Results 41 to 50 of about 96,208,754 (165)

A case report: Anesthetic management for open-heart surgery in a child with congenital insensitivity to pain with anhidrosis. [PDF]

open access: yesPaediatr Anaesth, 2022
Abstract Congenital insensitivity to pain with anhidrosis (CIPA) is a rare disease also known as hereditary sensory and autonomic neuropathy. CIPA is characterized by a lack of pain sensitivity and impaired development of sweat glands. Surgery is required for patients with self‐mutilation and skeletal developmental disorders.
Jiang J, Wang X, Hu J, Wang S.
europepmc   +2 more sources

Congenital Insensitivity to Pain without Anhidrosis: Orodental Problems and Management [PDF]

open access: yesCase Reports in Dentistry, 2015
This paper reports the case of a 4-year-old male patient who was brought by parents requesting for replacement of multiple missing anterior teeth. The patient suffered from congenital insensitivity to pain without anhidrosis and presented with full blown
N. Abdullah   +2 more
doaj   +2 more sources

Congenital Insensitivity to Pain With Anhidrosis Is Associated With Harlequin Color Change: A Survey Study. [PDF]

open access: yesPediatr Dermatol
ABSTRACT Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy (HSAN) type IV, is an extremely rare autosomal recessive congenital condition characterized by the loss of sensation to pain and absence of sweating with one case report linking this with harlequin color change.
Maazi M, Lam JM.
europepmc   +2 more sources

How Mobile Health Technology Can Help with Health Care of the Congenital Insensitivity to Pain with Anhidrosis (CIPA)? [PDF]

open access: yesTaṣvīr-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]

open access: yesTürk 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

Could Congenital Insensitivity to Pain with Anhidrosis Be Misdiagnosed as Papillon-Lefèvre Syndrome? [PDF]

open access: yesJ Pediatr Genet, 2017
Papillon–Lefèvre syndrome (PLS) is a rare autosomal recessive disorder characterized by early loss of teeth with hyperkeratosis of the palms and soles.
Mostafa MI   +3 more
europepmc   +2 more sources

Sudden onset anhidrosis in an otherwise healthy male

open access: yesSkin 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

Congenital insensitivity to pain and anhidrosis

open access: yesIndian Journal of Orthopaedics, 2011
Congenital insensitivity to pain and anhidrosis (CIPA) is a rare reported entity characterised by disturbance in the pain and temperature perception due to involvement of the autonomic and sensory nervous system. It is an autosomal recessive trait with several defects of the gene NTRK1 coding for the neurotrophic tyrosine kinase - a nerve growth factor
Sasnur, Ashok H   +2 more
openaire   +3 more sources

Nerve growth factor, pain, itch and inflammation: lessons from congenital insensitivity to pain with anhidrosis [PDF]

open access: yes, 2010
application/pdfapplication/pdf論文(Article)NGF is a well-known neurotrophic factor essential for the survival and maintenance of primary afferent neurons and sympathetic neurons.
インドウ, ヤスヒロ   +4 more
core   +2 more sources

The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment

open access: yesNeuropathology 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

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