a project of the German Society of Anesthesiology and Intensive Care Medicine

News

Delay in response time - Thank you for your understanding!

We would like to inform you that there might be a little delay in the response time by our OrphanAnesthesia team at the moment due to a staff turnover. We will do out utmost to reply to your inquiry in any case as soon as possible.

Thank you very much for your understanding and your kind support.

Your OrphanAnesthesia Team

New recommendation: Jarcho-Levin syndrome

We are very happy to offer a new recommendation, on Jarcho-Levin syndrome.

Van der Woude syndrome - new recommendation online

Please find here a new recommendation, on van der Woude syndrome.

Anti-NMDA-receptor encephalitis - new recommendation online

We are very happy to offer now a recommendation on Anti-NMDA-recpetor encephalitis. We say thank you to the dedicated authors!

New recommendation: Birt-Hogg-Dubé syndrome

We are happy to present here a recommendation on Birt-Hogg-Dubé syndrome.

New recommendation: Metachromatic leukodystrophy

We are happy to present a new recommendation, on Metachromatic leukodystrophy. Thanks to the authors and reviewers who made this possible!

Hermansky-Pudlak syndrome - a new recommendation online

Please find here a new recommendation: Hermansky-Pudlak syndrome.

New recommendation: tuberous sclerosis complex

We are happy to present a new recommendation: tuberous sclerosis complex. Thanks to the dedicated authors!

Today is Rare Disease Day

Today, poeple all over the world mark rare disease day - to draw attention to these "orphans" of medical care. OrphanAnesthesia is one of the efforts to enhance patients' safety, compiling information on peri-operative care with a rare disease.There are many more efforts already to make people more aware of rare diseases and the problems they present. Join in! Find more information on https://www.rarediseaseday.org/.

New recommendation: Von Hippel-Lindau disease

We are happy to present a new recommendation on our website: Von Hippel-Lindau disease. Thanks to the authors and reviewers who made this possible!

Glanzmann's Thrombasthenia - new recommendation online

Plese find here a new recommendation, on Glanzmann's Thrombasthenia. Thanks to the author and the reviewers for their support of the project!

Nemaline myopathy - new recommendation

We start the New Year with a new recommendation - please find here the recommendation on Nemaline myopathy.

Happy New Year!

This year, again, was a big challenge for all of us. In spite of these really difficult times, many physicians all over the world supported this project and did their very best to create the recommendations on our website. We now offer 208 recommendations in up to 5 languages, and more are on their way. We want to thank all of you who contributed!

The project team of OrphanAnesthesia wishes a happy and healthy New Year to everybody!

Noncompaction cardiomyopathy - new recommendation online

We are happy to present another new recommendation at the end of this year, on Noncompaction cardiomyopathy. With this, we now have 208 recommendations online to enhance safer and better treatment for patients with a rare disease.

Sotos syndrome - a new recommendation online!

Please find here a new recommendation, on Sotos syndrome.

New recommendation: Vein of Galen malformation

We are happy to present you a new recommendation, on Vein of Galen malformation. Thanks to author and reviewers!

Spanish translations for TAR syndrome and Goldenhar syndrome online!

Thanks to our Spanish colleagues, we are able to present 2 new Spanish translations, for Goldenhar syndrome and for TAR syndrome.

Recommendation on Amyotrophic lateral sclerosis online

We are happy to offer now a recommendatino on Amyotrophic lateral sclerosis on our website. Thanks to the dedicated contributors!

New recommendation on transverse myelitis

Please find here the recommendation on transverse myelitis. Thanks to the authors and reviewers!

Spanish translation of Pompe disease online

Thanks to our Spanish colleagues, we now can offer a Spanish version of the recommendation on Pompe disease.

New: recommendation on Neuromyotonia

Please find here the recommendation on Neuromyotonia. Thanks to the authors and reviewers who add to more than 200 recommendations on rare diseases!

Spanish translations of Williams syndrome and Rett syndrome online

Please find here the Spanish translation of Williams syndrome and here of Rett syndrome, thanks to the support of members of the Working Group "Enfermedades Raras y Anestesia", Sección Pediátrica de la Sociedad Espagñola de Anestesiología, Reanimación y Terapéutica del Dolor (SEDAR).

New: recommendation on Bland-White-Garland syndrome

Please find here the recommendation on Bland-White-Garland syndrome.

We now offer recommendations on 202 rare diseases, and are very happy about the ongoing commitment of so many people all over the world. Thank you!

New: recommendation on Goodpasture syndrome

Here you find a recommendation on Goodpasture syndrome.

Recommendation on Gerstmann-Sträussler-Scheinker syndrome

We are happy to present a new recommendation, on Gerstmann-Sträussler-Scheinker syndrome.

With this new one, we now offer 200 recommendations. To the many contributors from all over the world who have achieved this - thank you!!

This project lives by the dedication and effort from all of you who spend your time and energy to make available all information there is on a rare disease, and so contribute hugely to patient safety.

Best regards - your OrphanAnesthesia Team

Update on Macrophage activation syndrome online

We are happy to offer now an update on the recommendation for Macrophage activation syndrome on our website.

Translation into Spanish: Trastornos del ciclo de la urea - urea cycle disorders

We are happy to present you the Spanish translation of the recommendation on urea cycle disorders: Trastornos del ciclo de la urea

Thanks to our dedicated Spanish colleagues!

New recommendation on Dyke-Davidoff-Masson syndrome online

Please find here a new recommendation, on Dyke-Davidoff-Masson syndrome.

Donohue syndrome - new recommendation online

We are happy to present a new recommendation on Donohue syndrome.

Rare Disease Day on Sunday

Next Sunday is Rare Disease Day - the last day of February. This day is meant to focus attention on  the so called "orphan" diseases which are treated all too often as a negligible quantity. They are not. Join in to the efforts to make people aware of them, and to make treatment safer!

 

Klippel-Feil syndrome - Spanish translation online

We are happy to present you a further Spanish translation, for Klippel-Feil syndrome.

Now 176 recommendations in Czech online!

Thanks to the Czech Society of Anaesthesiology and Intensive Care Medicine, we now can offer 176 of our recommendations in Czech on our website.

End of the year - and a new recommendation online: Systemic mastocytosis

We are very happy to end the year with a new recommendation, on Systemic mastocytosis, and with our best wishes for you: have a peaceful time in these last days of the year, and a good start into the New Year!

We also want to thank all contributors for their ongoing efforts - with their help, the project did go on in spite of all difficulties in this very special year. The project is going on, slowly, but: going on!

your Project Team OrphanAnesthesia

New translations into Portuguese: Biliary atresia, Bullous pemphigoid, CADASIL

WE are happy to present more translations into Portuguese. Please find here

Atresia Biliar

CADASIL

Update on Alkaptonuria

The recommendation on Alkaptonuria has now been updated - we say thank you to the dedicated authors!

Please note that the Spanish and the Czech version have not yet been updated, too. We are working on this.

Portuguese translation of Behçet's disease

Please find here a Portuguese translation for Behçet's disease, thanks to a Brasilian colleague.

New recommendation: Madelung's disease

We are happy to present here a new recommendation, on Madelung's disease. Our thanks to the authors and reviewers who have made it possible.

20 more Czech translations

We are very happy to inform you that we can offer now 20 more Czech translations of the recommendations here online. Our thanks to the Czech colleagues who made this possible.

Urea cycle disorders - new recommendation

We are happy to present this comprehensive recommendation on urea cycle disorders, including recommendations on N-acetylglutamate synthase deficiency
Carbamylphosphate synthetase deficiency
Ornithine Transcarbamylase Deficiency
Ornithine Transcarbamylase Deficiency
Argininosuccinate lyase deficiency
Argininaemia


 

 

New recommendation: Aromatic L-amino acid decarboxylase deficiency

Please find here a new recommendation, on Aromatic L-amino acid decarboxylase deficiency.

Thanks to the dedicated authors and reviewers who made this possible! 

20 new translations in Czech

Thanks to our dedicated Czech colleagues, you find 20 more translations into Czech on our website!

60 recommendations in Czech online!

The joint efforts of Czech anaesthesiologists have made it possible that we now can offer 60 of our recommendations in Czech. Thanks to the dedicated translators!

Portuguese translation: Tetralogia de Fallot

We are happy to offer another Portuguese translation: Tetralogia de Fallot.

New translations into German: Brugada-Syndrom + Osteogenesis imperfecta

We are happy to offer here new translations into German of the recommendations on Brugada-Syndrom and Osteogenesis Imperfecta

New recommendation: Dubowitz syndrome

We are happy to offer now a recommendation on Dubowitz syndrome to you.

Czech translations online!

Due to the joint efforts of several Czech colleagues, we are able to offer now 20 recommendations in Czech. We are very happy with this and say thank you very much for this valuable contribution!

Kennedy disease - new recommendation, also in French

Please find here a new recommendation, on Kennedy disease. Thanks to the dedicated French patient organisation, we can offer this also in French.

New recommendation on Insulinoma

Find here the recommendation on Insulinoma. Many thanks to the author, and the reviewers!

New translations into Italian: Moyamoya, Sindrome di Kabuki, Sindrome di Wolf-Hirschhorn

Please find here new translations into Italian, thanks to the Italian colleagues:

Kabuki syndrome - Sindrome di Kabuki

Wolf-Hirschhorn syndrome - Sindrome di Wolf-Hirschhorn

Moyamoya disease - Moyamoya

2 new translations into German: Ehlers-Danlos syndrome, Fabry disease

Please find here German translations of Ehlers-Danlos syndrome and of Fabry disease. Thanks to the dedicated translators!

Rare Disease Day on 29. February

The coming saturday is Rare Disease Day. Since 2009, the last day of February is celebrated as Rare Disease Day. Find more information on www.rarediseaseday.org. We invite you to spread information on this, and make people more aware.

And we thank you that you make it possible for us to present more and more recommendations on rare diseases.

Novedades - News: Spanish website online!

We have succeded in creating a Spanish version of OrphanAnesthesia - you find the button with the German and the English one up on the left side. We are very happy that this was made possible by the German Society of Anaesthesiology and Intensive Care Medicine and by our Spanish contributors, and we hope that this makes the recommendations still more accessible all over the world.

Have a peaceful Christmas time, and a happy New Year!

Thanks to all the supporters of the project OrphanAnesthesia in the last years, we are now offering anaesthesiolgical recommendations on more than 180 rare diseases, and in up to 4 languages. And the project grows, making patients with rare diseases all over the world a little bit safer. We are proud of this achievement that so many people in so many countries have been accomplishing.

We wish all of you a peaceful Christmas time, and a happy New Year!

The OrphanAnesthesia team

 

 

New recommendation: Dyskeratosis congenita

We are happy to offer here a new recommendation: Dyskeratosis congenita.

New recommendation: Sjögren-Larsson syndrome

Wer are happy to offer a recommendation on Sjögren-Larsson syndrome now.

New translation into Spanish: Trombocitopenia Immune

Please find here a new translation intos Spanish of Immune thrombocytopenia: Trombocitopenia Immune.

New recommendation: Hamamy syndrome

We are happy to offer a new recommendation to you on Hamamy syndrome. Thank you to authors and reviewers!

New recommendation: Fabry disease

Please find here the recommendation on Fabry disease.

New: recommendation on Multiple myeloma

Please find here a new recommendation on: Multiple myeloma.

New German translations of CADASIL and on Mucolipidosis type 2 and 3

We are happy to present here a German translation of CADASIL and a German translation of Mucolipidosis type 2 and 3.

New recommendation: PURA syndrome

Please find here a new recommendation on PURA syndrome. We say thank you to the authors and reviewers!

New recommendation on Giant axonal neuropathy

We are happy to present a new recommendation on Giant axonal neuropathy. Thanks to the author and the reviewers!

French translation online!

Find here the first French translation on the OrphanAnesthesia website: Paralysie Spastique Familiale - Hereditary spastic paraplegia.

Our thanks to the dedicated translator.

And welcome to all who are ready to translate more - just contact us.

New: recommendation on Pierre Robin sequence

We are happy to present a new recommendation on Pierre Robin sequence.

New translations on Apert syndrome & on MYH9 related disease

Please find here the translation of Apert syndrome into Portuguese: Sindrome de Apert,

and here the translation of MYH9 related disease into Italian: Malattia correlata MYH9.

Thanks to the dedicated translators!

Update on Joubert syndrome

Please find here the updated recommendation on Joubert syndrome, both in English and German.

Translations into German: Liddle's disease - Glycogen storage disease type I

Find here the new translations of Liddle's disease (Liddle-Syndrom) and Glycogen storage disease type I (Glykogenspeicherkrankheit Typ I) into German.

New translations into Italian and into German

Please find the new translations on Alport syndrome - Sindrome di Alport - into Italian, and on Angelmann syndrome - Angelmann-Syndrom - into German.

New recommendation: Lujan-Fryns syndrome

Please find the new recommendation on Lujan-Fryns syndrome on our website.

New recommendation: Nager's syndrome

Please find the new recommendation on Nager's syndrome online.

Update on Mucolipidosis type 2 and type 3

Please find the update of the recommendation on Mucolipidosis type2 and type 3 online. Thanks to the author and the reviewer!

Portuguese Translation of Rubinstein-Taybi syndrome

Please find the new Portuguese translation of Rubinstein-Taybi syndrome.

Recommendation on Preeclampsia

Please find the new recommendation on Preeclampsia on our website.

Recommendation on Leprosy online

Please find a new recommendation online on Leprosy.

Updates: Myasthenia gravis and Welander distal myopathy

Please find here the updated recommendations on Myasthenia gravis and on Welander distal myopathy. We would like to thank the authors for their ongoing support.

New recommendation online: Hereditary spastic paraplegia

Please find the recommendation on Hereditary spastic paraplegia (Strumpell-Lorrain syndrome) online on this website.

New: recommendation on Xeroderma pigmentosum

Please find a new recommendation on Xeroderma pigmentosum on our website.

New recommendation online: MYH9-related disease

Please find the new recommendation on MYH9-related disease online, as well as the update on CADASIL.Many thanks to the dedicated authors and reviewers!

New recommendation online: Andersen disease

Please find a new recommendation on Andersen disease on our website.

New recommendation on 3MC syndrome - Michels syndrome

Please find the new recommendation online on 3MC syndrome - Michels syndrome.

Update on Angelman syndrome - Italian version

Thanks to the Gruppo di Studio Anestesia e Malattie Rare, SARNePI, Italia, we now have not only the English update, but also the Italian update of Angelman syndrome: Sindrome di Angelman.

Update on Multiminicore disease online

We are happy to present the updated version of the recommendation on Multiminicore disease. Many thanks to the author!

Please note that the Spanish translation is not yet updated, as indicated by the date; we are working on it.

German translation of Mitochondrial disorders

Please find here the German version of Mitochondrial disorders: Mitochondriopathien.

Update on Angelman syndrome online

The recommendation on Angelman syndrome has been updated now.

Please note that the Italian translation is not yet updated. If you know someone who would be ready to do this, please contact us: This email address is being protected from spambots. You need JavaScript enabled to view it.. Thank you!

Update on Alpha-mannosidosis

We now have received an update on the recommendation for Alpha-mannosidosis.

Update on Kasabach-Merritt syndrome

Please find the update on the recommendation for Kasabach-Merritt syndrome.

New recommendation: Kleefstra syndrome

Please find a new recommendation online: Kleefstra syndrome.

2 Translations into German - March 2019

We now can offer translations into German for:

  • Beals syndrome
  • Fucosidosis

And there are more translations to come!

New recommendation on Schwartz-Jampel syndrome

We are happy to publish a new recommendation on:

Schwartz-Jampel syndrome

New recommendations on Sheldon-Hall syndrome and on Distal arthrogryposis type 3

We are happy to present you 2 new recommendations:

Sheldon-Hall syndrome
Distal arthrogryposis type 3

Biliary atresia - Spanish translation online

We are happy to present you now the Spanish Translation of Biliary atresia:
Atresia Biliar

Many thanks to the dedicated translators.

2 recommendations now also in Spanish

Find 2 more recommendations in Spanish:

Cerebrotendinous xanthomatosis - Xantomatosis cerebrotendinosa
Beals syndrome - Sindrome de Beals

New recommendation on Beals syndrom

Please find our new recommendation on anaesthesia with Beals syndrome.

New recommendation online: Fucosidosis

Find our latest recommendation on Fucosidosis online

2 recommendations now also in Spanish, and 2 in German

We now can offer 2 recommendations also in Spanish:

- Tachicardia ventricular (Catecholaminergic polymorphic ventricular tachycardia)
- Penfigoide bulloso (Bullous penfigoide)


And we can offer 2 recommendations now also in German:

- Allgrove Syndrom (Allgrove syndrome)
- Joubert Syndrom (Joubert syndrome)

Thanks to all supporters!

Merry Christmas and a happy New Year!

We wish you all a peaceful Christmas and a happy New Year!
Special thanks to all the contributors who made and make this project grow!

4 New Spanish Translations

Thanks to our Spanish colleagues, we are able to present now 4 new translations:
  • Síndrome de bridas amnióticas (Amniotic band syndrome)
  • Enfermedad de Behcet (Behcet's disease)
  • Dermatomiositis (Dermatomyositis)
  • Síndrome de Kartagener (Kartagener syndrome)

A new recommendation online

We now have a new recommendation online on Scimitar syndrome.

New Spanish Translations

We are happy to present 3 recommendations in Spanish now:
  • Autism
  • Walker-Warburg syndrome
  • Becker's disease - Myotonia congenity recesiva

Another 3 recommendations in Spanish - November 2018

Thanks to Dr. Margarita Bilbao Liseca, Juan C. Catalá-Bauset, and Dr. Carlos Errando, we now have another 3 recommendations in Spanish on our website:

  • Argininosuccinate lyase deficiency -  deficiencia de Argininosuccinatoliasa
  • Arthrogryposis multiplex congenita - Artrogriposis múltiple congénita
  • De Barsy syndrome - sindrome de De Barsy

3 recommendations now also in Spanish - October 2018

We are happy to present 3 recommendations in Spanish translation now:

Apert syndrome - sindrome de Apert
Arrhythmogenic right ventricular dysplasia - Displasia arritmogenica
Allgrove syndrome - sindrome de Allgrove

Spanish recommendation online - Alport syndrome

Thanks to our Spanish colleagues, we can offer you now the recommendation on Alport syndrome in Spanish

New recommendations online - September 2018

We are glad to present you 3 new recommendations for the following diseases:
  • Freeman-Burian syndrome
  • Rubinstein-Taybi syndrome
  • Walker-Warburg syndrome

New anaesthesia recommendations online - August 2018

New anaesthesia guidelines are available now online for the following diseases:

Allgrove syndrome
Shwachman-Diamond syndrome

New guidelines December 2017 and Happy Holidays!

There are some new anaesthesia guidelines available for the following rare diseases: 

  • de Barsy syndrome
  • Niemann Pick type C
  • Behcet’s disease
  • Congenital diaphragmatic hernia
  • Kartagener syndrome
  • Gaucher syndrome
  • Systemic onset juvenile idiopathic arthritis
  • McArdle disease
The OrphanAnesthesia team would like to wish everyone Happy Holidays and a successful new year. Moreover, we want to thank everyone involved in the project OrphanAnesthesia for their kind support. 

New anaesthesia guidelines available online - August 2017

 New anaesthesia guidelines have been published online for the following rare diseases:

  • McCune Albright syndrome
  • Klippel-Trénaunay syndrome
  • Cerebrotendinous xanthomatosis
  • Erdheim-Chester disease
  • campomelic dysplasia
  • Larsen syndrome
  • Huntingtons' disease
  • trisomy 18
  • biliary artresia

Patientenbefragung Patientensicherheitskarte

Und wie geht es Ihnen?

Die bisherigen Schwerpunkte von OrphanAnesthesia liegen in der Erstellung von Handlungsempfehlungen „durch Ärzte für Ärzte“. Aber wie ergeht es Patienten und deren Angehörigen bei Narkosen? Wir glauben, dass wir die Versorgung bei seltenen Erkrankungen nochmals wesentlich verbessern können, wenn wir mehr über Ihre persönlichen Erfahrungen lernen.
 
Wir haben unter der Adresse:  https://www.soscisurvey.de/patientsafetycard-dgai eine Befragung von ca. 5-10 Minuten Dauer vorbereitet, die hierzu Klarheit schaffen wird. Dabei richtet sich der Fragebogen auch an Betroffene, die bislang keine Narkose erhalten mussten.
 
Wir danken bereits jetzt für Ihre Teilnahme an unserer Befragung und freuen uns über Ihre Kritik und Anregungen. Bitte kontaktieren Sie uns unter: This email address is being protected from spambots. You need JavaScript enabled to view it..

Weitere Informationen unter: Patienteninfoschreiben

New: Patient Safety Card for rare diseases

Starting from April 2016, we offer a new "patient safety card" for all hospitals, patients and support groups dealing with rare diseases. 
Patients or doctors can fill-in the specific name of the rare disease. 

The card is made to alert the anesthesiologist to problems that might occured during anesthesia of a patient with a rare disease. The card should be given to the anesthesiologist before anesthesia. It should be carried by the holder in case of emergency surgery. 

The anesthesiologist will be able to get informed of our OrphanAnesthesia recommendations before anesthesia. 

The patient safety card is editable and ready-to print. It can be downloaded at: 

icon Patient Safety Card


 

 

 

 


 

 

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