Results 101 to 110 of about 8,066 (214)
Oral self-injuries: clinical findings in a series of 19 patients [PDF]
, 2014 Objectives: Self-injury (SI) is defined as a behavioral disturbance consisting of a deliberate harm to one’s own body without suicidal intent, it is not uncommon and ranges in severity from simple nail-biting to more extreme forms of self-mutilation ...
Campisi, Giuseppina +4 more
core +1 more source
The Israeli National Genetic database: a 10-year experience [PDF]
, 2017 BACKGROUND: The Israeli National and Ethnic Mutation database ( http://server.goldenhelix.org/israeli ) was launched in September 2006 on the ETHNOS software to include clinically relevant genomic variants reported among Jewish and Arab Israeli patients.
Patrinos, G.P. (George P.) +1 more
core +5 more sources
The Turkish Journal of Pediatrics, 1989 Two male siblings born to consanguineous parents, with the diagnosis of congenital insensitivity to pain with anhydrosis are evaluated. The patients presented with unexplained bouts of fever, self-mutilation, repeated trauma and inability to sweat.
R Eker +4 more
doaj
Novel mutations in Chinese patients with congenital insensitivity to pain with anhidrosis
Molecular Pain, 2018 Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disorder, characterized by loss of algesthesis and inability to sweat. CIPA is known to be caused by mutations in the neurotrophic tyrosine kinase receptor type 1 gene (
Xingzhu Geng +7 more
doaj +1 more source
Phenomenal knowledge why: the explanatory knowledge argument against physicalism [PDF]
, 2019 Phenomenal knowledge is knowledge of what it is like to be in conscious states, such as seeing red or being in pain. According to the knowledge argument (Jackson 1982, 1986), phenomenal knowledge is knowledge that, i.e., knowledge of phenomenal facts ...
Mørch, Hedda Hassel
core
Main therapeutic and rehabilitation actions in patients with congenital insensitivity to pain
Universidad Médica Pinareña, 2020 Introduction: congenital insensitivity to pain is a hereditary whose main characteristic is absolute analgesia to pain. Objective: to describe the main existing therapeutic actions for patients with congenital insensitivity to pain in its diverse ...
Noel Jesús Niebla-Gómez +2 more
doaj
Update Review and Clinical Presentation in Congenital Insensitivity to Pain and Anhidrosis
Case Reports in Pediatrics, 2015 Introduction. Congenital insensitivity to pain and anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV is an extremely rare syndrome.
L. M. Pérez-López +4 more
doaj +1 more source
Congenital Insensitivity to Pain: A Case Report and Review of the Literature
Case Reports in Neurological Medicine, 2014 Congenital insensitivity to pain (CIP) is a rare autosomal recessive genetic disease caused by mutations in the SCN9A gene. We report a patient with the clinical features consistent with CIP in whom we detected a novel homozygous G2755T mutation in exon ...
Leema Reddy Peddareddygari +2 more
doaj +1 more source
Congenital Insensitivity to Pain [PDF]
Journal of the Royal Society of Medicine, 1991 openaire +2 more sources
Catecholamines and congenital pain insensitivity.
Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas, 1985 The congenital pain insensitivity syndrome is accompanied by: a) the presence of a yellow-brown pigment in the basal layer of the epidermis with the histochemical properties of melanin, b) decrease of urinary and blood concentration of dopamine and norepinephrine, c) excretion of melanin and of an abnormal as yet unidentified phenolic metabolite, d ...
I, Raw, B J, Schmidt, J, Merzel
openaire +1 more source