[Genotype-phenotype correlation in patients with spinal atrophy in east Azerbaijan]

The neuromuscular degenerative disorder, known as spinal muscular atrophy [SMA], is a common fatal disease in neonates. In most patients with SMA, exon 7 and/or exon 8 of SMN1 gene is deleted. It is reported that the deletion of exon 5 from NAIP gene may be involved in the severity of SMA disease. The present study was aimed to evaluate the genotype- phenotype correlation of SMN1 and NAIP genes in SMA patients of East Azerbaijan. We analyzed SMN1 and NAIP genes in SMA patients referred from East Azerbaijan province using molecular methods. The genome of SMA patients, diagnosed by neurologists, was analyzed for exons 7 and 8 of SMN1 gene and exon 5 of NAIP gene using PCR-RFLP and Multiplex-PCR techniques, respectively. Homozygous deletions of SMN1 were detected in 90% of SMA Patients. Exon 5 from the NAIP gene was deleted in 54.5% of patients and its deletion was more frequent in SMA type I [75%] as compared to type II [18%] and type III [7%]. The results further support that the analysis of the SMN1 gene may be used for confirming clinical manifestations of SMA, while the analysis of NAIP gene can be used to determine the severity of the disease

[Antiepileptic drugs effect on vitamin D status of epileptic children]

As epilepsy and seizure disorders are common in children, antiepileptic drugs are used more commonly in this age group than in adults. This study was carried out in order to determine the vitamin D and calcium status of children receiving antiepileptic drugs and evaluation of effects of these drugs on vitamin D and calcium metabolism. Sixty epileptic children and adolescents visiting Children's Neurology Clinic who were taking antiepileptic drugs and had inclusion criterions were selected as simple sampling from July 2005 to June 2006. Thirty age and sex matched normal children and adolescents were considered as control group. Serum levels of 25OHD3, calcium and alkaline phosphatase is compared between groups. Serum levels of 25OHD3 [P<0.001], calcium [P<0.001] and alkaline phosphatase [P<0.001] were significantly different between groups. Ten percent of patients had serum 25OHD3 level below lower normal limit. There was a reverse correlation between duration of drug therapy and serum level of 25OHD3 [r=-0.345, P=0.011]. Antiepileptic drug treatment in children results in reducing serum 25OHD3 and calcium levels and increases bone turnover. With longer duration of treatment serum 25OHD3 level decreases more

[Detection of suspected duchenne muscular dystrophy carriers by microsatellite markers application]

Duchenne Muscular Dystrophy[DMD] is a neuromuscular disorder with progressive muscle wasting and weakness. This disease is the consequence of mutations in dystrophin gene located on X chromosome. Inheritance pattern of the disease is gene-dependent recessive with an incidence of one in 3500 alive male newborns. Due to the absence of efficient treatment, detection of female carriers is essential for genetic counselling and prenatal diagnosis. 14 DMD families were referred to the genetic laboratory by specialists. DNA was extracted from the whole peripheral blood and analyzed by gene tracking technique. All members of the families were studied through 7 microsatellites located in and around dystrophin gene. 37 females at the risk of being DMD carriers and 7 obligate carriers were studied and ultimately 27 females [72.97%] were identified as carriers or non-carriers. In the families who were diagnosed as DMD patients by clinical and preclinical procedure's gene tracking is a reliable and less expensive technique for female carrier-status identification with a 95-100% confidence

Comparison of Different Omega-3 Fatty Acid Sources for Enrichment of Egg

To compare different omega-3 fatty acid sources for enrichment of egg from economical and qualitative aspects.Compeletely Randomized Design. One hundred and eighty Single Comb White Leghorn laying hens, 24 weeks old. Ten groups of 18 hens [6 hens/cage] were randomly assigned to each of ten dietary treatments and in compeletely randomized design, were fed diets containing 2.5 ko[3]/41, 5 ko[3]/41 and 7.5 ko[3]/41 flax seed, canola seed and fish meal or a wheat- soybean control diet, for 12 weeks. At the end of this period, percentage of linolenic acid [n-3], linoleic acid [n-6], oleic acid [n-9] and some of saturated fatty acids were determined. Statistical Analysis: Analysis of variance of data were performed by SAS software and comparison of the means were done by Duncan's multiple range test. There were significant difference among groups on linolenic acid, linoleic acid percentage and ratio of linoleic acid [n-6] to linolenic acid [n-3][P<0.05]. The greatest value for linolenic acid was in the group given 7.5 ko[3]/41 flax seed. During this period, there were no significant differences [P>0.05] among treatments on egg production, egg weights, daily feed intake, feed conversion, and quality of eggs [P>0.05]. With note to increasing in linolenic acid amount of egg yolks in the group given 7.5 ko[3]/41 canola seed and because of low cost and abundance of canola seed in Iran, and not to be influenced of performance of laying hens and quality of eggs, 7.5ko[3]/41 canola seed could be recommended