scholarly journals Cardiac Filaminopathies: Illuminating the Divergent Role of Filamin C Mutations in Human Cardiomyopathy

2021 ◽  
Vol 10 (4) ◽  
pp. 577
Author(s):  
Matthias Eden ◽  
Norbert Frey
Keyword(s):  
High Risk ◽  
Genetic Alterations ◽  
Myofibrillar Myopathy ◽  
Gene Encoding ◽  
Sarcomeric Protein ◽  
The Past ◽  
Tremendous Progress ◽  
Molecular Etiology ◽  
Filamin C

Over the past decades, there has been tremendous progress in understanding genetic alterations that can result in different phenotypes of human cardiomyopathies. More than a thousand mutations in various genes have been identified, indicating that distinct genetic alterations, or combinations of genetic alterations, can cause either hypertrophic (HCM), dilated (DCM), restrictive (RCM), or arrhythmogenic cardiomyopathies (ARVC). Translation of these results from “bench to bedside” can potentially group affected patients according to their molecular etiology and identify subclinical individuals at high risk for developing cardiomyopathy or patients with overt phenotypes at high risk for cardiac deterioration or sudden cardiac death. These advances provide not only mechanistic insights into the earliest manifestations of cardiomyopathy, but such efforts also hold the promise that mutation-specific pathophysiology might result in novel “personalized” therapeutic possibilities. Recently, the FLNC gene encoding the sarcomeric protein filamin C has gained special interest since FLNC mutations were found in several distinct and possibly overlapping cardiomyopathy phenotypes. Specifically, mutations in FLNC were initially only linked to myofibrillar myopathy (MFM), but are now increasingly found in various forms of human cardiomyopathy. FLNC thereby represents another example for the complex genetic and phenotypic continuum of these diseases.

scholarly journals How I treat CLL up front

Blood ◽  
2010 ◽  
Vol 115 (2) ◽  
pp. 187-197 ◽  
Author(s):  
John G. Gribben
Keyword(s):  
High Risk ◽  
Treatment Approach ◽  
The Elderly ◽  
Lymphocytic Leukemia ◽  
Watch And Wait ◽  
First Line ◽  
The Past ◽  
Risk Patients ◽  
Underlying Pathophysiology

AbstractAlthough chronic lymphocytic leukemia (CLL) remains incurable, over the past decade there have been major advances in understanding the pathophysiology of CLL and in the treatment of this disease. This has led to greatly increased response rates and durations of response but not yet improved survival. Advances in the use of prognostic factors that identify patients at high risk for progression have led us to the question whether there is still a role for a “watch and wait” approach in asymptomatic high-risk patients or whether they should be treated earlier in their disease course. Questions remain, including, what is the optimal first-line treatment and its timing and is there any role of maintenance therapy or stem cell transplantation in this disease? CLL is a disease of the elderly and not all patients are eligible for aggressive up-front chemoimmunotherapy regimens, so what is the optimal treatment approach for more frail elderly patients? It is highly likely that our treatment approaches will continue to evolve as the results of ongoing clinical trials are released and that further improvements in the outcome of this disease will result from identification of therapies that target the underlying pathophysiology of CLL.

scholarly journals DNA Methylation, Histone Modifications, and Signal Transduction Pathways: A Close Relationship in Malignant Gliomas Pathophysiology

2012 ◽  
Vol 2012 ◽  
pp. 1-8 ◽  
Author(s):  
Raúl Alelú-Paz ◽  
Nadia Ashour ◽  
Ana González-Corpas ◽  
Santiago Ropero
Keyword(s):  
Adult Population ◽  
Malignant Gliomas ◽  
Primary Brain Tumor ◽  
New Approach ◽  
Tremendous Progress ◽  
Close Relationship ◽  
Molecular Etiology ◽  
New Biomarkers ◽  
And Function

Gliomas are the most common type of primary brain tumor. Although tremendous progress has been achieved in the recent years in the diagnosis and treatment, its molecular etiology remains unknown. In this regard, epigenetics represents a new approach to study the mechanisms that control gene expression and function without changing the sequence of the genome. In the present paper we describe the main findings about the alterations of cell signaling pathways in the most aggressive glioma in the adult population, namely, glioblastoma, in which epigenetic mechanisms and the emerging role of cancer stem cell play a crucial function in the development of new biomarkers for its detection and prognosis and the corresponding development of new pharmacological strategies.

Breeding Forage Crop Meets the Needs of a Sustainable Agriculture

2014 ◽  
Vol 1073-1076 ◽  
pp. 1104-1107
Author(s):  
Hong Dao Zhang ◽  
Ping Chen ◽  
Jing Zhang ◽  
Ji Di Gao ◽  
Ji Lin Li ◽  
...  
Keyword(s):  
Sustainable Agriculture ◽  
World Economy ◽  
Transgenic Technology ◽  
Forage Crop ◽  
The Past ◽  
Tremendous Progress ◽  
Sustainable Agricultural Systems ◽  
Positive Effect ◽  
Made In

Sustainable agricultural systems tend to have a positive effect on natural, social and human capital, while unsustainable ones feedback to deplete these assets, leaving fewer for future generations. Forage crop are critical to sustainable agriculture and contribute extensively to the world economy. Tremendous progress has been made in genetic transformation of forage and turf grasses in the past decade. The rapida dvancement of cellular and molecular biology and transgenic technology provides novel methods to accelerate and complement conventional breeding efforts. This review summarizes the latest advances of breeding forage crop and introduces the development of sustainable agriculture as well as perspectives the important role of breeding forage crop in development of sustainable agriculture in the future.

scholarly journals Advances in understanding the molecular pathology of gynecological malignancies: the role and potential of RNA sequencing

2021 ◽  
pp. ijgc-2021-002509
Author(s):  
Alba Southern ◽  
Mona El-Bahrawy
Keyword(s):  
Rna Sequencing ◽  
Molecular Pathology ◽  
Transcript Abundance ◽  
Genetic Alterations ◽  
Gynecological Cancers ◽  
The Past ◽  
Sequencing Technologies ◽  
Technological Limitations ◽  
Generation Sequencing

For many years technological limitations restricted the progress of identifying the underlying genetic causes of gynecologicalcancers. However, during the past decade, high-throughput next-generation sequencing technologies have revolutionized cancer research. RNA sequencing has arisen as a very useful technique in expanding our understanding of genome changes in cancer. Cancer is characterized by the accumulation of genetic alterations affecting genes, including substitutions, insertions, deletions, translocations, gene fusions, and alternative splicing. If these aberrant genes become transcribed, aberrations can be detected by RNA sequencing, which will also provide information on the transcript abundance revealing the expression levels of the aberrant genes. RNA sequencing is considered the technique of choice when studying gene expression and identifying new RNA species. This is due to the quantitative and qualitative improvement that it has brought to transcriptome analysis, offering a resolution that allows research into different layers of transcriptome complexity. It has also been successful in identifying biomarkers, fusion genes, tumor suppressors, and uncovering new targets responsible for drug resistance in gynecological cancers. To illustrate that we here review the role of RNA sequencing in studies that enhanced our understanding of the molecular pathology of gynecological cancers.

ROLE OF INDIAN WOMEN IN SOCIO-ECONOMIC DEVELOPMENT

2015 ◽  
Vol 6 (01-02) ◽  
Author(s):  
Rajiv Agarwal
Keyword(s):  
Economic Development ◽  
Front Line ◽  
Indian Women ◽  
Social Stratum ◽  
Modern Times ◽  
The Past ◽  
Tremendous Progress ◽  
Socio Economic Development ◽  
Indian Values

After globalization the role of Indian woman has been phenomenal. Our Indian sub-continent is gradually emerging as a powerful land since empowered women have started playing significant role for the socio-economic development of the nation. The transition of woman from the past to present is worth mentioning. Woman who once considered being the masters in the art of home making are now considered to be the forces that shape a country. The modern Indian women have honed their skills and have come to front line to fight against social restrictions, emotional ties, religious boundaries, gender biasedness and cultural clutches. She can now be seen working on par with men in every walk of life. As compared with past, Indian women in modern times have achieved a lot but in reality they have to still travel a long way. Women have always been contributing to enable the economy achieve tremendous progress. But it is the gender bias that still exists at every social stratum, even in the most educated and developed society, is unable to account for the visible contribution of women in every field. The Indian women have come out of the image of ornamental value. Keeping the Indian values intact, the Indian women have surpassed all the limitation to find a place in the growing socio-economic scenario.

On Future Directions in Pathology

1982 ◽  
Vol 40 ◽  
pp. 274-277
Author(s):  
Benjamin F. Trump ◽  
Irene K. Berezesky ◽  
Raymond T. Jones
Keyword(s):  
Electron Microscopy ◽  
Transmission Electron Microscopy ◽  
Clinical Pathology ◽  
Future Directions ◽  
Diagnostic Pathology ◽  
The Past ◽  
Transmission Electron ◽  
Organ Systems ◽  
The Many

The role of electron microscopy and associated techniques is assured in diagnostic pathology. At the present time, most of the progress has been made on tissues examined by transmission electron microscopy (TEM) and correlated with light microscopy (LM) and by cytochemistry using both plastic and paraffin-embedded materials. As mentioned elsewhere in this symposium, this has revolutionized many fields of pathology including diagnostic, anatomic and clinical pathology. It began with the kidney; however, it has now been extended to most other organ systems and to tumor diagnosis in general. The results of the past few years tend to indicate the future directions and needs of this expanding field. Now, in addition to routine EM, pathologists have access to the many newly developed methods and instruments mentioned below which should aid considerably not only in diagnostic pathology but in investigative pathology as well.

DNA methylation in satellite repeats disorders

2019 ◽  
Vol 63 (6) ◽  
pp. 757-771 ◽  
Author(s):  
Claire Francastel ◽  
Frédérique Magdinier
Keyword(s):  
Dna Methylation ◽  
Human Genome ◽  
Repetitive Dna ◽  
Dna Sequences ◽  
Satellite Repeats ◽  
Tremendous Progress ◽  
Genes Encoding ◽  
Dna Elements ◽  
Near Future

Abstract Despite the tremendous progress made in recent years in assembling the human genome, tandemly repeated DNA elements remain poorly characterized. These sequences account for the vast majority of methylated sites in the human genome and their methylated state is necessary for this repetitive DNA to function properly and to maintain genome integrity. Furthermore, recent advances highlight the emerging role of these sequences in regulating the functions of the human genome and its variability during evolution, among individuals, or in disease susceptibility. In addition, a number of inherited rare diseases are directly linked to the alteration of some of these repetitive DNA sequences, either through changes in the organization or size of the tandem repeat arrays or through mutations in genes encoding chromatin modifiers involved in the epigenetic regulation of these elements. Although largely overlooked so far in the functional annotation of the human genome, satellite elements play key roles in its architectural and topological organization. This includes functions as boundary elements delimitating functional domains or assembly of repressive nuclear compartments, with local or distal impact on gene expression. Thus, the consideration of satellite repeats organization and their associated epigenetic landmarks, including DNA methylation (DNAme), will become unavoidable in the near future to fully decipher human phenotypes and associated diseases.

1610: High-Risk Patients Undergoing Radical Prostatectomy Today are Less High-Risk than in the Past

2005 ◽  
Vol 173 (4S) ◽  
pp. 436-436
Author(s):  
Christopher J. Kane ◽  
Martha K. Terris ◽  
William J. Aronson ◽  
Joseph C. Presti ◽  
Christopher L. Amling ◽  
...  
Keyword(s):  
High Risk ◽  
Radical Prostatectomy ◽  
High Risk Patients ◽  
The Past ◽  
Risk Patients
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