نتایج جستجو برای: metaphyseal chondrodysplasia
تعداد نتایج: 2147 فیلتر نتایج به سال:
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...
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 ...
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.
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...
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 ...
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...
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...
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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