نتایج جستجو برای: hereditary sensory autonomic neuropathy

تعداد نتایج: 236104  

2010
Elefterios Stamboulis Konstantinos Voumvouraki Thomas Zambelis Athina Andrikopoulou Demetrios Vlahakos Athanasios Tsivgoulis Demetrios Rallis Georgios Tsivgoulis

BACKGROUND AND PURPOSE The potential association between the severity of autonomic dysfunction and peripheral neuropathy has not been extensively investigated, with the few studies yielding inconsistent results. We evaluated the relationship between autonomic dysfunction and peripheral neuropathy in chronic hemodialysis patients in a cross-sectional study. METHODS Cardiovascular autonomic fun...

Journal: :Lancet 2002
E Hoitsma M Marziniak C G Faber J P H Reulen C Sommer M De Baets M Drent

Some patients with sarcoidosis have unexplained pain and dysaesthesia. We did quantitative sensory testing in 31 sarcoidosis patients with pain or autonomic dysfunction. 25 patients had reduced warmth sensitivity, cold sensitivity, or both. Intraepidermal nerve fibre density (IENFD) was measured in punch biopsy skin samples in seven consecutive patients. All seven patients had reduced IENFD com...

Journal: :Leprosy review 2008
Natasja H J van Veen Peter G Nicholls W Cairns S Smith Jan Hendrik Richardus

OBJECTIVE Corticosteroids are commonly used for treating nerve damage in leprosy. We assessed the effectiveness of corticosteroids for treating nerve damage due to leprosy. METHODS A systematic search was undertaken to identify randomised controlled trials (RCTs) comparing corticosteroids with placebo or with no treatment. Two authors independently assessed quality and extracted data. Where i...

Journal: :Human molecular genetics 2005
Alexander McCampbell David Truong Daniel C Broom Andrew Allchorne Ken Gable Roy G Cutler Mark P Mattson Clifford J Woolf Matthew P Frosch Jeffrey M Harmon Teresa M Dunn Robert H Brown

Mutations in enzymes involved in sphingolipid metabolism and trafficking cause a variety of neurological disorders, but details of the molecular pathophysiology remain obscure. SPTLC1 encodes one subunit of serine palmitoyltransferase (SPT), the rate-limiting enzyme in sphingolipid synthesis. Mutations in SPTLC1 cause hereditary sensory and autonomic neuropathy (type I) (HSAN1), an adult onset,...

Journal: :International journal of oral and maxillofacial surgery 2010
K-H Bormann M M Suarez-Cunqueiro C von See H Kokemüller P Schumann N-C Gellrich

The aim of this study is to describe the treatment outcome after alveolar ridge augmentation in the atrophic posterior mandible by segmental sandwich osteotomy combined with an interpositional autograft prior to placement of endosseous implants. Thirteen consecutive patients (five males, mean age 48 years, and eight females, mean age 61 years) were included in this study. The postoperative cour...

Journal: :Pediatrics international : official journal of the Japan Pediatric Society 2015
Nobuhiko Haga Masaya Kubota Zenzo Miwa

Hereditary sensory and autonomic neuropathy (HSAN) is a group of genetic disorders involving varying sensory and autonomic dysfunction. HSAN types IV and V are characterized by congenital generalized loss of pain and thermal sensation. HSAN type IV is additionally accompanied by decreased sweating and intellectual disability. From 2010 to 2013, we (members of the Japanese Research Group on Cong...

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