Results 81 to 90 of about 1,205 (182)

A rare case of congenital corneal anesthesia

Medical Journal of Dr. D.Y. Patil Vidyapeeth, 2023
A 12-year-old male, who had a history of trauma in his right eye at 2 years of age, presented to the clinic with diminution of vision and whitish discoloration in his right eye.
Kunj Naik, Aditya Ganesh Garlapati, Shailaja Anand, Renu Magdum, Nilay Dhore   +4 more
doaj   +1 more source

Roots and fates of congenital insensitivity to pain and anhidrosis: a human phenotype [PDF]

Congenital insensitivity to pain is a rare neurological disorder characterized by the inability to perceive physical pain. Individuals with CIP lack the typical nociceptive responses to harmful stimuli, which poses significant challenges to their safety ...
D. R., Thanushree, George, Robin, K. S., Surabhi, R. K., Rosheni, S. H., Fiza   +4 more
core   +2 more sources

Congenital insensitivity to pain with anhidrosis

Journal of the Pakistan Medical Association
Congenital Insensitivity to Pain with Anhidrosis (CIPA) is characterised by disruption of sensory neurons caused by genetic mutations in the Neurotrophic Tyrosine Kinase 1 (NTRK1) gene which leads to impaired pain sensation, accompanied by anhidrosis (the inability to sweat) and varying degrees of intellectual disability.
Meher Ayyazuddin, Nushra Maqsood, Saman Khan, null Muhammad Ali, Spenta Kakalia   +4 more
openaire   +1 more source

Congenital insensitivity to pain associated with PRDM12 mutation: Two case reports and a literature review

Frontiers in Genetics, 2023
Background:PRDM12 is a newly discovered gene responsible for congenital insensitivity to pain (CIP). Its clinical manifestations are various and not widely known.Methods: The clinical data of two infants diagnosed with CIP associated with PRDM12 mutation
Hanrui Yu, Hanrui Yu, Jie Wu, Jinju Cong, Mingxiong Chen, Yifei Huang, Jifeng Yu, Liqiang Wang   +7 more
doaj   +1 more source

A novel mutation in the SCN9A gene associated with congenital insensitivity to pain, anhidrosis, and mild cognitive impairment

Pediatric Dermatology, Volume 41, Issue 1, Page 80-83, January/February 2024.
Abstract Congenital insensitivity to pain (CIP) is a rare phenotype characterized by the inability to perceive pain stimuli with subsequent self‐injuries, whereas CIP associated with anhidrosis (CIPA) is an overlapping phenotype mainly characterized by insensitivity to noxious stimuli and anhidrosis.
Maurizio Romagnuolo, Chiara Moltrasio, Riccardo Cavalli, Michela Brena, Gianluca Tadini   +4 more
wiley   +1 more source

Analysis of pathogenic variants and prenatal genetic diagnosis in families with congenital insensitivity to pain with anhidrosis [PDF]

Jichu yixue yu linchuang
Objective Genetic testing and prenatal diagnosis were conducted in 18 congenital insensitivity to pain with anhidrosis(CIPA)families, laying the foundation for reducing the incidence of CIPA.
CHEN Xin, LI Shuang, JIANG Yulin, REN Xiuzhi, ZHAO Xiuli
doaj   +1 more source

Hyperplastic callus formation in congenital insensitivity to pain: A masquerader of osteosarcoma

Pediatric Hematology Oncology Journal, 2023
Background: Congenital insensitivity to pain (CIP) is a rare genetic disorder characterized by the inability to experience pain. Unrecognized, repeated injuries may result in poorly healed fractures with hyperplastic callus formation, auto-amputation of ...
Maha Anwar, Maha Rashid Malik, Shaarif Bashir, Usman Hassan, Alina Sadaf   +4 more
doaj   +1 more source

Ayurvedic Perspectives on Congenital Insensitivity to Pain with Anhidrosis (CIPA): An Integrative Analysis of Traditional and Contemporary Understanding [PDF]

Congenital insensitivity to pain with anhidrosis (CIPA) represents a rare genetic disorder characterized by complete absence of pain sensation and inability to sweat, primarily attributed to mutations in the NTRK1 gene.
Anurag Mishra, Kavita Tiwari
core   +2 more sources

Identification of founder and novel mutations that cause congenital insensitivity to pain (CIP) in palestinian patients

BMC Medical Genomics, 2023
Background Congenital insensitivity to pain (CIP) is a rare autosomal recessive disorder characterized primarily by an inability to perceive physical pain from birth, resulting in the accumulation of bruising, inflammation, and fractures that affect ...
Boushra Khaled, Mahmoud Alzahayqa, Ahmad Jaffal, Husam Sallam, Rua’a Thawabta, Mamoun Mansour, Akram Alian, Zaidoun Salah   +7 more
doaj   +1 more source

Congenital insensitivity to pain with anhidrosis as a little prevalent disease. Updates for a comprehensive therapeutic approach [PDF]

, 2021
La ICD con anhidrosis está provocada por mutaciones del gen NTRK1 y se caracteriza por ausencia de dolor e incapacidad para sudar. Son importantes algunas consideraciones a tener en cuenta con respecto al manejo de pacientes en procedimientos anestésicos.
Fernández Melgarejo, Laura
core