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Kermānshāh, Iran

Galehdari H.,Shahid Chamran University | Emami M.,Jondi Shapour University | Mohammadian G.,Welfare Organization | Khodadadi A.,Jondi Shapour Medical School | And 2 more authors.
Archives of Iranian Medicine | Year: 2013

Glycogen storage disease II (GSDII or Pompe disease, OMIM # 232300) is an autosomal recessive hereditary lysosomal disorder. Mutations in the GAA gene usually lead to reduced acid α-glucosidase (acid maltase, GAA, OMIM *606800, EC activity, which results in impaired degradation and subsequent accumulation of glycogen within lysosomes. We present an Iranian boy, who was diagnosed with GSDII based upon clinical and biochemical findings. A single adenine insertion (insA) was detected at codon 693 that leads to a predicted premature stop codon at codon 736 in the GAA gene. The parents were heterozygous for the same change. According to the human genome mutation database (www.hgmd.org) and lecture reviews, the detected change is a novel mutation. We suppose that the discovered insertion in the GAA gene might lead to a reduced activity of the gene product. This assumption is in agreement with biochemical and clinical signs in the patient.

Askian P.,University Putra Malaysia | Askian P.,University of Applied Science and Technology of Iran | Krauss S.E.,University Putra Malaysia | Baba M.,University Putra Malaysia | And 2 more authors.
International Journal of Mental Health and Addiction | Year: 2016

Substance use disorder is known to adversely affect both the user as well as his or her family members. A consequence of chemical dependence on family members is co-dependence. Co-dependence is associated with an excessive focus on the needs and behaviors of the person with substance use disorder. Most studies in the field of drug-related problems in Iran have focused on the substance user, while few studies have been carried out on the family members. A qualitative case study approach was employed to explore characteristics of co-dependence among wives of persons with substance use disorder in Iran where substance use disorder is a notable social harm. Purposive snowball sampling technique was used to identify 11 Iranian wives of individuals with substance use disorder. The data were collected through in-depth, face-to-face interviews, non-participation observation, and document analysis. Data were analyzed using the constant comparative method. The analysis yielded five main characteristics of co-dependence among wives of persons with substance use disorder, namely: Denial, enabling behavior, low self-worth, enmeshed self, and weak spiritual relationship with God. The findings showed that except for a weak spiritual relationship with God, most of the characteristics of co-dependence among the participants were similar to the traits of co-dependents found in previous studies conducted outside Iran. © 2016, Springer Science+Business Media New York.

Shams Alizadeh N.,Kurdistan University of Medical Sciences | Rezaei F.,Kurdistan University of Medical Sciences | Maroufi A.,Kurdistan University of Medical Sciences | Motasami H.,Welfare Organization
Journal of Babol University of Medical Sciences | Year: 2012

Background and Objective: Most of the anticholinergic agents abuse are among the medications used for the treatment of neuroleptics induced parkinsonism. These drugs are abused orally or parenterally in psychiatric patients dominantly in psychotic patients. We reported a Case of anticholinergic drug dependence in a patient who received it for reduction of withdrawal symptoms but abused it by smoking later. Case: A 25 year old opioid dependent man previously treated with methadone referred to psychiatry clinic for detoxification of opioids. But he abused prescribed Hyoscine-NBB tablets by smoking willfully in order to reduce nausea and abdominal pain. He continued to abuse because of its euphorogenic effects and withdrawal symptoms such as restlessness, anxiety, insomnia and loss of appetite appeared when he discontinued. During 16 days of admission maintenance methadone therapy began to treat the opioid dependence and hyoscine was tapered concurrently. Despite significant improvement he did not follow the treatment when discharged.

Pooragha F.,Semnan University | Kafi S.-M.,Guilan University | Sotodeh S.-O.,Welfare Organization
Iranian Journal of Pediatrics | Year: 2013

Objective: The aim of this study was investigating and comparing two components of executive functioning in children with high function autism with normal children. Methods: this study was correlation descriptive (causal-comparative). There were two groups, one consisted of 15 participants of children with high function autism disorder (Intelligence quotient [IQ]>80) and the other consisted of 15 normal children, all age and education matched. They were compared with two neuro- cognitive tests, Color Word Stroop and Wisconsin Card Sorting, and one IQ test called Ravens Progressive Matrices test. Findings: Analysis of data showed significant difference in both executive functionings, response inhibition (Stroop) and flexibility (Wisconsin Card Sorting) between normal children and children with autism disorder, but there was no significant relation between age and IQ and executive functioning in children with autism. Conclusion: The results showed that children with autism disorder have deficits in executive functions regardless of their IQ level and it can be attributed to the symptoms of autism spectrum disorders. © 2013 by Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, All rights reserved.

Galehdari H.,Shahid Chamran University | Mohammadian G.,Welfare Organization | Azmoon S.,Genetic Diagnostic Laboratory | Salehi B.,Genetic Diagnostic Laboratory | Pedram M.,Research Center for Thalassemia and Hemoglobinopathies
Journal of Molecular Diagnostics | Year: 2010

Dystrophic epidermolysis bullosa is a heritable skin disorder with dominant and recessive genetic patterns. Numerous studies underline that both forms are caused by mutations of the COL7A1 gene, which encodes collagen type VII. It has been reported that most mutations detected in the recessive disease form are nonsense mutations or small insertions or deletions leading to frameshift and premature translational termination, which tend to produce severe phenotypes. In contrast, missense mutations causing amino acid substitutions, which result in variable phenotypes, predominate in the dominant form of dystrophic epidermolysis bullosa. Genomic DNA from the patient and parents was subjected to PCR amplification of the coding region of the COL7A1 gene. Direct sequencing of the PCR products revealed a homozygous single-base deletion in the patient (c.6269-6270delC). The parents were heterozygous for the same mutation. This deletion is a novel mutation in the human COL7A1 gene based on comparisons with the Human Genome Mutation Database. To our knowledge, this is the first report of dystrophic epidermolysis bullosa in an Iranian patient confirmed by molecular diagnosis. Copyright © American Society for Investigative Pathology and the Association for Molecular Pathology.

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