نتایج جستجو برای: hereditary sensory and autonomic neuropathies

تعداد نتایج: 16848591  

2003
MOHAMMAD ABDOLLAHI

Stochastic activity networks (SANs) are a powerful and flexible extension of Petri nets. These models can be used for the modeling 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 modeling complex and largescale systems. In order to remove these limitations and provide some h...

Journal: :Anesthesiology 2012
Scott D Cook-Sather Luigi Viola Karen B Zur Berish Y Rubin

F AMILIAL dysautonomia (FD, also known as Riley-Day syndrome) is a rare (1:3,700 live births) autosomal recessive disorder, largely afflicting those of Ashkenazi Jewish descent. One of five hereditary sensory and autonomic neuropathies (HSAN, type III) influencing the development and survival of varied sensory, sympathetic, and parasympathetic neurons, FD is characterized by profound autonomic ...

2017
Marta Chaverra Lynn George Marc Mergy Hannah Waller Katharine Kujawa Connor Murnion Ezekiel Sharples Julian Thorne Nathaniel Podgajny Andrea Grindeland Yumi Ueki Steven Eiger Cassie Cusick A Michael Babcock George A Carlson Frances Lefcort

Hereditary sensory and autonomic neuropathies (HSANs) are a genetically and clinically diverse group of disorders defined by peripheral nervous system (PNS) dysfunction. HSAN type III, known as familial dysautonomia (FD), results from a single base mutation in the gene IKBKAP that encodes a scaffolding unit (ELP1) for a multi-subunit complex known as Elongator. Since mutations in other Elongato...

Journal: :Neurology 2015
Jose-Alberto Palma Glen A Cook Mitchell G Miglis Adam Loavenbruck

Autonomic nervous system (ANS) dysfunction as a cause of disease is an increasingly recognized health problem, not only in the field of neurology, but also in cardiology, gastroenterology, endocrinology, urology, psychiatry, and primary care medicine. Patients may present with a myriad of symptoms including orthostatic intolerance, recurrent syncope, labile blood pressure, disorders of sweating...

2010
Gérard Said

Diabetic neuropathy is the most common neuropathy in industrialized countries, and it is associated with a wide range of clinical manifestations. The vast majority of patients with clinical diabetic neuropathy have a distal symmetrical form of the disorder that progresses following a fiber-lengthdependent pattern, with sensory and autonomic manifestations predominating. This pattern of neuropat...

2016
Duygu Ofluoglu Nazli Altin Elif Yaman Elif Bahar Tuna İnce Zeynep Aytepe Hakki Tanyeri

Hereditary sensory and autonomic neuropathies (HSAN) are rare genetic syndromes of unknown etiology. They are seen in early childhood and are categorized into six different types by their symptoms. HSAN type 4 demonstrates autosomal recessive transmission pattern, with such major characteristics as loss of sense of pain, self-mutilation, anhydrosis and mental retardation. Sympathetic innervatio...

Journal: :Deutsches Aerzteblatt Online 2018

Journal: :Neurology 2002
M-C Chiang Y-H Lin C-L Pan T-J Tseng W-M Lin S-T Hsieh

The authors evaluated epidermal nerve density (END) and thermal thresholds in 18 patients with chronic inflammatory demyelinating polyneuropathy (CIDP). END of patients with CIDP were lower than those of controls (4.5 +/- 2.9 vs 10.5 +/- 3.9 fibers/mm, p < 0.001). Reduced END were associated with autonomic symptoms. Thermal thresholds of patients with CIDP were elevated (88.2% for warm stimuli ...

Journal: :AANA journal 2013
Laura M Parrott

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...

Journal: :Journal of Clinical & Medical Case Reports 2014

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