Cowden syndrome - Diagnostic skin signs

Cowden syndrome is a rare autosomal dominant familial cancer syndrome with a high risk of breast cancer. The most important clinical features include carcinomas of the breast and thyroid, and hamartomatous polyps of the gastrointestinal tract. There are characteristic mucocutaneous features which allow early recognition of the disease and are generally present before internal malignancies develop. We report on a woman in whom the diagnosis of Cowden syndrome was first made after she had been treated for both breast cancer and melanoma. Copyright (C) 2001 S. KargerAG, Basel

Identification of human papillomavirus DNA in cutaneous lesions of Cowden syndrome

Background: Cowden syndrome (CS) or multiple hamartoma syndrome is a cancer-associated genodermatosis inherited in an autosomal dominant pattern. One of the diagnostic criteria is facial papules which are felt to be trichilemmomas, benign hair follicle tumors, which some consider to be induced by human papillomavirus (HPV). Objective: To search for HPV in skin tumors, especially trichilemmomas, from patients with CS. Methods: Skin lesions from patients with CS were classified histologically. Each tumor was then analyzed for HPV DNA by polymerase chain reaction with different primer sets; positive amplicons were typed by direct sequencing. Results: Twenty-nine biopsies from 7 patients with CS were investigated. Only 2 of 29 tumors clinically suspected of being trichilemmomas were confirmed histologically. In addition, 3 sclerotic fibromas, also typical of CS, were found, as well as 1 sebaceous hyperplasia. The other 23 lesions showed histological features of HPV-induced tumors in various stages of development. HPV DNA was found in 19 of 29 cutaneous lesions. Tumors without any histological signs of HPV induction were negative for HPV DNA. Two tumors which were histologically classified as common warts contained HPV types 27 and 28. All the 17 other HPV types belong to the group of epidermodysplasia-verruciformis-associated types. Conclusions: The majority of cutaneous lesions in CS contain HPV DNA. They may have a variety of histological patterns. Trichilemmomas are not clinically distinctive and can be difficult to identify in CS patients. Copyright (C) 2003 S. Karger AG, Basel

FAIR Practices in Europe

Institutions driving fundamental research at the cutting edge such as for example from the Max Planck Society (MPS) took steps to optimize data management and stewardship to be able to address new scientific questions. In this paper we selected three institutes from the MPS from the areas of humanities, environmental sciences and natural sciences as examples to indicate the efforts to integrate large amounts of data from collaborators worldwide to create a data space that is ready to be exploited to get new insights based on data intensive science methods. For this integration the typical challenges of fragmentation, bad quality and also social differences had to be overcome. In all three cases, well-managed repositories that are driven by the scientific needs and harmonization principles that have been agreed upon in the community were the core pillars. It is not surprising that these principles are very much aligned with what have now become the FAIR principles. The FAIR principles confirm the correctness of earlier decisions and their clear formulation identified the gaps which the projects need to address

Intermittency in the Joint Cascade of Energy and Helicity

The statistics of the energy and helicity fluxes in isotropic turbulence are studied using high resolution direct numerical simulation. The scaling exponents of the energy flux agree with those of the transverse velocity structure functions through refined similarity hypothesis, consistent with Kraichnan's prediction \cite{Kr74}. The helicity flux is even more intermittent than the energy flux and its scaling exponents are closer to those of the passive scalar. Using Waleffe's helical decomposition, we demonstrate that the existence of positive mean helicity flux inhibits the energy transfer in the negative helical modes, a non-passive effect

Rare human skin infection with Corynebacterium ulcerans: transmission by a domestic cat

Corynebacterium ulcerans is mainly known for its ability to cause animal infections. Some strains of C. ulcerans produce diphtheria toxin, which can cause life-threatening cardiopathies and neuropathies in humans. Human cutaneous C. ulcerans infection is a very rare disease that mimics classical cutaneous diphtheria. We present a very rare case of a C. ulcerans skin infection caused by a non-diphtheria toxin-producing strain of C. ulcerans that resolved after 3weeks of therapy with amoxicillin-clavulanate. A pet cat was the probable source of infection. The presence of C. ulcerans in the mouth of the cat was confirmed by 16S rRNA gene analysis and the API Coryne system. In cases of human infection with potentially toxigenic corynebacteria, it is important to determine the species and examine the isolate for diphtheria toxin production. If toxigenicity is present, diphtheria antitoxin should be administered immediately. Carriers and potential infectious sources of C. ulcerans include not only domestic livestock but also pet animals. For the primary prevention of disease caused by diphtheria toxin-producing corynebacteria, vaccination with diphtheria toxoid is recommende

Effect of filter type on the statistics of energy transfer between resolved and subfilter scales from a-priori analysis of direct numerical simulations of isotropic turbulence

The effects of different filtering strategies on the statistical properties of the resolved-to-sub-filter scale (SFS) energy transfer are analyzed in forced homogeneous and isotropic turbulence. We carry out a priori analyses of statistical characteristics of SFS energy transfer by filtering data obtained from direct numerical simulations (DNS) with up to $2048^3$ grid points as a function of the filter cutoff scale. In order to quantify the dependence of extreme events and anomalous scaling on the filter, we compare a sharp Fourier Galerkin projector, a Gaussian filter and a novel class of Galerkin projectors with non-sharp spectral filter profiles. Of interest is the importance of Galilean invariance and we confirm that local SFS energy transfer displays intermittency scaling in both skewness and flatness as a function of the cutoff scale. Furthermore, we quantify the robustness of scaling as a function of the filtering type

An International Multicenter Performance Analysis of Cytomegalovirus Load Tests

A new quantitative polymerase chain reaction assay, COBAS AmpliPrep/COBAS TaqMan CMV Test, was developed using the first World Health Organization cytomegalovirus standard. It demonstrated a high level of interlaboratory agreement and precision compared to quantitative results obtained with tests used by 5 different laboratorie

Si3AlP: A new promising material for solar cell absorber

First-principles calculations are performed to study the structural and optoelectronic properties of the newly synthesized nonisovalent and lattice-matched (Si2)0.6(AlP)0.4 alloy [T. Watkins et al., J. Am. Chem. Soc. 2011, 133, 16212.] We find that the ordered CC-Si3AlP with a basic unit of one P atom surrounded by three Si atoms and one Al atom is the most stable one within the experimentally observed unit cell.1 Si3AlP has a larger fundamental band gap and a smaller direct band gap than Si, thus it has much higher absorption in the visible light region. The calculated properties of Si3AlP suggest that it is a promising candidate for improving the performance of the existing Si-based solar cells. The understanding on the stability and band structure engineering obtained in this study is general and can be applied for future study of other nonisovalent and lattice-matched semiconductor alloys