Genetic profiling using plasma-derived cell-free DNA in therapy-naïve hepatocellular carcinoma patients: a pilot study.

Background: Hepatocellular carcinomas (HCCs) are not routinely biopsied, resulting in a lack of tumor materials for molecular profiling. Here we sought to determine whether plasma-derived cell-free DNA (cfDNA) captures the genetic alterations of HCC in patients who have not undergone systemic therapy. Patients and methods: Frozen biopsies from the primary tumor and plasma were synchronously collected from 30 prospectively recruited, systemic treatment-naïve HCC patients. Deep sequencing of the DNA from the biopsies, plasma-derived cfDNA and matched germline was carried out using a panel targeting 46 coding and non-coding genes frequently altered in HCCs. Results: In 26/30 patients, at least one somatic mutation was detected in biopsy and/or cfDNA. Somatic mutations in HCC-associated genes were present in the cfDNA of 63% (19/30) of the patients and could be detected 'de novo' without prior knowledge of the mutations present in the biopsy in 27% (8/30) of the patients. Mutational load and the variant allele fraction of the mutations detected in the cfDNA positively correlated with tumor size and Edmondson grade. Crucially, among the seven patients in whom the largest tumor was ≥5 cm or was associated with metastasis, at least one mutation was detected 'de novo' in the cfDNA of 86% (6/7) of the cases. In these patients, cfDNA and tumor DNA captured 87% (80/92) and 95% (87/92) of the mutations, suggesting that cfDNA and tumor DNA captured similar proportions of somatic mutations. Conclusion: In patients with high disease burden, the use of cfDNA for genetic profiling when biopsy is unavailable may be feasible. Our results support further investigations into the clinical utility of cfDNA in a larger cohort of patients.

Influence of calcium carbonate on extraction yield and quality of extra virgin oil from olive (Olea europaea L. cv. Coratina).

The aim of the research was to evaluate the effect of calcium carbonate (1%, 2%, and 4% of addition) at two different particle sizes (2.7µm and 5.7µm), added at the beginning of the malaxation phase, on both the extraction yield and the quality of oil obtained from Coratina olives at different ripening index. The results showed that calcium carbonate significantly increased the extraction yield of olive oil, more than affecting chemical indices. In particular, for less ripened olives, 1-2% of larger particle size calcium carbonate addiction determined a significant increase of the extraction effectiveness, ranging from 4.0 to 4.9%, while more ripened olives required higher amounts of coadjuvant (2-4% when using the larger particle size and 4% when using the smaller one), with a significant increase of the extraction yield up to 5%. Moreover, an increase of pungent perception was observed in some cases when adding calcium carbonate to more ripened olives.

BRCAness: a deeper insight into basal-like breast tumors.

The molecular scenario of breast cancer has become more complex in the last few years. Distinguishing between BRCA-associated, sporadic, HER2-enriched and triple-negative tumors is not sufficient to allow effective clinical management. Basal-like breast cancer, a subtype of triple-negative breast cancer, differs from others grouped under this heading. Commonalities between BRCA-related tumors and basal-like breast cancers (BRCAness phenotype) are highly relevant to ongoing clinical trials, in particular those investigating targeted therapies (e.g. PARP inhibitors) in sporadic breast tumors. The 'gold standard' to identify basal-like phenotype is DNA microarray, but integrated results could provide a panel of biomarkers helpful in identifying 'BRCAness' tumors (e.g. copy number aberrations, abnormal protein localization and altered transcriptional levels) and other molecular targets, such as APE1,the inhibition of which is emerging as an attractive breast cancer treatment in certain therapeutic settings.

Evaluation of the technological characteristics and bread-making quality of alternative wheat cereals in comparison with common and durum wheat.

The growing sensibility toward those foods that are characterized by natural and healthy features has raised the interest toward alternative wheat cereals. This research was carried out to compare the technological characteristics and the bread-making quality of Khorasan wheat, type Kamut and spelt (cv. Forenza), to those of common (cv. Rio) and durum wheat (cv. Norba). The results obtained show that both Forenza and Kamut gave an acceptable bread-making performance. A certain variability affected flour characteristics (protein content, carotenoid pigments and alveograph indices) over the 2 years of experimentation, due to environmental effects. This reflected on the corresponding breads but the statistical analysis indicated that, on the whole, Kamut bread was characterized by a high content of carotenoid pigments. Regarding sensory properties (profiled by means of 11 descriptors of visual appearance, texture, odor and flavor) and loaf volumes, breads from Forenza and Kamut appeared different from each other but similar to those obtained from Rio and Norba grown in the same environment, respectively.

Endovascular stent-graft treatment for diseases of the descending thoracic aorta.

OBJECTIVE: Assessment of endovascular stent-graft treatment for diseases of the descending thoracic aorta as a valid and effective alternative to surgery. METHODS: From March 1999 to August 2000, a total of 16 patients underwent deployment of endovascular stent-grafts in the descending thoracic aorta. Patients were divided into three groups according to the type of lesion. Group A (n=8) included five patients with atherosclerotic aneurysm and three with chronic post-traumatic pseudoaneurysm. Patients with acute post-traumatic pseudoaneurysm (n=3) and type B aortic dissection (n=5) were included in Groups B and C, respectively. All patients underwent 5-mm chest spiral angio-computerized tomography (CT) scan and angiography as preoperative assessment. The deployed stent-graft systems were Talent-Medtronic and Excluder-Gore. RESULTS: A total of 20 stent-grafts were placed. Two patients required deployment of two grafts, while three grafts were juxtaposed in a third patient in order to treat larger lesions. There was no mortality related to the procedure, although one patient (6.2%) died because of multiorgan failure 24h post-operatively. The placement of the graft was successful in all cases except one affected with type B dissection and characterized by a very large intimal flap, which was eventually fenestrated by graft guidewire. Therefore, an optimal sealing of the grafts was achieved in 15 patients. However, in one patient the descending aorta had to be surgically replaced because of the calcified pseudoaneurysm still compressing the trachea and left bronchus. Two patients required a left carotid-subclavian by-pass in order to achieve a sufficient neck for the proximal placement of the graft. No spinal cord injuries were observed. At the follow-up, performed with chest spiral angio-CT scan within 72 h and scheduled at 6 and 12 months and once a year, no stent-graft related complications have been detected. CONCLUSIONS: Endoluminal stent-graft treatment may represent a valid option in well-selected cases of descending thoracic aorta diseases. A longer follow-up in a larger series of patients is desirable to confirm these initial positive results.

Treatment of haemorrhage following rupture of aortic leiomyosarcoma. Survival for 4.2 years.

This paper describes a case of hemorrhage from an aortic leiomyosarcoma in which the patient exceptionally survived for 4.2 years after surgery. The operation consisted of resection of the aortic tract involved by the tumour and graft of a prosthesis. The diagnosis of aortic leiomyosarcoma had been based on the histological analysis and confirmed by histochemical and immunohistochemical findings.

The surgical treatment of vascular and gastrointestinal implications in Behçet disease. Report of four cases.

This study reports 4 cases of Behçet Syndrome which came under our observation and were surgically treated for vascular or gastrointestinal manifestations. These cases included 3 males and 1 female, mean age 26.5 years, of which 2 were treated with implantation of prosthesis for aneurysm of the abdominal aorta with recurrence of Behçet vasculitis and prosthesis substitution three years later in one case, 1 with total colectomy for ulcerous rectocolitis, while the last case (female) required excision and plastic reconstruction, for a perforated duodenal ulcer. Immediate and long-term results of the surgical treatment of the gastrointestinal and vascular manifestations and/or complications were satisfactory, whereas the long-term results of the medical treatment of the basic disease were unsuccessful in 50% of cases. BS is a rare affliction, whose pathogenesis is still poorly defined and in which the results of medical treatment cannot be regarded as satisfactory to date. Surgical treatment of its vascular and gastrointestinal manifestations and complications, on the other hand, was effective in our experience.