Genetic evidence for predisposition to acute leukemias due to a missense mutation (p.Ser518Arg) in ZAP70 kinase: a case-control study.

Background: The apparent lack of additional missense mutations data on mixed-phenotype leukemia is noteworthy. Single amino acid substitution by these non-synonymous single nucleotide variations can be related to many pathological conditions and may influence susceptibility to disease. This case-control study aimed to unravel whether the ZAP70 missense variant (rs104893674 (C > A)) underpinning mixed-phenotype leukemia.

Spontaneous miscarriage driven by maternal genetic mutation at position of PAI-1-844G/A: shed light on a race-specific genetic polymorphism.

Objective: Association between a genetic polymorphism and disease, either positively or negatively, within a population may not necessarily predict association in other race-ethnic populations. The aim of this study was to genotype well recognized thrombophilia associated polymorphisms as common risk factors for miscarriage and investigate their benefit to use as risk factors in southwest region of Iran females (Khuzestan) in the Arabs ethnic minority group with spontaneous miscarriage. We developed a Reverse Dot Blot Assay for the genotyping of four polymorphisms.

Highlighting allelic variations at the interleukin-19 locus in term of preeclampsia predisposing factors and access to an accurate diagnostic/screening option.

Background: Preeclampsia is the main cause of preterm parturition and maternal-fetal complications. T helper 1 and T helper 2 cytokines balance is a requirement in normal pregnancy and aberrant in this immunologic balance, play an important role in the pathology of preeclampsia. In previous studies single nucleotide polymorphisms have been associated with the alteration of serum cytokine levels.

Crucial Role of Gene Expression and Mutation in Systemic Lupus Erythematosus, Inferred from Computational and Experimental Approaches.

The impaired suppressive function of regulatory T cells is well-understood in systemic lupus erythematosus. This is likely due to changes in expression that are crucial for regulatory T-cell stability and function. There are a few reports on the correlation between the altered expression level and single-nucleotide polymorphisms within the locus.

Predisposition to Myocardial Infarction Influenced by Interleukin 13 Gene Polymorphisms: A Case-Control Study.

Background: Additional inflammatory responses and subsequent damage-arising from enhance transcriptional activity or forming the more active protein due to existence of polymorphic sites in the pro-inflammatory cytokines gene loci-give rise to myocardial infarction susceptibility.

Objectives: The aim of our study was to explore whether two gene polymorphisms (-1512A/C and +2044G/A) could serve as underpins genetic susceptibility of myocardial infarction.

Methods: The Iranian population that belong to the Parsis ethnic group was involved in the present study.

Turning unprofessional behaviors around using Holmes' reflection approach: a randomized controlled study.

Many medical schools around the world have included professionalism training in their formal curriculum. However, these efforts may not be adequate; given the exposure of students to unprofessional behaviors in the clinical settings. In the present study, we aimed to design, implement, and evaluate a longitudinal program to improve professionalism among medical students upon their transition to clinical settings.

Validating Self-Reflection and Insight Scale to Measure readiness for Self-Regulated Learning.

Background: Professional behavior of physicians is under scrutiny by medical associations, media, and patients; therefore, medical students are expected to be self-directed learners rather than the passive ones. One of the useful strategies for professional development and life-long learning of students is self-regulated learning. Self-regulation concept and lifelong learning commitment are in the heart of medical practice.