Dispersal of larval and juvenile seabream: Implications for Mediterranean marine protected areas

In the marine context, information about dispersal is essential for the design of networks of marine protected areas (MPAs). Generally, most of the dispersal of demersal fishes is thought to be driven by the transport of eggs and larvae in currents, with the potential contribution of dispersal in later life stages relatively minimal.Using otolith chemistry analyses, we estimate dispersal patterns across a spatial scale of approximately 180. km at both propagule (i.e. eggs and larvae) and juvenile (i.e. between settlement and recruitment) stages of a Mediterranean coastal fishery species, the two-banded seabream Diplodus vulgaris. We detected three major natal sources of propagules replenishing local populations in the entire study area, suggesting that propagule dispersal distance extends to at least 90. km. For the juvenile stage, we detected dispersal of up to 165. km. Our work highlights the surprising and significant role of dispersal during the juvenile life stages as an important mechanism connecting populations. Such new insights are crucial for creating effective management strategies (e.g. MPAs and MPA networks) and to gain support from policymakers and stakeholders, highlighting that MPA benefits can extend well beyond MPA borders, and not only via dispersal of eggs and larvae, but also through movement by juveniles

Follicular nodules (Thy3) of the thyroid: is total thyroidectomy the best option?

BACKGROUND: Identification of the best management strategy for nodules with Thy3 cytology presents particular problems for clinicians. This study investigates the ability of clinical, cytological and sonographic data to predict malignancy in indeterminate nodules with the scope of determining the need for total thyroidectomy in these patients. METHODS: The study population consisted of 249 cases presenting indeterminate nodules (Thy3): 198 females (79.5%) and 51 males (20.5%) with a mean age of 52.43 ± 13.68 years. All patients underwent total thyroidectomy. RESULTS: Malignancy was diagnosed in 87/249 patients (34.9%); thyroiditis co-existed in 119/249 cases (47.79%) and was associated with cancer in 40 cases (40/87; 45.98%). Of the sonographic characteristics, only echogenicity and the presence of irregular margins were identified as being statistically significant predictors of malignancy. 52/162 benign lesions (32.1%) and 54/87 malignant were hypoechoic (62.07%); irregular margins were present in 13/162 benign lesions (8.02%), and in 60/87 malignant lesions (68.97%). None of the clinical or cytological features, on the other hand, including age, gender, nodule size, the presence of microcalcifications or type 3 vascularization, were significantly associated with malignancy. CONCLUSIONS: The rate of malignancy in cytologically indeterminate lesions was high in the present study sample compared to other reported rates, and in a significant number of cases Hashimoto’s thyroiditis was also detected. Thus, considering the fact that clinical and cytological features were found to be inaccurate predictors of malignancy, it is our opinion that surgery should always be recommended. Moreover, total thyroidectomy is advisable, being the most suitable procedure in cases of multiple lesions, hyperplastic nodular goiter, or thyroiditis; the high incidence of malignancy and the unreliability of intraoperative frozen section examination also support this preference for total over hemi-thyroidectomy

Identification alone versus intraoperative neuromonitoring of the recurrent laryngeal nerve during thyroid surgery: experience of 2034 consecutive patients

Background: The aim of this study was to evaluate the ability of intraoperative neuromonitoring in reducing the postoperative recurrent laryngeal nerve palsy rate by a comparison between patients submitted to thyroidectomy with intraoperative neuromonitoring and with routine identification alone. Methods: Between June 2007 and December 2012, 2034 consecutive patients underwent thyroidectomy by a single surgical team. We compared patients who have had neuromonitoring and patients who have undergone surgery with nerve visualization alone. Patients in which neuromonitoring was not utilized (Group A) were 993, patients in which was utilized (group B) were 1041. Results: In group A 28 recurrent laryngeal nerve injuries were observed (2.82%), 21 (2.11%) transient and 7 (0.7%) permanent. In group B 23 recurrent laryngeal nerve injuries were observed (2.21%), in 17 cases (1.63%) transient and in 6 (0.58%) permanent. Differences were not statistically significative. Conclusions: Visual nerve identification remains the gold standard of recurrent laryngeal nerve management in thyroid surgery. Neuromonitoring helps to identify the nerve, in particular in difficult cases, but it did not decrease nerve injuries compared with visualization alone. Future studies are warranted to evaluate the benefit of intraoperative neuromonitoring in thyroidectomy, especially in conditions in which the recurrent nerve is at high risk of injury. Keywords: Neuromonitoring, Recurrent laryngeal nerve, Thyroidectom

Founder mutations in BRCA1 and BRCA2 genes

BRCA1 and BRCA2 germline mutations contribute to a significant number of familial and hereditary breast and/or ovarian cancers. The proportion of high-risk families with breast and/or ovarian cancer cases due to mutations in these tumor suppressor genes varies widely among populations. In some population, a wide spectrum of different mutations in both genes are present, whereas in other groups specific mutations in BRCA1 and BRCA2 have been reported with high frequency. Most of these mutations are prevalent in restricted populations as consequence of a founder effect. The comparison of haplotypes between families with the same mutation can distinguish whether high-frequency alleles derive from an older or more recent single mutational event or whether they have arisen independently more than once. Here, we review some of the most well-known and significant examples of founder mutations in BRCA genes found in European and non-European populations. In conclusion, the identification of the ethnic group of families undergoing genetic counseling enables the geneticist and oncologist to make more specific choices, leading to simplify the clinical approach to genetic testing carried out on members of high-risk families. Futhermore, the high frequency of founder mutations, allowing to analyze a large number of cases, might provide accurate information regarding their penetrance

High prevalence of BRCA1 deletions in BRCAPRO-positive patients with high carrier probability.

Mutation screening of the BRCA1 and BRCA2 genes in probands with familial breast/ovarian cancer has been greatly improved by the multiplex ligation-dependent probe amplification (MLPA) assay able to evidence gene rearrangements not detectable by standard screening methods. However, no criteria for selection of cases to be submitted to the MLPA test have been reported yet. We used the BRCAPro software for the selection of familial breast/ovarian cancer probands investigated with the MLPA approach after negative BRCA1/2 conventional mutation screening. One hundred and seventy-seven probands were investigated for germline BRCA1/2 mutations after assessment of genetic risk using BRCAPro. Probands were classified as BRCAPro positive (n = 67) when the carrier probability (CP) was >10% and as BRCAPro negative (n = 110), when the CP was <10%. Conventional mutational analyses of the BRCA1/2 genes and, in one case, of p53 identified 22 pathogenetic germline mutations, 12 in BRCA1, 9 in BRCA2 and 1 in p53, in 22/177 (12.4%) probands. All the mutations except one were detected in BRCAPro-positive patients. In the 46 BRCAPro-positive cases that resulted negative by BRCA1/2 mutation, screening analysis of rearrangements within BRCA1/2 by MLPA was carried out. Three patients with a very high CP showed BRCA1 deletions, consisting of deletions of exons 1–2 in two probands and of exon 24 in the third proband. In one case, the exons 1–2 deletion was shown to cosegregate with disease in the family. No BRCA2 rearrangements were detected, but one patient showed the 1100delC of the CHEK2 gene, whose probe is present in the BRCA2 kit. In our series, the highest carrier detection rate of mutation screening plus MLPA analysis (52.3%) was in patients with a BRCAPro CP >50%

Research on the meaning of the enzymatic systems (GPI and PGM) as parameters for the definition of varieties (Vitis sp.): The Italian case of Cabernet franc

Several studies carried out at Davis and Conegliano showed that isozyme analysis of the GPI and PGM enzymatic systems agrees with the conventional definition of the variety in ampelography. Differences were reported among varieties but not among biotypes of the same varieties. The only exception recorded was in the population of Cabernet franc in which GPI and PGM reveal two different types (A - the traditional type encountered in France and B - type encountered in the Italian region of Veneto). Further ampelographic, ampelometric, phenological and chemical studies on the polyphenolic and aromatic substances in fruits have shown considerable differences between the two types. Such differences demonstrate that the type B is a different variety and not a clone of Cabernet franc. Preliminary ampelographic analysis and the equality in GPI and PGM patterns lead to the conclusion that the type B very probably is Carmenère. Therefore, the hypothesis of variety discrimination based on the analysis of GPI and PGM is valid and this method is useful to help to characterize the varieties

Specific TP53 and/or Ki-ras mutations as independent predictors of clinical outcome in sporadic colorectal adenocarcinomas: results of a 5-year Gruppo Oncologico dell'Italia Meridionale (GOIM) prospective study.

BACKGROUND: Although Ki-ras and TP53 mutations have probably been the genetic abnormalities most exhaustively implicated and studied in colorectal cancer (CRC) progression, their significance in terms of disease relapse and overall survival has not yet clearly been established. PATIENTS AND METHODS: A prospective study was carried out on paired tumor and normal colon tissue samples from a consecutive series of 160 previously-untreated patients, undergoing resective surgery for primary operable sporadic CRC. Mutations within the TP53 (exons 5-8) and Ki-ras (exon 2) genes were detected by PCR-SSCP analyses following sequencing. RESULTS: Mutation analyses of exons 5 to 8 of the TP53 gene showed mutations in 43% (68/160) of the cases, while mutation analyses of exon 2 of the Ki-ras gene showed mutations in 46% (74/160) of the cases. Multivariate analyses showed that clinical outcome were strongly associated with the presence of specific TP53 mutations in L3 domain alone (only in DFS) or in combination with specific Ki-ras mutations at codon 13. CONCLUSION: Specific TP53 mutations in L3 domain alone (only in DFS) or in combination with specific Ki-ras mutations at codon 13 are associated with a worse prognosis in sporadic CRC