martes, 28 de febrero de 2017

Clinical and biological progress over 50 years in Rett syndrome : Nature Reviews Neurology : Nature Research

Clinical and biological progress over 50 years in Rett syndrome : Nature Reviews Neurology : Nature Research



Clinical and biological progress over 50 years in Rett syndrome

Nature Reviews Neurology
 
13,
 
37–51
 
 
doi:10.1038/nrneurol.2016.186
Published online
 

Abstract

In the 50 years since Andreas Rett first described the syndrome that came to bear his name, and is now known to be caused by a mutation in the methyl-CpG-binding protein 2 (MECP2) gene, a compelling blend of astute clinical observations and clinical and laboratory research has substantially enhanced our understanding of this rare disorder. Here, we document the contributions of the early pioneers in Rett syndrome (RTT) research, and describe the evolution of knowledge in terms of diagnostic criteria, clinical variation, and the interplay with other Rett-related disorders. We provide a synthesis of what is known about the neurobiology of MeCP2, considering the lessons learned from both cell and animal models, and how they might inform future clinical trials. With a focus on the core criteria, we examine the relationships between genotype and clinical severity. We review current knowledge about the many comorbidities that occur in RTT, and how genotype may modify their presentation. We also acknowledge the important drivers that are accelerating this research programme, including the roles of research infrastructure, international collaboration and advocacy groups. Finally, we highlight the major milestones since 1966, and what they mean for the day-to-day lives of individuals with RTT and their families.

Home : Nature Reviews Neurology

Home : Nature Reviews Neurology

Nature Reviews Neurology

Volume 13, No 2 February 2017

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NOTICEBOARD

Expert consensus document: The central vein sign and its clinical evaluation for the diagnosis of multiple sclerosis: a consensus statement from the North American Imaging in Multiple Sclerosis Cooperative

The central vein sign (CVS) has been proposed as a novel MRI biomarker to improve the accuracy and speed of multiple sclerosis (MS) diagnosis. This Consensus Statement from the NAIMS Cooperative provides a roadmap to help radiologists and neurologists to better understand, refine, standardize and evaluate the CVS in the diagnosis of MS.

Key Advances in Medicine

The Key Advances in Medicine eBook is bursting with information for medical students, physicians and clinical researchers wishing to keep up with the most significant medical breakthroughs of the past year. This eBook, which is free to download for registered users, contains 44 articles summarizing the key clinical and biomedical studies published in 2015 and highlighting the trends to watch out for in 2016.

A Decade in Medicine

The past 10 years have seen great advances in the understanding and treatment of human disease. For expert perspectives on the most important breakthroughs, don't miss the FREE A Decade in Medicine eBook. In this special collection of 47 articles, commissioned to celebrate the 10th anniversary of the launch of the clinical Nature Reviews journals, leading experts highlight the most important advances in eight medical specialties between 2004 and 2015, and comment on future developments in their fields.

10th Anniversary

In November 2015, Nature Reviews Neurology (originally published as Nature Clinical Practice Neurology) celebrates 10 years since the launch of the journal. To mark this occasion, we present an anniversary issue containing specially commissioned articles that highlight progress in neurology over the past decade and outline the research priorities for the next 10 years.

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Produced with financial support from UCB

Orphanet Journal of Rare Diseases | Rare Disease Day 2017

Orphanet Journal of Rare Diseases | Rare Disease Day 2017

Biomed Central

Orphanet Journal of Rare Diseases



Rare Disease Day 2017

New Content Item

This year’s Rare Disease Day is focussing on the theme of research, and we here at Orphanet Journal of Rare Diseases are inspired by its 2017 slogan; ‘With research, possibilities are limitless’. The importance of this truth cannot be overstated, as continual research is necessary in order to unlock the mysteries often presented by rare diseases. In a field where concrete solutions are not immediate, it is essential to mine the different research we already have, to make connections where none existed previously; to complement that information with new findings; and to listen to the voices of rare disease patients, who often provide the foundations of what is known about these medical enigmas.
Take a look below to see our material that fits into this year's theme.


Raremark

Raremark's Sarah Venugopal (Head of Engagement and Communication) speaks to the significance of patient-led research for rare diseases:

Nature Reviews

Nature Reviews Neurology has made the Review from its rare diseases series, Clinical and biological progress over 50 years in Rett syndrome, free for a month in support of Rare Disease Day 2017. Go straight to the article or browse the series.

Findacure Rare Disease Essay Competition

Earlier this year, we partnered with Findacure to run their Student Voice Essay Competition.
Medical and biological undergraduate students across Europe set pen to paper to record their rare disease opinions, experience, and knowledge. 
We’d like to thank everyone who took part in the contest and are proud to present our finalist entries.
Winning Entry
Finalists Entries

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Leaderboard



Springer Healthcare IME

We are pleased to announce the launch of a new independent educational resource created by Springer Healthcare IME for the rare disease, Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID).
New Horizons in the Management of ADA-SCID is an independent initiative steered by an editorial board of multidisciplinary experts: Andrew Gennery, Robbert Bredius and Bobby Gaspar.
Launched on Rare Disease Day 2017, the ADA-SCID portal is designed to educate healthcare professionals who are presented with ADA-SCID patients, in the biology of the disease, how to screen for it, and current and emerging treatments.
New Horizons in the Management of ADA-SCID aims to facilitate this understanding by providing direct access to the latest research and commentary in the form of:
·         Independent editorials
·         Published articles
·         Expert interviews
·         Webinars
·         Case studies
In addition, a new Orphanet Journal of Rare Diseases review on ADA-SCID will appear on the portal before the end of 2017.  Please visit the site today and sign up to receive an email alert when more educational content is added.
New Horizons in the Management of ADA-SCID is produced by Springer Healthcare IME and supported by an educational grant from GlaxoSmithKline.

Supporting Rare Disease Day 2017

BioMed Central – The Open Access Publisher
BioMed Central is proud to support Rare Disease Day 2017
Dear Prof CERASALE MORTEO,

This year’s Rare Disease Day is focussing on the theme of research, and we here at Orphanet Journal of Rare Diseases are inspired by its 2017 slogan; ‘With research, possibilities are limitless’.
Take a look at all our favorite picks for the day on our Rare Disease Day homepage, including a new OJRD article and several blog pieces, curated from Findacure’s “The Student Voice” essay competition; a new rare disease quiz; a piece from our Editor-in-Chief Dr. Ségolène Aymé; and a collection of OJRD articles which tie into this year’s Rare Disease Day theme.

Also in support of Rare Disease Day, Nature Reviews Neurology has made the Review from its rare diseases series, Clinical and biological progress over 50 years in Rett syndrome, free for a month.

Get the latest journal articles delivered straight to your inbox.

Best wishes,

The BioMed Central Team

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DOCUMENTOS TOTALES CONSULTADOS ► ¡19.142.958 
ÍNDICE DE SEGUIMIENTO ► 55
ÍNDICE DE CONSULTA ► 74,57

SABIDURÍA implica HUMILDAD

CIENCIAS MÉDICAS NEWS
CIENCIAS MÉDICAS APLICADAS
RESEARCH & CLINICAL DEVELOPMENT
SABIDURÍA implica HUMILDAD
Abū'r-Raihān Muhammad ibn Ahmad al-Bīrūnī

EL BIRUNI: DIRECTORIO DE DOCUMENTOS EDITADOS EN FEBRERO de 2017[*]
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► Iniciado en enero de 2009:
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► Iniciado en abril de 2008:
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Páginas vistas por países

Gráfico de los países más populares entre los lectores del blog
EntradaPáginas vistas
Estados Unidos
3.575.388
Alemania
471.044
Ucrania
397.560
Francia
353.270
Rusia
221.984
Noruega
109.888
Argentina
100.446
Irlanda
99.073
Reino Unido
98.838
China
80.274

Contador Google ►

TOTAL DOCUMENTOS CONSULTADOS desde enero 2009 a la fecha7.283.283+
DOCUMENTOS CONSULTADOS EN El grupo de blog´s de SALUD EQUITATIVA desde 2009 hasta hoy19.142.958
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El Blog se rige por la información Google.
Google registra ► [datos al 28/02/2017]
Páginas vistas en el último mes: 98.037
Páginas totales vistas en el último mes: 350.883
Páginas vistas (historial completo):    7.283.283+
Documentos editados durante el mes de FEBRERO de 20171.161+
Documentos editados acumulados durante 20172.301+

Documentos editados desde el inicio del blog: 88.772+
Documentos totales editados en los blog´s ► 256.677+

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