Results 31 to 40 of about 8,700 (250)

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   +3 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

Identification and Functional Characterization of Novel and Recurrent NTRK1 Variants in Chinese Families With Congenital Insensitivity to Pain With Anhidrosis: A Combined Clinical, Genetic, and Functional Study

European Journal of Neurology, Volume 33, Issue 5, May 2026.
This study investigates four Chinese families with congenital insensitivity to pain with anhidrosis (CIPA). Through next‐generation sequencing, we identified seven NTRK1 variants, including two novel mutations. Functional characterization of five identified missense and indel variants revealed distinct disruptions in the NGF‐TrkA pathway, ranging from ...
Yaqiong Ren, Yue Cao, Fangfang Cheng, Jin Dai, Yuan Zhang, Xinxin Wang, Jiali Chen, Lijun Zhou, Xiaoxiang Song, Hongying Wang   +9 more
openalex   +2 more sources

Episodic neurologic disorders: syndromes, genes, and mechanisms. [PDF]

, 2013
Many neurologic diseases cause discrete episodic impairment in contrast with progressive deterioration. The symptoms of these episodic disorders exhibit striking variety.
Fu, Ying-Hui, Ptáček, Louis J, Russell, Jonathan F   +2 more
core   +2 more sources

Current evidence for a modulation of low back pain by human genetic variants [PDF]

, 2009
The manifestation of chronic back pain depends on structural, psychosocial, occupational and genetic influences. Heritability estimates for back pain range from 30% to 45%. Genetic influences are caused by genes affecting intervertebral disc degeneration
Aberle, Agarwal, Agrawal, Aladin, Anderson, Andersson, Annunen, Arnold, Ashford, Atkinson, Bandell, Battie, Battie, Bautista, Bejaoui, Berthele, Beyer, Blau, Bond, Brown, Brown, Brown, Campa, Caraco, Carbonell Sala, Carragee, Cascorbi, Cho, Chou, Chou, Cipollone, Collart, Cox, Dalen, Daly, Dawkins, Dayer, Dayer, Diatchenko, Diatchenko, Diatchenko, Dick, Doehring, Eckhardt, Einarsdottir, Fillingim, Foulkes, Fu, Gasche, Goldberg, Grant, Gross, Gursoy, Gutierrez-Roelens, Hamdani, Hartvigsen, Hayashida, Hernandez, Higashino, Hirose, Hoyland, Hummel, Hustmyer, Ikeda, Indo, Irmgard Tegeder, Jayamanne, Jim, Jörn Lötsch, Kales, Kalichman, Karppinen, Karsak, Kawaguchi, Kawaguchi, Kawasaki, Khoromi, Kim, Kim, Kim, Kim, Kirchheiner, Kirchheiner, Klepstad, Knoeringer, Kroslak, Kuisma, Kung, Lafreniere, Landau, Langdahl, Le Maitre, Lee, Lettre, Leyne, Lichtman, Liem, Lorenzo, Lotsch, Lotsch, Lotsch, Lotsch, Lotsch, Lotsch, Lovlie, Lu, Luoma, Lötsch, MacDonald, Macpherson, Madadi, Manning, McNamara, Meeus, Meller, Meller, Mignat, Mio, Miura, Mogil, Mogil, Morrison, Nguyen, Noponen-Hietala, Noponen-Hietala, Oakley, Oertel, Oertel, Oertel, Ofek, Ohtori, Oliveira, Paassilta, Papafili, Pilotto, Pluijm, Poulsen, Racz, Racz, Rakvag, Ralston, Ralston, Reyes-Gibby, Richards, Riviere, Roddier, Romberg, Russo, Sachse, Sakai, Schmidt, Schneider, Seki, Seki, Sindrup, Sipe, Skarke, Skarke, Slade, Slaugenhaupt, Solovieva, Solovieva, Solovieva, Solovieva, Solovieva, Srinivasan, Srinivasan, Stamer, Stamer, Steward, Stohler, Suzuki, Svendsen, Tadic, Takahashi, Tam, Tander, Tegeder, Tegeder, Thieme, Thomas, Trevisani, Uitterlinden, Ujike, van Meurs, Vargas-Alarcon, Verhoeven, Videman, Videman, Virtanen, Voronov, Vree, Wiesinger, Yamada, Yazdanpanah, Zhang, Zhang, Zhang, Zhang, Zubieta, Zuo   +200 more
core   +1 more source

Congenital insensitivity to pain with anhydrosis: report of a family case

The Pan African Medical Journal, 2011
Congenital Insensitivity to pain with anhydrosis (CIPA) is a rare inherited disease. It is classified as hereditary sensory and autonomic neuropathy type IV.
Smael Labib, Mohamed Adnane Berdai, Sanae abourazzak, Mustapha Hida, Mustapha Harandou   +4 more
doaj   +1 more source

A Case Report of Congenital Insensitivity to Pain with Anhidrosis

罕见病研究, 2023
Congenital insensitivity to pain with anhidrosis (CIPA) is associated with Charcot arthropathy and is a rare clinical syndrome, with limited treatment options.
JIAO Yuhao, TIAN Ye, CAI Siyi
doaj   +1 more source

Speech-language findings on pain congenital insensitivity with anhydrosis: case report [PDF]

, 2007
PURPOSE: case report of congenital insensitivity to pain with anhydrosis of a 3-year-old child as well as discussing the speech-language findings, in relation to the aspects of the stomatognathic system, highlighting the process of rehabilitation for ...
Chiappetta, Ana Lúcia de Magalhães Leal, Roza, Rosemere Teixeira   +1 more
core   +3 more sources

A rare case of congenital insensitivity to pain with anhydrosiss

Indian Journal of Pain, 2015
Congenital insensitivity to pain syndrome with anhydrosis (CIPA) is a rare inherited disorder. It is characterized by loss of pain and temperature sensation, lack of sweating and mild mental retardation.
Govardhani Yanamadala, Varaprasad Ussa, Pavani Medisetty, Bhavya Gatte   +3 more
doaj   +1 more source

A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development [PDF]

, 2015
Congenital inability to feel pain is very rare but the identification of causative genes has yielded significant insights into pain pathways and also novel targets for pain treatment.
Al-Gazali, Lihadh, Benn, Caroline L., Borner, Georg H. H., Carvalho, Ofélia P., Chen, Ya-Chun, Hertecant, Jozef, Nahorski, Michael S., Owen, David J., Phelan, Anne, Robinson, Margaret S., Royle, Stephen J., Shaikh, Samiha S., Woods, C. Geoffrey   +12 more
core   +2 more sources