Ed Sheeran serenades a nine-year-old superfan at her hospital bed  

Rocker Ed Sheeran has made a young superfan's dream come true by visiting her in hospital in Surrey to serenade her. Melody Driscoll, nine, suffers from the rare brain condition, Rett syndrome.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news

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Publication date: Available online 21 June 2019Source: NeuroscienceAuthor(s): Gabriele Ruffolo, Pierangelo Cifelli, Catarina Lourenço, Eleonora De Felice, Cristina Limatola, Ana M. Sebastião, Maria J. Diógenes, Eleonora Aronica, Eleonora PalmaAbstractThe investigation on neurotransmission function during normal and pathologic development is a pivotal component needed to understand the basic mechanisms underlying neurodevelopmental pathologies. To study these diseases, many animal models have been generated which allowed to face the limited availability of human tissues and, as a consequence, the most o...
Source: Neuroscience - Category: Neuroscience Source Type: research
Publication date: Available online 21 June 2019Source: NeuroscienceAuthor(s): Albert Sanfeliu, Walter E. Kaufmann, Michael Gill, Paolo Guasoni, Daniela TropeaAbstractRett Syndrome (RTT) is a neurological disorder mainly associated with mutations in the X-linked gene coding for the methyl-CpG binding protein 2 (MECP2). To assist in studying MECP2's function, researchers have generated Mecp2 mouse mutants showing that MECP2's product (MeCP2) mostly function as a transcriptional regulator. During the last two decades, these models have been used to determine the genes that are regulated by MeCP2, slowly dissecting the aetiolo...
Source: Neuroscience - Category: Neuroscience Source Type: research
(IDIBELL-Bellvitge Biomedical Research Institute) Administration of the amino acid L-serine, a dietary supplement, contributes to the improvement of the communicative and motor skills of a patient with a mutation that alters glutamate receptors.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news
AbstractMeCP2 is an X-linked gene; its mutation causes Rett Syndrome (RTT), a severe neurodevelopmental disability that affects mainly girls. Acting as a transcription factor, the MeCP2 protein is able to regulate several hormone-related genes, such as the thyroid hormones (TH), which are known to play an important role in the development of the central nervous system (CNS). Although only a few studies have associated RTT and TH, TH deficit can lead to neurological deregulation by triggering functional deficiencies during adulthood. Here, we used human-induced pluripotent stem cell (iPSC) to generate MeCP2-knockout neurona...
Source: Molecular Neurobiology - Category: Neurology Source Type: research
ConclusionThese molecular data together with the clinical information enable us to propose a genotype –phenotype correlation, which is essential for providing genetic counseling.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
Abstract Genes and environmental stimuli cooperate in the regulation of brain development and formation of the adult neuronal architecture. Genetic alterations or exposure to perturbing environmental conditions, therefore, can lead to altered neural processes associated with neurodevelopmental disorders and brain disabilities. In this context, environmental enrichment emerged as a promising and noninvasive experimental treatment for favoring recovery of cognitive and sensory functions in different neurodevelopmental disorders. The aim of this review is to depict, mainly through the much explicative examples of amb...
Source: Neural Plasticity - Category: Neurology Authors: Tags: Neural Plast Source Type: research
Source: Developmental Neurorehabilitation - Category: Neurology Authors: Source Type: research
AbstractPurpose of ReviewTo summarize findings about the emergence and characteristics of canonical babbling in children with late detected developmental disorders (LDDDs), such as autism spectrum disorder, Rett syndrome, and fragile X syndrome. In particular, we ask whether infants ’ vocal development in the first year of life contains any markers that may contribute to earlier detection of these disorders.Recent FindingsOnly a handful studies have investigated canonical babbling in infants with LDDDs. With divergent research paradigms and definitions applied, findings on the onset and characteristics of canonical b...
Source: Current Developmental Disorders Reports - Category: Child Development Source Type: research
Objective: We reviewed medical records and conducted a nationwide survey to characterize the clinical features and determine the prevalence of biliary tract disease in girls and women with Rett syndrome (RTT). Methods: Sixty-two individuals with RTT and biliary tract disease were identified from the membership of Rett Syndrome Organization and patient files of the principal investigator. Medical records of 46 individuals were reviewed for presenting features, diagnostic tests, and treatment outcomes of biliary tract disease. We designed a questionnaire that probed the frequency of risk factors and treatment outcomes o...
Source: Journal of Pediatric Gastroenterology and Nutrition - Category: Gastroenterology Tags: Original Articles: Hepatology Source Type: research
Inputs from the ventral hippocampus (vHIP) to the medial prefrontal cortex (mPFC) are implicated in several neuropsychiatric disorders. Here, we show that the vHIP-mPFC projection is hyperactive in theMecp2knockout mouse model of the autism spectrum disorder Rett syndrome, which has deficits in social memory. Long-term excitation of mPFC-projecting vHIP neurons in wild-type mice impaired social memory, whereas their long-term inhibition in Rett mice rescued social memory deficits. The extent of social memory improvement was negatively correlated with vHIP-evoked responses in mPFC slices, on a mouse-per-mouse basis. Acute m...
Source: eLife - Category: Biomedical Science Tags: Neuroscience Source Type: research
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