Search results for "trance"

Gut Microbiota Analysis in Postoperative Lynch Syndrome Patients

2019

Lynch syndrome (LS) is a dominantly inherited condition with incomplete penetrance, characterized by high predisposition to colorectal cancer (CRC), endometrial and ovarian cancers, as well as to other tumors. LS is associated with constitutive DNA mismatch repair (MMR) gene defects, and carriers of the same pathogenic variants can show great phenotypic heterogeneity in terms of cancer spectrum. In the last years, human gut microbiota got a foothold among risk factors responsible for the onset and evolution of sporadic CRC, but its possible involvement in the modulation of LS patients’ phenotype still needs to be investigated. In this pilot study, we performed 16S rRNA gene sequencing of ba…

Developing a web-based system to create, deliver and assess language proficiency within the PAULEX Universitas Project

2011

This study aims to examine the feasibility of a number of technical solutions implemented in a web-based system designed for the creation and management of online language exams within PAULEX Universitas, a project for the development of an online platform to design, deliver and assess the foreign language exam within the Spanish national University Entrance Examination. The paper provides an overview of the context and a discussion of current changes in Spanish ministerial policies, followed by a description of the PAULEX testing platform and a discussion on the technological solutions adopted. Lastly, the paper reflects upon a quantitative analysis derived from a pilot experience conducte…

HEAT FLUX IN SUPERFLUID TRANSITION AND IN TURBULENT HELIUM COUNTERFLOW

Association of low-penetrance alleles with male breast cancer risk and clinicopathological characteristics: results from a multicenter study in Italy

2013

It is well-known that male breast cancer (MBC) susceptibility is mainly due to high-penetrance BRCA1/2 mutations. Here, we investigated whether common low-penetrance breast cancer (BC) susceptibility alleles may influence MBC risk in Italian population and whether variant alleles may be associated with specific clinicopathological features of MBCs. In the frame of the Italian Multicenter Study on MBC, we genotyped 413 MBCs and 745 age-matched male controls at 9 SNPs annotating known BC susceptibility loci. By multivariate logistic regression models, we found a significant increased MBC risk for 3 SNPs, in particular, with codominant models, for rs2046210/ESR1 (OR = 1.71; 95 % CI: 1.43–2.05;…

How Much of Familial Breast Cancer Risk is Currently Explained by the Known Genes?

2012

The need to answer the question “how much of the familial risk is currently explained by the known genes?” has increased ,and although BRCA1 and BRCA2 are considered the two major breast cancer (BC) susceptibility genes, they do not justify the entire percentage of all hereditary BC cases. The current consensus is that other BC predisposing genes could explain at least a portion of the remaining non-mutated familial cases, including not only other high- penetrance BC genes, but also moderate and low-penetrance genes. Considering these three different categories of genes, a gap of risk estimation in breast cancer can be observed. Moreover, different researchers tried to give significance to …

Correction:Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrom…

2020

Lynch syndrome (LS) results from pathogenic variants in the mismatch repair (MMR) genes and is the most common hereditary cancer syndrome, affecting an estimated 1 in 300 individuals. Pathogenic variants in each of the MMR genes path_MLH1, path_MSH2, path_MSH6, and path_PMS2 result in different risks for cancers in organs including the colorectum, endometrium, ovaries, stomach, small bowel, bile duct, pancreas, and upper urinary tract. Accurate estimates of these risks are essential for planning appropriate approaches to the prevention or early diagnosis of cancers but the robustness of previous studies has been limited by factors including retrospective design,1,2 lack of validation in ind…

Familial colorectal cancer risk: ESMO Clinical Practice Guidelines.

2010

Congenital lower lip pits : Van der Woude syndrome

2018

The Van der Woude syndrome is a rare autosomal dominant development malformation characterized by a paramedian lip pits and /or sinuses or conical elevation of lower lip associated with cleft lip and or palate. These congenital lip pits usually appear clinically in the vermilion border of lip, with or without secretion. The critical region of VWS has been identified to be at Iq32 to 41 with high, but incomplete penetrance and variable expressivity. Therapeutic intervention is generally required for cosmetic reason or when recurrent inflammation is present. Dental surgeon should be aware of this syndrome, as it is associated with variety of other congenital malformation. van der woude syndro…

Van der Woude syndrome- a syndromic form of orofacial clefting

2012

Van der Woude Syndrome is the most common form of syndromic orofacial clefting, accounting for 2% of all cases, and has the phenotype that most closely resembles the more common non-syndromic forms. The syndrome has an autosomal dominant hereditary pattern with variable expressivity and a high degree of penetrance with cardinal clinical features of lip pits with a cleft lip, cleft palate, or both. This case report describes van der Woude syndrome in a 19 year old male patient with a specific reference to the various aspects of this condition, as clinical appearance, etiological factors (genetic aspects), differential diagnosis, investigative procedures and management. Key words:Cleft palate…

CLEFT PALATE ONLY: CURRENT CONCEPTS

2017

Cleft palate only (CPO) is one of the most common congenital malformations worldwide. The etiopathogenesis of CPO is not completely understood. Environmental factors, such as smoking, alcohol consumption, intake of drugs during pregnancy, advanced paternal age, have been demonstrated to be a risk of CPO, but conflicting results have also been published. Insufficient intake of folic acid during the pregnancy has been suggested to increase the risk for CPO. The demonstrated risk for siblings and the higher risk for monozygotic twins suggest a genetic etiopathogenesis for CPO. In some cases of CPO a prevalent mode of inheritance has been reported, but oligogenic models with reduced penetrance,…