Results 141 to 150 of about 86,700,063 (188)

A novel NTRK1 splice site variant causing congenital insensitivity to pain with anhidrosis in a Chinese family. [PDF]

Front Genet
Sun L, Dai J, Zhang Y, Zhou L, Ren Y, Wang H.   +5 more
europepmc   +1 more source

Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literature. [PDF]

Mol Genet Genomic Med
Cho JH, Hwang S, Kwak YH, Yum MS, Seo GH, Koh JY, Ju YS, Yoon JH, Kang M, Do HS, Kim S, Kim GH, Bae H, Lee BH.   +13 more
europepmc   +1 more source

Congenital insensitivity to pain with anhidrosis: a literature review and the advocacy for stem cell therapeutic interventions. [PDF]

Ther Adv Rare Dis
Ikrama M, Usama M, Haider MH, Israr S, Humayon M.   +4 more
europepmc   +1 more source

Optical genome mapping identifies a homozygous deletion in the non-coding region of the SCN9A gene in individuals from the same family with congenital insensitivity to pain. [PDF]

Front Genet
Boughalem A, Ciorna-Monferrato V, Sloboda N, Guegan A, Page F, Zimmer S, Benazra M, Kleinfinger P, Lohmann L, Valduga M, Receveur A, Martin F, Trost D.   +12 more
europepmc   +1 more source

[Case of congenital pain insensitivity].

Wiadomosci lekarskie (Warsaw, Poland : 1960), 1984
J, Kwasucki, A, Szczudlik, B, Zaleska
openaire   +1 more source

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Congenital Insensitivity to Pain: A Misnomer

Journal of Pain, 2019
Congenital insensitivity to pain is an umbrella term used to describe a group of rare genetic diseases also classified as hereditary sensory autonomic neuropathies. These conditions are intriguing, with the potential to shed light on the poorly understood relationship concerning nociception and the experience of pain.
Youssef Masharawi, John Quintner, Asaf Weisman   +2 more
exaly   +3 more sources

Calcaneal ulcer in a child with congenital insensitivity to pain syndrome

Scandinavian Journal of Plastic and Reconstructive Surgery and Hand Surgery, 2005
Congenital insensitivity to pain with anhidrosis ( CIPA) is a rare hereditary sensory neuropathy, comprising congenital insensitivity to pain, anhidrosis, and mental retardation.
Gokhan Tuncbilek
exaly   +2 more sources

Congenital insensitivity to pain with anhidrosis

Pediatric Neurology, 2001
Congenital insensitivity to pain with anhidrosis is an autosomal-recessive disorder resulting from defective neural crest differentiation with loss of the first-order afferent system, which is responsible for pain and temperature sensation. There is also a neuronal loss in the sympathetic ganglia. Lack of sweating, hyperthermia, and infections of bones
L, Sztriha, G G, Lestringant, J, Hertecant, P M, Frossard, I, Masouyé   +4 more
openaire   +2 more sources

Congenital Insensitivity to Pain

Journal of Pediatric Orthopaedics B, 1996
We report two children in one family with congenital insensitivity to pain, anhidrosis, and mental retardation with behavioural disturbance. Orthopaedic manifestations of this condition include recurrent fractures, osteomyelitis, and neuropathic joints. The differential diagnoses and difficulties in the management of this rare disorder are discussed.
R S, Kuo, M F, Macnicol
openaire   +2 more sources

Congenital Insensitivity to Pain

The Meducator, 2018
Pain is an essential sensation that has developed in complex organisms as an evolutionary mechanism to signal impending danger. Without pain, day-to-day functions become incredibly compromised. Pain is responsible for triggering the adoption of protective behaviours, such as physical withdrawal from painful stimuli to for tissue protection.
Deeksha Kundapur, Sheila Yu, Sylvia Mohanraj   +2 more
openaire   +2 more sources