Results 11 to 20 of about 8,066 (214)

Vulnerability and Pediatric Pain. [PDF]

Paediatr Neonatal Pain
ABSTRACT Healthcare disparities amplify vulnerabilities in infants and children. In the context of pain, vulnerable individuals are those whose pain often goes under‐appreciated, ‐recognized, or ‐treated. Vulnerability to pain arises due to multiple and interacting sources including inherent vulnerability, situational vulnerability, and pathogenic ...
van Rysewyk S, Harrison D, Harvey A, Ilhan E.   +3 more
europepmc   +2 more sources

CONGENITAL INSENSITIVITY TO PAIN WITH ANHYDROSIS

Gomal Journal of Medical Sciences, 2016
Congenital insensitivity to pain with anhydrosis (CIPA) is a rare genetic disorder characterized by inability to feel pain and temperature, and decreased or absent sweating.
Muhammad shafiq Khan, Aftab Hussain, Muhammad Javed Khan   +2 more
doaj   +1 more source

Congenital insensitivity to pain and anhydrosis syndrome

Indian Dermatology Online Journal, 2018
Isa An, Derya Ucmak
doaj   +3 more sources

Congenital insensitivity to pain [PDF]

The 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, D, Weigl, R, Parvari, K, Katz, R, Weitz, T, Steinberg   +5 more
openaire   +2 more sources

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

, 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, Bennett, Christopher, Chen, Ya-Chun, Sharif, Saghira Malik, Sheridan, Eamonn, Valente, Enza-Maria, Woods, Geoffrey, Zhang, Stella   +7 more
core   +9 more sources

Congenital insensitivity to pain with anhidrosis and compensatory hyperhidrosis

Indian Journal of Paediatric Dermatology, 2021
Hereditary sensory and autonomic neuropathy is a rare syndrome characterized by congenital insensitivity to pain, temperature changes, and an autonomic nerve formation disorder. We report an 8-year-old boy who presented with late-onset of self-mutilating
Aradhana Rout, Sandeep Arora, Shamsher Singh Dalal, Sudeep Kumar   +3 more
doaj   +1 more source

Novel missense mutations contribute to congenital insensitivity to pain: Unexpected correlation between electrophysiological characterization and clinical phenotype

Molecular Pain, 2020
Congenital insensitivity to pain (OMIM 243000) is an extremely rare disorder caused by loss-of-function mutations in SCN9A encoding Nav1.7. Although the SCN9A mutations and phenotypes of painlessness and anosmia/hyposmia in patients are previously well ...
Jiaoli Sun, Lulu Li, Luyao Yang, Guangyou Duan, Tingbin Ma, Ningbo Li, Yi Liu, Jing Yao, Jing Yu Liu, Xianwei Zhang   +9 more
doaj   +1 more source

Anesthetic management of a child with congenital insensitivity to pain with anhidrosis: A case report

Frontiers in Surgery, 2022
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare, autosomal recessive disease classified as hereditary sensory and autonomic neuropathy type VI. Patients with CIPA are characterized by insensitivity to pain, episodes of unexplained fever,
Ying Zhang, Zhiyu Geng
doaj   +1 more source

Exploring CNS Involvement in Pain Insensitivity in Hereditary Sensory and Autonomic Neuropathy Type 4: Insights from Tc−99m ECD SPECT Imaging

Tomography, 2023
Hereditary sensory and autonomic neuropathy type 4 (HSAN4), also known as congenital insensitivity to pain with anhidrosis (CIPA), is a rare genetic disorder caused by NTRK1 gene mutations, affecting nerve growth factor signaling. This study investigates
Cheng-Chun Chiang, Yu-Che Wu, Chiao-Hsin Lan, Kuan-Chieh Wang, Hsuan-Ching Tang, Shin-Tsu Chang   +5 more
doaj   +1 more source

Expansion of the Phenotypic and Genotypic Spectrum for PRKAR1B -Related Marbach-Schaaf Neurodevelopmental Syndrome: A Case Series. [PDF]

Clin Genet
Comprehensive clinical description of 12 subjects with pathogenic PRKAR1B variants, including two heterozygous deletions supporting haploinsufficiency as a possible mechanism of disease, providing valuable insight into the pathophysiology of MASNS and setting a framework upon which to design future mechanistic studies of PKA signaling in brain ...
Burkart S, Guzeloglu T, Soares AR, Valenzuela I, Tizzano EF, Gómez-Andres D, Pasquier L, Legendre M, Berges C, Thevenon J, Gauthier M, Heid C, Ranum E, Shen J, Frees M, Schmidtke MW, Pilar C, Schaaf CP.   +17 more
europepmc   +2 more sources