Abstract：
BACKGROUND:Glutaric Aciduria type 1 (GA1) is a metabolic inborn error and is characterized by increasing excursion of glutaric acid and its derivates, presented in microcephaly and dystonia. The disease is resulted from mutational inactivation in the GCDH gene encoding the glutaryl-CoA dehydrogenase. The defective enzyme causes the accumulation of an excessive level of intermediate breakdown products that leads to the brain damage. In spite of the clinical features, diagnosis of GAI has been often confusing, because of variability in the clinical manifestations of patients. Early diagnosis and treatment can though prevent irreversible disease progression and consequent brain damage; otherwise the affected individuals will die in their first decade of lives. METHODS:The GCDH gene was also analyzed to (detect or identify) disease causing mutations using gene amplification and direct sequencing in 18 patients. RESULTS:Among 18 patients, 10 patients (55.5%) were homozygous or compounded heterozygous for the recurrent mutation E181Q, three patients (16.7%) were homozygous for the known mutation R402Q and one patient (5.6%) was compound heterozygous for S255L. All three detected missense mutations are pathogenic, which cause structural changes in the binding site and tetramerization or functional deficiency. Four other individuals (22.2%) with a preliminary diagnosis of GAI were negative for any pathogenic mutations. CONCLUSION:Most GA1 affected persons in southwest Iran are with Persian ethnicity and the most common mutation in Khuzestan Province is prominent in comparison to previous reports from Iran.
journal_name
Arch Iran Medjournal_title
Archives of Iranian medicineauthors
Baradaran M,Galehdari H,Aminzadeh M,Azizi Malmiri R,Tangestani R,Karimi Zdoi
0141709/AIM.009subject
Has Abstractpub_date
2014-09-01 00:00:00pages
629-32issue
9eissn
1029-2977issn
1735-3947pii
009journal_volume
17pub_type
杂志文章abstract：:As there is a significant number of Iranian immigrant and illegal refugees living in marginal areas of large cities that might induce immunization gap in these areas. The aim of this study was to provide reliable information on vaccination status of these people. A cross sectional study was conducted on children 24-4...
journal_title：Archives of Iranian medicine
pub_type： 杂志文章
doi：0141710/AIM.0011
更新日期：2014-10-01 00:00:00
abstract：BACKGROUND:There is controversial data available regarding the impact of age at menarche on cardio-metabolic parameters. This community-based study aimed to assess this association among Iranian women. METHODS:We recruited 5,344 eligible women out of 7718, aged 10-50 years who participated in the Tehran lipid and gluc...
journal_title：Archives of Iranian medicine
pub_type： 杂志文章
doi：
更新日期：2019-09-01 00:00:00
abstract：BACKGROUND:Phyllodes tumor (PT) is a rare tumor of the breast, which may occur during pregnancy or lactation. Several studies have reviewed and discussed PT occurring in pregnancy, gathering up to 14 patients. We performed a thorough systematic review of the literature in an attempt to find all reported cases, and iden...
journal_title：Archives of Iranian medicine
pub_type： 杂志文章
doi：10.34172/aim.2020.46
更新日期：2020-07-01 00:00:00
abstract：:Primitive neuroectodermal tumors are fairly rare in uterus. A case of uterine body primitive neuroectodermal tumor in a 32-year-old Iranian woman is presented. The patient was admitted with abdominal pain and fever and underwent emergency exploratory surgery with total abdominal hysterectomy, bilateral salpingo-oophor...
journal_title：Archives of Iranian medicine
pub_type： 杂志文章
doi：015184/AIM.0014
更新日期：2015-04-01 00:00:00
abstract：BACKGROUND:Critical analysis of shortcomings of emergency medical management of earthquake casualties will provide an invaluable insight to improve outcomes for future events. Using a critical analysis methodology to evaluate the quality of emergency medical management after Bam earthquake, we suggest a practical strat...
journal_title：Archives of Iranian medicine
pub_type： 杂志文章
doi：
更新日期：2009-07-01 00:00:00
abstract：BACKGROUND:Paraquat is a bipyridil herbicide and in appropriate and careful usage, will not be health threatening. Most adult cases of intoxication are due to suicidal attempts rather than accidental exposure. Therapeutic response has been reported to be appropriate with high doses of cyclophosphamide and glucocorticoi...
journal_title：Archives of Iranian medicine
pub_type： 杂志文章,随机对照试验
doi：08114/AIM.009
更新日期：2008-07-01 00:00:00
abstract：BACKGROUND:The threshold of thyroid-stimulating hormone (TSH) in current screening for congenital hypothyroidism (CH) from the heel prick test is 5 mU/l. This study uses cost-effective analysis to evaluate increasing the threshold to minimize false-positive results and recall rates. METHODS:Cost of screening, diagnosi...
journal_title：Archives of Iranian medicine
pub_type： 杂志文章
doi：012153/AIM.006
更新日期：2012-03-01 00:00:00
abstract：BACKGROUND:(125)I is one of the important sources frequently used in brachytherapy. Up to now, several different commercial models of this source type have been introduced to the clinical radiation oncology applications. Recently, a new source model, IrSeed-125, has been added to this list. The aim of the present study...
journal_title：Archives of Iranian medicine
pub_type： 杂志文章
doi：0161903/AIM.006
更新日期：2016-03-01 00:00:00
abstract：BACKGROUND:Comorbidity of psychiatric disorders and substance abuse can intensify both conditions, and when advanced age is added to the combination, the patient will face a distinctive array of issues. This study evaluated the prevalence of psychiatric disorders in elderly substance users as well as certain related fa...
journal_title：Archives of Iranian medicine
pub_type： 杂志文章
doi：0151811/AIM.003
更新日期：2015-11-01 00:00:00
abstract：:Adrenal cysts are rare lesions which are usually nonfunctional and asymptomatic. Adrenal pseudocysts do not have epithelial linings and account for about 40% of adrenal cysts. We report a case of giant adrenal pseudocyst in a 32 year old woman presenting with flank pain who had undergone surgical excision. ...
journal_title：Archives of Iranian medicine
pub_type： 杂志文章
doi：0131612/AIM.0012
更新日期：2013-12-01 00:00:00
abstract：BACKGROUND:Postmenopausal bleeding is a clinically important complaint in general gynecologic practice. The incidence of spontaneous postmenopausal bleeding in the general population is approximately 10 % immediately after menopause, and 5 % in all menopausal women. OBJECTIVES:The study was aimed to reveal the histopa...
journal_title：Archives of Iranian medicine
pub_type： 杂志文章
doi：0131611/AIM.0011
更新日期：2013-11-01 00:00:00
abstract：BACKGROUND:Serotonin receptors such as 5-HT3 plays critical role in regulation of sleep, wake cycle and cognitive process. Thus, we investigated the role of CA1 5HT3 serotonin receptors in memory acquisition deficit induced by total sleep deprivation (TSD; for 24 hour) and REM sleep deprivation (RSD; for 24 hour). Pain...
journal_title：Archives of Iranian medicine
pub_type： 杂志文章
doi：0172009/AIM.006
更新日期：2017-09-01 00:00:00
abstract：INTRODUCTION:This research aims to determine the mental health status of population aged 15 and over in the province of Chaharmahal and Bakhtiari in 2015. METHODS:The statistical population of this cross-sectional field survey consisted of residents of urban and rural areas of Chaharmahal and Bakhtiari in Iran. An est...
journal_title：Archives of Iranian medicine
pub_type： 杂志文章
doi：
更新日期：2017-11-01 00:00:00
abstract：:Primitive neuroectodermal tumors (PNETs) are a family of highly malignant soft tissue neoplasms mostly occurring in children and young adults. PNETs usually develop in the thoracopulmonary region, abdomen, pelvis, and rarely in the head and neck region. Here, a case of PNET located in the parotid gland is reported. ...
journal_title：Archives of Iranian medicine
pub_type： 杂志文章
doi：0151812/AIM.0012
更新日期：2015-12-01 00:00:00
abstract：:Following the Islamic Revolution of 1979 in Iran, the trend of migration of physicians from the country continued. The total number of Iranian physicians migrated to the United States (US) increased from 1625 before revolution in 1974, to 5045 in 2010, thirty years post-revolution. The percentage of medical graduates ...
journal_title：Archives of Iranian medicine
pub_type： 杂志文章
doi：0131610/AIM.008
更新日期：2013-10-01 00:00:00
abstract：BACKGROUND:The probiotic microorganisms are live normal flora that provide nutritional benefits. When probiotic administered in adequate amounts, they also confer a health benefit on the host. Different mechanisms of probiotic effects include the following: stimulating the immune system, modifying the composition of no...
journal_title：Archives of Iranian medicine
pub_type： 杂志文章
doi：0151803/AIM.006
更新日期：2015-03-01 00:00:00
abstract：INTRODUCTION:Recent advances in pharmacy practice have created serious ethical challenges for the pharmacists. Pursuing a new philosophy of practice is required to overcome these challenges and optimize the standard of care. In this regard, the current ethics guideline in the Pharmacy curriculum used in Tehran Universi...
journal_title：Archives of Iranian medicine
pub_type： 杂志文章
doi：0172001/AIM.009
更新日期：2017-01-01 00:00:00
abstract：BACKGROUND:Estimating burden of disease, injuries and risk factors is crucial for health policy decision making. The Burden of Diseases (BoD) studies provide data about the magnitude and distribution of health problems among the population at national and sub-national levels. The BoD studies are designed to use seconda...
journal_title：Archives of Iranian medicine
pub_type： 杂志文章
doi：0141701/AIM.005
更新日期：2014-01-01 00:00:00
abstract：:Placental mesenchymal dysplasia is a rare condition of the placenta and its true incidence and underlying cause has remained unknown till now due to its rarity. Its accurate diagnosis is essential, because placental mesenchymal dysplasia is usually compatible with a good fetal and maternal outcome. A precise ultrasono...
journal_title：Archives of Iranian medicine
pub_type： 杂志文章
doi：013169/AIM.0013
更新日期：2013-09-01 00:00:00
abstract：:Many reported scientific misconducts included duplication, data fabrication and falsification; but recent fake peer reviews have become strange news for many researchers worldwide. Using gmail and other non-academic emails to correspond with journals should be highly prohibited. Indeed, the dark part of this story is ...
journal_title：Archives of Iranian medicine
pub_type： 杂志文章
doi：
更新日期：2018-08-01 00:00:00
abstract：:The primary goal of therapy in patients with chronic hepatitis B is suppression and long-lasting maintenance of hepatitis B virus DNA to its lowest possible level. The threshold of hepatitis B virus DNA level for therapy is > or = 10(5) copies/mL for HBeAg-positive patients and > or = 10(4) for those with HBeAg-negati...
journal_title：Archives of Iranian medicine
pub_type： 杂志文章,评审
doi：
更新日期：2006-01-01 00:00:00
abstract：BACKGROUND:Hepatitis delta virus is a unique human pathogen responsible for some 20 million infections globally. This virus is dependent on hepatitis B virus for transmission and propagation. Currently, at least three genotypes of hepatitis delta virus with different geographic distribution and clinical manifestations ...
journal_title：Archives of Iranian medicine
pub_type： 杂志文章
doi：
更新日期：2009-05-01 00:00:00
abstract：:The coronavirus infection is an evolving pandemic with high morbidity and mortality, especially in people with comorbidities. The case fatality rate (CFR) is 9.2% in the presence of diabetes, while it is 1.4% in those without any comorbidity. Diabetes is a prevalent disease globally; hence, healthcare professionals ar...
journal_title：Archives of Iranian medicine
pub_type： 杂志文章
doi：10.34172/aim.2020.61
更新日期：2020-08-01 00:00:00
abstract：:Esophageal cancer (EC) is the 8th most common cancer and the 6th most frequent cause of cancer mortality worldwide. Esophageal squamous cell carcinoma (ESCC) is the most common type of EC. Exposure to polycyclic aromatic hydrocarbons (PAHs) has been suggested as a risk factor for developing ESCC. In this paper we will...
journal_title：Archives of Iranian medicine
pub_type： 杂志文章,评审
doi：0121511/AIM.0013
更新日期：2012-11-01 00:00:00
abstract：:Effective prevention and early diagnostic strategies are the most important public health interventions in gastric cancer, which remains a common malignancy worldwide. Preventive strategies require identification and understanding of environmental risk factors that lead to carcinogenesis. Helicobacter pylori (H. pylor...
journal_title：Archives of Iranian medicine
pub_type： 杂志文章,评审
doi：013166/AIM.0010
更新日期：2013-06-01 00:00:00
abstract：:Despite all the problems caused by the imposed war, sanctions and accidents after the Islamic Revolution, materializing primary health care (PHC) in Iran through establishing the National Health Network (NHN) has had substantial gains. Many health indicators in Iran have undergone significant changes. As an example, t...
journal_title：Archives of Iranian medicine
pub_type： 杂志文章,评审
doi：
更新日期：2019-05-01 00:00:00
abstract：:Gastritis cystica profunda (GCP) is a rare condition characterized by polypoid cystic ectasia of the submucosal layer with cystic dilatation of the glandular structures of the stomach. The probable pathogenesis refers to degradation of the integrity of the muscularis mucosa and migration of epithelial cells to the sub...
journal_title：Archives of Iranian medicine
pub_type： 杂志文章
doi：
更新日期：2018-12-01 00:00:00
abstract：BACKGROUND:Breast cancer is the leading cause of carcinoma death in women. Proper treatment depends on the consideration of molecular biology status of tumor cells, which may determine the patient's treatment and prognosis. To determine the prognostic models for this disease, we evaluated the role of cell proliferation...
journal_title：Archives of Iranian medicine
pub_type： 杂志文章,多中心研究
doi：07101/AIM.008
更新日期：2007-01-01 00:00:00
abstract：BACKGROUND:The Fas/Fas ligand (FasL) system has been recognized as an important pathway for apoptosis induction in cells and tissues. It has recently been shown that skin lesions of pemphigus vulgaris are associated with Fas mediated apoptosis. The aim of this study was to evaluate the level of serum soluble Fas of ten...
journal_title：Archives of Iranian medicine
pub_type： 杂志文章
doi：011143/AIM.0011
更新日期：2011-05-01 00:00:00
abstract：BACKGROUND:Chorionic Villous Sampling (CVS) is a diagnostic method for determining genetic disorders. The present study aimed to determine the negative predictive value of the CVS in the diagnosis of major thalassemia in genetic laboratory of Dastgheib Hospital, Shiraz, Iran. METHODS:The present research was an evalua...
journal_title：Archives of Iranian medicine
pub_type： 杂志文章
doi：0141707/AIM.007
更新日期：2014-07-01 00:00:00
