Angelman Syndrome: A Case Report

How to Cite This Article: Ashrafzadeh F, Sadrnabavi A, Akhondian J, Beiraghi Toosi M, Mohammadi MH, Hassanpour K. Angelman Syndrome: A Case Report. Iran J Child Neurol. Spring 2016; 10(2):86-89.AbstractObjectiveAngelman syndrome (AS) is a neurodevelopmental disorder presented by jerky movement, speech delay and cognitive disability epilepsy as well as dysmorphic features. It occurs due to an expression deletion in 15q11-q13 chromosome. In this article, we present an eight yr boy referred to Pediatrics Neurologic Clinic Mashhad, Iran for speech delay. He had abnormal behavior ataxia unusual laughing facial expression intellectual disability and mandibular prognathism.Metabolic screening tests and brain MRI were normal. Genetic analysis was pathognomonic for AS. ReferencesJolleff N, Ryan MM. Communication development in Angelman's syndrome. Arch Dis Child. 1993 Jul;69(1):148-50.Landsman IS, Mitzel HM, Peters SU, Bichell TJ. Are children with Angelman syndrome at high risk for anesthetic complications? Paediatr Anaesth. 2012 Mar;22(3):263-7. doi: 10.1111/j.1460-9592.2011.03661.x. Epub 2011 Aug 1.Bai JL, Qu YJ, Zou LP, Yang XY, Liu LJ, Song F. A novel missense mutation of the ubiquitin protein ligase E3A gene in a patient with Angelman syndrome. Chin Med J (Engl). 2011 Jan;124(1):84-8.Cobben JM, van Hal A, van den Puttelaar-van Hal N, van Dijk FS. [A girl with Angelman syndrome]. Ned Tijdschr Geneeskd. 2014;158(0):A8092. [Article in Dutch]Fiumara A1, Pittalà A, Cocuzza M, Sorge G. Epilepsy in patients with Angelman syndrome. Ital J Pediatr. 2010 Apr 16;36:31. doi: 10.1186/1824-7288-36-31.Giroud M, Daubail B, Khayat N, Chouchane M, Berger E, Muzard E.Angelman Syndrome: A Case Series Assessing Neurological Issues in Adulthood. Eur Neurol. 2014 Nov 29;73(1-2):119-125. [Epub ahead of print]Larson AM, Shinnick JE, Shaaya EA, Thiele EA, Thibert RL. Angelman syndrome in adulthood. Am J Med Genet A. 2014 Nov 26. doi: 10.1002/ajmg.a.36864. [Epub ahead of print]Lewis MW, Brant JO, Kramer JM, Moss JI, Yang TP, Hansen P. Angelman syndrome imprinting center encodes a transcriptional promoter. Proc Natl Acad Sci U S A. 2014 Nov 5. pii: 201411261. [Epub ahead of print]Mertz LG, Christensen R, Vogel I, Hertz JM, Nielsen KB, Grønskov K. Angelman syndrome in Denmark. birth incidence, genetic findings, and age at diagnosis. Am J Med Genet A. 2013 Sep;161A(9):2197-203. doi: 10.1002/ajmg.a.36058. Epub 2013 Aug 2.Veiga MF, Toralles MB. [Neurological manifestation and genetic diagnosis of Angelman, Rett and Fragile-X syndromes]. J Pediatr (Rio J). 2002 Jul;78 Suppl 1:S55-62. [Article in Portuguese]Clayton-Smith J, Laan L. Angelman syndrome: a review of the clinical and genetic aspects. J Med Genet 2003;40: 87–95.Thibert RL, Conant KD, Braun EK, Bruno P, Said RR, Nespeca MP, Thiele EA. Epilepsy in Angelman syndrome: a questionnaire-based assessment of the natural history and current treatment options. Epilepsia. 2009 Nov;50(11):2369-76. doi: 10.1111/j.1528-1167.2009.02108.x. Epub 2009 May 12.Buiting K, Saitoh S, Gross S, Dittrich B, Schwartz S, Nicholls RD, Horsthemke B. Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. Nat Genet. 1995 Apr;9(4):395-400.Luedi PP, Dietrich FS, Weidman JR, Bosko JM, Jirtle RL, Hartemink A. Computational and experimental identification of novel human imprinted genes. Genome Res 2007;17:1723-1730

Analysis and optimization of building energy efficiency in Hammarby Sjöstad

It is often considered that building performance in an operational phase is not as good as its designed performance. In fact, approximately 40% of the world’s total primary energy consumption is accounted existing buildings. Therefore, it would be of a great importance to analyze and optimize the existing buildings performance by taking total energy consumption and comfort situation into consideration. This is possible through measuring and analyzing the current building performance. Hammarby Sjöstad is a high profile example of sustainable city development which has been chosen as a case study in this research project because most of the operational buildings located there have not reached their projected efficiency during the design phase. Therefore, the main objective of this research study is to investigate this problem and formulate cost-effective, high performance solutions in order to increase the overall efficiency of the buildings in Hammarby area. In this study a “Case Study” methodology has been performed with literature studies, in-depth interviews, seminars and gathering of quantitative data, concerning the operational goals of the environmental program of Hammarby Sjöstad. To gather the required data, meetings with different organizations were scheduled. More than 15 important parameters were gathered for more than 100 buildings in Hammarby Sjöstad. Going through all the data, some relations were discovered which led to interesting yet simple solutions for the low energy efficiency of the buildings in the area. Patterns were recognized however they had to be evaluated and their accuracy had to be tested. Moreover, to further evaluate the performance of the buildings, Energy audits were done with the help of an energy expert. The aforementioned buildings were visited and their performance was checked in detail to further prove the pattern results. Different parameters were considered during the visits including the architecture, technical installations and maintenance. Meanwhile, by taking advantage of the DesignBuilder software, a number of simulations were performed in order to further examine the previous findings. Finally, some practical recommendations and also conclusions are presented.

Antibacterial Activity of ZnO Nanoparticles and Filters Coated with ZnO Nanoparticles on Eliminating Escherichia coli and Enterococcus faecalis

Clean water is vital to both human life and preservation of ecosystems. The goal of this study was to investigate the antibacterial effects of ZnO nanoparticles and filters coated with different sizes of ZnO nanoparticles on Escherichia coli (ATCC: 25922) and Enterococcus faecalis (ATCC: 11700) as the predominant bacteria in contaminated water. The antibacterial effects of ZnO nanoparticles (5 and 100 nm in size) at concentrations of 12.5, 25.0, 50.0, and 100.0 mg/ml were determined using the well diffusion method in vitro. Minimum inhibitory concentrations and minimal bactericidal concentrations of ZnO nanoparticles were determined by the broth micro-dilution method. In another part of the study, ZnO nanoparticles were coated on polypropylene filters using the precipitation method to investigate their removal efficiency. Filtration of contaminated water was performed using a standard number of the bacteria being tested. ZnO nanoparticles (5 nm) at a concentration of 100.0 mg/ml showed maximum sensitivity against E.coli and Enterococcus faecalis by inhibition zones of 14.00±1.73 and 11.67±1.52 mm, respectively. Maximum inhibitory concentration of ZnO nanoparticles was determined as 25mg/ml. A significant relationship was found between antibacterial activity and ZnO nanoparticles concentration (P. valu