Mutations in NOTCH1 gene cause aortic valve disease
...they are born with one of the most severe types of congenital heart disease, which accounts for a quarter of all children who die from heart disease," said Dr. Deepak Srivastava, senior author of the paper. Dr. Srivastava is a former professor of pediatrics and molecular biology at UT Southwestern, where he and...GSK nonpeptide oxytocin receptor antagonists damp contractions in late-term rat pregnancy
...or 4,400 or 15.7% of infant deaths, second only to congenital disorders with 5,750; third was Sudden Infant Death Syndrome with 2,520. There is considerable evidence indicating that oxytocin (OT) plays an important role in pre-term labor, especially causing contractions of the myometrial muscles. OT receptor...Researchers figure out how hearts fail
.... Heart failure can be brought on by heart attack, congenital heart defects, viral infections, hypertension and more. Because of this, Lopaschuk, an expert in regulatory pathways involved in energy metabolism in the heart, worked with his colleagues to find out how metabolic pathways differ between healthy and ...The AIUM releases new statement regarding keepsake imaging
... recognize medically important conditions, such as congenital anomalies, artifacts associated with ultrasound scanning that may mimic pathology, and techniques to avoid ultrasound exposure beyond what is considered safe for the fetus. Any other use of "limited medical ultrasound" may constitute practice of medi...UCLA researchers identify key enzyme linked to childhood blindness
...n findings that could lead to curing some forms of congenital blindness through gene therapy, researchers at UCL...ng in infants born with the blinding disease Leber congenital amaurosis, is also a key enzyme in the visual cycle. The identity of this enzyme has long been a my...No small feat: First ever gene therapy success for muscular dystrophy achieved
...eve success with gene therapy for the treatment of congenital muscular dystrophy (CMD) in mice, demonstrating th...both the general health and longevity in mice with congenital muscular dystrophy," said Dr. Xiao. The most common form of CMD, and also one of the most severe, is...International stem cell meeting in Kobe, Japan
...e functioning of organs and tissues afflicted with congenital conditions or the ravages of injury, disease or age. It is a dynamic research field with great promise and hopes, delivering many new and, at the same time, provocative insights. The aim of the workshop is to review the current understanding of the r...Chernobyl: The true scale of the accident
...d, nor has there been any evidence of increases in congenital malformations that can be attributed to radiation ...children. A modest but steady increase in reported congenital malformations in both contaminated and uncontaminated areas of Belarus appears related to better rep...Cells from amniotic fluid used to tissue-engineer a new trachea
... born prematurely and did not survive.) While many congenital defects can be safely repaired after birth, Fauza'...sing similar techniques in newborn lambs to repair congenital diaphragmatic hernia (CDH), or a hole in the diaphragm that separates the lungs from the visceral or...UCI nurses receive $2.7 million to study exercise and impact on growth in premature babies
...y 16 ounces or less at birth, infants with complex congenital heart disease and infants with serious congenital malformations....FSU biologists describe key role of signal-transcribing gene during cell cycle
...nd neuromuscular diseases; the most common complex congenital heart disorder; and later life ills such as Alzhei... mechanisms there are linked in humans to specific congenital and later life disorders. "With further study, these findings may aid the development of interventio...Sight can recover quickly in amblyopia
...ds of visual deprivation, as occurs in the case of congenital cataracts. These patients, who typically undergo eye operations within the first one or two months of postnatal life, were found to start recovering visual acuity as early as 1 hr after restoration of normal visual input. Our findings suggest a neuro...Cornell finds natural selection in humans
...hy and in Usher syndrome, the most common cause of congenital blindness and deafness in developed countries. "We have a long way to go before we can predict from looking at sequences, which mutations in which genes and under which environmental conditions can ultimately lead to disease. This is a first step in ...Combination therapy for mouse model of human inherited blindness
...sfully testing two novel treatments in mice. Leber congenital amaurosis (LCA) is characterized by severe loss of vision at birth, but its causes are not fully understood. Researchers believe that the disease might be due to abnormal development of photoreceptor cells in the retina, extremely premature degenerat...Transporters for the brain chemical serotonin provide
...embryology concerned with abnormal development and congenital malformations). In previous studies, Dr. Levin found that frog embryos contain a supply of serotonin provided in the egg by the mother. This maternal serotonin functions during the first few cell divisions and then is degraded by an enzyme, monoamine...UT Southwestern scientist receives international award for pediatric research
...rol formation of the heart, providing insight into congenital heart disease and possible diagnosis and treatment...h have advanced our understanding of the causes of congenital cardiac anomalies and their treatment," said Dr. Herbert Pardes, president and chief executive offic...A crucial role for TGFbeta signaling in congenital eye disorders
...orders. These findings shed light on the origin of congenital eye disorders that can give rise to glaucoma and blindness: Axenfeld-Rieger's anomaly and persistent hyperplastic primary vitreous. Lukas Sommer, from the Institute of Cell Biology at the ETH in Zurich, Switzerland, heading an international team incl......verely impacts the heart's structure, resulting in congenital heart defects. These findings were published in t...rus. According to the American Heart Association, congenital heart disease affects about 35,000 infants each year, and claims the lives of "nearly twice as many ......bout 26 percent of all such birth defects in 2001: congenital heart defects (1,040,865 births); neural tube defe...etal alcohol syndrome, iodine deficiency disorder, congenital rubella syndrome, and congenital syphilis were not generated for this report. "If these figures we...