Rare chromosome structural aberration characterizing oncology malignancy

Ring chromosome aberration are rare abnormality potentially involving any chromosome in patients diagnosing in Oncology. The present review and case study has focused on the ring chromosome associated with oncology malignancies. An electronic peer review article search was performed systematically to obtain relevant literature with the CINAHL, Google scholar, and Pub Med databases. The keywords included marker, abnormalities, structural, Ring chromosome. The inclusion criteria for the review were that the documents were original quantitative research and published in English. This was also initiated using Medline, Mitelman database [http:/cgap.nci.nih.gov/Chromosomes/Mitelman], Danish cytogenetic register and other pertinent web references on ring chromosomes in Oncology malignancies. Articles that were not directly relevant to the present objective were excluded. Also the un-stimulated bone marrow specimen of present case manipulated with Methotrexate cells culture synchronization and finally was treated by GTG-banding technique. Ring chromosome was observed in 10% of the total cells. Cytogenetic analysis demonstrated apparently ring [15] 46, XY, r[15] karyotype. The clinical findings revealed history of nausea, loss of appetite, diarrhea, night sweats, and a weight loss, anemia and diagnosed as accelerated CML. Our finding adds to the spectrum of both morphology and genetic rearrangements in oncology malignancies. Additional future analyses in similar subject will be necessary to draw firm conclusions

Investigation of genetic causes of intellectual disability in Kerman province, south east of Iran

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

Clinical and molecular aspects of Sjogren-Larsson syndrome reported in an iranian consanguineous family with triplet affected individuals

Sjogren Larsson Syndrome [SLS; OMIM: 270200] is an autosomal recessive neurocutaneous disorder characterized by mental retardation, congenital ichthyosis and spastic paraplegia. SLS is caused by mutations in aldehyde dehydrogenase 3A2 isoform 2 [ALDH3A2], which encodes fatty aldehyde dehydrogenase [FALDH]. This enzyme metabolizes the NAD-dependent oxidation of long chain aldehyde derived from lipid metabolism. Up to now, more than 72 mutations have been reported in SLS patients. DNA was extracted from peripheral blood of all the five patients, one healthy sibling and their parents using standard procedures. SNP genotyping was performed using the GeneChip [registered sign]. Multipoint linkage analyses and non-parametric linkage analysis was performed too. Results: Here, we report an interesting family with five affected individuals with a novel splice site mutation [c.1107+1delGTA] in ALDH3A2. In absence of capability to measure FALDH activity in Iran, DNA sequencing of the ALDH3A2 gene could lead to the identification of causative mutation and confirm the diagnosis

Comparison of ferrous ion chelating, free radical scavenging and anti tyrosinase properties of Thymus daenensis essential oil with commercial thyme oil and thymol

Utilization of plants as antioxidants in food processing has a potential for substitution of synthetic antioxidants. In the present work, some unexplored biological activities of Thymus daenensis, commercial thyme essential oils and thymol were comparatively studied. Ferrous ion chelating was assessed by spectrophotometry by mixing the essential oils with diluted FeSO[4] followed by addition of ferrozine. Antioxidative properties were assessed by beta carotene bleaching and 2,2-diphenyl-l-picrylhydrazyl [DPPH] free radical scavenging tests. Gallic acid equivalent of ferric reduction was carried out using FeCl[3]. Super oxide anion radical scavenging was determined using xanthine oxidase and anti tyrosinase inhibitory activity was determined by a spectrophotometry method using a modified dopachrome method with L-DOPA as the substrate. Chelating reaction of T. daenensis oil was dose dependent, and its super oxide anion radical scavenging property was higher than the commercial oil. Lipid peroxidation inhibition by T. daenensis oil was stronger and those of the commercial oil and thymol were approximately equal. DPPH free radical scavenging property of T. daenensis oil was higher than trolox, butylated hydroxytoluene and anisol [BHT and BHA]. Ferric-reducing antioxidant power [FRAP] of T. daenensis oil was greater. The total phenolics anti tyrosinase IC[50] were also determined. The results point to the nutritional value of these plants in preventing formation of toxic reactive oxygen species, and show that Thymus daenensis, as a good antioxidant, can directly scavenge free radicals. The results from biological properties of Thymus daenensis are indicative of its potentials for use in food and drug industries

Comparison between shear bond strength of composite resin following surface conditioning with Er Cr YSGG laser and acid etch on the enamel surface in primary canines

In recent years with the introduction of laser in dentistry, numerous researches have been conducted to evaluate its efficacy for improving resin material bond on the enamel and dentin. Based on the available literature, no research has been performed on resin shearing bond strength by preparing the tooth surface with YSGG laser on the enamel of the primary teeth. The present study seeks to determine and compare resin shearing bond strength between two groups of surface preparation with acid etch and laser. Twenty primary canine teeth which were extracted for orthodontic purposes were collected and were halved with a diamond disc. Each of the halves was mounted in transparent acrylic resin. The teeth were then randomly divided into two groups; in group 1, surface preparation was done with YSGG laser and in group 2, the teeth were prepared with acid etching. Next, the composite was put on the tooth surface by a plastic matrix and cured. The shearing bond strength was measured with instron. The collected data were analyzed using Student's t-test and Kolmogorov-Smirnov statistical methods. The average bond strength was 27.87 +/- 6.136 mpa in the laser group [group 1] and 21.55 +/- 5.62 mpa in the acid etch group [group 2] demonstrating a statistically significant difference between the two groups [p<0/05]. It may be concluded that resin bond strength is significantly higher in group 1 [YSGG group] compared with Group 2 [acid etch group]