Smartphones para medir la deformación craneal de lactantes y mejorar su diagnóstico.#plagiocefalia

Originally posted 2017-06-19 15:44:42.

Investigadores de la Universitat Politècnica de València (UPV) y el Instituto de Investigación Sanitaria La Fe han desarrollado un nuevo sistema de bajo coste y no invasivo, basado en el uso de teléfonos inteligentes, ‘smartphones’, para medir la deformación craneal en lactantes, desde neonatos hasta bebés de 12 meses.

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Genes implicated in rare pediatric #epilepsy contribute to common forms of disorder, study finds

Originally posted 2017-01-12 15:48:43.

An international study led by Columbia University Medical Center (CUMC) and NewYork-Presbyterian researchers has found that several genes previously implicated only in rare, severe forms of pediatric epilepsy also contribute to common forms of the disorder.

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Scientists map genetic changes that help drive aggressive #braintumor

Originally posted 2017-06-13 16:04:47.

University of North Carolina Lineberger Comprehensive Cancer Center researchers and collaborators have mapped genetic changes that help drive an aggressive tumor as it develops in the brain – helping to lay the foundation for targeted treatment of the disease.

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Researchers uncover cell membrane protein that regulates gene linked to #schizophrenia

Originally posted 2017-01-12 15:47:25.

Researchers from the University of California, San Diego, have identified a protein that regulates a gene associated with schizophrenia. The study, published in the Journal of Neurophysiology, was chosen as an APS​select article for January.

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What are the Stages of Alzheimer’s Disease? – Medical News Today

Originally posted 2017-01-12 15:48:00.

Alzheimer’s disease is a progressive degenerative disorder that becomes worse over time. It involves a gradual loss of memory, as well as changes in behavior, thinking, and language skills.Although every person experiences Alzheimer’s differently, the way in which the disease progresses can be grouped into a series of stages.It is important to make sure that someone with dementia lives well with the condition and that their needs are met, rather than focusing on what stage they might be in.

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Reverse Pathway Genetic Approach Identifies #Epistasis in #Autism Spectrum Disorders

Originally posted 2017-01-12 15:35:57.

Although gene-gene interaction, or epistasis, plays a large role in complex traits in model organisms, genome-wide by genome-wide searches for two-way interaction have limited power in human studies. We thus used knowledge of a biological pathway in order to identify a contribution of epistasis to autism spectrum disorders (ASDs) in humans, a reverse-pathway genetic approach. Based on previous observation of increased ASD symptoms in Mendelian disorders of the Ras/MAPK pathway (RASopathies), we showed that common SNPs in RASopathy genes show enrichment for association signal in GWAS (P = 0.02). We then screened genome-wide for interactors with RASopathy gene SNPs and showed strong enrichment in ASD-affected individuals (P < 2.2 x 10−16), with a number of pairwise interactions meeting genome-wide criteria for significance. Finally, we utilized quantitative measures of ASD symptoms in RASopathy-affected individuals to perform modifier mapping via GWAS. One top region overlapped between these independent approaches, and we showed dysregulation of a gene in this region, GPR141, in a RASopathy neural cell line. We thus used orthogonal approaches to provide strong evidence for a contribution of epistasis to ASDs, confirm a role for the Ras/MAPK pathway in idiopathic ASDs, and to identify a convergent candidate gene that may interact with the Ras/MAPK pathway.

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Mediterranean Plants May Fight Alzheimer’s, #Parkinson’s: #Neurodegenerative Diseases Treatment Update. #Alzheimer

Originally posted 2017-01-12 15:47:12.

 

The Mediterranean diet has been linked to significant health benefits for years, such as lowered blood pressure, and now new research has found that chemicals extracted from two plants found in the region — the prickly pear and brown seaweed — could potentially combat Alzheimer’s and Parkinson’s diseases.

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Study details molecular roots of #Alzheimer’s

Originally posted 2017-01-11 09:20:14.

Scientists at Washington University School of Medicine in St. Louis have detailed the structure of a molecule that has been implicated in Alzheimer’s disease. Knowing the shape of the molecule—and how that shape may be disrupted by certain genetic mutations—can help in understanding how Alzheimer’s and other neurodegenerative diseases develop and how to prevent and treat them.

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Novel technique could help discover genes linked to complex traits in any animal model. #autism

Originally posted 2016-07-05 12:46:55.

Mice are one of the most commonly used laboratory organisms, widely used to study everything from autism to infectious diseases. Yet genomic studies in mice have lagged behind those in humans.

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Una luz en el Síndrome de #Angelman

Originally posted 2016-07-05 06:56:57.


La publicación de este artículo tiene como objetivo abrir ventanas de esperanza a esas puertas que se cierran para las familias, especialmente para los padres, cuando un niño es diagnosticado de Síndrome de Angelman. Aquí están los testimonios de Mario, sus padres y de Ana María Laza Alonso, una de las profesionales que lo atiende.

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