Association Study between DUF1220 Copy Number and Severity of Social Impairment in Sex-balanced Simplex Cases of Autism.

Introduction: Copy number variations (CNVs), which are genetic factors responsible for human evolution, have emerged as underlying pathogenic factors for a number of diseases such as autism spectrum disorders (ASD). DUF1220 coding sequences have been shown to be positively associated with the severity of symptoms in familial/multiplex cases of autism. However, this association has not been confirmed in simplex autism, and the potential impact of gender/sex has not been studied. Methods: Using saliva samples taken from Iranian children with non-syndromic simplex autism, different ethnicity/race and genetic backgrounds from previous studies, we assessed the association between DUF1220 CNVs and Autism Diagnostic Interview-Revised (ADI-R) domain scores in both males and females. Results: In the male and female combined group with autism, in line with previous reports, our findings showed that there were no significant associations between DUF1220 CNVs with either total ADI-R score, social, communication, or repetitive diagnostic scores in simplex autism cases. Interestingly, however, in sex classified groups, despite the insignificant results, our findings in girls with autism showed a negative trend between DUF1220 CNVs and severity of symptoms for the social interaction and communication domains. By contrast, in male children with autism, the results showed a positive trend. Conclusion: It seems that association of DUF1220 CNV with the severity of symptoms in simplex children with autism may follow a sexually dimorphic pattern that needs to be re-examined in prospective studies.

Sexual Dimorphism in Telomere Length in Childhood Autism.

Autism spectrum disorders (ASD) are strikingly more prevalent in males, but the molecular mechanisms responsible for ASD sex-differential risk are poorly understood. Abnormally shorter telomeres have been associated with autism. Examination of relative telomere lengths (RTL) among non-syndromic male (N = 14) and female (N = 10) children with autism revealed that only autistic male children had significantly shorter RTL than typically-developing controls (N = 24) and paired siblings (N = 10). While average RTL of autistic girls did not differ significantly from controls, it was substantially longer than autistic boys. Our findings indicate a sexually-dimorphic pattern of RTL in childhood autism and could have important implications for RTL as a potential biomarker and the role/s of telomeres in the molecular mechanisms responsible for ASD sex-biased prevalence and etiology.

Systematic approach for designing zero-DGD coupled multi-core optical fibers.

An analytical method is presented for designing N-coupled multi-core fibers with zero differential group delay. This approach effectively reduces the problem to a system of N-1 algebraic equations involving the associated coupling coefficients and propagation constants, as obtained from coupled mode theory. Once the parameters of one of the cores are specified, the roots of the resulting N-1 equations can be used to determine the characteristics of the remaining waveguide elements. Using this technique, a number of pertinent geometrical configurations are investigated to minimize intermodal dispersion.

Molecular identification of Hartmannella vermiformis and Vannella persistens from man-made recreational water environments, Tehran, Iran.

A survey was conducted on man-made recreational water located in different regions of Tehran, Iran to detect the free-living amoebae present in ponds and fountains of parks and squares. Fifty water samples from 22 municipal districts of Tehran were screened for free-living amoebae and identified by morphological characters and polymerase chain reaction amplification. Amoebae detected were identified as Hartmannella vermiformis (12 %) and Vannella persistens (4 %), which are the first reports of these two amoebas in recreational water environments of Iran. Since, H. vermiformis, which is highly similar to strains serving as hosts for Legionella pneumophila, is a common component of the microbial community in fresh surface water. Although Vannella spp. is not proved to be pathogenic itself, they are capable of harboring pathogenic intracellular organisms. Due to some reports related to pathogenicity of these amoebas, the particular hazard related to these microorganisms should be taken into account in the encounter with drinking and washing in these waters. We recommend control strategies based on physical removal rather than on disinfection to be adopted where necessary.

Isolation of Acanthamoeba species in surface waters of Gilan province-north of Iran.

We analyzed water samples to determine the prevalence of free-living Acanthamoeba in water sources from Gilan, greater area, Iran. A total of 27 surface water samples were collected from environmental sources, including natural (rivers, lakes, springs, and lagoon) and freshwater source. The samples were filtrated and transferred to non-nutrient agar plates seeded with Escherichia coli and incubated for 2 to 7 days at 30°C or 42°C. The plates were examined by microscopy to morphologically identify Acanthamoeba species. Following DNA extraction, PCR was used to confirm the microscopically identification. A total of 19 out of 27 samples (70.3%) were positive for Acanthamoeba species based on the morphological criteria, and 14 (73.7%) were confirmed by PCR method. The high frequency of Acanthamoeba spp. in different environmental water sources of Gilan is an alert for the public health related to water sources in Iran.