The Israeli National Genetic database: a 10-year experience [PDF]
, 2017 BACKGROUND: The Israeli National and Ethnic Mutation database ( http://server.goldenhelix.org/israeli ) was launched in September 2006 on the ETHNOS software to include clinically relevant genomic variants reported among Jewish and Arab Israeli patients.
Patrinos, G.P. (George P.) +1 more
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Congenital Insensitivity to Pain (HSNA type IV)
Pediatric Neurology Briefs, 2015 Investigators from New York University, NY, studied 14 patients with congenital insensitivity to pain with anhidrosis (CIPA), compared to 10 patients with chronically deficient sympathetic activity (pure autonomic failure), and 15 normal age-matched ...
J Gordon Millichap
doaj +1 more source
Congenital insensitivity to pain and anhidrosis: A case report from South India
Indian Journal of Dermatology, 2012 Congenital insensitivity to pain with anhidrosis, also known as hereditary sensory and autonomic neuropathy type IV, is an autosomal recessive disorder characterized by the congenital lack of pain sensation, inability to sweat, episodes of recurrent ...
Carounanidy Udayashankar +2 more
doaj +1 more source
Congenital Insensitivity to Pain with Anhidrosis (CIPA) Syndrome; A Rare Genetic Disorder Case Story
Case Reports in Clinical Practice, 2022 Congenital insensitivity to pain with anhidrosis (CIPA) is the subtype four of hereditary sensory and autonomic neuropathy (HASN IV), caused by a defect in the NTRK1 gene and presenting early in life.
Zahra Nafei, Marjan Jafari
doaj +1 more source
Congenital insensitivity to pain: How should anesthesia be managed?
The Turkish Journal of Pediatrics, 2017 Congenital insensitivity to pain syndrome is a rare, sensorial and autonomic neuropathy characterized by unexplained fever, insensitivity to pain and anhidrosis.
Özlem Özmete +4 more
doaj +1 more source
A case of hereditary sensory autonomic neuropathy type IV
Annals of Indian Academy of Neurology, 2012 Hereditary sensory autonomic neuropathy type IV (HSAN -IV), also known as congenital insensitivity to pain with anhidrosis, is a very rare condition that presents in infancy with anhidrosis, absence of pain sensation and self -mutilation.
G P Prashanth, Mahesh Kamate
doaj +1 more source
Mutations in TrkA Causing Congenital Insensitivity to Pain with Anhidrosis (CIPA) Induce Misfolding, Aggregation, and Mutation-dependent Neurodegeneration by Dysfunction of the Autophagic Flux [PDF]
, 2016 Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disorder characterized by insensitivity to noxious stimuli and variable intellectual disability (ID) due to mutations in the NTRK1 gene encoding the NGF receptor TrkA ...
Acebo, Paloma +7 more
core +1 more source
Pain: A Necessary Evil? (Anesthetic Management of Congenital Pain Insensitivity Syndrome)
Indian Journal of PainCongenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal disorder. It is characterized by systemic insensitivity to pain, unexplained fever, and psychiatric manifestations.
Swati Keshav Vijapurkar +3 more
doaj +1 more source
Konjenital ağrı duyarsızlık ve anhidrosis sendromu olan iki kardeşin anestezik yönetimi [PDF]
, 2019 Congenital insensitivity to pain with anhidrosis (CIPA) is a rare syndrome characterized by a lack of sensitivity to pain due to congenital sensory and autonomic neuropathies, anhidrosis, an inability to regulate body temperature, growth retardation ...
Destegul, Dilek +2 more
core +1 more source
Insensibilidad congénita al dolor. [PDF]
, 2021 Pain represents a series of chain reactions from whether an extern or intern stimulus as an alert signal for the patient that has suffered damage putting his physical condition at risk.
Buendía-Corona, Ricardo Enrique +1 more
core +2 more sources