News tagged with defects
New findings on protein misfolding
Misfolded proteins can cause various neurodegenerative diseases such as spinocerebellar ataxias (SCAs) or Huntington's disease, which are characterized by a progressive loss of neurons in the brain. Researchers of the Max ...
Genetics
Sep 18, 2012 |
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Tafamidis: Approval denotes proven added benefit
Tafamidis meglumine (trade name: Vyndaqel) was approved in November 2011 for the treatment of transthyretin amyloidosis in adults. This rare disorder ("orphan disease") is caused by a defective gene and is associated with ...
Medications
Sep 17, 2012 |
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Identification of newborn congenital ear deformities allows for timely, non-surgical correction
(Medical Xpress)—Enlisting newborn hearing screeners to help identify common ear deformities allows doctors to easily correct the condition without surgery before a baby leaves the hospital, according to ...
Diseases, Conditions, Syndromes
Sep 17, 2012 |
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Scientists map the genomic blueprint of the heart
Scientists at the Gladstone Institutes have revealed the precise order and timing of hundreds of genetic "switches" required to construct a fully functional heart from embryonic heart cells—providing new ...
Medical research
Sep 13, 2012 |
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First pediatric study to look at the role of vitamin D in critical illness
Vitamin D is increasingly being recognized as important for good health. Vitamin D is a hormone made in the skin following sun exposure or acquired from diet and supplement intake. Previous medical research has shown that ...
Pediatrics
Sep 12, 2012 |
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Researchers use gene therapy to restore sense of smell in mice
(Medical Xpress)—A team of scientists from Johns Hopkins and other institutions report that restoring tiny, hair-like structures to defective cells in the olfactory system of mice is enough to restore a ...
Medical research
Sep 11, 2012 |
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Study: Blocked ionic channels prevent cellular development, cause birth defects
(Medical Xpress)—The cellular cause of birth defects like cleft palates, missing teeth and problems with fingers and toes has been a tricky puzzle for scientists.
Medical research
Sep 11, 2012 |
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Computer simulations could lead to better cardiac pump for children with heart defects
Structural and mechanical engineers at the University of California, San Diego, are working together to create blood flow simulations that could lead to improvements in the design of a cardiac pump for children ...
Cardiology
Sep 10, 2012 |
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Congenital disease linked to adipocyte development
(HealthDay)—Some patients with congenital generalized lipodystrophy (CGL), who lack adipocytes and develop severe insulin resistance, have a defect in adipocyte development that can be partially reversed, ...
Diabetes
Sep 07, 2012 |
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Prenatal diagnosis of congenital heart disease increases maternal stress, depression, and anxiety
Heart defects are the most common form of congenital malformations affecting newborns. Infants who were prenatally diagnosed with congenital heart disease (CHD) are more stable and have better outcomes than infants who were ...
Pediatrics
Sep 07, 2012 |
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Gene therapy restores sense of smell, may aid research into other diseases caused by cilia defects
Scientists have restored the sense of smell in mice through gene therapy for the first time—a hopeful sign for people who can't smell anything from birth or lose it due to disease.
Medical research
Sep 02, 2012 |
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German drug firm makes 1st apology for thalidomide (Update)
(AP)—The German manufacturer of a notorious drug that caused thousands of babies to be born with shortened arms and legs, or no limbs at all, issued its first ever apology Friday—50 years after pulling ...
Medications
Aug 31, 2012 |
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Too much protein HUWE1 causes intellectual disability
Two to three percent of the children are born with an intellectual disability. Possibly by a genetic defect, but in 80% of these cases, we do not know – yet - which genes are responsible. VIB researchers at KU Leuven show ...
Genetics
Aug 31, 2012 |
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Vitamin B12 deficiency: Tracking the genetic causes
Vitamin B12 is essential to human health. However, some people have inherited conditions that leave them unable to process vitamin B12. As a result they are prone to serious health problems, including developmental delay, ...
Genetics
Aug 26, 2012 |
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Manipulating the microbiome could help manage weight
Vaccines and antibiotics may someday join caloric restriction or bariatric surgery as a way to regulate weight gain, according to a new study focused on the interactions between diet, the bacteria that live in the bowel, ...
Immunology
Aug 26, 2012 |
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