After running countless literature searches, sifting through huge piles of papers and encouraging our guideline development group members to complete literature reviews on tens of papers within very tight timeframes, and to join us in ‘exotic’ Manchester for consensus meetings, we are very pleased to announce that the DYSCERNE Clinical Management Guidelines for Angelman, Kabuki, Noonan and Williams syndromes are now available for download from the ‘Guidelines’ page of this website. In this manual, we have tried to include all the information about knee research, the stages of their implementation, problems that may arise in the process and during the organization, which would be interesting for both medical practitioners and students. However, due to the limitation of the permissible number of pages, we could not add some of the important examples, so look for nursing problem statement examples on https://bestwritingservice.com/essays/nursing/nursing-research-problem-statements.html, because such cases are quite frequent in any field of medicine.
This page also contains details on the methodology developed and used to produce these guidelines, as well as contacts for further information on this aspect of the DYSCERNE project.
We would like to thank all members of each of the guideline development groups for their support and hard work in developing the DYSCERNE guidelines.
Feedback so far has been very positive and we hope that the documents will be useful tools in planning the management of people with these rare conditions.
Published 14/05/10

DYSCERNE are pleased to announce the addition of a Swedish translation of the DDS Patient Information & Consent leaflet to the resources available on the DDS documents page We would like to thank Dr Britt-Marie Anderlid, our node in Stockholm, Sweden, for kindly providing this translation.

DYSCERNE are pleased to announce the addition of a Portuguese translation of the DDS Patient Information & Consent leaflet to the resources available on the DDS documents page We would like to thank Dr Ana Medeira, our node in Lisbon, Portugal, for kindly providing this translation.

DYSCERNE are pleased to announce that a comprehensive list of dysmorphology related features and definitions taken from the Winter-Baraitser Database (formerly the London Medical Database, www.lmdatabases.com) is now available from our website.  We would like to thank Michael Baraitser for kindly allowing DYSCERNE to add this to our Educational Resources page. The list of features and definitions can be accessed here
Published 15/02/10

Happy 1st Birthday to the DDS!

As DYSCERNE’s Dysmorphology Diagnostic System (DDS) has now been available and working for just over 1 year we thought it would be an ideal time to update you on the systems recent progress.

The DYSCERNE Network continues to expand and we now have 82 submitting nodes from 31 countries. Our DDS Expert Panel of reviewers has also increased to a total of 37 allowing for more reviews per case (current average is 6 per case).

Last month, December 2009, was our best month yet for case submissions to the system with 8 being accepted for expert review.

Evidence from our previous audits of the system show it to be a viable and effective service in terms of making diagnoses based on consensus clinical opinion. Recently there have been cases of Macrocephaly-Cutis Marmorata-Telangectasia Congenita and Mhyre syndrome clinically confirmed. There are also 2 pairs of siblings on the system who have what is thought to be a new recessively inherited multiple abnormalities mental retardation syndrome. Features include short stature, microcephaly and developmental delay, malocclusion with prominent upper incisors/maxilla, scoliosis and tapering fingers and Dandy Walker malformation. Overall a consensus diagnosis is reached in about 15% of cases.

We are pleased that so many colleagues are using the system. We would like to thank everyone who takes the time to give their expert opinions and encourage you all to continue submitting new cases.

The DDS is undoubtedly a success and a valuable tool for practicing dysmorphologists.
Published on 01/02/10
 
 

It’s an exciting time for DYSCERNE’s guideline development programme. The group that are responsible for developing guidelines for Angelman syndrome met on (26th January), in Manchester to present and discuss the findings and recommendations from the completed literature reviews, and to define the content and format of the guideline. Between them, the group have reviewed more than 200 papers selected from the 1500 identified in the initial PubMed searches. Following on from the meeting, a draft guideline will be prepared and circulated amongst the guideline development group for feedback and approval. The final guideline will be freely available as a download from the DYSCERNE website.
Published 01/02/10