Pills of knowledge Videos

 

Pills of Knowledge (PoK) videos are the deliverable for VASCERN Work Package 4 on Pills of Knowledge, defined as short single video lessons (of approximately 3-5 minutes long) in which an expert talks about a specific topic that has been selected and validated by the Rare Disease Working Groups (RDWGs).

We currently have 6 PoK available and should have another 13 (from all of the RDWGs) completed by the end of 2018.

You can select a PoK by RDWG by clicking on the headings below. All VASCERN PoK can equally be found on our YouTube channel.

HHT-WG Pills of Knowledge videos playlist

All Pills of Knowledge by the Hereditary Haemorrhagic Telangiectasia Working Group (HHT-WG) can be found on their Playlist here

An Overview of Hereditary Haemorrhagic Telangiectasia features an informative presentation by Prof Claire Shovlin (Chair of the HHT WG from Hammersmith Hospital – Imperial College Healthcare NHS Trust, UK). This PoK is accessible to everyone and gives viewers an introduction to HHT by explaining its main clinical features (and their frequency) in addition to the genetics and aetiology of this rare disease. Video in English. Subtitles available in 7 European languages.

Hereditary Haemorrhagic Telangiectasia (HHT) is more than a bleeding Nose. What an ENT doctor needs to know about HHT and why, is made by Prof Anette Kjeldsen (HHT-WG Member, from the HHT Centre at Odense University Hospital, Denmark) and is intended for Ear, Nose & Throat (ENT) Doctors in order to help them properly recognize the signs and symptoms of HHT. As ENT doctors are often the first healthcare professionals that HHT patients consult, it is essential for them to be able to identify a potential HHT patient and refer these patients to an HHT expert Centre for screening and treatment in order to decrease patient morbidity. Video in English

Hereditary Haemorrhagic Telangiectasia (HHT) from VASCERN HHT

An Introduction to Hereditary Haemorrhagic Telangiectasia (HHT) by the VASCERN HHT-WG is a video that introduces the HHT-WG and their expertise in this rare vascular disease. Common problems of HHT are equally presented and several experts talk about their recent research that indicates that life expectancy in patients with HHT is good, provided that they are properly screened and receive the benefits of modern medicine. This video is mainly directed at HHT patients but is also of interest to the medical community and the general public wishing to learn more about HHT and the HHT-WG in VASCERN. Video in English. Subtitles available in 4 European languages.

HTAD-WG Pills of Knowledge videos playlist

The Pills of Knowledge (PoK) by the Heritable Thoracic Aortic Diseases (HTAD) Working Group (WG) are available on our YouTube Channel!

Link to the playlist for the HTAD-WG on our YouTube Channel is here

VIDEOS:

Marfan Syndrome -Diagnosis by HTAD-WG Chair Prof Julie De Backer (Cardiologist, Ghent University Hospital, Ghent, Belgium).

This PoK gives an overview of the diagnosis of Marfan syndrome with its main clinical manifestations and diagnostic criteria described. The genetics of this rare disease are also briefly outlined in a clear and comprehensible manner. This video is a great introduction to Marfan syndrome that is suitable for both the general public and the medical community.

Video in English. Subtitles available in 7 European languages.

See the video here

3 a week – the importance of exercise in Marfan and related Heritable Thoracic Aortic Diseases (HTAD)

Created by Prof. Guillaume Jondeau (Cardiologist, Assistance Publique-Hôpitaux de Paris, Hôpital Bichat-Claude Bernard, Paris, France) and Lise Murphy (European Patient Advocacy Group (ePAG) Patient Advocate Co-Chair for HTAD, Svenska Marfanföreningen, Sweden).

This Pill of Knowledge (PoK) features a conversation between a patient and doctor about the importance of physical activity and what exercise is suitable for patients with Marfan syndrome. It aims to encourage Marfan syndrome patients to participate in a suitable form of exercise 3 times a week. This message will be further shared via the 3 a week campaign. Video in English subtitles available in 7 European languages.

See the video here

Le Sport et le Syndrome de Marfan (Sport and Marfan syndrome)

Created by Prof. Guillaume Jondeau (Cardiologue, Assistance Publique-Hôpitaux de Paris, Hôpital Bichat-Claude Bernard, Paris, France).

This Pill of knowledge talks about how physical activity is beneficial for Marfan syndrome patients and the types of sports that are adapted for these patients and which to avoid. It is meant for patients and gives clear and simple explanations for why certain sports are well tolerated in Marfan patients and others are not. Video in French. Subtitles available in 7 European languages.

See the video here

What is Heritable Thoracic Aortic Disease (HTAD)?

Created by Prof. Julie De Backer (Cardiologist, Ghent University Hospital, Ghent, Belgium).

This Pill of knowledge (PoK) talks about the group of vascular diseases known as Heritable Thoracic Aortic Diseases. Both syndromic and non-syndromic forms are described and the genetics of HTAD are also explored. It is suitable for healthcare professionals and anyone wishing to learn more about HTAD. Video in English. Subtitles in 5 European languages

See the video here

Role of patient advocates in a European Reference Network

This video, made by European Patient Advocacy Group (ePAG) members of VASCERN’s Heritable Thoracic Aortic Diseases Working Group, explains the role of patient advocates in the European Reference Networks. Video in English. Subtitles available in 2 European languages.

See the video here

MSA-WG Pills of Knowledge Video Playlist

All Pills of Knowledge by the Medium-Sized Arteries Working Group (MSA-WG) can be found at the MSA-WG Playlist here

Unmet medical needs in vascular Ehlers-Danlos Syndrome (vEDS) – patients perspective

Created by Juergen Grunert (President Deutsche Ehlers-Danlos Initiative e.V., ePAG co-chair for the Medium Sized Arteries Working Group (MSA-WG)) and Charissa Frank (President bindweefsel.be, ePAG deputy co-chair for the Medium Sized Arteries Working Group (MSA-WG)).

In this Pill of Knowledge (PoK), our ePAG Co-Chair and Deputy Co-Chair for the Medium-Sized working group (MSA-WG) talk about vascular Ehlers-Danlos syndrome (vEDS) from a patient’s perspective. Their conversation covers both the unmet needs of vEDS patients and how the VASCERN MSA-WG is working to fulfill these needs (e.g. via educational materials, patient pathways and Do’s and Don’ts factsheets). It is directed towards patients, healthcare professionals and the general public in order to raise awareness for this rare vascular disease. Video in English. Subtitles available in 4 European languages.

Arterial Complications of Vascular Ehlers-Danlos Syndrome (vEDS)

Created by Dr. Michael Frank (Cardiologist, Rare Vascular Disease Reference Centre, Assistance Publique-Hôpitaux de Paris, Hôpital Européen – Georges Pompidou (HEGP), Paris, France).

In this Pill of knowledge (PoK), Dr. Michael Frank gives a complete overview of the arterial complications associated with Vascular Ehlers-Danlos Syndrome (vEDS) and the most common treatment for each type of complication. This PoK is meant educate healthcare professionals who are not yet familiar with vEDS in order for them to be aware of the complications that occur in these patients. Video in English. Subtitles available in 3 European languages.

Gastrointestinal Complications in vascular Ehlers-Danlos Syndrome (vEDS)

Created by Dr. Salma Adham (Vascular Physician, Rare Vascular Disease Reference Centre, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou (HEGP), Paris, France).

This Pill of knowledge (PoK) gives a thorough overview of the gastrointestinal complications associated with vascular Ehlers-Danlos Syndrome (vEDS).  It details the first digestive complications most frequently encountered in vEDS patients and is directed towards healthcare professionals and the scientific community. Scientific data on this subject is equally presented. Video in English. Subtitles available in 4 European languages.

PoKs from the Vascular Ehlers-Danlos syndrome (vEDS) study day in London (01/07/2019)

Please note that these videos are mainly intended for medical students/trainees or other healthcare professionals

Structure of the Medium-Sized Arteries Working Group (MSA WG) in VASCERN by Dr. Leema Robertconsultant clinical geneticist, Guys and St. Thomas Hospital , London, UK.

Dr. Leema Robert, MSA WG Chair, presents the goals, actions and structure of VASCERN as well as the accomplished and ongoing work of the MSA WG, that currently covers vascular Ehlers-Danlos syndrome.

 Vascular Ehlers-Danlos syndrome: Introduction and new criteria by Dr. Fransiska Malfait, clinical geneticist, Center of Medical Genetics, Ghent University Hospital, Ghent, Belgium.

This video gives an introduction to vascular Ehlers-Danlos syndrome (vEDS) and presents the major and minor clinical criteria for vEDS from the 2017 International Classification for all types of Ehlers-Danlos syndromes published in the American Journal of Human Genetics. The Villefranche Nosology is also mentioned.

Genetics of vascular Ehlers-Danlos syndrome (vEDS): Part 1 – Pathogenic variants in COL3A1 by Dr. Ingrid van de Laar, Clinical geneticist, Erasmus Medical Center, Rotterdam, The Netherlands.

The Genetics of vascular Ehlers-Danlos syndrome (vEDS) are explored in three videos. In this video, part 1 of 3 – Pathogenic variants in COL3A1 – The gene COL3A1, which is found to be mutated in most patients with vEDS, is presented and explanations are given on how it encodes an important component of the collagen fibers. The types of molecular genetic testing for variants in the COL3A1 gene are also briefly covered.

Genetics of vascular Ehlers-Danlos syndrome (vEDS): Part 2 – Pathogenic variants in COL3A1: dominant negative effect by Dr. Ingrid van de Laar, Clinical geneticist, Erasmus Medical Center, Rotterdam, The Netherlands.

The Genetics of vascular Ehlers-Danlos syndrome (vEDS) are explored in three videos. In this video, part 2 of 3 – Pathogenic variants in COL3A1: dominant negative effect, the pathogenic variants in the COL3A1 gene that lead to a “dominant negative effect” (i.e. which results in an altered gene product affecting the function of the normal protein) are discussed (i.e. glycine substitutions within the triple helix and splice-site variants, in-frame insertions/deletions/duplications). The genotype/phenotype correlation associated with each type of variant is also introduced.

Genetics of vascular Ehlers-Danlos syndrome (vEDS): Part 3 – Pathogenic variants in COL3A1 : haplo-insufficiency by Dr. Ingrid van de Laar, Clinical geneticist, Erasmus Medical Center, Rotterdam, The Netherlands.

The Genetics of vascular Ehlers-Danlos syndrome (vEDS) are explored in three videos. In this video, part 3 of 3 – Pathogenic variants in COL3A1: haplo-insufficiency, the pathogenic variants in the COL3A1 gene that lead to haplo-insufficiency (i.e. only half of the protein being formed) are discussed. The genotype/phenotype correlation associated with this type of variants is presented.

 Clinical Features and Diagnostic criteria of vascular Ehlers-Danlos syndrome (vEDS)  – Part 1 by Dr. Michael Frank, Cardiologist, Rare Vascular Disease Reference Centre, Assistance Publique-Hôpitaux de Paris, Hôpital Européen, Georges Pompidou (HEGP), Paris, France.

This video (part 1 of 3) discusses the clinical characteristic features and the diagnostic criteria of vascular Ehlers-Danlos syndrome (vEDS).

 Natural history and complications of vascular EDS – Part 2 by Dr. Michael Frank, Cardiologist, Rare Vascular Disease Reference Centre, Assistance Publique-Hôpitaux de Paris, Hôpital Européen, Georges Pompidou (HEGP), Paris, France.

This video (part 2 of 3) discusses natural history of vEDS from early childhood until adulthood. The most common complications seen in vEDS patients (e.g. arterial, digestive, obstetric), their frequency and their average age of onset are presented. Prognostic factors are also briefly explored.

 Monitoring and Management of vascular Ehlers-Danlos syndrome (vEDS) by Dr. Michael Frank, Cardiologist, Rare Vascular Disease Reference Centre, Assistance Publique-Hôpitaux de Paris, Hôpital Européen, Georges Pompidou (HEGP), Paris, France.

This video (part 3 of 3) discussed the primary objectives of vEDS patient management and monitoring as well as the need for a dedicated multidisciplinary care team that has experience in vEDS. Current medical treatments for vEDS are also presented.

Pregnancy in vascular Ehlers-Danlos syndrome (vEDS) – Part 1 by Dr. Leema Robert, consultant clinical geneticist, Guys and St. Thomas Hospital , London, UK.

Dr. Leema Robert, MSA-WG Chair, explores several cases of women with vascular EDS and three population studies in order to make conclusions and recommendations regarding pregnancy in vascular EDS patients. The recent European Society of Cardiology (ESC) guidelines are also briefly mentioned.

Pregnancy in vascular Ehlers-Danlos syndrome (vEDS) – Part 2 –  Is In Vitro Fertilisation (IVF) safe in vEDS patients? by Dr. Leema Robert, consultant clinical geneticist, Guys and St. Thomas Hospital , London, UK.

Following the video “pregnancy in vascular EDS (vEDS) syndrome”, this video looks at the current literature regarding the question of whether in vitro fertilization is safe in vEDS patients. The possible risks involved with ovarian stimulation as well as the topics of in vitro maturation (IVM) and pre-implantation genetic diagnosis are explored. Recommendations from the VASCERN MSA-WG are given.

 Arterial fragility in other types of Ehlers Danlos Syndrome:  Part 1 – Introduction, Classical Ehlers-Danlos Syndrome (EDS) by Dr. Neeti Ghali (consultant clinical geneticist and cooperating guest from the EDS National Diagnostic Services in London, UK).

Arterial fragility seen in other types of EDS is discussed in three videos. This is part 1 of 3, which examines the clinical and genetic features of classical EDS, including its association with arterial complications in some cases.

Arterial fragility in other types of Ehlers Danlos Syndrome:  Part 2 – Kyphoscoliotic Ehlers-Danlos Syndrome (EDS) by Dr. Neeti Ghali (consultant clinical geneticist and cooperating guest from the EDS National Diagnostic Services in London, UK).

Arterial fragility seen in other types of EDS is discussed in three videos. This is part 2 of 3, which examines the clinical and genetic features of kyphoscoliotic EDS, which shows phenotypic overlap with both classical and vascular EDS.

 Arterial fragility in other types of Ehlers Danlos Syndrome: Part 3 – Other rarer types of Ehler-Danlos Syndrome (EDS) by Dr. Neeti Ghali (consultant clinical geneticist and cooperating guest from the EDS National Diagnostic Services in London, UK).

Arterial fragility seen in other types of EDS is discussed in three videos. This is part 3 of 3, which examines periodontal EDS as well as the need for constant revision of gene variant calling in order to reclassify patients’ previous variants of uncertain significance (VUS) to likely pathogenic or pathogenic variants as more cases are discovered and fulfill the criteria for classical EDS.

Medium sized artery disease in TGF-beta vasculopathies or syndromic aortopathies by Prof Bart LoeysClinical Geneticist, Center for Medical Genetics, Antwerp University Hospital, Antwerp, Belgium.

In this video, the various types of TGF-beta vasculopathies or syndromic aortopathies causing medium-sized artery disease are discussed including, among others, Loeys-Dietz syndrome (LDS), Shprintzen-Goldberg syndrome, and arterial tortuosity syndrome. The genes of LDS and the genes of other syndromic aortopathies are examined in regards to their association with arterial involvement.

 Organisations of services in UK  by Dr. Leema Robert, consultant clinical geneticist, Guys and St. Thomas Hospital, London, UK.

Dr. Leema Robert, Chair of the MSA-WG, gives an overview of the vEDS services in the UK and how they are organized. The two genetic services providing pediatric and adult expertise in vEDS in London are presented.

 Overview of animal studies in vEDS by Fransiska Malfait, clinical geneticist, Center of Medical Genetics, Ghent University Hospital, Ghent, Belgium.

This video gives an overview of the animal (mouse) models and pre-clinical studies that have been published for vascular Ehlers-Danlos syndrome and their findings.

PPL-WG Pills of Knowledge videos playlist

All Pills of Knowledge by the Pediatric and Primary Lymphedema Working Group (PPL-WG) can be found in the PPL-WG Playlist here

An Overview of Pediatric and Primary Lymphedema

The video introduces the lymphatic system and gives a brief summary on what exactly is lymphedema. Diagnosis, treatment, and complications are all explained in a clear and understandeable manner, making this video accessible to patients and the general public.

View this video here

Compression in Pediatric and Primary Lymphedema

Created by Dr. Kirsten F. van Duinen (Dermatologist, Nij Smellinghe Hospital Drachten, Netherlands)

This Pill of Knowledge (PoK) introduces the therapeutic process involved in the treatment of Pediatric and Primary Lymphedema (PPL) and how compression therapy is the cornerstone of management and treatment in PPL. It is intended for healthcare professionals and patients who would like to know more about the different types of compression therapy used to manage PPL. Video in English.

Cellulitis / Erysipelas in Pediatric and Primary Lymphedema

Created by Dr. Vaughan Keeley (Lymphedema Consultant, Derby Teaching Hospitals NHSF Trust, Derby, UK)

In this Pill of Knowledge (PoK), Dr. Vaughan Keeley gives an overview of cellulitis/erysipelas, which is a bacterial infection and a common complication in patients with Pediatric and Primary Lymphedema (PPL). He reviews the clinical presentation, diagnosis and treatment for cellulitis. This PoK is suitable for both patients and healthcare professionals. Video in English.

Lymphedema from a child’s perspective

Created by andLINFA (The National Association of Sufferers of Lymphatic Disorders – Portugal) and validated by members of the Pediatric and Primary Lymphedema Working Group (PPL WG)

In this Pill of Knowledge (PoK), Leonor, a Portuguese girl with lymphedema gives her testimonial of what it is like to live with this rare disease. It is suitable for both children and adults and a great resource for raising awareness of PPL. Video is in Portuguese but subtitles are available in English, Danish, Swedish, Dutch, Italian, Spanish, German and French.

VASCA-WG Pills of Knowledge videos playlist

Link to the playlist for the VASCA-WG on our YouTube Channel is here

Classification of Vascular Anomalies

Created by Prof. Laurence Boon (Plastic Surgeon, Coordinator of the Center for Vascular Anomalies, Cliniques Universitaires St Luc, Brussels, Belgium).

This Pill of Knowledge (PoK) gives a brief overview of the classification of vascular anomalies. It is intended for the medical community who is not familiar with these anomalies as it introduces the main types of vascular anomalies and their characteristics. Video in English. Subtitles available in 4 European languages.

Diagnostic Approaches for Vascular Anomalies

Created by Dr. Friedrich Kapp (Physician Scientist, University Medical Center, Freiburg, Germany).

This Pill of Knowledge (PoK) talks about the diagnostic approaches for vascular anomalies. The various types of examination and tests involved in reaching an appropriate diagnosis are described. This PoK is a valuable tool for healthcare professionals and patients wanting to learn more about how vascular anomalies are diagnosed. Video in English. Subtitles available in 4 European languages.

Multi-disciplinary Expertise Teams for Vascular Anomalies

Created by Prof. Leo Schultze Kool (Interventional Radiologist, Radboud University Medical Center, Nijmegen, Netherlands).

This Pill of knowledge (PoK) gives a brief summary of why multi-disciplinary expert teams are so necessary for the management and treatment of vascular anomalies. It is intended for the general public. Video in English. Subtitles available in 5 European languages.

Management of Vascular Anomalies

Created by Dr. Kristiina Kyrklund (Pediatric Surgeon, Helsinki University Hospital, Helsinki, Finland)

In this Pill of Knowledge (PoK) Dr. Kristiina Kyrklund gives an introduction on the individualized management of vascular anomalies and how the chosen treatment is based on the characteristic symptoms and location of the anomaly. Suitable for both healthcare professsionals and patients. Video in English. Subtitles available in 4 European languages.

The lymphatic system & lymphatic malformations (Lymfestelsel en lymfatische malformaties) – video in Dutch

This video, produced by the patient organisation HEVAS and validated by the VASCA-WG, talks about the lymphatic system and lymphatic malformations. This video has been made for patients and introduces the patient organisation HEVAS and their work.

View this video here

This video is currently being revised by the VASCA-WG so that an updated English version can be created. Stay tuned for its publication.

Treatments for lymphatic malformations (Behandelingen voor lymfatische malformaties) – video in Dutch

This video, produced by the patient organisation HEVAS and validated by the VASCA-WG, describes the treatments currently available for lymphatic malformations in a clear and understandable manner suited for patients.

View this video here

This video is currently being revised by the VASCA-WG so that an updated English version can be created. Stay tuned for its publication.

Link to the playlist for General Videos on VASCERN and the European Reference Networks for Rare Diseases on our YouTube Channel is here

 

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