Results 1 to 10 of about 96,208,754 (165)

Congenital Insensitivity to Pain With Anhidrosis: First Reported Case in Nepal [PDF]

Clinical Case Reports (discontinued)
Congenital insensitivity to pain with anhidrosis is a rare autosomal recessive disorder characterized by anhidrosis, self‐mutilation, and insensitivity to pain and temperature.
Sobin Pant, Dibij Adhikari, Prakash Pandey, Binit Bajracharya, Rizuna Sharma   +4 more
exaly   +5 more sources

From the Destruction of Two Lumbar Segments to Thoracic‐Lumbar‐Pelvic Fusion: A Case Caused by Congenital Insensitivity to Pain with Anhidrosis and Literature Review [PDF]

Orthopaedic Surgery, 2023
Background Congenital insensitivity to pain with anhidrosis (CIPA) with Charcot arthropathy is a rare combination in orthopaedic clinical practice. The experience dealing with such patients is limited. Here with this case of approximately 10 years follow‐
Yuhao Jiao, Ye Tian, Siyi Cai
doaj   +3 more sources

Anesthetic management of a patient with congenital insensitivity to pain with anhidrosis by coadministration of remifentanil [PDF]

JA Clinical Reports, 2018
Background Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disease characterized by unexplained fever, systemic insensitivity to pain, anhidrosis, and mental distress.
Yoko Takeuchi, Yoshihito Fujita, Takeshi Shimomura, Shuji Kurokawa, Hiroki Noguchi, Yoshihiro Fujiwara   +5 more
doaj   +3 more sources

Investigation of a Novel NTRK1 Variation Causing Congenital Insensitivity to Pain With Anhidrosis [PDF]

Frontiers in Genetics, 2021
Background: Congenital insensitivity to pain with anhidrosis (CIPA), a rare autosomal recessive sensory neuropathy, was caused mainly by biallelic mutations in the NTRK1 gene.
Huaying Hu, Kai Yang, Yong-Qing Sun
exaly   +4 more sources

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   +3 more sources

Anesthetic management of a child with congenital insensitivity to pain with anhidrosis: A case report [PDF]

Frontiers in Surgery, 2022
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare, autosomal recessive disease classified as hereditary sensory and autonomic neuropathy type VI. Patients with CIPA are characterized by insensitivity to pain, episodes of unexplained fever,
Ying Zhang, Zhiyu Geng
doaj   +2 more sources

Congenital Insensitivity to Pain with Anhidrosis: A Case Report. [PDF]

Cureus, 2023
Hereditary sensory and autonomic neuropathy type 4 (HSAN4), or congenital insensitivity to pain with anhidrosis (CIPA), is a rare autosomal recessive disorder caused by mutations in the NTRK1 gene, resulting in pain insensitivity, anhidrosis, and temperature dysregulation.
Sulaiman NM, Alyahya E.
europepmc   +3 more sources

Early clinical diagnosis of congenital insensitivity to pain with anhidrosis in an infant: a case report [PDF]

Frontiers in Pediatrics
Congenital insensitivity to pain with anhidrosis (CIPA) is an extremely rare autosomal recessive disorder. Its core clinical manifestations include profound pain insensitivity, generalized anhidrosis, and subsequent recurrent hyperthermia.
Ziqing Tang, Ziqing Tang, Fenfen Xu, Piaopiao Zhang, Jing Zhang, Xinyu Kang, Hongyang Zhao, Hongyang Zhao   +7 more
doaj   +2 more sources

Uncovering oral and maxillofacial clues in congenital insensitivity to pain with anhidrosis: what can sibling cases teach us? [PDF]

BMC Oral Health
Background Congenital Insensitivity to Pain with Anhidrosis (CIPA) is an extremely rare congenital disorder characterized by severe clinical and oral manifestations.
Katibe Tugce Temur
doaj   +2 more sources

Congenital insensitivity to pain with anhidrosis

Journal of the Pakistan Medical Association
Congenital Insensitivity to Pain with Anhidrosis (CIPA) is characterised by disruption of sensory neurons caused by genetic mutations in the Neurotrophic Tyrosine Kinase 1 (NTRK1) gene which leads to impaired pain sensation, accompanied by anhidrosis ...
Meher Ayyazuddin, Nushra Maqsood, Saman Khan, Muhammad Ali, Spenta Kakalia   +4 more
doaj   +3 more sources