Results 21 to 30 of about 8,115 (216)

Total hip arthroplasty in a patient with congenital insensitivity to pain: a case report

Journal of Medical Case Reports, 2012
Introduction Congenital insensitivity to pain, a rare neurological entity, is characterized by varying degrees of sensory loss and autonomic dysfunction. Orthopedic manifestations of congenital insensitivity to pain include delayed diagnosis of fractures,
Erdil Mehmet, Bilsel Kerem, Imren Yunus, Ceylan Hasan, Tuncay Ibrahim   +4 more
doaj   +1 more source

Linkage between increased nociception and olfaction via a SCN9A haplotype [PDF]

, 2013
Background and Aims: Mutations reducing the function of Nav1.7 sodium channels entail diminished pain perception and olfactory acuity, suggesting a link between nociception and olfaction at ion channel level.
Doehring, Alexandra, Heimann, Dirk, Hummel, Thomas, Lötsch, Jörn, Oertel, Bruno Georg   +4 more
core   +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

Congenital insensitivity to pain: How should anesthesia be managed?

The Turkish Journal of Pediatrics, 2017
Congenital insensitivity to pain syndrome is a rare, sensorial and autonomic neuropathy characterized by unexplained fever, insensitivity to pain and anhidrosis.
Özlem Özmete, Mesut Şener, Çağla Bali, Esra Çalışkan, Anış Arıboğan   +4 more
doaj   +1 more source

Case report of a 7-year-old CIPA child with multiple debridement's and amputations.

International Journal of Endorsing Health Science Research, 2021
Background: Congenital Insensitivity to Pain (CIPA), otherwise known as Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV), is a rarely occurring autosomal recessive disorder encompassed by a group of hereditary and sensory autonomic ...
Syed Ali Haider Zaidi, Sufyan Razak, Syeda Kiran Fatima, Hafiz Abdul Wase, Syed Mohammad Haider Zaidi, Zeeshan Yousuf, Farah Naz, Bilal Yousuf   +7 more
doaj   +1 more source

The “pain matrix” in pain-free individuals [PDF]

, 2016
Human functional imaging provides a correlative picture of brain activity during pain. A particular set of central nervous system structures (eg, the anterior cingulate cortex, thalamus, and insula) consistently respond to transient nociceptive stimuli ...
Iannetti, Gian Domenico, Liang, Meng, Salomons, Tim V., Wood, John N.   +3 more
core   +1 more source

Anesthetic management during adenotonsillectomy for twins with congenital insensitivity to pain with anhidrosis: two case reports

Journal of Medical Case Reports, 2017
Background Congenital insensitivity to pain with anhidrosis is a rare autosomal recessive disorder characterized by hyperpyrexia, anhidrosis, pain insensitivity, self-inflicted injuries, and intellectual disability.
Cong Wang, Xianwei Zhang, Shanna Guo, Jiaoli Sun, Ningbo Li   +4 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

Genetics update: monogenetics, polygene disorders and the quest for modifying genes [PDF]

, 2018
The genetic channelopathies are a broad collection of diseases. Many ion channel genes demonstrate wide phenotypic pleiotropy, but nonetheless concerted efforts have been made to characterise genotype-phenotype relationships.
Symonds, Joseph D., Zuberi, Sameer M.
core   +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