Search results for " Genetics"

Surgical robotics for esophageal cancer

2018

We present an update on robotic techniques and their advantages and use in esophageal cancer surgery. Recent work has shown tremendous progress in robotic-assisted minimally invasive esophagectomy (RAMIE) and lymphadenectomy for esophageal cancer, as well as benefits of robotic surgery in high upper esophageal tumors and T4b disease. We discuss the different RAMIE techniques, especially for intrathoracic anastomosis. The ongoing ROBOT trial had demonstrated superiority of robotic esophageal cancer surgery over open esophagectomy. There are various putative technical advantages of RAMIE over minimally invasive esophagectomy, which need to be proven in future trials.

Steroid Patterns of Benign Breast Disease

1990

We briefly review some biochemical aspects of benign breast disease (BBD), mainly focusing on free and conjugate estrogen content of breast cyst fluid (BCF), also in relation to cyst type. Evidence is reported that high K(+)-type I-cysts clearly associate with low Cl- levels and accumulate significantly higher quantities of dehydroepiandrosterone sulfate (DHAS) and estrone-3-sulfate (E1S). In spite of the limited number of cases, both increasing DHAS and E1S levels correlate with the increment of K+ to Na+ ratio. A positive correlation was also found between DHAS and E1S. Using electrochemical detection (ECD) on-line to high performance liquid chromatography (HPLC) in the reverse phase mode…

Ambulatory assessment as a means of longitudinal phenotypes characterization in psychiatric disorders

2014

Abstract Ambulatory Assessment (AA) comprises the use of in-field methods to assess individuals’ behavior, physiology, and the experience as they unfold in naturalistic settings. We propose that AA is favorable for the investigation of gene–environment interactions and for the search for endophenotypes, being able to assess the experienced environment and to track basic regulatory processes, such as stress reactivity, affective instability, and reward experience, which are potential common factors that underlie psychiatric disorders. In this article, we (a) first describe briefly the rationale of AA and summarize the key advantages of the approach, (b) highlight within-subject regulatory pr…

The impact of chocolate on cardiovascular health

2011

Cardiovascular disease is the leading determinant of mortality and morbidity in women. Functional foods are attracting interest as potential regulators of the susceptibility to disease. Supported by epidemiological evidence, chocolate has emerged as a possible modulator of cardiovascular risk. Chocolate, or cocoa as the natural source, contains flavanols, a subclass of flavonoids. The latter years have witnessed an increasing number of experimental and clinical studies that suggest a protective effect of chocolate against atherogenesis. Oxidative stress, inflammation, and endothelial function define three biological mechanisms that have shown sensitivity to chocolate. Moreover, the consumpt…

Studying hypertension in ocular fundus images using Hausdorff dispersion ordering.

2010

Retinal arterial and vein diameters are altered in individuals at risk of cardiovascular events mainly due to high blood pressure. The measurement of retinal vessel diameters has been proved to reflect individuals' vascular health. Dispersion of such measures which are obtained by means of ocular fundus images is a major factor not usually considered in clinical research. In this paper, a method to evaluate if different levels of clinically relevant covariables induce greater dispersion in retinal arterial and vein diameters is proposed. A multivariate dispersion ordering, the Hausdorff dispersion order, is used to compare the level of dispersion in such diameters for different groups of pa…

�ber die unterschiedliche Wirkung von Follikelhormon und Stilbenen auf die Gonadotropinaussch�ttung der Rattenhypophyse

1955

Microbial technologies for the discovery of novel bioactive metabolites

2002

Soil microbes represent an important source of biologically active compounds. These molecules present original and unexpected structure and are selective inhibitors of their molecular targets. At Biosearch Italia, discovery of new bioactive molecules is mostly carried out through the exploitation of a proprietary strain collection of over 50000 strains, mostly unusual genera of actinomycetes and uncommon filamentous fungi. A critical element in a drug discovery based on microbial extracts is the isolation of unexploited groups of microorganisms that are at the same time good producers of secondary metabolites. Molecular genetics can assist in these efforts. We will review the development an…

Genetic counselling in ALS: facts, uncertainties and clinical suggestions

2013

The clinical approach to patients with amyotrophic lateral sclerosis (ALS) has been largely modified by the identification of novel genes, the detection of gene mutations in apparently sporadic patients, and the discovery of the strict genetic and clinical relation between ALS and frontotemporal dementia (FTD). As a consequence, clinicians are increasingly facing the dilemma on how to handle genetic counselling and testing both for ALS patients and their relatives. On the basis of existing literature on genetics of ALS and of other late-onset life-threatening disorders, we propose clinical suggestions to enable neurologists to provide optimal clinical and genetic counselling to patients and…

Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.

2010

PURPOSE. The purpose of this study was to test the ability of the genotyping microarray for Usher syndrome (USH) to identify the mutations responsible for the disease in a cohort of 183 patients with USH. METHODS. DNA from 183 patients with Usher syndrome from the Spanish population was analyzed using a genotyping microarray containing 429 previously identified disease-associated variants in eight USH genes. Mutations detected by the array were confirmed by direct sequencing. Haplotype analysis was also performed in families carrying common Spanish mutations. RESULTS. The genotyping microarray identified 43 different variants, divided into 32 disease causative and 11 probably non-pathologic…

Influence of spurious dilution and hyperglycemia on erythrocytes and platelets evaluated with two different hematological analyzers

2015

The integrity of whole blood samples may be compromised by suboptimal collection practices. Therefore, we investigated the influence of spurious hyperglycemia on erythrocytes and platelets, assessed with two hematological analyzers using optical or impedance technique. Three K2EDTA blood specimens were collected from 12 healthy subjects, pooled and divided into four aliquots. The first aliquot was left untreated (glucose concentration 4.4 mmol/L), whereas scalar amounts of standard 5% glucose solution were added to the remaining, generating glucose contamination of 5% (19.2 mmol/L), 10% (33 mmol/L) and 20% (62 mmol/L). Hematological testing was then performed using Siemens Advia 2120 and Sy…