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In the News |
Science Advances from the NHLBI |
On October 15, the House expressed support for research on Diamond-Blackfan anemia (DBA) with the passage of H. Res. 524, a resolution introduced by Representative Carolyn McCarthy (D-NY). The House recognized that research in this area may advance the understanding of DBA, identify implications of cancer predisposition, and serve as an important model for understanding human development and the molecular basis for certain birth defects. The House also commended the Daniella Maria Arturi Foundation and the Diamond-Blackfan Anemia Foundation for their work with the National Institutes of Health and the Centers for Disease Control and Prevention.
NHLBI Director Elizabeth G. Nabel, M.D., was honored to provide an update on COPD research and awareness-building activities to the Congressional COPD Caucus at a Capitol Hill briefing sponsored by the U.S. COPD Coalition. Dr. Nabel shared the dais with Senator Mike Crapo (R-ID) and Representative Cliff Stearns (R-FL), two members of the COPD Caucus, as well as Grace Anne Dorney Koppel, patient advocate and spokesperson for the NHLBI's COPD Learn More Breathe Better campaign.
Hypoplastic left heart syndrome (HLHS) is a severe cardiovascular malformation that is a leading cause of infant mortality and childhood morbidity. In HLHS, the left side of the heart is underdeveloped and the aortic and mitral valves are narrowed or closed completely, impairing the ability of the heart to supply oxygen-rich blood to the body. Research on whether genetics plays a large or relatively minor role in the development of HLHS has been inconclusive.
Investigators supported by the NHLBI examined 38 individuals with HLHS along with several members of their families from three generations to determine whether HLHS is primarily the result of genes passed from parent to child. Results confirmed that many family members of individuals with HLHS also had either HLHS or various other cardiovascular malformations including bicuspid aortic valve (BAV) defect, a less serious cardiovascular abnormality.
HLHS has been considered a candidate for fetal therapy to preempt progression of the disease from a valve disorder to the irreversible underdevelopment of the left side of the heart. However, given the substantial risks involved in fetal intervention therapies, the ability to predict which fetuses will progress to disease, and to personalize their treatment based on their genetic risk factors, is critical. The study provides a foundation on which to begin to determine the genetic information needed to guide treatment decisions. In addition, the findings will allow better genetic counseling for families with a history of HLHS, including early screening and detection of HLHS, BAV, and other cardiovascular malformations.
Sleep apnea in children is associated with repeated stops and starts in breathing caused by obstruction of the airway by soft tissue in the throat. Loud snoring and excessive daytime sleepiness are common symptoms. Apnea exposes children to recurrent episodes of low blood oxygenation and disturbs the normal pattern of sleep, leading to abnormalities in cortisol and growth hormone secretion, impaired glucose metabolism, and increased appetite for carbohydrates. Current evidence suggests that sleep apnea is strongly associated with overweight and obesity, which affect an estimated 15-45 percent of American teenagers.
New findings from an NHLBI-supported urban community-based study of teens indicate that sleep apnea is a risk factor for metabolic syndrome (a constellation of conditions that includes abnormalities in glucose and lipid metabolism). The study assessed obesity, blood pressure, blood sugar, and triglycerides in 270 children ages 13-16 and found that those with sleep apnea were 6.5 times more likely to have metabolic syndrome than those without sleep apnea.
Teenagers with apnea and metabolic syndrome exhibited a greater degree of blood oxygen desaturation and more frequent sleep disturbances than those without metabolic syndrome. They also had higher blood pressures, greater fasting insulin levels indicative of insulin resistance, and elevated levels of low-density lipoprotein cholesterol.
The findings indicate a strong association between metabolic syndrome and sleep apnea in teenagers and underscore the importance of screening for sleep disorders as part of regular healthy-child checkups and as a long-term approach to cardiovascular disease prevention.
Chronic obstructive pulmonary disease (COPD) is a highly prevalent condition and the fourth most common cause of death in the United States. Cigarette smoking is the most significant risk factor for developing COPD, but the level of lung function attained in young adulthood is also a strong predictor and researchers have speculated that a predisposition to COPD may develop even earlier in life.
Results from the NHLBI-funded Tucson Children's Respiratory Study indicate that low lung function in infancy is correlated with impaired lung function in young adulthood. The study enrolled newborns between 1980 and 1984 and followed them for more than 20 years. It found that participants in the lowest quartile of lung function at 2 months of age had persistently lower lung function values through 22 years of age than participants in the upper three quartiles. The study also found that infants in the lowest quartile of lung function had an increased risk of developing respiratory illnesses in the first three years of life relative to the infants with better lung function.
These findings suggest that examination of the mechanisms of low lung function in early life might reveal promising targets for preventive interventions. This work also offers a potentially useful predictive measure for identifying individuals at risk for COPD who might benefit from early preventive and therapeutic interventions.