Primary hyperammonaemia is a term to describe an elevation of ammonia in blood or plasma due to a defect within the urea cycle, which is the pathway responsible for ammonia detoxification and arginine biosynthesis. Urea cycle disorders (UCDs) are rare diseases caused by genetic defects affecting any of the six enzymes or two transporters that are directly involved in the urea cycle function.The clinical situation is variable and largely depends on the time of onset. Newborns who are often affected by hyper-ammonaemic encephalopathy carry a potential risk of severe brain damage, which may lead to death. Outside the neonatal period, symptoms are very unspecific but most often neurological (with wide variability), psychiatric and/or gastrointestinal. Early identification of patients is extremely important to start effective treatment modalities immediately. The acute management includes detoxification of ammonia, which often requires extracorporeal means such as haemodialysis, and the use of intravenous drugs that work as nitrogen scavengers. Long-term management of patients with UCDs consists of a low-protein diet, which needs to be balanced and supplemented to avoid deficiencies of essential amino acids, trace elements or vitamins and the use of nitrogen scavengers.The reader will find here a brief overview describing the most relevant aspects of the clinical management of UCDs in an attempt to raise awareness for this important group of rare diseases. Read the whole article here.
(Български) Доц. Александър Оскар – лектор на XII Национална конференция за редки болести и лекарства сираци
(Български) Доц. Анна Попова – лектор на XII Национална конференция за редки болести и лекарства сираци
(Български) Проф. Силвия Чернинкова – лектор на XII Национална конференция за редки болести и лекарства сираци
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!
Good practices for rehabilitation and physiotherapy in outpatient settings after COVID-19 viral pneumonia
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.