Glasgow Webinar Series in Rare Conditions: Hypophosphatasia – Diagnosis and Management
Tuesday 8th December 17.00 -18.30 (GMT) 18.00-19.30 (CET)
17:00 Introduction – S. Faisal Ahmed, Glasgow
17:05 A case of infantile HPP – James Irvine, Glasgow
17:15 The aetiology and clinical presentation of HPP – Agnès Linglart, Paris
17:40 The management of HPP across the life span – Anya Rothenbuller, Paris
18:15 Q&A
18.30 Close
The Glasgow Webinar Series is supported by the Glasgow Children’s Hospital Charity and An unrestricted education grant from Alexion.
On Thursday December 3rd at 17:00 – 18:00 CET an Endo-ERN CMPS webinar about “How to enrol a patient, start a panel and upload files to a panel is organised”
During this webinar you will learn how to create a CPMS panel. We will show you how to enrol a patient, how to start a patient panel and how to upload files to your panel.
After the presentation our operational helpdesk members (Isabel Moenig and Danielle Steenvoorden) will be available to answer your questions during the live Q&A.
The coordinators of the EU funded S4R project are organising an International Conference on Rare Diseases and COVID-19 where we have been invited to provide a speech on the ERNs and the COVID-19 pandemic on 13th of November at 14:00.
The conference will include virtual meetings with patients and professionals from around the world to know how COVID19 has impacted the community of people affected by rare diseases.
The conference is of free access but you would need to register.
The Endo-ERN newsletter of October 2020 is out now!
Read more about the ERN Animation clip for patients and health professionals,Endo-ERN webinars, H2020 proposal, e-REC drop-in session and Publications.
The 17th International Pituitary Congress 2021 will now be a virtual, 4 meeting Congress.
There will be four separate two-hour sessions on February 22 & 24 and March 1 & 3.
Starting Times: 11:00 a.m. EST | 1:00 p.m. BRT | 4:00 p.m. GMT | 5:00 p.m. CET|6:00 p.m. IST & EET | 1:00 a.m. JST | 3:00 a.m. AEDT
Topics will include:
• Surgery vs. Medical Therapy for Prolactinomas
• COVID-19 and Pituitary Disease
• Adult Growth Hormone Deficiency
• Oncology and Pituitary Intersections
• Novel Imaging Techniques
• Acromegaly
• Genetics of Pituitary Tumors
• Cushing’s Disease
• Diabetes Insipidus and Hyponatremia
Please stay tuned for more logistic details.
On Tuesday November 24th at 17:00 – 18:00 CET an Endo-ERN webinar entitled “Diagnosis and management of Silver–Russell Syndrome, a multidisciplinary care is necessary” will be held by Prof. dr. Irène Netchine (MTG5 co-chair) from Hôpital Trousseau, Sorbonne université, Paris, France
Silver–Russell Syndrome (SRS) is a rare condition associated with prenatal and postnatal growth retardation. Children with SRS can be distinguished from those with « idiopathic » intrauterine growth retardation or born small for gestational age (SGA) and postnatal growth failure by the presence of other characteristic features, including relative macrocephaly at birth, prominent forehead, body asymmetry and feeding difficulties in early life. Considerable overlap exists between the care of individuals born SGA and those with SRS. However, many specific management issues exist. SRS is primarily a clinical diagnosis but molecular testing enables confirmation of the clinical diagnosis and defines the subtype.The management of children with SRS requires an experienced, multidisciplinary approach. Specific issues include growth failure, severe feeding difficulties, gastrointestinal problems, hypoglycaemia, body asymmetry, scoliosis, motor and speech delay and psychosocial challenges. An early emphasis on adequate nutritional status is important, with awareness that rapid postnatal weight gain might lead to subsequent increased risk of metabolic disorders. The benefits of treating patients with SRS with growth hormone include improved body composition, motor development and appetite, reduced risk of hypoglycaemia and increased height. Awareness of possible premature adrenarche, fairly early and rapid central puberty and insulin resistance is important. Long-term follow up is essential to determine the natural history and optimal management in adulthood and transition care needs to be developed.(https://www.nature.com/articles/nrendo.2016.138)
This webinar presents the challenges of diagnosis and clinical guidelines for Silver Russell Syndrome recently established and discussed in the first international consensus.
The 8th International Symposium on DSD will take place from 8 – 10 July 2021 at the University Hospital Bern.
The registration and abstract site will open on 21st January 2021.
We are proud to announce that the manuscript entitled
ENDOCRINOLOGY IN THE TIME OF COVID-19: Clinical management of neuroendocrine neoplasms (NENs), which involves various Endo-ERN members, has been accepted for publication in the European Journal of Endocrinology.
To view the publication, click here
On Wednesday November 11th at 15:00 – 16:00 CET an Endo-ERN webinar about “Wolfram syndrome: Diagnostics, Biomarkers, and Therapeutic Options” is organised. The Endo-ERN webinar will be held by Prof Fumihiko Urano from the Washington University, United States.
The video explains to patients affected by rare, low prevalence and complex diseases what the European Reference Networks (ERN) are and how they might support them to identify diagnosis or treatment, in the case their health professional considers the support of the ERNs is necessary.
Click here to view the video with subtitles in all EU languages and Norwegian.
