Results 41 to 50 of about 8,700 (250)
Novel SCN9A mutations underlying extreme pain phenotypes: unexpected electrophysiological and clinical phenotype correlations. [PDF]
, 2015 The importance of NaV1.7 (encoded by SCN9A) in the regulation of pain sensing is exemplified by the heterogeneity of clinical phenotypes associated with its mutation.
Cox, James J +6 more
core +3 more sources
Norrbottnian congenital insensitivity to pain
Acta Orthopaedica, 2006 Congenital insensitivity to pain is a rare hereditary neuropathy. We present patients from a large family in Norrbotten, Sweden with a mutation in the nerve growth factor beta gene (NGFbeta). Using a model of recessive inheritance, we identified an 8.3-Mb region on chromosome 1p11.2-p13.2 shared by the affected individuals in the family.
openaire +4 more sources
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 +3 more
core +1 more source
Indian Journal of Ophthalmology, 2021 Purpose: Congenital corneal anesthesia (CCA) is a rare clinical entity that poses a diagnostic dilemma, particularly in the pediatric age group with very little literature on this.
Madhumita Gopal +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 +4 more
core +2 more sources
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 +4 more
doaj +1 more source
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 +5 more
doaj +1 more source
Eosinophilic ulcer of the tongue - Case report. [PDF]
, 2015 Eosinophilic ulcer of the oral mucosa is a rare, self-limiting, chronic and benign lesion of unknown pathogenesis that affects the oral mucosa. We present the case of a 65 year-old Caucasian female with a fivemonth history of a painful ulcer on the ...
Calvieri, Stefano +4 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 +4 more
doaj +1 more source
Joint Attention, Union with God, and the Dark Night of the Soul [PDF]
, 2013 Eleonore Stump has argued that the fulfilment of union between God and human beings requires a mode of relatedness that can be compared to joint attention, a phenomenon studied in contemporary experimental psychology.
Bungum, Donald
core +1 more source