Mucopolysaccharidoses (MPS) comprise a group of lysosomal disorders that are characterized by progressive, systemic clinical manifestations and a coarse phenotype. The different types, having clinical, biochemical, and genetic heterogeneity, share key clinical features in varying combinations, including joint and skeletal dysplasia, coarse facial features, corneal clouding, inguinal or abdominal hernias, recurrent upper respiratory tract infections, heart valve disease, carpal tunnel syndrome, and variable neurological involvement. In the severe forms, these features usually appear in the first months of life, but a correct diagnosis is often reached later when suggestive signs are manifest. All MPS types may have severe or attenuated presentations depending on the residual enzymatic activity of the patient. Based on data from the literature and from personal experience, here we underline the very early signs of the severe forms which should alert the paediatrician on their first appearance. A few early signs are typical of MPS (i.e. gibbus) while many are unspecific (hernias, upper airway infections, organomegaly, etc.), and finding the association of many unspecific signs might prompt the paediatrician to search for a common cause and to carefully look for other more specific signs (gibbus and other skeletal deformities, heart murmur). We stress the need to increase awareness of MPS among paediatricians and other specialists to shorten the still existing diagnostic delay. A timely diagnosis is mandatory for the commencement of treatment as soon as possible, when available, to possibly obtain better results. The full article you can read here.
In Europe, approximately 30 million people live with a rare disease. Prompt diagnosis of rare diseases is crucial for reducing morbidity and mortality, to estimate the risk of recurrence, and to prevent further complications. Diagnostic delay or undiagnosed conditions, estimated to affect around 10%–30% of people with rare diseases, can have serious physical and psychological effects. People with rare diseases and their families often experience loneliness, tiredness, discouragement etc. Health professionals, for their part, can also experience frustration, delusion, distress.
The National Centre for Rare Diseases (NCRD), part of the Italian National Institute of Health (Rome, Italy), acts as the leading technical and scientific body of the Italian Ministry of Health and the National Health System. Since 2008, the NCRD organises a national artistic competition, The Flight of Pegasus, dedicated to rare diseases. The aim of the initiative is to raise public awareness about rare diseases and empower communities through dissemination of scientific knowledge. The competition offers a variety of expressive formats, including narrative stories, poetry, drawing, painting, sculpture, photography, digital art, music composition, and music interpretation. The deadline is until 6th of January, 2019. More information about the competition you can find here.
Rare diseases affect approximately 30 million people in the European Union and present a major health issue. Over 1000 rare skin diseases are known, many of which are of genetic origin and manifest in childhood. One of these diseases is epidermolysis bullosa (EB), a genodermatosis presenting with skin fragility and blistering. With an estimate of up to 2000 affected individuals in Germany, many of these children, but only two specialist centres, the question arose where and how health care for this rare disease is provided. This question was addressed by an online survey of all paediatric and dermatological departments in Germany. More information about the survey you can find here.
Klinefelter syndrome (KS) (47, XXY) is the most common sex chromosome disorder, with a prevalence of 1 in every 660 newborn males. Despite the profound adverse effects of anxiety and depression, and their greater prevalence in KS populations, no research has been conducted to date to identify the determinants of anxiety and depression among patients with KS. We examined the relationships between personality traits, social engagement, and anxiety and depression symptoms among KS patients (n = 69) and a group of male controls (n = 69) matched for age and years of education. KS patients experienced more anxiety and depression symptoms than control participants. Neuroticism was the strongest and most consistent mediator between KS and both anxiety and depression symptoms. This research suggests that neuroticism may play a central role in attention switching, anxiety and depression among patients with Klinefelter syndrome. The central role of neuroticism suggests that it may be used to help identify and treat KS patients at particularly high-risk for attention-switching deficits, anxiety and depression. The full article you can find here.
Gaucher disease (GD) presents with a range of signs and symptoms. Physicians can fail to recognize the early stages of GD owing to a lack of disease awareness, which can lead to significant diagnostic delays and sometimes irreversible but avoidable morbidities.
The Gaucher Earlier Diagnosis Consensus (GED-C) initiative aimed to identify signs and co-variables considered most indicative of early type 1 and type 3 GD, to help non-specialists identify ‘at-risk’ patients who may benefit from diagnostic testing.
The signs and co-variables identified in the GED-C initiative as potentially indicative of early GD will help to guide non-specialists and raise their index of suspicion in identifying patients potentially suitable for diagnostic testing for GD. The full article you can find here.
Activities and goals:
This is a group for parents of children and women with Turner Syndrome. The aim is to provide place where can be exchanged experience and ideas and everybody can help each other. Тhe objective is to have more useful information for patients and more public awareness of this rare disease.
This unique three-year programme has now concluded. It has been the most comprehensive clinical and policy autism research ever done in Europe.
The programme’s most important legacy will be its contribution to the development of future autism research, policy and practice. Through discussions with member states, we are using the ASDEU findings to work towards the inclusion of autism on the agenda of the Steering Group on Health Promotion, Disease Prevention and Management of Non-Communicable Diseases. As well as its legacy in terms of policy and practice frameworks, the programme’s website will remain online until the end of 2019 as a vital source of information for autistic individuals and their families, as well as for the groups and professionals who provide support. The website includes the executive summary and summaries of all the work programme findings.
Dr. Petia Stratieva
str. San Stefano 17, 6th floor
Dr. Petia Stratieva – president
Tsvetana Dvorskа – member
Maria Konstantinova – member
• organisation of patients and family members living with degenerative retinal diseases
• patients empowerement
• access to diagnosis
• treatment (including access to clinical researches)
• clinical researches
• new therapies
Pregnancy is usually contraindicated in patients with pulmonary hypertension (PH). Risk factors associated with the outcome of this rare disease have not been specifically explored before.Medical records were retrospectively reviewed to identify patients with coexisting PH and pregnancy or delivery at Peking Union Medical College Hospital between January 2009 and June 2018. Thirty-six pregnant women with PH were identified, including 30 cases in WHO group 1, 5 cases of group 2 and 1 case of group 4. Median pregnancy duration was 24 weeks. The overall maternal mortality rate was 8.3% (3/36), and the late fetal mortality was 31.6% (6/19). The full article you can find here.