نتایج جستجو برای: hereditary sensory and autonomic neuropathies

تعداد نتایج: 16848591  

Journal: :European journal of medical and health sciences 2023

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...

Marzye Mohammadi-Anaie, Nasrollah Saleh-gohari,

Congenital insensitivity to pain with anhidrosis is a rare disease of the nervous system which causes one to lose his/her feeling of pain. The disease is subtype four of hereditary sensory and autonomic neuropathy (HSAN IV) that results from NTRK1 gene defect. Direct sequencing was performed to screen NTRK1 for mutations. The result revealed a homozygous deletion of adenine on intron 14 that ma...

Journal: :The Journal of biological chemistry 2012
Yongwoo Jang Jooyoung Jung Hyungsup Kim Jungeun Oh Ji Hyun Jeon Saewoon Jung Kyung-Tai Kim Hawon Cho Dong-Jin Yang Sung Min Kim In-Beom Kim Mi-Ryoung Song Uhtaek Oh

Spinal muscular atrophy and hereditary motor and sensory neuropathies are characterized by muscle weakness and atrophy caused by the degenerations of peripheral motor and sensory nerves. Recent advances in genetics have resulted in the identification of missense mutations in TRPV4 in patients with these hereditary neuropathies. Neurodegeneration caused by Ca(2+) overload due to the gain-of-func...

زهرا شعبان نژاد خاص, , محمد رضا مهاجری تهرانی, , محمد پژوهی, ,

Background: Diabetic neuropathy is an incapacitating disease that afflicts almost 50 percent of patients with diabetes. A late finding in type 1 diabetes, diabetic neuropathy can be an early finding in non insulin-dependent diabetes. Diabetic neuropathies are divided primarily into two groups, sensorimotor and autonomic. Patients may acquire only one type of diabetic neuropathy or may present w...

Journal: :Brain : a journal of neurology 2014
Christian A Hübner Ingo Kurth

Neurons with long projections are particularly liable to damage, which is reflected by a large group of hereditary neurodegenerative disorders that primarily affect these neurons. In the group of hereditary spastic paraplegias motor axons of the central nervous system degenerate, while distal pure motor neuropathies, Charcot-Marie-Tooth disorders and the group of hereditary sensory and autonomi...

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...

Journal: :Iranian journal of child neurology 2016
Mohaddeseh Azadvari Seyedeh Zahra Emami Razavi Shahrbanoo Kazemi

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...

Journal: :Anesthesia and analgesia 2004
Ming-Chang Kao Shen-Kou Tsai Mei-Yung Tsou Hsien-Kuang Lee Wan-Yuo Guo Jenkin S Hu

We report a case of permanent paraplegia in an 81-yr-old patient who had thoracic epidural catheterization performed under general anesthesia for abdominal surgery. The epidural needle was introduced at the T9-10 interspace, and 3 passes were made to locate the epidural space with the loss-of-resistance-to-air technique. During the postoperative epidural pump infusion, the patient was unaware o...

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