نتایج جستجو برای: hereditary sensory and autonomic neuropathies
تعداد نتایج: 16848591 فیلتر نتایج به سال:
The role of sensory-motor representations in object recognition was investigated in experiments involving AD, a patient with mild visual agnosia who was impaired in the recognition of visually presented living as compared to non-living entities. AD named visually presented items for which sensory-motor information was available significantly more reliably than items for which such information w...
Human Hereditary Sensory Autonomic Neuropathies (HSANs) are characterized by insensitivity to pain, sometimes combined with self-mutilation. Strikingly, several sporting dog breeds are particularly affected by such neuropathies. Clinical signs appear in young puppies and consist of acral analgesia, with or without sudden intense licking, biting and severe self-mutilation of the feet, whereas pr...
In order to elicit the usefulness of sural nerve biopsy we retrospectively evaluated the courses of disease of every patient, who underwent this procedure in our department between January 1995 and March 2000. Sixty seven patients with the suspected diagnosis of peripheral neuropathy could be included. From these chart reviews and patient questionings were done. Inflammatory-demyelinating neuro...
Numerous transgenic and knockout mouse models of human hereditary neuropathies have become available over the past decade. We describe a simple, reproducible, and safe biopsy of mouse skin for histopathological evaluation of the peripheral nervous system (PNS) in models of hereditary neuropathies. We compared the diagnostic outcome between sciatic nerve and dermal nerves found in skin biopsy (S...
Hereditary recurrent neuropathies are uncommon. Disorders with a known molecular basis falling within this group include hereditary neuropathy with liability to pressure palsies (HNPP) due to the deletion of the PMP22 gene or to mutations in this same gene, and hereditary neuralgic amyotrophy (HNA) caused by mutations in the SEPT9 gene. We report a three-generation family presenting a hereditar...
objectives: the prevalence of consanguineous marriage is about 30 % in iran and this can increase the probability of incidence of genetic impairments such as hearing impairments. hearing impairment in comparison with other hereditary disorders is the most incident. the purpose of this survey is to identify the prevalence of consanguinity among the parents of sensoryneural hearing impaired stude...
The nerve growth factor (NGF) is a neurotrophin regulating the survival and function peripheral sensory and sympathetic neurons and of forebrain cholinergic neurons. Both peripheral neuropathies and brain cholinergic dysfunctions could benefit from NGFbased therapies, but the clinical use of NGF has been so far hampered by the development of important side effects, like hyperalgesia and autonom...
Hereditary sensory autonomic neuropathy Type IV is an autosomal recessive disorder due to lack of maturation of small myelinated and unmyelinated fibers of peripheral nerves, which convey sensation of pain and temperature. There is anhidrosis due to lack of innervation of normal sweat glands resulting in recurrent episodes of hyperpyrexia. These patients usually present in late infancy. Here we...
[Purpose] There is a dearth of studies that have examined the occurrence of sensory processing dysfunction and its components in Saudi Arabian children with autism. Therefore, this study investigated the manifestation of sensory processing dysfunction in autism and compared the functional components of sensory processing between Saudi Arabian children with and without autism. [Subjects and Meth...
Congenital Insensitivity to pain with anhydrosis (CIPA) is a rare inherited disease. It is classified as hereditary sensory and autonomic neuropathy type IV. Pain insensitivity and autonomic deficits are present, but touch and pressure sensitivity are unimpaired. Mental retardation is usually present. We report a family case of a 5 years old girl and 2 years old boy with congenital insensitivit...
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