This 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 ...
Yaqiong Ren +9 more
wiley +1 more source
Unraveling Chronic Pain: From Mechanisms and Risks to Diagnosis and Treatment
Chronic pain arises through distinct molecular pathways categorized into nociceptive, neuropathic, and nociplastic types. Nociceptive pain begins with TRP channel activation in peripheral nociceptors, signaling via Aδ‐ and C‐fibers through the spinal dorsal horn and spinothalamic tracts to the brain, regulated by descending inhibition and involving ...
Xiaofeng Dai +3 more
wiley +1 more source
Molecular determinants of signal transduction in tropomyosin receptor kinases
Tropomyosin receptor kinases control critical neuronal functions, but how do the same receptors produce diverse cellular responses? This review explores the structural mechanisms behind Trk signaling diversity, focusing on allosteric modulation and ligand bias.
Giray Enkavi
wiley +1 more source
Dental management of oral self-mutilation in neurological patients : a case of congenital insensitivity to pain with anhidrosis [PDF]
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
A case of hereditary sensory and autonomic neuropathy type 4 presenting with chronic trophic ulcers [PDF]
Hereditary Sensory and Autonomic Neuropathy (HSAN) is a rare group of diseases involving varying degrees of peripheral nervous system. It is classified into five main types.
Shamkuwar, Pratibha B., Tilak, Kedar M.
core +2 more sources
Congenital Insensitivity to Pain with Anhidrosis: A Case Report
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
Role of NTRK Fusion Genes in the Tumor Immune Microenvironment of HPV (+/−) Cervical Cancer
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
Ayurvedic Perspectives on Congenital Insensitivity to Pain with Anhidrosis (CIPA): An Integrative Analysis of Traditional and Contemporary Understanding [PDF]
Congenital insensitivity to pain with anhidrosis (CIPA) represents a rare genetic disorder characterized by complete absence of pain sensation and inability to sweat, primarily attributed to mutations in the NTRK1 gene.
Anurag Mishra, Kavita Tiwari
core +2 more sources
Effectiveness of Total Hip Arthroplasty Combined With Hip Braces for Hip Charcot Arthropathy
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

