Department of Medical Genetics (2004 - Present)
Human Genetics
, Newcastle, England
Objective: Recent studies have shown the role of autophagy in different types of cancer including lung cancer. MicroRNAs are considered as key factors in regulation of autophagy related genes. miR-30d, miR-204-5p and miR-20a are regulatory markers which can suppress the expression of beclin1, LC3, bcl2 and ULK1 as their target genes and they lead to decrement of autophagy in human cancer cells. Moreover, epigenetic modifications DNA methylation has been indicated in regulation of autophagy in different stages of cancer. Methods: In this study, the expression levels of miR-30d, miR-204-5p and miR-20a as well as their target genes were analyzed in 30 non-small cell lung cancers (NSCLCs) patients sample and adjacent normal tissues by real-time
The CGG repeats in the FMR1 gene expand in patients with fragile X syndrome, fragile X-associated tremour/ataxia syndrome and fragile X-associated primary ovarian failure. In this study, the CGG repeats in the FMR1 gene were studied in 449 males and 207 females using traditional polymerase chain reaction and triplet repeat primed PCR methods, also 18 CVS samples (six males and 12 females) were tested for prenatal diagnosis. Further, methylation sensitive multiplexed ligation dependent probe amplification was performed on some samples to confirm the results. Regarding the male patients, 1.1% and 9.7% had premutation (PM) and full mutation (FM) alleles, respectively. Also three (0.66%) male patients were mosaic for PM and FM alleles. Among fe
Hereditary spastic paraplegia (HSP) includes a number of inherited disorders which are characterized by stiffness in the lower extremities and progressive gait disturbance. Mutations in terms of spastic gait genes (SPGs) are responsible for occurrence of different types of HPS with autosomal recessive, X-linked recessive, and autosomal dominant modes of inheritance. In the current case report, we identified a mutation in SPG11 gene in a female patient with progressive stiffness of lower extremities and atrophy of corpus callosum and the “lynx ear” sign in brain MRI. Whole exome sequencing (WES) revealed a homozygote frameshift deletion variant in SPG11 gene (NM001160227: exon 28: c. 4746delT, p. N1583Tfs* 23). This variant is a null var
Objective: Sexual abuse of children and adolescences is a global phenomenon. These behaviors have a destructive effect on the mental health of adolescents. The aim of this study was to determine the effectiveness of ACT-CBT therapy and parent management training (PMT) on the post-traumatic stress disorder symptoms of adolescent boy with sexual abuse.Methods: The research method was semi-experimental, and research design was three groups (one group ACT-CBT therapy, one group PMT and one group of control) with three stages of pre-test, post-test and two months follow-up. Among fifty 14-18 years old adolescent boys with sexual abuse in Isfahan, in the summer 2018, 45 adolescent were selected based on criteria of entry and then randomly assigne
Spinal cord injury (SCI) is the destruction of spinal cord motor and sensory resulted from an attack on the spinal cord, which can cause significant physiological damage. The inflammasome is a multiprotein oligomer resulting in inflammation; the NLRP3 inflammasome composed of NLRP3, apoptosis-associated speck-like protein (ASC), procaspase-1, and cleavage of procaspase-1 into caspase-1 initiates the inflammatory response. Subventricular Zone (SVZ) is the origin of neural stem/progenitor cells (NS/PCs) in the adult brain. Extracellular vesicles (EVs) are tiny lipid membrane bilayer vesicles secreted by different types of cells playing an important role in cell-cell communications. The aim of this study was to investigate the effect of intrat
Background The upregulation of TNF-α, IL-1β, IL-18, and IL-6 exacerbates the spinal cord injury by amplifying the neuroinflammation. Impeding the release and activation of these cytokines can stop the progression of lesion and promote healing. Modulating the inflammatory response with subventricular zone-derived extracellular vesicles (SVZ-EVs) is one highly promising approach. Methods and materials SVZ tissue was cultured and EVs were prepared, isolated, and injected intrathecal, in spinal cord-injured (SCI) rats. BBB locomotor scoring, qRT-PCR, Western Blot, H&E, and Nissl staining techniques were applied to record the outcomes. Results The intracisternally injected SVZ-EVs significantly decreased the gene and protein expression o
Materials and Methods: The research method was quasi-experimental, and research design was a three group design. 45 male adolescents were selected by purposive sampling method in Isfahan in 2018 and were randomly assigned to two experimental and one control group (each group 15 persons). Data were collected through depression and anxiety questionnaires at three time points before, after and two months later (follow up). The integrative acceptance and commitment-cognitive behavioral therapy and parent management training received treatment in 10 sessions. The data were analyzed through repeated measure analysis of variance and post-hoc Bonferroni test.Results: Results revealed that integrative acceptance and commitment-cognitive behavioral t
Immune system has a prominent role in both prevention and treatment of leukemia. Based on the role of human leukocyte antigen (HLA) in determination of response to therapeutic options and risk of development of leukemia, several studies have addressed association between HLA alleles and this disorder. Here, we conducted a single-center analysis of HLA-A/-B/-DRB1 distribution in Iranian patients with acute leukemia. The study enrolled 92 patients with acute lymphoblastic leukemia (ALL), 76 patients with acute myeloid leukemia (AML) and 90 healthy controls. HLA-A/-B/-DRB1 alleles were identified using PCR method with sequence specific primers. There was no significant difference in distribution of HLA-A/-B/-DRB1 alleles between three study su
Activation of inflammasome complexes during spinal cord injury (SCI) lead to conversion of pro-inflammatory cytokines, interleukin-1beta (IL-1β) and interleukin-18 (IL-18) to their active form to initiates the neuroinflammation. Mesenchymal stem cells (MSCs) showed anti-inflammatory properties through their extracellular vehicles (EVs). We investigated immunomodulatory potential of human Wharton's jelly mesenchymal stem cells derived extracellular vesicles (hWJ-MSC-EVs) on inflammasome activity one week after SCI in rats. The gene expression and protein level of IL-1β, IL-18, tumor necrosis factor alpha (TNF-α) and caspase1, were assessed by QPCR and western blotting. Immunohistochemistry (IHC) was done to measure the glial fibrillary ac
Conclusions: According to the research findings, it is suggested that the integrative ACT-CBT should be used in the treatment of boy adolescents who encountered with sexual abuse to reduce the symptoms of post-traumatic stress disorder.
MATERIALS AND METHODS:There were two approaches in both qualitative and cross-sectional studies. At first, using semi-structured interviews with 52 performance appraisers, data related to the challenges of promoting the health system performance assessment were collected and thematically analyzed. Then, in cross-sectional terms, the performance appraisers were provided with researcher-made checklists which contained a list of challenges to determine the priority of challenges by scoring. The data were handled and analyzed using MAXQDA Plus version 12 and Microsoft Excel.RESULTS:Our results revealed five themes and ten subthemes on the challenges of promoting the health system performance assessment. Themes (subthemes) included infrastructur
Background:Ischemic stroke, as a health problem caused by the reduced blood supply to the brain, can lead to the neuronal death. The number of reliable therapies for stroke is limited. MSCs exhibit therapeutic achievement. A major limitation of MSC application in cell therapy is the short survival span. MSCs affect target tissues through the secretion of many paracrine agents including EVs. This study aimed to investigate the effect of HUCPVCs-derived EVs on apoptosis, functional recovery, and neuroprotection.Methods:Ischemia was induced by MCAO in male Wistar rats. Animals were classified into sham, MCAO, MCAO+ HUCPVC, and MCAO+ EV groups. Treatments began at two hours after ischemia. Expressions of apoptotic-related proteins (BAX/BCl-2 an
Spermatogonial stem cells (SSCs) are very sensitive to chemotherapy and radiotherapy, so male infertility is a great challenge for prepubertal cancer survivors. Cryoconservation of testicular cells before cancer treatment can preserve SSCs from treatment side effects. Different two-dimensional (2D) and three-dimensional (3D) culture systems of SSCs have been used in many species as a useful technique to in vitro spermatogenesis. We evaluated the proliferation of SSCs in 2D and 3D culture systems of platelet-rich plasma (PRP). testicular cells of four brain-dead patients cultivated in 2D pre-culture system, characterization of SSCs performed by RT-PCR, flow cytometry, immunocytochemistry and their functionality assessed by xenotransplantatio
Schizophrenia (SCZ) is a chronic mental disorder. Many genes and environmental factors are involved in SCZ development. NrCAM is a candidate gene for schizophrenia and has been reported in many studies with conflicting results (Ayalew, Le-Niculescu, et al. 2012). NrCAM encodes the neuron cells' adhesion protein molecule and is located on 7q31. 1. The Northern Blotting technique showed a 2 kb transcript of NrCAM in all brain tissues. The 7.0 kb transcript of NrCAM is highly expressed in the brain medulla, adrenal, and adrenal cortex (Lane, et al., 1996, Wang, Williams, Du, Terrett, & Kenwrick, 1998). NrCAM owns 36 exons and is involved in WNT and CAM's signaling pathways (Chen & Zhou 2010, Zhang et al., 2015). NrCAM is one of the twelve gene
COVID-19 management is a hot topic due to its extensive spread across the world and the declaration of pandemic status. How a crisis is managed in each country is influenced by several factors, and various strategies are applied in accordance with these factors in order to manage the crisis. Due to the rapid spread and increasing trend of the crisis and the fact that almost more than half of the countries are engaged in this pandemic, it is impossible to apply trial-and-error based strategies. One of the best strategies is to use the experiences of other countries in dealing with COVID-19. This report explores the advantages and weaknesses of the Islamic Republic of Iran in the management of this crisis in regard with political economic and
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