Results 1 to 10 of about 10,885 (206)

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

Clinical Case Reports
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
doaj   +2 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

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

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 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

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

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   +2 more sources

Congenital Insensitivity to Pain and Anhidrosis With Orthopedic and Self‐Injury Complications in a 5‐Year‐Old Boy: A Case Report [PDF]

Clinical Case Reports
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disorder because of NTRK1 gene mutations, leading to an inability to perceive pain and temperature and lack of sweating. Its rarity and unique clinical challenges, such
Zubair Amin, Humza Saeed, Syed Imam Naufil, Sadaf Saba, Abdullah Imtiaz, Syed Hassan Akhlaq, Muhammad Husnain Ahmad, Masab Ali   +7 more
doaj   +2 more sources

Congenital Insensitivity to Pain and Anhydrosis: A Report of Two Cases

Journal of Orthopaedic Surgery, 2013
We report on 2 patients with congenital insensitivity to pain and anhydrosis. The first one was a 7-month-old boy who presented with non-traumatic, haematogenous septic dislocation of the right elbow with physeal separation of the distal humerus.
Maharajan Karthikeyan, Thimmaiah Sreenivas, Jagdish Menon, Dilip Kumar Patro   +3 more
doaj   +2 more sources

A pathological missense mutation in the deubiquitinase USP5 leads to insensitivity to pain [PDF]

Journal of Experimental Medicine
Vinicius Gadotti, Eder Gambeta, Gerald W Zamponi   +2 more
exaly   +2 more sources