Results 81 to 90 of about 1,211 (180)

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

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

Oral Rehabilitation in Patient With Hereditary Sensory and Autonomic Neuropathy (HSAN) Type V: Clinical Report

Case Reports in Dentistry, Volume 2025, Issue 1, 2025.
Hereditary sensory and autonomic neuropathies (HSANs) are rare inheritable syndromes of unknown etiology. They typically appear in early childhood and are categorized into six different types based on their symptoms. HSAN‐V is characterized by loss of pain and thermal perception, Charcot joints, painless fractures, scoliosis, oral lesions, and absent ...
Sana Lala, Ammar Almustafa, Leandro Napier De Souza   +2 more
wiley   +1 more source

A case report and insightful review of congenital insensitivity to pain with anhidrosis [PDF]

We present a case of a 9-month-old male, born to a third-degree consanguineous marriage, presenting with a month-long history of mild to moderate fever occurring 3-4 times daily.
Mathews, Aswathy, Prazad, Amal
core   +2 more sources

c.1810C>T Polymorphism of Gene is associated with reduced Survival in Neuroblastoma Patients [PDF]

, 2009
Background TrkA (encoded by NTRK1 gene), the high-affinity tyrosine kinase receptor for neurotrophins, is involved in neural crest cell differentiation.
Beata S Lipska, Elżbieta Drożynska, Paola Scaruffi, Gian Paolo Tonini, Ewa Iżycka-Świeszewska, Szymon Ziętkiewicz, Anna Balcerska, Danuta Perek, Alicja Chybicka, Wojciech Biernat, Janusz Limon   +10 more
core   +1 more source

Principales acciones terapéuticas y rehabilitadoras en pacientes con insensibilidad congénita al dolor [PDF]

, 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 subtypes.
García-Alfonso de Armas, Tamara Libertad, Niebla-Gómez, Noel Jesús, Rivero-Morey, Rodolfo Javier   +2 more
core   +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  

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

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