genetics
Farzaneh Khodabandeh; Reyhane Alishahi; Fatemeh Yahyavi Koochaksaraei
Volume 25, Issue 4 , September and October 2018, , Pages 518-527
Abstract
Background and Aim: Mucopolysaccharidosis type I (MPS I) is a rare and highly progressive autosomal recessive, genetically-metabolic disorder that results of the mutation in the gene responsible for the production of Alpha-L-Iduronidase enzyme, which ultimately leads to destruction and cell death of ...
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Background and Aim: Mucopolysaccharidosis type I (MPS I) is a rare and highly progressive autosomal recessive, genetically-metabolic disorder that results of the mutation in the gene responsible for the production of Alpha-L-Iduronidase enzyme, which ultimately leads to destruction and cell death of tissues. The patient is asymptomatic at the time of birth, but few months after birth, symptoms gradually appear in the person's phenotype. Respiratory, skeletal, neurological, cardiac, gastrointestinal and ocular disorders are obvious in these patients. The purpose of this study is reporting a case of MPS I.Patient introduction: The patient is a 7 years old boy, repeatedly admitted to the Heshmatieh Hospital of Sabzevar University of Medical Sciences, due to a weak immune system, high fever, and complications of his MPS genetic disease. At 2.5 years old, MPS had been definitively diagnosed.Conclusion: In this patient, almost all symptoms of the Hurler syndrome including third tonsil, hepatomegaly, splenomegaly, large skull, large tongue, ocular corneal opacity, and the presence of yellow spots in sclera, spinal deviation, Umbilical hernia, hearing loss and the stenosis of the mitral valve was seen. Unfortunately, due to the lack of definitive treatment, only 20% of the patients have a chance of survival and recovery. MPS usually leads in death before the age of 20.
Mojgan Mirghaforvand; Mahin Kamalifard; Sakineh Alizadeh Cherandabi; Mohammad Asghari Jafarabadi; Farzaneh Khodabandeh; Ameneh Mansouri
Volume 22, Issue 1 , March and April 2015, , Pages 169-179
Abstract
Background: Lack of awareness and the False beliefs about postpartum care may lead to maternal and child health problems. Thus, changing them through effective training methods should be considered as a priority. This survey was conducted to evaluate the effect of educational package on nulliparous mother’s ...
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Background: Lack of awareness and the False beliefs about postpartum care may lead to maternal and child health problems. Thus, changing them through effective training methods should be considered as a priority. This survey was conducted to evaluate the effect of educational package on nulliparous mother’s Knowledge and belief about postpartum lifestyle.
Materials and Methods: This randomized clinical trial was carried out on 220 nulliparous women in the postpartum ward in Tabriz, in 2013. The subjects were allocated into two groups using block randomization method. Intervention group received face to face education, telephone counseling, booklets and educational SMS and control group received postpartum Ward’s routine educations. Questionnaires of Knowledge and belief about postpartum lifestyle were completed by mothers at the first (or second) day after delivery and then 42 days later. Data was analyzed by SPSS-18, Independent t-test, Fisher's exact test, chi-square, chi-square for trends and ANCOVA. P0.05). With adjusting pre-intervention knowledge and belief score, the mean scores of knowledge [adjusted mean difference 17.2, (CI: 95%: 20.2 to 14.3)] (p