Common genetic disease linked to father's age
(University of Southern California) Scientists at USC have unlocked the mystery of why new cases of the genetic disease Noonan syndrome are so common; a mutation that causes the disease disproportionately increases a normal father's production of sperm carrying the disease trait. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - June 6, 2013 Category: Global & Universal Source Type: news
Noonan Syndrome Helped Long Term by Growth Hormone (CME/CE)
WASHINGTON (MedPage Today) -- Children with the genetic disorder Noonan syndrome, characterized by short stature and organ abnormalities, had a more lasting response to growth hormone therapy than did those with the similar but distinct Turner syndrome, a researcher said here. (Source: MedPage Today Primary Care)
Source: MedPage Today Primary Care - May 6, 2013 Category: Primary Care Source Type: news
Research Offers New Insight Into RASopathy-Associated Lymphatic Defects
The RAS pathway is a cellular signaling pathway that regulates growth and development in humans. RASopathies are a group of diseases characterized by defects in RAS signaling. Many patients with RASopathies present with defects in the lymphatic system, which removes excess fluid from tissues, absorbs fats from the digestive system, and transports immune cells. To determine how alterations in the RAS pathway affect development of the lymphatic system, researchers at Yale University generated transgenic mice that expressed mutations associated with a RASopathy known as Noonan syndrome... (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - February 14, 2013 Category: Consumer Health News Tags: Lymphology/Lymphedema Source Type: news
Noonan Syndrome Information
Noonan syndrome is a condition that affects many areas of a person's body. Mildly unusual facial characteristics, heart defects, short stature, skeletal malformations, bleeding issues, and other signs and symptoms characterize the condition. People who experience Noonan syndrome have distinctive facial features to include a deep groove in the area between their nose and mouth, eyes that are widely spaced and often times blue-green or pale blue in color, as well as ears that are low-set and rotated backward. People with this condition might have a high arch in the roof of their mouth, a small lower jaw, and poor alignment o...
Source: Disabled World - January 20, 2013 Category: Disability Tags: Disability Information Source Type: news
Sustaining visual attention in the face of distraction: a novel gradual-onset continuous performance task - Rosenberg M, Noonan S, Degutis J, Esterman M.
Sustained attention is a fundamental aspect of human cognition and has been widely studied in applied and clinical contexts. Despite a growing understanding of how attention varies throughout task performance, moment-to-moment fluctuations are often diffic... (Source: SafetyLit: All (Unduplicated))
Source: SafetyLit: All (Unduplicated) - January 12, 2013 Category: Global & Universal Tags: Distraction, Fatigue, Chronobiology, Vigilance, Workload Source Type: news
Review: Noonan syndrome
Source: Lancet
Area: News
Noonan syndrome is a genetic multisystem disorder characterised by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies, lymphatic malformations, and bleeding difficulties. This review discusses the signs and symptoms of the disease, natural history, diagnosis, and management and differential diagnosis. (Source: NeLM - News)
Source: NeLM - News - January 10, 2013 Category: Drugs & Pharmacology Source Type: news
