Dystonia in Ataxia Telangiectasia: A Case Report with Novel Mutations.

Ataxia telangiectasia (A-T) is a common, genetically inherited cause of early childhood-onset ataxia that is classically characterized by progressive cerebellar malfunction, oculocutaneous telangiectasia, genome instability, and immunodeficiency. There is vast phenotype variation in patients with A-T and recently, dystonia, an extrapyramidal movement disorder. Here, we report the case of a 10-year-old girl who had experienced repeated diarrhea and mild gait ataxia since the age of two years. At age seven, ataxia and ocular telangiectasia were evident and immunoglobulin level assessment showed hyper IgM immune phenotype, thus a diagnosis of A-T was made based on clinical and laboratory findings, and she was started on intravenous immunoglobulin therapy. Generalized dystonia appeared when she was 10-years-old. Molecular analysis revealed two heterozygous mutations, c.6259delG and c.6658C>T, in the ATM gene of which one (c.6259delG) is novel. Dystonia can be part of the clinical picture in the A-T disorder and may even mask ataxia. This should be considered as a major feature mainly in variant A-T, which may occur without general ataxia and may be misdiagnosed in adults with primary dystonia.

Associations of Behavioral Disorders with Asthma in Iranian Children.

Asthma is a common respiratory disease with huge economic burden leading to activity limitations, morbidity, and mortality. In this study, we aim to investigate the prevalence of Oppositional Defiant Disorder (ODD), Attention Deficit Hyperactivity Disorder (ADHD) and Conduct Disorder (CD) among children with asthma. This case-control study was performed in a pediatric referral health care center(Children's Medical CenterinTehran University of Medical Sciences) in 2017.With random selection, the 80 children with asthma and 92 controls with age range of 5 to 11 years were enrolled in this study. In addition to the demographic information and family history of allergy, asthma symptoms, and control quality evaluated with a validated Childhood Asthma Control Test (C-ACT). The mode of measurement for ADHD, ODD and CD was based on Diagnostic and Statistical Manual of Mental Disorders-IV (DSM-IV) psychiatric scales from clinical interviews conducted by child psychiatrists. Totally, 42.5% and 25% in the case and control groups had ADHD respectively withsignificant difference (p=0.01). Also, 25% and 5.4% in thecase and control groups had ODD respectively with significant difference (p=0.001). But conduct disorder was 10% and 10.9% in case and control groups respectively without significant difference (p=0.8). Children with asthma were associated with exhibiting ADHD and ODD but not CD. Therefore, appropriate evaluation and treatment are needed for asthmatic children with attention-deficit and ODD symptoms. Besides, further research is needed to determine the etiological approach towards ADHD, ODD and asthma.

Characterization of large array of plasmonic nanoparticles on layered substrate: dipole mode analysis integrated with complex image method.

In this paper, an efficient analytical method for characterizing large array of plasmonic nanoparticles located over planarly layered substrate is introduced. The model is called dipole mode complex image (DMCI) method since the main idea lies in modeling a subwavelength spherical nanoparticle at its electric scattering resonance with an induced electric dipole and representing the electromagnetic (EM) fields of this electric dipole over the layered substrate in terms of finite complex images. The major advantages of the proposed method are its accuracy and rapid calculation in characterizing various kinds of large periodic and aperiodic arrays of nanoparticles on layered substrates. The computational time can be reduced significantly in compared to the traditional methods. The accuracy of the theoretical model is validated through comparison with numerical integration of Sommerfeld integrals. Moreover, the analytical results are compared well with those determined by full-wave finite difference time domain (FDTD) method. To demonstrate the capability of our technique, the performances of large arrays of nanoparticles on layered silicon substrates for efficient sunlight energy incoupling are studied.