Down-regulation of the pro-apoptotic XIAP associated factor-1 (XAF1) during progression of clear-cell renal cancer

BACKGROUND: Decreased expression of the interferon-stimulated, putative tumour suppressor gene XAF1 has been shown to play a role during the onset, progression and treatment failure in various malignancies. However, little is yet known about its potential implication in the tumour biology of clear-cell renal cell cancer (ccRCC). METHODS: This study assessed the expression of XAF1 protein in tumour tissue obtained from 291 ccRCC patients and 68 normal renal tissue samples, utilizing immunohistochemistry on a tissue-micro-array. XAF1 expression was correlated to clinico-pathological tumour features and prognosis. RESULTS: Nuclear XAF1 expression was commonly detected in normal renal- (94.1%) and ccRCC (91.8%) samples, without significant differences of expression levels. Low XAF1 expression in ccRCC tissue, however, was associated with progression of tumour stage (p = 0.040) and grade (p < 0.001). Low XAF1 tumour levels were also prognostic of significantly shortened overall survival times in univariate analysis (p = 0.018), but did not provide independent prognostic information. CONCLUSION: These data suggest down-regulation of XAF1 expression to be implicated in ccRCC progression and implies that its re-induction may provide a therapeutic approach. Although the prognostic value of XAF1 in ccRCC appears to be limited, its predictive value remains to be determined, especially in patients with metastatic disease undergoing novel combination therapies of targeted agents with Interferon-alpha

Segmental resection of the duodenum for gastrointestinal stromal tumor (GIST)

<p>Abstract</p> <p>Background</p> <p>Gastrointestinal stromal tumors (GIST) are the most frequent mesenchymal tumors of the gastrointestinal tract. The biological appearance of these tumors reaches from small lesions with benign appearance to aggressive sarcomas. Only 3–5% of GISTs are localized in the duodenum. There is a controversy, if duodenal GISTs should be treated by a duodenopancreatectomy or by a limited resection of the duodenum.</p> <p>Case presentation</p> <p>A 29-year-old man presented with an acute upper gastrointestinal bleeding from a submucosal tumor located in the proximal part III of the duodenum, 3 cm distal of the papilla of Vater. After an emergency laparotomy with ligation of tumor-feeding vessels in a primary hospital, definitive surgical therapy was performed by partial resection of the duodenum with a duodenojejunostomy. Histology revealed a GIST with a diameter of 2.5 cm and <5 mitoses/50 high power fields, indicating a low risk of malignancy. Therefore no adjuvant therapy with Imatinib was initiated.</p> <p>Conclusion</p> <p>GISTs of the duodenum are a rare cause of upper gastrointestinal bleeding. Partial resection of the duodenum is a warranted alternative to a duodenopancreatectomy, as this procedure has a lower operative morbidity, while providing comparable oncological results.</p

The SIB Swiss Institute of Bioinformatics' resources: focus on curated databases

The SIB Swiss Institute of Bioinformatics (www.isb-sib.ch) provides world-class bioinformatics databases, software tools, services and training to the international life science community in academia and industry. These solutions allow life scientists to turn the exponentially growing amount of data into knowledge. Here, we provide an overview of SIB's resources and competence areas, with a strong focus on curated databases and SIB's most popular and widely used resources. In particular, SIB's Bioinformatics resource portal ExPASy features over 150 resources, including UniProtKB/Swiss-Prot, ENZYME, PROSITE, neXtProt, STRING, UniCarbKB, SugarBindDB, SwissRegulon, EPD, arrayMap, Bgee, SWISS-MODEL Repository, OMA, OrthoDB and other databases, which are briefly described in this article

Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates.

Mal de Meleda (MDM) or keratosis palmoplantaris transgrediens of Siemens is an autosomal recessive skin disorder characterized by diffuse palmoplantar keratoderma (PPK) and transgressive keratosis with an onset in early infancy. There is no associated involvement of other organs; however, a spectrum of clinical presentations with optional and variable features has been described. Mutations in the ARS (component B)-81/s gene (LY6LS) on chromosome 8q24-qter, which encodes SLURP-1, have recently been identified in patients with MDM. Here, we have analyzed four MDM families for mutations in SLURP-1. In a large Palestinian pedigree with multiple consanguinity, patients are homozygous for a new mutation that substitutes an arginine for a conserved glycine residue at position 86. A different mutation in Turkish patients results in the same amino acid exchange. Some remarkable similarities are seen in the clinical picture of patients from both families. Patients of an Emirati Bedouin family have a homozygous alteration of the translation initiation codon. In a German family with no known consanguinity, we have shown pseudodominant inheritance. Three affected children and their affected mother are homozygous for the missense mutation W15R. Our findings indicate that the MDM type of transgressive PPK is caused by SLURP-1 mutations in patients from various origins and demonstrate allelic heterogeneity for mutations in SLURP-1

Diamond nanophotonics

We demonstrate the coupling of single color centers in diamond to plasmonic and dielectric photonic structures to realize novel nanophotonic devices. Nanometer spatial control in the creation of single color centers in diamond is achieved by implantation of nitrogen atoms through high-aspect-ratio channels in a mica mask. Enhanced broadband single-photon emission is demonstrated by coupling nitrogen–vacancy centers to plasmonic resonators, such as metallic nanoantennas. Improved photon-collection efficiency and directed emission is demonstrated by solid immersion lenses and micropillar cavities. Thereafter, the coupling of diamond nanocrystals to the guided modes of micropillar resonators is discussed along with experimental results. Finally, we present a gas-phase-doping approach to incorporate color centers based on nickel and tungsten, in situ into diamond using microwave-plasma-enhanced chemical vapor deposition. The fabrication of silicon–vacancy centers in nanodiamonds by microwave-plasma-enhanced chemical vapor deposition is discussed in addition

First operation of the KATRIN experiment with tritium

The determination of the neutrino mass is one of the major challenges in astroparticle physics today. Direct neutrino mass experiments, based solely on the kinematics of β β -decay, provide a largely model-independent probe to the neutrino mass scale. The Karlsruhe Tritium Neutrino (KATRIN) experiment is designed to directly measure the effective electron antineutrino mass with a sensitivity of 0.2 eV 0.2 eV (90% 90% CL). In this work we report on the first operation of KATRIN with tritium which took place in 2018. During this commissioning phase of the tritium circulation system, excellent agreement of the theoretical prediction with the recorded spectra was found and stable conditions over a time period of 13 days could be established. These results are an essential prerequisite for the subsequent neutrino mass measurements with KATRIN in 2019