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Tag: "congenital" at biology news

UT Southwestern researchers find gene mutation that leads to 'broken hearts'

...n the complex process of heart formation result in congenital heart defects, the most common birth defects in hu...e biochemical pathway in human heart formation and congenital heart disease. "We were surprised to discover that a group of enzymes involved in lipid synthesis...

Ultrasound may help regrow teeth

... jaw growth in cases with hemifacial microsomia, a congenital syndrome where one side of the child's jaw or face is underdeveloped compared to the other, normal, side. These patients usually undergo many surgeries to improve their facial appearance. This work on human patients was presented at the World Federat...

UF scientists test improved gene therapy method for hereditary heart conditions

...ardiovascular conditions linked to faulty genes or congenital metabolic diseases, including atherosclerosis, stroke, muscular dystrophy and an enlargement of the heart muscle known as dilated cardiomyopathy. But efforts to begin testing it in people have been slowed by the need to find ways to deliver correct...

Man-made heart tissue improves cardiac performance

...treat cases of myocardial infarction and to repair congenital heart defects, as well as in the use of drug development to provide insight into cardiac developmental biology. ...

Congenital rubella syndrome nearly eradicated in the US

...s no longer an endemic disease in this country and congenital rubella syndrome "is almost a thing of the past in... from rubella may include blindness, deafness, and congenital heart disease. A rubella epidemic in the early 1960s caused more than 11,000 fetal deaths and 20,000...

How can we protect patients with weakened immune systems from influenza?

...ients has chromosome 22q.11.2 deletion syndrome, a congenital multisystem disorder that impairs the immune system. Children's Hospital is a world leader in studying and treating this syndrome. Three projects involving adults are led by researchers in the University of Pennsylvania Health System. Two projects i...

Cholesterol gets 'thumbs up' for role in digit development

...ncer and a condition known as holoprosencephaly, a congenital malformation of the forebrain. Chiang is currently examining the role of cholesterol-modified Sonic hedgehog in the developing brain and spinal cord. "We are finding some surprises,"Chiang said, "suggesting that the function of cholesterol is dif...

Unique equine cataract surgery offered on routine basis

... (ILPH). Cataracts develop because of hereditary, congenital and ageing factors and as a consequence of injury or ophthalmic disease. The latter causes are largely unsuitable for the treatment because previously attempted procedures carried a high complication rate. To achieve the best results, the surgeo...

Infused spleen cells found not to impact islet recovery and reversal of type 1 diabetes in mice

...ndard methods. Hirschsprung disease, also known as congenital megacolon, is a relatively common birth defect marked by bowel obstruction. MEN2 is an inherited predisposition to neuroendocrine cancers. The notion that mutations in enhancers play a role in human disease progression has been difficult to confirm ...

Junk DNA may not be so junky after all

...ndard methods. Hirschsprung disease, also known as congenital megacolon, is a relatively common birth defect marked by bowel obstruction. MEN2 is an inherited predisposition to neuroendocrine cancers. The notion that mutations in enhancers play a role in human disease progression has been difficult to confirm ...

Birth defects: 8 million annually worldwide

...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 w...

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...

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 interventi...

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...

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...

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 mys...

Researchers develop gene therapy to reverse pulmonary arterial hypertension

...oral therapy has already been tried in humans with congenital mitochondrial diseases, the team is initiating a clinical trial in human PAH. Similarly, newer drugs that inhibit Survivin, currently in trials in oncology, might also be directly applicable to PAH patients, Dr. Michelakis explains. The researchers ...

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, i...

MicroRNA tweaks protein that controls early heart development

...ortant to understanding both stem cell biology and congenital heart disease. In order for cells to produce the ...ch team is currently screening human patients with congenital heart disease for mutations in the gene miR-1 to determine what health effects such a mutation might...

Researchers track down cause of a disfiguring bone disorder

...s in distant regulatory elements are able to cause congenital abnormalities analogous to coding (gene) mutations." "Human genetic diseases of the skeleton such as sclerosteosis and Van Buchem disease provide a starting point for understanding the modulation of anabolic bone formation," noted team members Micha...

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