تالیفات

 

Pro-inflammatory cytokine single nucleotide polymorphisms in Kawasaki disease

مولف: Raheleh ASSARI, 1, 2 Yahya AGHIGHI, 3 Vahid ZIAEE, 1, 2 Maryam SADR, 4 Farzaneh RAHMANI, 5 Arezou REZAEI, 5 Zeinab SADR, 4 Mohammad Hassan MORADINEJAD, 2 Seyed Reza RAEESKARAMI6 and Nima REZAEI

خلاصه: Aim: Kawasaki disease (KD) is a systemic vasculitis of children associated with cardiovascular sequelae. Proinflammatory cytokines play a major role in KD pathogenesis. However, their role is both influenced and modified by regulatory T-cells. IL-1 gene cluster, IL-6 and TNF-a polymorphisms have shown significant associations with some vasculitides. Herein we investigated their role in KD. Methods: Fifty-five patients with KD who were randomly selected from referrals to the main pediatric hospital were enrolled in this ... سال انتشار: 2017
 

Hyaline Fibromatosis Syndrome: A Novel Mutation and Recurrent Founder Mutation in the CMG2/ ANTXR2 Gene

مولف: Leila Youssefian1, 2#, Hassan Vahidnezhad1, 3#, Yahya Aghighi4#, Vahid Ziaee4, 5#, Sirous Zeinali3, 6, Maryam Abiri2, 3 and Jouni Uitto1

خلاصه: Hyaline Fibromatosis Syndrome (HFS) is a rare autosomal recessive disorder affecting primarily skin and mucous membranes. Skin appears thickened with subcutaneous nodules, associated with swollen joint contractures, red hyperpigmentation and gingival hyperplasia. Additional findings include osteopenia and osteoporosis, and the affected children are susceptible to infections and protein losing enteropathy (1). Histopathology of skin lesions shows proliferation of spindle-shaped cells, embedded in a homogeneous hyaline-like material, and biochemical alterations in type I and VI collagens as well as in glycosaminoglycans have ... سال انتشار: 2017
 

Hyaline Fibromatosis Syndrome: A Novel Mutation and Recurrent Founder Mutation in the CMG2/ ANTXR2 Gene

Authers: Leila Youssefian1, 2#, Hassan Vahidnezhad1, 3#, Yahya Aghighi4#, Vahid Ziaee4, 5#, Sirous Zeinali3, 6, Maryam Abiri2, 3 and Jouni Uitto1

Abstract: Hyaline Fibromatosis Syndrome (HFS) is a rare autosomal recessive disorder affecting primarily skin and mucous membranes. Skin appears thickened with subcutaneous nodules, associated with swollen joint contractures, red hyperpigmentation and gingival hyperplasia. Additional findings include osteopenia and osteoporosis, and the affected children are susceptible to infections and protein losing enteropathy (1). Histopathology of skin lesions shows proliferation of spindle-shaped cells, embedded in a homogeneous hyaline-like material, and biochemical alterations in type I and VI collagens as well as in glycosaminoglycans have ... سال انتشار: 2016
 

Spectrum of Mutations of Familial Mediterranean Fever Gene in Iranian Population

Authers: Tayebeh Sabokbar1, 2, Ali Malayeri2, Cyrus Azimi2, Seyyed Reza Raeeskarami3, 4, Vahid Ziaee3, 4, Yahya Aghighi3, 4, Abbas Shakoori2, 5

Abstract: Familial Mediterranean fever is a genetic disease that is caused by the MEFV gene. Our study was based on clinical manifestations of recurrent attacks of fever and inflammation and distribution of MEFV mutations in an Iranian patient using a comprehensive mutation detection method. Methods: Eighty-five clinically diagnosed FMF patients from university hospitals who were referred to the Department of Genetics for molecular diagnosis of FMF. Results: Mutations in one allele and in both ... سال انتشار: 2014