Results 11 to 20 of about 3,826 (210)

A novel treatment strategy with hyperbaric oxygen of chronic osteomyelitis and pseudoarthrosis in a child with congenital hereditary sensory and autonomic neuropathy type 4 congenital insensitivity to pain with anhidrosis syndrome: a case report [PDF]

Journal of Medical Case Reports
Background Congenital insensitivity to pain with anhidrosis is a rare but devastating hereditary disease. Congenital insensitivity to pain with anhidrosis is caused by a mutation in the neurotrophic receptor tyrosine kinase 1 gene (NRTK1).
Anders Kjellberg, Rebecca Gustafsson, Pavel Antonsson, Henrik Hedelin   +3 more
doaj   +2 more sources

PROGRESSIVE ISOLATED PARTIAL ANHIDROSIS [PDF]

Medical Journal Armed Forces India, 1998
Plk, DE Sylva, K M, Shah, C C, Varma
openaire   +4 more sources

Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literature [PDF]

Molecular Genetics & Genomic Medicine
Background Congenital insensitivity to pain with anhidrosis (CIPA) is an extremely rare autosomal recessive disorder caused by loss‐of‐function mutations of the NTRK1 gene, affecting the autonomic and sensory nervous system.
Jun Hee Cho, Soojin Hwang, Yoon Hae Kwak, Mi‐Sun Yum, Go Hun Seo, June‐Young Koh, Young Seok Ju, Ji‐Hee Yoon, Minji Kang, Hyo‐Sang Do, Soyoung Kim, Gu‐Hwan Kim, Hyunwoo Bae, Beom Hee Lee   +13 more
doaj   +2 more sources

Phenotypic heterogeneity of intellectual disability in patients with congenital insensitivity to pain with anhidrosis: A case report and literature review

Journal of International Medical Research, 2018
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive heterogeneous disorder mainly caused by mutations in the neurotrophic tyrosine receptor kinase 1 gene ( NTRK1 ) and characterized by insensitivity to noxious stimuli ...
Jiaqi Liu, Gang Liu, Yuzhi Zuo
exaly   +2 more sources

Anhidrosis e hipopigmentación cutánea

Revista Cubana de Medicina, 2000
Se presentó un hombre de 26 años con anhidrosis generalizada, en el cual la histología de las glándulas sudoríparas era normal. Se comprobó que tenía además, una hipopigmentación de la piel en las zonas anhidróticas y arreflexia osteotendinosa ...
Jesús Pérez Nellar, Claudio E. Scherle Matamoros   +1 more
doaj   +1 more source

Raising awareness through a case of recurrent fractures in a child with congenital insensitivity to pain and anhidrosis in Saudi Arabia. [PDF]

Ewha Med J
Aldosari A, Almokhtar A, Bukhary H, Sharaf R, Alhomayani K.   +4 more
europepmc   +2 more sources

Phenotypes and Genotypes in Five Children with Congenital Insensitivity to Pain with Anhidrosis

Pediatric Neurology, 2016
Jing Yu Liu, Xian-Wei Zhang
exaly   +2 more sources

Case Report: Acquired Generalized Anhidrosis Caused by Brain Tumor: Review of the Literature

Frontiers in Endocrinology, 2022
PurposeThere has been limited focus on sweating failure in patients with brain tumor. We report two patients with generalized anhidrosis caused by germinoma. We also review previous reports of generalized anhidrosis due to brain tumor.Case ReportsPatient
Kohei Kawahara, Yasuto Shimomura, Yuichiro Oshima, Tadashi Watanabe, Toshinori Hori, Akihisa Okumura, Hideyuki Iwayama   +6 more
doaj   +1 more source

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

Expert Review of Neurotherapeutics, 2010
Yasuhiro Indo
exaly   +3 more sources

Manifestaciones clínicas de la insensibilidad congénita al dolor con anhidrosis

Salud Uninorte, 2020
Introducción: La insensibilidad congénita al dolor con anhidrosis (HSAN IV o CIPA) es una enfermedad rara con sintomatologia multisistémica, que impacta el funcionamiento cognitivo, y afecta negativamente la calidad de vida los pacientes y sus familias.
YANIN ELENA SANTOYA MONTES, PEDRO PUENTES ROZO   +1 more
doaj   +1 more source