Kids with neurological conditions at higher risk of flu death: CDC
(HealthDay)—Children with neurologic disorders such as cerebral palsy, intellectual disability or epilepsy are at increased risk of dying from flu, a new study says.
Pediatrics
Aug 30, 2012 |
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Early menopause in mice: A model of human POI
(Medical Xpress)—Scientists have established a genetic mouse model for primary ovarian insufficiency (POI), a human condition in which women experience irregular menstrual cycles and reduced fertility, ...
Genetics
Aug 30, 2012 |
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New research re-introduces athletes with learning difficulties into the Paralympic Games
As a result of extensive research and a robust new classification system conducted by academics at Canterbury Christ Church University, athletes are now eligible to compete again in the London 2012 Paralympics.
Other
Aug 22, 2012 |
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Cornelia deLange syndrome: Mutations disrupt cellular recycling and cause childhood genetic disease
Genetics researchers have identified a key gene that, when mutated, causes the rare multisystem disorder Cornelia deLange syndrome (CdLS). By revealing how mutations in the HDAC8 gene disrupt the biology of proteins that ...
Genetics
Aug 12, 2012 |
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Fragile X and Down syndromes share signalling pathway for intellectual disability
Intellectual disability due to Fragile X and Down syndromes involves similar molecular pathways report researchers in The EMBO Journal. The two disorders share disturbances in the molecular events that regula ...
Genetics
Aug 03, 2012 |
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Children with disabilities four times as likely be to victims of violence as children who are not disabled
About 5% of children worldwide (around 93 million children) have a moderate or severe disability. Although children with disabilities are thought to be at greater risk of violence, this is the first study to quantify the ...
Health
Jul 11, 2012 |
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Scientists identify gene linked to facial, skull and cognitive impairment
A gene whose mutation results in malformed faces and skulls as well as mental retardation has been found by scientists.
Genetics
Jul 05, 2012 |
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Exome sequencing gives cheaper, faster diagnosis in heterogeneous disease
Nuremberg, Germany: The first report of the diagnostic use of the technique of exome sequencing, where short sequences of DNA are analysed, shows that it can give good results at low cost, a researcher from The Netherlands ...
Genetics
Jun 25, 2012 |
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Genome-wide analysis shows previously undetected abnormalities in parents of affected children
The use of genome-wide array analysis in parents whose children are suspected of having a genetic disease shows that the parents frequently also have previously undetected genetic abnormalities, a researcher from The Netherlands ...
Genetics
Jun 24, 2012 |
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Fragile X gene's prevalence suggests broader health risk
The first U.S. population prevalence study of mutations in the gene that causes fragile X syndrome, the most common inherited form of intellectual disability, suggests the mutation in the gene – and its associated health ...
Genetics
Jun 14, 2012 |
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Folic acid intake associated with reduced risk of autism: study
(Medical Xpress) -- A new study by researchers at the UC Davis MIND Institute suggests that women who consume the recommended daily dosage of folic acid, the synthetic form of folate or vitamin B-9, during the first month ...
Autism spectrum disorders
Jun 14, 2012 |
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Brain cell activity imbalance may account for seizure susceptibility in Angelman syndrome
New research by scientists at the University of North Carolina School of Medicine may have pinpointed an underlying cause of the seizures that affect 90 percent of people with Angelman syndrome (AS), a neurodevelopmental ...
Neuroscience
Jun 06, 2012 |
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Mice with big brains provide insight into brain regeneration and developmental disorders
Scientists at the Ottawa Hospital Research Institute (OHRI) and the University of Ottawa (uOttawa) have discovered that mice that lack a gene called Snf2l have brains that are 35 per cent larger than normal. ...
Genetics
May 15, 2012 |
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Evolution's gift may also be at the root of a form of autism
A recently evolved pattern of gene activity in the language and decision-making centers of the human brain is missing in a disorder associated with autism and learning disabilities, a new study by Yale University researchers ...
Genetics
May 10, 2012 |
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Sequencing works in clinical setting to help -- finally -- get a diagnosis
Advanced high-speed gene-sequencing has been used in the clinical setting to find diagnoses for seven children out of a dozen who were experiencing developmental delays and congenital abnormalities for mysterious reasons.
Pediatrics
May 08, 2012 |
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