نتایج جستجو برای: hsan type iv
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The NeuroScope is a new device which produces a continuous real-time index of cardiac parasympathetic activity (the CIPA) and accurately measures RR intervals. The reproducibility of the CIPA has not yet been assessed. This study was designed to assess the reproducibility of a 5 minute recording of the CIPA using the NeuroScope and compare it with that of conventional heart rate variability (HR...
Hereditary sensory and autonomic neuropathy (HSAN) type 1 is a rare hereditary neurological disorder. Two brothers aged 17 and 14 years had HSAN type 1 as both had big ulcers on feet, mutilation, dissociated anaesthesia, absent ankle jerks and normal hands. Probably these are first cases of HSAN type 1 in Indian literature.
During adulthood, the neurotrophin Nerve Growth Factor (NGF) sensitizes nociceptors, thereby increasing the response to noxious stimuli. The relationship between NGF and pain is supported by genetic evidence: mutations in the NGF TrkA receptor in patients affected by an hereditary rare disease (Hereditary Sensory and Autonomic Neuropathy type IV, HSAN IV) determine a congenital form of severe p...
Pain protects the body from damaging effects of harmful stimuli. Congenital insensitivity to pain is a rare inherited disorder characterized by diminished or absent sensitivity to pain, touch, and pressure that leads to frequent trauma and self-mutilation. The disorder is part of the hereditary sensory and autonomic neuropathy (HSAN) family, in which 5 types have been recognized. Research and c...
Hereditary sensory and autonomic neuropathy type I (HSAN-I) is an axonal peripheral neuropathy associated with progressive distal sensory loss and severe ulcerations. Mutations in the first subunit of the enzyme serine palmitoyltransferase (SPT) have been associated with HSAN-I. The SPT enzyme catalyzes the first and rate-limiting step in the de novo sphingolipid synthesis pathway. However, dif...
Hereditary sensory and autonomic neuropathy type I (HSAN I) is the most frequent type of hereditary neuropathy that primarily affects sensory neurons. The genetic locus for HSAN I has been mapped to chromosome 9q22.1-22.3 and recently the gene was identified as SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1. Sequencing in HSAN I families have previously identified mutat...
Congenital insensitivity to pain or more scientifically Hereditary sensory and autonomic neuropathies (HSAN) is a rare genetic disorder which associates dysfunction with varying degree of dysfunction. Due the peripheral neuropathy, decreased sensitivity even complete anesthesia may be present resulting in, on ophthalmological level, neurotrophic ulcers. We report case 2 sisters (JM KM) presenti...
Objective The Hereditary Sensory and Autonomic neuropathy (HSAN) is a rare group of neuropathies that affects the Sensory and Autonomic nervous system. The patients do not have the ability of sensing different sensations such as pain and temperature, which tends to lead to different injuries. In addition, due to autonomic involvement, the patients suffer from fluctuation in body temperature per...
Although necrotizing fasciitis (NF) is a rapidly progressive infection, recurrent NF is very rare. Herein we report a rare case of recurrent NF due to Streptococcus pyogenes. A 12-year-old female with hereditary sensory and autonomic neuropathy (HSAN) type IV presented with fever and swelling on her left knee. NF was diagnosed and she was treated successfully. Two years later she was readmitted...
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