Sorry, this entry is only available in Bulgarian.
Sorry, this entry is only available in Bulgarian.
Juvenile systemic sclerosis (JSSc) is a rare disease of childhood and currently no international consensus exists with regard to its assessment and treatment. This SHARE (Single Hub and Access point for paediatric Rheumatology in Europe) initiative, based on expert opinion informed by the best available evidence, provides recommendations for the assessment and treatment of patients with JSSc with a view to improving their outcome. Experts focused attention not only on the skin assessment but also on the early signs of internal organ involvement whose proper treatment can significantly affect the long-term outcome. A score for disease severity is proposed in order to perform a structured assessment of outcome over time but a validation in a wider patient population is recommended. Finally, a stepwise treatment approach is proposed in order to unify the standard of care throughout Europe with the aim to reduce morbidity and mortality in this disease. Read the whole article here.
XII National Conference for Rare Diseases and Orphan Drugs, organized by the Institute for Rare Diseases, will be held online on 10-11 September, 2021 at the Virtual Congress Venue.
The conference is the most important annual forum for rare diseases and brings together all stakeholders – health care professionals, patients, medical students, industry and health authorities. The scientific program includes interesting topics in the field of innovations in the diagnosis, treatment and follow-up of rare diseases, the development of European reference networks and access to innovation.
There is no registration fee until 15 August, 2021, for health care professionals, students, patients and representatives of patient organizations.
For more information and registration: https://vcv.raredis.org/event/10-11-09-2021/
We are expecting you!
This article is a review of the current scientific medical literature on the topic of physiotherapy and rehabilitation of COVID-19 pneumonia in outpatient settings. The aim is to present the clinical tools of physical and rehabilitation medicine for the prevention and management of complications of pneumonia due to the new strain of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Included studies cover the entire activity of physical and rehabilitation medicine – physical exercises, application of low-intensity magnetic field (LIMP), high-intensity magnetic field (HIMP), as well as laser therapy in the overall rehabilitation complex of patients after COVID-19 pneumonia. Findings confirm the hypothesis of the important role of specialists in physical and rehabilitation medicine that they could have in the recovery of patients after COVID-19 pneumonia, as well as the statistically significant benefit from the application of the above-described means of physical medicine. Read the whole article here.
Eosinophilic granulomatosis with polyangiitis (EGPA), until recently called Churg-Strauss syndrome is a systemic necrotizing vasculitis with multiple organ involvement, most commonly manifested by asthma, eosinophilia and necrotizing extravasal granulomas. Anti-neutrophil cytoplasmic autoantibodies (ANCA) are found in some of the patients. EGPA is one of the rarest forms of primary systemic vasculitis.Since the first description of the disease in 1951, its classification has undergone many changes aimed at refining the diagnostic process and timely treatment. In order to be diagnosed precisely, patients must meet certain criteria. The lack of a unified approach in the application of these criteria, as well as the overlap of clinical symptoms with other primary systemic vasculitides, make it difficult to study EGPA epidemiology.This publication aims to analyze epidemiological data on EGPA and to provide an assessment of the incidence and prevalence of this disease in Bulgaria. Read the whole article here.
The aim of this study is to systematize and analyze the available evidence on the financial burden of comorbidities in patients with acromegaly. A literature search was conducted in the scientific databases PubMed, Google Scholar, Bioseek using predefined keywords. Studies have been selected on the basis of their primary goal. 16 studies were included in the qualitative synthesis based on screening of 176 identified studies in the databases. Most of the selected studies were conducted in the USA (n = 6), Canada (n = 2), Sweden (n = 2), China (n = 1), Spain (n = 1), Italy (n = 1), Poland (n = 1). Studies confirmed the financial burden of comorbidities, which is most significant in patients with poor control of acromegaly/or of the main diesease – almost 2 times higher than in patients with good control. The costs of concomitant diseases vary in different countries and depend on the type of disease, as their share is lower than pharmacotherapy cost for acromegaly – 25% compared to 75%. The use of appropriate pharmacotherapy (octreotide, pasireotide) for acromegaly leads to reduction in the incidence and severity of comorbidities and to cost savings. Effective and timely control of comorbidities in acromegaly could lead to achievement of the desired long-term therapeutic results, reduction of overall mortality, improvement of quality of life, as well as reduction in total treatment costs from the point of view of the society and health care system. Read the whole article here.
Central hypoventilation syndrome (or Ondine–Hirschprung disease) is a rare autosomal dominant disease caused by heterozygous mutation in the PHOX2B gene on chromosome 4p13. It is characterized by a deficiency in autonomic control of respiration, which results in inadequate or ventilatory responses to hypercapnia and hypoxemia.Authors present a 4 years and 3 months boy monitored from birth. In the early neonatal period the neurological symptoms were respiratory pauses and apnea, muscle hypotonia, neonatal seizures. Magnetic resonance imaging of head showed periventricular and intraventricular hemorragies, periventricular leukomalacia. Complementary were found respiratory distress syndrome, bilateral nephrocalcinosis, secondary defect type foramen ovale with left-right shunt, sinus arythmia with often sinus pauses, isolated auricular extrasystoles, gastroesophageal reflux, facial dysmorphysm. DNA analysis of the PHOХ2B gene showed heterozygous frameshift mutation of exon 3, duplication18p6, which leads to expansion of 6 alanin residues (26 alanins) in the terminal С-terminal end of the PHOX2B gene.A complex lifesaving therapy was proceeded in the neonatal period. To the age of 3 years the patient was left at home on spontaneous breathing with tracheostoma and ventilation at night. After the removal of the tracheostoma the patient continues noninvasive ventilation at night. Read the whole article here.
The new issue of our scientific journal Rare Diseases and Orphan Drugs is now online. The issue contains 5 publications on various topics. The editorial is “Economic modeling in health technology assessment – what is acceptable and what makes sense?”.
The assessment of health technologies and the subsequent decision to pay with public funds focus on the concept of value and more precisely on the added clinical and economic value compared to the existing and available alternatives for comparison. The greater the added value of a new health technology, the more likely is the acceptance of a positive reimbursement recommendation. Measuring added value is not a problem because there is a wide range of research tools to accomplish this task. However, the evaluation of added value is problematic. Very often there are no clear criteria of what minimum result is needed for a positive recommendation to pay for new health technology with public funds. Moreover, assessment is a highly subjective process and the various stakeholders in it – doctors, patients, payers and industry – often have divergent positions on the same issue. This fundamental problem illustrates the need to use economic modeling in health technologies assessment and deciding to pay with public funds. Read the whole article here.
Osteogenesis imperfecta (OI), also known as “brittle bone disease”, is a rare genetic disorder of the skeleton, whose most benign form I corresponds to autosomal dominant mutations in the genes encoding type I collagen (COLA1, COLA2). Several associated skeletal manifestations are often observed but, surprisingly, while dentin defects often reflect genetic bone disorders, about half of OI patients have no obvious oral manifestations. Here, we investigated the collagen, mineral and mechanical properties of dentin from deciduous teeth collected from patients with mild form of OI and displaying no obvious clinical signs of dentinogenesis imperfecta. For the first time, an increase in the hardness of OI dentin associated with an increase in mineral content compared to healthy patients was reported. In addition, OI altered the tissue characteristics of the dentin-enamel junction but the interfacial gradient was preserved. The impact of changes in molecular structure due to mutations in OI was assessed by Raman microspectroscopy. Our results highlighted a change in the hydroxyproline-proline ratio in direct association with collagen mineralization. Our findings suggest that the evaluation of teeth could be an important aid for mild types of OI that are often difficult to diagnose clinically and provide experimental evidence that hydroxyproline content should be considered in future studies on collagen-based biomaterials. Read the whole article here.