Association between thrombophilia gene polymorphisms and recurrent pregnancy loss risk in the Iranian population.

Miscarriage is the most common complication in pregnancy. Considering the importance of the problem thrombophilia in pregnant women and its association with recurrent pregnancy loss (RPL), analysis of polymorphisms of genes involved in thrombophilia can be useful. We investigated the frequency and association between ten polymorphisms of seven thrombophilia genes and RPL in an Iranian population. This case-control study was conducted on 200 women with recurrent pregnancy loss and also on 200 women with at least one successful pregnancy as the control group. Using PCR-RFLP, DNA from samples were analyzed for carrying A5279G, A4070G, and FV Leiden of factor V; FXIII (Val34Leu); FII (A20210G); BF (-455 G/A); ITGB3 (1565T/C); 677C/T and 1298A/C of MTHFR; and PAI-1 (-675 I/D, 5G/4G) polymorphisms. The BF(-455 G/A), MTHFR (677 C/T, 1298A/ C), PAI-1 (-675 I/D,4G/ 5G), FV Leiden, FV (A5279G), FXIII (Val34Leu) polymorphisms, which had shown positive relation, and ITGB3 1565T/C were the polymorphisms with negative relation to RPL. But in this study it is indicated that there is no significant association between FII (A20210G) and FV (A4070G) polymorphism and RPL. All the data acquired from the RPL patients in this experiment illustrate the importance of screening thrombophilia. Nevertheless, more studies on large-scale populations may be needed to identify novel genetic variants. ABBREVIATIONS: ASRM: American Society of Reproductive Medicine; HHCY: hyperhomocysteinemia; MTHFR: methylenetetrahydrofolate reductase; PCR: polymerase chain reaction; PAGE: poly-acrylamide gel electrophoresis; RPL: recurrent pregnancy loss.

Comparative evaluation of oral and dento-maxillofacial manifestation of patients with sickle cell diseases and beta thalassemia major.

BACKGROUND: Regarding the importance of oral and dental health in patients with hemoglobinopathies and also due to the different results of different studies in this background, in patients with beta thalassemia (BTM) and sickle cell disease (SCD), this study aimed to evaluate and compare the oral and dental manifestations of patients with BTM and SCD. MATERIAL AND METHODS: In this cross-sectional study during the years 2014-2017, a total of 175 patients (with documented BTM or SCD attending to Tehran, Mashhad, Isfahan, and Tabriz cities central hospitals) were randomly recruited. Required information was gathered through a thorough physical examination of the oral cavity in a private office and a face-to-face interview by an orthodontist and two dentists. Data were analyzed using SPSS version 22.0. RESULTS: In general, 120 diagnosed patients with BTM (88 males and 32 females) and 55 patients with SCD (25 males and 30 females) attending to Iran largest cities, central hospitals were randomly recruited. We found a significantly higher prevalence (p < .05) of some oral manifestations among the BTM patients (Gingival Index = 2.18 ± 1.300, 1.64 ± 0.963; Decayed teeth = 8.31 ± 3.330, 2.33 ± 1.221; Missing teeth = 3.51 ± 2.016, 1.19 ± 0.820; DMFT = 13.92 ± 7.001, 2.63 ± 1.301) than the apparently healthy people. CONCLUSION: Finally, the study gives an insight into the various oral and dento-maxillofacial manifestations of SCD and BTM and also reveals an association that exists between the oral and dento-maxillofacial manifestations and systemic health in these patients, thus stressing the importance of the concise and periodic examination of these individuals to perform appropriate preventive dental and periodontal care, and the facilitation of the management of the disease.

Alloimmunization against platelets, granulocytes and erythrocytes in multi-transfused patients in Iranian population.

BACKGROUND: This study aims at alloantibody screening, determination of the types of these antibodies in multiple-transfused patients with chronic hematologic diseases. PATIENTS AND METHODS: This descriptive study was performed on 240 patients with chronic hematological diseases referred to public hospitals in Iran. Single blood sample was taken and tested for the presence of antibodies. In case of a positive antibody screening, antibody identification was performed using granulocyte agglutination test (GAT), granulocyte indirect immunofluorescence test (GIIFT), platelet indirect immunofluorescence test (PIIFT), monoclonal antibody-specific immobilization of platelet antigen (MAIPA) and panel cells. RESULTS: Out of 240 patients, 105 patients (43.75 %) had been alloimmunized. The incidence of alloantibodies against red blood cells (RBCs) in positive alloantibodies patients were 84.76% (89/105). The most common alloantibody was against antigens of the kell (anti-K) and Rh (anti-E) and (anti D) systems (46.66%, 18.09% and 11.43% respectively). The overall incidence of anti- human leukocyte antigen (HLA) antibodies were 65.7% (69/105). Polymorphonuclear (PMN)-specific antibodies were found in 6.66% (7/105). Also from 105 patients, 14 patients had alloantibodies against platelet. DISCUSSION: In general, it is recommend that to decrease the rate of alloantibody synthesis, the packed cells should be cross matched for minor blood groups especially for Rh (E) and kell. In addition, the use of leukodepleted blood products can decrease the frequency of alloimmunization against platelet (PLT), PMN and HLA antigens.

Association between expression of MMP-2 and MMP-9 genes and pathogenesis of intracranial hemorrhage in severe coagulation factor XIII deficiency.

Background Matrix metalloproteinases (MMPs) play a key role in the degradation of basement membrane and extracellular matrix in tissue remodeling, and are involved in pathogenesis of intracranial hemorrhage (ICH). Despite replacement therapy, ICH is by far the main cause of bleeding-related death among patients with severe factor XIII deficiency (FXIIID). The aim of this study is to evaluate the association between MMP-2 and MMP-9 genes expression and ICH in these patients. Materials and methods Quantitative real-time reverse transcription (RT)-PCR assay was used to quantify MMP-2 and MMP-9 mRNAs in 42 specimens of patients with FXIIID including 18 case and 24 control groups. The comparative method of relative quantification (2-Delta-Delta-cCt) was utilized to analyze the expression level of each target gene. The expression level of glyceraldehyde-3-phosphate dehydrogenase was used to standardize the expression levels of MMPs. Results Umbilical bleeding was the most common clinical manifestation among all patients. We found expression upregulation of MMP-9 gene in 13 patients (72.2%) in case and 3 patients (12.5%) in control group, indicating a significant difference between cases and controls for MMP-9 gene expression level (P = 0.001%)(CI 2.8-95.3). Conclusions Our patients present with a wide spectrum of clinical symptoms, which are important in screening and diagnosis of patients with FXIIID. We hypothesized that the overexpression of MMP-9 due to polymorphisms or inflammation was associated with pathogenesis of ICH in FXIIID. This effect can be attenuated by nonspecific MMP inhibition to reduce hospitalization and death rates in these patients.

Evaluation of liver and kidney function in favism patients.

BACKGROUND: G6PD deficiency is the most common enzymopathy of red blood cells. The clinical symptoms of favism are jaundice, hematuria and haemolytic anaemia that seem to affect liver and kidney in long term. Thus we evaluate kidney and liver function of favism patients in an endemic area of the disease with a high rate of fava beans cultivation. METHODS: This study was performed on favism patients and healthy controls referring to Iranshahr central hospital. Liver and kidney function tests were performed. RESULTS: The results showed a statistically significant difference between these two groups (p <0.05) for liver function tests, (AST, ALT and ALP), but not for renal tests (BUN and creatinine) (p >0.05). CONCLUSION: Due to abnormalities were seen in the liver function tests of these patients, we suggest that these tests be regularly performed for favism patients who are constantly exposed to oxidant agents.