical evaluation for a progressive worsening of fatigue and dyspnea and for low-grade fever in the evening. She was diabetic and with rheumatoid arthritis on treatment with corticosteroids. She had a history of previous duodenal ulcer, hysterectomy and splenectomy

PATZ1 acts as a tumor suppressor in thyroid cancer via targeting p53-dependent genes involved in EMT and cell migration

PATZ1, a POZ-Zinc finger protein, is emerging as an important regulator of development and cancer, but its cancer-related function as oncogene or tumor-suppressor is still debated. Here, we investigated its possible role in thyroid carcinogenesis. We demonstrated PATZ1 is down-regulated in thyroid carcinomas compared to normal thyroid tissues, with an inverse correlation to the degree of cell differentiation. In fact, PATZ1 expression was significantly further down-regulated in poorly differentiated and anaplastic thyroid cancers compared to the papillary histotype, and it resulted increasingly delocalized from the nucleus to the cytoplasm proceeding from differentiated to undifferentiated thyroid carcinomas. Restoration of PATZ1 expression in three thyroid cancer-derived cell lines, all characterized by fully dedifferentiated cells, significantly inhibited their malignant behaviors, including in vitro proliferation, anchorage-independent growth, migration and invasion, as well as in vivo tumor growth. Consistent with recent studies showing a role for PATZ1 in the p53 pathway, we showed that ectopic expression of PATZ1 in thyroid cancer cells activates p53-dependent pathways opposing epithelial-mesenchymal transition and cell migration to prevent invasiveness. These results provide insights into a potential tumor-suppressor role of PATZ1 in thyroid cancer progression, and thus may have potential clinical relevance for the prognosis and therapy of thyroid cancer

An atypical pseudoaneurysm as complication of prosthetic aortic-valve endocarditis

Endocarditis of a prosthetic heart valve is a life-threatening condition that is associated with high morbidity and mortality. Perivalvular extension in infective endocarditis includes complications such as periannular or intramyocardial abscesses, pseudoaneurysms and fistulae. The incidence of perivalvular extension ranges from 10 to 30% in native valve endocarditis and 30 to 55% in prosthetic aortic-valve endocarditis. Herein, we describe a case of a 66-year-old man who presented endocarditis of a prosthetic aortic valve complicated by infective pseudoaneurysm with localization next to the right coronary sinus of Valsalva. Moreover, we underscore the importance of the diagnostic imaging tools options and surgical timing

Hashimoto's thyroiditis predicts outcome in intrathyroidal papillary thyroid cancer

Hashimoto's thyroiditis (HT) seems to have favourable prognostic impact on papillary thyroid cancer (PTC), but data were obtained analyzing all disease stages. Given that HT-related microenvironment involves solely the thyroid, we aimed to assess relationship between HT, as detected through pathological assessment, and outcome in intrathyroidal PTC. This was a multicenter, retrospective, observational study including 301 PTC with no evidence of extrathyroidal disease. Primary study endpoint was the rate of clinical remission. Auxiliary endpoint was recurrence-free survival (RFS). HT was detected in 42.5% of the cohort and was associated to female gender, smaller tumour size, lower rate of aggressive PTC variants, and less frequent post-surgery radio-iodine administration. HT showed relationship with significantly higher rate of clinical remission (p<0.001, OR 4, 95% CI 1.78-8.94). PTCs with concomitant HT had significantly longer RFS, as compared with non-HT tumours (p=0.004). After adjustement for other parameters affecting disease outcome at univariate analysis (age at diagnosis, histology, tumour size, and multifocality), prognostic effect of HT remained significant (p=0.006, OR 3.28, 95% CI 1.39-7.72). Nevertheless, assessment of HT accuracy as prognostic marker showed poor capability of identifying patients with unfavourable outcome (negative predictive value of clinical remission was 21.05, 95% CI 18.2-24.22). Our data show that HT represents an independent prognostic parameter in intrathyroidal PTC, but cannot improve prognostic specificity

Germline polymorphisms of the VEGF-pathway predict recurrence in non-advanced differentiated thyroid cancer

Context: Tumor angiogenesis is determined by host genetic background rather than environment. Germline single nucleotide polymorphisms (SNPs) of the vascular endothelial growth factor (VEGF) pathway have demonstrated prognostic value in different tumors. Objectives: Our main objective was to test the prognostic value of germline SNPs of the VEGF pathway in nonadvanced differentiated thyroid cancer (DTC). Secondarily, we sought to correlate analyzed SNPs with microvessel density (MVD). Design: Multicenter, retrospective, observational study. Setting: Four referral centers. Patients: Blood samples were obtained from consecutive DTC patients. Genotyping was performed according to the TaqMan protocol, including 4 VEGF-A (-2578C>A, -460T>C, +405G>C, and +936C>T) and 2 VEGFR-2 (+1192 C>T and +1719 T>A) SNPs. MVD was estimated by means of CD34 staining. Outcome measures: Rate of recurrent structural disease/disease-free survival (DFS). Difference in MVD between tumors from patients with different genotype. Results: Two hundred four patients with stage I-II DTC (mean follow-up, 73 ± 64 months) and 240 patients with low- to intermediate-risk DTC (mean follow-up, 70 ± 60 months) were enrolled. Two "risk" genotypes were identified by combining VEGF-A SNPs -2578 C>A, -460 T>C, and +405 G>C. The ACG homozygous genotype was protective in both stage I-II (odds ratio [OR], 0.08; 95% confidence interval [CI], 0.01 to 1.43; P = 0.018) and low- to intermediate-risk (OR, 0.14; 95% CI, 0.01 to 1.13; P = 0.035) patients. The CTG homozygous genotype was significantly associated with recurrence in stage I-II (OR, 5.47; 95% CI, 1.15 to 26.04; P = 0.018) and was slightly deleterious in low- to intermediate-risk (OR, 3.39; 95% CI, 0.8 to 14.33; P = 0.079) patients. MVD of primary tumors from patients harboring a protective genotype was significantly lower (median MVD, 76.5 ± 12.7 and 86.7 ± 27.9, respectively; P = 0.024). Conclusions: Analysis of germline VEGF-A SNPs could empower a prognostic approach to DTC

CXCR4/CXCL12/CXCR7 axis is functional in neuroendocrine tumors and signals on mTOR

To evaluate the possible crosstalk between C-X-C chemokine receptor 4 (CXCR4)/C-X-C motif chemokine 12 (CXCL12)/C-X-C chemokine receptor 7 (CXCR7) axis with the mammalian target of rapamycin (mTOR) pathway in neuroendocrine tumors (NETs)