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Tag: "syndrome" at biology news

Researchers link two more genes to sudden infant death syndrome

...the list of potential links to sudden infant death syndrome (SIDS), increasing the possibility that genetic de...genes that cause a potentially lethal heart rhythm syndrome known as long QT syndrome (LQTS) was found in 5 percent to 10 percent of SIDS cases. In collaborat...

How IVF could be causing genetic errors in embryos

...lture in vitro," said Professor Rinaudo. Angelman syndrome is characterised by severe mental retardation, spe...000 to 30,000 of the population. Beckwith Wiedeman syndrome is characterised by overgrowth, with an abnormally large tongue, umbilical hernia, neonatal hypoglyc...

Ultrasound may help regrow teeth

... 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 Federation of Or...

New pathways for autoimmune treatment identified

...ng or preventing APS1, or autoimmune polyglandular syndrome type 1, and potentially other autoimmune diseases as well, researchers report in the June issue of Nature Medicine. "The body should maintain a balance between killing and suppression," says Dr. Qing-Sheng Mi, immunologist and lead and co-senior au...

Scientist-astronaut sends T-cells into space

...that are the symptoms of acquired immunodeficiency syndrome (AIDS). The problem of immunosuppression in microgravity was first noted during the Apollo moon mission series in the 1960s and 1970s, when 15 out of 29 Apollo astronauts developed infections during their missions or soon after landing. Subsequent...

Gene discovery may shed light on kidney disease

...malities in patients and families. "While Alagille syndrome is relatively rare, organ diseases are not rare, a... mutations in the JAG1 gene as a cause of Alagille syndrome in 1997. Like the NOTCH2 gene analyzed in the current study, JAG1 is part of a signaling pathway tha...

Researches discover gene critical for protection against septic-shock-induced death

...esponse, the body's first line of defense. "Sepsis syndrome is like a speeding car with a brake failure. Nrf2 may function like a brake that regulates the speed," said Biswal, senior author of the study and assistant professor in the Bloomberg School's Department of Environmental Health Sciences. Biswal specu...

Congenital rubella syndrome nearly eradicated in the US

...mic disease in this country and congenital rubella syndrome "is almost a thing of the past in the United State... unborn babies. "Effectively, congenital rubella syndrome has been nearly eradicated from the United States," according to the statement. There were fewer tha...

Mayo Clinic researchers challenge sepsis theory

...efine a new "first step" that initiates the sepsis syndrome cycle. In this step, a critical receptor for bacte...ophic cascade of events that is sepsis. The sepsis syndrome can occur during a bacterial infection, as the accepted medical principle holds, or -- as the Mayo C...

Removing DNA repair gene causes metabolic syndrome

... to study individuals suffering from the metabolic syndrome with the goal of someday developing a genetic screen for the disease. He also wants to examine ways to delay the onset of symptoms, such as increasing the expression of the NEIL1 gene or dampening oxidative stress to the cells that damages their DNA....

Hantavirus found in African wood mouse

...an hantaviruses cause hemorrhagic fever with renal syndrome (HFRS), a group of similar illnesses with symptoms including, fever, kidney failure, and bleeding. The viruses are carried by a number of rodents, including the brown rat, the striped field mouse, and the yellow-necked mouse. If left untreated, morta...

The urban evolution lab

... is a risk factor The fact that patients with Down syndrome get Alzheimer's disease shows that the quantity of...ibutes to the disease: in fact, patients with Down syndrome have 3 copies of the gene (or hereditary code) for the amyloid precursor protein and therefore produ...

Protein 'nanosprings' most resilient found in nature

... gene ankyrin-B to an inherited cardiac arrhythmia syndrome that can lead to sudden death ( http://www.dukemednews.org/news/article.php?id=9389 ). Earlier study of the atomic structure of 12 ankyrin repeats suggested that ankyrin proteins consisting of 24 or more repeats might form a super-helical spiral wit...

Researchers discover a new genetic cause of Alzheimer's disease

... is a risk factor The fact that patients with Down syndrome get Alzheimer's disease shows that the quantity of...ibutes to the disease: in fact, patients with Down syndrome have 3 copies of the gene (or hereditary code) for the amyloid precursor protein and therefore produ...

On a fly's wing, scientists tally evolution's winners and losses

...t otherwise result in cancer (TP53); Smith-Magenis syndrome (SMS), and Charcot-Marie-Tooth type 1A10 (the most common type of inherited nerve disorder [CMT1A]). The study of this chromosome gives a clearer picture of how genome changes through evolution, Lupski said. For example, breaks in synteny or the ma...

Mouse to man: The story of chromosomes

...t otherwise result in cancer (TP53); Smith-Magenis syndrome (SMS), and Charcot-Marie-Tooth type 1A10 (the most common type of inherited nerve disorder [CMT1A]). The study of this chromosome gives a clearer picture of how genome changes through evolution, Lupski said. For example, breaks in synteny or the ma...

Utah researchers confirm chromosome may harbor autism gene

...sabilities to severe cognitive problems. Fragile X syndrome has been shown to overlap with autism, and because FXR1 is similar to the gene that causes the syndrome, U researchers suspected FXR1 might be linked to autism. But after analyzing the entire coding sequence of FXR1, the researchers found no alterati...

Pittsburgh researchers discover that certain chemicals in the blood may indicate brain injury

... other common symptoms. Infants with shaken baby syndrome (SBS) ?the most common cause of severe traumatic brain injuries in young children ?are often misdiagnosed because doctors rarely receive a history that an infant has been shaken, the patients are too young to talk, and the symptoms such as vomiting...

New research demonstrates bone-marrow derived stem cells can reverse genetic kidney disease

...e damaged renal cells in an animal model of Alport syndrome provides a potential new strategy for managing thi... "With no known cure, treatment options for Alport syndrome are limited to kidney transplantation or lifelong dialysis," he adds. "Our lab set out to determine ...

Mouse study reveals human X-SCID gene therapy poses substantial cancer risk

...iency (X-SCID) ?commonly known as the "bubble boy" syndrome ?in small clinical trials being conducted in France, the United States, the United Kingdom, and Australia. Although replacement of IL2RG can cure X-SCID, the Salk scientists urge caution in the use of such therapy on the basis of their new findings....

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