Distinct clinical phenotypes in a family with a novel truncating MEN1 frameshift mutation.

Background: MEN1 mutations can inactivate or disrupt menin function and are leading to multiple endocrine neoplasia type 1, a rare heritable tumor syndrome.

Case Presentation: We report on a MEN1 family with a novel heterozygous germline mutation, c.674delG; p.

Effect of Isothermal Conditions on the Charge Trapping/Detrapping Parameters in e-Beam Irradiated Thermally Aged XLPE Insulation in SEM.

The effect of isothermal conditions on the trapping/detrapping process of charges in e-beam irradiated thermally aged XLPE insulation in scanning electron microscopy (SEM) has been investigated. Different isothermal conditions ranging from room temperature to 120 °C are applied on both unaged and aged XLPE samples (2 mm thick) by a suitable arrangement associated with SEM. For each applied test temperature, leakage, and influence currents have been measured simultaneously during and after e-beam irradiation.

Study of temperature effects on the electrical behavior of polypropylene-clay nanocomposites submitted to electron beam irradiation in a SEM.

Charge transport and electron emission properties in polypropylene and its nanocomposites filled with nanoclay particles submitted to an electron irradiation, in a Scanning Electron Microscope (SEM), are investigated using induced displacement and leakage currents. The measurements have been performed at various temperatures ranging from 20°C to 75°C at a primary beam energy of 20keV and a primary beam current of 1nA with the aim to highlight the effect of temperature and nanoclay content on these properties. The results show, at a given temperature, that the incorporation of clay in polypropylene (PP) matrix paradoxically leads to a concomitant increase in the electrical conductivity and the charge accumulated.

Effect of nanoclay concentration level on the electrical properties of polypropylene under electron irradiation in a SEM.

For studying the electrical properties (charge trapping, transport and secondary electron emission) of the polypropylene-based nanocomposites with different contents of natural clay, the specimens were submitted to electron irradiation of a scanning electron microscope. A device, suitably mounted on the sample holder of the scanning electron microscope, was used to measure two currents (i.e.

Multiple endocrine neoplasia type 1 associated with a new germline Men1 mutation in a family with atypical tumor phenotype.

Background: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal-dominant hereditary disorder associated with the development of endocrine tumors due to reduced expression of the tumor suppressor protein menin. Recent studies indicate a general role of menin in carcinogenesis, affecting the prevalence and clinical course of common non-endocrine tumors such as breast cancer, hepatocellular carcinoma and melanoma. Here we report a new germline missense mutation of Men1 in a German family with atypical tumor phenotype over three generations.