New Endo-ERN publication: Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

The following Endo-ERN manuscript has been accepted for publication, entitled: Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study (Stefan Groeneweg et al., 2020) also written with collaboration of six members of the Endo-ERN Main Thematic Group Thyroid. The manuscript was published in the July issue of The Lancet Diabetes & Endocrinology.

To view the publication, click here.

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Vacancy: PhD Candidate Endocrinology

Looking for an interesting research opportunity? The Division of Endocrinology of the Department of Medicine at the Leiden University Medical Center (LUMC) has a PhD position available in a dynamic, multidisciplinary clinical research team, in which you will study rare endocrine conditions through real world data collected in registry based European projects, including EuRRECa and EuRR-Bone. Are you the candidate we are looking for?

For more information about this vacancy please click here

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ERN interactive map

The interactive map hosts a searchable interface with details about the ERNs, including multi-lingual factsheets about ERNs and locations of members and affiliated partners.

The data concerned includes ERN names and details, ERN clinical centers names and details (Members, Associated National Centers, Hubs). No personal data are included, functional mailboxes are indicated for the ERNs which provided one. You can look for the information from different points of views: by selecting one or more ERNs, one or more countries, one or more clinical unit. You can also select one or more ERNs, and then restrict to one or more countries, or one or more clinical unit(s). The information will be displayed as pins on the map and as a list of results at the bottom of the map: by clicking on each result, you will see the details.

To access the map please click here.

 

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Endo-ERN webinar: Understanding Lipodystrophy

On Wednesday July 8th 15:00 – 16:00 CET an Endo-ERN webinar about „Understanding Lipodystrophy“ is organised.

The webinar will be held by Prof Giovanni Ceccarini from Azienda Ospedaliera Universitaria Pisana in Italy and Dr. Rebecca Sanders, patient representative of Lipodystrophy UK & representative of European patients inside the Registry Board of ECLip.

Lipodystrophy syndromes are a group of rare (estimated prevalence of 3/1.000.000 if excluding HIV-related forms) and heterogeneous disorders characterized by the complete or partial loss of adipose tissue, in the absence of a nutritional deprivation or a catabolic state.

Lipodystrophy syndromes are usually associated with the development of metabolic syndrome, caused by the abnormal deposition of fat that cannot be stored in appropriate subcutaneous depots. In this event, surplus calories can only be stored as ectopic fat in liver, muscle tissue and other internal organs resulting in insulin resistance, diabetes mellitus, hypertriglyceridemia, and hepatic steatosis or steatohepatitis. Other features include, but are not restricted to, muscle pseudo-hypertrophy, polycystic ovary syndrome, cardiopathies, chronic pain and, overall, in many cases, a marked reduction of the quality of life.

Loss of adipose tissue also results in a decrease of serum leptin levels that interferes with hunger-satiety signals, leading to hyperphagia, aggravating the metabolic alterations ad thus sustaining a vicious cycle.

Recognition of lipodystrophy is based on clinical history, physical and instrumental examination. Because Lipodystrophies are rare and heterogeneous, frequently the disease is unrecognized or misdiagnosed. This is unfortunately a common experience for many patients who become frustrated by not being able to give a unifying explanation to their constellation of symptoms and disorders.

Резюме на Webinar

WebinarEndo-ERN webinar: Understanding Lipodystrophy
Дата8 юли 2020
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Endo-ERN webinar: Genetic Obesity Disorders caused by Leptin-melanocortin Pathway Defects

On Tuesday July 7th at 18:00 – 19:00 CET an Endo-ERN webinar about “Genetic Obesity Disorders caused by Leptin-melanocortin Pathway Defects” is organised.

The webinar will be held by Dr. Erica van den Akker from Erasmus MC: University Medical Center Rotterdam in the Netherlands.

Резюме на Webinar

WebinarEndo-ERN webinar: Genetic Obesity Disorders caused by Leptin-melanocortin Pathway Defects
Дата7 юли 2020
РегистрацияРегистрацията е затворена

Rare diseases: how the European Reference Networks support health professionals

The video from the EU Commission’s DG Health & Food Safety (SANTE) with Endo-ERN Coordinator prof. Alberto Pereira, prof. Franz Schaefer (ERKNET), prof. Marta Mosca (ReCONNECT) & prof. Jean-Yves Blay (EURACAN) is illustrating what the activities and the added value of the European Reference Networks are, particularly from the health professionals’ point of view.

The video is available HERE

 

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Endo-ERN webinar: Update on the consensus on congenital hypothyroidism: a patient centered approach

On Wednesday July 1st at 17:00 – 18:00 CET an Endo-ERN webinar about “Update on the consensus on congenital hypothyroidism: a patient centered approach” is organised.

The webinar will be held by Prof. Dr. Michel Polak, Paediatric Chair of the MTG ‘Thyroid’ from Hôpital Universitaire Necker – Enfants malades.

Резюме на Webinar

WebinarEndo-ERN webinar: Update on the consensus on congenital hypothyroidism: a patient centered approach
Дата1 юли 2020
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Webinar series: COVID-19 and Intensive Care Medicine, 2 June 2020 at 17:00 CET

In the context of COVID-19 pandemic and launching of the ‘COVID-19 Clinical Management Support System’, DG SANTE is organising a series of webinars to support clinicians and other healthcare professionals at the frontline who treat patients with COVID-19.

The next webinar will be held by Prof. Maurizio Cecconi, President Elect of the European Society of Intensive Care Medicine and Head of Department Anaesthesia and Intensive Care Units, Humanitas Research Hospital, Lombardy in Italy, and by Prof. Jozef Kesecioglu, President of the European Society of Intensive Care Medicine, expert on ethics and intensive care, Head of Intensive Care Centre of the University Medical Centre of Utrecht in The Netherlands. Attendees will then be able to ask questions to the speakers. The webinar will be recorded and available for off line vision afterwards.

To join the webinar, click here

Programme:

Agenda:
17.00 – 17.05 

 

17.05 – 17.25

 

 

 

 

17.25 – 17.45

 

 

 

 

17.45 – 18.00

  • Welcome DG SANTE, European Commission

 

 

  • Surge ICU response and clinical aspects and management Prof. Maurizio Cecconi – President Elect of the European Society of Intensive Care Medicine and Head of Department Anaesthesia and Intensive Care Units, Humanitas Research Hospital, Lombardy, Italy

 

  • Ethics and family involvement during a pandemic.

Prof. Jozef Kesecioglu – President of the European Society of Intensive Care Medicine; Expert on ethics and intensive care, Head of Intensive Care Centre of the University Medical Centre of Utrecht, Netherlands

 

  • Q&A

 

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