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Summary Background Mucopolysaccharidoses (MPSs) are rare genetic diseases caused by a deficient activity of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. These metabolic blocks lead to the accumulation of GAGs in various organs and tissues, resulting in a multisystemic clinical picture. The pathological GAG accumulation begins a cascade of interrelated responses: metabolic, inflammatory and immunological with systemic effects. Metabolic inflammation, secondary to GAG storage, is a significant cause of osteoarticular symptoms in MPS disorders. Objective and method The aim of this review is to present recent progress in the understanding of the role of inflammatory and immune processes in the pathophysiology of osteoarticular symptoms in MPS disorders and potential therapeutic interventions based on published reports in MPS patients and studies in animal models. Results and conclusions The immune and skeletal systems have a number of shared regulatory molecules and many relationships between bone disorders and aberrant immune responses in MPS can be explained by osteoimmunology. The treatment options currently available are not sufficiently effective in the prevention, inhibition and treatment of osteoarticular symptoms in MPS disease. A lot can be learnt from interactions between skeletal and immune systems in autoimmune diseases such as rheumatoid arthritis (RA) and similarities between RA and MPS point to the possibility of using the experience with RA in the treatment of MPS in the future. The use of different anti-inflammatory drugs requires further study, but it seems to be an important direction for new therapeutic options for MPS patients.

Background Short acting beta-2 agonists (SABA) inhalation is commonly used in bronchodilatatory test, which is still an important research tool in the diagnosis of respiratory diseases with bronchial obstruction. Bronchodilatatory effect of SABA depends primarily on the degree of patency of the airway, the type and dose of SABA, as well as the type of inhaler and inhalation technique. The aim of the study was to evaluate the spirometric effectiveness of 2 different methods of salbutamol nebulization in asthmatic children. Methods The study group included 132 children aged 6 to 18 years (mean: 11.7), 91 (69%) boys and 41 (31%) girls with partly controlled asthma treated in the Allergy or Pulmonology Outpatient Clinics in Children's University Hospital in Lublin. The study was randomized and single blind design. Patients were randomly assigned to one of 2 groups. The first group used 2.2 mg of salbutamol (mean calculated dose) in the breath-actuated nebulizer (BAN) (Marine, Medbryt, Poland), while the second one–5 mg salbutamol (constans dose) in the constant-output nebulizer (CON) (Porta-Neb, MEDIC-AID, UK). Flow-volume curve (dynamic spirometry) was measured before and 20 minuts. after drug nebulization (bronchodilatatory test). FEV1 (expiratory volume in first second) and FEF25-75 (forced expiratory flow at 25 to 75% of forced vital capacity) values were analyzed. The change in FEV1 and FEF25-75 after treatment with respect to baseline was calculated. Results The mean baseline value of FEV1 was 67.4% in BAN and 70.5% in CON group and there was no statistical difference between these groups. The significant improvement of measured ventilatory parameters was observed. There was the significant difference in the bronchodilator response to salbutamol between 2 methods of nebulization. The value of FEV1 increased at 16.2% in BAN group and at 12.6% in CON group (P = 0,026). The value of FEF25-75 increased in both groups at 37.7% and 32.7% respectively and there was no statistical difference between these groups. Conclusions We observed greater bronchodilatatory effect of salbutamol inhaled via breath-actuated nebulizer while delivering a double lower dose. 2. Bronchodilatatory test using nebulized salbutamol in breath-actuated nebulizer should be recommended for children.

Rationale Allergen sensitization is an important risk factor for allergic disease, including allergic rhinitis. This study reports the sensitization status, and efficacy of fexofenadine (FEX), in a subset of children (aged 6–11 yrs) from Europe with seasonal allergic rhinitis (SAR) enrolled into a placebo-controlled, randomized, parallel-group study. Methods For randomization, children required a positive skin prick test to at least one pollen allergen for the current season and condordance to that specific allergen in in vitro IgE testing. Specific IgEs were determined by the Fluoro Enzyme Immuno Assay; positive IgE was defined as IgE class ≥2 (>0.7 kUA/L). Analysis was performed on the modified intention-to-treat (mITT) population, treated with either FEX HCl 30 mg BID or placebo. Efficacy was evaluated as the overall mean change from baseline in 12-hour reflective total symptom score (TSS). Results A subset of 375 subjects (FEX, n=187; placebo, n=188), from 42 centers in Finland, France, Germany, Italy, Poland and Spain, was analyzed from a total of 148 centers in 15 countries. Sensitization to pollen allergens assessed by plant category showed that grasses were the most common group of allergens (74.9% FEX; 79.8% placebo); sensitization to trees and weeds were evenly distributed (trees: 23.5% FEX, 23.9% placebo; weeds: 31.6% FEX, 26.1% placebo). FEX significantly improved the mean change from baseline in TSS compared with placebo ( p Conclusions In this subset of children from Europe, grasses were the most common sensitizing allergen. Furthermore, FEX significantly improved the symptoms of SAR in this population of children.

In 371 healthy relatives of patients with progressive muscular dystrophy of the Duchenne type clinical, electrocardiographic, electromyographic and biochemical examinations were performed. In no case did clinical examination reveal clear evidence of myopathy. The changes in ECG (6–21% abnormal) and EMG (up to 38% abnormal) and a fall in serum citric acid level, similar to the changes observed in patients with the disease, seem to be associated with the carrier state, but having been found in only a small proportion of subjects examined, they seem to us to be of little practical value. An increase of serum aldolase activity in all of the groups examined, including male members, was found, so that this enzyme does not seem to be useful in detecting carriers. The increase in the activity of creatine phosphokinase (CPK) in the serum appears to be the most valuable of all known methods for detecting the carrier state. The usefulness of CPK determination after physical exercise is discussed. The extent to which it is possible at the present stage to draw practical conclusions from these investigations concerning the detection of carriers is discussed.