Results 41 to 50 of about 1,211 (180)
How Mobile Health Technology Can Help with Health Care of the Congenital Insensitivity to Pain with Anhidrosis (CIPA)? [PDF]
Taṣvīr-i salāmat, 2022 Congenital insensitivity to pain with anhidrosis (CIPA) is a rare genetic disease that is inherited as an autosomal recessive, and its cause is a genomic defect in tyrosine kinase; this disorder is mainly characterized by a lack of pain sensation ...
Fatemeh Ameri, Dastani Meisam
doaj +1 more source
A case of congenital insensitivity to pain with anhidrosis [PDF]
Türk Pediatri Arşivi, 2014 To the Editor, Congenital insensitivity to pain with anhidrosis (CIPA) syndrome is a rare autosomal recessive disease which is also known as hereditary sensory and autonomic neuropathy type 4 (1). The prominent characteristics of the disease include fever due to anhidrosis, absence of sense of pain, painless ulcers in the structures inside the mouth
Ahmet Kağan, Özkaya +5 more
openaire +4 more sources
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
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Congenital insensitivity to pain with anhidrosis [PDF]
International Orthopaedics, 1998 PubMedID ...
Herdem M. +3 more
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Sudden onset anhidrosis in an otherwise healthy male
Skin Health and Disease, Volume 3, Issue 4, August 2023., 2023 Sudden onset anhidrosis in an otherwise healthy 59‐year‐old Chinese male who presented to the dermatology department with a 3‐month history of a sudden lack of sweat production after picking up long distance cycling for 2 months Abstract Acquired idiopathic generalised anhidrosis (AIGA) is a rare disorder that is characterised by sudden onset ...
Clara Michelle Tan Hwei Sian Tan +2 more
wiley +1 more source
Hereditary autonomic neuropathy of the oral cavity and its management: A case report [PDF]
, 2022 Hereditary sensory and autonomic neuropathies (HSAN) are rare genetic disorders that often manifest during childhood in the form of absence of pain sensation or self-mutilation.
Ardakani, Hossein Shojaaldini +4 more
core +2 more sources
Speech-language findings on pain congenital insensitivity with anhydrosis: case report [PDF]
, 2007 PURPOSE: case report of congenital insensitivity to pain with anhydrosis of a 3-year-old child as well as discussing the speech-language findings, in relation to the aspects of the stomatognathic system, highlighting the process of rehabilitation for ...
Chiappetta, Ana Lúcia de Magalhães Leal +1 more
core +3 more sources
Neuropathology and Applied Neurobiology, Volume 48, Issue 7, December 2022., 2022 SPTLC1 spectrum disorder ranges from adult onset sensory neuropathy to childhood onset ALS and they are related to perturbed homeostasis of sphingolipids which can betreatable. Mutation of the S331 codon of SPLTC1 gene were related to a separate syndromic phenotype.
Chiara Fiorillo +30 more
wiley +1 more source
Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain. [PDF]
, 2016 BACKGROUND: Congenital insensitivity to pain (CIP) is a rare extreme phenotype characterised by an inability to perceive pain present from birth due to lack of, or malfunction of, nociceptors.
Ahmed, Mushtaq +7 more
core +3 more sources
Understanding pain perception through genetic painlessness diseases: The role of NGF and proNGF. [PDF]
, 2021 Nerve growth factor (NGF), by binding to TrkA and p75(NTR) receptors, regulates the survival and differentiation of sensory neurons during development and mediates pain transmission and perception during adulthood, by acting at different levels of the ...
Antonino Cattaneo +2 more
core +2 more sources