Primary immune thrombocytopenia (ITP) is a common condition characterized by a low peripheral platelet count (100000/L) caused by cell-mediated and humoral-mediated destruction of the platelet. Immunological tolerance to platelet antigens is lost in these patients. The main step in the pathogenesis includes the overactivation of T-cells, particularly T-helper cells, the release of various cytokines, and the interaction of autoantibodies with platelet surface antigens, which results in platelet destruction by the immune system in the spleen. The most common PLT antigens against which autoantibodies are directed are CD41 and CD61. These antigens are occupied by autoantibodies so there is decreased detection of these antigens on the surface of platelets. PD1 is an important negative stimulatory molecule of the immune system a member of the CD28/B7 family. ITP patients have considerably increased levels of PD-1 on CD4+Tcells in their peripheral blood than healthy people., indicating that the PD1 molecule plays an important role in illness etiology.
β-thalassemia is one of the most frequent autosomal recessive diseases that has a high recurrence in people of the Mediterranean zone, the Middle East, India, the Far East, Tropical Africa, and the Caribbean. Parents who are both carriers for β-thalassemia have a 25% danger to give a child with β-thalassemia major, a disorder that requires a longlasting blood transfusion and costly iron-chelation treatment. The most accessible strategies for pre-birth diagnosis are chorionic villus sampling (CVS) somewhere in the range of 11 and 14 weeks and amniocentesis following 15 weeks and both are invasive procedures and cause dangers to the fetus and mother, having a danger of abortion 1 in 100-200 and 1 in 200-400, respectively. The accuracy of these methods is estimated to be 98-99%. Cell-free fetal DNA (cff-DNA) can be found in maternal plasma following 18 days from fertilized egg implantation in Pregnancies after lab conception and resembles extracellular DNA. The discovery of cff-DNA in maternal plasma has led to the evolution of noninvasive prenatal diagnosis. Some genomic loci of cff-DNA show methylated sequences unique in relation to circling maternal DNA, this trademark can be utilized to evaluate and demonstrate the presence of fetal DNA during pregnancy, independent of the sex of the embryo. the two major limitations for non-invasive prenatal diagnosis (NIPND) are the small amount of cff-DNA in maternal blood and its coexistence with maternal free DNA.we study investigations used in the detection of inherited mutation of β-thalassemia in maternal plasma during pregnancy using cell-free fetal DNA and evaluate the diagnostic test performance of cff-DNA for this issue.157
Background programmed death (PD-1) has an important role in inhibiting the immune system in immune thrombocytopenic purpura (ITP) by switching off auto-reactive T-cells. This work aims to assess the expression of (PD)-1 negative co-stimulatory molecule in patients with ITP and to detect its relation with platelet count. Patient and methods, forty patients were newly diagnosed as ITP 13 males and 27 females were included, their age ranged from 1 to 43 years and twenty-six healthy subjects 8 males and 18 females as control group their age ranged from 5 to 62 year. Expression of PD-1+ CD4+ T-cells by B.D FACS Calibur flow cytometry was performed in ITP patients and healthy subjects on peripheral blood samples, Mo Abs supplied by BD Bioscience, United States.
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