Results 1 to 10 of about 1,205 (182)

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   +3 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

Atypical Presentation of Congenital Insensitivity to Pain With Anhidrosis Leading to Diagnostic Odyssey [PDF]

Molecular Genetics & Genomic Medicine
Background Congenital insensitivity to pain with anhidrosis (CIPA) (OMIM 256800) is a rare autosomal‐recessive condition, also known as hereditary sensory and autonomic neuropathy type IV (HSAN‐IV). The most commonly reported features include anhidrosis,
Tomoyasu Higashimoto, Martin E. Garber, Lauren Hipp, Jenna Damon, Qing Li   +4 more
doaj   +3 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   +3 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   +3 more sources

Identification of novel variations in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis [PDF]

Molecular Genetics & Genomic Medicine, 2021
Background Congenital insensitivity to pain (CIP) conditions are a group of Mendelian disorders with clinical and genetic heterogeneity. CIP with anhidrosis (CIPA) is a distinct subtype caused by biallelic variants in the NTRK1 gene.
Shang Li, Hua‐ying Hu, Jun‐Jun Xu, Zhan‐ke Feng, Yong‐qing Sun, Xu Chen, Kai Yang, Ya‐zhou Li, Dong‐liang Zhang   +8 more
doaj   +3 more sources

Hemodynamic Response to Massive Bleeding in a Patient with Congenital Insensitivity to Pain with Anhidrosis [PDF]

Case Reports in Anesthesiology, 2018
A patient with congenital insensitivity to pain with anhidrosis (CIPA) underwent revision of total hip arthroplasty under general anesthesia with only propofol.
Yuki Sugiyama, Sayako Gotoh, Masatoshi Urasawa, Mikito Kawamata, Koichi Nakajima   +4 more
doaj   +4 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

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

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