Spontaneous expression of FRA3P in a patient with Nager syndrome

2003 ◽  
Vol 118A (3) ◽  
pp. 293-295 ◽  
Author(s):  
Luca Scapoli ◽  
Marcella Martinelli ◽  
Furio Pezzetti ◽  
Elisabetta Carahelli ◽  
Francesco Carinci ◽  
...  
2010 ◽  
Vol 3 (1) ◽  
pp. 17 ◽  
Author(s):  
Jean-Marc Lelièvre ◽  
Daniel Le Bourhis ◽  
Amandine Breton ◽  
Hélène Hayes ◽  
Jean-Luc Servely ◽  
...  

1986 ◽  
Vol 78 (1) ◽  
pp. 61-66 ◽  
Author(s):  
J F Mornex ◽  
Y Martinet ◽  
K Yamauchi ◽  
P B Bitterman ◽  
G R Grotendorst ◽  
...  

2011 ◽  
Vol 126 (1) ◽  
pp. 76-78 ◽  
Author(s):  
G P Davies ◽  
I J M Johnson

AbstractObjective:To report the first case of treatment of Nager syndrome associated conductive hearing loss with bone-anchored hearing aids, in a three-year-old boy.Method:Clinical case report and current literature review regarding the use of bone-anchored hearing aids in the treatment of conductive hearing loss in children.Results:A three year eight month old boy with Nager syndrome was successfully treated for conductive hearing loss using bilateral bone-anchored hearing aids.Conclusion:This is the first case report of the use of bone-anchored hearing aids to treat Nager syndrome associated conductive hearing loss. Treatment was safe and successful in this case.


Author(s):  
E. Hollister Mathis-Masury

The legacy of John Cranko’s Stuttgart Ballet includes his ballets and his underlying philosophy of “experiential intersubjectivity”—a collaborative creative process based on observation of individual experience. Working closely with his colleagues (dancers, composers, designers, etc.), Cranko sought their spontaneous expression to his cue or their solution to the challenges of creating. His choreographic philosophy led away from the traditionally exclusive, hierarchical work style of the ballet world and toward a work style producing individuality and originality. Successfully integrating the divergent ideas and instinctive expressivity of many separate individuals into his ballets, Cranko did more than enable an individualized viewer experience, accessible to a diversified audience. Importantly, Cranko also empowered his colleagues with his democratic and collaborative way of creating ballets in Stuttgart, ultimately forming such choreographers as Jiří Kylián, John Neumeier, and William Forsythe. This chapter looks at what shaped Cranko’s Stuttgart Ballet, the choreographic oeuvre, and the legacy today.


2001 ◽  
Vol 85 (6) ◽  
pp. 2516-2536 ◽  
Author(s):  
Nathalie Giroux ◽  
Tomás A. Reader ◽  
Serge Rossignol

Several studies have shown that noradrenergic mechanisms are important for locomotion. For instance, L-dihydroxyphenylalanine (L-DOPA) can initiate “fictive” locomotion in immobilized acutely spinalized cats and α2-noradrenergic agonists, such as 2,6,-dichloro- N-2-imidazolidinylid-enebenzenamine (clonidine), can induce treadmill locomotion soon after spinalization. However, the activation of noradrenergic receptors may be not essential for the basic locomotor rhythmicity because chronic spinal cats can walk with the hindlimbs on a treadmill in the absence of noradrenergic stimulation because the descending pathways are completely severed. This suggests that locomotion, in intact and spinal conditions, is probably expressed and controlled through different neurotransmitter mechanisms. To test this hypothesis, we compared the effect of the α2 agonist, clonidine, and the antagonist (16α, 17α)-17-hydroxy yohimbine-16-carboxylic acid methyl ester hydrochloride (yohimbine), injected intrathecally at L3–L4before and after spinalization in the same cats chronically implanted with electrodes to record electromyograms (EMGs). In intact cats, clonidine (50–150 μg/100 μl) modulated the locomotor pattern slightly causing a decrease in duration of the step cycle accompanied with some variation of EMG burst amplitude and duration. In the spinal state, clonidine could trigger robust and sustained hind limb locomotion in the first week after the spinalization at a time when the cats were paraplegic. Later, after the spontaneous recovery of a stable locomotor pattern, clonidine prolonged the cycle duration, increased the amplitude and duration of flexor and extensor bursts, and augmented the foot drag at the onset of swing. In intact cats, yohimbine at high doses (800–1600 μg/100 μl) caused major walking difficulties characterized by asymmetric stepping, stumbling with poor lateral stability, and, at smaller doses (400 μg/100 μl), only had slight effects such as abduction of one of the hindlimbs and the turning of the hindquarters to one side. After spinalization, yohimbine had no effect even at the largest doses. These results indicate that, in the intact state, noradrenergic mechanisms probably play an important role in the control of locomotion since blocking the receptors results in a marked disruption of walking. In the spinal state, although the receptors are still present and functional since they can be activated by clonidine, they are seemingly not critical for the spontaneous expression of spinal locomotion since their blockade by yohimbine does not impair spinal locomotion. It is postulated therefore that the expression of spinal locomotion must depend on the activation of other types of receptors, probably related to excitatory amino acids.


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