تالیفات

 

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
 

THE PREVALENCE OF CONVULSION, IT'S RELATION TO ANTI-DNA ANTIBODIES LEVELS AND MORTALITY OF PATIENTS WITH SYSTEMIC LUPUS ERYTHMATOSUS (SLE).

Authers: E. Zeinali, F. Gharibdoost, M. Akbarian, F. Shahram, A. Nadji, A.R. Jamshidi, F. Davatchi.

Abstract: Neuropsychiatric manifestations of SLE are frequent and usually serious, convulsion is one of the most important and hazardous symptoms of CNS-LUPUS. Because there are many differences in clinical manifestations frequency and severity of organ systems involvement, and cause of death in patients with SLE (in Iran and other countries) an analytic retrospective case-control study was carried out to evaluate the frequency of convulsion in relation with age and sex distribution, ... سال انتشار: 1995