Genetics of Posttraumatic Stress Disorder — Candidate Genes and Their Implication in the Disease-Associated Molecular Pathomechanisms

Posttraumatic stress disorder (PTSD) is a complex psychiatric disorder (DSM-V code: 309.81; ICD-10 codes: F43.1). PTSD is an anxiety disorder developed in a person experiencing, witnessing, or learning about an extreme physically or/and psychologically distressing event. Its incidence and the number of this disease-affected people are threateningly increasing in contemporary society. Therefore, the development of prognostic strategies and novel efficient methods on early diagnostics and treatment of PTSD is currently considered as one of the most important healthcare problems worldwide

The Effect of human papilomavirus on esophageal cancer: A double blind study in north of Iran

The virus HPV is involved in some kinds of cancers and the DNA of this virus has been observed in skin , genitalia and oral tumors. Among them nearly 30-40 kinds are transfered sexually which have the ability to make sexual wart and cervical cancer.  HPV is one of the affective factors in esophageal cancer as well. the aim of this study was to examine the Effect of human papilomavirus  on esophageal cancer in north of Iran. This was a double blinded case control study conducted in north of  Iran. The total of 40 tumor biopsies plus 40 samples of the control groups have been analysed applying primer Gp5+ &Gp6+ which are capable of detection high risk types. Results of this study indicates that there were no results confirming the affection of HPV in 40 examined patients as the case group comparing with their couples as the control arm. Non existing HPV virus can be referred to different life style for  example different sexual habits ,and the other reason is the aging of affected people. According this fact hat affection to virus HPV, as an environmental factor, is extremely influenced by people life style, and capability of this virus in induction esophageal cancer. Key word: Human papilomavirus, esophageal cancer, north of Iran

Increased levels of circulating Annexin A5 in Familial Mediterranean fever

<p>Abstract</p> <p>Background</p> <p>Familial Mediterranean fever is a genetic autoinflammatory disease most commonly affecting the ethnic groups originating from around the Mediterranean Sea. Apoptosis plays an important role in down-regulation of the inflammatory response by reducing the lifespan of activated immunocompetent cells. Thus, increased apoptosis may be associated with pathogenesis of familial Mediterranean fever.</p> <p>Methods</p> <p>In the present study we determined the serum levels of apoptotic marker, Annexin A5, in familial Mediterranean fever patients, within an attack and attack-free, in comparison to healthy subjects and assessed the influence of colchicine treatment on this parameter. In addition, in all study subjects serum levels of C-reactive protein and interleukine-1β, and the total leukocyte count were also determined.</p> <p>Results</p> <p>Our results demonstrated that pathogenesis of familial Mediterranean fever is characterized by the increased levels of circulating Annexin A5, which is higher in patients within the attack and which associate with the increased levels of C-reactive protein and interleukine-1β and total leukocyte count.</p> <p>Conclusions</p> <p>The results obtained indicate elevated rates of apoptosis of subpopulations of leukocytes involved in autoinflammation and recurrent episodes of fever in familial Mediterranean fever. It was also revealed that regular colchicine treatment sufficiently decreases the rate of apoptosis in familial Mediterranean fever patients by affecting the intensity of autoinflammatory reactions.</p

Alterations in the complement cascade in post-traumatic stress disorder

<p>Abstract</p> <p>Background</p> <p>In the present study we assessed the functional state of the major mediator of the immune response, the complement system, in post-traumatic stress disorder (PTSD).</p> <p>Methods</p> <p>Thirty one PTSD patients within 13 years from traumatic event and the same number of sex- and age-matched healthy volunteers were involved in this study. In the blood serum of the study subjects hemolytic activities of the classical and alternative complement pathways, as well as the activities of the individual complement components have been measured. Correlation analysis between all measured parameters was also performed.</p> <p>Results</p> <p>According to the results obtained PTSD is characterized by hyperactivation of the complement classical pathway, hypoactivation of the complement alternative pathway and overactivation of the terminal pathway.</p> <p>Conclusions</p> <p>The results obtained provide further evidence on the involvement of the inflammatory component in pathogenesis of PTSD.</p

E2A/PBX1, MLL/AF4, BCR/ABL (M-BCR), BCR/ABL(m-BCR) gene rearrangements in acute lymphoblastic leukemia in Iranian children

Objectives: The following observation was primarily based on the study of gene fusion in blood and bone marrow cells taken from 68 Iranian children with acute lymphoblastic leukemia (ALL), to compare with healthy population. Methods: Peripheral blood and bone marrow samples obtained from patients with ALL were immunophenotyped to determine the lineage and the level of differentiation. With reverse transcriptase-polymerase chain reaction (RT-PCR), the RNA molecules were analyzed according to Van Dongen et al. protocol to detect fused genes in cell population. Results: Leukemic cell type was identified by cytochemical stains and classified on the basis of FAB classification. Nonetheless the frequencies of E2A/PBX1, MLL/AF4, BCR/ABL (M-BCR) and BCR/ABL(m-BCR) gene transcripts were 1.5, 0, 0 and 4.4 respectively. The positive case of E2A/PBX1 fusion gene had an early pre B and 3 BCR/ABL (m-BCR). Positive cases had an early pre B and pre-B ALL immunophenotype. Conclusions: Early pre-B cells were the most common types in our patients. The RT-PCR was shown to be an ideal method for detecting hybrid transcripts and to estimate the prevalence of the fusion genes in ALL patients. The frequency of these fusion genes in Iranian pediatric ALL patients were found to be similar to some developed countries. Thus, their presence does not seem to be predictive of increasing malignancy, but rather it can challenge the prognostic significance of these rearrangements. © 2018, Holder Demo

Association of C1QB gene polymorphism with schizophrenia in Armenian population

<p>Abstract</p> <p>Background</p> <p>Schizophrenia is a complex, multifactorial psychiatric disorder. Our previous findings indicated that altered functional activity of the complement system, a major mediator of the immune response, is implicated in the pathogenesis of schizophrenia. In order to explore whether these alterations are genetically determined or not, in the present study we evaluated the possible association of complement C1Q component gene variants with susceptibility to schizophrenia in Armenian population, focusing on four frequent single nucleotide polymorphisms (SNPs) of <it>C1QA </it>and <it>C1QB </it>genes.</p> <p>Methods</p> <p>In the present study four SNPs of the complement C1Q component genes (<it>C1QA</it>: rs292001, <it>C1QB </it>rs291982, rs631090, rs913243) were investigated in schizophrenia-affected and healthy subjects. Unrelated Caucasian individuals of Armenian nationality, 225 schizophrenic patients and the same number of age- and sex-matched healthy subjects, were genotyped. Genotyping was performed using polymerase chain reaction with sequence-specific primers (PCR-SSP) and quantitative real-time (qRT) PCR methods.</p> <p>Results</p> <p>While there was no association between <it>C1QA </it>rs292001, <it>C1QB </it>rs913243 and rs631090 genetic variants and schizophrenia, the <it>C1QB </it>rs291982*G minor allele was significantly overrepresented in schizophrenic patients (G allele frequency 58%) when compared to healthy subjects (46%, OR = 1.64, <it>p</it>_corr= 0.0008). Importantly, the susceptibility for schizophrenia was particularly associated with <it>C1QB </it>rs291982 GG genotype (OR = 2.5, <it>p</it>_corrected= 9.6E-5).</p> <p>Conclusions</p> <p>The results obtained suggest that <it>C1QB </it>gene may be considered as a relevant candidate gene for susceptibility to schizophrenia, and its rs291982*G minor allele might represent a risk factor for schizophrenia at least in Armenian population. Replication in other centers/populations is necessary to verify this conclusion.</p

Multidrug-resistance and presence of class 1 integrons in clinical isolates of Salmonella enterica serotype Enteritidis, circulating in Armenia

Abstract. The aim of this work was detection of class 1 integrons and their contribution to the antimicrobial resistance phenotypes in strains of   subspecies enterica serotype Enteritidis. S. Enteritidis strains (n = 29) were isolated from patients with salmonellosis at “Nork” Clinical Hospital of Infectious Diseases, Yerevan, Republic of Armenia. High prevalence of multi-drug resistance (MDR) phenotypes was revealed and isolates with MDR phenotypes which are rare in the S. Enteritidis serotype were observed. Class 1 integrons were detected in 27,6% of isolates, with the prevalence of a variable region of 1000 bp. Occurrence of the MDR phenotype was more frequent in integron-positive isolates compared to integron-negative isolates of S. Enteritidis. Further studies are necessary to reveal the genetic background of MDR phenotypes and to estimate the genetic kinship among the isolates. Our results suggest a rapid and large-scale penetration of antibiotic resistance genes into populations of S. Enteritidis, which complicates infection control. More rigorous regulations should be imposed on antibiotic use, together with a vigilant epidemiological surveillance, to prevent the emergence and spread of MDR S. Enteritidis

Functional characterization of the complement receptor type 1 and its circulating ligands in patients with schizophrenia

<p>Abstract</p> <p>Background</p> <p>Whereas the complement system alterations contribute to schizophrenia, complement receptors and regulators are little studied. We investigated complement receptor type 1 (CR1) expression on blood cells, the levels of circulating immune complexes (CIC) containing ligands of CR1, C1q complement protein and fragments of C3 complement protein (C1q-CIC, C3d-CIC), and CR1 C5507G functional polymorphism in schizophrenia patients and controls.</p> <p>Results</p> <p>We found an increased C1q-CIC level and CR1 expression on blood cells, elevated number of CR1 positive erythrocytes and reduced number of CR1 positive lymphocytes and monocytes in patients compared to controls. No difference in the levels of C3d-CIC between groups was observed. Higher CR1 expression on erythrocytes in CC genotype versus CG+GG for both groups was detected, whereas no difference was observed for other cell populations. Our results indicated that schizophrenia is associated with the increased CR1 expression and C1q-CIC level.</p> <p>Conclusions</p> <p>Our study for the first time indicated that schizophrenia is associated with the increased CR1 expression and C1q-CIC level. Further studies in other ethnic groups are needed to replicate these findings.</p