extract when a woman undergoes genetic testing of her fetus, the physiologic and emotional demands are great. careful nursing assessment and support are vital. the main benefit of prenatal genetic diagnosis is that women be given the opportunity to coping with your pregnancy where fetal abnormalities has been diagnosed or achieve  to a complete relaxation with  the positive results obtained . e...

background: familial hypertrophic cardiomyopathy (hcm) is caused by mutations in genes encoding cardiac sarcomere proteins. nowadays genetic testing of hcm plays an important role in clinical practice by contributing to the diagnosis, prognosis, and screening of high-risk individuals. the aim of this study was developing a reliable testing strategy for hcm based on linkage analysis and appropri...

how to cite this article: javadzadeh m. prenatal diagnosis and genetic counseling for niemann-pick c disease. iran j child neurol. 2015 autumn;9:4(suppl.1): 22.   pls see pdf.

abstract background: autosomal dominant polycystic kidney disease (adpkd) is an inherited disorder with genetic heterogeneity. up to three loci are involved in this disease, pkdi on chromosome 16p13.3, pkd2 on 4q21, and a third locus of unknown location. methods: here we report the first molecular genetic study of adpkd and the existence oflocus heterogeneity for adpkd in the iranian population...

in previous years, identification of fetal cells in maternal blood circulation has caused a new revolution in non-invasive method of prenatal diagnosis. low number of fetal cells in maternal blood and long-term survival after pregnancy limited the use of fetal cells in diagnostic and clinical applications. with the discovery of cell-free fetal dna (cffdna) in plasma of pregnant women, access to...

liver fibrosis is a potentially reversible response to hepatic insults, triggered by different chronic diseases most importantly viral hepatitis, alcoholic, and non-alcoholic fatty liver disease. in the course of the chronic liver disease, hepatic fibrogenesis may develop, which is attributed to various types of cells, molecules, and pathways. activated hepatic stellate cell (hsc), the primary ...

in this paper, the fuzzy system has been used for fault detection and diagnosis of a yeast fermentation bioreactor based on measurements corrupted by noise. in one case, parameters of membership functions are selected in a conventional manner. in another case, using certainty factors between normal and faulty conditions the optimal values of these parameters have been obtained through the genet...

since its first clinical application in early 90s, preimplantation genetic diagnosis (pgd) has became a powerful diagnostic procedure in clinical practice for avoiding the birth of an affected child as well as increasing the assisted reproductive technologies (art) outcome . the technique involves the screening of preimplantation embryos for chromosomal abnormalities in certain indications such...