In recent years, questionnaires were published in English to assess the quality of life of patients with PCD (Primary Ciliary Diskinesia) for adults, adolescents aged 13–17 years, and children aged 6–12 years and their caregivers. This study aimed to prepare Polish versions of the questionnaires and validate them in specific age groups with the participation of Polish patients with PCD. The individual questionnaires were translated and discussed with the involvement of the creator of the original questionnaire in English. Patients completed the questionnaires according to their affiliation with one of the groups. Validation was based on internal consistency analysis (Cronbach’s alpha coefficient and split-half reliability) and test–retest reliability (intraclass correlation coefficient—ICC). The internal consistency of all questionnaires was from moderate to very good (Cronbach’s alpha 0.67–0.91, split-half reliability 0.53–0.95). The consistency of the measurements showed excellent repeatability (ICC 0.67–0.91). The surveyed Polish PCD patients rated their quality of life quite well (63–77%). QOL questionnaires for patients with PCD can be used routinely during each medical check-up as a simple tool to provide the doctor with an indication of the effectiveness of treatment and the impact of the disease on the patient’s quality of life.
Urticaria is one of the most common skin disorders. A characteristic feature of this disease is the sudden appearance and rapid regression (up to 24 hours) of blisters, angioedema, or both of these simultaneously. Often, the above changes are accompanied by symptoms of itching and pain. Chronic urticaria, i.e. one that lasts for at least 6 weeks, is divided into spontaneous (CSU) and induced. CSU, because of its unpredictable nature, strongly reduces the quality of life, especially the patient's active professionally and socially. Below is a description of a 38-year-old female patient, with the profession of teacher diagnosed with atopic chronic severe asthma coexisting with CSU, which has been qualified for the program with omalizumab in 2013, i.e., one year before the registration of the drug in the latter diagnosis. Since the inclusion of the patient into the program in addition to the vast improvement in asthma control in spite of the withdrawal of systemic corticosteroids (sGCS) and the reduction of inhaled glucocorticosteroids (ICS), any episode of CSU is not repeated which is undoubtedly the added benefit of applied therapy.
Abstract Background: Cystic fibrosis (CF) is one of the most common autosomal recessive disease, and the type of mutation is recognized as one of the most important factors determining the survival rate. Factors contributing to disease exacerbations, and survival rate are poor nutritional status, lung failure, and infection development by Pseudomonas Aeruginosa .The study aimed to evaluate the effect of the severity of mutation, nutritional status, lung function, and Pseudomonas aeruginosa infection on survival rate in adult patients with Cystic Fibrosis. Material and methods: A study of 124 (68 ♀ and 56 ♂) CF patients aged from 18 to 51 years were evaluated for: a) type of mutation in the CFTR gene, b) nutritional status (BMI), c) lung function (FEV1%), and d) Pseudomonas aeruginosa (PA) infection. For statistical calculations, Kaplan-Meier analysis of survival and Chi-squared test for multiple samples were used. Results: Both the type of mutation (Chi²=12.73, df= 3, p=0.005), lung function (Chi² = 15.20, df = 2, p = 0.0005), PA infection (Chi²= 11.48, df= 3, p= 0.009), and BMI (Chi²=31.08, df=4, p<0.000) significantly differentiated the probability of survival of CF patients. The shortest life expectancy was observed in patients with a severe type of mutation on both alleles, FEV1% between 40-70%, subjects in whom Pseudomonas culture was extensively drug-resistant or pandrug-resistant, and patients whose BMI was lower than 18.5 kg/m². The period from 30 to 40 years of age was of the most critical in CF adults’ lifespan. Furthermore, most exacerbations occurred between 20 and 35 years of age. Conclusions: All factors included in the study significantly influenced the survival rate of patients with cystic fibrosis. In the face of the growing population of CF patients, the research on factors affecting their life expectancy seems to take on greater importance.
We assumed that miRNA expression in exhaled breath condensate (EBC) during pulmonary exacerbation (PE) may reflect pathological changes in the airways in cystic fibrosis. The aim of this study was to analyse the expression of selected miRNA genes in EBC samples during cystic fibrosis pulmonary exacerbation and correlate it to the clinical parameters of PE. We included 31 cystic fibrosis patients during pulmonary exacerbation and in stable condition. In all subjects we assessed blood morphology, microbiology, lung function and chest imaging. Severity of symptoms was assessed using Schwachman–Kulczycki score. Exhaled breath condensate samples were collected using TurboDeccs. The expression of 5 miRNAs (miR-26a, miR-486-5p, miR-451a, miR-27b, miR-223-3p) was analysed from EBC-derived exosomes by qPCR. The statistical analysis was done using Statistica package. We found that miR-26a was significantly overexpressed in EBC samples during CF pulmonary exacerbation. The expression of miR-26a significantly correlated with symptoms severity assessed by Schwachman-Kulczycki and Brasfield score (p<0.05) in CF patients. None of the studied miRNAs correlated with blood neutrophilia or bacterial infections. Conclusions: EBC-derived miRNA may be a biomarker of pathological changes in the lower airways in cystic fibrosis paediatric patients. The study was supported by the Polish National Science Centre, grant no. 2016/22/E/NZ5/00383 (A. Szczepankiewicz).
Cancer metastatic spread to serous cavity causes malignant pleural effusions (MPEs), indicating dismal prognosis. Tumor microenvironment can implement suppressive activity on host immune responses. Thus, we investigated the prevalence of Tregs and the relationship between them and TGF-β and IL-10 concentrations and measured expression of FOXP3, CTLA-4, CD28, and GITR genes, as well as protein expression of selected genes in benign effusions and MPEs. The percentage of Tregs was determined by means of multicolor flow cytometry system. TGF-β and IL-10 concentrations were measured using human TGF-β1 and IL-10 ELISA kit. Relative mRNA expression of studied genes was analyzed by real-time PCR. The frequency of Tregs was significantly higher in MPEs compared to benign effusions; however, the level of TGF-β and IL-10 in analyzed groups was comparable, and no correlation between concentrations of TGF-β and IL-10 and percentage of Tregs was observed. Relative mRNA expression of all the genes was higher in CD4+CD25+ compared to CD4+CD25- cells. In CD4+CD25+ cells from MPEs, relative mRNA expression of FOXP3, CTLA-4, and CD28 genes was significantly higher than in benign effusions; however, the level of CD4+CD25+CTLA-4+ cells in analyzed groups showed no significant differences. We found numerous genes correlations in an entire CD4+CD25+ cell subset and CD4+CD25+ cells from MPEs. Enhanced suppressive activity of Tregs is observed in the microenvironment of MPEs. Understanding of relations between cellular and cytokine immunosuppressive factors in tumor microenvironment may determine success of anticancer response.
The study aimed to assess: (1) differences in nutritional status and lung function between CF patients and the control group; (2) differences in body composition and lung function between groups of patients with CF designated by type of mutation; (3) the relationship between lung function and body composition in CF patients.
We studied 37 CF patients aged 19 to 51 years, and 41 healthy non-CF volunteers. Nutritional status was evaluated based on the BMI and the bioelectrical impedance analysis. The lung function was described by FEV1%. CF patients were classified according to the CFTR genotype based on five classes of mutations.
BMI were lower in CF patients compared to reference group (women: Z = 3.76, p <0.001, men: Z = 3.06, p = 0.002). CF patients had a lower mean content of particular body components, as well as FEV1% values. BMI differed significantly depending on the type of mutation in females (H = 10.33, p = 0.006) and males (H = 8.26, p = 0.016). The lowest values of BMI were observed in the group of patients with severe types of mutations. Also, variables describing body composition were statistically significantly lower in patients with a severe type of mutations. The CFTR gene mutation type statistically significantly differentiated FEV1% (H = 23.22, p <0.000). The results of the logistic regression analysis showed that the likelihood of dropping FEV1% below the norm was twice as high in undernourished females and males.
To assess the nutritional status of CF patients, more informative methods describing the proportions of body components are required.
