نتایج جستجو برای: hereditary sensory and autonomic neuropathies

تعداد نتایج: 16848591  

Journal: :The Journal of bone and joint surgery. British volume 2005
H M Rathur A J M Boulton

Neuropathy is a common complication of diabetes and is characterised by a progressive loss of peripheral nerve fibres. 2 There are a number of manifestations including both monoand polyneuropathies. In the diabetic foot, distal sensory polyneuropathy is seen most commonly. However, motor and autonomic fibres may also be involved and combined neuropathies frequently occur. The development of a n...

Journal: :The Journal of neuroscience : the official journal of the Society for Neuroscience 2009
Marco L Loggia M Catherine Bushnell Martine Tétreault Isabelle Thiffault Claude Bhérer Nazma K Mohammed Anil A Kuchinad Audrey Laferrière Marie-Josée Dicaire Lina Loisel Jeffrey S Mogil Bernard Brais

Hereditary sensory and autonomic neuropathy type 2 (HSAN2) is a rare recessive genetic disorder characterized by severe sensory loss affecting the tactile, thermal and nociceptive modalities. Although heterozygous carriers of nonsense mutations in the HSN2 gene, called with-no-lysine(K)-1 (WNK1), do not develop the disease, historical and experimental evidence suggests that these individuals mi...

Journal: :Experimental neurology 2013
Vincent Timmerman Virginia E Clowes Evan Reid

In this review we focus on Charcot-Marie-Tooth (CMT) neuropathies and hereditary spastic paraplegias (HSPs). Although these diseases differ in whether they primarily affect the peripheral or central nervous system, both are genetically determined, progressive, long axonopathies that affect motor and sensory pathways. This commonality suggests that there might be similarities in the molecular pa...

Journal: :Journal of neurology, neurosurgery, and psychiatry 1999
S A Smith S E Smith

OBJECTIVE To develop a method for the detection of bilateral Horner's syndrome in patients with bilateral interruption of the cervical sympathetic pathway or widespread autonomic neuropathy. METHODS Darkness pupil diameters and redilatation times during light reflexes have been recorded with infrared TV pupillometry in 65 healthy subjects, 47 patients with unilateral Horner's syndrome, and 20...

Journal: :Leprosy review 2008
Jianping Shen Guocheng Zhang Rongde Yang Tingying Hu Min Zhou

Hereditary sensory neuropathy (HSN) is a rare disorder of peripheral sensory neurons. It was also known as hereditary sensory and autonomic neuropathy. It is characterised by a chronic clinical evolution with ulcerations, loss of sensation and destruction of terminal digits of feet and hands. It usually begins in childhood. Symptoms start with inflamed fingers or toes especially around the nail...

2012
Karl-Heinz Konopka Marten Harbers Andrea Houghton Rudie Kortekaas Andre van Vliet Wia Timmerman Johan A. den Boer Michel M.R.F. Struys Marten van Wijhe

In patients who experience unilateral chronic pain, abnormal sensory perception at the non-painful side has been reported. Contralateral sensory changes in these patients have been given little attention, possibly because they are regarded as clinically irrelevant. Still, bilateral sensory changes in these patients could become clinically relevant if they challenge the correct identification of...

2005
MOHAMMAD ABDOLLAHI

Stochastic activity networks (SANs) are a powerful and flexible extension of Petri nets. These models can be used for the modelling and analysis of various kinds and different aspects of distributed real-time systems. Similar to other classical extensions of Petri nets, SANs have some limitations for modelling complex and large-scale systems. In order to remove some of these limitations and pro...

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