Dental management of oral self-mutilation in neurological patients : a case of congenital insensitivity to pain with anhidrosis [PDF]
, 2008 Hereditary sensory and autonomic neuropathy type IV is a rare disease characterized by fever episodes, mental retardation of different intensity, recurrent episodes of fever secondary to anhidrosis, little or no perspiration and congenital ...
García Recuero, Ignacio Ismael +3 more
core
Human phenotypes caused by PIEZO1 mutations; one gene, two overlapping phenotypes? [PDF]
, 2018 PIEZO1 is a large mechanosensitive ion channel protein. Diseases associated with PIEZO1 include autosomal recessive Generalised Lymphatic Dysplasia of Fotiou (GLDF) and autosomal dominant Dehydrated Hereditary Stomatocytosis with or without ...
Albuisson +30 more
core +1 more source
Congenital Insensitivity to Pain with Anhidrosis in an Iranian Patient
Basic and Clinical Neuroscience, 2013 Congenital insensitivity to pain with anhidrosis is a rare disease of the nervous system which causes one to lose his/her feeling of pain. The disease is subtype four of hereditary sensory and autonomic neuropathy (HSAN IV) that results from NTRK1 gene ...
Nasrollah Saleh-gohari +1 more
doaj +2 more sources
Congenital Insensitivity to Pain and Anhydrosis: A Report of Two Cases
Journal of Orthopaedic Surgery, 2013 We report on 2 patients with congenital insensitivity to pain and anhydrosis. The first one was a 7-month-old boy who presented with non-traumatic, haematogenous septic dislocation of the right elbow with physeal separation of the distal humerus.
Maharajan Karthikeyan +3 more
doaj +1 more source
Neglected painless wounds in a child with congenital insensitivity to pain
The Pan African Medical Journal, 2014 A 13-year-old boy was brought by his mother for neglected toes wounds. There was a history of self-mutilation from first years of life with absence of normal reaction to painful stimuli. He had scars from injuries and he had self-mutilation of the distal
Ali Akhaddar, Mohamed Malih
doaj +1 more source
A Pain in the Brain: How PACAP CeA Infusion Alters Mechanical and Thermal Sensitivity [PDF]
, 2015 Pain is a universal experience, yet the treatment of pain continues to challenge the medical community. The first step toward treating pain is understanding the underlying neurological mechanisms that lead to the perception of pain.
Huessy, Julia Grace
core +1 more source
Molecular pathophysiology and pharmacology of the voltage-sensing module of neuronal ion channels [PDF]
, 2015 Voltage-gated ion channels (VGICs) are membrane proteins that switch from a closed to open state in response to changes in membrane potential, thus enabling ion fluxes across the cell membranes.
Alessandro eMedoro +7 more
core +2 more sources
Congenital insensitivity to pain with anhidrosis (CIPA): sebuah artikel dan manajemen anestesi [PDF]
, 2022 Ina Karina Putri G. Sugihen
openalex +1 more source
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