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Diagnostic implications of intrapatient genetic tumor heterogeneity
2015
The complex genetic composition of neuroblastoma emphasizes the importance of conscientious and meticulous diagnosis. Clones with amplification or segmental chromosomal aberrations sometimes remain hidden. Several determinations should be performed when sufficient tumor material is available to establish the final diagnosis by combining the results of different techniques on tumor fragments or liquid biopsies.
Update on oral-facial-digital syndromes (OFDS)
2016
Oral-facial-digital syndromes (OFDS) represent a heterogeneous group of rare developmental disorders affecting the mouth, the face and the digits. Additional signs may involve brain, kidneys and other organs thus better defining the different clinical subtypes. With the exception of OFD types I and VIII, which are X-linked, the majority of OFDS is transmitted as an autosomal recessive syndrome. A number of genes have already found to be mutated in OFDS and most of the encoded proteins are predicted or proven to be involved in primary cilia/basal body function. Preliminary data indicate a physical interaction among some of those proteins and future studies will clarify whether all OFDS prote…
Genomic Imprinting and the Regulation of Postnatal Neurogenesis
2017
Most genes required for mammalian development are expressed from both maternally and paternally inherited chromosomal homologues. However, there are a small number of genes known as “imprinted genes” that only express a single allele from one parent, which is repressed on the gene from the other parent. Imprinted genes are dependent on epigenetic mechanisms such as DNA methylation and post-translational modifications of the DNA-associated histone proteins to establish and maintain their parental identity. In the brain, multiple transcripts have been identified which show parental origin-specific expression biases. However, the mechanistic relationship with canonical imprinting is unknown. R…
The dark side of centromeres: types, causes and consequences of structural abnormalities implicating centromeric DNA
2018
Centromeres are the chromosomal domains required to ensure faithful transmission of the genome during cell division. They have a central role in preventing aneuploidy, by orchestrating the assembly of several components required for chromosome separation. However, centromeres also adopt a complex structure that makes them susceptible to being sites of chromosome rearrangements. Therefore, preservation of centromere integrity is a difficult, but important task for the cell. In this review, we discuss how centromeres could potentially be a source of genome instability and how centromere aberrations and rearrangements are linked with human diseases such as cancer.
Association of susceptible genotypes to periodontal disease with the clinical outcome and tooth survival after non-surgical periodontal therapy: A sy…
2015
Background The real clinical utility of genetic testing is the prognostic value of genetic factors in the clinical outcome of periodontal treatment and the tooth survival. A meta-analysis was undertaken to estimate the effect of a susceptible genotype to periodontitis on the clinical outcomes of non-surgical periodontal therapy and the tooth survival. Material and Methods A systematic search of MEDLINE-Pubmed, Cochrane Library and Scopus was performed. Additionally, a hand search was done in three journals. No specific language restriction was applied. Two reviewers screened independently titles and abstracts or full text copies. Quality assessment of all the included studies was held. Resu…
Oxidative stress and exceptional human longevity: Systematic review.
2020
Oxidative stress (OS) has been previously linked to the aging process, as have some diseases and geriatric syndromes as frailty and sarcopenia. The aim of the present study was to perform a systematic review on oxidative stress activity and extreme longevity in humans.We conducted a systematic literature review following the PRISMA guidelines. Observational studies assessing OS-biomarkers and/or antioxidants in long-lived individuals (97 years old or over) comparing them to those of one or more age groups, (at least one of which from comprising elderly subjects) were considered for inclusion. A narrative synthesis was planned. Quality of selected studies was assessed using the Newcastle-Ott…
Physical Activity and Nutrition INfluences In ageing (PANINI): consortium mission statement
2018
First paragraph: Current demographic trends indicate that by the year 2020, almost one in five of the European population will be aged 65 years or over. Although life expectancy is increasing by 2 years per decade, the period of life spent in good health is not keeping pace and most Europeans spend their last decade in poor health. Consequently, there is an urgent need to understand how lifestyle factors can influence age-related changes from gene to society level and how they may be integrated into a net effect of healthy ageing. It is also crucial to develop and validate interventions and health policies to ensure that more of our older adults have a healthy and active later life. This is…
Determinants of diet and physical Activity (DEDIPAC): a summary of findings
2017
The establishment of the Determinants of Diet and Physical Activity (DEDIPAC) Knowledge Hub, 2013 – 2016, was the first action taken by the ‘ Healthy Diet for a Healthy Life ’ European Joint Programming Initiative. DEDIPAC aimed to provide better insight into the determinants of diet, physical activity and sedentary behaviour across the life course, i.e. insight into the causes of the causes of important, non-commu nicable diseases across Europe and beyond. DEDIPAC was launched in late 2013, and delivered its final report in late 2016. In this paper we give an overview of what was achieved in terms of furthering measurement and monitoring, providing overviews of the state-of-the-art in the …
A Guide to Applying the Sex-Gender Perspective to Nutritional Genomics
2018
Precision nutrition aims to make dietary recommendations of a more personalized nature possible, to optimize the prevention or delay of a disease and to improve health. Therefore, the characteristics (including sex) of an individual have to be taken into account as well as a series of omics markers. The results of nutritional genomics studies are crucial to generate the evidence needed so that precision nutrition can be applied. Although sex is one of the fundamental variables for making recommendations, at present, the nutritional genomics studies undertaken have not analyzed, systematically and with a gender perspective, the heterogeneity/homogeneity in gene-diet interactions on the diffe…
Loneliness, Social Isolation, and Cardiovascular Health
2018
Abstract Significance: Social and demographic changes have led to an increased prevalence of loneliness and social isolation in modern society. Recent Advances: Population-based studies have demonstrated that both objective social isolation and the perception of social isolation (loneliness) are correlated with a higher risk of mortality and that both are clearly risk factors for cardiovascular disease (CVD). Lonely individuals have increased peripheral vascular resistance and elevated blood pressure. Socially isolated animals develop more atherosclerosis than those housed in groups. Critical Issues: Molecular mechanisms responsible for the increased cardiovascular risk are poorly understoo…