Bispectral index monitoring in a patient with combination of congenital insensitivity to pain with anhidrosis (CIPA) and Shwachman–Diamond syndrome
✍ Scribed by Semih Degerli, Seher Altınel, Eyup Horasanlı
- Book ID
- 120914806
- Publisher
- Springer
- Year
- 2013
- Tongue
- English
- Weight
- 318 KB
- Volume
- 28
- Category
- Article
- ISSN
- 0913-8668
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Congenital insensitivity to pain with anhidrosis is an autosomal recessive hereditary disorder characterized by recurrent episodic fever, anhidrosis (inability to sweat), absence of reaction to noxious stimuli, self-mutilating behavior, and mental retardation. The human TRKA gene (NTRK1), located on
Congenital insensitivity to pain with anhidrosis (CIPA), also called hereditary sensory and autonomic neuropathy type IV (HSAN IV), is caused by mutations of the NTRK1 gene coding for the neurotrophic tyrosine kinase receptor type 1. We report the results of the NTRK1 sequence analysis in a CIPA fam