Results 31 to 40 of about 1,211 (180)

A novel NTRK1 splice site variant causing congenital insensitivity to pain with anhidrosis in a Chinese family [PDF]

Frontiers in Genetics
BackgroundCongenital insensitivity to pain with anhidrosis (CIPA, OMIM #256800), also known as hereditary sensory and autonomic neuropathy type Ⅳ (HSAN-IV), is a rare autosomal recessive disorder characterized by recurrent episodic fevers, anhidrosis ...
Ling Sun, Jin Dai, Yuan Zhang, Yuan Zhang, Lijun Zhou, Lijun Zhou, Yaqiong Ren, Yaqiong Ren, Hongying Wang, Hongying Wang, Hongying Wang   +10 more
doaj   +2 more sources

Recurrent Osteomyelitis in a Paediatric Patient with a Novel NTRK1 Mutation: A Case Report on Congenital Insensitivity to Pain with Anhidrosis [PDF]

Children
Background: Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type IV (HSAN IV), is an exceedingly rare genetic disorder characterized by the inability to perceive pain, inability to sweat,
Liena Gasina, Nityanand Jain, Arturs Viksne, Dzintars Ozols, Mohit Kakar, Uldis Bergmanis   +5 more
doaj   +2 more sources

Ultrasound-guided femoral nerve block combined with lateral femoral cutaneous nerve block in a patient with congenital insensitivity to pain and anhidrosis: a case report [PDF]

BMC Anesthesiology
Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathies (HSAN I-V), is an exceptionally rare autosomal recessive disorder. The pathogenesis of CIPA remains not fully elucidated.
Jianzhong Li, Mingming Zhang, Dalong Dong, Hong Xu, Ankui Wang, Qi Liu, Lei Duan   +6 more
doaj   +2 more sources

Congenital insensitivity to pain with anhidrosis: a literature review and the advocacy for stem cell therapeutic interventions [PDF]

Therapeutic Advances in Rare Disease
Congenital Insensitivity to Pain with Anhidrosis (CIPA) is a rare genetic disorder affecting the autonomic nervous system, leading to an inability to feel pain, temperature, or sweat1.
Muhammad Ikrama, Muhammad Usama, Muhammad Hassan Haider, Shifa Israr, Maryam Humayon   +4 more
doaj   +2 more sources

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, Marzye Mohammadi-Anaie   +1 more
doaj   +4 more sources

Hereditary sensory and autonomic neuropathy type viii: congenital insensitivity to pain with anhidrosis [PDF]

Indian Dermatology Online Journal, 2022
Rakhi Kusumesh, Anita Ambastha, Vivek Singh, Ankita Singh   +3 more
doaj   +2 more sources

Successful Management of a Complicated Forearm Fracture in a Patient with Congenital Insensitivity to Pain: A Case Report [PDF]

International Medical Case Reports Journal
Anas Alrusan,1 Suhaib Bani Essa,2 Saif Aldin Naif Rawabdeh,3 Yazan Anaqreh,2 Modather Hatamleh,1 Mohammad Alradaideh,1 Mohammed Baker,4 Abdelwahab Aleshawi4 1Department of Anesthesiology, Faculty of Medicine, Jordan University of Science and Technology ...
Alrusan A, Bani Essa S, Rawabdeh SAN, Anaqreh Y, Hatamleh M, Alradaideh M, Baker M, Aleshawi A   +7 more
doaj   +2 more sources

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

Paediatr 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 With Anhidrosis Is Associated With Harlequin Color Change: A Survey Study. [PDF]

Pediatr 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

Congenital Insensitivity to Pain with Anhidrosis: A Rare Entity.

Indian Dermatol Online J, 2020
Rajbansh P, Yadav M, Kumar P, Das A.
europepmc   +3 more sources