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Incidence of T3151 mutation in BCR/ABL-positive CML and ALL patients

Frontiers in Biology 2016年第5期11卷 404-411页

作者： fatemeh norozi Javad Mohammadi-asl Tina Vosoughi Mohammad Ali Jalali Far Areal Saki Malehi Najmaldin Saki Health Research Institute Thalassemia and Hemoglobinopathy Research Center Ahvaz Jundishapur University of Medical Sciences Ahvaz Iran Department of Medical Genetics Ahvaz Jundishapur University of Medical Sciences Ahvaz Iran

OBJECTIVES： Targeted therapy of Philadelphia-positive ALL and CML patients using imatinib （IM） has caused significant changes in treatment course and has increased the survival of patients. A small group of patients show resistance to IM. Acquired mutations in tyrosine kinase domain of BCR-ABL protein are a mechanism for development of resistance. T315I is one of the most common acquired mutations in this domain, which occurs in ATP binding site and inhibits the formation of hydrogen bond with IM. The aim of this study was to evaluate the prevalence of this mutation in BCR/ABL-positive CML and ALL patients. METHODS： To conduct this study, 60 BCR-ABL-positive patients （including 50 CML and 10 ALL patients） who were subject to treatment with IM were selected. After taking the samples, presence of T315I mutation was assessed using ARMS- PCR on cDNA and its polymorphism was evaluated by sequencing. RESULTS： The results showed that among 60 patients, only three patients had T315I mutation, which was detected using ARMS technique. The three patients bearing mutation were afflicted with CML and no significant association was found between blood parameters with duration of treatment in presence of mutation. CONCLUSIONS： The mutation was found in three CML patients, which indicated lower likelihood and diagnostic value of this mutation in ALL patients. Given the negative direct sequencing results in T3151 patients, it can be concluded that ARMS- PCR is a more sensitive technique when the number of cancer cells is low in patients during treatment.

关键词： BCR-ABL T315I mutation imatinib CML ALL

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MicroRNAs in erythropoiesis and red blood cell disorders

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Frontiers in Biology 2015年第4期10卷 321-332页

作者： Javad Mohammdai-asl Abolfazl Ramezani fatemeh norozi Amal Saki Malehi Ali Amin Asnafi Mohammad Ali Jalali Far Seyed Hadi Mousavi Najmaldin Saki Department of Medical Genetics Ahvaz Jundishapur University of Medical Sciences Ahvaz Iran Healthresearch Institute Research Center of Thalassemia & Hemoglobinopathy Ahvaz Jundishapur University of Medical Sciences Ahvaz Iran Department of Biostatistics and Epidemiology School of Public Health Ahvaz Jundishapur University of Medical Sciences Ahvaz Iran Hematology Department Allied Medical School Tehran University of Medical Sciences Tehran Iran

MicroRNAs （miRNAs） are 19-24 nucleotide non-coding ribonucleic acids binding DNA or RNA and controlling gene expression via mRNA degradation or its transcription inhibition. Erythropoies is a multi step differentiation process of erythroid progenitors to nucleate red blood cells. Maturation, proliferation and differentiation of red blood cells is affected by erythroid factors, signaling pathways in niche of hematopoietic cells, transcription factors as well as miRNAs. Expression of different types of miRNAs during erythroid development provides a background for the study of these molecules to control erythroid differentiation and maturation as well as their use as diagnostic and prognostic markers to treat erythroid disorders like thalassemia, sickle cell disease and erythrocyte enzyme deficiencies. In this paper, with reference to biosynthesis of miRNAs, their function in normal and anemic erythropoiesis has been investigated. The target molecule of each of these miRNAs has been cited in an attempt to elucidate their role in erythropoiesis.

关键词： miRNA erythropoiesis red blood cell

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Having a Partner and Having Children:Comparisons of Adults with Congenital Heart Disease and the General Population:A 15-Year Case-Control Study

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Congenital Heart Disease 2023年第3期18卷 337-348页

作者： Siegfried Geyer Claudia Dellas Thomas Paul Matthias Müller Kambiz norozi Medical Sociology Unit Hannover Medical SchoolHannover30625Germany Department of Pediatric Cardiology Intensive Care Medicine and NeonatologyUniversity Medical Center GoettingenGoettingenGermany Department of Pediatrics Western UniversityLondonOntarioCanada Department of Pediatric Cardiology and Intensive Care Medicine Hannover Medical SchoolHannoverGermany

Objectives:To examine whether patients with congenital heart disease(CHD)are less likely to have a partner or children than individuals from the general ***:Longitudinal study with two assessments of the same patients(n=244)from a hospital population and controls(n=238)from the German Socio-Economic Panel(GSOEP)using parental education,patients age,and sex as matching *** first patient study was conducted between 5/2003 and 6/2004,the second one between 5/2017 and 4/*** were drawn from GSOEP-surveys 2004 and ***-severity was classified according to type of surgery:curative,reparative,or *** single was used as outcome measure,for offspring the outcome was having children or ***:Among women with CHD the rate of those living single was higher than among controls with the differences depending on disease complexity(curative:OR=5.5;reparative:OR=1.9;palliative:OR=2.7).No statistically significant differences between patients and controls emerged in the male study *** respect to children a marked difference emerged between women with CHD and *** patients the odds of having children were lower than among controls(curative:OR=0.3;reparative:OR=0.3;palliative:OR=0.2).The rate of patients with children with CHD(women:5.6%;men:4.9%)was higher than expected(1%)if compared with the general ***:Using partnership and children as outcome criteria,patients with CHD are disadvantaged if compared to subjects from the general *** female patients the social consequences of the disease turned out as more pervasive than in women.

关键词： Congenital heart disease children partnership panel study case-control study

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先天性心脏缺损修补术后患儿的心肺功能状态

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世界核心医学期刊文摘（儿科学分册） 2006年第4期2卷 26-27页

作者： norozi K. Gravenhorst V. Hobbiebrunken E. Wessel A. 贺莉 Department of Pediatric Cardiology and Intensive Care Medicine Medical School Hannover OE 6730 Carl-Neuberg-Str 1 30623 Hannover GermanyDr

Background: One of the main goals of corrective surgery of congenital heart defects in children is the improvement of quality of life, which in young children is predominantly determined by exercise capacity. It is not known whether this goal can be achieved in school-aged children who have undergone cardiac surgery in infancy. Objectives: To determine if primary schoolaged children who underwent surgery to correct congenital heart defects in infancy are physically as fit as their peers. Methods: We examined 84 children with congenital heart defects, aged 4 to 11 years, after surgical repair. Fifty-two children had simple defects (ie, atrial or ventricular septal defect, coarctation of the aorta). Thirty two children had complex defects (ie, tetralogy of Fallot, pulmonary atresia with ventricular septal defect). All patients underwent exercise testing performed on a specially modified bicycle ergometer. Ninety-eight sex- and age-matched healthy children served as the control group. Results: There was no gender difference, either in healthy children or in the group with congenital heart defects, regarding exercise testing and that the healthy children reached a mean ± SD normalized maximal performance of 2.8 ± 0.3 W/kg. The same range was found for the children who had undergone surgery to correct simple heart defects. The children operated on to correct complex heart defects showed significantly impaired mean normalized maximal performance, although this tended to be lower in the group that had pulmonary atresia with a ventricular septal defect than in the group with tetralogy of Fallot (mean normalized maximal performance, 1.9 W/kg vs 2.3 W/kg). Conclusions: The goal of normal exercise capacity in childhood after heart surgery is achieved in those with simple heart defects only. In children with complex heart defects impaired exercise performance persists, depending on the severity of the heart defect and probably on chronotropic incompetence.

关键词：先天性心脏缺损法洛四联症心脏手术复合性主动脉狭窄修补手术同龄儿童房间隔肺动脉闭锁生

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