Background: Despite extensive knowledge about the quality of life of people suffering from rare diseases, data on patients with Marfan syndrome (MFS) are scarce and inconsistent. Hence, the problem of assessing the quality of life (QOL) and its relationship with the assessment of which ailments are the most burdensome for these patients is still open. Aim: Comparison of the quality of life of patients with MFS and determination as to which of the reported complaints in patients with MFS are related to the QOL of patients. Methods: The study included 35 patients with MFS and 35 healthy controls, matched for gender and age. In the study, the questionnaire of quality of life assessment SF-36 was used to assess the level of health-related quality of life, as well as an interview of the most severe symptoms reported by patients with MFS. Results: The level of the physical dimension of the QOL (p < 0.001) and limiting of roles due to physical health (p = 0.002), as well as the level of general index of the QOL (p < 0.001), were statistically significantly lower in MFS patients when compared to controls. People from both studied groups do not vary in the scope of pain, vitality, social functioning, limiting the roles due to emotional problems, and state of mind but also in the mental dimension of the health-related quality of life (HRQL). Additionally, there has been a correlation between HRQL and the subjective assessment of the effects of orthopedic, ophthalmic, and cardiological problems in life, as well as lower exercise tolerance in the evaluation of people with MFS and QOL in most areas. Conclusions: Patients with MFS present a reduced QOL in the areas of physical functioning, limiting roles due to physical health, general feeling of general health, the physical dimension of the HRQL, and the general index of the QOL; in these areas, they require careful evaluation, as well as medical and psychosocial assistance.

Introduction The aim of this study is to validate the Polish version of the Urethral Stricture Surgery – Patient-Reported Outcome Measure (USS-PROM) by evaluating its psychometric properties. Material and methods Patients with urethral stricture scheduled for urethroplasty between 2014 and 2018 were prospectively enrolled. The results of the USS-PROM were obtained before the operation, and during follow-up visits. The original USS-PROM was translated into Polish and re-translated into English in accordance with the guidelines by Dawson et al. regarding the adaptation process. Psychometric assessment included internal consistency, test-retest reliability, criterion validity and responsiveness. Results One hundred twelve patients were included. 54 patients completed the USS-PROM both before and 3 months after the surgery and 39 of them completed the questionnaire 6 months after the surgery to evaluate the test-retest reliability. Cronbach's α for internal consistency of the lower urinary tract symptoms (LUTS) domain score was 0.87. The test-retest intraclass correlation coefficient was 0.82. Spearman's coefficients showed no correlation between USS-PROM's result and maximal urinary flow (Qmax) result before the surgery (rs = 0.13; p >0.05) and a positive correlation between USS-PROM's result and Qmax result at follow up: 3 months after (rs =- 0.56; p <0.05), 6 months after (rs -0.64; p <0.05), and 12 months after (rs = -0.85; p <0.05). There were statistically significant strong and positive correlations between LUTS score and International Prostate Symptom Score (IPSS). Responsiveness of the test was confirmed with non-parametric Friedman's analysis of variance (ANOVA) with Kendall's coefficient of concordance (χ2 ANOVA = 8.95, p = 0.03). Conclusions The Polish version of the USS-PROM questionnaire has appropriate psychometric properties and can be used in the assessment of patients with urethral stricture undergoing urethroplasty.

health psychology report • volume 7(3), 9 original article background Diagnosis of chronic illness, which constitutes a lifethreatening situation such as in Marfan syndrome or disease with periods of remission and severity such as in juvenile idiopathic arthritis (JIA), leads to problems with the functioning of the adolescent and the whole family system. Therefore the aim of the study was to determine the differences in severity of internalizing and externalizing problems and in the perception of the family system between adolescents with Marfan syndrome, with JIA, and without chronic disease, as well as to determine whether characteristics of the family system are associated with externalizing and internalizing behaviors in those groups. participants and procedure The study involved three groups of adolescents: 1) with Marfan syndrome (n = 25), 2) with JIA (n = 29), and 3) without chronic illness (n = 20). We used the adolescent version of the Child Behavior Checklist (CBCL) Youth Self-Report (YSR) and the Family Assessment Scale. results Our results indicated that adolescents with Marfan syndrome have similar scores compared to adolescents without illness on all subscales concerning both internalizing and externalizing behaviors, as well as the family system's characteristics. Compared to adolescents with JIA, adolescents with Marfan syndrome had lower scores on externalization symptoms and Attention Problems and they also perceive their families as less balanced. Additionally, in the perception of adolescents with Marfan syndrome and with JIA the weaker the family bond, the stronger the intensity of externalizing behaviors. conclusions Although in the light of our novel research, adolescents with Marfan syndrome do not present behavioral problems different from healthy peers, it is worth continuing such research in order to verify the results. Adolescents with JIA present more externalizing behaviors than peers without chronic illness, which is consistent with some previous research. Research on families of an adolescent child with Marfan and JIA are quite novel and they should be continued.

Cel pracyCelem badania była analiza funkcjonowania rodziny w percpecji osoby z zespołem Marfana oraz poszukiwanie zależności między cechami systemu a ogólną jakością życia chorych.MetodaW badaniu uczesniczyły 33 osoby z zespołem Marfana oraz 33 osoby bez diagnozy choroby przewlekłej. Wykorzystano Skale Oceny Rodziny – polską adaptację FACES-IV D. H. Olsona oraz SWLS (Satisfaction with Life Scale) autorstwa Dienera, Emmonsa, Larsona i Griffina.WynikiOsoby z zespołem Marfana postrzegają swoje rodziny jako znacznie mniej spójne i znacznie bardziej niezwiązane od osób bez diagnozy przewlekłej choroby. System rodzinny osób z zespołem Marfana charakteryzuje się niskimi wynikami w zakresie spójności i elastyczności oraz wysokimi wynikami w pozostałych czterech skalach, co wskazuje na profil rodziny podobny do "niezrównoważonego" systemu. Satysfakcja z życia osób z zespołem Marfana korelowała pozytywnie ze Spójnością, Elastycznością i Satysfakcją z Życia Rodzinnego jako cechami postrzeganego przez nich system rodzinnego.WnioskiUzyskane wyniki potwierdzają znaczenie wspierania rodziny osób z zespołem Marfana jako oraz udzielania im specjalistycznej pomocy w radzeniu sobie z obciążeniem emocjonalnym związanym ze zdrowiem pacjenta.