scholarly journals Genomic Research and Incidental Findings

2008 ◽  
Vol 36 (2) ◽  
pp. 292-297 ◽  
Author(s):  
Brian Van Ness
Keyword(s):  
Medical Practice ◽  
Incidental Findings ◽  
Treatment Decisions ◽  
Research Community ◽  
Genomic Research ◽  
Patient Understanding ◽  
Medical Genomics ◽  
Genetic Abnormalities ◽  
Health And Disease

Medical practice is poised to incorporate genomescale testing into treatment decisions. However, broad genome testing in laboratories may lead to discoveries not anticipated, yet highly significant to the health of the patient. Understanding the complexity of our genome and its relationship to our health is an overwhelming task. Currently, much of the effort to unravel this complexity is in the realm of research. However, researchers are often neither qualified nor prepared to deal with incidental findings of genetic abnormalities that influence health and disease. These incidental observations, referred to recently by Issac Kohane et al. as the “incidentalome,” may lead to complex legal, ethical, and financial problems that may seriously complicate the role of the research community in medical genomics. Currently, most genetics researchers, while aware of the potential for incidental findings, simply do not want to deal with them.

scholarly journals International Policies on Sharing Genomic Research Results with Relatives: Approaches to Balancing Privacy with Access

2015 ◽  
Vol 43 (3) ◽  
pp. 576-593
Author(s):  
Rebecca Branum ◽  
Susan M. Wolf
Keyword(s):  
Genetic Risk ◽  
Incidental Findings ◽  
Research Community ◽  
Genomic Research ◽  
Return Of Results ◽  
Research Results ◽  
International Policies

Debate over return of results and incidental findings to participants in genetic and genomic research has exploded over the last decade. At this point, there is wide agreement that investigators have a responsibility to anticipate discovery of findings that may warrant return, to incorporate in protocols a plan for evaluating such findings, and to offer at least some of these results to participants consenting to such return. However, the issue of how to handle questions from a participant’s genetic relatives about their own risk, or whether investigators should alert relatives to a genetic risk they may share, has garnered much less attention. Only recently has the genomic research community begun to debate these questions and offer recommendations.

Quality assurance and quality improvement in medical practice – Part 1. Definition and importance of quality in medical practice

2012 ◽  
Vol 153 (3) ◽  
pp. 83-92
Author(s):  
Sándor Gődény
Keyword(s):  
Quality Assurance ◽  
Health Status ◽  
Quality Management ◽  
Medical Practice ◽  
Quality Measurement ◽  
The European Union ◽  
Management Quality ◽  
Hungarian Population ◽  
Healthcare Finance

In Hungary healthcare finance has decreased in proportion with the GDP, while the health status of the population is still ranks among the worst in the European Union. Since healthcare finance is not expected to increase, the number of practicing doctors per capita is continuously decreasing. In the coming years it is an important question that in this situation what methods can be used to prevent further deterioration of the health status of the Hungarian population, and within this is the role of the quality approach, and different methods of quality management. In the present and the forthcoming two articles those standpoints will be summarized which support the need for the integration of quality assurance in the everyday medical practice. In the first part the importance of quality thinking, quality management, quality assurance, necessity of quality measurement and improvement, furthermore, advantages of the quality systems will be discussed. Orv. Hetil., 2012, 153, 83–92.

A Brief Statement on the Future of Public Scholarship and the Research Methods Landscape

2019 ◽  
pp. 700-707
Author(s):  
Patricia Leavy
Keyword(s):  
Research Methods ◽  
Teaching Practices ◽  
Knowledge Building ◽  
Research Community ◽  
The State ◽  
Public Scholarship ◽  
Institutional Structures ◽  
The Future ◽  
Book Editor

The book editor offers some final comments about the state of the field and promise for the future. Leavy suggests researchers consider using the language of “shapes” to talk about the forms their research takes and to highlight the ongoing role of the research community in shaping knowledge-building practices. She reviews the challenges and rewards of taking your work public. Leavy concludes by noting that institutional structures need to evolve their rewards criteria in order to meet the demands of practicing contemporary research and suggests that professors update their teaching practices to bring the audiences of research into the forefront of discussions of methodology.

scholarly journals Chromosome Instability, Aging and Brain Diseases

Cells ◽  
2021 ◽  
Vol 10 (5) ◽  
pp. 1256
Author(s):  
Ivan Y. Iourov ◽  
Yuri B. Yurov ◽  
Svetlana G. Vorsanova ◽  
Sergei I. Kutsev
Keyword(s):  
Brain Aging ◽  
Chromosome Instability ◽  
Neuronal Cell Death ◽  
Neuronal Cell ◽  
Accelerated Aging ◽  
Brain Diseases ◽  
Aging Brain ◽  
Ontogenetic Changes ◽  
Health And Disease

Chromosome instability (CIN) has been repeatedly associated with aging and progeroid phenotypes. Moreover, brain-specific CIN seems to be an important element of pathogenic cascades leading to neurodegeneration in late adulthood. Alternatively, CIN and aneuploidy (chromosomal loss/gain) syndromes exhibit accelerated aging phenotypes. Molecularly, cellular senescence, which seems to be mediated by CIN and aneuploidy, is likely to contribute to brain aging in health and disease. However, there is no consensus about the occurrence of CIN in the aging brain. As a result, the role of CIN/somatic aneuploidy in normal and pathological brain aging is a matter of debate. Still, taking into account the effects of CIN on cellular homeostasis, the possibility of involvement in brain aging is highly likely. More importantly, the CIN contribution to neuronal cell death may be responsible for neurodegeneration and the aging-related deterioration of the brain. The loss of CIN-affected neurons probably underlies the contradiction between reports addressing ontogenetic changes of karyotypes within the aged brain. In future studies, the combination of single-cell visualization and whole-genome techniques with systems biology methods would certainly define the intrinsic role of CIN in the aging of the normal and diseased brain.

scholarly journals The Role of Cell Metabolism in Innate Immune Memory

2020 ◽  
pp. 1-9
Author(s):  
Anaisa Valido Ferreira ◽  
Jorge Domiguéz-Andrés ◽  
Mihai Gheorghe Netea
Keyword(s):  
Metabolic Pathways ◽  
Tricarboxylic Acid Cycle ◽  
Cell Metabolism ◽  
Innate Immune ◽  
Immune Memory ◽  
Functional Changes ◽  
Trained Immunity ◽  
Health And Disease

Immunological memory is classically attributed to adaptive immune responses, but recent studies have shown that challenged innate immune cells can display long-term functional changes that increase nonspecific responsiveness to subsequent infections. This phenomenon, coined <i>trained immunity</i> or <i>innate immune memory</i>, is based on the epigenetic reprogramming and the rewiring of intracellular metabolic pathways. Here, we review the different metabolic pathways that are modulated in trained immunity. Glycolysis, oxidative phosphorylation, the tricarboxylic acid cycle, amino acid, and lipid metabolism are interplaying pathways that are crucial for the establishment of innate immune memory. Unraveling this metabolic wiring allows for a better understanding of innate immune contribution to health and disease. These insights may open avenues for the development of future therapies that aim to harness or dampen the power of the innate immune response.

scholarly journals Inhibition of histone methyltransferase G9a attenuates liver cancer initiation by sensitizing DNA-damaged hepatocytes to p53-induced apoptosis

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Takuma Nakatsuka ◽  
Keisuke Tateishi ◽  
Hiroyuki Kato ◽  
Hiroaki Fujiwara ◽  
Keisuke Yamamoto ◽  
...  
Keyword(s):  
Dna Damage ◽  
Epigenetic Modification ◽  
Histone Methyltransferase ◽  
Preventive Strategy ◽  
Tumor Initiation ◽  
Liver Transcriptome ◽  
Genetic Abnormalities ◽  
Responsive Element ◽  
Induced Apoptosis

AbstractWhile the significance of acquired genetic abnormalities in the initiation of hepatocellular carcinoma (HCC) has been established, the role of epigenetic modification remains unknown. Here we identified the pivotal role of histone methyltransferase G9a in the DNA damage-triggered initiation of HCC. Using liver-specific G9a-deficient (G9aΔHep) mice, we revealed that loss of G9a significantly attenuated liver tumor initiation caused by diethylnitrosamine (DEN). In addition, pharmacological inhibition of G9a attenuated the DEN-induced initiation of HCC. After treatment with DEN, while the induction of γH2AX and p53 were comparable in the G9aΔHep and wild-type livers, more apoptotic hepatocytes were detected in the G9aΔHep liver. Transcriptome analysis identified Bcl-G, a pro-apoptotic Bcl-2 family member, to be markedly upregulated in the G9aΔHep liver. In human cultured hepatoma cells, a G9a inhibitor, UNC0638, upregulated BCL-G expression and enhanced the apoptotic response after treatment with hydrogen peroxide or irradiation, suggesting an essential role of the G9a-Bcl-G axis in DNA damage response in hepatocytes. The proposed mechanism was that DNA damage stimuli recruited G9a to the p53-responsive element of the Bcl-G gene, resulting in the impaired enrichment of p53 to the region and the attenuation of Bcl-G expression. G9a deletion allowed the recruitment of p53 and upregulated Bcl-G expression. These results demonstrate that G9a allows DNA-damaged hepatocytes to escape p53-induced apoptosis by silencing Bcl-G, which may contribute to the tumor initiation. Therefore, G9a inhibition can be a novel preventive strategy for HCC.

scholarly journals Recommendations for the Management of Incidental Pancreatic Findings in Adults by the Canadian Association of Radiologists Incidental Findings Working Group

2021 ◽  
pp. 084653712110210
Author(s):  
Christopher I. Fung ◽  
David L. Bigam ◽  
Clarence K. W. Wong ◽  
Casey Hurrell ◽  
Jeffery R. Bird ◽  
...  
Keyword(s):  
Working Group ◽  
Incidental Findings ◽  
Practice Patterns ◽  
Cost Effective ◽  
Pancreatic Cysts ◽  
Canadian Association ◽  
Pancreatic Calcifications ◽  
Fatty Atrophy ◽  
Anatomic Variants

The Canadian Association of Radiologists Incidental Findings Working Group consists of both academic subspecialty and general radiologists and is tasked with adapting and expanding upon the American College of Radiology incidental findings white papers to more closely apply to Canadian practice patterns, particularly more comprehensively dealing with the role of ultrasound and pursuing more cost-effective approaches to the workup of incidental findings without compromising patient care. Presented here are the 2021 Canadian guidelines for the management of pancreatic incidental findings. Topics covered include anatomic variants, fatty atrophy, pancreatic calcifications, ductal ectasia, and management of incidental pancreatic cysts.

scholarly journals Role of Insulin in Health and Disease: An Update

2021 ◽  
Vol 22 (12) ◽  
pp. 6403
Author(s):  
Md Saidur Rahman ◽  
Khandkar Shaharina Hossain ◽  
Sharnali Das ◽  
Sushmita Kundu ◽  
Elikanah Olusayo Adegoke ◽  
...  
Keyword(s):  
Insulin Signaling ◽  
Basic Research ◽  
Future Research ◽  
Protective Effects ◽  
Glucose Levels ◽  
Physiological Processes ◽  
Blood Glucose Levels ◽  
Wide Range ◽  
Health And Disease

Insulin is a polypeptide hormone mainly secreted by β cells in the islets of Langerhans of the pancreas. The hormone potentially coordinates with glucagon to modulate blood glucose levels; insulin acts via an anabolic pathway, while glucagon performs catabolic functions. Insulin regulates glucose levels in the bloodstream and induces glucose storage in the liver, muscles, and adipose tissue, resulting in overall weight gain. The modulation of a wide range of physiological processes by insulin makes its synthesis and levels critical in the onset and progression of several chronic diseases. Although clinical and basic research has made significant progress in understanding the role of insulin in several pathophysiological processes, many aspects of these functions have yet to be elucidated. This review provides an update on insulin secretion and regulation, and its physiological roles and functions in different organs and cells, and implications to overall health. We cast light on recent advances in insulin-signaling targeted therapies, the protective effects of insulin signaling activators against disease, and recommendations and directions for future research.

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