International Journal of Endocrinology Research and Reviews(IJERR)
ISSN: 2993-656X | DOI: 10.33140/IJERR
Aamir Jalal Al-Mosawi
Advisor and expert trainer, The National Training and Development Center Iraqi Ministry of Health, B, Iran
Publications
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Research Article
Sheppard Siegal Syndrome (Familial Mediterranean Fever) With Homozygous M694v Gene Mutation and Saa1 Amyloidosis Gene Genotype 1.1/1.5: Documenting the Occurrence in An Iraqi Girl, And an Evidence-Based Therapeutic Recommendation
Author(s): Aamir Jalal Al-Mosawi
Background: Sheppard Siegal syndrome was first described in 1945 by Sheppard Siegal who described in details an extraordinary syndrome that was often undiagnosed because it was not clearly understood. Siegal suggested that the syndrome are constant is characterized by recurrent paroxysms of severe abdominal pain with fever which can high. Four mutations in the MEFV gene have been reported to account for 86% of the mutations causing Sheppard Siegal syndrome. Nothing is known is known about the genetic mutations causing Sheppard Siegal syndrome in Iraqi children. Patients and methods: An Iraqi girl from Al-Anbar province with Sheppard Siegal syndrome was studied, and the relevant literatures were reviewed with the aim of suggesting an evidence-based therapeutic recommendation. Results: An 11-year old Iraqi girl was having .. Read More»