In a retrospective analysis of almost 2000 patients, we found 60% to have SPSS; prevalence increases with deterioration of liver function. SPSS increase risk for HE and with a chronic course. In patients with preserved liver function, SPSS increase risk for complications and death. ClinicalTrials.gov ID NCT02692430.

It has been suggested based on familial data that Nijmegen breakage syndrome (NBS) heterozygotes have an increased risk of malignant tumors. We found 15 carriers of the 657del5 mutation and 8 carriers of the R215W molecular variant of the NBS1 gene among 1,289 consecutive patients from Central Poland with various cancers and only 10 and 4 such carriers, respectively, in 1,620 controls from this region. Most of the 657del5 mutation carriers were found among patients with melanoma (4/105), non-Hodgkin lymphoma (2/ 42) and breast cancer (4/224) and of the 234 patients with colorectal carcinoma 3 carried the 657del5 mutation and 3 others the R215W molecular variant. The frequencies of 657del5 mutation carriers among patients with melanoma and non-Hodgkin lymphoma and of R215W carriers in patients with colorectal cancer were significantly higher than in controls (p < 0.01, < 0.05 and < 0.05 respectively). The pooled frequencies of 657del5 and R215W mutations in all cancer patients were also significantly higher than in controls (p < 0.05). Two carriers of the 657del5 mutation had second primary tumors. Malignant tumors among parents and siblings of 657del5 mutation carriers (14/77) were twice more frequent than in population controls. Three carriers of this mutation (2 probands with melanoma) reported melanoma in relatives. These results suggest strongly that NBS1 heterozygosity may be associated with elevated risk of some cancers. Larger studies are needed to evaluate the impact of the high frequency of germline NBS1 mutations on the cancer burden in the Slav populations. © 2004 Wiley-Liss, Inc. Key words: NBS1 gene; heterozygous mutation carriers; 657del5 mutation; R215W molecular variant; cancer riskThe chromosomal instability disorder, Nijmegen breakage syndrome (NBS), is characterized by microcephaly, growth retardation, immunodeficiency, hypersensitivity to X-irradiation and increased predisposition to lymphoid malignancy. 1 The gene mutated in NBS was identified in 1998. [2][3][4] Nibrin, the product of the NBS1 gene, is part of the MRE11/RAD50 complex, which is involved in the repair of DNA double strand breaks (DSBs). Double strand breaks are not only induced by mutagens but are also intermediates of DNA processing in immune gene rearrangements, the maintenance of telomeres, and in meiotic recombination. Nibrin is involved in the processing of all these types of DSBs. 2 This explains the complex NBS phenotype, including the very high incidence of lymphomas and other malignant tumors, which are the major cause of deaths among NBS patients already during childhood and adolescence. 5 The majority of NBS patients are of Central and Eastern European origin and share the common founder mutation in the NBS1 gene, 657del5. 6 NBS shares many clinical and cellular features with ataxiatelangiectasia (AT), and it was shown that they are also pathogenetically related. 7-10 Interestingly, the cancer risk in NBS1 homozygotes is higher than that of AT patients. 5 Heterozygous relatives of AT probands have an approximately 2...

5mm 5 mm Highlights Total cross-sectional SPSS area (TSA) predicts survival in patients with advanced chronic liver disease. The cutoff for TSA that is associated with worse survival corresponds to a single shunt of >10 mm diameter. This study may impact on the clinical use of TSA/SPSS for risk stratification and decision-making in the management of patients with cirrhosis.

The iron-bispidine-catalyzed oxidation of cyclohexane with H(2)O(2), where either a tetradentate or a pentadentate bispidine ligand is coordinated to the iron center, yields up to 35% cyclohexanol and cyclohexanone (alcohol/ketone ratio of up to 4). Product distribution (including (18)O labeling studies), kinetic isotope effects, and the ratio of tertiary/secondary alcohols with adamantane as a substrate (tertiary/secondary) suggest that (i) H abstraction by a ferryl complex is the rate-determining step and that the emerging cyclohexyl radical is short-lived, (ii) there is a parallel reaction involving oxidation by OH radicals, and (iii) there are considerable differences in the reaction pathways between the tetradentate and pentadentate ligand catalyst. These interpretations are fully supported by a DFT-based computational analysis.

Experimental data suggest that there are various competing pathways for the catalytic and stoichiometric oxygenation of cyclohexane, assisted by iron-bispidine complexes and using various oxidants (H(2)O(2), O(2), PhIO). Density functional theory calculations indicate that both Fe(IV)=O and Fe(V)=O species are accessible and efficiently transfer their oxygen atoms to cyclohexane. The reactivities of the two isomers each and the two possible spin states for the Fe(IV)=O and Fe(V)=O species are sufficiently different to allow an interpretation of the experimental data.

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PurposeThe aim of this study was to identify the most accurate and reliable quantitative radiographic parameters for assessing vertical and horizontal instability in different Rockwood grades of acromioclavicular joint (ACJ) separations. Furthermore, the effect of projectional variation on these parameters was investigated in obtaining lateral Alexander view radiographs.MethodsA Sawbone model of a scapula with clavicle was mounted on a holding device, and acromioclavicular dislocations as per the Rockwood classification system were simulated with the addition of horizontal posterior displacement. Projectional variations for each injury type were performed by tilting/rotating the Sawbone construct in the coronal, sagittal or axial plane. Radiographic imaging in the form of an anterior–posterior Zanca view and a lateral Alexander view were taken for each injury type and each projectional variation. Five newly defined radiographic parameters for assessing horizontal and vertical displacement as well as commonly used coracoclavicular distance view were measured. Reliability, validity and the effect of projectional variation were investigated for these radiographic measurements.ResultsAll radiographic parameters showed excellent intra- and interobserver reliability. The validity was excellent for the acromial centre line to dorsal clavicle (AC–DC) in vertical displacement and for the glenoid centre line to posterior clavicle (GC–PC) in horizontal displacement, whilst the remaining measurements showed moderate validity. For AC–DC and GC–PC, convergent validity expressed strong correlation to the effective distance and discriminant validity demonstrated its ability to differentiate between various grades of ACJ dislocations. The effect of projectional variation increased with the degree of deviation and was maximal (3 mm) for AC–DC in 20° anteverted malpositioning and for GC–PC in 20° retroverted malpositioning.ConclusionsAC–DC and the GC–PC are two novel quantitative radiographic parameters of vertical and horizontal instability in ACJ dislocations that demonstrate excellent reliability and validity with reasonable inertness to malpositioning. The use of AC–DC for assessing vertical displacement and GC–PC for assessing horizontal displacement in a single Alexander view is recommended to guide the appropriate management of ACJ dislocations. A better appreciation of the degree of horizontal instability, especially in lower Rockwood grades (II, III) of ACJ dislocations, may improve management of these controversial injuries.

The analytical reagent Nitron is a mesoionic compound whose structure consists of a cationic triazolium unit with an anionic PhN substituent. We provide clear evidence for the existence of a singlet diaminocarbene tautomer whose structure is composed of a 1,2,4-triazol-5-ylidene unit bearing an NHPh substituent.