Objective: To present an algorithm, including in-depth clinical, electrophysiological and genetic studies, thanks to which a correct diagnosis of patients with Stargardt disease and cone-rod dystrophy was established.Material and methods: We present two patients who underwent a full ophthalmological examination, optical coherence tomography, fundus autofluorescence and/or fluorescein angiography, visual field testing and fullfield and multifocal electroretinography and the clinical diagnosis was established, confirmed and genetically.Results: Some of the symptoms of the patient with cone-rod dystrophy, as well as some of the clinical studies could be misinterpreted as Stargardt disease, but after in-depth electrophysiological studies demonstrated reduced diffuse electrophysiological activity of cones and to a lesser extent of rods, a revision of the initial clinical diagnosis was required, confirmed later genetically.Conclusion: In-depth clinical, electrophysiological and genetic testing of patients with hereditary retinal dystrophies is essential for the correct diagnosis and choice of therapeutic approach. The presented algorithm is useful for differential diagnosis between the different types of hereditary retinal dystrophies, which is very difficult in some cases and requires a differentiated approach. Read the full article here.
Duchenne muscular dystrophy (DMD) is a genetic, progressive neuromuscular condition that is marked by long-term muscle deterioration with significant implications of pulmonary and cardiac dysfunction. As such, end-stage heart failure (HF) in DMD is increasingly becoming the main cause of death in this population. The early detection of cardiomyopathy is often challenging, due to a long subclinical phase of ventricular dysfunction and difficulties in assessment of cardiovascular symptomatology in these patients who usually lose ambulation during the early adolescence. However, an early diagnosis of cardiovascular disease in patients with DMD is decisive since it allows a timely initiation of cardioprotective therapies that can mitigate HF symptoms and delay detrimental heart muscle remodelling. Regular cardiac care is crucial in DMD care. Early recognition and prophylactic use of angiotensin converting enzyme inhibitors (ACEi) are the main stay therapeutic strategy to delay incidence of DMD – dilatated cardiomyopathy (DCM). Because of lack of DMD specific drugs, actual indications for established DCM include current treatment for heart failure (HF).
We present this rare and interesting case to highlight the existence of this entity since it carries a poor prognosis and requires a timely cardioprotective therapy. Read the full article here.
Takeda and Institure for Rade Diseases will conduct a specialised online webinar on “Gaucher disease”
Date: 9 Decembre 2021
Time: 18:00 EET
Venue: Virtual Congress Venue, Institute for Rare Diseases
For more information and free registration, go to vcv.raredis.org .
We present a rare case of severe mixed drug overdose as a suicide attempt in a polymorbid COVID-19 reconvalescent patient manifested with metformin-associated lactic acidosis (MALA), complicated with shock, acute kidney injury and episodes of hypoglycemia. We used a complex decontamination – detoxication approach with extracorporeal detoxication and ICU treatment with favorable outcome, complete resolution of the symptoms and full recovery within 36 hours. This case is unusual in the common clinical practice because of the association of two rare clinical syndromes – metformin-induced lactic acidosis (MILA) and MALA – and the criteria that have been applied for early aggressive invasive therapy in such patients. Read the full article here.
Exactly a year ago – on November 25, 2020 – the current Pharmaceutical Strategy for Europe was adopted. The main objective of this document is to create a reliable and sustainable regulatory framework that will meet the expectations and needs of European patients on the one hand, and will promote innovation and modernization in the pharmaceutical sector on the other. A number of weaknesses identified during the current COVID-19 pandemic were also taken into consideration while finalizing the strategy.
The Pharmaceutical Strategy for Europe is based on 4 main pillars, which provide for legislative measures as well as non-legislative actions:
– providing affordable medicines to patients and meeting unfulfilled medical needs;
– supporting the competitiveness, innovation and sustainability of the EU pharmaceutical industry and the development of high quality, safe and effective medicines;
– improving crisis preparedness and optimizing the mechanisms of response, ensuring diverse and secure supply chains and managing drug shortage;
– strengthening the EU’s role globally through encouragement of high quality, efficiency and safety standards.
What’s next?
Read the full article here.
Cystic Fibrosis is a rare genetic disease that causes persistent difficulty breathing, lung infections, and a buildup of mucus that may prevent organs from functioning properly (particularly in the digestive system).
Cystic fibrosis (CF) is the most common genetic disorder among Caucasians. In Europe, the prevalence at birth is estimated at 1/3,000 and currently there are approximately 70,000 people worldwide living with CF.
Мost people with CF take medicine prescribed by their health care provider and have treatments that help break up the thick mucus in their lungs. They must do these treatments several times every day to prevent long-term damage to their lungs.
Supporting a family member or a friend with CF can take many forms, such as going with them to appointments, spending time with them while they are having treatments, or simply giving them a safe place to talk about their feelings about CF or about anything else.
However, due to the different lung infections that they can get, there’s the “six foot rule”, a guideline from the Cystic Fibrosis Foundation which states that cystic fibrosis patients should be kept at least six feet (1.8 m) apart from each other, to lower the risk of cross-infection. This is because they may catch new bacteria from each other, which could lead to serious lung damage.
For further information on CF go here.
SYNONIMS: Sanfilippo disease
ICD10 code: E76.2
ORPHANET number: ORPHA581
For more information about this disease, please visit the Orphanet website.
Visitors from North America may also contact NIH Office of Rare Diseases Research website.
In the context of the widespread use of mRNA vaccines worldwide, the number of patients diagnosed with myocarditis is also increasing. Due to the pronounced heterogeneity in the clinical course of this disease, its diagnosis can easily be missed. The majority of reported cases are in young men between the ages of 15 and 29 after complete immunization cycle. The clinical case presented by us is of a 33-year-old man with a history of perimyocarditis 8 years ago and complaints after administration of the first dose of mRNA. Early diagnosis of myocarditis allows an early initiation of cardioprotective therapy, which reduces the risk of developing sudden cardiac death and improves the prognosis in these patients. Read the full article here.
On 1 October 2021 an international public-private consortium of 35 partners announced the launch of Screen4Care – a research project that aims to significantly shorten the time required for rare disease diagnosis and efficient intervention by utilising genetic newborn screening and advanced analysis methods such as machine learning. Read the full article here.