Konjenital ağrı duyarsızlık ve anhidrosis sendromu olan iki kardeşin anestezik yönetimi [PDF]
, 2019 Congenital insensitivity to pain with anhidrosis (CIPA) is a rare syndrome characterized by a lack of sensitivity to pain due to congenital sensory and autonomic neuropathies, anhidrosis, an inability to regulate body temperature, growth retardation ...
Destegul, Dilek +2 more
core +1 more source
Role of NTRK Fusion Genes in the Tumor Immune Microenvironment of HPV (+/−) Cervical Cancer
Journal of Medical Virology, Volume 97, Issue 8, August 2025.ABSTRACT Cervical cancer, a prevalent gynecological malignancy, is primarily associated with human papillomavirus (HPV) infection. However, some cases display distinct molecular alterations beyond HPV, significantly impacting the tumor immune microenvironment (TIME) and posing therapeutic challenges.
Qiongying Wang +7 more
wiley +1 more source
Dental management of oral self-mutilation in neurological patients : a case of congenital insensitivity to pain with anhidrosis [PDF]
, 2008 Hereditary sensory and autonomic neuropathy type IV is a rare disease characterized by fever episodes, mental retardation of different intensity, recurrent episodes of fever secondary to anhidrosis, little or no perspiration and congenital ...
García Recuero, Ignacio Ismael +3 more
core
Effectiveness of Total Hip Arthroplasty Combined With Hip Braces for Hip Charcot Arthropathy
Orthopaedic Surgery, Volume 17, Issue 3, Page 790-800, March 2025.This study evaluates the efficacy of Total Hip Arthroplasty combined with Hip Braces in patients with Charcot arthropathy. Assessment indicators such as VAS score, Oxford Hip Score, and UCLA score demonstrate significant improvements in hip joint function post‐surgery. Key complications include hip dislocation and acetabular component loosening.
Long‐Teng Chao +8 more
wiley +1 more source
A case report and insightful review of congenital insensitivity to pain with anhidrosis [PDF]
We present a case of a 9-month-old male, born to a third-degree consanguineous marriage, presenting with a month-long history of mild to moderate fever occurring 3-4 times daily.
Mathews, Aswathy, Prazad, Amal
core +2 more sources
A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy [PDF]
, 2011 Background Nerve growth factor beta (NGF beta) and tyrosine kinase receptor type A (TRKA) are a well studied neurotrophin/receptor duo involved in neuronal survival and differentiation. The only previously reported hereditary sensory neuropathy caused by
Al-Gazali, Lihadh +8 more
core +2 more sources
A Systematic Review of Congenital Insensitivity to Pain, a Rare Disease [PDF]
Introduction: Pain perception, far from being a pathological mechanism, is a crucial protective stimulus to prevent additional injuries. Any disturbance in this complex system poses significant risks to individuals, affecting their quality of life and ...
Cortés Martín, Celia +6 more
core +1 more source
Mutations in TrkA Causing Congenital Insensitivity to Pain with Anhidrosis (CIPA) Induce Misfolding, Aggregation, and Mutation-dependent Neurodegeneration by Dysfunction of the Autophagic Flux [PDF]
, 2016 Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disorder characterized by insensitivity to noxious stimuli and variable intellectual disability (ID) due to mutations in the NTRK1 gene encoding the NGF receptor TrkA ...
Acebo, Paloma +7 more
core +1 more source
Case Reports in Dentistry, Volume 2025, Issue 1, 2025.Hereditary sensory and autonomic neuropathies (HSANs) are rare inheritable syndromes of unknown etiology. They typically appear in early childhood and are categorized into six different types based on their symptoms. HSAN‐V is characterized by loss of pain and thermal perception, Charcot joints, painless fractures, scoliosis, oral lesions, and absent ...
Sana Lala +2 more
wiley +1 more source
Congenital Insensitivity to Pain with Anhidrosis: A Case Report
Medical Records, 2022 Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disorder that is characterized by insensitivity to pain, anhidrosis and mental retardation. Mutations in the neurotrophic tyrosine receptor kinase 1 gene are responsible for the disorder.
Müjgan ARSLAN +3 more
openaire +2 more sources