Genetic variations of complement factor H and C3 in patients with thrombotic thrombocytopenic purpura (TTP) in northwest of Iran

Background: Thrombotic thrombocytopenic purpura (TTP) is a common form of thrombotic microangiopathy. These patients have renal insufficiency as well as thrombocytopenia and microangiopathic hemolysis. Objectives: The present study was aimed to assess if TTP patients with renal failure have prompting polymorphisms in the complement system genes as seen in patients with the atypical hemolytic uremic syndrome (aHUS). Patients and Methods: Twenty TTP patients and 30 healthy individuals were included. Two single-nucleotide polymorphisms rs3753394 and rs2230199 respectively in the complement factor H (CFH) and complement component 3 (C3) genes were determined using the PCRrestriction fragment length polymorphism (RFLP) method. To evaluate the power of the associations between the polymorphisms and TTP development, odds ratios (ORs) and 95% confidence intervals (CIs) were employed. Results: In rs2230199 polymorphism, the frequency of the C and G alleles and genotype were not significantly different in case and control groups. Moreover, the frequency of T allele and CC, CT, and TT genotypes of the rs3753394 polymorphism in TTP patients were not significantly different from those in the controls, the OR of 0.77 [CI: 0.33 to 1.79] and 0.76 [CI: 0.24 to 2.38], respectively (P > 0.05). Conclusions: Based on our results, there was no significant association between the incidence of TTP and polymorphisms of the CFH and C3 genes, neither at the allele nor at the genotypic levels (P > 0.05). This finding can be affected by the limited sample size or the genetic context of the studied population

Occult Hepatitis B Infection among Hemodialysis Patients in Tabriz, Northwest of Iran: Prevalence and Mutations within the S Region

Regardless of the extensive screening for the detection of hepatitis B surface antigen (HBsAg), hemodialysis (HD) patients are still severely at the risk of occult hepatitis B virus infection (OBI), especially in developing countries. OBI is defined as the presence of HBV DNA with undetectable HBsAg in the liver and/or Serum. This study aims to determine the prevalence of OBI in HD patients in East Azerbaijan Province, northwest of Iran, and inquire about the mutations in the detected HBsAg. In this cross-sectional descriptive study, ELISA method assessed serum and plasma samples of 118 HBsAg-negative patients undergoing HD treatment for HBV serological markers (HBsAg and Anti-HBc). Specific primers by nested polymerase chain reaction have been utilized to examine HBV DNA; also, direct sequencing of surface genes was carried out to characterize the viral genotypes and S gene mutations. Finally, followed by real-time PCR, the quantity of viral load in OBI-positive patients was determined. A total of 118 HD patients were included (63.6% were male and 36.4% female), with an overall mean age of 60.8 ± 12.8 years old. The prevalence of antihepatitis B core antibody (Anti-HBc) in the study population was 26.3% (31/118). Five patients (4.2%) were positive for HBV DNA and labeled OBI-positive; their plasma HBV-DNA load was less than 100 IU/ml. Following the phylogenetic analysis, the samples with OBI roughly belonged to genotype D, subtype ayw2 and only two had mutations within the S ’gene’s major hydrophilic region (MHR), including T123I, C124F, and P127T. This study reports the prevalence of OBI in the HBsAg-negative HD patients being at a rate of 4.2%, which can be a clinically vital consideration in this region. HBV serologic screening approaches need to be renewed to cover nucleic acid testing in the setting of hemodialysis and all the other high-risk groups associated with it (i.e., blood and organ donors)

The association of serum dephosphorylated-uncarboxylated matrix gamma carboxyglutamate protein (dp-ucMGP) as a marker of vascular vitamin K status with allograft function in kidney transplant recipients

Introduction: Kidney transplantation has considerably increased the survival and life quality of patients with end-stage renal disease. Objectives: The current study was designed to investigate the circulating level of dephosphorylateduncarboxylated matrix gamma carboxyglutamate protein (dp-ucMGP) as a marker of vitamin K status and vascular calcification in kidney transplant recipients as well as its association with the allograft function. Patients and Methods: In this cross-sectional study, 90 eligible kidney transplant recipients were evaluated in the post-transplant phase (about 6-12 months after kidney transplantation). The serum levels of dp-ucMGP, urea, creatinine and other biochemical indices were determined. Results: The mean serum level of dp-ucMGP was 3.78±3.79 µg/L. Most of the participants (80%) had a normal range of serum dp-ucMGP (12 µg/L). Serum dp-ucMGP did not have any statistical significant association with serum urea, creatinine and kidney function (P>0.05). Conclusion: Further epidemiologic studies are needed to assess the time trends of dp-ucMGP after renal transplant and its relation to kidney function, since high serum level of dp-ucMGP may make kidney transplant recipients prone to various cardiovascular disease (CVD) and transplant rejection

Renal transplantation in a patient with MHY9-related disease; a case report

MYH9-related diseases (MYH9-RD) are clinically represented by thrombocytopenia, large platelets, proteinuria and various degrees of renal dysfunction. We present a 25-year-old male with thrombocytopenia, large platelets, renal dysfunction and proteinuria. Gene sequencing of whole exons of MYH9 gene confirmed the diagnosis of MYH9-related disorder and revealed single nucleotide polymorphisms (SNPs) in the introns 13 (rs3752462) and 14 (rs2413396) and a mutation in exon 26 of MYH9 gene. Our result supported the possibility of non-coding SNPs involvement in the pathogenicity of the MYH9-RD disease and successful renal transplant in this patient

Renal transplantation in a patient with MHY9-related disease; a case report

MYH9-related diseases (MYH9-RD) are clinically represented by thrombocytopenia, large platelets, proteinuria and various degrees of renal dysfunction. We present a 25-year-old male with thrombocytopenia, large platelets, renal dysfunction and proteinuria. Gene sequencing of whole exons of MYH9 gene confirmed the diagnosis of MYH9-related disorder and revealed single nucleotide polymorphisms (SNPs) in the introns 13 (rs3752462) and 14 (rs2413396) and a mutation in exon 26 of MYH9 gene. Our result supported the possibility of non-coding SNPs involvement in the pathogenicity of the MYH9-RD disease and successful renal transplant in this patient

Cytotoxicity and biocompatibility of Meropenem-loaded graphene oxide and its antibacterial effects against carbapenem-resistant Gram-negative bacteria

The rising prevalence of multidrug-resistant (MDR) bacteria, mainly Gram-negative bacteria, challenges their effective treatment. Graphene oxide (GO) represents antibacterial activities; however, the synergistic effect of GO with conventional antibiotics remains unclarified. Here, meropenem-loaded GO (Mrp-GO) was prepared and its physicochemical and biocompatibility properties along with its inhibitory effect against carbapenem-resistant Gram-negative bacteria were evaluated. Cytotoxicity of Mrp-GO on human bone marrow-derived mesenchymal stem cells (hBM-MSCs) was examined as well. The prepared nanoparticles had suitable and acceptable physicochemical properties. The antibacterial activity of Mrp-GO increased in comparison to the GO and Mrp alone. Moreover, the Mrp-GO had low hemolytic effects at the concentrations required for bacterial inhibition. The cell viability of hBM-MSCs at toxic Mrp-GO concentrations for bacterial isolates was almost 90–100%. The combination of nanostructure and conventional antibiotics can be a promising treatment modality against carbapenem-resistant Gram-negative bacteria