Inherited PTEN mutations and the prediction of phenotype

AbstractPTEN has been heavily studied due to its role as a tumour suppressor and as a core inhibitory component of the phosphoinositide 3-kinase (PI3K) signalling network. It is a broadly expressed phosphatase which displays complexity and diversity in both its functions and regulation and accordingly, in the laboratory numerous classes of functionally distinct mutations have been generated. Inherited loss of function mutations in the PTEN gene were originally identified in sufferers of Cowden disease, but later shown to associate with more diverse human pathologies, mostly relating to cell and tissue overgrowth, leading to the use of the broader term, PTEN Hamartoma Tumour Syndrome. Recent phenotypic analysis of clinical cohorts of PTEN mutation carriers, combined with laboratory studies of the consequences of these mutations implies that stable catalytically inactive PTEN mutants may lead to the most severe phenotypes, and conversely, that mutants retaining partial function associate more frequently with a milder phenotype, with autism spectrum disorder often being diagnosed. Future work will be needed to confirm and to refine these genotype–phenotype relationships and convert this developing knowledge into improved patient management and potentially treatment with emerging drugs which target the PI3K pathway

PTEN (phosphatase and tensin homolog deleted on chromosome ten)

Review on PTEN (phosphatase and tensin homolog deleted on chromosome ten), with data on DNA, on the protein encoded, and where the gene is implicated

Natural kinds: a new synthesis

¿Qué es una clase natural? Esta pregunta filosófica, antigua pero perdurable, ha recibido recientemente nuevas respuestas enfrentadas (e.g., Chakravartty, 2007; Magnus, 2014; Khalidi, 2013; Slater, 2015; Ereshefsky and Reydon, 2015). En este artículo mostramos que los principales ingredientes para una explicación abarcadora y coherente de las clases naturales están de hecho disponibles, aunque a la espera de una articulación apropiada. Adoptando una perspectiva no reduccionista, naturalista y no conceptualista, elaboramos una nueva síntesis a partir de estos ingredientes. Nuestra propuesta es una teoría de las clases naturales que los define en términos puramente ontológicos, que distingue y relaciona claramente cuestiones ontológicas y epistemológicas -en concreto, dos tipos de descripción ontológica y dos formas de éxito explicativo para las clases naturales-, y que arroja luz sobre por qué las clases naturales desempeñan un papel epistémico tanto en la ciencia como en la vida cotidiana.; What is a natural kind? This old yet lasting philosophical question has recently received new competing answers (e.g., Chakravartty, 2007; Magnus, 2014; Khalidi, 2013; Slater, 2015; Ereshefsky and Reydon, 2015). We show that the main ingredients of an encompassing and coherent account of natural kinds are actually on the table, but in need of the right articulation. It is by adopting a non-reductionist, naturalistic and non-conceptualist approach that, in this paper, we elaborate a new synthesis of all these ingredients. Our resulting proposition is a multiple-compartment theory of natural kinds that defines them in purely ontological terms, clearly distinguishes and relates ontological and epistemological issues - more precisely, two grains of ontological descriptions and two grains of explanatory success of natural kinds -, and which sheds light on why natural kinds play an epistemic role both within science and in everyday life

Cervical spondylitis and spinal abscess due to Actinomyces meyeri

AbstractHuman actinomycosis with involvement of the spine is a rare condition although it has been first described a long time ago. It is probably underrecognized since its clinical presentation is often misleading and accurate bacteriological diagnosis is challenging. We herein report a rare case of cervical actinomycosis with paravertebral abscess and spondylitis imputed to an infection by Actinomyces meyeri in a 52-year-old immunocompetent Caucasian man. A. meyeri should be considered as a potential cause for subacute or chronic spondylitis, even in immunocompetent subjects. Modern diagnostic tools such as Matrix-Assisted Laser Desorption–Ionization Time of Flight mass spectrometry and 16S rRNA sequencing are efficient for accurate microbiological identification

Rituximab Efficacy during a Refractory Polyarteritis Nodosa Flare

Polyarteritis nodosa (PAN) is a systemic vasculitis whose severe forms are treated with glucocorticoids and cyclophosphamide. Refractory patients are exposed to many complications, notably accelerated atherosclerosis. We report a case report of 71-year-old man followed for polyarteritis nodosa refractory to glucocorticoids and cyclosphosphamide. Systemic vasculitis relapses are followed to accelerated atherosclerosis: severe ischemic lesions led to amputation of lower limbs. Remission of refractory PAN is obtained with rituximab. Disappearance of biological inflammatory is allowed to regression of ischemic lesions in upper limbs. In this situation, we recommend a systematic vascular work-up for patients suffered from refractory vasculitis. On the other hand, therapeutic trials are needed to determine the real efficacy and place of rituximab in the treatment of polyarteritis nodosa

Breast tumors: an overview

Review on Breast tumors: an overview, with data on clinics, and the genes involved

Student use of Brühl Boulevard Chemnitz

Diese Bachelor Arbeit, soll durch die genaue Betrachtung des Standortumfeldes (insbesondere des Brühl Boulevards), die Auseinandersetzung mit der Zielgruppe Studenten und der Identifikation möglicher Investoren Anregungen, den Verkauf des Gebäudes August-Bebel Str. 11 -13 betreffend, geben

Shock-wave induced compressive stress on alumina ceramics by laser peening

Laser shock peening (LSP) of Al2O3 advanced ceramics is reported, showing underpinned physical mechanisms and potential benefits. It is known that localised plastic deformation can be induced in ceramics in the presence of a high hydrostatic pressure. It is therefore of high interest to apply LSP on large surface areas on ceramics in order to create a strengthening mechanism. An Nd: YAG laser was used for the study at an increment of 1 J, 1.5 J and 1.7 J laser energy. The LSP surface treatment was characterized using a 3-D surface profiler and a Cr3+ fluorescence spectroscopy from which residual stress and dislocation densities were determined after mapping with acquired Cr3+ fluorescence spectra. The results showed an increase in roughness by 10% at 1 J, to 62% at 1.5 J, and 95% at 1.7 J of laser energy. The net compressive stress increased from 104 MPa at 1 J, to 138 MPa at 1.5 J and 168 MPa at 1.7 J. The highest dislocation density was 2.0 × 1014 1/m2 and an average of 2.1 × 1013 1/m2 within the low compression zone at 1.5 J of laser energy. These results have shown a way forward to not only generate local plastic deformation, but open up a new avenue towards strengthening ceramics using laser peening technology