Gargoylism or Hurler's syndrome (Hunter, 1917; Hurler, 1919) is a rare genetically determined disease (McKusick, 1960) appearing in autosomal recessive and sex-linked forms. Two of the six known sulphated mucopolysaccharides are produced in excess, namely chondroitin sulphate B and heparitin sulphate. They accumulate in most organs of the body, especially in the liver and the spleen (Meyer, Gru...

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. abstract objective angelman 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...

Most cases of Van der Woude syndrome are caused by a mutation to interferon regulatory factor 6 on chromosome 1. Turner syndrome is caused by complete or partial absence of the second sex chromosome in girls. We describe a unique case of the two syndromes occurring concurrently though apparently independently in a girl with Van der Woude syndrome diagnosed at birth and Turner syndrome at 14 yea...

Gargoylism or Hurler's syndrome (Hunter, 1917; Hurler, 1919) is a rare genetically determined disease (McKusick, 1960) appearing in autosomal recessive and sex-linked forms. Two of the six known sulphated mucopolysaccharides are produced in excess, namely chondroitin sulphate B and heparitin sulphate. They accumulate in most organs of the body, especially in the liver and the spleen (Meyer, Gru...

In South Africa, the legislature’s response to negative consequences resulting from pervasive use of disclaimers by suppliers has been regulate these terms through enactment a number provisions in Consumer Protection Act 68 2008 (CPA), including sections 48, 49 and 51. A publications have considered meaning impact they may on consumer contracts. As consequence widespread adverse hold for consum...

MelvinM. Grumbach, MD, widely regarded as the world’s foremost pediatric endocrinologist, died October 4, 2016, at the age of 90 (Fig. 1). Beloved by all and affectionately known as Mel, he was the Edward B. Shaw Professor of Pediatrics, Emeritus, former Chairman of the Department of Pediatrics (1966–1986) at the University of California, San Francisco (UCSF) and a former President of The Endoc...

We study classes of innnite but nitely representable databases based on constraints , motivated by new database applications such as geographical databases. We formally deene these notions and introduce the concept of query which generalizes queries over classical relational databases. We prove that in this context the basic properties of queries (satissability, containment, equivalence, etc.) ...