Congenital insensitivity to pain: How should anesthesia be managed? [PDF]
The Turkish Journal of Pediatrics, 2017 Congenital insensitivity to pain syndrome is a rare, sensorial and autonomic neuropathy characterized by unexplained fever, insensitivity to pain and anhidrosis.
Özlem Özmete +4 more
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Anesthetic management of children with congenital insensitivity to pain with anhidrosis. [PDF]
Pediatr Investig, 2020 ABSTRACTIntroductionCongenital analgesia is a rare autosomal recessive hereditary disease. The primary damage of congenital analgesia is central structure damage of comprehensive pain perception.Case presentationA 1‐year‐old Han Chinese boy was admitted to hospital because of a tongue bite.
Qiu Y, Zhao L, Yao D, Jia Y.
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A novel NTRK1 splice site variant causing congenital insensitivity to pain with anhidrosis in a Chinese family [PDF]
Frontiers in GeneticsBackgroundCongenital 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 +10 more
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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 AnesthesiologyCongenital 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 +6 more
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Journal of International Medical Research, 2018 Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive heterogeneous disorder mainly caused by mutations in the neurotrophic tyrosine receptor kinase 1 gene ( NTRK1 ) and characterized by insensitivity to noxious stimuli ...
Zhenlei Liu +15 more
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Congenital insensitivity to pain with anhidrosis: a literature review and the advocacy for stem cell therapeutic interventions [PDF]
Therapeutic Advances in Rare DiseaseCongenital 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 +4 more
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Anesthesia in a Patient With Congenital Insensitivity to Pain and Anhidrosis [PDF]
Brazilian Journal of Anesthesiology, 2009 Congenital insensitivity to pain and Anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV (HSAN IV) is a rare autosomal recessive neuropathy of the group of hereditary sensory and autonomic neuropathies (HSAN) characterized by insensitivity to pain, anhidrosis, and mental retardation.
Oliveira, Carlos Rogério Degrandi +3 more
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Congenital Insensitivity to Pain with Anhidrosis: A Rare Entity. [PDF]
Indian Dermatol Online J, 2020 Rajbansh P, Yadav M, Kumar P, Das A.
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Identification and Functional Characterization of Novel and Recurrent NTRK1 Variants in Chinese Families With Congenital Insensitivity to Pain With Anhidrosis: A Combined Clinical, Genetic, and Functional Study. [PDF]
Eur J NeurolThis study investigates four Chinese families with congenital insensitivity to pain with anhidrosis (CIPA). Through next‐generation sequencing, we identified seven NTRK1 variants, including two novel mutations. Functional characterization of five identified missense and indel variants revealed distinct disruptions in the NGF‐TrkA pathway, ranging from ...
Ren Y +9 more
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Hereditary sensory and autonomic neuropathy type viii: congenital insensitivity to pain with anhidrosis [PDF]
Indian Dermatology Online Journal, 2022 Rakhi Kusumesh +3 more
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