Results 21 to 30 of about 1,205 (182)

Clinical manifestations of congenital Insensitivity to pain with anhidrosis [PDF]

Salud Uninorte, 2021
La insensibilidad congénita al dolor con anhidrosis (HSAN-IV o CIPA) es una enfermedad rara con sintomatología multisistémica, que impacta el funcionamiento cognitivo, afectando negativamente la calidad de vida los pacientes y sus familias. Se estima que
Puentes Rozo, Pedro, Santoya-Montes​, Yanin Elena   +1 more
core   +3 more sources

Anesthetic management during adenotonsillectomy for twins with congenital insensitivity to pain with anhidrosis: two case reports [PDF]

Journal of Medical Case Reports, 2017
Background Congenital insensitivity to pain with anhidrosis is a rare autosomal recessive disorder characterized by hyperpyrexia, anhidrosis, pain insensitivity, self-inflicted injuries, and intellectual disability.
Cong Wang, Xianwei Zhang, Shanna Guo, Jiaoli Sun, Ningbo Li   +4 more
doaj   +2 more sources

Ocular Manifestations in Congenital Insensitivity to Pain with Anhidrosis: A Window into a Rare Syndrome [PDF]

Vision
Background: Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive syndrome caused by loss-of-function mutations in the Neurotrophic Tyrosine Kinase Receptor 1 gene, characterized by recurrent episodes of infections and ...
Mohammed Baker, Kenda Abedal-Kareem, Sadeen Eid, Mahmoud Alkhawaldeh, Yahya Albashaireh, Jihan Joulani, Sara Bani Amer, Ethar Hazaimeh, Omar F. Jbarah, Abdelwahab Aleshawi, Rami Al-Dwairi   +10 more
doaj   +2 more sources

Congenital Insensitivity to Pain without Anhidrosis: Orodental Problems and Management [PDF]

Case Reports in Dentistry, 2015
This paper reports the case of a 4-year-old male patient who was brought by parents requesting for replacement of multiple missing anterior teeth. The patient suffered from congenital insensitivity to pain without anhidrosis and presented with full blown
N. Abdullah, Kausar Sadia Fakhruddin, A. R. Samsudin   +2 more
doaj   +4 more sources

Clinical, genomics and networking analyses of a high-altitude native American Ecuadorian patient with congenital insensitivity to pain with anhidrosis: a case report [PDF]

BMC Medical Genomics, 2020
Background Congenital insensitivity to pain with anhidrosis (CIPA) is an extremely rare autosomal recessive disorder characterized by insensitivity to pain, inability to sweat and intellectual disability.
Andrés López-Cortés, Ana Karina Zambrano, Patricia Guevara-Ramírez, Byron Albuja Echeverría, Santiago Guerrero, Eliana Cabascango, Andy Pérez-Villa, Isaac Armendáriz-Castillo, Jennyfer M. García-Cárdenas, Verónica Yumiceba, Gabriela Pérez-M, Paola E. Leone, César Paz-y-Miño   +12 more
doaj   +2 more sources

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

The Ewha Medical Journal
Patients with congenital insensitivity to pain and anhidrosis (CIPA) exhibit an inability to perceive pain, recurrent fractures, self-mutilation, and impaired thermoregulation, which lead to severe complications and high morbidity.
Amaal Aldosari, Abdulraheem Almokhtar, Hashem Bukhary, Raed Sharaf, Khalid Alhomayani   +4 more
doaj   +2 more sources

Multidisciplinary Approach for Dental Management of Congenital Insensitivity to Pain with Anhidrosis: Clinical Case Report with 12-Month Follow-Up [PDF]

Dentistry Journal
Background: Congenital Insensitivity to Pain and Anhidrosis (CIPA) is a rare autosomal recessive disorder characterized by congenital analgesia, anhidrosis, and multisystem involvement affecting the musculoskeletal, cutaneous, oral, and para-oral ...
Almoataz B. A. T. Abdel-bari, Mohamed Fawzy, Khaled A. Saad, Hatem A. Alhadainy   +3 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

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

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