Results 81 to 90 of about 1,252,425 (189)

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

Frontiers in Genetics
We report an index patient with complete insensitivity to pain and a history of painless fractures, joint hypermobility, and behavioral problems. The index patient descends from a family with notable cases among his maternal relatives, including his aunt
Aïcha Boughalem, Viorica Ciorna-Monferrato, Natacha Sloboda, Amélie Guegan, François Page, Sophie Zimmer, Marion Benazra, Pascale Kleinfinger, Laurence Lohmann, Mylène Valduga, Aline Receveur, Fernando Martin, Detlef Trost   +12 more
doaj   +1 more source

Main therapeutic and rehabilitation actions in patients with congenital insensitivity to pain

Universidad Médica Pinareña, 2020
Introduction: congenital insensitivity to pain is a hereditary whose main characteristic is absolute analgesia to pain. Objective: to describe the main existing therapeutic actions for patients with congenital insensitivity to pain in its diverse ...
Noel Jesús Niebla-Gómez, Rodolfo Javier Rivero-Morey, Tamara Libertad García-Alfonso de Armas   +2 more
doaj  

Novel mutations in Chinese patients with congenital insensitivity to pain with anhidrosis

Molecular Pain, 2018
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disorder, characterized by loss of algesthesis and inability to sweat. CIPA is known to be caused by mutations in the neurotrophic tyrosine kinase receptor type 1 gene (
Xingzhu Geng, Yanshan Liu, XiuZhi Ren, Yun Guan, Yanzhou Wang, Bin Mao, Xiuli Zhao, Xue Zhang   +7 more
doaj   +1 more source

Update Review and Clinical Presentation in Congenital Insensitivity to Pain and Anhidrosis

Case Reports in Pediatrics, 2015
Introduction. Congenital insensitivity to pain and anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV is an extremely rare syndrome.
L. M. Pérez-López, M. Cabrera-González, D. Gutiérrez-de la Iglesia, S. Ricart, G. Knörr-Giménez   +4 more
doaj   +1 more source

Congenital Insensitivity and Indifference to Pain: A Scoping Review Protocol

A scoping review protocol on congenital insensitivity and indifference to ...
Don Daniel Ocay, Charles Berde, Jean Solodiuk, Abid Haque   +3 more
core  

Congenital Insensitivity to Pain and Anhidrosis With Orthopedic and Self‐Injury Complications in a 5‐Year‐Old Boy: A Case Report

Clinical Case Reports
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disorder because of NTRK1 gene mutations, leading to an inability to perceive pain and temperature and lack of sweating. Its rarity and unique clinical challenges, such
Zubair Amin, Humza Saeed, Syed Imam Naufil, Sadaf Saba, Abdullah Imtiaz, Syed Hassan Akhlaq, Muhammad Husnain Ahmad, Masab Ali   +7 more
doaj   +1 more source

Congenital Insensitivity to Pain [PDF]

Journal of the Royal Society of Medicine, 1991
openaire   +2 more sources

Congenital insensitivity to pain with anhidrosis

Journal of Pediatric Neurosciences, 2012
Dias, Edwin, Charki, Siddu
openaire   +4 more sources

Plenary Abstracts Session & Oral Presentations

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Poster Sessions

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source