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  • خلاصه مقاله:

    Background. Cardiac involvement is the major cause of morbidity and death in (β)-
    thalassemia Major. We aimed to compare echocardiography findings in early diagnosis
    of cardiac involvement.
    Methods: 46 Beta (β)-thalassemia Major patients aged less than 10-year and 46 beta
    thalassemia patients aged over 10-year were studied. Echocardiography and Doppler
    tissue imaging (DTI) were done.
    Results: The mean of RV pre-ejection period to ejection time (PEP/ET), LV PEP/ET,
    mitral and tricuspid peak E:A velocities ratio (E/A), RV myocardial performance index
    (MPI) and LV MPI in group A and B did not show any significant differences. The
    mean of tricuspid deceleration time (DT), mitral DT and from DTI the tricuspid and
    mitral annular velocities in group A and B demonstrated significant differences.
    Conclusions: This study showed abnormal diastolic dysfunction in asymptomatic children
    with Beta (β)-thalassemia Major that could be a useful biomarker to predict later
    and severe manifestations of cardiac disease

    نویسندگان: NoorMohammad Noori, Azim Nejatizadeh ,Shahrokh Rajaei,Maziar Mahjoubifard
    کلید واژه ها: beta-talassemia major,systolic and diastolic dysfunction,echocar-diography
  • Summary:

    Abstract
    The genes of the renin–angiotensin system (RAS) play an important role in the regulation of pulmonary vascular tone.
    Although studies on individual genes polymorphisms have reported association with high-altitude pulmonary oedema
    (HAPE), studies on multiple genes or epistasis are lacking. We therefore investigated the association of the RAS
    polymorphisms with HAPE. In a case-control design, we screened 163 HAPE-resistant/controls (HAPE-r) and 160 HAPEpatients
    (HAPE-p) of Indian origin for eight polymorphisms of four RAS genes, ACE, AGT, AGTR1 and AGTR2. Significant
    difference in genotype and allele frequencies of the ACE I/D and AGT M235T polymorphisms was observed between
    HAPE-p and HAPE-r (p < 0.05). In three-locus haplotype analysis of AGT the haplotype GTM was significantly higher
    in HAPE-p (29%) and haplotype GTT in HAPE-r (27%) after Bonferroni correction (p < 0.006). The differences were
    insignificant for polymorphisms from AGTR1 and AGTR2. The MDR (multifactor dimensional reduction) approach for
    gene–gene interaction depicted individual polymorphism M235T as the best disease predicting model (cross validation
    consistency, CVC = 10/10). We found a significant association of D allele of ACE and M allele of AGT with HAPE. The
    findings are supported at the haplotypic level as well as through nested genetic interaction between the RAS gene
    polymorphisms using the MDR approach.

    Authors: Tsering Stobdan,MA Qader Pasha,,Zahara Ali,Amjad Pervez Khan, Azim Nejatizadeh,Rekhbala Ram,Tashi Thinlas,Ghulam Mohmmad,Tsering
    Keywords: High-altitude pulmonary oedema, multifactor dimensional reduction, renin–angiotensin system, single nucleotide polymorphisms
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