Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002895 (sickle cell disease)
 11,747 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hydroxyurea, an antineoplastic drug evaluated clinically more than 30 years ago, is still the principal drug in patients with myeloproliferative syndromes. It is suggested now that it should be used as initial therapy for chronic myelogenous leukemia. Recently hydroxyurea is used in the treatment of patients with sickle cell disease. It has been shown to augment production of fetal hemoglobin and decrease the propensity of abnormal hemoglobin to polymerize and from the sickle cells in this way.
Acta Haematol Pol 1995
PMID:[Clinical pharmacology of hydroxyurea]. 774 61

Sudden cardiac death due to ventricular arrhythmias remains a significant problem. In most studies about 50% of all death related to coronary artery disease and heart failure are sudden and unexpected and are caused by acute fatal ventricular tachycardia and fibrillation. Most of the patients suffering sudden cardiac death have some kind of structural heart disease but 80% of SCD events are associated with coronary artery disease, 10-15% with dilated and hypertrophic cardiomyopathy, and only small fraction with the less common disorders as valvular heart disease, ventricular dysplasia and cardiac involvement in sarcoidosis or amyloidosis. In some patients the anomaly responsible for sudden cardiac death is not structural but mainly electrical as in patients with the long QT syndrome, WPW syndrome or in patients with a proarrhythmic effect from antiarrhythmic drugs. In this review, data from clinical trials and other studies on on antiarrhythmic therapies have been evaluated in order to determine effective strategies for the prevention sudden cardiac death in high risk patients. Taken together with the mortality data routine prophylactic use of class I antiarrhythmic drugs in the patients survivors of acute myocardial infarction and patients with heart failure is associated with increased risk of death. Conversely beta-blockers are associated with significant reduction in nonfatal cardiac arrest in the short term trials and sudden cardiac death in long term trials. These benefits are likely due to relief ischemia, reduction of heart rate and maintenance favourable autonomic nervous system balance. Overall trial data on amiodarone suggests that this agent is effective in reducing the risk of death in survivors of cardiac arrest, post infarction patients, and patients with heart failure but the routine prophylactic use of amiodarone remains of uncertain efficacy. The physician who considers the use of antiarrhythmic medications in patients with ventricular arrhythmias must be aware of which arrhythmias are malignant or potentially malignant and which are benign and the decision to initiate antiarrhythmic therapy should be based on consideration of the patients absolute mortality risk.
Pol Merkur Lekarski 1999 Mar
PMID:[Antiarrhythmic agents in the prevention of sudden cardiac death]. 1036 92

We describe a case of a 25-year-old woman suffering from recurrent adrenergic polymorphic ventricular tachycardia (PVT). As a 14-year-old the patient suffered from recurrent episodes of syncope during exercise or emotion. On Holter monitoring unsustained runs of PVT were observed. The patient survived SCD (VF) which occurred near the hospital. An ICD was implanted and during the first year over 150 adequate discharges were present. During 9 year follow-up the patient had to have 4 ICDs replaced. She suffered from post-traumatic stress disorder syndrome due to frequent ICD shocks. After age of 23 she was admitted to our hospital and an ablation using the CARTO system was performed. No low voltage areas were observed. During the study ventricular premature beats and VT/PVT runs were observed originating from the Purkinje fibres. RF applications were delivered at those sites, during which abrupt PVT runs were present. After the ablation no ventricular arrhythmia was registered in the ICD memory during 2-year follow-up.
Kardiol Pol 2007 Mar
PMID:[Ablation of a catecholaminergic polymorphic VT and VF originating from Purkinje fibers--a case report]. 1743 65

During human development, the switch from foetal gamma- to adult beta-globin on chromosome 11p is not complete resulting in the residual gamma-globin expression in a modest subpopulation of erythrocytes termed "F-cells". Genetic determinants that are responsible for higher level of Hb F include various mutations within the beta-globin gene cluster as well as singular nucleotide polymorphisms in other loci associated with Hb F quantitative trait, and also epigenetic mechanisms. All these molecular conditions may drive to hereditary persistence of foetal haemoglobin (HPFH). Taking into account a morphologic criterion, HPFH is called pancellular (p-) HPFH, if the increased Hb F is distributed in a uniform fashion among all of the red cells. When the Hb F distribution is restricted, the syndrome is referred to as heterocellular (h-) HPFH. The Hb F persistence rarely occurs in healthy adults or accompanies certain hemoglobinopathies changing substantially phenotypic diversity of sickle cell disease and beta-thalassaemia.
Pol Merkur Lekarski 2011 Jan
PMID:[Genetically based states of elevated quantity of foetal haemoglobin (Hb F) in healthy individuals and patients]. 2154 48

The pro-inflammatory context of sickle cell disease promotes the liberation of cytokines such as CCL5, encoded by a gene located on chromosome 17. Herein, the occurrence of three variations of CCL5 in sickle cell anemia (SCA) and their relations to two major complications - painful crisis and presence of infections - were investigated. 100 SCA Tunisian patients and 100 healthy subjects were included in the case control study. Then the sample of patients was divided into two groups according to the presence or absence of each complication. The polymorphisms, namely g.-403G>A, g.-28C>G and g.In1.+1T>C, were analyzed by PCR/sequencing. Our findings show the presence of eight genotypes, namely GG, GA and AA of g.-403G>A, CC, CG and GG of g.-28C>G, and TT and TC of g.In1.+1T>C. The frequencies of studied single nucleotide polymorphisms (SNPs) and haplotypes in SCA patients do not differ significantly from healthy control group results. There is also no significant association between the analyzed polymorphisms and complications as for painful crisis and presence of infections (p > 0.05). Altogether, our data support the conclusion that the three polymorphisms of CCL5, namely g.-403G>A, g.-28C>G and g.In1.+1T>C, do not seem to be involved in the clinical variability of SCA in Tunisia.
Pol J Pathol 2013 Jun
PMID:Frequency of three polymorphisms of the CCL5 gene (rs2107538, rs2280788 and rs2280789) and their implications for the phenotypic expression of sickle cell anemia in Tunisia. 2390 Aug 64