ArticleJournal of pain research2019
Heterogeneity of clinical features and mutation analysis of
Article in Journal of pain research, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
18 citing papers in PubMed, 27 citations in OpenAlex.
- Unidirectional Crosstalk Between NTRK1 and IGF2 Drives ER Stress in Chronic Pain.Biomedicines · 2025Article
- Living without pain: A 10-year study of congenital insensitivity to pain with anhidrosis.Pediatric research · 2025Article
- A novel treatment strategy with hyperbaric oxygen of chronic osteomyelitis and pseudoarthrosis in a child with congenital hereditary sensory and autonomic neuropathy type 4 congenital insensitivity to pain with anhidrosis syndrome: a case report.Journal of medical case reports · 2025Article
- Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literature.Molecular genetics & genomic medicine · 2024Review
- A novelFrontiers in genetics · 2024Article
- Article
- Genetic pain loss disorders.Nature reviews. Disease primers · 2022Review
- Autism spectrum disorder in a boy with congenital insensitivity to pain with anhidrosis: a case report.BMC pediatrics · 2022Article
- Trends in Congenital Insensitivity to Pain with Anhidrosis: A Bibliometric Analysis from 2000 to 2021.Journal of pain research · 2022Article
- A 5-Year-Old Palestinian Bedouin Girl with Repeated Self-Induced Injuries to the Digits, a Diagnosis of Congenital Insensitivity to Pain, and Anhidrosis.The American journal of case reports · 2021Article
- Identification of novel variations in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis.Molecular genetics & genomic medicine · 2021Article
- Pivotal role of the gut microbiota in congenital insensitivity to pain with anhidrosis.Psychopharmacology · 2021Article
- NTRK1 gene-related congenital insensitivity to pain with anhidrosis: a nationwide multicenter retrospective study.Neurogenetics · 2021Article
- Article
- Investigation of a NovelFrontiers in genetics · 2021Article
- Novel Gross Deletion Mutations inFrontiers in pediatrics · 2021Article
- Ntrk1 mutation co-segregating with bipolar disorder and inherited kidney disease in a multiplex family causes defects in neuronal growth and depression-like behavior in mice.Translational psychiatry · 2020Article
- Conservative Treatment or Surgical Treatment: A Case Report and Literature Review of Multiple Fractures of the Lower Extremities in a Child with Insensitivity to Pain.Orthopaedic surgery · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeCongenital insensitivity to pain with anhidrosis (CIPA) is a rare inherited disorder whose core clinical features consist of no response to noxious stimuli and inability to sweat under any conditions. Our goal was to characterize the details of phenotypic and genotypic features in Chinese CIPA patients. PATIENTS AND
methodsPersonal data and clinical information were investigated by interview and physical examination. DNA was extracted from blood samples of patients and their available familial members and subjected to genetic analysis.
resultsA total of 41 Han Chinese CIPA patients from 35 unrelated families were recruited. The distribution of patients was mainly in the central and southern regions of China, with a male to female ratio of 3:1 and a mortality rate of 7.3%. Heterogeneity of clinical features, including pain insensitivity, temperature sensation, and complications, were cataloged. Interestingly, some patients had "visceral pain" sensation, and there was a significant difference in temperature perception and thermal pain between individuals. The incidence of bone and joint fractures was 49%. The characteristics of 19 mutations of
conclusionCurrent findings expand our knowledge about the spectrum of phenotypic features and the racial characteristics of
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.