Background: Recurrent hydatidiform moles (RHMs) are an unusual pregnancy with at least two molar gestations that are associated with abnormal proliferation of trophoblastic tissue and a failure in the embryonic tissues development. Three maternal-effect genes, including NLRP7, KHDC3L, and PADI6 have been identified as the cause of RHMs. The present study aimed to understand the association of a...

congenital recessive myotonia is a rare genetic disorder caused by mutations in clcn1, which codes for the main skeletal muscle chloride channel clc-1. more than 120 mutations have been found in this gene. the main feature of this disorder is muscle membrane hyperexcitability. here, we report a 59-year male patient suffering from congenital myotonia. he had transient generalized myotonia, which...

context cystic fibrosis (cf) is the most widespread autosomal recessive genetic disorder that limits life expectation amongst the caucasian population. as the median survival has increased related to early multidisciplinary intervention, other manifestations of cf have emergedespecially for the broad spectrum of hepatobiliary involvement. the present study reviews the existing literature on liv...

background nucleus(t)ide analogs (nas), containing lamivudine (lmv), adefovir dipivoxil (adv), endeavor (etv), telbivudine (ldt), and tenofovir (tdf) are widely used for the treatment of chronic hepatitis b (chb), but long term anti-hepatitis b virus (hbv) therapy with nas may give rise to the emergence of drug-resistant viral mutants. objectives this study aimed to find and identify some new r...

background: iran has a large group of patients with severe congenital factor xiii deficiency (fxiiid) and trp187arg mutation that is most disease causing mutation of fxiii in the world is only observed in southeast of iran with 352 patients with fxiiid. 743 patients with fxiiid was observed in 17 provinces of iran but tehran city with more than 12 million population has no any registered patien...

background :according to numerous studies, fms-like tyrosine kinase 3, internal tandem duplication, and the d835 mutation are associated with a poor prognostic clinical outcome in acute myeloid leukemia patients. detection of the fms-like tyrosine kinase 3 mutation in patients who present with normal karyotype acute myeloid leukemia helps in both the understanding of the disease and the treatme...

Background and Aim: Jaundice is a common disorder in neonates and one of the provable causes of glucose-6-phosphate dehydrogenase (G6PD) deficiency, some mutation types of which may be associated with severe neonatal icter. In this line, the present study has been conducted to compare G6PD mutations in incteric and non icteric neonates. Materials and Methods: This case-control study was imple...

Background Wilson disease (WD) is a rare autosomal recessive disorder, which leads to copper metabolism, due to mutations in ATP7B gene. The gene responsible for WD consists of 21 exons that span a genomic region of about 80 kb and encodes a copper transporting P-type ATPase (ATP7B), a protein consisting of 1465 amino acids. Identifying mutation in ATP7B gene is important to find carrier i...