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العنوان
Tumor necrosis factor-alpha-308 (g/a) gene polymorphism in a sample of egyptian adults with immune thrombocytopenic purpura/
المؤلف
El-Zokm, Asmaa Ahmed Abd El-Aziz.
هيئة الاعداد
باحث / أسماء أحمد عبد العزيز الزقم
مناقش / مجدي ممدوح البرديني
مناقش / أماني فؤاد سرور
مشرف / أماني فؤاد سرور
الموضوع
Clinical Pathology. Chemical Pathology.
تاريخ النشر
2020.
عدد الصفحات
106 p. :
اللغة
الإنجليزية
الدرجة
ماجستير
التخصص
الطب (متفرقات)
تاريخ الإجازة
16/5/2020
مكان الإجازة
جامعة الاسكندريه - كلية الطب - Clinical and Chemical Pathology
الفهرس
Only 14 pages are availabe for public view

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Abstract

Immune thrombocytopenic purpura is an autoimmune disease whose pathogenesis involves different cytokines, antigen-presenting cells, T-lymphocytes and autoreactive B-lymphocytes that produce antiplatelet autoantibodies.
Tumor necrosis factor alpha is one of the cytokines that play an essential role in ITP. It belongs to the TNF superfamily and its production is mainly by activated macrophages, CD4+ lymphocytes, NK cells, mast cells, and neurons.
Dysregulation of TNF-α production has been implicated in different diseases including neurologic disorders, cardiovascular diseases, pulmonary diseases, cancer, and different autoimmune diseases such as immune thrombocytopenic purpura.
Regarding ITP, TNF-α increase may be explained by the different single nucleotide polymorphisms (SNPs) in TNF-α gene promoter. Many studies discussed several SNPs of TNF-α gene that are reported to be associated with ITP.
One of these SNPs is TNF-α-308 (G/A) polymorphism. At nucleotide position 308, there are two allelic forms: TNF-G allele which has guanine, , and TNF-A allele which has adenosine instead of guanine.
Several studies have different results about the association between TNF-α-308 (G/A) polymorphism and ITP. Some of them reported that it is associated with ITP susceptibility in addition to its association with ITP prognosis and response to therapy.
The aim of the current study was to determine the frequency of TNF-α-308 (G/A) polymorphism in a sample of adult patients with primary ITP disease and its effect on ITP prognosis and response to corticosteroid treatment.
This study was carried out on 50 randomly selected adult patients diagnosed as primary ITP. They included 13 males (26%) and 37 females (74%) with a female to male ratio of 2.8:1. Their ages ranged from 18 to 70 years with a mean of (35.34 ± 13.4years).
For normal control, 40 hematologically normal individuals of matched age and sex were included in the study to assess the occurrence of TNF-α-308 (G/A) polymorphism in normal subjects.
All patients included in our study were subjected to full history taking, thorough clinical examination and investigations. These investigations included complete blood count, liver function tests, renal function tests, some virology and immunology markers, abdominal ultrasonography, bone marrow aspirate examination if needed, and TNF-α-308(G/A) polymorphism detection by ARMS-PCR (amplification refractory mutation system-polymerase chain reaction). Detection of this polymorphism by PCR was assessed both in patients and controls.
The peak age incidence of all patients participating in the study was in the third decade of life and ITP incidence was higher among females than males.
The main presenting symptom of patients was mucocutaneous bleeding (72%) followed by genital bleeding (16%) and accidental discovery of the thrombocytopenia (12%). Bleeding score as a tool of bleeding severity assessment was significantly associated with severe thrombocytopenia (platelet count less than 30 x 109 /L).