10 Things to be Aware of on NF Awareness Day

May 20, 2010 | by

May is NF Awareness Month, and in a particular effort to help get the word out about NF, today — Thursday, May 20th — is NF Awareness Day.

NF Awareness Day

Neurofibromatosis (NF) is a genetically inherited disorder that predisposes individuals to the development of a variety of benign and malignant tumors in the central and peripheral nervious systems. The disorder affects neural crest cells and causes tumors to grow along various types of nerves and can also affect the development of bones and skin.

Neural crest cells: specialized cells that contribute to the formation of multiple tissues, including sensory nerves, the enteric nervous system that controls the gut, pigment cells of the skin, various skeletal and connective tissue of the head, and part of the valves and blood vessels of the heart. During early development, neural crest cells — a transient, multipotent cell population — migrate to many different locations and differentiate into many cell types within the embryo.

The Children’s Tumor Foundation (CTF) is the leading non-governmental funder of scientific research into neurofibromatosis. The CTF has funded NF research for over 25 years with the goal of identifying NF drug therapies and improving the lives of those living with the disorder. The Foundation also endeavors to increase public awareness of NF and provides resources for NF patients and their families. Straight from the CTF, here are ten things to be aware of about NF:

Traditional ‘Heel Stick’ Test Is Not an Effective Screening Tool for CMV in Newborns

April 13, 2010 | by

A routine screening test for several metabolic and genetic disorders in newborns, the heel-stick procedure, is not effective in screening for cytomegalovirus (CMV) infection, a leading cause of hearing loss in children, according to research published in the April 14 online issue of the Journal of the American Medical Association.

About 20,000-30,000 infants are born infected with CMV each year, 10-15 percent of whom are at risk for eventually developing hearing loss.

The study, funded by the National Institute on Deafness and Other Communication Disorders (NIDCD), one of the National Institutes of Health, is part of a multicenter research project headed by the University of Alabama at Birmingham that is seeking to find the most effective screening test for CMV infection in newborns. The standard method for detecting CMV infection in newborns is labor-intensive and not conducive to a widespread screening program.

Childhood Asthma Treatment: Not One-Size-Fits-All

March 2, 2010 | by

A new study has found the addition of long-acting beta-agonist therapy to be the most effective of three step-up, or supplemental, treatments for children whose asthma is not well controlled on low doses of inhaled corticosteroids alone.

The study was designed to provide needed evidence for selecting step-up care for such children and was supported by the National Heart, Lung, and Blood Institute (NHLBI), part of the National Institutes of Health. Researchers also identified patient characteristics, such as race, that can help predict which step-up therapy is more likely to be the most effective for a child with persistent asthma.

The study found that almost all of its participants had a different response to the three different treatments. Although adding the long acting beta-agonist step-up was one and one-half times more likely to be the best treatment for most of the study group, many children responded best to other two treatments instead.

The results were presented March 2 at the American Academy of Asthma, Allergy and Immunology 2010 Annual Meeting in New Orleans and are published online in the New England Journal of Medicine.

NIH Scientists Identify Maternal and Fetal Genes That Increase Preterm Birth Risk

February 4, 2010 | by

Researchers at the National Institutes of Health have identified DNA variants in mothers and fetuses that appear to increase the risk for preterm labor and delivery. The DNA variants were in genes involved in the regulation of inflammation and of the extracellular matrix, the mesh-like material that holds cells within tissues.

“A substantial body of scientific evidence indicates that inflammatory hormones may play a significant role in the labor process,” said Alan E. Guttmacher, M.D., acting director of the NIH’s Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). “The current findings add evidence that individual genetic variation in that response may account for why preterm labor occurs in some pregnancies and not in others.”

NHLBI Funds Preclinical Tests on Devices for Infants and Children with Congenital Heart Defects

February 4, 2010 | by

The National Heart, Lung, and Blood Institute (NHLBI), part of the National Institutes of Health, has awarded four contracts totaling $23.6 million to begin preclinical testing of devices to help children born with congenital heart defects or those who develop heart failure. The four-year program is called Pumps for Kids, Infants, and Neonates (PumpKIN).

Each year in the United States, nearly 1,800 infants die as a result of congenital heart defects and another 350 develop heart disease, which leads to heart failure for many. Approximately 60 infants and children under 5 years old who are placed on the heart transplant waiting list die each year before receiving one. Mechanically assisted circulatory support could be used to sustain these young patients as they seek to recover or wait to receive a heart transplant.