scholarly journals Evaluating the Role of Genetic Variants on first-line antiepileptic drug response in North India: Significance ofSCN1AandGABRA1Gene Variants in Phenytoin Monotherapy and its Serum Drug Levels

2016 ◽  
Vol 22 (9) ◽  
pp. 740-757 ◽  
Author(s):  
Ruchi Baghel ◽  
Sandeep Grover ◽  
Harpreet Kaur ◽  
Ajay Jajodia ◽  
Chitra Rawat ◽  
...  
Keyword(s):  
Antiepileptic Drug ◽  
Genetic Variants ◽  
Drug Response ◽  
North India ◽  
First Line ◽  
Drug Levels

Status Epilepticus in Children With Epilepsy: The Role of Antiepileptic Drug Levels in Prevention

PEDIATRICS ◽  
1996 ◽  
Vol 98 (6) ◽  
pp. 1119-1121
Author(s):  
Joseph Maytal ◽  
Gerald Novak ◽  
Catherine Ascher ◽  
Robert Bienkowski
Keyword(s):  
Status Epilepticus ◽  
Antiepileptic Drug ◽  
Medical Records ◽  
Clinic Visit ◽  
Drug Levels ◽  
Progressive Encephalopathy ◽  
History Of ◽  
The Mean ◽  
Subtherapeutic Level

Objectives. To determine the association between subtherapeutic antiepileptic drug (AED) levels or AED withdrawal and status epilepticus (SE) in children with epilepsy. Methods. We studied the AED levels at the time of SE in 51 consecutive children with epilepsy. Information about prior AED levels, possible etiology of seizures, and acute precipitants was extracted from medical records. Results. The mean age at the time of SE was 5.7 years (range, 3 months through 18 years). Forty-three patients had history of remote insult, five had history of progressive encephalopathy, and three patients were classified as idiopathic. At the time of SE all AED levels were therapeutic in 34 (66%) patients and at least one level was therapeutic in 42 (82%) patients. All levels were subtherapeutic in 9 (18%) patients. Four patients had their AED reduced or discontinued less than 1 week before SE. Twelve patients with therapeutic AED levels on their most recent clinic visit had at least one subtherapeutic level at the time of SE. Eight (16%) patients were febrile and one was hyponatremic. Of the 51 patients, 31 (61%) had no obvious explanation for the development of SE, as all known AEDs were therapeutic and there were no known acute insults. Conclusions. Neurologically abnormal children with preexisting epilepsy are at high risk for development of SE despite having therapeutic AED levels at that time. Acute precipitants of SE, such as fever or AED withdrawal, may play a role in inducing SE only in a minority of patients.

scholarly journals The role of pharmacogenetics in keloid scar treatment: A literature review

2020 ◽  
Vol 6 ◽  
pp. 205951312094170
Author(s):  
Tamara Searle ◽  
Faisal R Ali ◽  
Firas Al-Niaimi
Keyword(s):  
Genetic Variants ◽  
Drug Response ◽  
Current Knowledge ◽  
Personalised Medicine ◽  
Genetic Variations ◽  
Level Of Evidence ◽  
New Era ◽  
Keloid Scars ◽  
Varied Response

Background: The pathophysiology of keloid scars is still not fully understood and a universally reliable effective treatment has not been identified. Pharmacogenetics explores how drug response to a particular therapy can relate to genetic variations. Purpose: To investigate how pharmacogenetics could be applied to keloid scars and the relevance of this to clinical practice. Methods: We reviewed the literature and discuss our current knowledge of pharmacogenomics in the treatment of keloid scars. A literature search was performed using the terms ‘Pharmacogenetics’, ‘Pharmacogenomics’, ‘Keloid’ and ‘Scar’. We searched the PubMed, MEDLINE and EMBASE databases to find the relevant articles. Only articles in English were chosen. The level of evidence was evaluated and selected accordingly listing the studies with the highest level of evidence first. Results: Treatments including corticosteroid injections and 5-fluorouracil can be effective in some patients, but less so in others. Polymorphisms of the glucocorticoid receptor and variants of CCL2, YAP1, miR-21-5p and NF-κβ might be responsible for different responses to treatments used in keloid scars such as 5-fluorouracil. Small molecule inhibitors might be utilised to target other implicated genes. Conclusion: Pharmacogenetics aims to produce the most efficacious patient outcomes while reducing adverse effects. Understanding the pharmacogenetics of keloid scars could lead to a new era of personalised medicine in the treatment of keloid scars. At present, there is some evidence (level 3b/4) to suggest genetic variations that are responsible to drug response in keloids, but further research in this field is required. Lay summary The varied response to similar therapeutic treatments in keloids has prompted the consideration of the role of genetic variants on response in the form of pharmacogenetics. Pharmacogenetics refers to drugs and their metabolism and action based on genetic influences. The ideal scenario would involve the selection of treatment based on the individual’s specific genetic variants to ensure maximum efficacy with minimal toxicity. Some evidence currently points to genetic variations in some keloid patients that might be of relevance to the treating clinician.

scholarly journals The role of genetics and genomics in clinical psychiatry

2018 ◽  
Vol 20 (3) ◽  
pp. 169-177 ◽  
Keyword(s):  
Genetic Variants ◽  
Drug Targets ◽  
Drug Response ◽  
Disease Risk ◽  
Individual Response ◽  
Sources Of Information ◽  
Metabolizing Enzymes ◽  
Genes Encoding ◽  
Genetics And Genomics

The enormous successes in the genetics and genomics of many diseases have provided the basis for the advancement of precision medicine. Thus, the detection of genetic variants associated with neuropsychiatric disorders, as well as treatment outcome, has raised growing expectations that these findings could soon be translated into the clinic to improve diagnosis, the prediction of disease risk and individual response to drug therapy. In this article, we will provide an introduction to the search for genes involved in psychiatric illness and summarize the present findings in major psychiatric disorders. We will review the genetic variants in genes encoding drug metabolizing enzymes and specific drug targets which were found to be associated with variable drug response and severe side effects. We will evaluate the clinical translatability of these findings, whether there is currently any role for genetic testing and in this context, make valuable sources of information available to the clinician seeking guidance and advice in this rapidly developing field of psychiatric genetics.

Social Representations and Commitment

2018 ◽  
Vol 23 (3) ◽  
pp. 233-249 ◽  
Author(s):  
Eric Bonetto ◽  
Fabien Girandola ◽  
Grégory Lo Monaco
Keyword(s):  
Social Representations ◽  
Social Representation ◽  
Second Line ◽  
Review Of The Literature ◽  
First Line ◽  
Research Perspectives ◽  
The Social ◽  
Bibliographic Search ◽  
English Articles

Abstract. This contribution consists of a critical review of the literature about the articulation of two traditionally separated theoretical fields: social representations and commitment. Besides consulting various works and communications, a bibliographic search was carried out (between February and December, 2016) on various databases using the keywords “commitment” and “social representation,” in the singular and in the plural, in French and in English. Articles published in English or in French, that explicitly made reference to both terms, were included. The relations between commitment and social representations are approached according to two approaches or complementary lines. The first line follows the role of commitment in the representational dynamics: how can commitment transform the representations? This articulation gathers most of the work on the topic. The second line envisages the social representations as determinants of commitment procedures: how can these representations influence the effects of commitment procedures? This literature review will identify unexploited tracks, as well as research perspectives for both areas of research.

A REVIEW ON THE ROLE OF TYROSINE KINASE INHIBITORS AVAILABLE FOR THE MANAGEMENT OF CHRONIC MYELOID LEUKEMIA

2020 ◽  
Vol 7 (2) ◽  
pp. 205-211
Author(s):  
Kaynat Fatima ◽  
Syed Tasleem Raza ◽  
Ale Eba ◽  
Sanchita Srivastava ◽  
Farzana Mahdi
Keyword(s):  
Chronic Myeloid Leukemia ◽  
Tyrosine Kinase ◽  
Protein Kinases ◽  
Tyrosine Kinase Inhibitors ◽  
Myeloid Leukemia ◽  
Kinase Inhibitors ◽  
Line Treatment ◽  
First Line ◽  
First Line Treatment

The function of protein kinases is to transfer a γ-phosphate group from ATP to serine, threonine, or tyrosine residues. Many of these kinases are linked to the initiation and development of human cancer. The recent development of small molecule kinase inhibitors for the treatment of different types of cancer in clinical therapy has proven successful. Significantly, after the G-protein-coupled receptors, protein kinases are the second most active category of drug targets. Imatinib mesylate was the first tyrosine kinase inhibitor (TKI), approved for chronic myeloid leukemia (CML) treatment. Imatinib induces appropriate responses in ~60% of patients; with ~20% discontinuing therapy due to sensitivity, and ~20% developing drug resistance. The introduction of newer TKIs such as, nilotinib, dasatinib, bosutinib, and ponatinib has provided patients with multiple options. Such agents are more active, have specific profiles of side effects and are more likely to reach the necessary milestones. First-line treatment decisions must be focused on CML risk, patient preferences and comorbidities. Given the excellent result, half of the patients eventually fail to seek first-line treatment (due to discomfort or resistance), with many of them needing a third or even further therapy lines. In the present review, we will address the role of tyrosine kinase inhibitors in therapy for chronic myeloid leukemia.

The Renal Outer Medullary Potassium Channel (ROMK): An Intriguing Pharmacological Target for an Innovative Class of Diuretic Drugs

2018 ◽  
Vol 25 (23) ◽  
pp. 2627-2636 ◽  
Author(s):  
Vincenzo Calderone ◽  
Alma Martelli ◽  
Eugenia Piragine ◽  
Valentina Citi ◽  
Lara Testai ◽  
...  
Keyword(s):  
Physiological Role ◽  
Clinical Use ◽  
Diuretic Activity ◽  
First Line ◽  
Potassium Homeostasis ◽  
Diuretic Drugs ◽  
Pharmacological Target ◽  
Diuretic Agents ◽  
Effective Drugs

In the last four decades, the several classes of diuretics, currently available for clinical use, have been the first line option for the therapy of widespread cardiovascular and non-cardiovascular diseases. Diuretic drugs generally exhibit an overall favourable risk/benefit balance. However, they are not devoid of side effects. In particular, all the classes of diuretics cause alteration of potassium homeostasis. <p> In recent years, understanding of the physiological role of the renal outer medullary potassium (ROMK) channels, has shown an intriguing pharmacological target for developing an innovative class of diuretic agents: the ROMK inhibitors. This novel class is expected to promote diuretic activity comparable to (or even higher than) that provided by the most effective drugs used in clinics (such as furosemide), with limited effects on potassium homeostasis. <p> In this review, the physio-pharmacological roles of ROMK channels in the renal function are reported, along with the most representative molecules which have been currently developed as ROMK inhibitors.

Role of Pharmacogenomics in Antiepileptic Drug Therapy: Current Status and Future Perspectives

2018 ◽  
Vol 23 (37) ◽  
pp. 5760-5765 ◽  
Author(s):  
Antonio Gambardella ◽  
Angelo Labate ◽  
Laura Mumoli ◽  
Iscia Lopes-Cendes ◽  
Fernando Cendes
Keyword(s):  
Drug Therapy ◽  
Antiepileptic Drug ◽  
Current Status ◽  
Future Perspectives ◽  
Antiepileptic Drug Therapy

How Lives Change

2018 ◽  
Author(s):  
Himanshu ◽  
Peter Lanjouw ◽  
Nicholas Stern
Keyword(s):  
Green Revolution ◽  
Critical Role ◽  
Uttar Pradesh ◽  
North India ◽  
Land Reforms ◽  
Key Drivers ◽  
Growth And Change ◽  
Development Outcomes ◽  
The Village

Development economics is about understanding how and why lives and livelihoods change. This book is about economic development in the village of Palanpur, in Moradabad district, Uttar Pradesh, in north India. It draws on seven decades of detailed data collection by a team of dedicated development economists to describe the evolution of Palanpur’s economy, its society, and its politics. The emerging story of integration of the village economy with the outside world is placed against the backdrop of a rapidly transforming India and, in turn, helps to understand the transformation. The role of, and scope for, public policy in shaping the lives of individuals is examined. The book describes how changes in Palanpur’s economy since the late 1950s were initially driven by the advance of agriculture through land reforms, the expansion of irrigation, and the introduction of ‘green revolution’ technologies. Then, since the mid-1980s, newly emerging off-farm opportunities in nearby towns and outside agriculture became the key drivers of growth and change. These key forces of change have profoundly influenced poverty, income mobility, and inequality in Palanpur. Village institutions such as those governing access to land are shown to have evolved in subtle but clear ways over time, while individual entrepreneurship and initiative is found to play a critical role in driving and responding to the forces of change. And yet, against a backdrop of real economic growth and structural transformation, the book documents how human development outcomes have shown only weak progress and remain stubbornly resistant to change.

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