Novel Missense Mutation at Codon 2774 (C.8321 G>A) p.S2774N of APC Gene in a Denovo Case of Familial Adenomatous Polyposis.

Abstract:

:Familial adenomatous polyposis (FAP) is an autosomal dominant inherited disease caused by germline mutation in Adenomatous Polyposis Coli (APC) gene. FAP accounts less than 1% of all colorectal cancers incidence. Patients generally present hundreds to thousands of adenomas in colon and rectum and develop colorectal cancer by age 35 - 40 if left untreated. A milder form of FAP with fewer numbers of polyps (< 100) is Attenuated FAP (AFAP) and in comparison with classical FAP, it usually diagnosed at an older age. Approximately 15% - 20% of FAP patients are ''de novo'' cases without any family history of the disease and novel APC mutations account for approximately 25% of FAP cases. In our study, we reported a novel missense mutation at the APC gene in a denovo patient with AFAP like phenotype.

journal_name

Arch Iran Med

authors

Kashfi SM,Golmohammadi M,Behboudi Farahbakhsh F,Nazemalhosseini Mojarad E,Azimzadeh P,Norouzinia M,Montazer Haghighi M,Akbari Z,Damavand B,Molaei M,Anaraki F,Asadzadeh Aghdaei H,Zali MR

doi

0151807/AIM.0010

subject

Has Abstract

pub_date

2015-07-01 00:00:00

pages

446-9

issue

7

eissn

1029-2977

issn

1735-3947

pii

0010

journal_volume

18

pub_type

杂志文章
  • Child and Adolescent Mental Health Care in Iran: Current Status and Future Directions.

    abstract:BACKGROUND:The need for mental health care among children and adolescents in Iran, as in other low and middle income countries (LAMIC) remains mostly unmet. In this paper, we sought to provide an overview of the extent of unmet need and mental health services in Iran. We also aimed to propose approaches to address this...

    journal_title:Archives of Iranian medicine

    pub_type: 杂志文章

    doi:0161911/AIM.0010

    authors: Sharifi V,Mojtabai R,Shahrivar Z,Alaghband-Rad J,Zarafshan H,Wissow L

    更新日期:2016-11-01 00:00:00

  • A case-control study on potato consumption and risk of stroke in central Iran.

    abstract:UNLABELLED:  BACKGROUND:Potato, a high- glycemic index (GI) food, is one of the most widely used starchy foods worldwide. Previous studies on the association of dietary intakes with stroke have mostly focused on the dietary GI and there is no information regarding the association between potato consumption and risk of...

    journal_title:Archives of Iranian medicine

    pub_type: 杂志文章

    doi:013163/AIM.009

    authors: Khosravi-Boroujeni H,Saadatnia M,Shakeri F,Keshteli AH,Esmaillzadeh A

    更新日期:2013-03-01 00:00:00

  • Migrants' Health in Iran from the Perspective of Social Justice: a Systematic Literature Review.

    abstract::This paper presents a systematic literature review of studies that shed light on the health of migrants in Iran from the perspective of social justice. A systematic search was conducted in PubMed and Iranian databases, including IranMedex, Magiran, and SID, in June 2012. All studies that were published until June 2012...

    journal_title:Archives of Iranian medicine

    pub_type: 杂志文章,评审

    doi:0161910/AIM.0012

    authors: Shamsi Gooshki E,Rezaei R,Wild V

    更新日期:2016-10-01 00:00:00

  • Role of HER-2 Ile655Val Polymorphism as Universal Cancer Susceptibility Marker among Different Cancers.

    abstract:BACKGROUND:Genetic and expression anomaly of HER-2 have been frequently observed in different cancers. However, an overall association of HER-2 polymorphism (Ile655Val) with available cancer studies has not yet been explored. In the present study, a probable correlation of HER-2 Ile655Val polymorphism with 6 major type...

    journal_title:Archives of Iranian medicine

    pub_type: 杂志文章,meta分析,评审

    doi:0161906/AIM.0011

    authors: Riaz SK,Rashid MM,Kayani MA,Arshad Malik MF

    更新日期:2016-06-01 00:00:00

  • Expression and Immunogenicity of VP40 Protein of ZEBOV.

    abstract:BACKGROUND:EBOV outbreaks continue to threaten the world due to the absence of effective vaccines and therapeutics. Easy-to-use and rapid diagnostic tests for EBOV are highly desired for prevention and control of the EVD epidemic. METHODS:Escherichia coli expression system was used to express VP40 protein of Zaire Ebo...

    journal_title:Archives of Iranian medicine

    pub_type: 杂志文章

    doi:0172004/AIM.0011

    authors: Wang Y,Liu X,Tao L,Xu P,Gao X,Li H,Yang Z,Wu W

    更新日期:2017-04-01 00:00:00

  • Common HBV genotype in southeastern Iranian patients.

    abstract::Asymptomatic hepatitis B infection is characterized as a type of hepatitis in which hepatitis B surface antigen is present in the patient's peripheral blood despite the absence of clinical symptoms. Previous studies have shown that a particular genotype may effect clinical manifestations of hepatitis B infection; henc...

    journal_title:Archives of Iranian medicine

    pub_type: 杂志文章

    doi:

    authors: Eftekhari Y,Kazemi Arababadi M,Hakimi H,Rezazadeh Zarandi E

    更新日期:2010-03-01 00:00:00

  • Family physician program in Iran: considerations for adapting the policy in urban settings.

    abstract::Nationwide implementation of Family Physician (FP) program started in 2005 and targeted almost 25,000,000 citizens residing in rural areas and cities with less than 20,000 populations in Iran. Despite its blatant initiation that resulted in some modest achievements, the future of FP looks unclear in Iran. Thus far, no...

    journal_title:Archives of Iranian medicine

    pub_type: 杂志文章

    doi:0141711/AIM.0012

    authors: Khayatzadeh-Mahani A,Takian A

    更新日期:2014-11-01 00:00:00

  • Secular Trends of Global Burden of Violence, 1990-2015: In Spite of Successes, Women and Children Are Highly Affected in Low- and the Middle-Income Countries.

    abstract:BACKGROUND:Violence is a challenging modern epidemic worldwide. Less evidence is available on the populations most affected by violence in recent decades. The aim of the study was to ecologically investigate temporal trends of the global burden of violence according to gender, age group, and socio-demographic developme...

    journal_title:Archives of Iranian medicine

    pub_type: 杂志文章

    doi:10.34172/aim.2020.s1

    authors: Salehi A,Molavi Vardanjani H

    更新日期:2020-04-01 00:00:00

  • Global and regional left ventricular function improvement following successful percutaneous coronary intervention in patients with ischemic left ventricular dysfunction.

    abstract::This study assessed changes in global and regional systolic left ventricular function after successful percutaneous recanalization of coronary artery occlusions. A consecutive series of 110 patients with mean+/-SD age of 53.6+/-9.1 years, in whom a complete angiographic evaluation was available before angioplasty, und...

    journal_title:Archives of Iranian medicine

    pub_type: 杂志文章

    doi:07103/AIM.0020

    authors: Momtahen M,Abdi S,Ojaghi Z,Javady-nejad Z,Momtahen S,Sadreddin-Kazzazi A

    更新日期:2007-07-01 00:00:00

  • Radiologic findings in seven patients with fibrodysplasia ossificans progressiva.

    abstract::Fibrodysplasia ossificans progressiva is a rare and disabling syndrome, which is characterized by heterotopic ossifications and skeletal deformities. So far, around 200 patients with fibrodysplasia ossificans progressiva have been reported in the world literature. Herein, we analyze the clinical records of 7 known cas...

    journal_title:Archives of Iranian medicine

    pub_type: 杂志文章,多中心研究

    doi:07101/AIM.0018

    authors: Janati J,Aghighi Y,Tofighi A,Akhavan A,Behrouzan O

    更新日期:2007-01-01 00:00:00

  • Value of Pregnancy-Associated Plasma Protein-A for Predicting Adverse Pregnancy Outcome.

    abstract:BACKGROUND:It is suggested that pregnancy-associated plasma protein-A (PAPP-A) levels below the fifth percentile or less than 0.4 multiples of the median (MoMs) during the first trimester are closely associated with higher risk for neonatal abnormalities. We assessed the value of PAPP-A within the first trimester for p...

    journal_title:Archives of Iranian medicine

    pub_type: 杂志文章

    doi:

    authors: Mohamad Jafari R,Masihi S,Barati M,Maraghi E,Sheibani S,Sheikhvatan M

    更新日期:2019-10-01 00:00:00

  • Five-Year Efficacy of Transobturator Tape Treatment and Quality of Life in Women with Stress Urinary Incontinence.

    abstract:BACKGROUND:We aimed to assess the results of first- and fifth-year outcomes and the effect on quality of life (QoL) of transobturator tape (TOT) treatment in patients with stress urinary incontinence (SUI). METHODS:The patients who underwent TOT surgery between January 2008 and June 2013 were screened retrospectively....

    journal_title:Archives of Iranian medicine

    pub_type: 杂志文章

    doi:10.34172/aim.2020.110

    authors: Sahin MO,Sen V,Irer B,Yildiz G

    更新日期:2020-12-01 00:00:00

  • Endoscopic screening for precancerous lesions of the esophagus in a high risk area in Northern Iran.

    abstract:BACKGROUND:Esophageal squamous cell carcinoma (ESCC) is a major health problem in many developing countries including Iran. ESCC has a very poor prognosis, largely due to late diagnosis. As a first step in developing an early detection and treatment program, we conducted a population-based endoscopic screening for ESCC...

    journal_title:Archives of Iranian medicine

    pub_type: 杂志文章

    doi:014174/AIM.006

    authors: Roshandel G,Khoshnia M,Sotoudeh M,Merat S,Etemadi A,Nickmanesh A,Norouzi A,Pourshams A,Poustchi H,Semnani S,Ghasemi-Kebria F,Noorbakhsh R,Abnet C,Dawsey SM,Malekzadeh R

    更新日期:2014-04-01 00:00:00

  • Evaluation of current guthrie TSH cut-off point in Iran congenital hypothyroidism screening program: a cost-effectiveness analysis.

    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

    authors: Shamshiri AR,Yarahmadi S,Forouzanfar MH,Haghdoost AA,Hamzehloo G,Holakouie Naieni K

    更新日期:2012-03-01 00:00:00

  • Protein Clustering and Interactome Analysis in Parkinson and Alzheimer's Diseases.

    abstract:BACKGROUND:Alzheimer and Parkinson diseases (AD and PD) are the two most important neurodegenerative disorders. This paper aims to determine the possible molecular linkage between these two common neurodegenerative diseases by a combination of computational investigations. METHODS:According to our aim, common sets of ...

    journal_title:Archives of Iranian medicine

    pub_type: 杂志文章

    doi:0161902/AIM.007

    authors: Rezaei-Tavirani M,Zamanian-Azodi M,Rajabi S,Masoudi-Nejad A,Rostami-Nejad M,Rahmatirad S

    更新日期:2016-02-01 00:00:00

  • White rice consumption is a risk factor for metabolic syndrome in Tehrani adults: a prospective approach in Tehran Lipid and Glucose Study.

    abstract:BACKGROUND:Consumption of white rice has been proposed as a dietary risk factor for development of metabolic disorders and type 2 diabetes, especially in populations who consume white rice as a staple food. In this study, we investigated the association between consumption of white rice and the occurrence of metabolic ...

    journal_title:Archives of Iranian medicine

    pub_type: 杂志文章

    doi:014176/AIM.0011

    authors: Bahadoran Z,Mirmiran P,Delshad H,Azizi F

    更新日期:2014-06-01 00:00:00

  • Primary glomus tumor of the liver.

    abstract::Primary glomus tumors are extremely rare in the liver. To this date, only two cases of primary glomus tumors of the liver have been reported in the literature. This report is the third case of this specified tumor. The patient was a 50 year-old Iranian woman who presented with a history of epigastric pain and nausea. ...

    journal_title:Archives of Iranian medicine

    pub_type: 杂志文章

    doi:0011144/AIM.0015

    authors: Amoueian S,Meibodi NT,Tavoosi H,Ekramifard VR,Attaranzadeh A,Montazer M

    更新日期:2011-07-01 00:00:00

  • A qualitative evaluation of men living with HIV: views on condom use.

    abstract:BACKGROUND:Unprotected sexual activity is an important reason for the currently growing incidence of HIV infection in Iran. Recognizing barriers to safe sexual practice and affordance of behavioral changes can improve planning for condom promotion. The main objective of our study is to evaluate the opinions of HIV-posi...

    journal_title:Archives of Iranian medicine

    pub_type: 杂志文章

    doi:0121512/AIM.0010

    authors: Fallahi H,Tavafian SS,Yaghmaie F,Hajizadeh E,Rastegarpour A,Fouroghi M

    更新日期:2012-12-01 00:00:00

  • A Survey on Mental Health Status of Adult Population Aged 15 and above in the Province of Razavi Khorasan, Iran.

    abstract:INTRODUCTION:This research aims to determine the mental health status of population aged 15 and over in the province of Razavi Khorasan in 2015. METHODS:The statistical population of this cross-sectional field survey consisted of residents of urban and rural areas of Razavi Khorasan in Iran. An estimated sample size o...

    journal_title:Archives of Iranian medicine

    pub_type: 杂志文章

    doi:

    authors: Noorbala AA,Bagheri Yazdi SA,Faghihzadeh S,Kamali K,Faghihzadeh E,Hajebi A,Akhondzadeh S,Ghazizadeh Hashemi F,Okhravi N

    更新日期:2017-11-01 00:00:00

  • Antifungal susceptibility of the aspergillus species by Etest and CLSI reference methods.

    abstract:BACKGROUND:Because resistance to antifungal drugs is seen in patients, susceptibility testing of these drugs aids in choosing the appropriate drug and respective epidemiology. This study has investigated and compared susceptibility patterns of the Aspergillus species isolated from patients by the Clinical and Laborator...

    journal_title:Archives of Iranian medicine

    pub_type: 杂志文章

    doi:012157/AIM.0011

    authors: Badiee P,Alborzi A,Moeini M,Haddadi P,Farshad S,Japoni A,Ziyaeyan M

    更新日期:2012-07-01 00:00:00

  • Giant adrenal pseudocyst.

    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

    authors: Soroush A,Anbara T,Lashkari M,Mir A

    更新日期:2013-12-01 00:00:00

  • The Editor and the Author at Fault: A Lesson From Recent Retractions.

    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:

    authors: Talebi Bezmin Abadi A

    更新日期:2018-08-01 00:00:00

  • Levels and trends of child and adult mortality rates in the Islamic Republic of Iran, 1990-2013; protocol of the NASBOD study.

    abstract:BACKGROUND:Calculation of burden of diseases and risk factors is crucial to set priorities in the health care systems. Nevertheless, the reliable measurement of mortality rates is the main barrier to reach this goal. Unfortunately, in many developing countries the vital registration system (VRS) is either defective or ...

    journal_title:Archives of Iranian medicine

    pub_type: 杂志文章

    doi:0141703/AIM.007

    authors: Mohammadi Y,Parsaeian M,Farzadfar F,Kasaeian A,Mehdipour P,Sheidaei A,Mansouri A,Saeedi Moghaddam S,Djalalinia S,Mahmoudi M,Khosravi A,Yazdani K

    更新日期:2014-03-01 00:00:00

  • The historical backgrounds of the ministry of health foundation in Iran.

    abstract::The early efforts for promotion of public health measures and prevention of fatal epidemic diseases in Iran date back to the second half of the 19th century. Based on historical records, the informal protosanitary councils had existed since the early 1850s, but a new formal health institution called "Sanitary Council"...

    journal_title:Archives of Iranian medicine

    pub_type: 历史文章,杂志文章

    doi:07101/AIM.0028

    authors: Azizi MH

    更新日期:2007-01-01 00:00:00

  • Environmental and lifestyle risk factors of gastric cancer.

    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

    authors: Lee YY,Derakhshan MH

    更新日期:2013-06-01 00:00:00

  • Diseases at the crossroads: chronic myelogenous leukemia and tuberculosis.

    abstract::Chronic myelogenous leukemia (CML) and tuberculosis (TB) are diseases with effective available therapy. Treating patients who are afflicted simultaneously with both of these conditions is challenging due to significant drug interactions and the requirement of strict adherence to the multi-agent treatment regimen. Here...

    journal_title:Archives of Iranian medicine

    pub_type: 杂志文章

    doi:0151801/AIM.0015

    authors: Bhatnagar V,Adelakun A,Kendall T,Holtzman N,Farshidpour M,Stevenson B,Chen Q,Emadi A

    更新日期:2015-01-01 00:00:00

  • Socioeconomic Disparities in Dietary and Physical Activity Habits of Iranian Children and Adolescents: the CASPIAN-IV Study.

    abstract:BACKGROUND:This study aims to compare the dietary and physical activity (PA) habits in a nationally representative sample of Iranian children and adolescents based on their family and regional socioeconomic status (SES). METHOD:This nationwide study was conducted on 14,880 students, aged 6-18 years, and one of their p...

    journal_title:Archives of Iranian medicine

    pub_type: 杂志文章

    doi:0161908/AIM.003

    authors: Kelishadi R,Qorbani M,Motlagh ME,Ardalan G,Heshmat R,Hovsepian S

    更新日期:2016-08-01 00:00:00

  • The prevalence at birth of overt congenital anomalies in Urmia, Northwestern Iran.

    abstract:BACKGROUND:Congenital anomalies play a significant role in perinatal and infantile morbidity and mortality. There is a variation in the frequency of congenital anomalies in different populations. Determination of the prevalence of different types of congenital anomalies may help plan primary prevention measures for the...

    journal_title:Archives of Iranian medicine

    pub_type: 杂志文章

    doi:08112/AIM.005

    authors: Abdi-Rad I,Khoshkalam M,Farrokh-Islamlou HR

    更新日期:2008-03-01 00:00:00

  • The effectiveness of combined treatment with methylprednisolone and cyclophosphamide in oral paraquat poisoning.

    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

    authors: Afzali S,Gholyaf M

    更新日期:2008-07-01 00:00:00

  • Tryptophan Degradation and Antioxidant Status in Patients With Thyroid Disorders.

    abstract:BACKGROUND:The aim of this study was to evaluate the degradation of tryptophan (Trp), neopterin production and antioxidant capacity in patients with benign and malignant thyroid disease. METHODS:For this reason, the levels of tryptophan, kynurenine (Kyn) and neopterin, and superoxide dismutase (SOD) and catalase (CAT)...

    journal_title:Archives of Iranian medicine

    pub_type: 杂志文章

    doi:

    authors: Ünüvar S,Girgin G,Şahin TT,Kılıçarslan B,Taneri F,Yüksel O,Baydar T

    更新日期:2018-09-01 00:00:00