Results 51 to 60 of about 1,211 (180)

Congenital insensitivity to pain with anhidrosis: a case report [PDF]

Journal of Korean Medical Science, 1999
Congenital insensitivity to pain with anhidrosis (CIPA) is a very rare genetic disorder of the peripheral nervous system characterized by recurrent episodes of unexplained fever, generalized anhidrosis, insensitivity to pain and temperature, and accompanied by self-mutilating behavior and mental retardation.
J S, Kim, Y J, Woo, G M, Kim, C J, Kim, J S, Ma, T J, Hwang, M C, Lee   +6 more
openaire   +2 more sources

Complete uniparental disomy of chromosome 1 in a child with isolated developmental delay

Clinical Case Reports, Volume 10, Issue 7, July 2022., 2022
Abstract Complete uniparental disomy of chromosome 1 (UPD1) is an uncommon genetic finding about which a specific phenotype has not yet been established. We present a boy who has complete paternal UPD1 and isolated developmental delay and suggest that there is no clear phenotype of UPD1.
Violet Wallerstein, Leon Grant, Robert Wallerstein   +2 more
wiley   +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

A Case Report of Congenital Insensitivity to Pain and Anhidrosis (CIPA) [PDF]

, 2012
How to Cite this Article: Karimi M, Fallah R. A Case Report of Congenital Insensitivity to Pain and Anhidrosis (CIPA). Iran J Child Neurol 2012; 6(3): 45-48.
FALLAH, Razieh, KARIMI, Mehran
core   +3 more sources

Human TrkAR649W mutation impairs nociception, sweating and cognitive abilities: a mouse model of HSAN IV [PDF]

, 2022
A functional nerve growth factor (NGF)-TrkA system is an essential requisite for the generation and maintenance of long-lasting thermal and mechanical hyperalgesia in adult mammals.
Amodeo, Rosy, Arevalo, Juan Carlos, Capsoni, Simona, Cattaneo, Antonino, Convertino, Domenica, Costa, Mario, Mainardi, Marco, Marchetti, Laura, Pacifico, Paola, Testa, Giovanna, Tiberi, Alexia   +10 more
core   +3 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

Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine [PDF]

, 2017
BACKGROUND: Human Phenotype Ontology (HPO) has risen as a useful tool for precision medicine by providing a standardized vocabulary of phenotypic abnormalities to describe presentations of human pathologies; however, there have been relatively few ...
Fang, H., Jimenez-Barron, L. T., Lyon, G. J., Mittelman, D., Robison, R., Wang, K., Wu, Y., Yang, H., Yoon, M.   +8 more
core   +1 more source

NGF – the TrkA to successful pain treatment [PDF]

, 2012
Chronic pain arising from various pathological conditions such as osteoarthritis, low back or spinal injuries, cancer, and urological chronic pelvic pain syndromes presents significant challenges in diagnosis and treatment.
Kumar, Vinayak, Mahal, Brandon
core   +1 more source

Understanding Hereditary Sensory and Autonomic Neuropathy type IV through a novel knock-in mouse model [PDF]

, 2023
in pain sensation. Indeed, a functional NGF-TrkA system is an essential requisite for the generation and maintenance of long-lasting thermal and mechanical hyperalgesia in adult mammals.
PACIFICO, Paola
core   +1 more source

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies. [PDF]

, 2023
Congenital insensitivity to pain (CIP) and hereditary sensory and autonomic neuropathies (HSAN) are clinically and genetically heterogeneous disorders exclusively or predominantly affecting the sensory and autonomic neurons.
Abele, Michael, Auer-Grumbach, Michaela, Baets, Jonathan, Baineni, Revanth, Begemann, Matthias, Beijer, Danique, Bennett, David L, Biswal, Niranjan, Bolgül, Behiye S, Bonduelle, Maryse, Bonello-Palot, Nathalie, Bris, Céline, Chiabrando, Deborah, Cox, James J, Dahl, Georg, de Winter, Jonathan, Debus, Karlien Y, Devassikutty, Fiji M, Dey, Daniela, Dohrn, Maike F, Doriqui, Maria J Rodovalho, Dufke, Andreas, Eggermann, Katja, Eggermann, Thomas, Elbracht, Miriam, Feely, Shawna ME, Gess, Burkhard, Gläser, Dieter, Govindaraj, Geeta M, Haack, Tobias B, Hornemann, Thorsten, Hübner, Christian A, Ibarra-Ramírez, Marisol, Jagadeesh, Sujatha, Junior, Wilson Marques, Kraft, Florian, Kurth, Ingo, Lampert, Angelika, Laura, Matilde, Laššuthová, Petra, Leipold, Enrico, Lischka, Annette, Martin, Madelena, Mazanec, Radim, Mercier, Sandra, Mochel, Fanny, Müller-Felber, Wolfgang, Nalini, Atchayaram, Nampoothiri, Sheela, Parman, Yesim, Procaccio, Vincent, Record, Christopher J, Reddy, Vaishnavi, Reilly, Mary M, Rossor, Alexander M, Sasidharan, Karthika, Schulz, Jörg B, Seeman, Pavel, Senderek, Jan, Shy, Michael, Siddiqi, Saima, Singhi, Pratibha, Skorupinska, Mariola, Spranger, Stephanie, Stucka, Rolf, Suresh, Beena, Suthar, Renu, Sánchez, Juan Romero, Themistocleous, Andreas C, Timmerman, Vincent, Tomaselli, Pedro J, Udani, Vrajesh, Ullah, Noor, Ungelenk, Martin, Unnikrishnan, Gopikrishnan, Van Lent, Jonas, Vill, Katharina, Wood, John N, Woods, C Geoffrey, Züchner, Stephan, Çakar, Arman, Šoukalová, Jana   +81 more
core   +8 more sources