scholarly journals CD markers polymorphisms as prognostic biomarkers in hematological malignancies

2020 ◽  
Vol 14 (2) ◽  
Author(s):  
Saeid Shahrabi ◽  
Majid Ghanavat ◽  
Masumeh Maleki Behzad ◽  
Daryush Purrahman ◽  
Najmaldin Saki
Keyword(s):  
English Language ◽  
Hematological Malignancies ◽  
Relevant Literature ◽  
Response To Therapy ◽  
Prognostic Biomarkers ◽  
Response To Treatment ◽  
Nucleotide Polymorphisms ◽  
Genetic Changes ◽  
Cd Marker ◽  
Cd Markers

The clusters of differentiation (CD) are surface molecules used for immunophenotyping of cells. The expression of CD markers is widely used to classify hematological malignancies, including leukemia and lymphoma. Single nucleotide polymorphisms (SNPs) are crucial genetic changes that can be associated with abnormal expression and function of CD markers. In this paper, we assess the prognostic effect of CD markers’ SNPs in hematological malignancies. Materials and methods and relevant literature was identified by a PubMed search (2001-2019) of English language papers using the following terms: ‘polymorphism’, ‘CD marker’, ‘leukemia’, ‘lymphoma’, ‘prognosis’, ‘CD marker’, and ‘polymorphism’. Many studies have demonstrated the effects of CD markers’ polymorphisms on risk of hematological malignancies. Also, SNPs of CD markers can be related with clinicopathological features, invasiveness, and response to therapy of these disorders. Considering the importance of SNPs in the expressions of CD markers, these genetic changes could be used as potential prognostic biomarkers in hematological malignancies. It is hoped that the evaluation of SNPs in CD markers will enable early diagnosis, prognosis, and detection of response to treatment. However, better understanding of SNPs in CD markers that are involved in hematological malignancies requires further studies on different populations of the worldwide.

Expression of Blood Cells Associated CD Markers and Cardiovascular Diseases: Clinical Applications in Prognosis

2019 ◽  
Author(s):  
Habib Haybar ◽  
Masumeh Maleki Behzad ◽  
Saeid Shahrabi ◽  
Narges Ansari ◽  
Najmaldin Saki
Keyword(s):  
Cardiovascular Diseases ◽  
Blood Cells ◽  
English Language ◽  
Relevant Literature ◽  
Differentiation Markers ◽  
Pubmed Search ◽  
And Function ◽  
Cd Marker ◽  
Cluster Of Differentiation ◽  
Cd Markers

Abstract Background Cardiovascular diseases (CVDs) are a major cause of mortality worldwide. The results of various studies have shown that abnormality in the frequency and function of blood cells can be involved in CVD complications. In this review, we have focused on abnormalities in the expression of the CD (cluster of differentiation) markers of blood cells to assess the association of these abnormalities with CVD prognosis. Methods We identified the relevant literature through a PubMed search (1990–2018) of English-language articles using the terms “Cardiovascular diseases”, “CD markers”, “leukocytes”, “platelets”, and “endothelial cells”. Results There is a variety of mechanisms for the effect of CD-marker expressions on CVDs prognosis, ranging from proinflammatory processes to dysfunctional effects in blood cells. Conclusion Considering the possible effects of CD-marker expression on CVDs prognosis, particularly prognosis of acute myocardial infarction and atherosclerosis, long-term studies in large cohorts are required to identify the prognostic value of CD markers and to target them with appropriate therapeutic agents.

scholarly journals EGFR as a clinical marker in glioblastomas and other gliomas

2017 ◽  
Vol 33 (1) ◽  
pp. 22-32 ◽  
Author(s):  
Fadi S. Saadeh ◽  
Rami Mahfouz ◽  
Hazem I. Assi
Keyword(s):  
Point Mutations ◽  
Growth Factor Receptor ◽  
Copy Number Variations ◽  
Response To Therapy ◽  
Response To Treatment ◽  
Medical Community ◽  
Nucleotide Polymorphisms ◽  
Egfr Gene ◽  
Transmembrane Glycoprotein ◽  
Gene Alterations

Epidermal growth factor receptor (EGFR) is a transmembrane glycoprotein and a member of the tyrosine kinase superfamily receptor. Gliomas are tumors originating from glial cells, which show a range of aggressiveness depending on grade and stage. Many EGFR gene alterations have been identified in gliomas, especially glioblastomas, including amplifications, deletions and single nucleotide polymorphisms (SNPs). Glioblastomas are discussed as a separate entity due to their high correlation with EGFR mutants and the reported association of the latter with survival and response to treatment in this glioma subgroup. This review is a comprehensive report of EGFR gene alterations and their relations with several clinical factors in glioblastomas and other gliomas. It covers all EGFR gene alterations including point mutations, SNPs, methylations, copy number variations and amplifications, assessed with regard to different clinical variables, including response to therapy and survival. This review also discusses the current prognostic status of EGFR in glioblastomas and other gliomas, and highlights gaps in previous studies. This serves as an update for the medical community about the role of EGFR gene alterations in gliomas and specifically glioblastomas, as a means for targeted treatment and prognosis.

INTERVERTEBRAL DISC DEGENERATION LINKED TO STRUCTURAL GENE VARIATIONS

2019 ◽  
Author(s):  
Saeeda Baig
Keyword(s):  
Intervertebral Disc ◽  
Disc Degeneration ◽  
Intervertebral Disc Degeneration ◽  
English Language ◽  
Tandem Repeats ◽  
Lumbar Disc ◽  
Disease Process ◽  
Nucleotide Polymorphisms ◽  
Structural Protein ◽  
Lumbar Disc Degeneration

During the recent past focus has shifted from identifying intervertebral disc degeneration as being caused by physical exposure and strain to being linked with a variety of genetic variations. The objective of this review is to provide an up to date review of the existing research data regarding the relation of intervertebral disc degeneration to structural protein genes and their polymorphisms and thus help clearly establish further avenues where research into causation and treatment is needed. A comprehensive search using the keywords “Collagen”, “COL”, “Aggrecan”, “AGC”, “IVDD”, “intervertebral disc degeneration”, and “lumbar disc degeneration” from PubMed and Google Scholar, where literature in the English language was selected spanning from 1991 to 2019. There are many genes involved in the production of structural components of an intervertebral disc. The issues in production of these components involve the over-expression or under-expression of their genes, and single nucleotide polymorphisms and variable number of tandem repeats affecting their structures. These structural genes include primarily the collagen and the aggrecan genes. While genetic and environmental factors all come into play with a disease process like disc degeneration, the bulk of research now shows the significantly larger impact of hereditary over exposure. While further research is needed into some of the lesser studied genes linked to IVDD and also the racial variations in genetic makeup, the focus in the near future should be on establishment of genetic testing to identify individuals at greater risk of disease and deliberation regarding the use of gene therapy to prevent disc degeneration.

Melanoma: Prognostic Factors and Factors Predictive of Response to Therapy

2020 ◽  
Vol 27 (17) ◽  
pp. 2792-2813
Author(s):  
Martina Strudel ◽  
Lucia Festino ◽  
Vito Vanella ◽  
Massimiliano Beretta ◽  
Francesco M. Marincola ◽  
...  
Keyword(s):  
Prognostic Factors ◽  
Lactate Dehydrogenase ◽  
Checkpoint Inhibitors ◽  
Survival Rates ◽  
Elevated Serum ◽  
Predictive Biomarkers ◽  
Response To Therapy ◽  
Response To Treatment ◽  
Prognostic Features ◽  
Programmed Death

Background: A better understanding of prognostic factors and biomarkers that predict response to treatment is required in order to further improve survival rates in patients with melanoma. Predictive Biomarkers: The most important histopathological factors prognostic of worse outcomes in melanoma are sentinel lymph node involvement, increased tumor thickness, ulceration and higher mitotic rate. Poorer survival may also be related to several clinical factors, including male gender, older age, axial location of the melanoma, elevated serum levels of lactate dehydrogenase and S100B. Predictive Biomarkers: Several biomarkers have been investigated as being predictive of response to melanoma therapies. For anti-Programmed Death-1(PD-1)/Programmed Death-Ligand 1 (PD-L1) checkpoint inhibitors, PD-L1 tumor expression was initially proposed to have a predictive role in response to anti-PD-1/PD-L1 treatment. However, patients without PD-L1 expression also have a survival benefit with anti-PD-1/PD-L1 therapy, meaning it cannot be used alone to select patients for treatment, in order to affirm that it could be considered a correlative, but not a predictive marker. A range of other factors have shown an association with treatment outcomes and offer potential as predictive biomarkers for immunotherapy, including immune infiltration, chemokine signatures, and tumor mutational load. However, none of these have been clinically validated as a factor for patient selection. For combined targeted therapy (BRAF and MEK inhibition), lactate dehydrogenase level and tumor burden seem to have a role in patient outcomes. Conclusions: With increasing knowledge, the understanding of melanoma stage-specific prognostic features should further improve. Moreover, ongoing trials should provide increasing evidence on the best use of biomarkers to help select the most appropriate patients for tailored treatment with immunotherapies and targeted therapies.

scholarly journals Implementing Personalized Medicine in COVID-19 in Andalusia: An Opportunity to Transform the Healthcare System

2021 ◽  
Vol 11 (6) ◽  
pp. 475
Author(s):  
Joaquín Dopazo ◽  
Douglas Maya-Miles ◽  
Federico García ◽  
Nicola Lorusso ◽  
Miguel Ángel Calleja ◽  
...  
Keyword(s):  
Public Health ◽  
Health Care ◽  
Clinical Practice ◽  
Personalized Medicine ◽  
Local Level ◽  
Individual Variability ◽  
Response To Therapy ◽  
Control Measures ◽  
Response To Treatment ◽  
Specific Patient

The COVID-19 pandemic represents an unprecedented opportunity to exploit the advantages of personalized medicine for the prevention, diagnosis, treatment, surveillance and management of a new challenge in public health. COVID-19 infection is highly variable, ranging from asymptomatic infections to severe, life-threatening manifestations. Personalized medicine can play a key role in elucidating individual susceptibility to the infection as well as inter-individual variability in clinical course, prognosis and response to treatment. Integrating personalized medicine into clinical practice can also transform health care by enabling the design of preventive and therapeutic strategies tailored to individual profiles, improving the detection of outbreaks or defining transmission patterns at an increasingly local level. SARS-CoV2 genome sequencing, together with the assessment of specific patient genetic variants, will support clinical decision-makers and ultimately better ways to fight this disease. Additionally, it would facilitate a better stratification and selection of patients for clinical trials, thus increasing the likelihood of obtaining positive results. Lastly, defining a national strategy to implement in clinical practice all available tools of personalized medicine in COVID-19 could be challenging but linked to a positive transformation of the health care system. In this review, we provide an update of the achievements, promises, and challenges of personalized medicine in the fight against COVID-19 from susceptibility to natural history and response to therapy, as well as from surveillance to control measures and vaccination. We also discuss strategies to facilitate the adoption of this new paradigm for medical and public health measures during and after the pandemic in health care systems.

Role of the norepinephrine transporter polymorphisms in atomoxetine treatment: From response to side effects in children with ADHD

2021 ◽  
pp. 026988112110152
Author(s):  
Melike Kevser Gul ◽  
Elif Funda Sener ◽  
Muge Gulcihan Onal ◽  
Esra Demirci
Keyword(s):  
Side Effects ◽  
Treatment Response ◽  
Large Population ◽  
Norepinephrine Transporter ◽  
Response To Treatment ◽  
Nucleotide Polymorphisms ◽  
Children With Adhd ◽  
Real Time Quantitative Pcr ◽  
Treatment Side Effects ◽  
Adhd Treatment

Objective: Atomoxetine (ATX), one of the most commonly used drugs after stimulants in attention deficit hyperactivity disorder (ADHD) treatment, is an inhibitor of the norepinephrine transporter ( NET/SLC6A2), which is also associated with the etiology of ADHD. In this study, we aimed to investigate the effect of NET gene polymorphisms on response to ATX treatment and to find the answers to the questions about whether there is a relationship between the severity of the disorder and the observed side effects in children with ADHD. Method: About 100 children with ADHD and 80 healthy controls (HCs) were included in this study. The dose of ATX was started at 0.5 mg/kg/day and titrated at 1.2 mg/kg/day. Response to treatment of 78 patients was evaluated 2 months after the beginning of the treatment. After whole blood samples were obtained, DNAs were isolated, and samples were stored at −80°C. Two single-nucleotide polymorphisms (SNPs) (rs12708954 and rs3785143) were analyzed by real-time quantitative PCR (qRT-PCR). Results: The patients with both rs12708954 and rs3785143 heterozygous genotype had better treatment response and more side effects than patients with wild type. There was not found any association between any of the investigated NET polymorphisms and ADHD severity. Conclusion: It was, however, found that the NET rs12708954 and rs3785143 genotypes affect the treatment response to ATX in our study; thus, further studies with a large population are needed to understand the effects of NET polymorphisms on treatment, side effects, and also the severity of ADHD.

Developing a new behavioral framework for dementia care partner resilience (CP-R): A mixed research synthesis

2020 ◽  
Author(s):  
Yuanjin Zhou ◽  
Avery O’Hara ◽  
Emily Ishado ◽  
Soo Borson ◽  
Tatiana Sadak
Keyword(s):  
Help Seeking ◽  
English Language ◽  
Relevant Literature ◽  
Research Synthesis ◽  
Dementia Care ◽  
Domain Identification ◽  
Care Partners ◽  
Learning From Others ◽  
Design And Methods ◽  
The Impact

Abstract Background and Objectives Caring for a person living with dementia requires resilience, the capacity to recover and grow from challenging situations. Despite the increasing interest in assessing and promoting resilience for dementia care partners, behaviors that indicate this attribute are not well known. The goal of this study is to synthesize the literature to identify resilience-related behaviors and develop a new framework for future validation and intervention research. Research Design and Methods We searched English-language peer-reviewed articles (January 1991 – June 2019) reporting qualitative or quantitative descriptions of resilience-related behaviors among dementia care partners. Thematic analysis was used to categorize behaviors into domains, identify the relationships among them, and generate a thematic map. Results Sixteen articles were identified according to predefined inclusion criteria. Four domains emerged: (1) problem-response behaviors (problem-solving, problem-distancing); (2) self-growth behaviors (self-care activities, spiritual-related activities, and developing and maintaining meaningful social relationships); (3) help-related behaviors (help-seeking and help-receiving), and (4) learning-related behaviors (learning from others and reflection). Definitions of each domain, identification of corresponding behaviors, and formulation of Care Partner Resilience (CP-R) behavioral framework were informed by this mixed research synthesis and other relevant literature. Discussion and Implications The CP-R framework emerged as a result of a new focus on identifying and cultivating strengths instead of evaluating strain and burden. It serves as a useful foundation for understanding the impact of specific behaviors on dementia care partner resilience. Once validated, this framework will inform the development of future measures, research, interventions, and policies for dementia care partners.

Molecular Targeting of Platelet-Derived Growth Factor B by Imatinib Mesylate in a Patient With Metastatic Dermatofibrosarcoma Protuberans

2002 ◽  
Vol 20 (17) ◽  
pp. 3586-3591 ◽  
Author(s):  
Brian P. Rubin ◽  
Scott M. Schuetze ◽  
Janet F. Eary ◽  
Thomas H. Norwood ◽  
Sohail Mirza ◽  
...  
Keyword(s):  
Growth Factor ◽  
Tyrosine Kinase ◽  
Imatinib Mesylate ◽  
Kinase Inhibitor ◽  
Dermatofibrosarcoma Protuberans ◽  
Response To Therapy ◽  
Platelet Derived Growth Factor ◽  
Response To Treatment ◽  
Resected Specimen ◽  
Factor B

PURPOSE: Dermatofibrosarcoma protuberans is caused by activation of the platelet-derived growth factor B (PDGFB) receptor, a transmembrane tyrosine kinase. We investigated the response of dermatofibrosarcoma protuberans to the tyrosine kinase inhibitor imatinib mesylate. PATIENTS AND METHODS: A patient with unresectable, metastatic dermatofibrosarcoma protuberans received imatinib mesylate (400 mg bid). Response to therapy was assessed by [18F]fluorodeoxyglucose (FDG) positron emission tomography, magnetic resonance imaging, and histopathologic and immunohistochemical evaluation. RESULTS: The patient was treated for 4 months with imatinib mesylate. The hypermetabolic uptake of FDG fell to background levels within 2 weeks of treatment, and the tumor volume shrank by over 75% during the 4 months of therapy, allowing for resection of the mass. There was no residual viable tumor in the resected specimen, indicating a complete histologic response to treatment with imatinib mesylate. CONCLUSION: Imatinib mesylate is highly active in dermatofibrosarcoma protuberans. The dramatic response seen in this patient demonstrates that inhibition of PDGFB receptor tyrosine kinase activity can significantly impact viability of at least one type of solid tumor.

scholarly journals Therapeutic Value of Single Nucleotide Polymorphisms on the Efficacy of New Therapies in Patients with Multiple Sclerosis

2021 ◽  
Vol 11 (5) ◽  
pp. 335
Author(s):  
María José Zarzuelo Romero ◽  
Cristina Pérez Ramírez ◽  
María Isabel Carrasco Campos ◽  
Almudena Sánchez Martín ◽  
Miguel Ángel Calleja Hernández ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Mechanism Of Action ◽  
Dimethyl Fumarate ◽  
Response To Treatment ◽  
Nucleotide Polymorphisms ◽  
New Therapies ◽  
Therapeutic Value ◽  
The Impact

The introduction of new therapies for the treatment of multiple sclerosis (MS) is a very recent phenomenon and little is known of their mechanism of action. Moreover, the response is subject to interindividual variability and may be affected by genetic factors, such as polymorphisms in the genes implicated in the pathologic environment, pharmacodynamics, and metabolism of the disease or in the mechanism of action of the medications, influencing the effectiveness of these therapies. This review evaluates the impact of pharmacogenetics on the response to treatment with new therapies in patients diagnosed with MS. The results suggest that polymorphisms detected in the GSTP1, ITGA4, NQO1, AKT1, and GP6 genes, for treatment with natalizumab, ZMIZ1, for fingolimod and dimethyl fumarate, ADA, for cladribine, and NOX3, for dimethyl fumarate, may be used in the future as predictive markers of treatment response to new therapies in MS patients. However, there are few existing studies and their samples are small, making it difficult to generalize the role of these genes in treatment with new therapies. Studies with larger sample sizes and longer follow-up are therefore needed to confirm the results of these studies.

What’s so important about CLIL anyway?

2021 ◽  
Author(s):  
Nina Lazarević
Keyword(s):  
Foreign Language ◽  
Content Knowledge ◽  
Science Teachers ◽  
English Language ◽  
Relevant Literature ◽  
Grammar School ◽  
School Teachers ◽  
Teaching Context ◽  
Language Classes ◽  
Or Practice

After doing two 56-hour long seminars in 2018 and 2019 with grammar school teachers in Niš, I realised that there was not much of relevant literature, activity or practice books that science teachers teaching in English could use. While there is some substantial literature for CLIL in English language classes, there is much less support for particular natural science subjects in the local teaching context. Therefore, the material from those workshops is here systematised and organised around several areas that transpired as the most important for teachers. One important point is that this is not a textbook on the English language, or English language practice nor is it an activity book for any specific subject taught in English. The main focus here is on how to activate content knowledge in a subject while using a foreign language, as well as how to organise instruction so that learners benefit from a CLIL class.

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