Geo-hydrological hazard underlined by toponymy of Italian Military Geographycal Institute maps at 1:25,000 scale. Contributions to the knowledge of floodplain and hillslope dinamycs

Toponymy is a linguistic discipline, which has already been used as a tool for geographical studies in Italy and particularly in Liguria. Geographical studies have already classified the toponyms in several categories: physical geography, human geography and socio-economic geography. By selecting the place names connected to physical geography, we study those suggesting the presence of landslides or floods. We focussed on the Italian Military Geographic Institute maps at 1: 25.000 scale, edited between 1936-1939 and related to a territory approximately located between Genoa and Chiavari, in Ligurian coastal area, and Tortona and Piacenza in Po valley. On the Ligurian slopes we have examined the maps relating to the Polcevera, Bisagno and Entella streams catchments. For the Po side we dealt with maps of the Scrivia and Trebbia rivers catchments: From the Ligurian-Po watershed, these rivers flow into the Adriatic Sea. The place names have been compared with landslide and flood hazard maps of Basin Master Plans for geo-hydrological risk reduction. The toponyms feature a linguistic layer linked to different historical periods. In particular in the study area several layers have been recognized: the ancient Ligurian pre-Roman, Latin, ancient Lombard, vulgar Gaulish-Italic of local languages and Italian terms related to the twentieth century. The first three layers and the last one match in the entire area of study. The vulgar Gaulish-Italic is structured into two Ligurian and Emilian groups: the latter is further splitted into the Oltrepo variants of Tortona and Piacenza. The identified names were distinguished in related-landslides or floods. In addition, the toponyms have been further divided into three linguistic influence areas: Ligurian, from Ligurian Sea up to Novi Ligure and Bobbio, the language of Tortona, downstream of Novi Ligure and Piacenza from Bobbio to Po river. Overall, place names linked to physical geography features represent nearly 25% of toponyms with a density of about 0.5 per km2. Almost half of these are toponyms related to landslides, floods or predisposing factors such as erosion, steepness or water. The names of places linked to landsliding prevail in Liguria, while those related to the waters or floods in the Po areas are located in plain areas or in very gentle slopes. The most common names related to landslides or erosion are \u201cmoggia\u201d, \u201cliggia\u201d or \u201ccrosi\u201d and similar, which respectively mean swampy deposits, landslides or gullies. Names related to floods are \u201criva\u201d, \u201cpiana\u201d \u201cponte\u201d or \u201cisola\u201d which mean respectively edge of fluvial scarp, floodplain, bridge or isle. The comparison with the Basin Master Plan gave satisfying results: we found a good correspondence between names and geo-hydrological hazard. The use of toponyms allowed a geographycal interpretation of the slope and floodplain dynamics. It suggests a possible use of toponymys in land planning activities

Validation of a Liquid Biopsy Protocol for Canine BRAFV595E Variant Detection in Dog Urine and Its Evaluation as a Diagnostic Test Complementary to Cytology

A significant proportion of canine urothelial carcinomas carry the driver valine to glutamic acid variation (V595E) in BRAF kinase. The detection of V595E may prove suitable to guide molecularly targeted therapies and support non-invasive diagnosis of the urogenital system by means of a liquid biopsy approach using urine. Three cohorts and a control group were included in this multi-step validation study which included setting up a digital PCR assay. This was followed by investigation of preanalytical factors and two alternative PCR techniques on a liquid biopsy protocol. Finally, a blind study using urine as diagnostic sample has been carried out to verify its suitability as diagnostic test to complement cytology. The digital PCR (dPCR) assay proved consistently specific, sensitive, and linear. Using the dPCR assay, the prevalence of V595E in 22 urothelial carcinomas was 90.9%. When compared with histopathology as gold standard in the blind-label cases, the diagnostic accuracy of using the canine BRAF (cBRAF) variation as a surrogate assay against the histologic diagnosis was 85.7% with 92.3% positive predictive value and 80.0% negative predictive value. In all the cases, in which both biopsy tissue and the associated urine were assayed, the findings matched completely. Finally, when combined with urine sediment cytology examination in blind-label cases with clinical suspicion of malignancy, the dPCR assay significantly improved the overall diagnostic accuracy. A liquid biopsy approach on urine using the digital PCR may be a valuable breakthrough in the diagnostic of urothelial carcinomas in dogs

Methodology and Neuromarkers for Cetaceans’ Brains

Cetacean brain sampling may be an arduous task due to the difficulty of collecting and histologically preparing such rare and large specimens. Thus, one of the main challenges of working with cetaceans’ brains is to establish a valid methodology for an optimal manipulation and fixation of the brain tissue, which allows the samples to be viable for neuroanatomical and neuropathological studies. With this in view, we validated a methodology in order to preserve the quality of such large brains (neuroanatomy/neuropathology) and at the same time to obtain fresh brain samples for toxicological, virological, and microbiological analysis (neuropathology). A fixation protocol adapted to brains, of equal or even three times the size of human brains, was studied and tested. Finally, we investigated the usefulness of a panel of 20 antibodies (neuromarkers) associated with the normal structure and function of the brain, pathogens, age-related, and/or functional variations. The sampling protocol and some of the 20 neuromarkers have been thought to explore neurodegenerative diseases in these long-lived animals. To conclude, many of the typical measures used to evaluate neuropathological changes do not tell us if meaningful cellular changes have occurred. Having a wide panel of antibodies and histochemical techniques available allows for delving into the specific behavior of the neuronal population of the brain nuclei and to get a “fingerprint” of their real status

E-cadherin deregulation in breast cancer

E-cadherin protein (CDH1 gene) integrity is fundamental to the process of epithelial polarization and differentiation. Deregulation of the E-cadherin function plays a crucial role in breast cancer metastases, with worse prognosis and shorter overall survival. In this narrative review, we describe the inactivating mechanisms underlying CDH1 gene activity and its possible translation to clinical practice as a prognostic biomarker and as a potential targeted therapy

Next-generation sequencing approach to hyperCKemia: A 2-year cohort study

ObjectiveNext-generation sequencing (NGS) was applied in molecularly undiagnosed asymptomatic or paucisymptomatic hyperCKemia to investigate whether this technique might allow detection of the genetic basis of the condition.MethodsSixty-six patients with undiagnosed asymptomatic or paucisymptomatic hyperCKemia, referred to tertiary neuromuscular centers over an approximately 2-year period, were analyzed using a customized, targeted sequencing panel able to investigate the coding exons and flanking intronic regions of 78 genes associated with limb-girdle muscular dystrophies, rhabdomyolysis, and metabolic and distal myopathies.ResultsA molecular diagnosis was reached in 33 cases, corresponding to a positive diagnostic yield of 50%. Variants of unknown significance were found in 17 patients (26%), whereas 16 cases (24%) remained molecularly undefined. The major features of the diagnosed cases were mild proximal muscle weakness (found in 27%) and myalgia (in 24%). Fourteen patients with a molecular diagnosis and mild myopathic features on muscle biopsy remained asymptomatic at a 24-month follow-up.ConclusionsThis study of patients with undiagnosed hyperCKemia, highlighting the advantages of NGS used as a first-tier diagnostic approach in genetically heterogeneous conditions, illustrates the ongoing evolution of molecular diagnosis in the field of clinical neurology. Isolated hyperCKemia can be the sole feature alerting to a progressive muscular disorder requiring careful surveillance

Correction : Long term natural history data in ambulant boys with Duchenne muscular dystrophy : 36-month changes

The 6 minute walk test has been recently chosen as the primary outcome measure in international multicenter clinical trials in Duchenne muscular dystrophy ambulant patients. The aim of the study was to assess the spectrum of changes at 3 years in the individual measures, their correlation with steroid treatment, age and 6 minute walk test values at baseline. Ninety-six patients from 11 centers were assessed at baseline and 12, 24 and 36 months after baseline using the 6 minute walk test and the North Star Ambulatory Assessment. Three boys (3%) lost the ability to perform the 6 minute walk test within 12 months, another 13 between 12 and 24 months (14%) and 11 between 24 and 36 months (12%). The 6 minute walk test showed an average overall decline of 1215.8 (SD 77.3) m at 12 months, of 1258.9 (SD 125.7) m at 24 months and 12104.22 (SD 146.2) m at 36 months. The changes were significantly different in the two baseline age groups and according to the baseline 6 minute walk test values (below and above 350 m) (p<0.001). The changes were also significantly different according to steroid treatment (p\u200a=\u200a0.01). Similar findings were found for the North Star Ambulatory Assessment. These are the first 36 month longitudinal data using the 6 minute walk test and North Star Ambulatory Assessment in Duchenne muscular dystrophy. Our findings will help not only to have a better idea of the progression of the disorder but also provide reference data that can be used to compare with the results of the long term extension studies that are becoming available

Immediate breast reconstruction with a saline implant and AlloDerm, following removal of a Phyllodes tumor

<p>Abstract</p> <p>Background</p> <p>Phyllodes tumors are uncommon tumors of the breast that exhibit aggressive growth. While surgical management of the tumor has been reported, a single surgical approach with immediate breast reconstruction using AlloDerm has not been reported.</p> <p>Case presentation</p> <p>A 22-year-old woman presented with a 4 cm mass in the left breast upon initial examination. Although the initial needle biopsy report indicated a fibroadenoma, the final pathologic report revealed a 6.5 cm × 6.4 cm × 6.4 cm benign phyllodes tumor <it>ex vivo</it>. Treatment was a simple nipple-sparing mastectomy coupled with immediate breast reconstruction. After the mastectomy, a subpectoral pocket was created for a saline implant and AlloDerm was stitched to the pectoralis and serratus muscle in the lower-pole of the breast.</p> <p>Conclusions</p> <p>Saline implant with AlloDerm can be used for immediate breast reconstruction post-mastectomy for treatment of a phyllodes tumor.</p

1st International consensus guidelines for advanced breast cancer (ABC 1)

The 1st international Consensus Conference for Advanced Breast Cancer (ABC 1) took place on November 2011, in Lisbon. Consensus guidelines for the management of this disease were developed. This manuscript summarizes these international consensus guidelines