نتایج جستجو برای: hsan type iv

تعداد نتایج: 1486865  

2009
Annelies Rotthier Jonathan Baets Els De Vriendt An Jacobs Michaela Auer-Grumbach Nicolas Lévy Nathalie Bonello-Palot Sara Sebnem Kilic Joachim Weis Andrés Nascimento Marielle Swinkels Moyo C. Kruyt Albena Jordanova Peter De Jonghe Vincent Timmerman

Hereditary sensory and autonomic neuropathies (HSAN) are clinically and genetically heterogeneous disorders characterized by axonal atrophy and degeneration, exclusively or predominantly affecting the sensory and autonomic neurons. So far, disease-associated mutations have been identified in seven genes: two genes for autosomal dominant (SPTLC1 and RAB7) and five genes for autosomal recessive f...

Journal: :Journal of neurology, neurosurgery, and psychiatry 1999
F Stögbauer P Young G Kuhlenbäumer R Kiefer V Timmerman E B Ringelstein J F Wang J M Schröder C Van Broeckhoven J Weis

Familial burning feet syndrome inherited as an autosomal dominant trait has been described in only one family. Due to an associated sensory neuropathy the autosomal dominant burning feet syndrome was suggested to represent a variant form of hereditary sensory and autonomic neuropathy type I (HSAN I). Clinical, histopathological, and molecular genetic studies were performed in a large German kin...

1995
Carlangelo Liverani CARLANGELO LIVERANI

A unified approach to obtaining the central limit theorem for hyperbolic dynamical systems is presented. It builds on previous results for one dimensional maps but it applies to the multidimensional case as well. CONTENT 0. Introduction . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . p. 2 1. A general probabilistic result . . . . ....

2016
Lars Johannesen Jose Vicente Meisam Hosseini David G. Strauss

BACKGROUND Prolongation of the heart rate corrected QT (QTc) interval is a sensitive marker of torsade de pointes risk; however it is not specific as QTc prolonging drugs that block inward currents are often not associated with torsade. Recent work demonstrated that separate analysis of the heart rate corrected J-Tpeakc (J-Tpeakc) and Tpeak-Tend intervals can identify QTc prolonging drugs with ...

Journal: :Revista brasileira de anestesiologia 2009
Carlos Rogério Degrandi Oliveira Valter César Paris Renato Augusto Pereira Felipe Souza Thyrso de Lara

BACKGROUND AND OBJECTIVES Congenital insensitivity to pain and Anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV (HSAN IV) is a rare autosomal recessive neuropathy of the group of hereditary sensory and autonomic neuropathies (HSAN) characterized by insensitivity to pain, anhidrosis, and mental retardation. Since it is a rare condition, reports on the anesthetic conduct i...

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...

2014

Neurophysiology. Nerve growth factor (NGF) is a neurotropic factor essential for the survival and maintenance of NGF-dependent neurons. NGF-dependent neurons include NGF-dependent primary afferents and sympathetic postganglionic neurons in the peripheral nervous system (PNS). NGF-dependent neurons in the PNS form an interface between the nervous system and the body-proper (the organism minus th...

2002
S. L. Woronowicz

The notions of the crossed product and the braided category are discussed within the theory of C∗-algebras. Like in the purely algebraic approach of S. Majid these notions are used to generalize the quantum group theory. We give an example of a braided group. It coincides with the closed subset C = {z : |z| = . . . , q−2, q−1, 1, q, q2, . . . , 0} of the complex plane equipped with the q2braidi...

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