The same genetic defect that causes a rare respiratory disease may also lead to some types of congenital heart disease, according to a study from the University of North Carolina at Chapel Hill School of Medicine.
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Adults with aortic valve disorder do not experience reduction in survival rate
Young adults with a bicuspid aortic valve, a congenital heart abnormality, experience subsequent cardiac events but do not appear to have lower survival rates compared to the general population, according to a study in the September 17 issue of
JAMA.
Stem cell regeneration repairs congenital heart defect
Mayo Clinic investigators have demonstrated that stem cells can be used to regenerate heart tissue to treat dilated cardiomyopathy, a congenital defect. Publication of the discovery was expedited by the editors of
Stem Cells and appeared online in the "express" section of the journal's Web site at
http://stemcells.alphamedpress.org/.
Aberrations in region of chromosome 1q21.1 associated with broad range of disorders in children
Researchers have discovered a submicroscopic aberration in a particular region of human chromosome 1q21.1 that appears to be associated with a variety of developmental disorders in children. The aberration can manifest itself as unexplained mild or moderate mental retardation, growth retardation, learning disabilities, seizures, autism, heart defects, other congenital abnormalities, cataracts, small head size, unusual facial features, hand deformities, or skeletal problems. Some people who have the aberration are only slightly affected or apparently unaffected, others are more seriously impaired.
70 years old and going strong with Down syndrome and no dementia
In the world of Down syndrome, 'Mr. C' is a rarity. A real person whose progress has been tracked for the past 16 years, at seventy, 'Mr. C' has well surpassed the average life expectancy of a person with Down syndrome, currently in the late fifties, but in the teens when 'Mr. C' was born. Further, 'Mr. C' does not exhibit clinical symptoms of Alzheimer's disease, which is almost a given for people with typical Down syndrome over 65 yeas of age.
More aortic chest aneurysms being treated with less-invasive stents
An estimated 60,000 Americans are walking around with time bombs in their chests called thoracic aortic aneurysms. At any time, their main chest artery could suddenly burst open, causing massive internal bleeding that is almost always fatal.
Researchers define characteristics, treatment options for XXYY syndrome
Researchers at the UC Davis M.I.N.D. Institute and The Children's Hospital in Denver have conducted the largest study to date describing the medical and psychological characteristics of a rare genetic disorder in which males have two "X" and two "Y" chromosomes, rather than the normal one of each. The study, published in the June 15, 2008, issue of the
American Journal of Medical Genetics Part A, also offers treatment recommendations for men and boys with the disorder.
Combining medical knowledge to save lives
European researchers hope to gain more insight into cardiovascular disease by combining clinical, laboratory and metabolic records with genomic data.
Cardiovascular disease (CVD) is the biggest killer among chronic diseases, claiming 17 million lives globally every year. Yet doctors can only attribute 50% of cardiovascular diseases to known risk factors.
Scientists develop a mouse model of sudden infant death syndrome
Sudden Infant Death Syndrome (SIDS) is a condition that unexpectedly and unexplainably takes the lives of seemingly healthy babies aged between a month and a year. Now researchers of the European Molecular Biology Laboratory in Monterotondo, Italy, have developed a mouse model of the so-called crib or cot death, which remains the leading cause of death during the first year of life in developed countries. The model, published in this week's issue of
Science, reveals that an imbalance of the neuronal signal serotonin in the brainstem is sufficient to cause sudden death in mice.