Search results for "normal"
showing 10 items of 2571 documents
No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Data…
2021
Background. Lynch syndrome is the most common genetic predisposition for hereditary cancer. Carriers of pathogenic changes in mismatch repair (MMR) genes have an increased risk of developing colorectal (CRC), endometrial, ovarian, urinary tract, prostate, and other cancers, depending on which gene is malfunctioning. In Lynch syndrome, differences in cancer incidence (penetrance) according to the gene involved have led to the stratification of cancer surveillance. By contrast, any differences in penetrance determined by the type of pathogenic variant remain unknown. Objective. To determine cumulative incidences of cancer in carriers of truncating and missense or aberrant splicing pathogenic …
Targeting epigenetic alterations in cancer stem cells
2022
Oncogenes or tumor suppressor genes are rarely mutated in several pediatric tumors and some early stage adult cancers. This suggests that an aberrant epigenetic reprogramming may crucially affect the tumorigenesis of these tumors. Compelling evidence support the hypothesis that cancer stem cells (CSCs), a cell subpopulation within the tumor bulk characterized by self-renewal capacity, metastatic potential and chemo-resistance, may derive from normal stem cells (NSCs) upon an epigenetic deregulation. Thus, a better understanding of the specific epigenetic alterations driving the transformation from NSCs into CSCs may help to identify efficacious treatments to target this aggressive subpopula…
EFFECT OF IMAGE NORMALIZATION ON CAROTID PLAQUE CLASSIFICATION AND THE RISK OF IPSILATERAL HEMISFERIC ISCHEMIC EVENTS. RESULTS FROM THE ASYMPTOMATIC …
2005
The aim of this study was to determine the effect of image normalization on plaque classification and the risk of ipsilateral ischemic neurologic events in patients with asymptomatic carotid stenosis. The first 1,115 patients recruited to the Asymptomatic Carotid Stenosis and Risk of Stroke (ACSRS) study with a follow-up of 6 to 84 months (mean 37.1 months) were included in this study. Duplex ultrasonography was used for grading the degree of internal carotid artery stenosis and for plaque characterization (types 1-5), which was performed before and after image normalization. One hundred sixteen ipsilateral ischemic hemispheric events occurred. Image normalization resulted in 60% of plaques…
$MC$-hypercentral groups
2007
This paper is devoted to the imposition of some chain conditions on groups having a generalized central series. It is also given a characterization of MC-groups with finite abelian section rank: such class of groups is a suitable enlargement of the class of FC-groups. Mathematics Subject Classification: 20F24; 20F14
Penetrant diffusion in frozen polymer matrices: A finite-size scaling study of free volume percolation
1996
The diffusion of penetrant particles in frozen polymer matrices is investigated by means of Monte Carlo simulations of the bond fluctuation model. By applying finite-size scaling to data obtained from very large systems it is demonstrated that the diffusion process takes place on a percolating free volume cluster describable by a correlated site percolation model which falls into the same universality class as random percolation. The diverging correlation length entails a pronounced dependence of the diffusion constant on the size of the simulated system. It is shown that this dependence is appreciable for a wide range of parameters around the transition. \textcopyright{} 1996 The American …
Low-temperature specific heat of orientational glasses
1992
This review summarizes specific heat data measured at low temperatures (T<1 K) on orientational glasses. Three species of mixed molecular crystals exhibiting orientational disorder are considered, namely (KBr)1−x (KCN) x , (NaCN)1−x (KCN) x (Rb)1−x (NH4) x H2PO4. For intermediate concentrations of the anisotropic components, glass-like excitations have been observed. It is demonstrated that with respect to thermal properties, orientational disorder leads to the same “universal” behaviours than for structural disorder, i.e. a specific heat which varies below 1 K and for times 10−4 s–10 s as:C p(T,t)∞T 1×ln(t). The variation of the glass-like anomaly with compositional disorder is also discus…
Die herstellung molekulareinheitlicher leiteroligomerer und einer molekulareinheitlichen hexaacrylsäure. IV. Mitt.: Modelle für matrizenreaktionen
1968
Die phenolischen Hydroxylgruppen molekulareinheitlicher Mehrkernverbindungen mit vier und funf pKresolbausteinen je Molekul konnten vollstandig mit Acrylsaurechlorid in Gegenwart von Triathylamin verestert werden. Lies man auf die in siedendem Benzol stark verdunnten mehrafachen Acrylsaureester einen Uberschus an Radikalen aus α.α′-Azoisobutyrodinitril einwirken, so bildeten sich mit guter Ausbeute molekulareinheitliche, dunnschichtchromatographisch reine Leiteroligomere. Die alkalische Verseifung des Leiteroilgomeren mit vier p-Kresolbausteinen gab eine molekulareinheitliche Hexaacrylsaure, die als Hexamethylester durch Elementaranalyse und Molekulargewicht charakterisiert wurde; die gefun…
Contributions to the application of the transferability principle and the multipolar modeling of H atoms: electron-density study of L-histidinium dih…
2006
The electron density of L-histidinium dihydrogen orthophosphate orthophosphoric acid has been determined from X-ray and neutron diffraction data at low temperature (120 K). Topological analysis of the electron density has been used to analyse the effect of the multipolar refinement strategy on the electron-density model in the hydrogen-bonding regions. The electron density at low temperature has also been used to acquire high-quality experimental thermal parameters at room temperature using the transferability principle. Molecular vibrations, TLS and normal mode analysis are discussed and studied at both temperatures.
DOUBLE TRANSVERSE FORAMEN IN INFANTILE CERVICAL VERTEBRAE OF THE LATE 17TH AND EARLY 18TH CENTURIES. Doble foramen transverso en las vértebras infant…
2016
La presencia de doble foramen transverso es una variante anatómica que se observa con frecuencia en el raquis cervical inferior y que presenta implicaciones clínicas en relación con la arteria vertebral. Aunque en la actualidad existe cierta controversia acerca de si el origen de esta variante cervical es congénito o adquirido, y a pesar de que la presencia de doble foramen transverso en población infantil descartaría un origen degenerativo-artrósico, se encuentra una falta de información acerca de su presencia en vértebras cervicales infantiles. En este sentido, nuestro objetivo ha sido analizar la presencia de doble foramen transverso en vértebras cervicales infantiles procedentes de rest…
Normal-weight obesity and cardiometabolic risk : A 7-year longitudinal study in girls from prepuberty to early adulthood
2017
Objective: To study whether normal-weight obesity in childhood is associated with increased cardiometabolic risk in early adulthood. Methods: This study assessed data for 236 girls followed from prepuberty to early adulthood. Growth chart data were obtained from birth to 18 years. Body composition was assessed by dual-energy x-ray absorptiometry and cardiometabolic risk by calculating continuous clustered risk score (at ages 11, 14, and 18). The association of body weight status with cardiometabolic risk from childhood to early adulthood was examined. Results: Subjects with normal-weight obesity were virtually indistinguishable from their normal-weight lean peers in terms of relative body w…