Results 21 to 30 of about 8,700 (250)

Congenital insensitivity to pain [PDF]

open access: yesThe Journal of Bone and Joint Surgery. British volume, 2002
We reviewed 13 patients with congenital insensitivity to pain. A quantitative sweat test was carried out in five and an intradermal histamine test in ten. DNA examination showed specific mutations in four patients. There were three clinical presentations: type A, in which multiple infections occurred (five patients); type B, with fractures, growth ...
E, Bar-On   +5 more
openaire   +2 more sources

Case report of a 7-year-old CIPA child with multiple debridement's and amputations.

open access: yesInternational Journal of Endorsing Health Science Research, 2021
Background: Congenital Insensitivity to Pain (CIPA), otherwise known as Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV), is a rarely occurring autosomal recessive disorder encompassed by a group of hereditary and sensory autonomic ...
Syed Ali Haider Zaidi   +7 more
doaj   +1 more source

A Systematic Review of Congenital Insensitivity to Pain, a Rare Disease [PDF]

open access: goldJ Pers Med
Rodríguez-Blanque R   +6 more
europepmc   +3 more sources

Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain. [PDF]

open access: yes, 2016
BACKGROUND: Congenital insensitivity to pain (CIP) is a rare extreme phenotype characterised by an inability to perceive pain present from birth due to lack of, or malfunction of, nociceptors.
Ahmed, Mushtaq   +7 more
core   +9 more sources

Phenotypes and Genotypes in Five Children with Congenital Insensitivity to Pain with Anhidrosis

open access: hybridPediatric Neurology, 2016
Qing-Li Wang   +6 more
openalex   +3 more sources

Congenital Insensitivity to Pain with Anhidrosis (CIPA) Syndrome; A Rare Genetic Disorder Case Story

open access: yesCase 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

Loss of Prdm12 during development, but not in mature nociceptors, causes defects in pain sensation

open access: yesCell Reports, 2021
Summary: Prdm12 is a key transcription factor in nociceptor neurogenesis. Mutations of Prdm12 cause congenital insensitivity to pain (CIP) from failure of nociceptor development.
Mark A. Landy   +4 more
doaj   +1 more source

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