Glasgow Webinar Series in Rare Conditions: Hypophosphatasia – Diagnosis and Management

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.

Webinar summary

WebinarHypophosphatasia – Diagnosis and Management
DateDecember 8th, 2020
Time18:00 – 19:30 hr
SpeakersFaisal Ahmed
James Irvine
Agnès Linglart
Anya Rothenbuller
OrganisationOffice for Rare Conditions Glasgow
WebsiteVisit webinar website
RegistrationRegister for webinar
MTG

Endo-ERN CPMS webinar: How to enrol a patient, start a panel and upload files to a panel

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.

Webinar summary

WebinarHow to enrol a patient, start a panel and upload files to a panel
DateDecember 3rd, 2020
Time17:00 – 18:00 hr
SpeakersDanielle Steenvoorden
Isabel Moenig
RegistrationRegister for webinar

INTERNATIONAL CONGRESS ON RARE DISEASES & COVID 19

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.

Event summary

EventINTERNATIONAL CONGRESS ON RARE DISEASES & COVID 19
DateNovember 13th, 2020
Time14:00 hr
RegistrationRegistration is closed

17th International Pituitary Congress

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.

Event summary

Event17th International Pituitary Congress
DateFebruary 22nd - March 3rd, 2021
WebsiteVisit event website

Endo-ERN webinar: Diagnosis and management of Silver–Russell Syndrome, a multidisciplinary care is necessary

Irene Netchine

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.

Webinar summary

WebinarDiagnosis and management of Silver–Russell Syndrome, a multidisciplinary care is necessary
DateNovember 24th, 2020
Time17:00 – 18:00 hr
SpeakerIrene Netchine
RegistrationRegister for webinar
MTG

Endo-ERN webinar: Wolfram syndrome – Diagnostics, Biomarkers, and Therapeutic Options

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.

Webinar summary

WebinarWolfram syndrome – Diagnostics, Biomarkers, and Therapeutic Options
DateNovember 11th, 2020
Time15:00 – 16:00 hr
SpeakerFumihiko Urano
RegistrationRegistration is closed
View
MTG

The ERN animation clip for the patients and health professionals subtitled and dubbed in all EU languages is now available

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.

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