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1.
IRCMJ-Iranian Red Crescent Medical Journal. 2012; 14 (2): 79-85
in English | IMEMR | ID: emr-178364

ABSTRACT

Intellectual disability [ID] has a worldwide prevalence of 1-3% and results from extraordinary heterogeneous. To shed more light on the causes of ID in Kerman Province, in Southeast Iran, we set out in 2008 to perform systematic clinical studies and homozygosity mapping in large Iranian families with ID. Fifty seven families with a minimum of two mentally retarded children from Kerman Province were initially tested for metabolic disorders, by Tandem mass spectrometry. Fragile X testing and standard karyotyping were performed for all probands of families. Cases with autosomal recessive [AR] pattern of inheritance and microcephaly were subjected to homozygosity mapping by using several microsatellite markers for known MCPH loci. Three out of seven families with X-linked pattern of inheritance were positive for fragile X syndrome. Chromosome abnormality was not observed in any of dysmorphic patients and all families were negative for metabolic tests. Among the remaining 50 families of AR ID, six were found to be microcephalic, of which 2 linked to two MCPH loci [33.3%]. The rest 4 families were not linked to any of the known loci. The results of this study showed that ID with microcephaly comprised 12% of ID cases in Kerman Province. In two families with apparent linkage to the MCPH5 and MCPH6 locus, mutation screening was not successful, which might indicate that either the mutation is located in the regulatory sequences of the gene or that there might be another genes present in these regions, which is mutated in such cases


Subject(s)
Humans , Female , Male , Intellectual Disability/etiology , Microcephaly , Intellectual Disability/epidemiology
2.
International Journal of Environmental Science and Technology. 2008; 5 (4): 455-462
in English | IMEMR | ID: emr-86946

ABSTRACT

Irregular patterns of precipitations from temporal as well as spatial perspectives not only cause destructions but also waste surface water resources. Hence, controlling surface water and leading the flood to underground stores improve the efficiency of water usage. Selecting appropriate sites for optimal use of water floods is one of the most important factors in recharging underground water tables in dry lands where the agricultural and rangelands are vulnerable. Traditional methods of site selections are, however, time consuming and error prone. This paper attempts to; analyze existing schemes of site selection; introduces an appropriate method of locating flood-spreading sites using Geospatial Information System; implements the strategy in a case study; and scientifically assesses its results. The study area of this research is Samal sub-basin covering 31571.7 ha of Ahrom basin in Boushehr province. In the present research, factors pertain to earth sciences [quaternary units, slope and landuse] and hydrology [runoff infiltration rate and aquifers' depth] are considered. Information layers are weighted, classified and integrated through several models such as boolean logics, index overlay and fuzzy logics. The results are then checked against the existing sites to estimate their accuracy. The results of this research demonstrated that fuzzy logic operators including gamma=0.1, gamma=0.2 and products of fuzzy logics yield the best when compared to control fields and therefore, the models are introduced as the most suitable site selection strategies for flood spreading


Subject(s)
Fuzzy Logic , Water , Maps as Topic
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