Sarcoidosis is a highly variable, systemic granulomatous disease of hitherto unknown aetiology. The GenPhenReSa (Genotype-Phenotype Relationship in Sarcoidosis) project represents a European multicentre study to investigate the influence of genotype on disease phenotypes in sarcoidosis.The baseline phenotype module of GenPhenReSa comprised 2163 Caucasian patients with sarcoidosis who were phenotyped at 31 study centres according to a standardised protocol.From this module, we found that patients with acute onset were mainly female, young and of Scadding type I or II. Female patients showed a significantly higher frequency of eye and skin involvement, and complained more of fatigue. Based on multidimensional correspondence analysis and subsequent cluster analysis, patients could be clearly stratified into five distinct, yet undescribed, subgroups according to predominant organ involvement: 1) abdominal organ involvement, 2) ocular-cardiac-cutaneous-central nervous system disease involvement, 3) musculoskeletal-cutaneous involvement, 4) pulmonary and intrathoracic lymph node involvement, and 5) extrapulmonary involvement.These five new clinical phenotypes will be useful to recruit homogenous cohorts in future biomedical studies.

Fatigue is associated with quality of life in sarcoidosis patientsMichielsen, H.J.; Drent, M.; Peros-Golubicic, T.; de Vries, J. Published in: Chest Document version:Publisher's PDF, also known as Version of record Publication date: 2006 Link to publication Citation for published version (APA):Michielsen, H. J., Drent, M., Peros-Golubicic, T., & de Vries, J. (2006). Fatigue is associated with quality of life in sarcoidosis patients. Chest, 130(4), 989-994. General rightsCopyright and moral rights for the publications made accessible in the public portal are retained by the authors and/or other copyright owners and it is a condition of accessing publications that users recognise and abide by the legal requirements associated with these rights.-Users may download and print one copy of any publication from the public portal for the purpose of private study or research -You may not further distribute the material or use it for any profit-making activity or commercial gain -You may freely distribute the URL identifying the publication in the public portal Take down policyIf you believe that this document breaches copyright, please contact us providing details, and we will remove access to the work immediately and investigate your claim. Michielsen, PhD; Marjolein Drent, MD, PhD; Tatjana Peros-Golubicic, MD, PhD; and Jolanda De Vries, PhD, MSc Background: Fatigue is one of the core symptoms of sarcoidosis patients. Although it is known that fatigue affects quality of life (QOL) in other patient groups, this relationship has never been studied in sarcoidosis patients using a reliable and valid fatigue scale and a multidimensional QOL instrument. The present cross-sectional study among sarcoidosis patients attempts to gain more insight into this relationship.

Diffuse pulmonary ossification is still underrecognized during life. Its relevance concerning the increasing age of population and longer survival of patients with chronic diseases is underrated. A timely diagnosis will enable a better understanding of pathogenesis and natural course of disease thus paving the way to new therapeutic strategies.

Background: As sarcoidosis is a multisytemic disorder, patients may suffer from various symptoms. The relationship between frequently reported symptoms and quality of life (QOL) has not yet been studied. Objectives: The aim of the present cross-sectional study was to examine the predictive value of the most frequently reported subjective symptoms on QOL after controlling for demographic variables and clinical parameters. Methods: A cross-sectional study was conducted at an outpatient pulmonary clinic in Zagreb, Croatia. One hundred and fifty outpatients with sarcoidosis were seen between January 2002 and May 2004. Symptoms were assessed with a symptom inventory questionnaire, and QOL was measured using the World Health Organization Quality of Life Assessment Instrument. Clinical parameters were derived from the patients’ medical files. Regression analyses were performed to examine the predictive value of symptoms on QOL. Results: The four most frequently mentioned symptoms were fatigue, breathlessness, reduced exercise capacity and arthralgia. In various combinations, being female, using corticosteroids and fatigue predicted the QOL domains physical and psychological health as well as level of independence. Con- clusions: Fatigue appeared to be the most important symptom in predicting various QOL domains after controlling for demographics, disease stage and clinical parameters. Therefore, considering improvement in the patients’ QOL, it is recommended to focus not only on objective health parameters, but also on fatigue in the management of sarcoidosis.

Središnja medicinska knjižnicaSmojver-Ježek, S., Peroš-Golubičić, T., Tekavec-Trkanjec, J., Mažuranić, I., Alilović, M. (2007) Transbronchial fine needle aspiration cytology in the diagnosis of mediastinal/hilar sarcoidosis. Cytopathology, 18 (1 Conclusions: Overall diagnostic accuracy of TBFNA cytology in the diagnosis of sarcoidosis was 86,2%, and cytological findings consistent with sarcoidosis were the only morphological diagnosis of sarcoidosis in 63,6% of patients.

Sarcoidosis is an immune-mediated, multiorgan, granulomatous disease triggered by a combination of environmental and genetic factors. Numerous studies have reported about an association of human leukocyte antigen (HLA) alleles with sarcoidosis, with variation of alleles in different ethnic groups. Therefore, we investigated 142 Croatian sarcoidosis patients treated at the University Hospital for Lung Diseases Jordanovac, Zagreb, Croatia. Diagnosis was based on the presence of typical clinical features, chest X-ray findings and biopsy evidence of granuloma. Patients and control subjects (n = 190) were typed for HLA class I antigens by serology, while for HLA class II, they were tested by the polymerase chain reaction-sequence specific primers (PCR-SSP) method. Results indicated that HLA-B8, -DRB1*0301, and -DQB1*0201 positive patients have a significantly higher risk of acute onset of the disease (AOD), radiological stage I erythema nodosum (EN), Löfgren's syndrome, no-medicament therapy, and pulmonary sarcoidosis. On the other hand, the group of non-treated patients (corticosteroids and/or immunosuppressive) showed a significantly lower presence of HLA-B15 antigen in comparison to controls and treated patients (P = 0.0490 and P = 0.0379, respectively) and for DRB1*04 specificity (P = 0.0078 and P = 0.0065, respectively). In the group of patients with AOD, those who were positive for DRB1*16 specificity have a statistically significant chance to develop EN, as opposed to those who are positive for DRB1*15 specificity.

The FIP1L1- platelet-derived growth factor receptor alpha and beta-positive patients, and those with abnormal T-cell populations are currently the only clearly defined treatable subgroups of hypereosinophilic syndrome. The FIP1L1- platelet-derived growth factor receptor alpha-negative responders to imatinib pose a question as to the existence of subentities with unrecognized tyrosine kinases-based mutation. The search for such cases and other treatable subgroups of hypereosinophilic syndrome has already begun.

The objective of the present study was to investigate the rate of decline in the incidence of tuberculosis (TB) in residents (1985-1994) and in refugees and displaced persons (1992-1994) during prewar and war periods (1985-1994) in the region of Zagreb, Croatia, and to examine a possible change in the trend of decline in the resident population. Data on the incidence of TB were obtained from the Epidemiology Department, Institute for Lung Diseases, Zagreb, Croatia. The sample comprised two groups of subjects: residents (800,000-1,000,000 inhabitants) and all refugees and displaced persons temporarily residing in the Zagreb region (78,000-95,000 persons). Data were analysed by stepwise logistic regression. The most significant predictors of the TB incidence rate were the square of the year and residence status. The rate of TB incidence in nonresidents was significantly higher than in residents. The decline in incidence in residents was significantly slower than in the nonresident group. The results did not indicate a potential change in the natural decline of the incidence of tuberculosis in the resident population during the study periods. The difference between the regression trends of the incidence of tuberculosis in residents and nonresidents was the result of various concomitant factors, including artefacts of the war.