Dataset Information

Genetics of human gastrointestinal sensation.

ABSTRACT: The objective was to review the genetics of human visceral pain with particular emphasis on pain associated with irritable bowel syndrome.The biomarkers most commonly employed in identifying visceral hypersensitivity are sensation ratings and thresholds or brain imaging during viscus (e.g., rectal) distension. Genetic studies suggest that variation in the control of candidate genes involved in ion channel function, neurotransmitter synthesis, reuptake or receptor functions, and inflammatory disease susceptibility loci may impact variations in prevalence of the symptom phenotype of abdominal pain or IBS, or quantitative traits (intermediate phenotypes) of rectal sensation. The candidate genes include SLC6A4, CNR1, and TNFSF15 reflecting serotonin reuptake, cannabinoid receptors, and inflammatory-barrier functions. However, other than TNFSF15, the other candidate genes are only univariately associated with pain, IBS symptom complex, or quantitative traits of sensation. These data have generated hypotheses and present opportunities for study of mechanisms and treatment of visceral pain in humans, which remains an unmet clinical need in patients with IBS and functional abdominal pain.

SUBMITTER: Camilleri M

PROVIDER: S-EPMC3656127 | biostudies-literature | 2013 Jun

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Genetics of human gastrointestinal sensation.

Camilleri M M

Neurogastroenterology and motility 20130417 6

<h4>Purpose</h4>The objective was to review the genetics of human visceral pain with particular emphasis on pain associated with irritable bowel syndrome.<h4>Background</h4>The biomarkers most commonly employed in identifying visceral hypersensitivity are sensation ratings and thresholds or brain imaging during viscus (e.g., rectal) distension. Genetic studies suggest that variation in the control of candidate genes involved in ion channel function, neurotransmitter synthesis, reuptake or recept ...[more]

PMID: 23594334

Similar Datasets

Project description:IntroductionAdding sensory feedback to myoelectric prosthetic hands was shown to enhance the user experience in terms of controllability and device embodiment. Often this is realized non-invasively by adding devices, such as actuators or electrodes, within the prosthetic shaft to deliver the desired feedback. However, adding a feedback system in the socket adds more weight, steals valuable space, and may interfere with myoelectric signals. To circumvent said drawbacks we tested for the first time if force feedback from a prosthetic hand could be redirected to another similarly sensitive part of the body: the foot.MethodsWe developed a vibrotactile insole that vibrates depending on the sensed force on the prosthetic fingers. This self-controlled clinical pilot trial included four experienced users of myoelectric prostheses. The participants solved two types of tasks with the artificial hands: 1) sorting objects depending on their plasticity with the feedback insole but without audio-visual feedback, and 2) manipulating fragile, heavy, and delicate objects with and without the feedback insole. The sorting task was evaluated with Goodman-Kruskal's gamma for ranked correlation. The manipulation tasks were assessed by the success rate.ResultsThe results from the sorting task with vibrotactile feedback showed a substantial positive effect. The success rates for manipulation tasks with fragile and heavy objects were high under both conditions (feedback on or off, respectively). The manipulation task with delicate objects revealed inferior success with feedback in three of four participants.ConclusionWe introduced a novel approach to touch sensation in myoelectric prostheses. The results for the sorting task and the manipulation tasks diverged. This is likely linked to the availability of various feedback sources. Our results for redirected feedback to the feet fall in line with previous similar studies that applied feedback to the residual arm.Clinical trial registrationName: Sensor Glove and Non-Invasive Vibrotactile Feedback Insole to Improve Hand Prostheses Functions and Embodiment (FeetBack). Date of registration: 23 April 2019. Date the first participant was enrolled: 3 September 2021. ClinicalTrials.gov Identifier: NCT03924310.

Project description:Human hydrocephalus is a common medical condition that is characterized by abnormalities in the flow or resorption of cerebrospinal fluid (CSF), resulting in ventricular dilatation. Human hydrocephalus can be classified into two clinical forms, congenital and acquired. Hydrocephalus is one of the complex and multifactorial neurological disorders.A growing body of evidence indicates that genetic factors play a major role in the pathogenesis of hydrocephalus. An understanding of the genetic components and mechanism of this complex disorder may offer us significant insights into the molecular etiology of impaired brain development and an accumulation of the cerebrospinal fluid in cerebral compartments during the pathogenesis of hydrocephalus. Genetic studies in animal models have started to open the way for understanding the underlying pathology of hydrocephalus. At least 43 mutants/loci linked to hereditary hydrocephalus have been identified in animal models and humans. Up to date, 9 genes associated with hydrocephalus have been identified in animal models. In contrast, only one such gene has been identified in humans. Most of known hydrocephalus gene products are the important cytokines, growth factors or related molecules in the cellular signal pathways during early brain development. The current molecular genetic evidence from animal models indicate that in the early development stage, impaired and abnormal brain development caused by abnormal cellular signaling and functioning, all these cellular and developmental events would eventually lead to the congenital hydrocephalus. Owing to our very primitive knowledge of the genetics and molecular pathogenesis of human hydrocephalus, it is difficult to evaluate whether data gained from animal models can be extrapolated to humans. Initiation of a large population genetics study in humans will certainly provide invaluable information about the molecular and cellular etiology and the developmental mechanisms of human hydrocephalus. This review summarizes the recent findings on this issue among human and animal models, especially with reference to the molecular genetics, pathological, physiological and cellular studies, and identifies future research directions.

Dataset Information

Genetics of human gastrointestinal sensation.

Publications

Genetics of human gastrointestinal sensation.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets