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”
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 
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.
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).
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 
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 
The technological revolution and the understanding of the molecular genetics, together with the pharmacological industry led to an improvement in the management of many diseases in medicine. In the recent decades, many fatal in the past cancers were cured or turned into chronic diseases. However, this is not always the case in rare oncological diseases. Despite the discrepancy in the different definitions of rare oncological diseases, epidemiological data show that, taken together, the estimated annual incidence of all rare cancers is more than 20% of all cancer diagnoses.The analysis of rare cancer burden is a key to their better diagnosis, treatment. It is also known that their registration is suboptimal, particularly in the countries of Eastern Europe. The leading problems in oncology are related to the diagnosis and detection of tumors, unlike other rare non-oncological diseases, and this worsens many clinical parameters. It is already known that survival and many clinical outcomes in treatment and follow-up are improved in specialized centers, which is expert management of these patients in specialized centers is highly recommended. A conceptual model for a functioning specialised center has already been elaborated. Read the full article 
Acanthosis nigricans (AN) is a rare congenital or acquired secondary skin disease characterized by darkening (hyperpigmentation) and thickening (hyperkeratosis) of the skin. The folds are symmetrically involved: plaques with the morphological characteristics of AN are found in the armpit (axilla), groin and back of the neck. It is subdivided into benign (“pseudoacanthosis nigricans”) and malignant AN.We present a case of a 43-year-old woman with AN with localized symmetrically pigmented plaques with a papillomatous surface in the axils, nape, back of the feet. The patient has clinical manifestations of grade III obesity (BMI > 40 kg/m2) and insulin-resistant diabetes with a duration of more than 10 years. Hypothyroidism, acromegaly, polycystic ovary and Cushing’s disease are excluded. Screening for visceral neoplasia was performed. The family survey did not reveal any manifestation of AN among the relatives.AN is most likely caused by factors that stimulate the proliferation of keratinocytes in the epidermis and fibroblasts in the dermis. In the benign form of AN, such a factor is probably insulin or insulin-like growth factor (IGF), which stimulates the growth of epidermal cells. Tyrosine kinase receptors (epidermal growth factor receptor or fibroblast growth factor receptor) also play a role. At high concentrations, insulin exerts a potent proliferative effect by binding with high affinity to IGF-1 receptors. In addition, free IGF-1 levels may be elevated in obese patients with hyperinsulinemia, leading to accelerated cell growth and differentiation. The case presented is illustrative of a rare dermatosis, which may be congenital or a paraneoplastic dermadrome. Read the full article