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

13,

37–51

(2017)

doi:10.1038/nrneurol.2016.186

Published online: 09 December 2016

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

Nature Reviews Neurology

Volume 13, No 2 February 2017

ALSO THIS MONTH

CONFERENCES

For the neurology conference calendar for the coming months, click here.

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The publication of a consensus definition of Parkinson disease (PD) psychosis in 2007 led to a rapid expansion of literature focusing on clinical aspects, mechanisms and treatment. The authors discuss the evolving view of PD psychosis, from distinct classes of symptoms to a continuum progressing over the course of PD.

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Year in Review

CNS Infections in 2016: 2016, the year of Zika virus

Diederik van de Beek & Matthijs C. Brouwer

In 2016, the literature on neurological infections was, understandably, dominated by Zika virus. However, we should not overlook important publications on the treatment of cryptococcal and bacterial meningitis.

CURRENT ISSUE

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Gene discovery in amyotrophic lateral sclerosis: implications for clinical management

Ammar Al-Chalabi, Leonard H. van den Berg & Jan Veldink

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease predominantly affecting upper and lower motor neurons. Here, the authors outline previous and current efforts to characterize genes that are associated with ALS, and describe what is currently known about the genetic architecture of ALS.

CURRENT ISSUE

Research Highlights

Alzheimer disease Soluble TREM2 in CSF sheds light on microglial activation in AD

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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 10^th 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.

10^th 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.

Evidence-based guidelines: MAGNIMS consensus guidelines on the use of MRI in multiple sclerosis—establishing disease prognosis and monitoring patients

Mike P. Wattjes, Àlex Rovira, David Miller, Tarek A. Yousry, Maria P. Sormani, Nicola de Stefano, Mar Tintoré, Cristina Auger, Carmen Tur, Massimo Filippi, Maria A. Rocca, Franz Fazekas, Ludwig Kappos, Chris Polman, Frederik Barkhof & Xavier Montalban; on behalf of the MAGNIMS study group

The second part of the MAGNIMS network's evidence-based guidelines focuses on the use of MRI in prognostication and follow-up in patients with multiple sclerosis. The group recommends several techniques for monitoring disease activity and treatment efficacy.

Evidence-based guidelines: MAGNIMS consensus guidelines on the use of MRI in multiple sclerosis—clinical implementation in the diagnostic process

The use of MRI in patients with multiple sclerosis (MS) is commonplace in clinical settings. However, the precise implementation of MRI in the diagnosis of MS is highly variable, which is problematic in the context of the substantial technical advances of the past decade. In these Evidence-Based Guidelines, members of the MAGNIMS study group present a standardized approach to the use of MRI in the diagnosis of MS.

Expert Consensus Document: Mind the gaps—advancing research into short–term and long–term neuropsychological outcomes of youth sports–related concussions

Sports-related concussion is increasingly recognized as a potential danger to paediatric populations, but its short–term and long-term consequences remain poorly understood. This Expert Consensus Document is the result of a 1-day meeting convened by Safe Kids Worldwide, the Alzheimer's Drug Discovery Foundation, and the Andrews Institute for Orthopaedics and Sports Medicine, with the aim of highlighting knowledge gaps and areas of critically needed research in youth sports-related concussion.

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Focus: Epilepsy

Treatment-resistant epilepsy remains a major burden at both global and individual levels. In this special focus issue on epilepsy, cutting-edge investigators from around the world highlight the important challenges and progress in epilepsy research and clinical practice.
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

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:

Patient-led research in rare disease

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

LETTER TO THE EDITOR

"It's not all in my head!" - The complex relationship between rare diseases and mental health problems.

by Rebecca Nunn

Published on: 27 February 2017

Finalists Entries

Implementing the UK Strategy for Rare Diseases more effectively: A patient perspective - by Srinivasa Rambhatla
The rare disease revolution: how it will help shape the future of medicine - by Ferenc Gutai

Read some of the top Research & Review articles from OJRD

Review

Cystinosis: a review

Mohamed A. Elmonem, et al.

Published on: 22 April 2016

Vogt-Koyanagi-Harada disease: review of a rare autoimmune disease targeting antigens of melanocytes

Marcelo Mendes Lavezzo, et al.

Published on: 24 March 2016

IgG4- related disease: an orphan disease with many faces

Herwig Pieringer, Ilse Parzer, Adelheid Wöhrer, Petra Reis, Bastian Oppl and
Jochen Zwerina

Published on: 16 July 2014

Congenital neutropenia: diagnosis, molecular bases and patient management

Jean Donadieu, Odile Fenneteau, Blandine Beaupain, Nizar Mahlaoui and Christine Bellanné Chantelot

Published on: 19 May 2011

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.

EL BIRUNI: CIENCIAS MÉDICAS NEWS [https://elbiruniblogspotcom.blogspot.com.ar] ▲ DIRECTORIO DE DOCUMENTOS EDITADOS EN FEBRERO de 2017 [*] ► Contenidos Copyright by Cerasale Morteo, Víctor Norberto; 2008 a 2016. SALTA / ARGENTINA. 28 de FEBRERO de 2017 [12]

EL BIRUNI: CIENCIAS MÉDICAS NEWS [https://elbiruniblogspotcom.blogspot.com.ar] ▲ DIRECTORIO DE DOCUMENTOS EDITADOS EN FEBRERO de 2017 [*] ► Contenidos Copyright by Cerasale Morteo, Víctor Norberto; 2008 a 2016. SALTA / ARGENTINA. 28 de FEBRERO de 2017 [12]

https://elbiruniblogspotcom.blogspot.com.ar

Contenidos Copyright by Cerasale Morteo, Víctor Norberto. Salta, Argentina. 2008 a 2017.

MARTES 28 de FEBRERO de 2017

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

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[*]

OCTAVO AÑO

GRUPO DE BLOGS SALUD EQUITATIVA

► Iniciado en enero de 2009:

https://elbiruniblogspotcom.blogspot.com.ar/

▲ CIENCIAS MÉDICAS NEWS

► Iniciado en abril de 2008:

https://saludequitativa.blogspot.com.ar/

▲ GESTIÓN EN SALUD PÚBLICA

► Iniciado en enero de 2009:

https://herenciageneticayenfermedad.blogspot.com.ar/

▲ CIENCIAS DE LA HERENCIA

Páginas vistas por países

Gráfico de los países más populares entre los lectores del blog

Entrada	Páginas 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 fecha: 7.283.283+
DOCUMENTOS CONSULTADOS EN El grupo de blog´s de SALUD EQUITATIVA desde 2009 hasta hoy: 19.142.958
TOTAL de Páginas consultadas, copiadas, distribuidas, traducidas, comentadas, revisadas, etc. desde el inicio de los blogs (3): > 473,9 millones

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 2017: 1.161+

Documentos editados acumulados durante 2017: 2.301+

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

MUCHAS GRACIAS A TODO EL UNIVERSO DE SEGUIDORES Y LECTORES QUE NOS CONFÍAN SUS CONSULTAS... MUCHAS GRACIAS A LAS FUENTES POR APOYARNOS Y ALENTARNOS A SEGUIR DIFUNDIENDO CIENCIA GENUINA... MUCHAS GRACIAS POR ACOMPAÑAR ESTA INICIATIVA QUE PRETENDE DEMOSTRAR QUE LA "SALUD HUMANA" IMPORTA...