مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

video

مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

sound

مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

Persian Version

مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

View:

306
مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

Download:

124
مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

Cites:

Information Journal Paper

Title

ALPHA 1 ANTITRYPSIN DEFICIENCY IN INFANTS WITH NEONATAL CHOLESTASIS

Pages

  501-507

Abstract

 Objective: ALPHA1-ANTITRYPSIN DEFICIENCY (A1ATD) is the most important indication for LIVER transplantation in children. The gene frequencies vary in different ethnic groups. In the present study, we attempt to determine the frequencies of the most common defective alleles, Z and S, in IRANian children suffering from idiopathic neonatal CHOLESTASIS. Eighty-seven infants were typed for Z and S alleles.Methods: In a single center study, 87 consecutive LIVER biopsies from infants with CHOLESTASIS were reviewed and patients with neonatal CHOLESTASIS enrolled in the study and cases with confirmed biliary tract atresia excluded. Formalin fixed paraffin embedded blocks were used for DNA extraction. AAT genotype was determined by polymerase chain reaction (PCR) assay and amplification of the two most common deficiency variants, S and Z alleles, and then sequencing of PCR products.Findings: There were 48 (55.2%) males and 39 (44.8%) females, with a median age of 60 days. Out of 87 of the study subject, 2 (2.2%) were heterozygous for the S allele, and no ZZ, SS or MZ individual was found in the patients. No other polymorphism was found in the sequencing results.Conclusion: In comparison to other populations, AAT deficiency seems not to be an important etiologic factor for neonatal cholestatic LIVER disease in IRAN; however, further studies are recommended to estimate the true mutant gene frequencies.

Cites

  • No record.

    • References

  • No record.

    • Cite

    APA: Copy

    MONAJEMZADEH, MARYAM, SHAHSIAH, REZA, VASEI, MOHAMMAD, TANZIFI, PARIN, REZAEI, NIMA, NAJAFI, MEHRI, SOLEIMANIFAR, NARJES, & EGHBALI, MARYAM. (2013). ALPHA 1 ANTITRYPSIN DEFICIENCY IN INFANTS WITH NEONATAL CHOLESTASIS. IRANIAN JOURNAL OF PEDIATRICS, 23(5), 501-507. SID. https://sid.ir/paper/658396/en

    Vancouver: Copy

    MONAJEMZADEH MARYAM, SHAHSIAH REZA, VASEI MOHAMMAD, TANZIFI PARIN, REZAEI NIMA, NAJAFI MEHRI, SOLEIMANIFAR NARJES, EGHBALI MARYAM. ALPHA 1 ANTITRYPSIN DEFICIENCY IN INFANTS WITH NEONATAL CHOLESTASIS. IRANIAN JOURNAL OF PEDIATRICS[Internet]. 2013;23(5):501-507. Available from: https://sid.ir/paper/658396/en

    IEEE: Copy

    MARYAM MONAJEMZADEH, REZA SHAHSIAH, MOHAMMAD VASEI, PARIN TANZIFI, NIMA REZAEI, MEHRI NAJAFI, NARJES SOLEIMANIFAR, and MARYAM EGHBALI, “ALPHA 1 ANTITRYPSIN DEFICIENCY IN INFANTS WITH NEONATAL CHOLESTASIS,” IRANIAN JOURNAL OF PEDIATRICS, vol. 23, no. 5, pp. 501–507, 2013, [Online]. Available: https://sid.ir/paper/658396/en

    Related Journal Papers

  • No record.

    • Related Seminar Papers

  • No record.

    • Related Plans

  • No record.

    • Recommended Workshops






    Move to top
    telegram sharing button
    whatsapp sharing button
    linkedin sharing button
    twitter sharing button
    email sharing button
    email sharing button
    email sharing button
    sharethis sharing button