نتایج جستجو برای: metaphyseal chondrodysplasia

تعداد نتایج: 2147  

Journal: :Collegium antropologicum 2008
Davor Sporis Sanja Hajnsek Marina Boban Silvio Basić Ratimir Petrović Marko Rados Tomislav Babić

Malformations of cortical development (MCD) have been increasingly recognized as an important cause of intractable epilepsy. The aim of our study was to define epileptogenicity of MCDs by correlating MRI, EEG and semiology of epileptic attacks, and to determine the effect of MCD on drug resistant epilepsy. We also intended to reveal the utility of interictal single photo emission computed tomog...

Journal: :The Turkish journal of pediatrics 2007
Serdal Güngör Dilek Yalnizoğlu Güzide Turanli Işil Saatçi Emel Erdoğan-Bakar Meral Topçu

Patients with malformations of cortical development (MCD) present with a wide spectrum of clinical manifestations ranging from asymptomatic cases to those with epilepsy and neurodevelopmental problems. Thorough clinical delineation of patients with MCD may provide clues for future phenotype-genotype correlation studies. We studied clinical features of patients with MCD, including developmental ...

Journal: :Journal of medical genetics 1998
N Elçioglu C M Hall

Two sibs with chondrodysplasia punctata in whom the mother was suffering from systemic lupus erythematosus are presented and the radiological features described. Comparison with other forms of chondrodysplasia punctata with a review of the relevant publications is presented and the possible association with maternal systemic lupus erythematosus is highlighted.

Journal: :Brain : a journal of neurology 2001
A Hammers M J Koepp M P Richardson C Labbé D J Brooks V J Cunningham J S Duncan

We calculated [(11)C]flumazenil volume of distribution ([(11)C]FMZ-V(d)) after correction for partial volume effect in 10 patients with malformations of cortical development (MCDs) and partial seizures, to quantify the GABA(A)-central benzodiazepine receptor complex. Abnormal grey matter and adjacent or overlying cortex were outlined individually and added to an individualized anatomical templa...

2014
Nimmi Gupta Krishna Kumar Joshi

A wireless ad hoc network is a notable type of network in which a collection of mobile nodes with wireless network interfaces may form a temporary network, without use of any fixed infrastructure or centralized control. The Dynamic Source Routing protocol (DSR) is a efficient routing protocol explicitly designed for multi-hop wireless ad hoc networks of mobile nodes. A connected dominating set ...

Journal: :Dementia and geriatric cognitive disorders 2009
Nicolas Cherbuin Chantal Reglade-Meslin Rajeev Kumar Patricia Jacomb Simon Easteal Helen Christensen Perminder Sachdev Kaarin J Anstey

AIMS The aim of this study was to identify physical and mental health and lifestyle predictors of transition from normal cognition to mild cognitive disorder (MCD). METHODS A total of 2,082 individuals, aged 60-64 years, were assessed at 2 time-points 4 years apart for mild cognitive impairment (MCI) and other MCDs. RESULTS The main predictors of conversion to MCI and to other mild cognitiv...

2009

Connected dominating set (CDS), also known as virtual backbone, is a fundamental structure in multihop wireless networks with a broad range of applications in routing and network management (cf. a recent survey [3] and references therein). A CDS is a subset of nodes U such that any pair of non-adjacent nodes can communicate with each other though the nodes in U (see Figure 1). For many applicat...

Journal: :The Journal of clinical investigation 1998
A S Jobert P Zhang A Couvineau J Bonaventure J Roume M Le Merrer C Silve

We report the absence of functional parathyroid hormone (PTH)/PTH-related peptide (PTHrP) receptors (PTH/PTHrP receptor) in Blomstrand chondrodysplasia, a genetic disorder characterized by advanced endochondral bone maturation. Analysis of PTH/PTHrP receptor genomic DNA from a patient with Blomstrand chondrodysplasia demonstrated that the patient was heterozygous for a point mutation (G--> A su...

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