Advertisement

Topics

Melanopsin System Dysfunction in Smith-Magenis Syndrome Patients.

07:00 EST 1st January 2018 | BioPortfolio

Summary of "Melanopsin System Dysfunction in Smith-Magenis Syndrome Patients."

Smith-Magenis syndrome (SMS) causes sleep disturbance that is related to an abnormal melatonin profile. It is not clear how the genomic disorder leads to a disturbed synchronization of the sleep/wake rhythm in SMS patients. To evaluate the integrity of the intrinsically photosensitive retinal ganglion cell (ipRGC)/melanopsin system, the transducers of the light-inhibitory effect on pineal melatonin synthesis, we recorded pupillary light responses (PLR) in SMS patients.

Affiliation

Journal Details

This article was published in the following journal.

Name: Investigative ophthalmology & visual science
ISSN: 1552-5783
Pages: 362-369

Links

DeepDyve research library

PubMed Articles [36943 Associated PubMed Articles listed on BioPortfolio]

Production and characterization of CSSI003 (2961) human induced pluripotent stem cells (iPSCs) carrying a novel puntiform mutation in RAI1 gene, Causative of Smith-Magenis syndrome.

Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by developmental delay, behavioural problems and circadian rhythm dysregulation. About 90% of SMS cases are due to a 17p11.2 de...

Cone and melanopsin contributions to human brightness estimation.

We determined the contributions of cone and melanopsin luminance signaling to human brightness perception. The absolute brightness of four narrowband primary lights presented in a full-field Ganzfeld ...

The human visual cortex response to melanopsin-directed stimulation is accompanied by a distinct perceptual experience.

The photopigment melanopsin supports reflexive visual functions in people, such as pupil constriction and circadian photoentrainment. What contribution melanopsin makes to conscious visual perception ...

Multimarker Assessment of Diastolic Dysfunction in Metabolic Syndrome Patients.

Metabolic syndrome (MetS) has been associated with left ventricular diastolic dysfunction (LVDD) with preserved systolic function. This study aims at identifying the predictive factors for LVDD in Met...

Otologic disorders in Turner syndrome.

Patients with Turner syndrome (TS) have craniofacial malformations, such as Eustachian tube hypoplasia and dysfunction and velar dysfunction, which foster acute otitis media. The aim of this study was...

Clinical Trials [9574 Associated Clinical Trials listed on BioPortfolio]

Melatonin in Adults With SMS

Sleep-Wake and behavioral disorders in Smith Magenis Syndrome (SMS) are strongly linked to an inversion of the nychtemeral secretion of melatonin. This inversion have been described in chi...

Prenatal Screening For Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome (SLOS) is a genetic condition that causes mental retardation and other birth defects. This study will evaluate a new prenatal screening test for SLOS.

Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome

The purpose of this study is to determine whether supplementation with an oil-based cholesterol suspension will correct the biochemical abnormalities in cholesterol and its precursors in i...

Chromatic Pupillometry to Assess the Melanopsin-Light Pathway in Progressive Supranuclear Palsy

The specific aim of this study is to investigate rod, cone and melanopsin driven pupillary light response in individuals with progressive supranuclear palsy (PSP), age-matched healthy cont...

Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes

OBJECTIVES: I. Investigate phenotype and genotype correlations in patients with Smith-Magenis syndrome (SMS) associated with del(17p11.2). II. Clinically evaluate SMS patients with unusua...

Medical and Biotech [MESH] Definitions

Complex neurobehavioral disorder characterized by distinctive facial features (FACIES), developmental delay and mental retardation. Behavioral phenotypes include sleep disturbance, maladaptive, self-injurious and attention-seeking behaviors. The sleep disturbance is linked to an abnormal circadian secretion pattern of MELATONIN. The syndrome is associated with de novo deletion or mutation and HAPLOINSUFFICIENCY of the retinoic acid-induced 1 protein on chromosome 17p11.2.

Drugs that act principally at one or more sites within the peripheral neuroeffector systems, the autonomic system, and motor nerve-skeletal system. (From Smith and Reynard, Textbook of Pharmacology, 1991, p75)

The nursing specialty focusing on the needs of patients with dysfunction of the NERVOUS SYSTEM.

A heterogeneous group of disorders with the common feature of prolonged eosinophilia of unknown cause and associated organ system dysfunction, including the heart, central nervous system, kidneys, lungs, gastrointestinal tract, and skin. There is a massive increase in the number of eosinophils in the blood, mimicking leukemia, and extensive eosinophilic infiltration of the various organs. It is often referred to as idiopathic.

Renal syndrome in human immunodeficiency virus-infected patients characterized by nephrotic syndrome, severe proteinuria, focal and segmental glomerulosclerosis with distinctive tubular and interstitial changes, enlarged kidneys, and peculiar tubuloreticular structures. The syndrome is distinct from heroin-associated nephropathy as well as other forms of kidney disease seen in HIV-infected patients.

Advertisement
Quick Search
Advertisement
Advertisement

 


DeepDyve research library

Relevant Topic

Sleep Disorders
Sleep disorders disrupt sleep during the night, or cause sleepiness during the day, caused by physiological or psychological factors. The common ones include snoring and sleep apnea, insomnia, parasomnias, sleep paralysis, restless legs syndrome, circa...


Searches Linking to this Article